Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 91 |
| ensemblid | ENSG00000135503.13 |
| hgncid | 172 |
| symbol | ACVR1B |
| name | activin A receptor type 1B |
| refseq_nuc | NM_004302.5 |
| refseq_prot | NP_004293.1 |
| ensembl_nuc | ENST00000257963.9 |
| ensembl_prot | ENSP00000257963.4 |
| mane_status | MANE Select |
| chr | chr12 |
| start | 51951699 |
| end | 51997078 |
| strand | + |
| ver | v1.2 |
| region | chr12:51951699-51997078 |
| region5000 | chr12:51946699-52002078 |
| regionname0 | ACVR1B_chr12_51951699_51997078 |
| regionname5000 | ACVR1B_chr12_51946699_52002078 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 505 | 323 | 89 | 58 | 134 | 10 | 30 | 102 | ACVR1B_chr12_51946699_52002078 | ACVR1B | MAESA others(500): Show |
chr12 | 51946699 | 52002078 |
| a0002 | 0/0 | 505 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | MAESA others(500): Show |
chr12 | 51946699 | 52002078 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 1515 | 307 | 74 | 58 | 133 | 10 | 30 | ACVR1B_chr12_51946699_52002078 | ACVR1B | ATGGC others(1510): Show |
chr12 | 51946699 | 52002078 | ||
| a0001c0002 | 0/0 | 1515 | 5 | 5 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | ATGGC others(1510): Show |
chr12 | 51946699 | 52002078 | ||
| a0001c0003 | 0/0 | 1515 | 3 | 3 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | ATGGC others(1510): Show |
chr12 | 51946699 | 52002078 | ||
| a0001c0004 | 0/0 | 1515 | 3 | 3 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | ATGGC others(1510): Show |
chr12 | 51946699 | 52002078 | ||
| a0001c0005 | 0/0 | 1515 | 2 | 2 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | ATGGC others(1510): Show |
chr12 | 51946699 | 52002078 | ||
| a0001c0006 | 0/0 | 1515 | 2 | 2 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | ATGGC others(1510): Show |
chr12 | 51946699 | 52002078 | ||
| a0001c0007 | 0/0 | 1515 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | ATGGC others(1510): Show |
chr12 | 51946699 | 52002078 | ||
| a0002c0008 | 0/0 | 1515 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | ATGGC others(1510): Show |
chr12 | 51946699 | 52002078 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/1 | 4528 | 112 | 18 | 14 | 62 | 3 | 14 | ACVR1B_chr12_51946699_52002078 | ACVR1B | GGGCG others(4523): Show |
chr12 | 51946699 | 52002078 |
| a0001c0001t0002 | 0/0 | 4529 | 85 | 9 | 17 | 49 | 0 | 10 | ACVR1B_chr12_51946699_52002078 | ACVR1B | GGGCG others(4524): Show |
chr12 | 51946699 | 52002078 |
| a0001c0001t0003 | 0/0 | 4532 | 19 | 13 | 0 | 5 | 0 | 1 | ACVR1B_chr12_51946699_52002078 | ACVR1B | GGGCG others(4527): Show |
chr12 | 51946699 | 52002078 |
| a0001c0001t0004 | 0/0 | 4531 | 16 | 15 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | GGGCG others(4526): Show |
chr12 | 51946699 | 52002078 |
| a0001c0001t0005 | 0/0 | 4529 | 10 | 0 | 8 | 0 | 2 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | GGGCG others(4524): Show |
chr12 | 51946699 | 52002078 |
| a0001c0001t0006 | 1/0 | 4531 | 9 | 4 | 1 | 1 | 1 | 1 | ACVR1B_chr12_51946699_52002078 | ACVR1B | GGGCG others(4526): Show |
chr12 | 51946699 | 52002078 |
| a0001c0001t0007 | 0/0 | 4529 | 9 | 3 | 0 | 3 | 1 | 2 | ACVR1B_chr12_51946699_52002078 | ACVR1B | GGGCG others(4524): Show |
chr12 | 51946699 | 52002078 |
| a0001c0001t0008 | 0/0 | 4528 | 7 | 0 | 6 | 0 | 1 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | GGGCG others(4523): Show |
chr12 | 51946699 | 52002078 |
| a0001c0001t0009 | 0/0 | 4528 | 6 | 0 | 2 | 0 | 2 | 2 | ACVR1B_chr12_51946699_52002078 | ACVR1B | GGGCG others(4523): Show |
chr12 | 51946699 | 52002078 |
| a0001c0001t0010 | 0/0 | 4529 | 6 | 0 | 3 | 3 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | GGGCG others(4524): Show |
chr12 | 51946699 | 52002078 |
| a0001c0001t0011 | 0/0 | 4529 | 3 | 1 | 2 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | GGGCG others(4524): Show |
chr12 | 51946699 | 52002078 |
| a0001c0001t0012 | 0/0 | 4528 | 3 | 3 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | GGGCG others(4523): Show |
chr12 | 51946699 | 52002078 |
| a0001c0001t0014 | 0/0 | 4529 | 3 | 0 | 0 | 3 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | GGGCG others(4524): Show |
chr12 | 51946699 | 52002078 |
| a0001c0001t0015 | 0/0 | 4529 | 3 | 1 | 2 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | GGGCG others(4524): Show |
chr12 | 51946699 | 52002078 |
| a0001c0001t0017 | 0/0 | 4528 | 2 | 0 | 0 | 2 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | GGGCG others(4523): Show |
chr12 | 51946699 | 52002078 |
| a0001c0001t0018 | 0/0 | 4529 | 2 | 1 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | GGGCG others(4524): Show |
chr12 | 51946699 | 52002078 |
| a0001c0001t0019 | 0/0 | 4528 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | GGGCG others(4523): Show |
chr12 | 51946699 | 52002078 |
| a0001c0001t0021 | 0/0 | 4531 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | GGGCG others(4526): Show |
chr12 | 51946699 | 52002078 |
| a0001c0001t0022 | 0/0 | 4532 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | GGGCG others(4527): Show |
chr12 | 51946699 | 52002078 |
| a0001c0001t0023 | 0/0 | 4528 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | GGGCG others(4523): Show |
chr12 | 51946699 | 52002078 |
| a0001c0001t0024 | 0/0 | 4528 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | GGGCG others(4523): Show |
chr12 | 51946699 | 52002078 |
| a0001c0001t0025 | 0/0 | 4528 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | GGGCG others(4523): Show |
chr12 | 51946699 | 52002078 |
| a0001c0001t0026 | 0/0 | 4529 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | GGGCG others(4524): Show |
chr12 | 51946699 | 52002078 |
| a0001c0001t0027 | 0/0 | 4517 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | GGGCG others(4512): Show |
chr12 | 51946699 | 52002078 |
| a0001c0001t0028 | 0/0 | 4528 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | GGGCG others(4523): Show |
chr12 | 51946699 | 52002078 |
| a0001c0001t0029 | 0/0 | 4528 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | GGGCG others(4523): Show |
chr12 | 51946699 | 52002078 |
| a0001c0001t0030 | 0/0 | 4529 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | GGGCG others(4524): Show |
chr12 | 51946699 | 52002078 |
| a0001c0001t0031 | 0/0 | 4529 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | GGGCG others(4524): Show |
chr12 | 51946699 | 52002078 |
| a0001c0002t0002 | 0/0 | 4529 | 4 | 4 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | GGGCG others(4524): Show |
chr12 | 51946699 | 52002078 |
| a0001c0002t0019 | 0/0 | 4528 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | GGGCG others(4523): Show |
chr12 | 51946699 | 52002078 |
| a0001c0003t0002 | 0/0 | 4529 | 3 | 3 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | GGGCG others(4524): Show |
chr12 | 51946699 | 52002078 |
| a0001c0004t0013 | 0/0 | 4529 | 3 | 3 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | GGGCG others(4524): Show |
chr12 | 51946699 | 52002078 |
| a0001c0005t0020 | 0/0 | 4528 | 2 | 2 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | GGGCG others(4523): Show |
chr12 | 51946699 | 52002078 |
| a0001c0006t0016 | 0/0 | 4531 | 2 | 2 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | GGGCG others(4526): Show |
chr12 | 51946699 | 52002078 |
| a0001c0007t0002 | 0/0 | 4529 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | GGGCG others(4524): Show |
chr12 | 51946699 | 52002078 |
| a0002c0008t0001 | 0/0 | 4528 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | GGGCG others(4523): Show |
chr12 | 51946699 | 52002078 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0006 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0007 | 0/0 | 3 | 1 | 0 | 0 | 0 | 2 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0019 | 0/0 | 2 | 0 | 1 | 0 | 0 | 1 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0020 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0021 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0022 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0023 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0024 | 0/0 | 2 | 0 | 0 | 0 | 1 | 1 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0025 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0026 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0027 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0030 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0050 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0156 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0174 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0175 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0176 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0177 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0178 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0179 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0180 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0181 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0183 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0184 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0185 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0186 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0189 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0190 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0191 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0192 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0202 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0216 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0217 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0219 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0220 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0221 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0223 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0224 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0226 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0228 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0231 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0232 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0233 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0236 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0237 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0238 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0240 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0241 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0242 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0244 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0245 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0246 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0247 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0248 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0249 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0250 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0251 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0252 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0253 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0257 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0259 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0260 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0261 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0262 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0264 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0265 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0267 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0001g0268 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0003 | 0/0 | 3 | 0 | 1 | 2 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0009 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0010 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0011 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0012 | 0/0 | 2 | 0 | 1 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0016 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0034 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0048 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0060 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0077 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0082 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0083 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0084 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0096 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0101 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0102 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0105 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0110 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0134 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0256 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0277 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0002g0280 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0003g0005 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0003g0015 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0003g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0003g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0003g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0003g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0003g0144 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0003g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0003g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0003g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0003g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0003g0166 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0003g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0003g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0003g0169 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0003g0172 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0004g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0004g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0004g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0004g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0004g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0004g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0004g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0004g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0004g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0004g0171 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0004g0270 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0004g0272 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0004g0281 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0004g0282 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0004g0283 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0004g0284 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0005g0002 | 0/0 | 3 | 0 | 2 | 0 | 1 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0005g0008 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0005g0046 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0005g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0005g0078 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0005g0079 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0005g0104 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0006g0018 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0006g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0006g0155 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0006g0157 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0006g0158 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0006g0170 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0006g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0006g0263 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0007g0014 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0007g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0007g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0007g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0007g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0007g0129 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0007g0254 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0007g0255 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0008g0001 | 0/0 | 4 | 0 | 4 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0008g0204 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0008g0229 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0008g0230 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0009g0017 | 0/0 | 2 | 0 | 1 | 0 | 1 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0009g0159 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0009g0160 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0009g0161 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0009g0162 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0010g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0010g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0010g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0010g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0010g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0010g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0011g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0011g0147 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0011g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0012g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0012g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0012g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0014g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0014g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0014g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0015g0112 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0015g0113 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0015g0286 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0017g0028 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0018g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0018g0115 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0019g0076 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0021g0285 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0022g0271 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0023g0239 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0024g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0025g0275 