Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 130399 |
| ensemblid | ENSG00000123612.16 |
| hgncid | 18123 |
| symbol | ACVR1C |
| name | activin A receptor type 1C |
| refseq_nuc | NM_145259.3 |
| refseq_prot | NP_660302.2 |
| ensembl_nuc | ENST00000243349.13 |
| ensembl_prot | ENSP00000243349.7 |
| mane_status | MANE Select |
| chr | chr2 |
| start | 157526767 |
| end | 157628864 |
| strand | - |
| ver | v1.2 |
| region | chr2:157526767-157628864 |
| region5000 | chr2:157521767-157633864 |
| regionname0 | ACVR1C_chr2_157526767_157628864 |
| regionname5000 | ACVR1C_chr2_157521767_157633864 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 493 | 152 | 41 | 27 | 48 | 14 | 20 | 30 | ACVR1C_chr2_157521767_157633864 | ACVR1C | MTRAL others(488): Show |
chr2 | 157521767 | 157633864 |
| a0002 | 0/0 | 493 | 62 | 49 | 13 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | MTRAL others(488): Show |
chr2 | 157521767 | 157633864 |
| a0003 | 0/0 | 493 | 2 | 0 | 0 | 0 | 2 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | MTRAL others(488): Show |
chr2 | 157521767 | 157633864 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 1479 | 75 | 18 | 17 | 22 | 5 | 11 | ACVR1C_chr2_157521767_157633864 | ACVR1C | ATGAC others(1474): Show |
chr2 | 157521767 | 157633864 | ||
| a0001c0002 | 0/0 | 1479 | 72 | 19 | 10 | 25 | 9 | 9 | ACVR1C_chr2_157521767_157633864 | ACVR1C | ATGAC others(1474): Show |
chr2 | 157521767 | 157633864 | ||
| a0001c0007 | 0/0 | 1479 | 2 | 2 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | ATGAC others(1474): Show |
chr2 | 157521767 | 157633864 | ||
| a0001c0009 | 0/0 | 1479 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | ATGAC others(1474): Show |
chr2 | 157521767 | 157633864 | ||
| a0001c0010 | 0/0 | 1479 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | ATGAC others(1474): Show |
chr2 | 157521767 | 157633864 | ||
| a0001c0012 | 0/0 | 1479 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | ATGAC others(1474): Show |
chr2 | 157521767 | 157633864 | ||
| a0002c0003 | 0/0 | 1479 | 48 | 36 | 12 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | ATGAC others(1474): Show |
chr2 | 157521767 | 157633864 | ||
| a0002c0004 | 0/0 | 1479 | 7 | 6 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | ATGAC others(1474): Show |
chr2 | 157521767 | 157633864 | ||
| a0002c0005 | 0/0 | 1479 | 3 | 3 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | ATGAC others(1474): Show |
chr2 | 157521767 | 157633864 | ||
| a0002c0008 | 0/0 | 1479 | 2 | 2 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | ATGAC others(1474): Show |
chr2 | 157521767 | 157633864 | ||
| a0002c0011 | 0/0 | 1479 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | ATGAC others(1474): Show |
chr2 | 157521767 | 157633864 | ||
| a0002c0013 | 0/0 | 1479 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | ATGAC others(1474): Show |
chr2 | 157521767 | 157633864 | ||
| a0003c0006 | 0/0 | 1479 | 2 | 0 | 0 | 0 | 2 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | ATGAC others(1474): Show |
chr2 | 157521767 | 157633864 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 8853 | 40 | 8 | 10 | 12 | 5 | 5 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8848): Show |
chr2 | 157521767 | 157633864 |
| a0001c0001t0003 | 1/0 | 8853 | 13 | 3 | 3 | 3 | 0 | 3 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8848): Show |
chr2 | 157521767 | 157633864 |
| a0001c0001t0004 | 0/0 | 8854 | 4 | 0 | 0 | 4 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8849): Show |
chr2 | 157521767 | 157633864 |
| a0001c0001t0005 | 0/0 | 8854 | 4 | 1 | 1 | 0 | 0 | 2 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8849): Show |
chr2 | 157521767 | 157633864 |
| a0001c0001t0008 | 0/0 | 8853 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8848): Show |
chr2 | 157521767 | 157633864 |
| a0001c0001t0011 | 0/0 | 8853 | 2 | 2 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8848): Show |
chr2 | 157521767 | 157633864 |
| a0001c0001t0012 | 0/0 | 8853 | 2 | 2 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8848): Show |
chr2 | 157521767 | 157633864 |
| a0001c0001t0022 | 0/0 | 8855 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8850): Show |
chr2 | 157521767 | 157633864 |
| a0001c0001t0029 | 0/0 | 8853 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8848): Show |
chr2 | 157521767 | 157633864 |
| a0001c0001t0030 | 0/0 | 8853 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8848): Show |
chr2 | 157521767 | 157633864 |
| a0001c0001t0032 | 0/0 | 8853 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8848): Show |
chr2 | 157521767 | 157633864 |
| a0001c0001t0033 | 0/0 | 8853 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8848): Show |
chr2 | 157521767 | 157633864 |
| a0001c0001t0034 | 0/0 | 8853 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8848): Show |
chr2 | 157521767 | 157633864 |
| a0001c0001t0035 | 0/0 | 8853 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8848): Show |
chr2 | 157521767 | 157633864 |
| a0001c0001t0036 | 0/1 | 8852 | 1 | 0 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8847): Show |
chr2 | 157521767 | 157633864 |
| a0001c0001t0037 | 0/0 | 8854 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8849): Show |
chr2 | 157521767 | 157633864 |
| a0001c0002t0001 | 0/0 | 8853 | 34 | 10 | 5 | 12 | 3 | 4 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8848): Show |
chr2 | 157521767 | 157633864 |
| a0001c0002t0003 | 0/0 | 8853 | 9 | 0 | 1 | 4 | 2 | 2 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8848): Show |
chr2 | 157521767 | 157633864 |
| a0001c0002t0004 | 0/0 | 8854 | 9 | 0 | 0 | 9 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8849): Show |
chr2 | 157521767 | 157633864 |
| a0001c0002t0005 | 0/0 | 8854 | 2 | 1 | 0 | 0 | 0 | 1 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8849): Show |
chr2 | 157521767 | 157633864 |
| a0001c0002t0008 | 0/0 | 8853 | 6 | 1 | 2 | 0 | 3 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8848): Show |
chr2 | 157521767 | 157633864 |
| a0001c0002t0014 | 0/0 | 8853 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8848): Show |
chr2 | 157521767 | 157633864 |
| a0001c0002t0015 | 0/0 | 8853 | 2 | 0 | 1 | 0 | 1 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8848): Show |
chr2 | 157521767 | 157633864 |
| a0001c0002t0016 | 0/0 | 8854 | 2 | 2 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8849): Show |
chr2 | 157521767 | 157633864 |
| a0001c0002t0018 | 0/0 | 8853 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8848): Show |
chr2 | 157521767 | 157633864 |
| a0001c0002t0019 | 0/0 | 8853 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8848): Show |
chr2 | 157521767 | 157633864 |
| a0001c0002t0023 | 0/0 | 8854 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8849): Show |
chr2 | 157521767 | 157633864 |
| a0001c0002t0024 | 0/0 | 8854 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8849): Show |
chr2 | 157521767 | 157633864 |
| a0001c0002t0028 | 0/0 | 8842 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8837): Show |
chr2 | 157521767 | 157633864 |
| a0001c0002t0031 | 0/0 | 8853 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8848): Show |
chr2 | 157521767 | 157633864 |
| a0001c0002t0038 | 0/0 | 8853 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8848): Show |
chr2 | 157521767 | 157633864 |
| a0001c0007t0012 | 0/0 | 8853 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8848): Show |
chr2 | 157521767 | 157633864 |
| a0001c0007t0025 | 0/0 | 8853 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8848): Show |
chr2 | 157521767 | 157633864 |
| a0001c0009t0011 | 0/0 | 8853 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8848): Show |
chr2 | 157521767 | 157633864 |
| a0001c0010t0004 | 0/0 | 8854 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8849): Show |
chr2 | 157521767 | 157633864 |
| a0001c0012t0003 | 0/0 | 8853 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8848): Show |
chr2 | 157521767 | 157633864 |
| a0002c0003t0002 | 0/0 | 8853 | 18 | 8 | 10 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8848): Show |
chr2 | 157521767 | 157633864 |
| a0002c0003t0005 | 0/0 | 8854 | 5 | 5 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8849): Show |
chr2 | 157521767 | 157633864 |
| a0002c0003t0006 | 0/0 | 8854 | 7 | 7 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8849): Show |
chr2 | 157521767 | 157633864 |
| a0002c0003t0007 | 0/0 | 8853 | 4 | 4 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8848): Show |
chr2 | 157521767 | 157633864 |
| a0002c0003t0009 | 0/0 | 8854 | 5 | 3 | 2 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8849): Show |
chr2 | 157521767 | 157633864 |
| a0002c0003t0010 | 0/0 | 8853 | 2 | 2 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8848): Show |
chr2 | 157521767 | 157633864 |
| a0002c0003t0013 | 0/0 | 8854 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8849): Show |
chr2 | 157521767 | 157633864 |
| a0002c0003t0014 | 0/0 | 8853 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8848): Show |
chr2 | 157521767 | 157633864 |
| a0002c0003t0017 | 0/0 | 8853 | 2 | 2 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8848): Show |
chr2 | 157521767 | 157633864 |
| a0002c0003t0020 | 0/0 | 8854 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8849): Show |
chr2 | 157521767 | 157633864 |
| a0002c0003t0021 | 0/0 | 8854 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8849): Show |
chr2 | 157521767 | 157633864 |
| a0002c0003t0026 | 0/0 | 8853 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8848): Show |
chr2 | 157521767 | 157633864 |
| a0002c0004t0002 | 0/0 | 8853 | 3 | 2 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8848): Show |
chr2 | 157521767 | 157633864 |
| a0002c0004t0006 | 0/0 | 8854 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8849): Show |
chr2 | 157521767 | 157633864 |
| a0002c0004t0007 | 0/0 | 8853 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8848): Show |
chr2 | 157521767 | 157633864 |
| a0002c0004t0010 | 0/0 | 8853 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8848): Show |
chr2 | 157521767 | 157633864 |
| a0002c0004t0013 | 0/0 | 8854 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8849): Show |
chr2 | 157521767 | 157633864 |
| a0002c0005t0007 | 0/0 | 8853 | 2 | 2 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8848): Show |
chr2 | 157521767 | 157633864 |
| a0002c0005t0009 | 0/0 | 8854 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8849): Show |
chr2 | 157521767 | 157633864 |
| a0002c0008t0002 | 0/0 | 8853 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8848): Show |
chr2 | 157521767 | 157633864 |
| a0002c0008t0027 | 0/0 | 8853 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8848): Show |
chr2 | 157521767 | 157633864 |
| a0002c0011t0002 | 0/0 | 8853 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8848): Show |
chr2 | 157521767 | 157633864 |
| a0002c0013t0010 | 0/0 | 8853 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8848): Show |
chr2 | 157521767 | 157633864 |
| a0003c0006t0005 | 0/0 | 8854 | 2 | 0 | 0 | 0 | 2 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | AGTGG others(8849): Show |
chr2 | 157521767 | 157633864 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0002 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0001g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0001g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0001g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0001g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0001g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0001g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0001g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0001g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0001g0145 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0001g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0001g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0001g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0001g0151 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0001g0152 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0001g0153 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0001g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0001g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0001g0157 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0001g0160 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0001g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0001g0175 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0001g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0001g0178 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0001g0179 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0001g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0001g0188 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0001g0189 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0001g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0001g0196 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0001g0197 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0001g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0001g0200 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0001g0201 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0001g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0001g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0001g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0001g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0001g0210 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0001g0211 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0003g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0003g0064 