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0026g0276 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0027g0266 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0028g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0029g0269 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0030g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0001t0031g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0002t0002g0004 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0002t0002g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0002t0002g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0002t0019g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0003t0002g0013 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0003t0002g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0004t0013g0029 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0004t0013g0258 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0005t0020g0278 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0005t0020g0279 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0006t0016g0273 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0006t0016g0274 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0001c0007t0002g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| a0002c0008t0001g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0001 | g0024 | EUR | GBR | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG00099 | hp2 | a0001 | c0001 | t0006 | g0158 | EUR | GBR | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG00280 | hp1 | a0001 | c0001 | t0009 | g0017 | EUR | FIN | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG00280 | hp2 | a0001 | c0001 | t0001 | g0177 | EUR | FIN | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG00323 | hp1 | a0001 | c0001 | t0007 | g0129 | EUR | FIN | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG00323 | hp2 | a0001 | c0001 | t0008 | g0204 | EUR | FIN | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG00438 | hp1 | a0001 | c0001 | t0002 | g0065 | EAS | CHS | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG00438 | hp2 | a0001 | c0001 | t0002 | g0097 | EAS | CHS | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG00544 | hp1 | a0001 | c0001 | t0001 | g0247 | EAS | CHS | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG00544 | hp2 | a0001 | c0001 | t0027 | g0266 | EAS | CHS | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG00558 | hp1 | a0001 | c0001 | t0001 | g0173 | EAS | CHS | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG00558 | hp2 | a0001 | c0001 | t0001 | g0244 | EAS | CHS | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG00597 | hp1 | a0001 | c0001 | t0002 | g0072 | EAS | CHS | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG00597 | hp2 | a0001 | c0001 | t0001 | g0211 | EAS | CHS | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0030 | EAS | CHS | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG00609 | hp2 | a0001 | c0001 | t0001 | g0245 | EAS | CHS | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG00621 | hp1 | a0001 | c0001 | t0001 | g0260 | EAS | CHS | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG00621 | hp2 | a0001 | c0001 | t0001 | g0042 | EAS | CHS | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG00639 | hp1 | a0001 | c0001 | t0001 | g0249 | AMR | PUR | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG00639 | hp2 | a0001 | c0001 | t0001 | g0019 | AMR | PUR | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG00642 | hp1 | a0001 | c0001 | t0001 | g0156 | AMR | PUR | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG00642 | hp2 | a0001 | c0001 | t0002 | g0106 | AMR | PUR | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG00673 | hp1 | a0001 | c0001 | t0002 | g0037 | EAS | CHS | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG00673 | hp2 | a0001 | c0001 | t0001 | g0243 | EAS | CHS | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG00733 | hp1 | a0001 | c0001 | t0019 | g0076 | AMR | PUR | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG00733 | hp2 | a0001 | c0001 | t0001 | g0022 | AMR | PUR | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG00735 | hp1 | a0001 | c0001 | t0002 | g0061 | AMR | PUR | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG00735 | hp2 | a0001 | c0001 | t0001 | g0022 | AMR | PUR | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG00738 | hp1 | a0001 | c0001 | t0002 | g0090 | AMR | PUR | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG00738 | hp2 | a0001 | c0001 | t0002 | g0134 | AMR | PUR | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG00741 | hp1 | a0001 | c0001 | t0008 | g0001 | AMR | PUR | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG00741 | hp2 | a0001 | c0001 | t0002 | g0077 | AMR | PUR | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01071 | hp1 | a0001 | c0001 | t0005 | g0047 | AMR | PUR | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01071 | hp2 | a0001 | c0001 | t0008 | g0001 | AMR | PUR | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01074 | hp1 | a0001 | c0001 | t0009 | g0017 | AMR | PUR | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01074 | hp2 | a0001 | c0001 | t0005 | g0079 | AMR | PUR | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01081 | hp1 | a0001 | c0001 | t0001 | g0250 | AMR | PUR | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01081 | hp2 | a0001 | c0001 | t0010 | g0070 | AMR | PUR | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01099 | hp1 | a0001 | c0001 | t0009 | g0159 | AMR | PUR | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01099 | hp2 | a0001 | c0001 | t0005 | g0002 | AMR | PUR | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01106 | hp1 | a0001 | c0001 | t0001 | g0185 | AMR | PUR | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01106 | hp2 | a0001 | c0001 | t0015 | g0112 | AMR | PUR | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01109 | hp1 | a0001 | c0001 | t0004 | g0282 | AMR | PUR | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01109 | hp2 | a0001 | c0001 | t0002 | g0102 | AMR | PUR | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01167 | hp1 | a0001 | c0001 | t0015 | g0113 | AMR | PUR | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01167 | hp2 | a0001 | c0001 | t0011 | g0147 | AMR | PUR | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01168 | hp1 | a0001 | c0001 | t0002 | g0110 | AMR | PUR | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01168 | hp2 | a0001 | c0001 | t0001 | g0192 | AMR | PUR | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01169 | hp1 | a0001 | c0001 | t0002 | g0105 | AMR | PUR | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01169 | hp2 | a0001 | c0001 | t0011 | g0148 | AMR | PUR | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01175 | hp1 | a0001 | c0001 | t0005 | g0104 | AMR | PUR | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01175 | hp2 | a0001 | c0001 | t0001 | g0189 | AMR | PUR | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01192 | hp1 | a0001 | c0001 | t0002 | g0049 | AMR | PUR | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01192 | hp2 | a0001 | c0001 | t0001 | g0248 | AMR | PUR | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01255 | hp1 | a0001 | c0001 | t0002 | g0064 | AMR | CLM | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01255 | hp2 | a0001 | c0001 | t0006 | g0155 | AMR | CLM | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01258 | hp1 | a0001 | c0001 | t0005 | g0002 | AMR | CLM | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01258 | hp2 | a0001 | c0001 | t0002 | g0133 | AMR | CLM | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01346 | hp1 | a0001 | c0001 | t0008 | g0001 | AMR | CLM | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01346 | hp2 | a0001 | c0001 | t0018 | g0115 | AMR | CLM | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01358 | hp1 | a0001 | c0001 | t0005 | g0046 | AMR | CLM | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01358 | hp2 | a0001 | c0001 | t0001 | g0178 | AMR | CLM | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01361 | hp1 | a0001 | c0001 | t0008 | g0229 | AMR | CLM | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01361 | hp2 | a0001 | c0001 | t0002 | g0056 | AMR | CLM | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01496 | hp1 | a0001 | c0001 | t0010 | g0055 | AMR | CLM | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01496 | hp2 | a0001 | c0001 | t0001 | g0184 | AMR | CLM | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01515 | hp1 | a0001 | c0001 | t0001 | g0202 | EUR | IBS | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01515 | hp2 | a0001 | c0001 | t0005 | g0002 | EUR | IBS | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01884 | hp1 | a0001 | c0003 | t0002 | g0013 | AFR | ACB | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01884 | hp2 | a0001 | c0001 | t0006 | g0018 | AFR | ACB | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01891 | hp1 | a0001 | c0001 | t0006 | g0154 | AFR | ACB | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01891 | hp2 | a0001 | c0001 | t0003 | g0149 | AFR | ACB | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01928 | hp1 | a0001 | c0001 | t0010 | g0067 | AMR | PEL | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01928 | hp2 | a0001 | c0001 | t0002 | g0082 | AMR | PEL | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01934 | hp1 | a0001 | c0001 | t0002 | g0071 | AMR | PEL | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01934 | hp2 | a0001 | c0001 | t0005 | g0008 | AMR | PEL | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01978 | hp1 | a0001 | c0001 | t0002 | g0012 | AMR | PEL | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01978 | hp2 | a0001 | c0001 | t0008 | g0230 | AMR | PEL | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01993 | hp1 | a0001 | c0001 | t0008 | g0001 | AMR | PEL | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01993 | hp2 | a0001 | c0001 | t0002 | g0003 | AMR | PEL | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02055 | hp1 | a0001 | c0002 | t0002 | g0127 | AFR | ACB | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02055 | hp2 | a0001 | c0001 | t0003 | g0168 | AFR | ACB | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02056 | hp1 | a0001 | c0001 | t0001 | g0212 | EAS | KHV | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02056 | hp2 | a0001 | c0001 | t0001 | g0207 | EAS | KHV | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02071 | hp1 | a0001 | c0001 | t0023 | g0239 | EAS | KHV | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02071 | hp2 | a0001 | c0001 | t0002 | g0098 | EAS | KHV | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02080 | hp1 | a0001 | c0001 | t0001 | g0221 | EAS | KHV | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02080 | hp2 | a0001 | c0001 | t0010 | g0074 | EAS | KHV | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02129 | hp1 | a0001 | c0001 | t0028 | g0206 | EAS | KHV | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02129 | hp2 | a0001 | c0001 | t0002 | g0057 | EAS | KHV | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02132 | hp1 | a0001 | c0001 | t0001 | g0199 | EAS | KHV | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02132 | hp2 | a0001 | c0001 | t0001 | g0223 | EAS | KHV | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02145 | hp1 | a0001 | c0001 | t0002 | g0132 | AFR | ACB | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02145 | hp2 | a0001 | c0001 | t0004 | g0171 | AFR | ACB | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02165 | hp1 | a0001 | c0001 | t0001 | g0025 | EAS | CDX | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02165 | hp2 | a0001 | c0001 | t0003 | g0145 | EAS | CDX | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02257 | hp1 | a0001 | c0001 | t0001 | g0186 | AFR | ACB | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02257 | hp2 | a0001 | c0001 | t0004 | g0165 | AFR | ACB | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02258 | hp1 | a0001 | c0001 | t0001 | g0175 | AFR | ACB | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02258 | hp2 | a0001 | c0001 | t0012 | g0153 | AFR | ACB | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02280 | hp1 | a0001 | c0001 | t0003 | g0169 | AFR | ACB | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02280 | hp2 | a0001 | c0001 | t0001 | g0007 | AFR | ACB | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02293 | hp1 | a0001 | c0001 | t0001 | g0238 | AMR | PEL | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02293 | hp2 | a0001 | c0001 | t0002 | g0073 | AMR | PEL | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02451 | hp1 | a0001 | c0001 | t0001 | g0187 | AFR | ACB | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02451 | hp2 | a0001 | c0006 | t0016 | g0274 | AFR | ACB | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02523 | hp1 | a0001 | c0001 | t0002 | g0081 | EAS | KHV | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02523 | hp2 | a0001 | c0001 | t0006 | g0215 | EAS | KHV | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02572 | hp1 | a0001 | c0001 | t0003 | g0140 | AFR | GWD | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02572 | hp2 | a0001 | c0001 | t0001 | g0122 | AFR | GWD | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0050 | SAS | PJL | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02602 | hp2 | a0001 | c0001 | t0001 | g0007 | SAS | PJL | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02615 | hp1 | a0001 | c0001 | t0003 | g0150 | AFR | GWD | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02615 | hp2 | a0001 | c0001 | t0004 | g0121 | AFR | GWD | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02622 | hp1 | a0001 | c0001 | t0001 | g0217 | AFR | GWD | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02622 | hp2 | a0001 | c0001 | t0001 | g0020 | AFR | GWD | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02630 | hp1 | a0001 | c0002 | t0002 | g0128 | AFR | GWD | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02630 | hp2 | a0001 | c0001 | t0003 | g0015 | AFR | GWD | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02647 | hp1 | a0001 | c0001 | t0002 | g0031 | AFR | GWD | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02647 | hp2 | a0001 | c0001 | t0004 | g0283 | AFR | GWD | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02683 | hp1 | a0001 | c0001 | t0001 | g0216 | SAS | PJL | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02683 | hp2 | a0001 | c0001 | t0001 | g0176 | SAS | PJL | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02698 | hp1 | a0001 | c0001 | t0009 | g0160 | SAS | PJL | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02698 | hp2 | a0001 | c0001 | t0001 | g0220 | SAS | PJL | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02717 | hp1 | a0001 | c0001 | t0015 | g0286 | AFR | GWD | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02717 | hp2 | a0001 | c0002 | t0002 | g0004 | AFR | GWD | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02723 | hp1 | a0001 | c0001 | t0007 | g0123 | AFR | GWD | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02723 | hp2 | a0001 | c0001 | t0003 | g0015 | AFR | GWD | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02809 | hp1 | a0001 | c0002 | t0002 | g0004 | AFR | GWD | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02809 | hp2 | a0002 | c0008 | t0001 | g0193 | AFR | GWD | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02818 | hp1 | a0001 | c0001 | t0004 | g0117 | AFR | GWD | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02818 | hp2 | a0001 | c0001 | t0001 | g0241 | AFR | GWD | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02886 | hp1 | a0001 | c0001 | t0001 | g0240 | AFR | GWD | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02886 | hp2 | a0001 | c0003 | t0002 | g0111 | AFR | GWD | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02895 | hp1 | a0001 | c0001 | t0004 | g0118 | AFR | GWD | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02895 | hp2 | a0001 | c0005 | t0020 | g0279 | AFR | GWD | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02896 | hp1 | a0001 | c0004 | t0013 | g0029 | AFR | GWD | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02896 | hp2 | a0001 | c0005 | t0020 | g0278 | AFR | GWD | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02897 | hp1 | a0001 | c0004 | t0013 | g0029 | AFR | GWD | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02897 | hp2 | a0001 | c0001 | t0004 | g0119 | AFR | GWD | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02965 | hp1 | a0001 | c0006 | t0016 | g0273 | AFR | ESN | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02965 | hp2 | a0001 | c0001 | t0003 | g0172 | AFR | ESN | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02976 | hp1 | a0001 | c0003 | t0002 | g0013 | AFR | ESN | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02976 | hp2 | a0001 | c0001 | t0012 | g0151 | AFR | ESN | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG03017 | hp1 | a0001 | c0001 | t0001 | g0183 | SAS | PJL | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG03017 | hp2 | a0001 | c0001 | t0002 | g0256 | SAS | PJL | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG03041 | hp1 | a0001 | c0001 | t0003 | g0137 | AFR | GWD | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG03041 | hp2 | a0001 | c0001 | t0001 | g0021 | AFR | GWD | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG03098 | hp1 | a0001 | c0001 | t0004 | g0270 | AFR | MSL | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG03098 | hp2 | a0001 | c0001 | t0001 | g0190 | AFR | MSL | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG03130 | hp1 | a0001 | c0001 | t0018 | g0114 | AFR | ESN | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG03130 | hp2 | a0001 | c0001 | t0001 | g0191 | AFR | ESN | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG03139 | hp1 | a0001 | c0001 | t0002 | g0280 | AFR | ESN | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG03139 | hp2 | a0001 | c0001 | t0001 | g0021 | AFR | ESN | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG03195 | hp1 | a0001 | c0001 | t0003 | g0138 | AFR | ESN | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG03195 | hp2 | a0001 | c0002 | t0019 | g0004 | AFR | ESN | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG03209 | hp1 | a0001 | c0001 | t0022 | g0271 | AFR | MSL | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG03209 | hp2 | a0001 | c0001 | t0002 | g0277 | AFR | MSL | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG03225 | hp1 | a0001 | c0001 | t0030 | g0136 | AFR | MSL | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG03225 | hp2 | a0001 | c0001 | t0026 | g0276 | AFR | MSL | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG03239 | hp1 | a0001 | c0001 | t0001 | g0179 | SAS | PJL | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG03239 | hp2 | a0001 | c0001 | t0009 | g0161 | SAS | PJL | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG03453 | hp1 | a0001 | c0001 | t0004 | g0120 | AFR | MSL | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG03453 | hp2 | a0001 | c0001 | t0007 | g0116 | AFR | MSL | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG03486 | hp1 | a0001 | c0001 | t0012 | g0163 | AFR | MSL | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG03486 | hp2 | a0001 | c0001 | t0001 | g0267 | AFR | MSL | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG03490 | hp1 | a0001 | c0001 | t0007 | g0014 | SAS | PJL | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG03490 | hp2 | a0001 | c0001 | t0002 | g0084 | SAS | PJL | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG03492 | hp1 | a0001 | c0001 | t0001 | g0262 | SAS | PJL | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG03492 | hp2 | a0001 | c0001 | t0007 | g0014 | SAS | PJL | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG03516 | hp1 | a0001 | c0001 | t0025 | g0275 | AFR | ESN | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG03516 | hp2 | a0001 | c0001 | t0002 | g0033 | AFR | ESN | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG03540 | hp1 | a0001 | c0001 | t0003 | g0139 | AFR | GWD | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG03540 | hp2 | a0001 | c0001 | t0002 | g0109 | AFR | GWD | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG03579 | hp1 | a0001 | c0001 | t0021 | g0285 | AFR | MSL | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG03579 | hp2 | a0001 | c0001 | t0004 | g0284 | AFR | MSL | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG03654 | hp1 | a0001 | c0001 | t0001 | g0024 | SAS | PJL | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG03654 | hp2 | a0001 | c0001 | t0002 | g0060 | SAS | PJL | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG03688 | hp1 | a0001 | c0001 | t0002 | g0048 | SAS | STU | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG03688 | hp2 | a0001 | c0001 | t0002 | g0009 | SAS | STU | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG03704 | hp1 | a0001 | c0001 | t0002 | g0101 | SAS | PJL | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG03704 | hp2 | a0001 | c0001 | t0001 | g0181 | SAS | PJL | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG03942 | hp1 | a0001 | c0001 | t0002 | g0034 | SAS | BEB | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG03942 | hp2 | a0001 | c0001 | t0001 | g0228 | SAS | BEB | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG04115 | hp1 | a0001 | c0001 | t0001 | g0180 | SAS | STU | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG04115 | hp2 | a0001 | c0001 | t0003 | g0144 | SAS | STU | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG04199 | hp1 | a0001 | c0001 | t0006 | g0263 | SAS | STU | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG04199 | hp2 | a0001 | c0001 | t0002 | g0096 | SAS | STU | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG04228 | hp1 | a0001 | c0001 | t0001 | g0019 | SAS | STU | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG04228 | hp2 | a0001 | c0001 | t0002 | g0083 | SAS | STU | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18522 | hp1 | a0001 | c0001 | t0029 | g0269 | AFR | YRI | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18522 | hp2 | a0001 | c0001 | t0006 | g0170 | AFR | YRI | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0219 | EAS | CHB | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18612 | hp2 | a0001 | c0001 | t0010 | g0069 | EAS | CHB | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18747 | hp1 | a0001 | c0001 | t0024 | g0214 | EAS | CHB | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18747 | hp2 | a0001 | c0001 | t0002 | g0095 | EAS | CHB | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18906 | hp1 | a0001 | c0001 | t0003 | g0166 | AFR | YRI | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18906 | hp2 | a0001 | c0001 | t0004 | g0281 | AFR | YRI | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18939 | hp1 | a0001 | c0001 | t0002 | g0087 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18939 | hp2 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18940 | hp1 | a0001 | c0001 | t0001 | g0234 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18940 | hp2 | a0001 | c0001 | t0002 | g0103 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18943 | hp1 | a0001 | c0001 | t0001 | g0208 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18943 | hp2 | a0001 | c0001 | t0002 | g0059 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18944 | hp1 | a0001 | c0001 | t0002 | g0094 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18944 | hp2 | a0001 | c0001 | t0001 | g0233 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18945 | hp1 | a0001 | c0001 | t0001 | g0201 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18945 | hp2 | a0001 | c0001 | t0002 | g0089 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18946 | hp1 | a0001 | c0001 | t0001 | g0142 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18946 | hp2 | a0001 | c0001 | t0001 | g0222 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18948 | hp1 | a0001 | c0001 | t0014 | g0039 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18948 | hp2 | a0001 | c0001 | t0001 | g0026 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18950 | hp1 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18950 | hp2 | a0001 | c0001 | t0002 | g0003 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18951 | hp1 | a0001 | c0001 | t0007 | g0254 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18951 | hp2 | a0001 | c0001 | t0002 | g0126 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18952 | hp1 | a0001 | c0001 | t0007 | g0125 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18952 | hp2 | a0001 | c0001 | t0017 | g0028 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18953 | hp1 | a0001 | c0001 | t0001 | g0225 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18953 | hp2 | a0001 | c0007 | t0002 | g0080 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18956 | hp1 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18956 | hp2 | a0001 | c0001 | t0002 | g0012 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18957 | hp1 | a0001 | c0001 | t0001 | g0231 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18957 | hp2 | a0001 | c0001 | t0010 | g0068 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18962 | hp1 | a0001 | c0001 | t0002 | g0051 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18962 | hp2 | a0001 | c0001 | t0002 | g0093 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18963 | hp1 | a0001 | c0001 | t0002 | g0010 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18963 | hp2 | a0001 | c0001 | t0001 | g0209 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18966 | hp1 | a0001 | c0001 | t0001 | g0264 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18966 | hp2 | a0001 | c0001 | t0001 | g0023 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18970 | hp1 | a0001 | c0001 | t0003 | g0005 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18970 | hp2 | a0001 | c0001 | t0002 | g0053 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18972 | hp1 | a0001 | c0001 | t0001 | g0232 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18972 | hp2 | a0001 | c0001 | t0002 | g0041 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18974 | hp1 | a0001 | c0001 | t0001 | g0259 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18974 | hp2 | a0001 | c0001 | t0002 | g0044 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18975 | hp1 | a0001 | c0001 | t0002 | g0152 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18975 | hp2 | a0001 | c0001 | t0001 | g0027 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18978 | hp1 | a0001 | c0001 | t0002 | g0036 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18978 | hp2 | a0001 | c0001 | t0001 | g0210 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18983 | hp1 | a0001 | c0001 | t0002 | g0062 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18983 | hp2 | a0001 | c0001 | t0001 | g0023 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18986 | hp1 | a0001 | c0001 | t0002 | g0058 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18986 | hp2 | a0001 | c0001 | t0003 | g0146 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18987 | hp1 | a0001 | c0001 | t0001 | g0261 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18987 | hp2 | a0001 | c0001 | t0002 | g0054 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18990 | hp1 | a0001 | c0001 | t0002 | g0091 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18990 | hp2 | a0001 | c0001 | t0001 | g0196 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18992 | hp1 | a0001 | c0001 | t0014 | g0088 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18992 | hp2 | a0001 | c0001 | t0003 | g0005 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18995 | hp1 | a0001 | c0001 | t0007 | g0255 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18995 | hp2 | a0001 | c0001 | t0001 | g0265 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19000 | hp1 | a0001 | c0001 | t0001 | g0252 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19000 | hp2 | a0001 | c0001 | t0001 | g0198 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19002 | hp1 | a0001 | c0001 | t0002 | g0108 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19002 | hp2 | a0001 | c0001 | t0001 | g0025 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19004 | hp1 | a0001 | c0001 | t0002 | g0043 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19004 | hp2 | a0001 | c0001 | t0001 | g0026 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19005 | hp1 | a0001 | c0001 | t0001 | g0195 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19005 | hp2 | a0001 | c0001 | t0002 | g0182 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19009 | hp1 | a0001 | c0001 | t0002 | g0003 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19009 | hp2 | a0001 | c0001 | t0017 | g0028 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19010 | hp1 | a0001 | c0001 | t0001 | g0200 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19010 | hp2 | a0001 | c0001 | t0002 | g0143 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19011 | hp1 | a0001 | c0001 | t0001 | g0030 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19011 | hp2 | a0001 | c0001 | t0001 | g0253 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19012 | hp1 | a0001 | c0001 | t0002 | g0066 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19012 | hp2 | a0001 | c0001 | t0001 | g0235 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19043 | hp1 | a0001 | c0001 | t0002 | g0032 | AFR | LWK | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19043 | hp2 | a0001 | c0004 | t0013 | g0258 | AFR | LWK | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19054 | hp1 | a0001 | c0001 | t0001 | g0257 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19054 | hp2 | a0001 | c0001 | t0031 | g0045 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19056 | hp1 | a0001 | c0001 | t0002 | g0107 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19056 | hp2 | a0001 | c0001 | t0001 | g0251 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19058 | hp1 | a0001 | c0001 | t0002 | g0086 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19058 | hp2 | a0001 | c0001 | t0001 | g0213 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19060 | hp1 | a0001 | c0001 | t0001 | g0237 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19060 | hp2 | a0001 | c0001 | t0002 | g0052 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19062 | hp1 | a0001 | c0001 | t0002 | g0038 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19062 | hp2 | a0001 | c0001 | t0001 | g0027 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19065 | hp1 | a0001 | c0001 | t0002 | g0010 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19065 | hp2 | a0001 | c0001 | t0001 | g0226 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19070 | hp1 | a0001 | c0001 | t0001 | g0197 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19070 | hp2 | a0001 | c0001 | t0002 | g0092 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19074 | hp1 | a0001 | c0001 | t0002 | g0011 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19074 | hp2 | a0001 | c0001 | t0002 | g0016 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19076 | hp1 | a0001 | c0001 | t0001 | g0224 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19076 | hp2 | a0001 | c0001 | t0014 | g0040 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19077 | hp1 | a0001 | c0001 | t0002 | g0016 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19077 | hp2 | a0001 | c0001 | t0003 | g0005 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19081 | hp1 | a0001 | c0001 | t0002 | g0011 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19081 | hp2 | a0001 | c0001 | t0001 | g0246 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19082 | hp1 | a0001 | c0001 | t0001 | g0218 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19082 | hp2 | a0001 | c0001 | t0002 | g0035 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19083 | hp1 | a0001 | c0001 | t0001 | g0227 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19083 | hp2 | a0001 | c0001 | t0002 | g0085 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19090 | hp1 | a0001 | c0001 | t0001 | g0205 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19090 | hp2 | a0001 | c0001 | t0002 | g0100 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19091 | hp1 | a0001 | c0001 | t0001 | g0236 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19091 | hp2 | a0001 | c0001 | t0002 | g0099 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19240 | hp1 | a0001 | c0001 | t0001 | g0020 | AFR | YRI | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA19240 | hp2 | a0001 | c0001 | t0006 | g0018 | AFR | YRI | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA20129 | hp1 | a0001 | c0001 | t0001 | g0194 | AFR | ASW | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA20129 | hp2 | a0001 | c0001 | t0004 | g0130 | AFR | ASW | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA20752 | hp1 | a0001 | c0001 | t0005 | g0078 | EUR | TSI | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA20752 | hp2 | a0001 | c0001 | t0009 | g0162 | EUR | TSI | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA20905 | hp1 | a0001 | c0001 | t0001 | g0007 | SAS | GIH | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA20905 | hp2 | a0001 | c0001 | t0002 | g0009 | SAS | GIH | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01123 | hp1 | a0001 | c0001 | t0001 | g0242 | AMR | CLM | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG01123 | hp2 | a0001 | c0001 | t0005 | g0008 | AMR | CLM | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02109 | hp1 | a0001 | c0001 | t0007 | g0124 | AFR | ACB | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02109 | hp2 | a0001 | c0001 | t0002 | g0135 | AFR | ACB | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02486 | hp1 | a0001 | c0001 | t0003 | g0167 | AFR | ACB | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02486 | hp2 | a0001 | c0001 | t0004 | g0272 | AFR | ACB | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02559 | hp1 | a0001 | c0001 | t0004 | g0164 | AFR | ACB | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG02559 | hp2 | a0001 | c0001 | t0001 | g0174 | AFR | ACB | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG03471 | hp1 | a0001 | c0001 | t0004 | g0131 | AFR | MSL | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| HG03471 | hp2 | a0001 | c0001 | t0011 | g0141 | AFR | MSL | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18955 | hp1 | a0001 | c0001 | t0001 | g0203 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA18955 | hp2 | a0001 | c0001 | t0002 | g0063 | EAS | JPT | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA20300 | hp1 | a0001 | c0001 | t0002 | g0075 | AFR | USA | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| NA20300 | hp2 | a0001 | c0001 | t0001 | g0188 | AFR | USA | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0001 | g0268 | REF | REF | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0006 | g0157 | REF | REF | ACVR1B_chr12_51946699_52002078 | ACVR1B | chr12 | 51946699 | 52002078 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12:51976356 | A | C | 1 | a0002 | 1 | HG02809.hp2 | missense_variant | MODERATE | c.361A>C | p.Met121Leu | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/9 | 406/4531 | 361/1518 | 121/505 | chr12 | 51976356 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12:51975278 | G | A | 1 | a0001c0007 | 1 | NA18953.hp2 | synonymous_variant | LOW | c.105G>A | p.Ala35Ala | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 2/9 | 150/4531 | 105/1518 | 35/505 | chr12 | 51975278 | |||
| chr12:51975326 | C | T | 1 | a0001c0004 | 3 | HG02896.hp1 HG02897.hp1 NA19043.hp2 |
synonymous_variant | LOW | c.153C>T | p.Ala51Ala | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 2/9 | 198/4531 | 153/1518 | 51/505 | chr12 | 51975326 | |||
| chr12:51975407 | C | T | 1 | a0001c0003 | 3 | HG01884.hp1 HG02886.hp2 HG02976.hp1 |
synonymous_variant | LOW | c.234C>T | p.Ala78Ala | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 2/9 | 279/4531 | 234/1518 | 78/505 | chr12 | 51975407 | |||
| chr12:51976397 | G | A | 1 | a0001c0005 | 2 | HG02895.hp2 HG02896.hp2 |
synonymous_variant | LOW | c.402G>A | p.Pro134Pro | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/9 | 447/4531 | 402/1518 | 134/505 | chr12 | 51976397 | |||
| chr12:51991912 | C | T | 1 | a0001c0006 | 2 | HG02451.hp2 HG02965.hp1 |
synonymous_variant | LOW | c.1311C>T | p.Asp437Asp | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/9 | 1356/4531 | 1311/1518 | 437/505 | chr12 | 51991912 | |||