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0003g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0003g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0003g0164 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0003g0172 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0003g0177 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0003g0180 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0003g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0003g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0003g0190 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0003g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0003g0212 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0004g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0004g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0004g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0004g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0005g0150 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0005g0158 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0005g0165 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0005g0213 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0008g0162 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0011g0166 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0011g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0012g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0012g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0022g0169 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0029g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0030g0086 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0032g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0033g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0034g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0035g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0036g0198 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0001t0037g0186 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0001g0027 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0001g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0001g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0001g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0001g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0001g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0001g0045 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0001g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0001g0056 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0001g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0001g0065 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0001g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0001g0070 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0001g0074 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0001g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0001g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0001g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0001g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0001g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0001g0110 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0001g0112 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0001g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0001g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0001g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0001g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0001g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0001g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0001g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0001g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0001g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0001g0137 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0001g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0001g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0001g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0003g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0003g0059 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0003g0062 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0003g0072 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0003g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0003g0111 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0003g0115 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0003g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0003g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0004g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0004g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0004g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0004g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0004g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0004g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0004g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0004g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0004g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0005g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0005g0092 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0008g0001 | 0/0 | 2 | 0 | 0 | 0 | 2 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0008g0054 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0008g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0008g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0008g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0014g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0015g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0015g0141 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0016g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0016g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0018g0061 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0019g0088 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0023g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0024g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0028g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0031g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0002t0038g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0007t0012g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0007t0025g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0009t0011g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0010t0004g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0001c0012t0003g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0002g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0002g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0002g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0002g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0002g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0002g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0002g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0002g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0002g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0002g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0002g0044 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0002g0046 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0002g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0002g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0002g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0002g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0002g0124 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0002g0131 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0005g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0005g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0005g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0005g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0005g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0006g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0006g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0006g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0006g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0006g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0006g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0006g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0007g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0007g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0007g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0007g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0009g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0009g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0009g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0009g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0009g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0010g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0010g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0013g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0014g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0017g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0017g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0020g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0021g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0003t0026g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0004t0002g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0004t0002g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0004t0002g0149 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0004t0006g0161 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0004t0007g0184 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0004t0010g0191 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0004t0013g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0005t0007g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0005t0007g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0005t0009g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0008t0002g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0008t0027g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0011t0002g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0002c0013t0010g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0003c0006t0005g0168 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| a0003c0006t0005g0187 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0002 | t0003 | g0062 | EUR | GBR | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG00099 | hp2 | a0001 | c0002 | t0015 | g0141 | EUR | GBR | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG00280 | hp1 | a0001 | c0001 | t0001 | g0151 | EUR | FIN | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG00280 | hp2 | a0001 | c0002 | t0001 | g0056 | EUR | FIN | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG00323 | hp1 | a0001 | c0001 | t0001 | g0153 | EUR | FIN | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG00323 | hp2 | a0001 | c0002 | t0008 | g0054 | EUR | FIN | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG00544 | hp1 | a0001 | c0002 | t0004 | g0125 | EAS | CHS | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG00544 | hp2 | a0001 | c0001 | t0001 | g0156 | EAS | CHS | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG00558 | hp1 | a0001 | c0001 | t0001 | g0181 | EAS | CHS | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG00558 | hp2 | a0001 | c0002 | t0004 | g0135 | EAS | CHS | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG00609 | hp1 | a0001 | c0002 | t0001 | g0117 | EAS | CHS | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG00609 | hp2 | a0001 | c0001 | t0032 | g0170 | EAS | CHS | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG00621 | hp1 | a0001 | c0001 | t0001 | g0206 | EAS | CHS | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG00621 | hp2 | a0001 | c0002 | t0001 | g0116 | EAS | CHS | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG00639 | hp1 | a0001 | c0002 | t0001 | g0110 | AMR | PUR | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG00639 | hp2 | a0001 | c0001 | t0003 | g0154 | AMR | PUR | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG00642 | hp1 | a0001 | c0001 | t0005 | g0150 | AMR | PUR | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG00642 | hp2 | a0001 | c0002 | t0008 | g0140 | AMR | PUR | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG00741 | hp1 | a0002 | c0003 | t0002 | g0060 | AMR | PUR | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG00741 | hp2 | a0001 | c0001 | t0001 | g0188 | AMR | PUR | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG01074 | hp1 | a0001 | c0001 | t0001 | g0178 | AMR | PUR | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG01074 | hp2 | a0001 | c0002 | t0001 | g0055 | AMR | PUR | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG01106 | hp1 | a0001 | c0002 | t0038 | g0071 | AMR | PUR | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG01106 | hp2 | a0001 | c0001 | t0001 | g0145 | AMR | PUR | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG01168 | hp1 | a0002 | c0003 | t0009 | g0067 | AMR | PUR | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG01168 | hp2 | a0001 | c0002 | t0001 | g0045 | AMR | PUR | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG01169 | hp1 | a0001 | c0001 | t0001 | g0003 | AMR | PUR | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG01169 | hp2 | a0002 | c0003 | t0009 | g0068 | AMR | PUR | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG01192 | hp1 | a0001 | c0002 | t0001 | g0069 | AMR | PUR | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG01192 | hp2 | a0002 | c0003 | t0002 | g0124 | AMR | PUR | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG01243 | hp1 | a0001 | c0002 | t0001 | g0063 | AMR | PUR | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG01243 | hp2 | a0001 | c0001 | t0008 | g0162 | AMR | PUR | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG01255 | hp1 | a0001 | c0001 | t0001 | g0148 | AMR | CLM | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG01255 | hp2 | a0002 | c0003 | t0002 | g0131 | AMR | CLM | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG01256 | hp1 | a0001 | c0001 | t0001 | g0152 | AMR | CLM | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG01256 | hp2 | a0002 | c0003 | t0002 | g0044 | AMR | CLM | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG01261 | hp1 | a0002 | c0003 | t0002 | g0006 | AMR | CLM | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG01261 | hp2 | a0001 | c0001 | t0003 | g0172 | AMR | CLM | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG01358 | hp1 | a0001 | c0001 | t0003 | g0177 | AMR | CLM | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG01358 | hp2 | a0001 | c0002 | t0015 | g0053 | AMR | CLM | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG01361 | hp1 | a0002 | c0004 | t0002 | g0149 | AMR | CLM | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG01361 | hp2 | a0002 | c0003 | t0002 | g0046 | AMR | CLM | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG01433 | hp1 | a0002 | c0003 | t0002 | g0047 | AMR | CLM | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG01433 | hp2 | a0001 | c0001 | t0022 | g0169 | AMR | CLM | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG01515 | hp1 | a0001 | c0002 | t0001 | g0070 | EUR | IBS | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG01515 | hp2 | a0003 | c0006 | t0005 | g0187 | EUR | IBS | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG01516 | hp1 | a0001 | c0002 | t0008 | g0001 | EUR | IBS | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG01516 | hp2 | a0001 | c0001 | t0001 | g0175 | EUR | IBS | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG01517 | hp1 | a0001 | c0002 | t0008 | g0001 | EUR | IBS | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG01517 | hp2 | a0003 | c0006 | t0005 | g0168 | EUR | IBS | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG01884 | hp1 | a0001 | c0001 | t0001 | g0210 | AFR | ACB | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG01884 | hp2 | a0002 | c0003 | t0007 | g0076 | AFR | ACB | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG01891 | hp1 | a0002 | c0003 | t0002 | g0023 | AFR | ACB | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG01891 | hp2 | a0002 | c0004 | t0006 | g0161 | AFR | ACB | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG01943 | hp1 | a0001 | c0001 | t0034 | g0144 | AMR | PEL | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG01943 | hp2 | a0002 | c0003 | t0002 | g0039 | AMR | PEL | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG01975 | hp1 | a0002 | c0003 | t0002 | g0040 | AMR | PEL | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG01975 | hp2 | a0001 | c0001 | t0001 | g0146 | AMR | PEL | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG01978 | hp1 | a0001 | c0002 | t0008 | g0066 | AMR | PEL | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG01978 | hp2 | a0001 | c0001 | t0001 | g0160 | AMR | PEL | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02004 | hp1 | a0001 | c0001 | t0001 | g0143 | AMR | PEL | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02004 | hp2 | a0001 | c0002 | t0003 | g0111 | AMR | PEL | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02055 | hp1 | a0002 | c0003 | t0006 | g0102 | AFR | ACB | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02055 | hp2 | a0001 | c0002 | t0001 | g0042 | AFR | ACB | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02071 | hp1 | a0001 | c0001 | t0001 | g0202 | EAS | KHV | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02071 | hp2 | a0001 | c0002 | t0004 | g0113 | EAS | KHV | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02080 | hp1 | a0001 | c0002 | t0001 | g0132 | EAS | KHV | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02080 | hp2 | a0001 | c0001 | t0001 | g0194 | EAS | KHV | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02083 | hp1 | a0001 | c0002 | t0003 | g0123 | EAS | KHV | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02083 | hp2 | a0001 | c0001 | t0001 | g0174 | EAS | KHV | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02145 | hp1 | a0002 | c0003 | t0006 | g0109 | AFR | ACB | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02145 | hp2 | a0001 | c0012 | t0003 | g0051 | AFR | ACB | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02257 | hp1 | a0001 | c0002 | t0001 | g0043 | AFR | ACB | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02257 | hp2 | a0001 | c0002 | t0031 | g0083 | AFR | ACB | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02273 | hp1 | a0002 | c0003 | t0002 | g0120 | AMR | PEL | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02273 | hp2 | a0001 | c0001 | t0001 | g0179 | AMR | PEL | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02280 | hp1 | a0001 | c0001 | t0012 | g0193 | AFR | ACB | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02280 | hp2 | a0001 | c0002 | t0028 | g0048 | AFR | ACB | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02572 | hp1 | a0002 | c0003 | t0006 | g0077 | AFR | GWD | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02572 | hp2 | a0002 | c0005 | t0009 | g0009 | AFR | GWD | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0201 | SAS | PJL | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02602 | hp2 | a0001 | c0002 | t0019 | g0088 | SAS | PJL | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02615 | hp1 | a0002 | c0003 | t0017 | g0214 | AFR | GWD | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02615 | hp2 | a0001 | c0001 | t0037 | g0186 | AFR | GWD | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02622 | hp1 | a0001 | c0002 | t0001 | g0041 | AFR | GWD | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02622 | hp2 | a0001 | c0002 | t0016 | g0038 | AFR | GWD | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02630 | hp1 | a0002 | c0003 | t0005 | g0008 | AFR | GWD | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02630 | hp2 | a0002 | c0003 | t0002 | g0029 | AFR | GWD | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02647 | hp1 | a0001 | c0002 | t0014 | g0049 | AFR | GWD | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02647 | hp2 | a0002 | c0003 | t0002 | g0010 | AFR | GWD | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02683 | hp1 | a0001 | c0001 | t0003 | g0180 | SAS | PJL | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02683 | hp2 | a0001 | c0002 | t0001 | g0027 | SAS | PJL | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02717 | hp1 | a0002 | c0003 | t0017 | g0215 | AFR | GWD | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02717 | hp2 | a0002 | c0003 | t0007 | g0012 | AFR | GWD | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02723 | hp1 | a0002 | c0003 | t0014 | g0082 | AFR | GWD | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02723 | hp2 | a0002 | c0004 | t0013 | g0018 | AFR | GWD | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02738 | hp1 | a0001 | c0002 | t0001 | g0065 | SAS | PJL | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02738 | hp2 | a0001 | c0001 | t0030 | g0086 | SAS | PJL | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02809 | hp1 | a0001 | c0002 | t0016 | g0037 | AFR | GWD | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02809 | hp2 | a0002 | c0011 | t0002 | g0011 | AFR | GWD | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02818 | hp1 | a0001 | c0002 | t0008 | g0073 | AFR | GWD | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02818 | hp2 | a0001 | c0002 | t0001 | g0032 | AFR | GWD | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02886 | hp1 | a0002 | c0004 | t0002 | g0093 | AFR | GWD | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02886 | hp2 | a0002 | c0003 | t0013 | g0050 | AFR | GWD | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02895 | hp1 | a0002 | c0003 | t0002 | g0034 | AFR | GWD | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02895 | hp2 | a0001 | c0007 | t0012 | g0085 | AFR | GWD | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02897 | hp1 | a0002 | c0003 | t0002 | g0035 | AFR | GWD | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02897 | hp2 | a0001 | c0001 | t0001 | g0013 | AFR | GWD | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02922 | hp1 | a0001 | c0001 | t0001 | g0015 | AFR | ESN | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02922 | hp2 | a0002 | c0003 | t0009 | g0036 | AFR | ESN | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02965 | hp1 | a0002 | c0004 | t0002 | g0094 | AFR | ESN | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02965 | hp2 | a0002 | c0003 | t0002 | g0057 | AFR | ESN | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02970 | hp1 | a0001 | c0001 | t0003 | g0190 | AFR | ESN | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02970 | hp2 | a0001 | c0002 | t0005 | g0033 | AFR | ESN | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02976 | hp1 | a0002 | c0005 | t0007 | g0005 | AFR | ESN | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02976 | hp2 | a0002 | c0008 | t0027 | g0105 | AFR | ESN | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG03041 | hp1 | a0002 | c0008 | t0002 | g0106 | AFR | GWD | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG03041 | hp2 | a0002 | c0003 | t0005 | g0095 | AFR | GWD | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG03098 | hp1 | a0001 | c0001 | t0001 | g0020 | AFR | MSL | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG03098 | hp2 | a0001 | c0002 | t0001 | g0030 | AFR | MSL | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG03130 | hp1 | a0002 | c0003 | t0007 | g0100 | AFR | ESN | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG03130 | hp2 | a0002 | c0013 | t0010 | g0052 | AFR | ESN | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG03139 | hp1 | a0002 | c0003 | t0005 | g0096 | AFR | ESN | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG03139 | hp2 | a0001 | c0001 | t0001 | g0157 | AFR | ESN | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG03195 | hp1 | a0002 | c0003 | t0007 | g0028 | AFR | ESN | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG03195 | hp2 | a0002 | c0003 | t0010 | g0087 | AFR | ESN | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG03209 | hp1 | a0002 | c0005 | t0007 | g0004 | AFR | MSL | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG03209 | hp2 | a0001 | c0001 | t0001 | g0019 | AFR | MSL | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG03225 | hp1 | a0001 | c0002 | t0001 | g0081 | AFR | MSL | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG03225 | hp2 | a0001 | c0001 | t0003 | g0058 | AFR | MSL | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG03239 | hp1 | a0001 | c0001 | t0003 | g0164 | SAS | PJL | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG03239 | hp2 | a0001 | c0001 | t0005 | g0213 | SAS | PJL | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG03453 | hp1 | a0002 | c0003 | t0002 | g0024 | AFR | MSL | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG03453 | hp2 | a0002 | c0003 | t0005 | g0098 | AFR | MSL | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG03486 | hp1 | a0001 | c0001 | t0005 | g0158 | AFR | MSL | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG03486 | hp2 | a0002 | c0003 | t0021 | g0099 | AFR | MSL | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG03516 | hp1 | a0001 | c0001 | t0001 | g0016 | AFR | ESN | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG03516 | hp2 | a0002 | c0003 | t0010 | g0031 | AFR | ESN | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG03540 | hp1 | a0001 | c0007 | t0025 | g0080 | AFR | GWD | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG03540 | hp2 | a0001 | c0002 | t0001 | g0091 | AFR | GWD | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG03579 | hp1 | a0001 | c0002 | t0023 | g0007 | AFR | MSL | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG03579 | hp2 | a0002 | c0004 | t0010 | g0191 | AFR | MSL | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG03654 | hp1 | a0001 | c0002 | t0001 | g0074 | SAS | PJL | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG03654 | hp2 | a0001 | c0001 | t0003 | g0212 | SAS | PJL | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG03710 | hp1 | a0001 | c0001 | t0001 | g0197 | SAS | PJL | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG03710 | hp2 | a0001 | c0001 | t0001 | g0002 | SAS | PJL | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG03834 | hp1 | a0001 | c0002 | t0003 | g0115 | SAS | BEB | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG03834 | hp2 | a0001 | c0002 | t0001 | g0137 | SAS | BEB | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG03927 | hp1 | a0001 | c0001 | t0001 | g0200 | SAS | BEB | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG03927 | hp2 | a0001 | c0002 | t0018 | g0061 | SAS | BEB | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG04115 | hp1 | a0001 | c0001 | t0005 | g0165 | SAS | STU | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG04115 | hp2 | a0001 | c0002 | t0005 | g0092 | SAS | STU | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG04228 | hp1 | a0001 | c0001 | t0001 | g0211 | SAS | STU | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG04228 | hp2 | a0001 | c0002 | t0003 | g0059 | SAS | STU | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA18522 | hp1 | a0002 | c0003 | t0006 | g0078 | AFR | YRI | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA18522 | hp2 | a0001 | c0002 | t0001 | g0101 | AFR | YRI | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA18612 | hp1 | a0001 | c0002 | t0004 | g0130 | EAS | CHB | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA18612 | hp2 | a0001 | c0001 | t0033 | g0195 | EAS | CHB | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA18747 | hp1 | a0001 | c0001 | t0003 | g0163 | EAS | CHB | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA18747 | hp2 | a0001 | c0002 | t0004 | g0138 | EAS | CHB | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA18906 | hp1 | a0002 | c0003 | t0006 | g0089 | AFR | YRI | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA18906 | hp2 | a0001 | c0001 | t0001 | g0017 | AFR | YRI | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA18949 | hp1 | a0001 | c0010 | t0004 | g0126 | EAS | JPT | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA18949 | hp2 | a0001 | c0001 | t0035 | g0142 | EAS | JPT | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA18970 | hp1 | a0001 | c0001 | t0001 | g0199 | EAS | JPT | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA18970 | hp2 | a0001 | c0002 | t0004 | g0122 | EAS | JPT | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA18971 | hp1 | a0001 | c0001 | t0001 | g0207 | EAS | JPT | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA18971 | hp2 | a0001 | c0001 | t0004 | g0173 | EAS | JPT | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA18974 | hp1 | a0001 | c0001 | t0003 | g0183 | EAS | JPT | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA18974 | hp2 | a0001 | c0002 | t0001 | g0128 | EAS | JPT | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA18988 | hp1 | a0001 | c0002 | t0003 | g0134 | EAS | JPT | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA18988 | hp2 | a0001 | c0001 | t0004 | g0185 | EAS | JPT | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA18990 | hp1 | a0001 | c0002 | t0004 | g0136 | EAS | JPT | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA18990 | hp2 | a0001 | c0001 | t0003 | g0209 | EAS | JPT | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA18998 | hp1 | a0001 | c0002 | t0003 | g0021 | EAS | JPT | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA18998 | hp2 | a0001 | c0002 | t0001 | g0119 | EAS | JPT | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA19002 | hp1 | a0001 | c0002 | t0001 | g0208 | EAS | JPT | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA19002 | hp2 | a0001 | c0002 | t0001 | g0205 | EAS | JPT | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA19009 | hp1 | a0001 | c0002 | t0001 | g0204 | EAS | JPT | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA19009 | hp2 | a0001 | c0002 | t0001 | g0129 | EAS | JPT | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA19043 | hp1 | a0002 | c0004 | t0007 | g0184 | AFR | LWK | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA19043 | hp2 | a0002 | c0003 | t0006 | g0103 | AFR | LWK | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA19062 | hp1 | a0001 | c0001 | t0001 | g0147 | EAS | JPT | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA19062 | hp2 | a0001 | c0002 | t0003 | g0090 | EAS | JPT | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA19064 | hp1 | a0001 | c0002 | t0001 | g0118 | EAS | JPT | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA19064 | hp2 | a0001 | c0001 | t0004 | g0171 | EAS | JPT | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA19072 | hp1 | a0001 | c0002 | t0001 | g0121 | EAS | JPT | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA19072 | hp2 | a0001 | c0001 | t0001 | g0176 | EAS | JPT | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA19076 | hp1 | a0001 | c0002 | t0004 | g0133 | EAS | JPT | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA19076 | hp2 | a0001 | c0001 | t0001 | g0203 | EAS | JPT | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA19077 | hp1 | a0001 | c0002 | t0004 | g0114 | EAS | JPT | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA19077 | hp2 | a0001 | c0001 | t0004 | g0139 | EAS | JPT | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA19084 | hp1 | a0001 | c0001 | t0001 | g0155 | EAS | JPT | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA19084 | hp2 | a0001 | c0002 | t0001 | g0127 | EAS | JPT | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA20129 | hp1 | a0001 | c0001 | t0003 | g0182 | AFR | ASW | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA20129 | hp2 | a0002 | c0003 | t0020 | g0079 | AFR | ASW | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0196 | EUR | TSI | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA20752 | hp2 | a0001 | c0002 | t0001 | g0112 | EUR | TSI | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA20805 | hp1 | a0001 | c0002 | t0003 | g0072 | EUR | TSI | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA20805 | hp2 | a0001 | c0001 | t0001 | g0189 | EUR | TSI | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02109 | hp1 | a0001 | c0001 | t0011 | g0166 | AFR | ACB | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02109 | hp2 | a0002 | c0003 | t0009 | g0025 | AFR | ACB | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02486 | hp1 | a0001 | c0002 | t0001 | g0084 | AFR | ACB | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02486 | hp2 | a0001 | c0002 | t0024 | g0108 | AFR | ACB | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02559 | hp1 | a0002 | c0003 | t0026 | g0107 | AFR | ACB | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG02559 | hp2 | a0001 | c0002 | t0001 | g0075 | AFR | ACB | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG03471 | hp1 | a0001 | c0001 | t0012 | g0192 | AFR | MSL | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG03471 | hp2 | a0001 | c0001 | t0011 | g0167 | AFR | MSL | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG06807 | hp1 | a0002 | c0003 | t0005 | g0097 | AFR | USA | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| HG06807 | hp2 | a0001 | c0001 | t0029 | g0014 | AFR | USA | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA20300 | hp1 | a0002 | c0003 | t0006 | g0104 | AFR | USA | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA20300 | hp2 | a0002 | c0003 | t0002 | g0022 | AFR | USA | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA21309 | hp1 | a0002 | c0003 | t0009 | g0026 | AFR | LWK | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| NA21309 | hp2 | a0001 | c0009 | t0011 | g0159 | AFR | LWK | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0036 | g0198 | REF | REF | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0003 | g0064 | REF | REF | ACVR1C_chr2_157521767_157633864 | ACVR1C | chr2 | 157521767 | 157633864 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:157533956 | T | C | 1 | a0002 | 62 | HG00741.hp1 HG01168.hp1 HG01169.hp2 others(59): Show |
missense_variant | MODERATE | c.1444A>G | p.Ile482Val | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 9/9 | 1664/8853 | 1444/1482 | 482/493 | chr2 | 157533956 | |||
| chr2:157556189 | T | G | 1 | a0003 | 2 | HG01515.hp2 HG01517.hp2 |
missense_variant | MODERATE | c.448A>C | p.Asn150His | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/9 | 668/8853 | 448/1482 | 150/493 | chr2 | 157556189 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:157544593 | T | C | 3 | a0001c0007 a0002c0008 a0002c0011 |
5 | HG02809.hp2 HG02895.hp2 HG02976.hp2 others(2): Show |
synonymous_variant | LOW | c.795A>G | p.Gln265Gln | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 5/9 | 1015/8853 | 795/1482 | 265/493 | chr2 | 157544593 | |||
| chr2:157550265 | G | A | 1 | a0001c0009 | 1 | NA21309.hp2 | synonymous_variant | LOW | c.672C>T | p.Phe224Phe | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/9 | 892/8853 | 672/1482 | 224/493 | chr2 | 157550265 | |||
| chr2:157550337 | T | G | 3 | a0001c0012 a0002c0008 a0002c0013 |
4 | HG02145.hp2 HG02976.hp2 HG03041.hp1 others(1): Show |
synonymous_variant | LOW | c.600A>C | p.Ile200Ile | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/9 | 820/8853 | 600/1482 | 200/493 | chr2 | 157550337 | |||
| chr2:157556187 | A | G | 1 | a0002c0005 | 3 | HG02572.hp2 HG02976.hp1 HG03209.hp1 |
synonymous_variant | LOW | c.450T>C | p.Asn150Asn | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/9 | 670/8853 | 450/1482 | 150/493 | chr2 | 157556187 | |||
| chr2:157587263 | A | G | 1 | a0001c0010 | 1 | NA18949.hp1 | synonymous_variant | LOW | c.228T>C | p.His76His | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/9 | 448/8853 | 228/1482 | 76/493 | chr2 | 157587263 | |||
| chr2:157587377 | G | A | 8 | a0001c0002 a0001c0007 a0001c0010 others(5): Show |
128 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(125): Show |
synonymous_variant | LOW | c.114C>T | p.Phe38Phe | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/9 | 334/8853 | 114/1482 | 38/493 | chr2 | 157587377 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:157527136 | TGAATATC others(4): Show |
T | 1 | a0001c0002t0028 | 1 | HG02280.hp2 | 3_prime_UTR_variant | MODIFIER | c.*6771_*6781delGAAT others(7): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 9/9 | 6771 | chr2 | 157527136 | ||||||
| chr2:157527373 | C | T | 1 | a0001c0002t0038 | 1 | HG01106.hp1 | 3_prime_UTR_variant | MODIFIER | c.*6545G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 9/9 | 6545 | chr2 | 157527373 | ||||||
| chr2:157527545 | A | G | 1 | a0002c0008t0027 | 1 | HG02976.hp2 | 3_prime_UTR_variant | MODIFIER | c.*6373T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 9/9 | 6373 | chr2 | 157527545 | ||||||
| chr2:157527804 | G | A | 1 | a0002c0003t0017 | 2 | HG02615.hp1 HG02717.hp1 |
3_prime_UTR_variant | MODIFIER | c.*6114C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 9/9 | 6114 | chr2 | 157527804 | ||||||
| chr2:157528047 | G | A | 2 | a0001c0001t0011 a0001c0009t0011 |
3 | HG02109.hp1 HG03471.hp2 NA21309.hp2 |
3_prime_UTR_variant | MODIFIER | c.*5871C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 9/9 | 5871 | chr2 | 157528047 | ||||||
| chr2:157528071 | T | G | 2 | a0001c0001t0029 a0001c0002t0028 |
2 | HG02280.hp2 HG06807.hp2 |
3_prime_UTR_variant | MODIFIER | c.*5847A>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 9/9 | 5847 | chr2 | 157528071 | ||||||
| chr2:157528286 | G | A | 40 | a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(37): Show |
163 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(160): Show |
3_prime_UTR_variant | MODIFIER | c.*5632C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 9/9 | 5632 | chr2 | 157528286 | ||||||
| chr2:157528630 | G | C | 2 | a0001c0001t0011 a0001c0009t0011 |
3 | HG02109.hp1 HG03471.hp2 NA21309.hp2 |
3_prime_UTR_variant | MODIFIER | c.*5288C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 9/9 | 5288 | chr2 | 157528630 | ||||||
| chr2:157528715 | G | A | 1 | a0001c0002t0023 | 1 | HG03579.hp1 | 3_prime_UTR_variant | MODIFIER | c.*5203C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 9/9 | 5203 | chr2 | 157528715 | ||||||
| chr2:157528908 | G | A | 1 | a0001c0001t0033 | 1 | NA18612.hp2 | 3_prime_UTR_variant | MODIFIER | c.*5010C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 9/9 | 5010 | chr2 | 157528908 | ||||||
| chr2:157529147 | C | G | 19 | a0001c0001t0011 a0001c0002t0016 a0001c0009t0011 others(16): Show |
46 | HG00741.hp1 HG01168.hp1 HG01169.hp2 others(43): Show |
3_prime_UTR_variant | MODIFIER | c.*4771G>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 9/9 | 4771 | chr2 | 157529147 | ||||||
| chr2:157529199 | A | G | 1 | a0002c0003t0020 | 1 | NA20129.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4719T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 9/9 | 4719 | chr2 | 157529199 | ||||||
| chr2:157529477 | C | A | 1 | a0002c0003t0021 | 1 | HG03486.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4441G>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 9/9 | 4441 | chr2 | 157529477 | ||||||
| chr2:157529609 | C | A | 50 | a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(47): Show |
181 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(178): Show |
3_prime_UTR_variant | MODIFIER | c.*4309G>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 9/9 | 4309 | chr2 | 157529609 | ||||||
| chr2:157530104 | G | A | 1 | a0001c0002t0024 | 1 | HG02486.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3814C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 9/9 | 3814 | chr2 | 157530104 | ||||||
| chr2:157530380 | C | T | 2 | a0001c0001t0011 a0001c0009t0011 |
3 | HG02109.hp1 HG03471.hp2 NA21309.hp2 |
3_prime_UTR_variant | MODIFIER | c.*3538G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 9/9 | 3538 | chr2 | 157530380 | ||||||
| chr2:157530426 | C | T | 50 | a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(47): Show |
181 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(178): Show |
3_prime_UTR_variant | MODIFIER | c.*3492G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 9/9 | 3492 | chr2 | 157530426 | ||||||
| chr2:157530444 | G | A | 1 | a0001c0001t0030 | 1 | HG02738.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3474C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 9/9 | 3474 | chr2 | 157530444 | ||||||
| chr2:157531069 | A | AT | 10 | a0001c0001t0004 a0001c0001t0022 a0001c0001t0037 others(7): Show |
28 | HG00544.hp1 HG00558.hp2 HG01433.hp2 others(25): Show |
3_prime_UTR_variant | MODIFIER | c.*2848dupA | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 9/9 | 2848 | chr2 | 157531069 | ||||||