| chr12:51994074 | C | T | 1 | a0001c0002 | 5 | HG02055.hp1 HG02630.hp1 HG02717.hp2 others(2): Show |
synonymous_variant | LOW | c.1482C>T | p.Leu494Leu | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 9/9 | 1527/4531 | 1482/1518 | 494/505 | chr12 | 51994074 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12:51951713 | TGCG | T | 29 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(26): Show |
272 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(269): Show |
5_prime_UTR_variant | MODIFIER | c.-11_-9delCGG | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/9 | 9 | INFO_REALIGN_3_PRIME | chr12 | 51951713 | |||||
| chr12:51951736 | T | C | 1 | a0001c0001t0021 | 1 | HG03579.hp1 | 5_prime_UTR_variant | MODIFIER | c.-8T>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/9 | 8 | chr12 | 51951736 | ||||||
| chr12:51994174 | G | A | 1 | a0001c0001t0017 | 2 | NA18952.hp2 NA19009.hp2 |
3_prime_UTR_variant | MODIFIER | c.*64G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 9/9 | 64 | chr12 | 51994174 | ||||||
| chr12:51994294 | C | G | 1 | a0001c0001t0031 | 1 | NA19054.hp2 | 3_prime_UTR_variant | MODIFIER | c.*184C>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 9/9 | 184 | chr12 | 51994294 | ||||||
| chr12:51994336 | G | A | 1 | a0001c0006t0016 | 2 | HG02451.hp2 HG02965.hp1 |
3_prime_UTR_variant | MODIFIER | c.*226G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 9/9 | 226 | chr12 | 51994336 | ||||||
| chr12:51994344 | TGGA | T | 1 | a0001c0001t0011 | 3 | HG01167.hp2 HG01169.hp2 HG03471.hp2 |
3_prime_UTR_variant | MODIFIER | c.*236_*238delGAG | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 9/9 | 236 | INFO_REALIGN_3_PRIME | chr12 | 51994344 | |||||
| chr12:51994366 | C | G | 1 | a0001c0001t0030 | 1 | HG03225.hp1 | 3_prime_UTR_variant | MODIFIER | c.*256C>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 9/9 | 256 | chr12 | 51994366 | ||||||
| chr12:51994437 | C | T | 2 | a0001c0001t0015 a0001c0001t0029 |
4 | HG01106.hp2 HG01167.hp1 HG02717.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*327C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 9/9 | 327 | chr12 | 51994437 | ||||||
| chr12:51994667 | T | C | 1 | a0001c0001t0023 | 1 | HG02071.hp1 | 3_prime_UTR_variant | MODIFIER | c.*557T>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 9/9 | 557 | chr12 | 51994667 | ||||||
| chr12:51994789 | C | T | 1 | a0001c0001t0014 | 3 | NA18948.hp1 NA18992.hp1 NA19076.hp2 |
3_prime_UTR_variant | MODIFIER | c.*679C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 9/9 | 679 | chr12 | 51994789 | ||||||
| chr12:51994812 | C | G | 1 | a0001c0001t0028 | 1 | HG02129.hp1 | 3_prime_UTR_variant | MODIFIER | c.*702C>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 9/9 | 702 | chr12 | 51994812 | ||||||
| chr12:51994948 | CCAGCATC others(4): Show |
C | 1 | a0001c0001t0027 | 1 | HG00544.hp2 | 3_prime_UTR_variant | MODIFIER | c.*843_*853delATCAGC others(5): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 9/9 | 843 | INFO_REALIGN_3_PRIME | chr12 | 51994948 | |||||
| chr12:51994973 | C | T | 1 | a0001c0001t0026 | 1 | HG03225.hp2 | 3_prime_UTR_variant | MODIFIER | c.*863C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 9/9 | 863 | chr12 | 51994973 | ||||||
| chr12:51995107 | A | G | 21 | a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(18): Show |
160 | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(157): Show |
3_prime_UTR_variant | MODIFIER | c.*997A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 9/9 | 997 | chr12 | 51995107 | ||||||
| chr12:51995198 | A | T | 1 | a0001c0001t0025 | 1 | HG03516.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1088A>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 9/9 | 1088 | chr12 | 51995198 | ||||||
| chr12:51995513 | G | A | 1 | a0001c0001t0024 | 1 | NA18747.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1403G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 9/9 | 1403 | chr12 | 51995513 | ||||||
| chr12:51995689 | T | TA | 17 | a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(14): Show |
155 | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(152): Show |
3_prime_UTR_variant | MODIFIER | c.*1590dupA | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 9/9 | 1591 | INFO_REALIGN_3_PRIME | chr12 | 51995689 | |||||
| chr12:51995815 | G | C | 5 | a0001c0001t0004 a0001c0001t0012 a0001c0001t0021 others(2): Show |
23 | HG01109.hp1 HG02145.hp2 HG02257.hp2 others(20): Show |
3_prime_UTR_variant | MODIFIER | c.*1705G>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 9/9 | 1705 | chr12 | 51995815 | ||||||
| chr12:51995878 | C | G | 2 | a0001c0001t0026 a0001c0004t0013 |
4 | HG02896.hp1 HG02897.hp1 HG03225.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*1768C>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 9/9 | 1768 | chr12 | 51995878 | ||||||
| chr12:51996209 | A | G | 1 | a0001c0001t0008 | 7 | HG00323.hp2 HG00741.hp1 HG01071.hp2 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*2099A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 9/9 | 2099 | chr12 | 51996209 | ||||||
| chr12:51996237 | A | G | 2 | a0001c0001t0030 a0001c0005t0020 |
3 | HG02895.hp2 HG02896.hp2 HG03225.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2127A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 9/9 | 2127 | chr12 | 51996237 | ||||||
| chr12:51996255 | A | G | 1 | a0001c0001t0005 | 10 | HG01071.hp1 HG01074.hp2 HG01099.hp2 others(7): Show |
3_prime_UTR_variant | MODIFIER | c.*2145A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 9/9 | 2145 | chr12 | 51996255 | ||||||
| chr12:51996462 | C | G | 1 | a0001c0001t0018 | 2 | HG01346.hp2 HG03130.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2352C>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 9/9 | 2352 | chr12 | 51996462 | ||||||
| chr12:51996512 | C | T | 2 | a0001c0001t0007 a0001c0001t0022 |
10 | HG00323.hp1 HG02109.hp1 HG02723.hp1 others(7): Show |
3_prime_UTR_variant | MODIFIER | c.*2402C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 9/9 | 2402 | chr12 | 51996512 | ||||||
| chr12:51996612 | C | T | 1 | a0001c0001t0015 | 3 | HG01106.hp2 HG01167.hp1 HG02717.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2502C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 9/9 | 2502 | chr12 | 51996612 | ||||||
| chr12:51996641 | T | G | 1 | a0001c0001t0026 | 1 | HG03225.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2531T>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 9/9 | 2531 | chr12 | 51996641 | ||||||
| chr12:51996790 | C | T | 1 | a0001c0001t0009 | 6 | HG00280.hp1 HG01074.hp1 HG01099.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*2680C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 9/9 | 2680 | chr12 | 51996790 | ||||||
| chr12:51996800 | A | C | 1 | a0001c0001t0010 | 6 | HG01081.hp2 HG01496.hp1 HG01928.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*2690A>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 9/9 | 2690 | chr12 | 51996800 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12:51952633 | T | C | 3 | a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 |
3 | HG02647.hp1 HG03516.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.91+799T>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51952633 | |||||||
| chr12:51952693 | A | G | 1 | a0001c0001t0015g0286 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.91+859A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51952693 | |||||||
| chr12:51952805 | C | T | 1 | a0001c0001t0021g0285 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.91+971C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51952805 | |||||||
| chr12:51952893 | C | T | 1 | a0001c0001t0021g0285 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.91+1059C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51952893 | |||||||
| chr12:51952991 | A | T | 4 | a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0001t0004g0283 others(1): Show |
4 | HG01109.hp1 HG02647.hp2 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.91+1157A>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51952991 | |||||||
| chr12:51953199 | G | A | 84 | a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0002g0003 others(81): Show |
93 | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(90): Show |
intron_variant | MODIFIER | c.91+1365G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51953199 | |||||||
| chr12:51953524 | A | G | 1 | a0001c0001t0021g0285 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.91+1690A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51953524 | |||||||
| chr12:51953594 | T | TA | 115 | a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0122 others(112): Show |
127 | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(124): Show |
intron_variant | MODIFIER | c.91+1775dupA | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | 51953594 | ||||||
| chr12:51953639 | T | C | 1 | a0001c0001t0002g0034 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.91+1805T>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51953639 | |||||||
| chr12:51953644 | G | T | 1 | a0001c0001t0002g0280 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.91+1810G>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51953644 | |||||||
| chr12:51953673 | T | C | 18 | a0001c0001t0001g0142 a0001c0001t0002g0143 a0001c0001t0003g0005 others(15): Show |
22 | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(19): Show |
intron_variant | MODIFIER | c.91+1839T>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51953673 | |||||||
| chr12:51953880 | A | G | 9 | a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 others(6): Show |
9 | HG00738.hp2 HG01258.hp2 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.91+2046A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51953880 | |||||||
| chr12:51953999 | G | A | 1 | a0001c0001t0012g0151 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.91+2165G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51953999 | |||||||
| chr12:51954233 | T | G | 2 | a0001c0001t0002g0016 a0001c0001t0002g0152 |
3 | NA18975.hp1 NA19074.hp2 NA19077.hp1 |
intron_variant | MODIFIER | c.91+2399T>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51954233 | |||||||
| chr12:51954265 | A | G | 34 | a0001c0001t0001g0122 a0001c0001t0002g0031 a0001c0001t0002g0032 others(31): Show |
36 | HG00323.hp1 HG01109.hp1 HG02055.hp1 others(33): Show |
intron_variant | MODIFIER | c.91+2431A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51954265 | |||||||
| chr12:51954475 | A | G | 112 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0019 others(109): Show |
132 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(129): Show |
intron_variant | MODIFIER | c.91+2641A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51954475 | |||||||
| chr12:51954867 | G | A | 2 | a0001c0001t0002g0277 a0001c0001t0026g0276 |
2 | HG03209.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.91+3033G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51954867 | |||||||
| chr12:51955060 | G | A | 3 | a0001c0001t0015g0112 a0001c0001t0015g0113 a0001c0001t0015g0286 |
3 | HG01106.hp2 HG01167.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.91+3226G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51955060 | |||||||
| chr12:51955119 | G | A | 1 | a0001c0001t0001g0173 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.91+3285G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51955119 | |||||||
| chr12:51955217 | T | C | 1 | a0001c0001t0003g0137 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.91+3383T>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51955217 | |||||||
| chr12:51955287 | C | G | 84 | a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0002g0003 others(81): Show |
93 | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(90): Show |
intron_variant | MODIFIER | c.91+3453C>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51955287 | |||||||
| chr12:51955304 | T | C | 84 | a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0002g0003 others(81): Show |
93 | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(90): Show |
intron_variant | MODIFIER | c.91+3470T>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51955304 | |||||||
| chr12:51955714 | G | A | 1 | a0001c0001t0012g0153 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.91+3880G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51955714 | |||||||
| chr12:51955785 | A | C | 1 | a0001c0001t0025g0275 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.91+3951A>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51955785 | |||||||
| chr12:51956039 | G | C | 1 | a0001c0001t0007g0116 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.91+4205G>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51956039 | |||||||
| chr12:51956605 | C | T | 1 | a0001c0001t0025g0275 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.91+4771C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51956605 | |||||||
| chr12:51956680 | A | G | 1 | a0001c0001t0002g0277 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.91+4846A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51956680 | |||||||
| chr12:51956707 | G | T | 2 | a0001c0001t0004g0130 a0001c0001t0004g0131 |
2 | HG03471.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.91+4873G>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51956707 | |||||||
| chr12:51956965 | C | T | 1 | a0001c0001t0002g0109 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.91+5131C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51956965 | |||||||
| chr12:51956995 | C | T | 9 | a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 others(6): Show |
9 | HG00738.hp2 HG01258.hp2 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.91+5161C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51956995 | |||||||
| chr12:51957071 | C | T | 281 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0019 others(278): Show |
318 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(315): Show |
intron_variant | MODIFIER | c.91+5237C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51957071 | |||||||
| chr12:51957177 | G | A | 5 | a0001c0001t0009g0017 a0001c0001t0009g0159 a0001c0001t0009g0160 others(2): Show |
6 | HG00280.hp1 HG01074.hp1 HG01099.hp1 others(3): Show |
intron_variant | MODIFIER | c.91+5343G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51957177 | |||||||
| chr12:51957322 | T | C | 2 | a0001c0001t0018g0114 a0001c0001t0018g0115 |
2 | HG01346.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.91+5488T>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51957322 | |||||||
| chr12:51957391 | C | T | 1 | a0001c0001t0001g0267 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.91+5557C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51957391 | |||||||
| chr12:51957441 | CA | C | 133 | a0001c0001t0001g0050 a0001c0001t0001g0122 a0001c0001t0001g0142 others(130): Show |
148 | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(145): Show |
intron_variant | MODIFIER | c.91+5626delA | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | 51957441 | ||||||
| chr12:51957441 | CAA | C | 10 | a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 others(7): Show |
10 | HG02647.hp1 HG02895.hp2 HG02896.hp2 others(7): Show |
intron_variant | MODIFIER | c.91+5625_91+5626del others(2): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | 51957441 | ||||||
| chr12:51957548 | C | T | 1 | a0001c0001t0003g0015 | 2 | HG02630.hp2 HG02723.hp2 |
intron_variant | MODIFIER | c.91+5714C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51957548 | |||||||
| chr12:51957567 | G | A | 2 | a0001c0001t0025g0275 a0001c0001t0029g0269 |
2 | HG03516.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.91+5733G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51957567 | |||||||
| chr12:51957596 | G | A | 2 | a0001c0001t0001g0174 a0001c0001t0001g0175 |
2 | HG02258.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.91+5762G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51957596 | |||||||
| chr12:51957634 | G | A | 3 | a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 |
3 | HG00280.hp2 HG01358.hp2 HG02683.hp2 |
intron_variant | MODIFIER | c.91+5800G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51957634 | |||||||
| chr12:51957959 | T | C | 10 | a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0004g0119 others(7): Show |
10 | HG02486.hp2 HG02615.hp2 HG02818.hp1 others(7): Show |
intron_variant | MODIFIER | c.91+6125T>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51957959 | |||||||
| chr12:51958359 | T | C | 1 | a0001c0001t0004g0270 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.91+6525T>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51958359 | |||||||
| chr12:51958455 | CA | C | 84 | a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0002g0003 others(81): Show |
93 | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(90): Show |
intron_variant | MODIFIER | c.91+6623delA | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | 51958455 | ||||||
| chr12:51958517 | G | A | 84 | a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0002g0003 others(81): Show |
93 | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(90): Show |
intron_variant | MODIFIER | c.91+6683G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51958517 | |||||||
| chr12:51958663 | A | C | 1 | a0001c0001t0002g0106 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.91+6829A>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51958663 | |||||||
| chr12:51958665 | G | A | 154 | a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0122 others(151): Show |
169 | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(166): Show |
intron_variant | MODIFIER | c.91+6831G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51958665 | |||||||
| chr12:51958731 | A | G | 4 | a0001c0001t0001g0030 a0001c0001t0001g0264 a0001c0001t0001g0265 others(1): Show |
5 | HG00544.hp2 HG00609.hp1 NA18966.hp1 others(2): Show |
intron_variant | MODIFIER | c.91+6897A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51958731 | |||||||
| chr12:51958760 | C | T | 2 | a0001c0001t0015g0112 a0001c0001t0015g0113 |
2 | HG01106.hp2 HG01167.hp1 |
intron_variant | MODIFIER | c.91+6926C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51958760 | |||||||
| chr12:51958871 | C | T | 1 | a0001c0001t0004g0171 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.91+7037C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51958871 | |||||||