| chr2:157531229 | A | G | 1 | a0001c0001t0032 | 1 | HG00609.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2689T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 9/9 | 2689 | chr2 | 157531229 | ||||||
| chr2:157531432 | T | C | 1 | a0001c0001t0034 | 1 | HG01943.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2486A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 9/9 | 2486 | chr2 | 157531432 | ||||||
| chr2:157531673 | A | T | 1 | a0001c0002t0031 | 1 | HG02257.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2245T>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 9/9 | 2245 | chr2 | 157531673 | ||||||
| chr2:157531765 | G | A | 3 | a0002c0003t0010 a0002c0004t0010 a0002c0013t0010 |
4 | HG03130.hp2 HG03195.hp2 HG03516.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*2153C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 9/9 | 2153 | chr2 | 157531765 | ||||||
| chr2:157531993 | A | C | 1 | a0002c0003t0026 | 1 | HG02559.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1925T>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 9/9 | 1925 | chr2 | 157531993 | ||||||
| chr2:157532056 | G | A | 1 | a0001c0001t0035 | 1 | NA18949.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1862C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 9/9 | 1862 | chr2 | 157532056 | ||||||
| chr2:157532113 | A | G | 2 | a0001c0001t0037 a0001c0002t0016 |
3 | HG02615.hp2 HG02622.hp2 HG02809.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1805T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 9/9 | 1805 | chr2 | 157532113 | ||||||
| chr2:157532132 | G | A | 1 | a0001c0002t0015 | 2 | HG00099.hp2 HG01358.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1786C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 9/9 | 1786 | chr2 | 157532132 | ||||||
| chr2:157532267 | T | C | 22 | a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(19): Show |
120 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(117): Show |
3_prime_UTR_variant | MODIFIER | c.*1651A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 9/9 | 1651 | chr2 | 157532267 | ||||||
| chr2:157532296 | A | G | 1 | a0001c0007t0025 | 1 | HG03540.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1622T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 9/9 | 1622 | chr2 | 157532296 | ||||||
| chr2:157532373 | G | GT | 11 | a0001c0001t0005 a0001c0001t0022 a0001c0002t0005 others(8): Show |
24 | HG00642.hp1 HG01168.hp1 HG01169.hp2 others(21): Show |
3_prime_UTR_variant | MODIFIER | c.*1544dupA | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 9/9 | 1544 | chr2 | 157532373 | ||||||
| chr2:157532538 | T | C | 2 | a0001c0001t0012 a0001c0007t0012 |
3 | HG02280.hp1 HG02895.hp2 HG03471.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1380A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 9/9 | 1380 | chr2 | 157532538 | ||||||
| chr2:157532859 | T | C | 2 | a0001c0001t0037 a0001c0002t0016 |
3 | HG02615.hp2 HG02622.hp2 HG02809.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1059A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 9/9 | 1059 | chr2 | 157532859 | ||||||
| chr2:157533471 | G | A | 1 | a0001c0002t0038 | 1 | HG01106.hp1 | 3_prime_UTR_variant | MODIFIER | c.*447C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 9/9 | 447 | chr2 | 157533471 | ||||||
| chr2:157533568 | C | T | 1 | a0001c0002t0019 | 1 | HG02602.hp2 | 3_prime_UTR_variant | MODIFIER | c.*350G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 9/9 | 350 | chr2 | 157533568 | ||||||
| chr2:157533867 | A | G | 1 | a0001c0002t0018 | 1 | HG03927.hp2 | 3_prime_UTR_variant | MODIFIER | c.*51T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 9/9 | 51 | chr2 | 157533867 | ||||||
| chr2:157628780 | G | A | 1 | a0002c0003t0017 | 2 | HG02615.hp1 HG02717.hp1 |
5_prime_UTR_variant | MODIFIER | c.-136C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/9 | 136 | chr2 | 157628780 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:157534114 | C | T | 9 | a0002c0003t0006g0077 a0002c0003t0006g0078 a0002c0003t0006g0089 others(6): Show |
9 | HG01891.hp2 HG02055.hp1 HG02145.hp1 others(6): Show |
intron_variant | MODIFIER | c.1357-71G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 8/8 | chr2 | 157534114 | |||||||
| chr2:157534140 | C | CT | 5 | a0001c0002t0001g0091 a0002c0003t0002g0022 a0002c0003t0002g0023 others(2): Show |
5 | HG01891.hp1 HG02630.hp2 HG03453.hp1 others(2): Show |
intron_variant | MODIFIER | c.1357-98dupA | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 8/8 | chr2 | 157534140 | |||||||
| chr2:157534254 | G | A | 3 | a0001c0001t0011g0166 a0001c0001t0011g0167 a0001c0009t0011g0159 |
3 | HG02109.hp1 HG03471.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.1357-211C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 8/8 | chr2 | 157534254 | |||||||
| chr2:157534300 | C | T | 4 | a0001c0001t0004g0139 a0001c0001t0004g0171 a0001c0002t0004g0133 others(1): Show |
4 | NA18747.hp2 NA19064.hp2 NA19076.hp1 others(1): Show |
intron_variant | MODIFIER | c.1357-257G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 8/8 | chr2 | 157534300 | |||||||
| chr2:157534420 | G | A | 1 | a0002c0004t0002g0149 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.1357-377C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 8/8 | chr2 | 157534420 | |||||||
| chr2:157534519 | C | T | 171 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 others(168): Show |
172 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(169): Show |
intron_variant | MODIFIER | c.1357-476G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 8/8 | chr2 | 157534519 | |||||||
| chr2:157534590 | G | A | 8 | a0001c0001t0004g0139 a0001c0001t0004g0171 a0001c0001t0004g0173 others(5): Show |
8 | HG00544.hp1 HG00558.hp2 NA18747.hp2 others(5): Show |
intron_variant | MODIFIER | c.1357-547C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 8/8 | chr2 | 157534590 | |||||||
| chr2:157534785 | C | T | 2 | a0001c0001t0012g0192 a0001c0001t0012g0193 |
2 | HG02280.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.1357-742G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 8/8 | chr2 | 157534785 | |||||||
| chr2:157534870 | T | G | 1 | a0001c0002t0003g0123 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.1357-827A>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 8/8 | chr2 | 157534870 | |||||||
| chr2:157535084 | G | A | 171 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 others(168): Show |
172 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(169): Show |
intron_variant | MODIFIER | c.1357-1041C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 8/8 | chr2 | 157535084 | |||||||
| chr2:157535143 | C | CA | 19 | a0001c0001t0003g0058 a0001c0001t0003g0163 a0001c0001t0003g0164 others(16): Show |
19 | HG00099.hp1 HG02004.hp2 HG02280.hp1 others(16): Show |
intron_variant | MODIFIER | c.1357-1101dupT | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 8/8 | chr2 | 157535143 | |||||||
| chr2:157535143 | C | CAA | 7 | a0001c0001t0003g0154 a0001c0001t0003g0172 a0001c0001t0003g0180 others(4): Show |
7 | HG00639.hp2 HG01261.hp2 HG02145.hp2 others(4): Show |
intron_variant | MODIFIER | c.1357-1102_1357-110 others(6): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 8/8 | chr2 | 157535143 | |||||||
| chr2:157535143 | CA | C | 126 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 others(123): Show |
127 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(124): Show |
intron_variant | MODIFIER | c.1357-1101delT | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 8/8 | chr2 | 157535143 | |||||||
| chr2:157535143 | CAA | C | 44 | a0002c0003t0002g0010 a0002c0003t0002g0022 a0002c0003t0002g0023 others(41): Show |
44 | HG01168.hp1 HG01169.hp2 HG01192.hp2 others(41): Show |
intron_variant | MODIFIER | c.1357-1102_1357-110 others(6): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 8/8 | chr2 | 157535143 | |||||||
| chr2:157535332 | A | G | 1 | a0001c0001t0001g0202 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.1357-1289T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 8/8 | chr2 | 157535332 | |||||||
| chr2:157535394 | T | C | 1 | a0001c0007t0012g0085 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1357-1351A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 8/8 | chr2 | 157535394 | |||||||
| chr2:157535438 | T | C | 1 | a0001c0002t0014g0049 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1357-1395A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 8/8 | chr2 | 157535438 | |||||||
| chr2:157535468 | A | C | 2 | a0001c0002t0008g0001 a0001c0002t0008g0140 |
3 | HG00642.hp2 HG01516.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.1357-1425T>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 8/8 | chr2 | 157535468 | |||||||
| chr2:157535667 | C | T | 2 | a0001c0001t0001g0176 a0001c0002t0001g0121 |
2 | NA19072.hp1 NA19072.hp2 |
intron_variant | MODIFIER | c.1357-1624G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 8/8 | chr2 | 157535667 | |||||||
| chr2:157535938 | C | A | 1 | a0001c0002t0001g0069 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.1357-1895G>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 8/8 | chr2 | 157535938 | |||||||
| chr2:157536508 | C | T | 192 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 others(189): Show |
193 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(190): Show |
intron_variant | MODIFIER | c.1356+2065G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 8/8 | chr2 | 157536508 | |||||||
| chr2:157536574 | T | C | 1 | a0001c0001t0012g0193 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1356+1999A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 8/8 | chr2 | 157536574 | |||||||
| chr2:157536769 | T | A | 6 | a0001c0002t0005g0033 a0002c0003t0005g0008 a0002c0003t0005g0095 others(3): Show |
6 | HG02630.hp1 HG02970.hp2 HG03041.hp2 others(3): Show |
intron_variant | MODIFIER | c.1356+1804A>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 8/8 | chr2 | 157536769 | |||||||
| chr2:157536789 | T | C | 2 | a0003c0006t0005g0168 a0003c0006t0005g0187 |
2 | HG01515.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.1356+1784A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 8/8 | chr2 | 157536789 | |||||||
| chr2:157536834 | A | T | 1 | a0001c0002t0024g0108 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.1356+1739T>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 8/8 | chr2 | 157536834 | |||||||
| chr2:157536847 | A | G | 1 | a0001c0001t0034g0144 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.1356+1726T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 8/8 | chr2 | 157536847 | |||||||
| chr2:157537046 | G | T | 1 | a0001c0012t0003g0051 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.1356+1527C>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 8/8 | chr2 | 157537046 | |||||||
| chr2:157537092 | G | T | 4 | a0001c0001t0001g0151 a0001c0001t0001g0196 a0001c0001t0001g0197 others(1): Show |
4 | HG00280.hp1 HG01168.hp2 HG03710.hp1 others(1): Show |
intron_variant | MODIFIER | c.1356+1481C>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 8/8 | chr2 | 157537092 | |||||||
| chr2:157537523 | G | C | 1 | a0002c0008t0027g0105 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.1356+1050C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 8/8 | chr2 | 157537523 | |||||||
| chr2:157537610 | C | T | 1 | a0001c0007t0012g0085 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1356+963G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 8/8 | chr2 | 157537610 | |||||||
| chr2:157537946 | G | A | 7 | a0002c0003t0007g0012 a0002c0003t0007g0028 a0002c0003t0007g0076 others(4): Show |
7 | HG01884.hp2 HG02717.hp2 HG02976.hp1 others(4): Show |
intron_variant | MODIFIER | c.1356+627C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 8/8 | chr2 | 157537946 | |||||||
| chr2:157538197 | G | C | 4 | a0002c0003t0007g0100 a0002c0003t0013g0050 a0002c0003t0026g0107 others(1): Show |
4 | HG02559.hp1 HG02723.hp2 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.1356+376C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 8/8 | chr2 | 157538197 | |||||||
| chr2:157538230 | G | A | 6 | a0001c0002t0005g0033 a0002c0003t0005g0008 a0002c0003t0005g0095 others(3): Show |
6 | HG02630.hp1 HG02970.hp2 HG03041.hp2 others(3): Show |
intron_variant | MODIFIER | c.1356+343C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 8/8 | chr2 | 157538230 | |||||||
| chr2:157538301 | T | C | 188 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 others(185): Show |
189 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(186): Show |
intron_variant | MODIFIER | c.1356+272A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 8/8 | chr2 | 157538301 | |||||||
| chr2:157538407 | T | C | 3 | a0001c0001t0011g0166 a0001c0001t0011g0167 a0001c0009t0011g0159 |
3 | HG02109.hp1 HG03471.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.1356+166A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 8/8 | chr2 | 157538407 | |||||||
| chr2:157538567 | C | G | 172 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 others(169): Show |
173 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(170): Show |
splice_region_variant&intron_variant | LOW | c.1356+6G>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 8/8 | chr2 | 157538567 | |||||||
| chr2:157538753 | A | G | 9 | a0001c0001t0001g0179 a0001c0001t0001g0201 a0001c0001t0001g0202 others(6): Show |
9 | HG02071.hp1 HG02273.hp2 HG02602.hp1 others(6): Show |
intron_variant | MODIFIER | c.1226-50T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 7/8 | chr2 | 157538753 | |||||||