| chr12:51958885 | A | G | 1 | a0001c0001t0026g0276 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.91+7051A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51958885 | |||||||
| chr12:51958961 | G | A | 154 | a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0122 others(151): Show |
169 | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(166): Show |
intron_variant | MODIFIER | c.91+7127G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51958961 | |||||||
| chr12:51959143 | C | T | 2 | a0001c0001t0002g0105 a0001c0001t0002g0110 |
2 | HG01168.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.91+7309C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51959143 | |||||||
| chr12:51959326 | G | A | 9 | a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 others(6): Show |
9 | HG00738.hp2 HG01258.hp2 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.91+7492G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51959326 | |||||||
| chr12:51959421 | G | T | 1 | a0001c0001t0007g0129 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.91+7587G>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51959421 | |||||||
| chr12:51959531 | C | A | 1 | a0001c0001t0003g0005 | 3 | NA18970.hp1 NA18992.hp2 NA19077.hp2 |
intron_variant | MODIFIER | c.91+7697C>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51959531 | |||||||
| chr12:51959573 | G | C | 1 | a0001c0001t0003g0005 | 3 | NA18970.hp1 NA18992.hp2 NA19077.hp2 |
intron_variant | MODIFIER | c.91+7739G>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51959573 | |||||||
| chr12:51959786 | C | G | 2 | a0001c0001t0001g0262 a0001c0001t0006g0263 |
2 | HG03492.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.91+7952C>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51959786 | |||||||
| chr12:51959794 | A | C | 2 | a0001c0001t0025g0275 a0001c0001t0029g0269 |
2 | HG03516.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.91+7960A>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51959794 | |||||||
| chr12:51959914 | G | GT | 23 | a0001c0001t0001g0142 a0001c0001t0001g0259 a0001c0001t0001g0260 others(20): Show |
27 | HG00621.hp1 HG01167.hp2 HG01169.hp2 others(24): Show |
intron_variant | MODIFIER | c.91+8094dupT | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | 51959914 | ||||||
| chr12:51960146 | A | G | 17 | a0001c0001t0001g0142 a0001c0001t0002g0143 a0001c0001t0003g0005 others(14): Show |
21 | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(18): Show |
intron_variant | MODIFIER | c.91+8312A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51960146 | |||||||
| chr12:51960159 | C | T | 1 | a0001c0001t0004g0272 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.91+8325C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51960159 | |||||||
| chr12:51960166 | T | A | 4 | a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0107 others(1): Show |
4 | NA18974.hp2 NA19004.hp1 NA19054.hp2 others(1): Show |
intron_variant | MODIFIER | c.91+8332T>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51960166 | |||||||
| chr12:51960169 | C | A | 4 | a0001c0001t0001g0019 a0001c0001t0001g0179 a0001c0001t0001g0180 others(1): Show |
5 | HG00639.hp2 HG03239.hp1 HG03704.hp2 others(2): Show |
intron_variant | MODIFIER | c.91+8335C>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51960169 | |||||||
| chr12:51960973 | CTCTGAAC others(126): Show |
C | 92 | a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0122 others(89): Show |
102 | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(99): Show |
intron_variant | MODIFIER | c.91+9143_91+9275del | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | 51960973 | ||||||
| chr12:51961095 | G | A | 1 | a0001c0001t0006g0215 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.91+9261G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51961095 | |||||||
| chr12:51961154 | A | G | 20 | a0001c0001t0001g0142 a0001c0001t0002g0143 a0001c0001t0003g0005 others(17): Show |
24 | HG01167.hp2 HG01169.hp2 HG01346.hp2 others(21): Show |
intron_variant | MODIFIER | c.91+9320A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51961154 | |||||||
| chr12:51961250 | C | T | 2 | a0001c0001t0002g0108 a0001c0001t0004g0131 |
2 | HG03471.hp1 NA19002.hp1 |
intron_variant | MODIFIER | c.91+9416C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51961250 | |||||||
| chr12:51961373 | ATGT | A | 3 | a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 |
3 | HG01106.hp1 HG01496.hp2 HG03017.hp1 |
intron_variant | MODIFIER | c.91+9541_91+9543del others(3): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | 51961373 | ||||||
| chr12:51961448 | A | G | 1 | a0001c0001t0006g0263 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.91+9614A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51961448 | |||||||
| chr12:51961534 | A | G | 2 | a0001c0005t0020g0278 a0001c0005t0020g0279 |
2 | HG02895.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.91+9700A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51961534 | |||||||
| chr12:51961654 | C | T | 6 | a0001c0001t0009g0017 a0001c0001t0009g0159 a0001c0001t0009g0160 others(3): Show |
7 | HG00280.hp1 HG01074.hp1 HG01099.hp1 others(4): Show |
intron_variant | MODIFIER | c.91+9820C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51961654 | |||||||
| chr12:51961739 | C | G | 4 | a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0107 others(1): Show |
4 | NA18974.hp2 NA19004.hp1 NA19054.hp2 others(1): Show |
intron_variant | MODIFIER | c.91+9905C>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51961739 | |||||||
| chr12:51961786 | A | G | 1 | a0001c0006t0016g0274 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.91+9952A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51961786 | |||||||
| chr12:51961881 | G | T | 1 | a0001c0001t0006g0170 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.91+10047G>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51961881 | |||||||
| chr12:51961889 | C | A | 5 | a0001c0001t0029g0269 a0001c0002t0002g0004 a0001c0002t0002g0127 others(2): Show |
6 | HG02055.hp1 HG02630.hp1 HG02717.hp2 others(3): Show |
intron_variant | MODIFIER | c.91+10055C>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51961889 | |||||||
| chr12:51961906 | A | G | 3 | a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 |
3 | HG02647.hp1 HG03516.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.91+10072A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51961906 | |||||||
| chr12:51962026 | C | G | 1 | a0001c0001t0001g0042 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.91+10192C>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51962026 | |||||||
| chr12:51962122 | C | T | 1 | a0001c0001t0002g0103 | 1 | NA18940.hp2 | intron_variant | MODIFIER | c.91+10288C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51962122 | |||||||
| chr12:51962326 | AT | A | 10 | a0001c0001t0001g0122 a0001c0001t0002g0277 a0001c0001t0007g0123 others(7): Show |
11 | HG00280.hp1 HG01074.hp1 HG01099.hp1 others(8): Show |
intron_variant | MODIFIER | c.91+10500delT | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | 51962326 | ||||||
| chr12:51962367 | G | A | 2 | a0001c0001t0002g0035 a0001c0001t0002g0108 |
2 | NA19002.hp1 NA19082.hp2 |
intron_variant | MODIFIER | c.91+10533G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51962367 | |||||||
| chr12:51962539 | T | G | 39 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0176 others(36): Show |
46 | HG00280.hp2 HG00323.hp1 HG01071.hp1 others(43): Show |
intron_variant | MODIFIER | c.91+10705T>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51962539 | |||||||
| chr12:51962719 | A | G | 2 | a0001c0001t0001g0194 a0002c0008t0001g0193 |
2 | HG02809.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.91+10885A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51962719 | |||||||
| chr12:51962782 | A | G | 2 | a0001c0001t0001g0176 a0001c0001t0001g0177 |
2 | HG00280.hp2 HG02683.hp2 |
intron_variant | MODIFIER | c.91+10948A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51962782 | |||||||
| chr12:51963019 | T | C | 8 | a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 others(5): Show |
9 | HG02055.hp1 HG02630.hp1 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.91+11185T>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51963019 | |||||||
| chr12:51963108 | A | G | 150 | a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0257 others(147): Show |
167 | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(164): Show |
intron_variant | MODIFIER | c.91+11274A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51963108 | |||||||
| chr12:51963172 | T | C | 1 | a0001c0001t0004g0281 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.91+11338T>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51963172 | |||||||
| chr12:51963175 | TTAAG | T | 4 | a0001c0001t0004g0121 a0001c0001t0004g0130 a0001c0001t0004g0131 others(1): Show |
4 | HG02615.hp2 HG03471.hp1 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.91+11344_91+11347d others(6): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | 51963175 | ||||||
| chr12:51963237 | A | AT | 5 | a0001c0001t0002g0109 a0001c0001t0002g0277 a0001c0001t0026g0276 others(2): Show |
6 | HG02896.hp1 HG02897.hp1 HG03209.hp2 others(3): Show |
intron_variant | MODIFIER | c.91+11409dupT | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | 51963237 | ||||||
| chr12:51963465 | C | T | 3 | a0001c0001t0002g0109 a0001c0004t0013g0029 a0001c0004t0013g0258 |
4 | HG02896.hp1 HG02897.hp1 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.91+11631C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51963465 | |||||||
| chr12:51963466 | G | A | 1 | a0001c0001t0001g0191 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.91+11632G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51963466 | |||||||
| chr12:51963504 | C | T | 1 | a0001c0001t0002g0102 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.91+11670C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51963504 | |||||||
| chr12:51963529 | C | T | 3 | a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0171 |
3 | HG02145.hp2 HG02257.hp2 HG02559.hp1 |
intron_variant | MODIFIER | c.91+11695C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51963529 | |||||||
| chr12:51963530 | G | A | 1 | a0001c0001t0001g0022 | 2 | HG00733.hp2 HG00735.hp2 |
intron_variant | MODIFIER | c.91+11696G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51963530 | |||||||
| chr12:51963531 | C | T | 1 | a0001c0001t0015g0286 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.91+11697C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51963531 | |||||||
| chr12:51963559 | C | G | 2 | a0001c0001t0001g0252 a0001c0001t0001g0253 |
2 | NA19000.hp1 NA19011.hp2 |
intron_variant | MODIFIER | c.92-11706C>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51963559 | |||||||
| chr12:51963575 | T | G | 18 | a0001c0001t0004g0121 a0001c0001t0004g0130 a0001c0001t0004g0131 others(15): Show |
18 | HG01109.hp1 HG02145.hp2 HG02257.hp2 others(15): Show |
intron_variant | MODIFIER | c.92-11690T>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51963575 | |||||||
| chr12:51963587 | T | C | 1 | a0001c0001t0002g0280 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.92-11678T>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51963587 | |||||||
| chr12:51963725 | T | C | 2 | a0001c0001t0001g0186 a0001c0001t0006g0154 |
2 | HG01891.hp1 HG02257.hp1 |
intron_variant | MODIFIER | c.92-11540T>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51963725 | |||||||
| chr12:51963759 | C | G | 2 | a0001c0001t0002g0016 a0001c0001t0002g0152 |
3 | NA18975.hp1 NA19074.hp2 NA19077.hp1 |
intron_variant | MODIFIER | c.92-11506C>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51963759 | |||||||
| chr12:51963859 | C | G | 1 | a0001c0001t0001g0251 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.92-11406C>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51963859 | |||||||
| chr12:51963932 | A | T | 1 | a0001c0001t0029g0269 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.92-11333A>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51963932 | |||||||
| chr12:51964024 | A | G | 4 | a0001c0001t0001g0022 a0001c0001t0001g0248 a0001c0001t0001g0249 others(1): Show |
5 | HG00639.hp1 HG00733.hp2 HG00735.hp2 others(2): Show |
intron_variant | MODIFIER | c.92-11241A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51964024 | |||||||
| chr12:51964112 | C | T | 2 | a0001c0001t0001g0142 a0001c0001t0001g0247 |
2 | HG00544.hp1 NA18946.hp1 |
intron_variant | MODIFIER | c.92-11153C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51964112 | |||||||
| chr12:51964217 | C | T | 1 | a0001c0001t0001g0246 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.92-11048C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51964217 | |||||||
| chr12:51964218 | G | A | 43 | a0001c0001t0002g0003 a0001c0001t0002g0036 a0001c0001t0002g0037 others(40): Show |
48 | HG00438.hp1 HG00597.hp1 HG00642.hp2 others(45): Show |
intron_variant | MODIFIER | c.92-11047G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51964218 | |||||||
| chr12:51964219 | C | A | 1 | a0001c0001t0003g0167 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.92-11046C>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51964219 | |||||||
| chr12:51964299 | C | T | 3 | a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 |
3 | HG00558.hp2 HG00609.hp2 HG00673.hp2 |
intron_variant | MODIFIER | c.92-10966C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51964299 | |||||||
| chr12:51964337 | G | A | 1 | a0001c0001t0002g0103 | 1 | NA18940.hp2 | intron_variant | MODIFIER | c.92-10928G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51964337 | |||||||
| chr12:51964384 | G | A | 162 | a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0010 others(159): Show |
179 | HG00280.hp1 HG00323.hp1 HG00438.hp1 others(176): Show |
intron_variant | MODIFIER | c.92-10881G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51964384 | |||||||
| chr12:51964411 | T | C | 164 | a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0010 others(161): Show |
180 | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(177): Show |
intron_variant | MODIFIER | c.92-10854T>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51964411 | |||||||
| chr12:51964672 | T | C | 1 | a0001c0001t0029g0269 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.92-10593T>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51964672 | |||||||
| chr12:51964724 | C | T | 1 | a0001c0001t0004g0270 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.92-10541C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51964724 | |||||||
| chr12:51965137 | A | G | 1 | a0001c0001t0015g0113 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.92-10128A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51965137 | |||||||
| chr12:51965515 | T | C | 20 | a0001c0001t0002g0143 a0001c0001t0003g0005 a0001c0001t0003g0015 others(17): Show |
24 | HG01167.hp2 HG01169.hp2 HG01346.hp2 others(21): Show |
intron_variant | MODIFIER | c.92-9750T>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51965515 | |||||||
| chr12:51965542 | A | G | 1 | a0001c0001t0017g0028 | 2 | NA18952.hp2 NA19009.hp2 |
intron_variant | MODIFIER | c.92-9723A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51965542 | |||||||
| chr12:51965821 | T | G | 3 | a0001c0001t0015g0112 a0001c0001t0015g0113 a0001c0001t0015g0286 |
3 | HG01106.hp2 HG01167.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.92-9444T>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51965821 | |||||||
| chr12:51965980 | A | G | 3 | a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 |
3 | HG02647.hp1 HG03516.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.92-9285A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51965980 | |||||||
| chr12:51965990 | G | A | 1 | a0001c0001t0030g0136 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.92-9275G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51965990 | |||||||
| chr12:51966020 | A | G | 8 | a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0004g0119 others(5): Show |
8 | HG02615.hp2 HG02818.hp1 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.92-9245A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51966020 | |||||||
| chr12:51966045 | A | G | 1 | a0001c0001t0009g0162 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.92-9220A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51966045 | |||||||
| chr12:51966109 | G | A | 5 | a0001c0001t0002g0143 a0001c0001t0003g0005 a0001c0001t0003g0144 others(2): Show |
7 | HG02165.hp2 HG04115.hp2 NA18970.hp1 others(4): Show |
intron_variant | MODIFIER | c.92-9156G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51966109 | |||||||
| chr12:51966113 | A | G | 1 | a0001c0001t0007g0124 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.92-9152A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51966113 | |||||||
| chr12:51966215 | C | G | 1 | a0001c0001t0001g0242 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.92-9050C>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51966215 | |||||||
| chr12:51966232 | G | A | 1 | a0001c0001t0001g0187 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.92-9033G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51966232 | |||||||
| chr12:51966788 | A | G | 3 | a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 |
3 | HG02647.hp1 HG03516.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.92-8477A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51966788 | |||||||
| chr12:51967019 | T | A | 1 | a0001c0006t0016g0273 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.92-8246T>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51967019 | |||||||
| chr12:51967096 | C | G | 5 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0186 others(2): Show |
7 | HG01891.hp1 HG02257.hp1 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.92-8169C>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51967096 | |||||||
| chr12:51967097 | G | A | 20 | a0001c0001t0002g0143 a0001c0001t0003g0005 a0001c0001t0003g0015 others(17): Show |
24 | HG01167.hp2 HG01169.hp2 HG01346.hp2 others(21): Show |
intron_variant | MODIFIER | c.92-8168G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51967097 | |||||||
| chr12:51967146 | A | G | 1 | a0001c0001t0007g0124 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.92-8119A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51967146 | |||||||
| chr12:51967513 | C | T | 1 | a0001c0001t0002g0103 | 1 | NA18940.hp2 | intron_variant | MODIFIER | c.92-7752C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51967513 | |||||||
| chr12:51967869 | C | G | 11 | a0001c0001t0002g0077 a0001c0001t0003g0166 a0001c0001t0003g0172 others(8): Show |
14 | HG00733.hp1 HG00741.hp2 HG01071.hp1 others(11): Show |
intron_variant | MODIFIER | c.92-7396C>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51967869 | |||||||
| chr12:51967891 | A | G | 1 | a0001c0001t0001g0253 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.92-7374A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51967891 | |||||||
| chr12:51967962 | C | T | 2 | a0001c0001t0001g0251 a0001c0001t0002g0277 |
2 | HG03209.hp2 NA19056.hp2 |
intron_variant | MODIFIER | c.92-7303C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51967962 | |||||||
| chr12:51968563 | T | C | 1 | a0001c0001t0002g0081 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.92-6702T>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51968563 | |||||||
| chr12:51968682 | G | A | 1 | a0001c0001t0002g0277 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.92-6583G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51968682 | |||||||
| chr12:51968695 | T | A | 125 | a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0010 others(122): Show |
140 | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(137): Show |
intron_variant | MODIFIER | c.92-6570T>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51968695 | |||||||
| chr12:51968740 | G | GC | 3 | a0001c0001t0015g0112 a0001c0001t0015g0113 a0001c0001t0015g0286 |
3 | HG01106.hp2 HG01167.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.92-6524dupC | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | 51968740 | ||||||
| chr12:51969002 | G | A | 126 | a0001c0001t0001g0187 a0001c0001t0002g0003 a0001c0001t0002g0009 others(123): Show |
141 | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(138): Show |
intron_variant | MODIFIER | c.92-6263G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51969002 | |||||||
| chr12:51969430 | C | T | 3 | a0001c0001t0026g0276 a0001c0004t0013g0029 a0001c0004t0013g0258 |
4 | HG02896.hp1 HG02897.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.92-5835C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51969430 | |||||||
| chr12:51969463 | A | G | 4 | a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 others(1): Show |
4 | HG00738.hp2 HG01258.hp2 HG02109.hp2 others(1): Show |
intron_variant | MODIFIER | c.92-5802A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51969463 | |||||||
| chr12:51969716 | A | G | 1 | a0001c0001t0001g0250 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.92-5549A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51969716 | |||||||
| chr12:51969753 | G | A | 3 | a0001c0001t0015g0112 a0001c0001t0015g0113 a0001c0001t0015g0286 |
3 | HG01106.hp2 HG01167.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.92-5512G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51969753 | |||||||
| chr12:51969787 | G | A | 3 | a0001c0003t0002g0013 a0001c0003t0002g0111 a0001c0007t0002g0080 |
4 | HG01884.hp1 HG02886.hp2 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.92-5478G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51969787 | |||||||
| chr12:51970208 | G | A | 1 | a0001c0001t0001g0192 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.92-5057G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51970208 | |||||||
| chr12:51970401 | C | T | 3 | a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 |
3 | HG02647.hp1 HG03516.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.92-4864C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51970401 | |||||||
| chr12:51970415 | T | C | 3 | a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0107 |
3 | NA18974.hp2 NA19004.hp1 NA19056.hp1 |
intron_variant | MODIFIER | c.92-4850T>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51970415 | |||||||
| chr12:51970475 | G | A | 4 | a0001c0001t0001g0023 a0001c0001t0001g0195 a0001c0001t0001g0259 others(1): Show |
5 | HG00621.hp1 NA18966.hp2 NA18974.hp1 others(2): Show |
intron_variant | MODIFIER | c.92-4790G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51970475 | |||||||
| chr12:51970488 | C | T | 7 | a0001c0001t0005g0002 a0001c0001t0005g0008 a0001c0001t0005g0046 others(4): Show |
10 | HG01071.hp1 HG01074.hp2 HG01099.hp2 others(7): Show |
intron_variant | MODIFIER | c.92-4777C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51970488 | |||||||
| chr12:51970568 | G | C | 4 | a0001c0001t0002g0036 a0001c0001t0002g0051 a0001c0001t0002g0052 others(1): Show |
4 | NA18962.hp1 NA18970.hp2 NA18978.hp1 others(1): Show |
intron_variant | MODIFIER | c.92-4697G>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51970568 | |||||||
| chr12:51970681 | G | T | 1 | a0001c0001t0030g0136 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.92-4584G>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51970681 | |||||||
| chr12:51971076 | C | T | 2 | a0001c0005t0020g0278 a0001c0005t0020g0279 |
2 | HG02895.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.92-4189C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51971076 | |||||||
| chr12:51971483 | G | A | 3 | a0001c0001t0026g0276 a0001c0004t0013g0029 a0001c0004t0013g0258 |
4 | HG02896.hp1 HG02897.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.92-3782G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51971483 | |||||||
| chr12:51971523 | T | G | 1 | a0001c0001t0001g0176 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.92-3742T>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51971523 | |||||||
| chr12:51971583 | T | G | 20 | a0001c0001t0002g0143 a0001c0001t0003g0005 a0001c0001t0003g0015 others(17): Show |
24 | HG01167.hp2 HG01169.hp2 HG01346.hp2 others(21): Show |
intron_variant | MODIFIER | c.92-3682T>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51971583 | |||||||
| chr12:51971656 | T | C | 3 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 |
3 | NA18990.hp2 NA19000.hp2 NA19070.hp1 |
intron_variant | MODIFIER | c.92-3609T>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51971656 | |||||||
| chr12:51971805 | A | G | 1 | a0001c0001t0002g0280 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.92-3460A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51971805 | |||||||
| chr12:51971959 | T | G | 1 | a0001c0001t0002g0082 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.92-3306T>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51971959 | |||||||
| chr12:51972475 | C | G | 2 | a0001c0001t0002g0016 a0001c0001t0002g0152 |
3 | NA18975.hp1 NA19074.hp2 NA19077.hp1 |
intron_variant | MODIFIER | c.92-2790C>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51972475 | |||||||
| chr12:51972604 | C | T | 3 | a0001c0001t0001g0191 a0001c0001t0001g0240 a0001c0001t0001g0241 |
3 | HG02818.hp2 HG02886.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.92-2661C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51972604 | |||||||
| chr12:51972668 | C | G | 1 | a0001c0001t0029g0269 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.92-2597C>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51972668 | |||||||
| chr12:51972688 | A | G | 1 | a0001c0001t0002g0101 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.92-2577A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51972688 | |||||||
| chr12:51972890 | T | G | 3 | a0001c0001t0015g0112 a0001c0001t0015g0113 a0001c0001t0015g0286 |
3 | HG01106.hp2 HG01167.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.92-2375T>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51972890 | |||||||
| chr12:51972970 | C | A | 1 | a0001c0001t0002g0054 | 1 | NA18987.hp2 | intron_variant | MODIFIER | c.92-2295C>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51972970 | |||||||
| chr12:51973001 | G | A | 1 | a0001c0001t0001g0199 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.92-2264G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51973001 | |||||||
| chr12:51973405 | G | C | 3 | a0001c0001t0026g0276 a0001c0004t0013g0029 a0001c0004t0013g0258 |
4 | HG02896.hp1 HG02897.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.92-1860G>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51973405 | |||||||
| chr12:51973871 | C | T | 1 | a0001c0001t0004g0130 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.92-1394C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51973871 | |||||||
| chr12:51974188 | G | T | 1 | a0001c0001t0011g0141 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.92-1077G>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51974188 | |||||||
| chr12:51974205 | C | T | 1 | a0001c0001t0023g0239 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.92-1060C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51974205 | |||||||
| chr12:51974273 | G | A | 5 | a0001c0001t0002g0280 a0001c0002t0002g0004 a0001c0002t0002g0127 others(2): Show |
6 | HG02055.hp1 HG02630.hp1 HG02717.hp2 others(3): Show |
intron_variant | MODIFIER | c.92-992G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51974273 | |||||||
| chr12:51974447 | TACCC | T | 4 | a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 others(1): Show |
4 | HG00738.hp2 HG01258.hp2 HG02109.hp2 others(1): Show |
intron_variant | MODIFIER | c.92-816_92-813delCC others(2): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | 51974447 | ||||||
| chr12:51974508 | CGT | C | 120 | a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0010 others(117): Show |
135 | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(132): Show |
intron_variant | MODIFIER | c.92-743_92-742delTG | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | 51974508 | ||||||
| chr12:51974509 | G | T | 2 | a0001c0001t0001g0191 a0001c0001t0001g0241 |
2 | HG02818.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.92-756G>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51974509 | |||||||
| chr12:51974529 | G | A | 1 | a0001c0005t0020g0278 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.92-736G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51974529 | |||||||
| chr12:51974592 | T | C | 1 | a0001c0001t0001g0200 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.92-673T>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51974592 | |||||||
| chr12:51974644 | G | A | 98 | a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0010 others(95): Show |
108 | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(105): Show |
intron_variant | MODIFIER | c.92-621G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51974644 | |||||||
| chr12:51974762 | C | T | 3 | a0001c0001t0015g0112 a0001c0001t0015g0113 a0001c0001t0015g0286 |
3 | HG01106.hp2 HG01167.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.92-503C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | chr12 | 51974762 | |||||||
| chr12:51975516 | C | T | 121 | a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0010 others(118): Show |
136 | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(133): Show |
intron_variant | MODIFIER | c.331+12C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 2/8 | chr12 | 51975516 | |||||||
| chr12:51975607 | A | G | 1 | a0001c0001t0002g0277 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.331+103A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 2/8 | chr12 | 51975607 | |||||||
| chr12:51975718 | G | A | 1 | a0001c0001t0001g0201 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.331+214G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 2/8 | chr12 | 51975718 | |||||||
| chr12:51975756 | G | A | 1 | a0001c0001t0006g0155 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.331+252G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 2/8 | chr12 | 51975756 | |||||||
| chr12:51975790 | C | T | 1 | a0001c0001t0001g0238 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.331+286C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 2/8 | chr12 | 51975790 | |||||||
| chr12:51975831 | G | T | 1 | a0001c0001t0002g0280 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.331+327G>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 2/8 | chr12 | 51975831 | |||||||
| chr12:51976123 | A | C | 1 | a0001c0001t0006g0018 | 2 | HG01884.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.332-204A>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 2/8 | chr12 | 51976123 | |||||||
| chr12:51976172 | G | GA | 164 | a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0010 others(161): Show |
180 | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(177): Show |
intron_variant | MODIFIER | c.332-155_332-154ins others(1): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 2/8 | chr12 | 51976172 | |||||||
| chr12:51976586 | C | A | 3 | a0001c0001t0002g0009 a0001c0001t0002g0083 a0001c0001t0002g0084 |
4 | HG03490.hp2 HG03688.hp2 HG04228.hp2 others(1): Show |
intron_variant | MODIFIER | c.580+11C>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | chr12 | 51976586 | |||||||
| chr12:51976635 | T | C | 2 | a0001c0005t0020g0278 a0001c0005t0020g0279 |
2 | HG02895.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.580+60T>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | chr12 | 51976635 | |||||||
| chr12:51976662 | C | T | 1 | a0001c0001t0002g0041 | 1 | NA18972.hp2 | intron_variant | MODIFIER | c.580+87C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | chr12 | 51976662 | |||||||
| chr12:51976966 | T | G | 1 | a0001c0001t0002g0277 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.580+391T>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | chr12 | 51976966 | |||||||
| chr12:51977040 | T | C | 3 | a0001c0001t0015g0112 a0001c0001t0015g0113 a0001c0001t0015g0286 |
3 | HG01106.hp2 HG01167.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.580+465T>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | chr12 | 51977040 | |||||||
| chr12:51977067 | G | A | 23 | a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0004g0119 others(20): Show |
23 | HG01109.hp1 HG02145.hp2 HG02257.hp2 others(20): Show |
intron_variant | MODIFIER | c.580+492G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | chr12 | 51977067 | |||||||
| chr12:51977202 | G | A | 1 | a0001c0001t0029g0269 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.580+627G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | chr12 | 51977202 | |||||||
| chr12:51977270 | T | C | 3 | a0001c0001t0026g0276 a0001c0004t0013g0029 a0001c0004t0013g0258 |
4 | HG02896.hp1 HG02897.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.580+695T>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | chr12 | 51977270 | |||||||
| chr12:51977508 | G | T | 3 | a0001c0001t0015g0112 a0001c0001t0015g0113 a0001c0001t0015g0286 |
3 | HG01106.hp2 HG01167.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.580+933G>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | chr12 | 51977508 | |||||||
| chr12:51977557 | T | A | 121 | a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0010 others(118): Show |
136 | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(133): Show |
intron_variant | MODIFIER | c.580+982T>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | chr12 | 51977557 | |||||||
| chr12:51977607 | C | CT | 53 | a0001c0001t0001g0030 a0001c0001t0001g0042 a0001c0001t0001g0178 others(50): Show |
58 | HG00544.hp2 HG00609.hp1 HG00609.hp2 others(55): Show |
intron_variant | MODIFIER | c.580+1053dupT | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | 51977607 | ||||||
| chr12:51977607 | CT | C | 9 | a0001c0001t0001g0202 a0001c0001t0002g0107 a0001c0001t0002g0277 others(6): Show |
10 | HG01109.hp1 HG01515.hp1 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.580+1053delT | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | 51977607 | ||||||
| chr12:51977783 | A | AT | 51 | a0001c0001t0001g0027 a0001c0001t0001g0042 a0001c0001t0001g0122 others(48): Show |
57 | HG00544.hp2 HG00597.hp1 HG00621.hp2 others(54): Show |
intron_variant | MODIFIER | c.580+1231dupT | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | 51977783 | ||||||
| chr12:51977783 | A | ATT | 6 | a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0003g0138 others(3): Show |
7 | HG01106.hp1 HG01175.hp2 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.580+1230_580+1231d others(4): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | 51977783 | ||||||
| chr12:51977783 | AT | A | 14 | a0001c0001t0001g0203 a0001c0001t0002g0051 a0001c0001t0003g0166 others(11): Show |
15 | HG00323.hp1 HG00323.hp2 HG01496.hp1 others(12): Show |
intron_variant | MODIFIER | c.580+1231delT | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | 51977783 | ||||||
| chr12:51977847 | C | A | 3 | a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0004g0119 |
3 | HG02818.hp1 HG02895.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.580+1272C>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | chr12 | 51977847 | |||||||
| chr12:51978051 | T | C | 1 | a0001c0001t0001g0233 | 1 | NA18944.hp2 | intron_variant | MODIFIER | c.580+1476T>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | chr12 | 51978051 | |||||||
| chr12:51978516 | T | C | 3 | a0001c0001t0015g0112 a0001c0001t0015g0113 a0001c0001t0015g0286 |
3 | HG01106.hp2 HG01167.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.580+1941T>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | chr12 | 51978516 | |||||||
| chr12:51978681 | A | G | 4 | a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0001t0004g0283 others(1): Show |
4 | HG01109.hp1 HG02647.hp2 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.580+2106A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | chr12 | 51978681 | |||||||
| chr12:51978687 | C | T | 6 | a0001c0001t0003g0138 a0001c0001t0009g0017 a0001c0001t0009g0159 others(3): Show |
7 | HG00280.hp1 HG01074.hp1 HG01099.hp1 others(4): Show |
intron_variant | MODIFIER | c.580+2112C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | chr12 | 51978687 | |||||||
| chr12:51978699 | C | CG | 280 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0019 others(277): Show |
316 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(313): Show |
intron_variant | MODIFIER | c.580+2126dupG | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | 51978699 | ||||||
| chr12:51978829 | C | CA | 28 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0180 others(25): Show |
29 | HG00738.hp2 HG01168.hp2 HG01358.hp1 others(26): Show |