| chr2:157538971 | CAT | C | 3 | a0001c0001t0011g0166 a0001c0001t0011g0167 a0001c0009t0011g0159 |
3 | HG02109.hp1 HG03471.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.1226-270_1226-269d others(4): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 7/8 | chr2 | 157538971 | |||||||
| chr2:157538991 | A | T | 2 | a0001c0001t0029g0014 a0001c0002t0028g0048 |
2 | HG02280.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.1226-288T>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 7/8 | chr2 | 157538991 | |||||||
| chr2:157538999 | C | T | 2 | a0001c0001t0029g0014 a0001c0002t0028g0048 |
2 | HG02280.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.1226-296G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 7/8 | chr2 | 157538999 | |||||||
| chr2:157539074 | C | T | 1 | a0001c0001t0001g0174 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.1226-371G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 7/8 | chr2 | 157539074 | |||||||
| chr2:157539353 | A | G | 1 | a0001c0001t0003g0164 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1226-650T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 7/8 | chr2 | 157539353 | |||||||
| chr2:157539545 | A | G | 2 | a0001c0001t0030g0086 a0001c0002t0003g0111 |
2 | HG02004.hp2 HG02738.hp2 |
intron_variant | MODIFIER | c.1226-842T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 7/8 | chr2 | 157539545 | |||||||
| chr2:157539647 | G | T | 3 | a0001c0001t0037g0186 a0001c0002t0016g0037 a0001c0002t0016g0038 |
3 | HG02615.hp2 HG02622.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.1226-944C>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 7/8 | chr2 | 157539647 | |||||||
| chr2:157539822 | C | T | 1 | a0002c0003t0009g0036 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1226-1119G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 7/8 | chr2 | 157539822 | |||||||
| chr2:157540168 | CTAAG | C | 2 | a0001c0001t0011g0166 a0001c0001t0011g0167 |
2 | HG02109.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.1225+918_1225+921d others(6): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 7/8 | chr2 | 157540168 | |||||||
| chr2:157540236 | C | A | 1 | a0002c0003t0002g0022 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1225+854G>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 7/8 | chr2 | 157540236 | |||||||
| chr2:157540450 | C | T | 3 | a0001c0001t0012g0192 a0001c0001t0012g0193 a0001c0002t0001g0030 |
3 | HG02280.hp1 HG03098.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1225+640G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 7/8 | chr2 | 157540450 | |||||||
| chr2:157540487 | A | C | 130 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 others(127): Show |
131 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(128): Show |
intron_variant | MODIFIER | c.1225+603T>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 7/8 | chr2 | 157540487 | |||||||
| chr2:157540622 | A | T | 4 | a0002c0003t0009g0025 a0002c0003t0009g0067 a0002c0003t0009g0068 others(1): Show |
4 | HG01168.hp1 HG01169.hp2 HG02109.hp2 others(1): Show |
intron_variant | MODIFIER | c.1225+468T>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 7/8 | chr2 | 157540622 | |||||||
| chr2:157541011 | G | C | 6 | a0001c0001t0012g0192 a0001c0001t0012g0193 a0001c0001t0037g0186 others(3): Show |
6 | HG02280.hp1 HG02615.hp2 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.1225+79C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 7/8 | chr2 | 157541011 | |||||||
| chr2:157541280 | ATAAAT | A | 3 | a0001c0001t0012g0192 a0001c0001t0012g0193 a0001c0002t0001g0030 |
3 | HG02280.hp1 HG03098.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1101-71_1101-67del others(5): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 6/8 | chr2 | 157541280 | |||||||
| chr2:157541382 | C | T | 3 | a0001c0001t0012g0192 a0001c0001t0012g0193 a0001c0002t0001g0030 |
3 | HG02280.hp1 HG03098.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1101-168G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 6/8 | chr2 | 157541382 | |||||||
| chr2:157541420 | A | G | 3 | a0001c0012t0003g0051 a0002c0008t0002g0106 a0002c0008t0027g0105 |
3 | HG02145.hp2 HG02976.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.1101-206T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 6/8 | chr2 | 157541420 | |||||||
| chr2:157541605 | C | A | 1 | a0001c0001t0008g0162 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1101-391G>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 6/8 | chr2 | 157541605 | |||||||
| chr2:157541676 | T | C | 1 | a0001c0002t0014g0049 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1101-462A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 6/8 | chr2 | 157541676 | |||||||
| chr2:157541811 | G | A | 1 | a0002c0003t0002g0060 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.1101-597C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 6/8 | chr2 | 157541811 | |||||||
| chr2:157541932 | T | C | 1 | a0001c0002t0001g0027 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.1101-718A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 6/8 | chr2 | 157541932 | |||||||
| chr2:157542025 | C | T | 3 | a0001c0001t0011g0166 a0001c0001t0011g0167 a0001c0009t0011g0159 |
3 | HG02109.hp1 HG03471.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.1100+681G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 6/8 | chr2 | 157542025 | |||||||
| chr2:157542207 | T | G | 9 | a0002c0003t0002g0039 a0002c0003t0002g0040 a0002c0003t0002g0044 others(6): Show |
9 | HG00741.hp1 HG01192.hp2 HG01255.hp2 others(6): Show |
intron_variant | MODIFIER | c.1100+499A>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 6/8 | chr2 | 157542207 | |||||||
| chr2:157542286 | T | C | 3 | a0001c0012t0003g0051 a0002c0008t0002g0106 a0002c0008t0027g0105 |
3 | HG02145.hp2 HG02976.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.1100+420A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 6/8 | chr2 | 157542286 | |||||||
| chr2:157542526 | G | C | 4 | a0001c0001t0001g0151 a0001c0001t0001g0196 a0001c0001t0001g0197 others(1): Show |
4 | HG00280.hp1 HG01168.hp2 HG03710.hp1 others(1): Show |
intron_variant | MODIFIER | c.1100+180C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 6/8 | chr2 | 157542526 | |||||||
| chr2:157542678 | A | G | 3 | a0001c0012t0003g0051 a0002c0008t0002g0106 a0002c0008t0027g0105 |
3 | HG02145.hp2 HG02976.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.1100+28T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 6/8 | chr2 | 157542678 | |||||||
| chr2:157542998 | T | A | 130 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 others(127): Show |
131 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(128): Show |
intron_variant | MODIFIER | c.944-136A>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 5/8 | chr2 | 157542998 | |||||||
| chr2:157543002 | G | T | 130 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 others(127): Show |
131 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(128): Show |
intron_variant | MODIFIER | c.944-140C>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 5/8 | chr2 | 157543002 | |||||||
| chr2:157543053 | C | T | 2 | a0001c0001t0012g0192 a0001c0001t0012g0193 |
2 | HG02280.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.944-191G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 5/8 | chr2 | 157543053 | |||||||
| chr2:157543065 | G | A | 2 | a0001c0002t0015g0053 a0001c0002t0015g0141 |
2 | HG00099.hp2 HG01358.hp2 |
intron_variant | MODIFIER | c.944-203C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 5/8 | chr2 | 157543065 | |||||||
| chr2:157543124 | T | G | 3 | a0001c0001t0012g0192 a0001c0001t0012g0193 a0001c0002t0001g0030 |
3 | HG02280.hp1 HG03098.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.944-262A>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 5/8 | chr2 | 157543124 | |||||||
| chr2:157543480 | T | G | 3 | a0001c0001t0012g0192 a0001c0001t0012g0193 a0001c0002t0001g0030 |
3 | HG02280.hp1 HG03098.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.944-618A>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 5/8 | chr2 | 157543480 | |||||||
| chr2:157543614 | C | T | 3 | a0001c0001t0037g0186 a0001c0002t0016g0037 a0001c0002t0016g0038 |
3 | HG02615.hp2 HG02622.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.944-752G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 5/8 | chr2 | 157543614 | |||||||
| chr2:157543879 | CT | C | 3 | a0001c0001t0037g0186 a0001c0002t0016g0037 a0001c0002t0016g0038 |
3 | HG02615.hp2 HG02622.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.943+565delA | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 5/8 | chr2 | 157543879 | |||||||
| chr2:157544035 | CT | C | 15 | a0001c0001t0001g0152 a0001c0001t0029g0014 a0001c0002t0001g0112 others(12): Show |
15 | HG01256.hp1 HG01256.hp2 HG02145.hp2 others(12): Show |
intron_variant | MODIFIER | c.943+409delA | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 5/8 | chr2 | 157544035 | |||||||
| chr2:157544071 | T | C | 151 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 others(148): Show |
152 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.943+374A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 5/8 | chr2 | 157544071 | |||||||
| chr2:157544109 | A | G | 3 | a0001c0001t0029g0014 a0001c0002t0028g0048 a0002c0003t0009g0036 |
3 | HG02280.hp2 HG02922.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.943+336T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 5/8 | chr2 | 157544109 | |||||||
| chr2:157544135 | C | T | 1 | a0001c0002t0001g0110 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.943+310G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 5/8 | chr2 | 157544135 | |||||||
| chr2:157544168 | G | A | 3 | a0001c0012t0003g0051 a0002c0008t0002g0106 a0002c0008t0027g0105 |
3 | HG02145.hp2 HG02976.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.943+277C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 5/8 | chr2 | 157544168 | |||||||
| chr2:157544202 | A | AT | 23 | a0001c0001t0001g0020 a0001c0001t0001g0197 a0001c0001t0004g0185 others(20): Show |
23 | HG01192.hp1 HG01261.hp1 HG01358.hp2 others(20): Show |
intron_variant | MODIFIER | c.943+242dupA | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 5/8 | chr2 | 157544202 | |||||||
| chr2:157544202 | AT | A | 5 | a0001c0001t0030g0086 a0001c0002t0001g0070 a0001c0002t0014g0049 others(2): Show |
5 | HG01515.hp1 HG02647.hp1 HG02738.hp2 others(2): Show |
intron_variant | MODIFIER | c.943+242delA | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 5/8 | chr2 | 157544202 | |||||||
| chr2:157544202 | ATT | A | 6 | a0001c0001t0012g0192 a0001c0001t0012g0193 a0001c0001t0037g0186 others(3): Show |
6 | HG02280.hp1 HG02615.hp2 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.943+241_943+242del others(2): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 5/8 | chr2 | 157544202 | |||||||
| chr2:157544294 | C | A | 135 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 others(132): Show |
136 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(133): Show |
intron_variant | MODIFIER | c.943+151G>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 5/8 | chr2 | 157544294 | |||||||
| chr2:157544335 | G | A | 3 | a0001c0012t0003g0051 a0002c0008t0002g0106 a0002c0008t0027g0105 |
3 | HG02145.hp2 HG02976.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.943+110C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 5/8 | chr2 | 157544335 | |||||||
| chr2:157544396 | C | T | 147 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 others(144): Show |
148 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(145): Show |
intron_variant | MODIFIER | c.943+49G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 5/8 | chr2 | 157544396 | |||||||
| chr2:157544625 | T | C | 132 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 others(129): Show |
133 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(130): Show |
intron_variant | MODIFIER | c.776-13A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157544625 | |||||||
| chr2:157544872 | C | G | 1 | a0002c0003t0017g0215 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.776-260G>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157544872 | |||||||
| chr2:157545631 | T | C | 4 | a0001c0002t0001g0129 a0001c0002t0001g0204 a0001c0002t0004g0114 others(1): Show |
4 | NA18612.hp1 NA19009.hp1 NA19009.hp2 others(1): Show |
intron_variant | MODIFIER | c.776-1019A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157545631 | |||||||
| chr2:157545761 | C | T | 6 | a0001c0001t0012g0192 a0001c0001t0012g0193 a0001c0001t0037g0186 others(3): Show |
6 | HG02280.hp1 HG02615.hp2 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.776-1149G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157545761 | |||||||
| chr2:157545805 | C | T | 1 | a0002c0003t0002g0057 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.776-1193G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157545805 | |||||||
| chr2:157545920 | A | G | 6 | a0001c0001t0012g0192 a0001c0001t0012g0193 a0001c0001t0037g0186 others(3): Show |
6 | HG02280.hp1 HG02615.hp2 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.776-1308T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157545920 | |||||||
| chr2:157546034 | G | C | 128 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 others(125): Show |
129 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(126): Show |
intron_variant | MODIFIER | c.776-1422C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157546034 | |||||||
| chr2:157546071 | C | T | 2 | a0001c0001t0011g0166 a0001c0001t0011g0167 |