intron_variant | MODIFIER | c.581-2120dupA | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | 51978829 | ||||||
| chr12:51978829 | CA | C | 9 | a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 others(6): Show |
10 | HG02055.hp1 HG02630.hp1 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.581-2120delA | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | 51978829 | ||||||
| chr12:51978861 | G | T | 1 | a0001c0004t0013g0258 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.581-2108G>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | chr12 | 51978861 | |||||||
| chr12:51979163 | C | CA | 146 | a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0198 others(143): Show |
161 | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(158): Show |
intron_variant | MODIFIER | c.581-1786dupA | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | 51979163 | ||||||
| chr12:51979163 | C | CAA | 12 | a0001c0001t0002g0031 a0001c0001t0002g0034 a0001c0001t0002g0054 others(9): Show |
12 | HG01891.hp1 HG01891.hp2 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.581-1787_581-1786d others(4): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | 51979163 | ||||||
| chr12:51979197 | G | A | 1 | a0001c0001t0018g0115 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.581-1772G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | chr12 | 51979197 | |||||||
| chr12:51979236 | C | CG | 9 | a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 others(6): Show |
10 | HG02055.hp1 HG02630.hp1 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.581-1730dupG | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | 51979236 | ||||||
| chr12:51979296 | A | G | 3 | a0001c0001t0015g0112 a0001c0001t0015g0113 a0001c0001t0015g0286 |
3 | HG01106.hp2 HG01167.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.581-1673A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | chr12 | 51979296 | |||||||
| chr12:51979355 | T | C | 1 | a0001c0001t0010g0074 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.581-1614T>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | chr12 | 51979355 | |||||||
| chr12:51979466 | C | CA | 229 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0019 others(226): Show |
261 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(258): Show |
intron_variant | MODIFIER | c.581-1486dupA | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | 51979466 | ||||||
| chr12:51979466 | C | CAA | 7 | a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 others(4): Show |
7 | HG01106.hp1 HG01168.hp2 HG01175.hp2 others(4): Show |
intron_variant | MODIFIER | c.581-1487_581-1486d others(4): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | 51979466 | ||||||
| chr12:51979600 | A | G | 8 | a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 others(5): Show |
9 | HG02055.hp1 HG02630.hp1 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.581-1369A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | chr12 | 51979600 | |||||||
| chr12:51979913 | T | C | 1 | a0001c0001t0001g0189 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.581-1056T>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | chr12 | 51979913 | |||||||
| chr12:51980146 | C | T | 1 | a0001c0001t0006g0158 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.581-823C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | chr12 | 51980146 | |||||||
| chr12:51980423 | A | G | 5 | a0001c0001t0008g0001 a0001c0001t0008g0204 a0001c0001t0008g0229 others(2): Show |
8 | HG00323.hp2 HG00741.hp1 HG01071.hp2 others(5): Show |
intron_variant | MODIFIER | c.581-546A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | chr12 | 51980423 | |||||||
| chr12:51980587 | T | G | 3 | a0001c0001t0001g0199 a0001c0001t0006g0215 a0001c0001t0024g0214 |
3 | HG02132.hp1 HG02523.hp2 NA18747.hp1 |
intron_variant | MODIFIER | c.581-382T>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | chr12 | 51980587 | |||||||
| chr12:51980633 | C | T | 1 | a0001c0001t0001g0228 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.581-336C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | chr12 | 51980633 | |||||||
| chr12:51980703 | C | G | 3 | a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 |
3 | HG02055.hp2 HG02280.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.581-266C>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | chr12 | 51980703 | |||||||
| chr12:51980710 | G | A | 1 | a0001c0001t0002g0058 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.581-259G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | chr12 | 51980710 | |||||||
| chr12:51980873 | C | G | 2 | a0001c0005t0020g0278 a0001c0005t0020g0279 |
2 | HG02895.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.581-96C>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | chr12 | 51980873 | |||||||
| chr12:51981253 | G | A | 3 | a0001c0001t0015g0112 a0001c0001t0015g0113 a0001c0001t0015g0286 |
3 | HG01106.hp2 HG01167.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.811+54G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 4/8 | chr12 | 51981253 | |||||||
| chr12:51981602 | C | T | 20 | a0001c0001t0002g0143 a0001c0001t0003g0005 a0001c0001t0003g0015 others(17): Show |
24 | HG01167.hp2 HG01169.hp2 HG01346.hp2 others(21): Show |
intron_variant | MODIFIER | c.811+403C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 4/8 | chr12 | 51981602 | |||||||
| chr12:51981661 | A | G | 1 | a0001c0001t0030g0136 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.811+462A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 4/8 | chr12 | 51981661 | |||||||
| chr12:51981843 | C | T | 1 | a0001c0001t0015g0286 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.811+644C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 4/8 | chr12 | 51981843 | |||||||
| chr12:51981848 | CA | C | 157 | a0001c0001t0001g0197 a0001c0001t0002g0003 a0001c0001t0002g0009 others(154): Show |
174 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(171): Show |
intron_variant | MODIFIER | c.811+662delA | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr12 | 51981848 | ||||||
| chr12:51981892 | C | G | 1 | a0001c0001t0006g0018 | 2 | HG01884.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.811+693C>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 4/8 | chr12 | 51981892 | |||||||
| chr12:51982739 | C | T | 2 | a0001c0001t0001g0142 a0001c0001t0001g0247 |
2 | HG00544.hp1 NA18946.hp1 |
intron_variant | MODIFIER | c.812-1260C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 4/8 | chr12 | 51982739 | |||||||
| chr12:51982883 | T | C | 6 | a0001c0001t0002g0036 a0001c0001t0002g0051 a0001c0001t0002g0052 others(3): Show |
6 | NA18943.hp2 NA18962.hp1 NA18970.hp2 others(3): Show |
intron_variant | MODIFIER | c.812-1116T>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 4/8 | chr12 | 51982883 | |||||||
| chr12:51983028 | T | A | 28 | a0001c0001t0002g0280 a0001c0001t0004g0117 a0001c0001t0004g0118 others(25): Show |
29 | HG01109.hp1 HG02055.hp1 HG02145.hp2 others(26): Show |
intron_variant | MODIFIER | c.812-971T>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 4/8 | chr12 | 51983028 | |||||||
| chr12:51983212 | G | C | 4 | a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 others(1): Show |
4 | HG02647.hp1 HG03209.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.812-787G>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 4/8 | chr12 | 51983212 | |||||||
| chr12:51983268 | C | G | 3 | a0001c0001t0015g0112 a0001c0001t0015g0113 a0001c0001t0015g0286 |
3 | HG01106.hp2 HG01167.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.812-731C>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 4/8 | chr12 | 51983268 | |||||||
| chr12:51983346 | T | G | 3 | a0001c0001t0012g0151 a0001c0001t0012g0153 a0001c0001t0012g0163 |
3 | HG02258.hp2 HG02976.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.812-653T>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 4/8 | chr12 | 51983346 | |||||||
| chr12:51983467 | G | T | 2 | a0001c0001t0002g0097 a0001c0001t0002g0098 |
2 | HG00438.hp2 HG02071.hp2 |
intron_variant | MODIFIER | c.812-532G>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 4/8 | chr12 | 51983467 | |||||||
| chr12:51983518 | T | C | 1 | a0001c0001t0006g0018 | 2 | HG01884.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.812-481T>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 4/8 | chr12 | 51983518 | |||||||
| chr12:51983795 | G | A | 1 | a0001c0001t0009g0160 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.812-204G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 4/8 | chr12 | 51983795 | |||||||
| chr12:51984383 | C | T | 1 | a0001c0001t0002g0073 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.979+217C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 5/8 | chr12 | 51984383 | |||||||
| chr12:51984395 | A | G | 1 | a0001c0001t0001g0173 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.979+229A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 5/8 | chr12 | 51984395 | |||||||
| chr12:51984661 | A | G | 1 | a0001c0001t0001g0185 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.979+495A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 5/8 | chr12 | 51984661 | |||||||
| chr12:51985102 | G | T | 3 | a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 |
3 | HG02647.hp1 HG03516.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.980-90G>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 5/8 | chr12 | 51985102 | |||||||
| chr12:51985149 | T | C | 3 | a0001c0001t0026g0276 a0001c0004t0013g0029 a0001c0004t0013g0258 |
4 | HG02896.hp1 HG02897.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.980-43T>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 5/8 | chr12 | 51985149 | |||||||
| chr12:51985440 | T | C | 3 | a0001c0001t0015g0112 a0001c0001t0015g0113 a0001c0001t0015g0286 |
3 | HG01106.hp2 HG01167.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.1136+92T>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 6/8 | chr12 | 51985440 | |||||||
| chr12:51985454 | A | G | 98 | a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0010 others(95): Show |
108 | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(105): Show |
intron_variant | MODIFIER | c.1136+106A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 6/8 | chr12 | 51985454 | |||||||
| chr12:51985497 | C | T | 1 | a0001c0001t0012g0153 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1136+149C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 6/8 | chr12 | 51985497 | |||||||
| chr12:51985582 | T | A | 1 | a0001c0001t0002g0031 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1136+234T>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 6/8 | chr12 | 51985582 | |||||||
| chr12:51985805 | T | C | 2 | a0001c0006t0016g0273 a0001c0006t0016g0274 |
2 | HG02451.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.1136+457T>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 6/8 | chr12 | 51985805 | |||||||
| chr12:51985913 | G | A | 1 | a0001c0001t0001g0216 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.1136+565G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 6/8 | chr12 | 51985913 | |||||||
| chr12:51986070 | A | G | 42 | a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0021 others(39): Show |
54 | HG00323.hp2 HG00621.hp1 HG00639.hp1 others(51): Show |
intron_variant | MODIFIER | c.1136+722A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 6/8 | chr12 | 51986070 | |||||||
| chr12:51986336 | G | A | 1 | a0001c0001t0026g0276 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1137-482G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 6/8 | chr12 | 51986336 | |||||||
| chr12:51986407 | T | C | 1 | a0001c0001t0001g0262 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.1137-411T>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 6/8 | chr12 | 51986407 | |||||||
| chr12:51986443 | A | G | 1 | a0001c0001t0003g0146 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.1137-375A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 6/8 | chr12 | 51986443 | |||||||
| chr12:51986596 | A | G | 8 | a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 others(5): Show |
9 | HG02055.hp1 HG02630.hp1 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.1137-222A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 6/8 | chr12 | 51986596 | |||||||
| chr12:51986655 | A | G | 1 | a0001c0001t0001g0195 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.1137-163A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 6/8 | chr12 | 51986655 | |||||||
| chr12:51987114 | G | A | 14 | a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0004g0119 others(11): Show |
14 | HG02145.hp2 HG02257.hp2 HG02486.hp2 others(11): Show |
intron_variant | MODIFIER | c.1261+172G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | chr12 | 51987114 | |||||||
| chr12:51987190 | TAAAC | T | 9 | a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0082 others(6): Show |
9 | HG00673.hp1 HG01081.hp2 HG01496.hp1 others(6): Show |
intron_variant | MODIFIER | c.1261+258_1261+261d others(6): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr12 | 51987190 | ||||||
| chr12:51987227 | G | A | 1 | a0001c0001t0002g0132 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1261+285G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | chr12 | 51987227 | |||||||
| chr12:51987242 | C | A | 135 | a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0010 others(132): Show |
150 | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(147): Show |
intron_variant | MODIFIER | c.1261+300C>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | chr12 | 51987242 | |||||||
| chr12:51987299 | C | T | 1 | a0001c0001t0002g0109 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1261+357C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | chr12 | 51987299 | |||||||
| chr12:51987446 | G | T | 134 | a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0010 others(131): Show |
149 | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(146): Show |
intron_variant | MODIFIER | c.1261+504G>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | chr12 | 51987446 | |||||||
| chr12:51988220 | C | T | 1 | a0001c0001t0029g0269 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.1261+1278C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | chr12 | 51988220 | |||||||
| chr12:51988266 | C | T | 3 | a0001c0001t0002g0009 a0001c0001t0002g0083 a0001c0001t0002g0084 |
4 | HG03490.hp2 HG03688.hp2 HG04228.hp2 others(1): Show |
intron_variant | MODIFIER | c.1261+1324C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | chr12 | 51988266 | |||||||
| chr12:51988593 | A | T | 6 | a0001c0001t0001g0023 a0001c0001t0001g0195 a0001c0001t0001g0208 others(3): Show |
8 | HG00621.hp1 NA18943.hp1 NA18952.hp2 others(5): Show |
intron_variant | MODIFIER | c.1261+1651A>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | chr12 | 51988593 | |||||||
| chr12:51988753 | C | T | 1 | a0001c0001t0002g0280 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1261+1811C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | chr12 | 51988753 | |||||||
| chr12:51988923 | G | A | 2 | a0001c0001t0001g0209 a0001c0001t0001g0257 |
2 | NA18963.hp2 NA19054.hp1 |
intron_variant | MODIFIER | c.1261+1981G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | chr12 | 51988923 | |||||||
| chr12:51989003 | G | A | 3 | a0001c0001t0015g0112 a0001c0001t0015g0113 a0001c0001t0015g0286 |
3 | HG01106.hp2 HG01167.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.1261+2061G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | chr12 | 51989003 | |||||||
| chr12:51989041 | G | C | 2 | a0001c0001t0007g0254 a0001c0001t0007g0255 |
2 | NA18951.hp1 NA18995.hp1 |
intron_variant | MODIFIER | c.1261+2099G>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | chr12 | 51989041 | |||||||
| chr12:51989294 | T | A | 2 | a0001c0004t0013g0029 a0001c0004t0013g0258 |
3 | HG02896.hp1 HG02897.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.1261+2352T>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | chr12 | 51989294 | |||||||
| chr12:51989443 | G | C | 196 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0019 others(193): Show |
224 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(221): Show |
intron_variant | MODIFIER | c.1262-2420G>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | chr12 | 51989443 | |||||||
| chr12:51989445 | G | C | 196 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0019 others(193): Show |
224 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(221): Show |
intron_variant | MODIFIER | c.1262-2418G>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | chr12 | 51989445 | |||||||
| chr12:51989510 | C | T | 1 | a0001c0001t0004g0121 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1262-2353C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | chr12 | 51989510 | |||||||
| chr12:51989535 | T | G | 1 | a0001c0001t0003g0145 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.1262-2328T>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | chr12 | 51989535 | |||||||
| chr12:51989709 | G | A | 1 | a0001c0001t0003g0146 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.1262-2154G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | chr12 | 51989709 | |||||||
| chr12:51989857 | C | T | 144 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0019 others(141): Show |
165 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(162): Show |
intron_variant | MODIFIER | c.1262-2006C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | chr12 | 51989857 | |||||||
| chr12:51989901 | C | T | 1 | a0001c0001t0002g0095 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.1262-1962C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | chr12 | 51989901 | |||||||
| chr12:51989991 | G | GA | 7 | a0001c0001t0001g0207 a0001c0001t0007g0125 a0001c0001t0009g0017 others(4): Show |
8 | HG00280.hp1 HG01074.hp1 HG01099.hp1 others(5): Show |
intron_variant | MODIFIER | c.1262-1863dupA | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr12 | 51989991 | ||||||
| chr12:51989993 | A | G | 1 | a0001c0001t0012g0151 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.1262-1870A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | chr12 | 51989993 | |||||||
| chr12:51989996 | A | C | 1 | a0001c0001t0002g0094 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.1262-1867A>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | chr12 | 51989996 | |||||||
| chr12:51990020 | G | A | 3 | a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 |