2 | HG02109.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.776-1459G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157546071 | |||||||
| chr2:157546626 | G | A | 3 | a0001c0001t0037g0186 a0001c0002t0016g0037 a0001c0002t0016g0038 |
3 | HG02615.hp2 HG02622.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.776-2014C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157546626 | |||||||
| chr2:157546743 | C | T | 3 | a0001c0001t0037g0186 a0001c0002t0016g0037 a0001c0002t0016g0038 |
3 | HG02615.hp2 HG02622.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.776-2131G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157546743 | |||||||
| chr2:157546744 | G | A | 1 | a0001c0001t0004g0139 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.776-2132C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157546744 | |||||||
| chr2:157546889 | C | T | 1 | a0002c0003t0009g0036 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.776-2277G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157546889 | |||||||
| chr2:157546922 | T | A | 4 | a0002c0003t0007g0100 a0002c0003t0013g0050 a0002c0003t0026g0107 others(1): Show |
4 | HG02559.hp1 HG02723.hp2 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.776-2310A>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157546922 | |||||||
| chr2:157546923 | C | T | 4 | a0002c0003t0007g0100 a0002c0003t0013g0050 a0002c0003t0026g0107 others(1): Show |
4 | HG02559.hp1 HG02723.hp2 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.776-2311G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157546923 | |||||||
| chr2:157546949 | C | G | 3 | a0001c0001t0012g0192 a0001c0001t0012g0193 a0001c0002t0001g0030 |
3 | HG02280.hp1 HG03098.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.776-2337G>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157546949 | |||||||
| chr2:157547152 | A | C | 1 | a0002c0004t0010g0191 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.776-2540T>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157547152 | |||||||
| chr2:157547195 | G | A | 8 | a0001c0001t0012g0192 a0001c0001t0012g0193 a0001c0001t0037g0186 others(5): Show |
8 | HG02280.hp1 HG02486.hp1 HG02615.hp2 others(5): Show |
intron_variant | MODIFIER | c.776-2583C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157547195 | |||||||
| chr2:157547250 | C | T | 27 | a0001c0002t0001g0055 a0001c0002t0001g0084 a0001c0002t0001g0101 others(24): Show |
27 | HG00741.hp1 HG01074.hp2 HG01192.hp2 others(24): Show |
intron_variant | MODIFIER | c.776-2638G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157547250 | |||||||
| chr2:157547262 | A | G | 3 | a0001c0001t0037g0186 a0001c0002t0016g0037 a0001c0002t0016g0038 |
3 | HG02615.hp2 HG02622.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.776-2650T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157547262 | |||||||
| chr2:157547269 | A | G | 7 | a0001c0001t0001g0201 a0001c0002t0014g0049 a0002c0003t0007g0012 others(4): Show |
7 | HG01884.hp2 HG02602.hp1 HG02647.hp1 others(4): Show |
intron_variant | MODIFIER | c.776-2657T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157547269 | |||||||
| chr2:157547277 | C | T | 3 | a0001c0001t0037g0186 a0001c0002t0016g0037 a0001c0002t0016g0038 |
3 | HG02615.hp2 HG02622.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.776-2665G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157547277 | |||||||
| chr2:157547279 | T | C | 136 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 others(133): Show |
137 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(134): Show |
intron_variant | MODIFIER | c.776-2667A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157547279 | |||||||
| chr2:157547280 | G | C | 3 | a0001c0001t0037g0186 a0001c0002t0016g0037 a0001c0002t0016g0038 |
3 | HG02615.hp2 HG02622.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.776-2668C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157547280 | |||||||
| chr2:157547317 | C | A | 4 | a0001c0001t0037g0186 a0001c0002t0001g0119 a0001c0002t0016g0037 others(1): Show |
4 | HG02615.hp2 HG02622.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.776-2705G>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157547317 | |||||||
| chr2:157547373 | G | C | 2 | a0001c0001t0012g0192 a0001c0001t0012g0193 |
2 | HG02280.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.776-2761C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157547373 | |||||||
| chr2:157547382 | G | A | 3 | a0001c0002t0001g0129 a0001c0002t0001g0204 a0001c0002t0004g0130 |
3 | NA18612.hp1 NA19009.hp1 NA19009.hp2 |
intron_variant | MODIFIER | c.776-2770C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157547382 | |||||||
| chr2:157547410 | T | G | 6 | a0001c0007t0012g0085 a0001c0007t0025g0080 a0001c0012t0003g0051 others(3): Show |
6 | HG02145.hp2 HG02809.hp2 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.775+2752A>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157547410 | |||||||
| chr2:157547421 | T | G | 27 | a0001c0001t0001g0002 a0001c0001t0001g0148 a0001c0001t0001g0156 others(24): Show |
27 | HG00544.hp2 HG00621.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.775+2741A>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157547421 | |||||||
| chr2:157547445 | G | C | 11 | a0002c0003t0005g0008 a0002c0003t0005g0095 a0002c0003t0005g0096 others(8): Show |
11 | HG01168.hp1 HG01169.hp2 HG02109.hp2 others(8): Show |
intron_variant | MODIFIER | c.775+2717C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157547445 | |||||||
| chr2:157547527 | G | A | 3 | a0001c0001t0037g0186 a0001c0002t0016g0037 a0001c0002t0016g0038 |
3 | HG02615.hp2 HG02622.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.775+2635C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157547527 | |||||||
| chr2:157547536 | T | A | 3 | a0001c0001t0037g0186 a0001c0002t0016g0037 a0001c0002t0016g0038 |
3 | HG02615.hp2 HG02622.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.775+2626A>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157547536 | |||||||
| chr2:157547572 | C | T | 3 | a0001c0001t0037g0186 a0001c0002t0016g0037 a0001c0002t0016g0038 |
3 | HG02615.hp2 HG02622.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.775+2590G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157547572 | |||||||
| chr2:157547574 | G | A | 3 | a0001c0001t0037g0186 a0001c0002t0016g0037 a0001c0002t0016g0038 |
3 | HG02615.hp2 HG02622.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.775+2588C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157547574 | |||||||
| chr2:157547584 | T | C | 3 | a0001c0001t0037g0186 a0001c0002t0016g0037 a0001c0002t0016g0038 |
3 | HG02615.hp2 HG02622.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.775+2578A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157547584 | |||||||
| chr2:157547627 | T | A | 2 | a0001c0001t0029g0014 a0001c0002t0028g0048 |
2 | HG02280.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.775+2535A>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157547627 | |||||||
| chr2:157547644 | T | C | 9 | a0001c0001t0037g0186 a0001c0002t0016g0037 a0001c0002t0016g0038 others(6): Show |
9 | HG02145.hp2 HG02615.hp2 HG02622.hp2 others(6): Show |
intron_variant | MODIFIER | c.775+2518A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157547644 | |||||||
| chr2:157547675 | C | T | 150 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 others(147): Show |
151 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(148): Show |
intron_variant | MODIFIER | c.775+2487G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157547675 | |||||||
| chr2:157547739 | C | T | 6 | a0001c0001t0012g0192 a0001c0001t0012g0193 a0001c0001t0037g0186 others(3): Show |
6 | HG02280.hp1 HG02615.hp2 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.775+2423G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157547739 | |||||||
| chr2:157547772 | T | G | 23 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0148 others(20): Show |
23 | HG00544.hp2 HG00621.hp1 HG01169.hp1 others(20): Show |
intron_variant | MODIFIER | c.775+2390A>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157547772 | |||||||
| chr2:157547818 | T | G | 3 | a0001c0001t0037g0186 a0001c0002t0016g0037 a0001c0002t0016g0038 |
3 | HG02615.hp2 HG02622.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.775+2344A>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157547818 | |||||||
| chr2:157548000 | G | A | 2 | a0003c0006t0005g0168 a0003c0006t0005g0187 |
2 | HG01515.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.775+2162C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157548000 | |||||||
| chr2:157548053 | T | A | 1 | a0001c0002t0023g0007 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.775+2109A>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157548053 | |||||||
| chr2:157548163 | G | A | 3 | a0001c0001t0037g0186 a0001c0002t0016g0037 a0001c0002t0016g0038 |
3 | HG02615.hp2 HG02622.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.775+1999C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157548163 | |||||||
| chr2:157548180 | G | T | 1 | a0002c0003t0017g0214 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.775+1982C>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157548180 | |||||||
| chr2:157548189 | G | C | 1 | a0002c0003t0017g0214 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.775+1973C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157548189 | |||||||
| chr2:157548273 | C | A | 1 | a0002c0003t0017g0214 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.775+1889G>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157548273 | |||||||
| chr2:157548282 | T | C | 1 | a0002c0003t0017g0214 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.775+1880A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157548282 | |||||||
| chr2:157548323 | G | C | 1 | a0001c0001t0001g0156 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.775+1839C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157548323 | |||||||
| chr2:157548400 | A | C | 1 | a0002c0003t0002g0039 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.775+1762T>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157548400 | |||||||
| chr2:157548461 | A | G | 6 | a0001c0001t0012g0192 a0001c0001t0012g0193 a0001c0001t0037g0186 others(3): Show |
6 | HG02280.hp1 HG02615.hp2 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.775+1701T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157548461 | |||||||
| chr2:157548491 | C | A | 1 | a0001c0002t0001g0205 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.775+1671G>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157548491 | |||||||
| chr2:157548620 | C | T | 12 | a0001c0001t0012g0192 a0001c0001t0012g0193 a0001c0001t0037g0186 others(9): Show |
12 | HG02145.hp2 HG02280.hp1 HG02615.hp2 others(9): Show |
intron_variant | MODIFIER | c.775+1542G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157548620 | |||||||
| chr2:157548771 | A | G | 1 | a0001c0002t0023g0007 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.775+1391T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157548771 | |||||||
| chr2:157548851 | G | C | 3 | a0001c0012t0003g0051 a0002c0008t0002g0106 a0002c0008t0027g0105 |
3 | HG02145.hp2 HG02976.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.775+1311C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157548851 | |||||||
| chr2:157548863 | T | G | 136 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 others(133): Show |
137 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(134): Show |
intron_variant | MODIFIER | c.775+1299A>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157548863 | |||||||
| chr2:157548946 | C | T | 1 | a0001c0001t0003g0163 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.775+1216G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157548946 | |||||||
| chr2:157549120 | C | T | 3 | a0001c0001t0037g0186 a0001c0002t0016g0037 a0001c0002t0016g0038 |
3 | HG02615.hp2 HG02622.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.775+1042G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157549120 | |||||||
| chr2:157549216 | A | G | 6 | a0001c0001t0012g0192 a0001c0001t0012g0193 a0001c0001t0037g0186 others(3): Show |
6 | HG02280.hp1 HG02615.hp2 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.775+946T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157549216 | |||||||
| chr2:157549459 | A | G | 1 | a0001c0002t0004g0113 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.775+703T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157549459 | |||||||
| chr2:157549461 | A | C | 6 | a0001c0001t0012g0192 a0001c0001t0012g0193 a0001c0001t0037g0186 others(3): Show |
6 | HG02280.hp1 HG02615.hp2 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.775+701T>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157549461 | |||||||
| chr2:157549501 | G | A | 6 | a0001c0002t0014g0049 a0002c0003t0007g0012 a0002c0003t0007g0076 others(3): Show |
6 | HG01884.hp2 HG02647.hp1 HG02717.hp2 others(3): Show |
intron_variant | MODIFIER | c.775+661C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157549501 | |||||||
| chr2:157549546 | A | G | 1 | a0001c0001t0001g0178 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.775+616T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157549546 | |||||||
| chr2:157549660 | T | TA | 2 | a0001c0001t0011g0166 a0001c0001t0011g0167 |
2 | HG02109.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.775+501dupT | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157549660 | |||||||
| chr2:157549694 | C | T | 1 | a0002c0008t0027g0105 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.775+468G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157549694 | |||||||