3 | HG02647.hp1 HG03516.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1262-1843G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | chr12 | 51990020 | |||||||
| chr12:51990122 | C | A | 1 | a0001c0004t0013g0029 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1262-1741C>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | chr12 | 51990122 | |||||||
| chr12:51990139 | C | T | 2 | a0001c0001t0002g0093 a0001c0006t0016g0274 |
2 | HG02451.hp2 NA18962.hp2 |
intron_variant | MODIFIER | c.1262-1724C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | chr12 | 51990139 | |||||||
| chr12:51990145 | T | C | 2 | a0001c0001t0002g0041 a0001c0001t0002g0100 |
2 | NA18972.hp2 NA19090.hp2 |
intron_variant | MODIFIER | c.1262-1718T>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | chr12 | 51990145 | |||||||
| chr12:51990242 | G | A | 3 | a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 |
3 | HG02647.hp1 HG03516.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1262-1621G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | chr12 | 51990242 | |||||||
| chr12:51990250 | G | A | 1 | a0001c0004t0013g0258 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1262-1613G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | chr12 | 51990250 | |||||||
| chr12:51990263 | A | T | 1 | a0001c0001t0002g0095 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.1262-1600A>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | chr12 | 51990263 | |||||||
| chr12:51990312 | C | CT | 221 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0019 others(218): Show |
257 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(254): Show |
intron_variant | MODIFIER | c.1262-1529dupT | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr12 | 51990312 | ||||||
| chr12:51990312 | C | CTT | 53 | a0001c0001t0001g0042 a0001c0001t0001g0142 a0001c0001t0001g0186 others(50): Show |
54 | HG00438.hp1 HG00544.hp1 HG00544.hp2 others(51): Show |
intron_variant | MODIFIER | c.1262-1530_1262-152 others(6): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr12 | 51990312 | ||||||
| chr12:51990338 | A | G | 1 | a0001c0001t0001g0122 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.1262-1525A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | chr12 | 51990338 | |||||||
| chr12:51990361 | C | G | 2 | a0001c0001t0002g0016 a0001c0001t0002g0152 |
3 | NA18975.hp1 NA19074.hp2 NA19077.hp1 |
intron_variant | MODIFIER | c.1262-1502C>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | chr12 | 51990361 | |||||||
| chr12:51990569 | G | A | 121 | a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0010 others(118): Show |
136 | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(133): Show |
intron_variant | MODIFIER | c.1262-1294G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | chr12 | 51990569 | |||||||
| chr12:51990602 | C | T | 31 | a0001c0001t0001g0006 a0001c0001t0001g0025 a0001c0001t0001g0142 others(28): Show |
35 | HG00544.hp1 HG00558.hp1 HG00558.hp2 others(32): Show |
intron_variant | MODIFIER | c.1262-1261C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | chr12 | 51990602 | |||||||
| chr12:51990910 | C | G | 1 | a0001c0001t0007g0125 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.1262-953C>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | chr12 | 51990910 | |||||||
| chr12:51990927 | T | A | 3 | a0001c0001t0001g0207 a0001c0001t0001g0223 a0001c0001t0001g0224 |
3 | HG02056.hp2 HG02132.hp2 NA19076.hp1 |
intron_variant | MODIFIER | c.1262-936T>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | chr12 | 51990927 | |||||||
| chr12:51991006 | A | C | 1 | a0001c0001t0001g0222 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.1262-857A>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | chr12 | 51991006 | |||||||
| chr12:51991027 | C | T | 120 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0019 others(117): Show |
141 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(138): Show |
intron_variant | MODIFIER | c.1262-836C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | chr12 | 51991027 | |||||||
| chr12:51991095 | T | C | 1 | a0001c0001t0030g0136 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1262-768T>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | chr12 | 51991095 | |||||||
| chr12:51991325 | C | A | 3 | a0001c0001t0015g0112 a0001c0001t0015g0113 a0001c0001t0015g0286 |
3 | HG01106.hp2 HG01167.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.1262-538C>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | chr12 | 51991325 | |||||||
| chr12:51991424 | CAG | C | 18 | a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 others(15): Show |
21 | HG01168.hp1 HG01169.hp1 HG01192.hp1 others(18): Show |
intron_variant | MODIFIER | c.1262-436_1262-435d others(4): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr12 | 51991424 | ||||||
| chr12:51991591 | G | A | 1 | a0001c0001t0001g0122 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.1262-272G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | chr12 | 51991591 | |||||||
| chr12:51991825 | C | T | 3 | a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 |
3 | HG02647.hp1 HG03516.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1262-38C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | chr12 | 51991825 | |||||||
| chr12:51992144 | C | T | 1 | a0001c0001t0001g0224 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.1392+151C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | chr12 | 51992144 | |||||||
| chr12:51992158 | T | C | 4 | a0001c0001t0009g0017 a0001c0001t0009g0159 a0001c0001t0009g0160 others(1): Show |
5 | HG00280.hp1 HG01074.hp1 HG01099.hp1 others(2): Show |
intron_variant | MODIFIER | c.1392+165T>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | chr12 | 51992158 | |||||||
| chr12:51992177 | T | A | 1 | a0001c0001t0001g0178 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.1392+184T>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | chr12 | 51992177 | |||||||
| chr12:51992242 | G | A | 1 | a0001c0001t0001g0238 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.1392+249G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | chr12 | 51992242 | |||||||
| chr12:51992473 | C | T | 1 | a0001c0001t0029g0269 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.1392+480C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | chr12 | 51992473 | |||||||
| chr12:51992493 | C | A | 3 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 |
3 | NA18990.hp2 NA19000.hp2 NA19070.hp1 |
intron_variant | MODIFIER | c.1392+500C>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | chr12 | 51992493 | |||||||
| chr12:51992527 | C | T | 4 | a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 others(1): Show |
4 | HG00738.hp2 HG01258.hp2 HG02109.hp2 others(1): Show |
intron_variant | MODIFIER | c.1392+534C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | chr12 | 51992527 | |||||||
| chr12:51992566 | A | G | 1 | a0001c0001t0002g0032 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1392+573A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | chr12 | 51992566 | |||||||
| chr12:51992591 | A | G | 1 | a0001c0001t0002g0143 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.1392+598A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | chr12 | 51992591 | |||||||
| chr12:51992797 | G | A | 5 | a0001c0001t0009g0017 a0001c0001t0009g0159 a0001c0001t0009g0160 others(2): Show |
6 | HG00280.hp1 HG01074.hp1 HG01099.hp1 others(3): Show |
intron_variant | MODIFIER | c.1392+804G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | chr12 | 51992797 | |||||||
| chr12:51992876 | CTAA | C | 3 | a0001c0001t0015g0112 a0001c0001t0015g0113 a0001c0001t0015g0286 |
3 | HG01106.hp2 HG01167.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.1392+887_1392+889d others(5): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | 51992876 | ||||||
| chr12:51993073 | T | G | 1 | a0001c0003t0002g0013 | 2 | HG01884.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.1393-912T>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | chr12 | 51993073 | |||||||
| chr12:51993133 | G | A | 1 | a0001c0001t0001g0192 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.1393-852G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | chr12 | 51993133 | |||||||
| chr12:51993137 | G | A | 1 | a0001c0001t0002g0277 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1393-848G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | chr12 | 51993137 | |||||||
| chr12:51993531 | G | A | 3 | a0001c0001t0015g0112 a0001c0001t0015g0113 a0001c0001t0015g0286 |
3 | HG01106.hp2 HG01167.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.1393-454G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | chr12 | 51993531 | |||||||
| chr12:51993553 | G | A | 121 | a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0010 others(118): Show |
136 | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(133): Show |
intron_variant | MODIFIER | c.1393-432G>A | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | chr12 | 51993553 | |||||||
| chr12:51993749 | A | G | 1 | a0001c0001t0015g0286 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1393-236A>G | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | chr12 | 51993749 | |||||||
| chr12:51993765 | T | TA | 18 | a0001c0001t0002g0010 a0001c0001t0002g0038 a0001c0001t0002g0048 others(15): Show |
19 | HG00741.hp2 HG01168.hp1 HG01169.hp1 others(16): Show |
intron_variant | MODIFIER | c.1393-181dupA | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | 51993765 | ||||||
| chr12:51993765 | T | TAA | 12 | a0001c0001t0002g0049 a0001c0001t0002g0057 a0001c0001t0002g0061 others(9): Show |
12 | HG00438.hp1 HG00735.hp1 HG01071.hp1 others(9): Show |
intron_variant | MODIFIER | c.1393-182_1393-181d others(4): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | 51993765 | ||||||
| chr12:51993765 | T | TAAA | 6 | a0001c0001t0002g0051 a0001c0001t0002g0056 a0001c0001t0002g0073 others(3): Show |
6 | HG00738.hp1 HG01361.hp2 HG02293.hp2 others(3): Show |
intron_variant | MODIFIER | c.1393-183_1393-181d others(5): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | 51993765 | ||||||
| chr12:51993765 | T | TAAAA | 8 | a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0059 others(5): Show |
8 | HG00438.hp2 HG03654.hp2 NA18943.hp2 others(5): Show |
intron_variant | MODIFIER | c.1393-184_1393-181d others(6): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | 51993765 | ||||||
| chr12:51993765 | T | TAAAAAAA others(3): Show |
2 | a0001c0001t0002g0016 a0001c0001t0014g0088 |
3 | NA18992.hp1 NA19074.hp2 NA19077.hp1 |
intron_variant | MODIFIER | c.1393-190_1393-181d others(12): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | 51993765 | ||||||
| chr12:51993765 | T | TAAAAAAA others(4): Show |
3 | a0001c0001t0002g0035 a0001c0001t0002g0064 a0001c0001t0014g0039 |
3 | HG01255.hp1 NA18948.hp1 NA19082.hp2 |
intron_variant | MODIFIER | c.1393-191_1393-181d others(13): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | 51993765 | ||||||
| chr12:51993765 | T | TAAAAAAA others(9): Show |
1 | a0001c0001t0002g0108 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.1393-196_1393-181d others(18): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | 51993765 | ||||||
| chr12:51993765 | T | TAAAAAAA others(17): Show |
1 | a0001c0001t0002g0087 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.1393-204_1393-181d others(26): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | 51993765 | ||||||
| chr12:51993765 | TA | T | 10 | a0001c0001t0001g0026 a0001c0001t0001g0247 a0001c0001t0002g0086 others(7): Show |
11 | HG00544.hp1 HG02055.hp1 HG02071.hp1 others(8): Show |
intron_variant | MODIFIER | c.1393-181delA | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | 51993765 | ||||||
| chr12:51993765 | TAA | T | 11 | a0001c0001t0001g0174 a0001c0001t0001g0200 a0001c0001t0001g0203 others(8): Show |
12 | HG02129.hp1 HG02559.hp2 HG02717.hp2 others(9): Show |
intron_variant | MODIFIER | c.1393-182_1393-181d others(4): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | 51993765 | ||||||
| chr12:51993765 | TAAA | T | 16 | a0001c0001t0001g0025 a0001c0001t0001g0183 a0001c0001t0001g0205 others(13): Show |
17 | HG00597.hp2 HG00673.hp2 HG01081.hp1 others(14): Show |
intron_variant | MODIFIER | c.1393-183_1393-181d others(5): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | 51993765 | ||||||
| chr12:51993765 | TAAAA | T | 21 | a0001c0001t0001g0006 a0001c0001t0001g0020 a0001c0001t0001g0022 others(18): Show |
26 | HG00558.hp1 HG00558.hp2 HG00609.hp2 others(23): Show |
intron_variant | MODIFIER | c.1393-184_1393-181d others(6): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | 51993765 | ||||||
| chr12:51993765 | TAAAAA | T | 19 | a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0186 others(16): Show |
21 | HG00621.hp1 HG00639.hp1 HG02132.hp1 others(18): Show |
intron_variant | MODIFIER | c.1393-185_1393-181d others(7): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | 51993765 | ||||||
| chr12:51993765 | TAAAAAA | T | 29 | a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0030 others(26): Show |
32 | HG00544.hp2 HG00609.hp1 HG00621.hp2 others(29): Show |
intron_variant | MODIFIER | c.1393-186_1393-181d others(8): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | 51993765 | ||||||
| chr12:51993765 | TAAAAAAA | T | 33 | a0001c0001t0001g0007 a0001c0001t0001g0024 a0001c0001t0001g0050 others(30): Show |
40 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(37): Show |
intron_variant | MODIFIER | c.1393-187_1393-181d others(9): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | 51993765 | ||||||
| chr12:51993765 | TAAAAAAA others(1): Show |
T | 14 | a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0004g0118 others(11): Show |
16 | HG00280.hp1 HG01074.hp1 HG01099.hp1 others(13): Show |
intron_variant | MODIFIER | c.1393-188_1393-181d others(10): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | 51993765 | ||||||
| chr12:51993765 | TAAAAAAA others(2): Show |
T | 10 | a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0004g0119 others(7): Show |
10 | HG00738.hp2 HG02109.hp2 HG02647.hp2 others(7): Show |
intron_variant | MODIFIER | c.1393-189_1393-181d others(11): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | 51993765 | ||||||
| chr12:51993765 | TAAAAAAA others(3): Show |
T | 4 | a0001c0001t0015g0112 a0001c0001t0015g0113 a0001c0001t0015g0286 others(1): Show |
4 | HG01106.hp2 HG01167.hp1 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.1393-190_1393-181d others(12): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | 51993765 | ||||||
| chr12:51993765 | TAAAAAAA others(5): Show |
T | 3 | a0001c0001t0007g0124 a0001c0001t0007g0129 a0001c0001t0022g0271 |
3 | HG00323.hp1 HG02109.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.1393-192_1393-181d others(14): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | 51993765 | ||||||
| chr12:51993765 | TAAAAAAA others(6): Show |
T | 6 | a0001c0001t0007g0014 a0001c0001t0007g0116 a0001c0001t0007g0123 others(3): Show |
7 | HG02723.hp1 HG03453.hp2 HG03490.hp1 others(4): Show |
intron_variant | MODIFIER | c.1393-193_1393-181d others(15): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | 51993765 | ||||||
| chr12:51993765 | TAAAAAAA others(7): Show |
T | 5 | a0001c0001t0003g0139 a0001c0001t0003g0145 a0001c0001t0010g0069 others(2): Show |
5 | HG00733.hp1 HG02165.hp2 HG03540.hp1 others(2): Show |
intron_variant | MODIFIER | c.1393-194_1393-181d others(16): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | 51993765 | ||||||
| chr12:51993765 | TAAAAAAA others(8): Show |
T | 16 | a0001c0001t0002g0092 a0001c0001t0002g0143 a0001c0001t0003g0005 others(13): Show |
20 | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(17): Show |
intron_variant | MODIFIER | c.1393-195_1393-181d others(17): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | 51993765 | ||||||
| chr12:51993765 | TAAAAAAA others(10): Show |
T | 2 | a0001c0001t0002g0036 a0001c0001t0004g0270 |
2 | HG03098.hp1 NA18978.hp1 |
intron_variant | MODIFIER | c.1393-197_1393-181d others(19): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | 51993765 | ||||||
| chr12:51993765 | TAAAAAAA others(11): Show |
T | 3 | a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0083 |
3 | HG04228.hp2 NA18970.hp2 NA19060.hp2 |
intron_variant | MODIFIER | c.1393-198_1393-181d others(20): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | 51993765 | ||||||
| chr12:51993765 | TAAAAAAA others(12): Show |
T | 1 | a0001c0001t0005g0079 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.1393-199_1393-181d others(21): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | 51993765 | ||||||
| chr12:51993765 | TAAAAAAA others(13): Show |
T | 3 | a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 |
3 | HG02055.hp2 HG02280.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.1393-200_1393-181d others(22): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | 51993765 | ||||||
| chr12:51993765 | TAAAAAAA others(15): Show |
T | 2 | a0001c0001t0010g0070 a0001c0001t0029g0269 |
2 | HG01081.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.1393-202_1393-181d others(24): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | 51993765 | ||||||
| chr12:51993765 | TAAAAAAA others(16): Show |
T | 1 | a0001c0001t0002g0041 | 1 | NA18972.hp2 | intron_variant | MODIFIER | c.1393-203_1393-181d others(25): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | 51993765 | ||||||
| chr12:51993765 | TAAAAAAA others(19): Show |
T | 4 | a0001c0001t0002g0054 a0001c0001t0002g0063 a0001c0001t0002g0072 others(1): Show |
4 | HG00597.hp1 NA18951.hp2 NA18955.hp2 others(1): Show |
intron_variant | MODIFIER | c.1393-206_1393-181d others(28): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | 51993765 | ||||||
| chr12:51993784 | AAAAAAAA others(15): Show |
A | 1 | a0001c0001t0004g0121 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1393-198_1393-177d others(24): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | 51993784 | ||||||
| chr12:51993805 | G | C | 3 | a0001c0001t0015g0112 a0001c0001t0015g0113 a0001c0001t0015g0286 |
3 | HG01106.hp2 HG01167.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.1393-180G>C | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | chr12 | 51993805 | |||||||
| chr12:51993845 | C | T | 1 | a0001c0001t0002g0054 | 1 | NA18987.hp2 | intron_variant | MODIFIER | c.1393-140C>T | ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | chr12 | 51993845 |