| chr2:157549752 | G | A | 3 | a0001c0001t0012g0192 a0001c0001t0012g0193 a0001c0002t0001g0030 |
3 | HG02280.hp1 HG03098.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.775+410C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157549752 | |||||||
| chr2:157549829 | C | CA | 30 | a0001c0001t0001g0020 a0001c0001t0001g0147 a0001c0001t0001g0155 others(27): Show |
30 | HG00544.hp2 HG00621.hp1 HG01243.hp2 others(27): Show |
intron_variant | MODIFIER | c.775+332dupT | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157549829 | |||||||
| chr2:157549829 | CA | C | 43 | a0001c0001t0001g0148 a0001c0001t0001g0194 a0001c0001t0004g0139 others(40): Show |
44 | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.775+332delT | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157549829 | |||||||
| chr2:157549864 | G | C | 5 | a0001c0002t0014g0049 a0002c0003t0007g0012 a0002c0003t0007g0076 others(2): Show |
5 | HG01884.hp2 HG02647.hp1 HG02717.hp2 others(2): Show |
intron_variant | MODIFIER | c.775+298C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157549864 | |||||||
| chr2:157549876 | G | A | 1 | a0001c0001t0001g0181 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.775+286C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157549876 | |||||||
| chr2:157549998 | G | A | 7 | a0002c0003t0006g0078 a0002c0003t0009g0025 a0002c0003t0009g0026 others(4): Show |
7 | HG01168.hp1 HG01169.hp2 HG02109.hp2 others(4): Show |
intron_variant | MODIFIER | c.775+164C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157549998 | |||||||
| chr2:157550002 | C | CA | 8 | a0001c0001t0029g0014 a0001c0002t0003g0090 a0001c0002t0014g0049 others(5): Show |
8 | HG01884.hp2 HG02280.hp2 HG02647.hp1 others(5): Show |
intron_variant | MODIFIER | c.775+159dupT | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157550002 | |||||||
| chr2:157550002 | CA | C | 124 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 others(121): Show |
125 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(122): Show |
intron_variant | MODIFIER | c.775+159delT | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157550002 | |||||||
| chr2:157550027 | G | A | 6 | a0001c0001t0012g0192 a0001c0001t0012g0193 a0001c0001t0037g0186 others(3): Show |
6 | HG02280.hp1 HG02615.hp2 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.775+135C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157550027 | |||||||
| chr2:157550037 | A | G | 2 | a0001c0001t0029g0014 a0001c0002t0028g0048 |
2 | HG02280.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.775+125T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | 157550037 | |||||||
| chr2:157550454 | A | G | 6 | a0001c0001t0012g0192 a0001c0001t0012g0193 a0001c0001t0037g0186 others(3): Show |
6 | HG02280.hp1 HG02615.hp2 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.545-62T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157550454 | |||||||
| chr2:157550521 | AAT | A | 10 | a0001c0002t0023g0007 a0002c0003t0006g0078 a0002c0003t0009g0025 others(7): Show |
10 | HG01168.hp1 HG01169.hp2 HG02109.hp2 others(7): Show |
intron_variant | MODIFIER | c.545-131_545-130del others(2): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157550521 | |||||||
| chr2:157550550 | A | G | 4 | a0001c0012t0003g0051 a0002c0008t0002g0106 a0002c0008t0027g0105 others(1): Show |
4 | HG02145.hp2 HG02976.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.545-158T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157550550 | |||||||
| chr2:157550601 | T | G | 1 | a0001c0001t0001g0151 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.545-209A>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157550601 | |||||||
| chr2:157550734 | C | CA | 129 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 others(126): Show |
130 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.545-343dupT | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157550734 | |||||||
| chr2:157550734 | CA | C | 7 | a0001c0001t0003g0164 a0001c0001t0012g0192 a0001c0001t0012g0193 others(4): Show |
7 | HG02280.hp1 HG02615.hp2 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.545-343delT | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157550734 | |||||||
| chr2:157550892 | C | T | 1 | a0001c0002t0001g0205 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.545-500G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157550892 | |||||||
| chr2:157550991 | C | T | 3 | a0001c0009t0011g0159 a0002c0003t0007g0100 a0002c0003t0009g0036 |
3 | HG02922.hp2 HG03130.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.545-599G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157550991 | |||||||
| chr2:157551011 | C | T | 1 | a0002c0003t0009g0036 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.545-619G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157551011 | |||||||
| chr2:157551141 | TGTGAAAT others(4): Show |
T | 3 | a0001c0001t0029g0014 a0001c0002t0028g0048 a0002c0003t0009g0036 |
3 | HG02280.hp2 HG02922.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.545-760_545-750del others(11): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157551141 | |||||||
| chr2:157551175 | G | A | 3 | a0001c0007t0012g0085 a0001c0007t0025g0080 a0002c0011t0002g0011 |
3 | HG02809.hp2 HG02895.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.545-783C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157551175 | |||||||
| chr2:157551279 | C | T | 2 | a0001c0009t0011g0159 a0002c0003t0007g0100 |
2 | HG03130.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.545-887G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157551279 | |||||||
| chr2:157551400 | A | G | 2 | a0002c0003t0002g0034 a0002c0003t0002g0035 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.545-1008T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157551400 | |||||||
| chr2:157551646 | T | C | 3 | a0001c0001t0012g0192 a0001c0001t0012g0193 a0001c0002t0001g0030 |
3 | HG02280.hp1 HG03098.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.545-1254A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157551646 | |||||||
| chr2:157551657 | T | C | 13 | a0001c0001t0012g0192 a0001c0001t0012g0193 a0001c0001t0037g0186 others(10): Show |
13 | HG02145.hp2 HG02280.hp1 HG02615.hp2 others(10): Show |
intron_variant | MODIFIER | c.545-1265A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157551657 | |||||||
| chr2:157552281 | C | T | 1 | a0001c0002t0014g0049 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.545-1889G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157552281 | |||||||
| chr2:157552492 | C | T | 1 | a0001c0001t0003g0163 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.545-2100G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157552492 | |||||||
| chr2:157552592 | C | T | 13 | a0001c0001t0011g0166 a0001c0001t0011g0167 a0001c0002t0001g0084 others(10): Show |
13 | HG01361.hp1 HG01891.hp1 HG02109.hp1 others(10): Show |
intron_variant | MODIFIER | c.545-2200G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157552592 | |||||||
| chr2:157552619 | A | G | 117 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 others(114): Show |
118 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(115): Show |
intron_variant | MODIFIER | c.545-2227T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157552619 | |||||||
| chr2:157552688 | T | C | 2 | a0001c0002t0001g0084 a0001c0002t0001g0101 |
2 | HG02486.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.545-2296A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157552688 | |||||||
| chr2:157552776 | G | C | 2 | a0002c0003t0006g0078 a0002c0003t0009g0025 |
2 | HG02109.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.545-2384C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157552776 | |||||||
| chr2:157552905 | G | T | 6 | a0001c0001t0012g0192 a0001c0001t0012g0193 a0001c0001t0037g0186 others(3): Show |
6 | HG02280.hp1 HG02615.hp2 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.545-2513C>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157552905 | |||||||
| chr2:157552989 | T | C | 3 | a0001c0009t0011g0159 a0002c0003t0007g0100 a0002c0004t0013g0018 |
3 | HG02723.hp2 HG03130.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.545-2597A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157552989 | |||||||
| chr2:157553175 | G | C | 26 | a0001c0001t0011g0166 a0001c0001t0011g0167 a0001c0001t0029g0014 others(23): Show |
26 | HG00280.hp2 HG01192.hp2 HG01255.hp2 others(23): Show |
intron_variant | MODIFIER | c.545-2783C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157553175 | |||||||
| chr2:157553344 | C | T | 1 | a0001c0002t0014g0049 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.544+2749G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157553344 | |||||||
| chr2:157553396 | C | CT | 62 | a0001c0001t0005g0150 a0001c0001t0005g0213 a0001c0001t0011g0166 others(59): Show |
62 | HG00280.hp2 HG00323.hp2 HG00642.hp1 others(59): Show |
intron_variant | MODIFIER | c.544+2696dupA | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157553396 | |||||||
| chr2:157553684 | G | T | 64 | a0001c0001t0011g0166 a0001c0001t0011g0167 a0001c0001t0012g0192 others(61): Show |
64 | HG00280.hp2 HG00323.hp2 HG01074.hp2 others(61): Show |
intron_variant | MODIFIER | c.544+2409C>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157553684 | |||||||
| chr2:157553779 | G | A | 17 | a0001c0001t0011g0166 a0001c0001t0011g0167 a0001c0001t0037g0186 others(14): Show |
17 | HG01192.hp1 HG01361.hp1 HG01891.hp1 others(14): Show |
intron_variant | MODIFIER | c.544+2314C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157553779 | |||||||
| chr2:157553944 | T | A | 5 | a0001c0001t0003g0164 a0001c0001t0012g0192 a0001c0001t0012g0193 others(2): Show |
5 | HG02280.hp1 HG02622.hp2 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.544+2149A>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157553944 | |||||||
| chr2:157554000 | T | C | 3 | a0001c0001t0029g0014 a0001c0002t0014g0049 a0001c0002t0028g0048 |
3 | HG02280.hp2 HG02647.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.544+2093A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554000 | |||||||
| chr2:157554192 | T | G | 4 | a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 others(1): Show |
4 | HG02055.hp2 HG02257.hp1 HG02622.hp1 others(1): Show |
intron_variant | MODIFIER | c.544+1901A>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554192 | |||||||
| chr2:157554196 | G | GAGAGAGA others(54): Show |
1 | a0001c0001t0001g0143 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.544+1896_544+1897i others(63): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554196 | |||||||
| chr2:157554201 | G | A | 1 | a0001c0001t0001g0143 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.544+1892C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554201 | |||||||
| chr2:157554201 | G | GAGAA | 7 | a0001c0001t0001g0151 a0001c0001t0001g0160 a0001c0001t0001g0174 others(4): Show |
7 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(4): Show |
intron_variant | MODIFIER | c.544+1888_544+1891d others(6): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554201 | |||||||
| chr2:157554201 | G | GAGAAAAG others(14): Show |
1 | a0002c0003t0010g0031 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.544+1891_544+1892i others(23): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554201 | |||||||
| chr2:157554201 | G | GAGAAAGA others(1): Show |
8 | a0001c0001t0001g0002 a0001c0002t0001g0045 a0001c0002t0001g0055 others(5): Show |
8 | HG00741.hp1 HG01074.hp2 HG01168.hp2 others(5): Show |
intron_variant | MODIFIER | c.544+1884_544+1891d others(10): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554201 | |||||||
| chr2:157554201 | G | GAGAAAGA others(5): Show |
9 | a0001c0001t0001g0179 a0001c0001t0003g0163 a0001c0001t0003g0172 others(6): Show |
9 | HG01261.hp2 HG01361.hp1 HG01433.hp2 others(6): Show |
intron_variant | MODIFIER | c.544+1880_544+1891d others(14): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554201 | |||||||
| chr2:157554201 | G | GAGAAAGA others(9): Show |
9 | a0001c0001t0001g0152 a0001c0001t0001g0188 a0001c0001t0003g0058 others(6): Show |
9 | HG00741.hp2 HG01256.hp1 HG02723.hp2 others(6): Show |
intron_variant | MODIFIER | c.544+1876_544+1891d others(18): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554201 | |||||||
| chr2:157554201 | G | GAGAAAGA others(13): Show |
13 | a0001c0001t0001g0157 a0001c0001t0001g0175 a0001c0001t0001g0202 others(10): Show |
13 | HG00621.hp2 HG00639.hp2 HG01361.hp2 others(10): Show |
intron_variant | MODIFIER | c.544+1872_544+1891d others(22): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554201 | |||||||
| chr2:157554201 | G | GAGAAAGA others(17): Show |
10 | a0001c0001t0001g0206 a0001c0001t0004g0185 a0001c0002t0001g0056 others(7): Show |
10 | HG00280.hp2 HG00621.hp1 HG01256.hp2 others(7): Show |
intron_variant | MODIFIER | c.544+1868_544+1891d others(26): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554201 | |||||||
| chr2:157554201 | G | GAGAAAGA others(21): Show |
6 | a0001c0001t0001g0148 a0001c0001t0001g0211 a0001c0002t0004g0136 others(3): Show |
6 | HG01255.hp1 HG01358.hp2 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.544+1864_544+1891d others(30): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554201 | |||||||
| chr2:157554201 | G | GAGAAAGA others(25): Show |
20 | a0001c0001t0001g0189 a0001c0001t0001g0201 a0001c0001t0001g0203 others(17): Show |
20 | HG00609.hp1 HG00609.hp2 HG01192.hp2 others(17): Show |
intron_variant | MODIFIER | c.544+1860_544+1891d others(34): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554201 | |||||||
| chr2:157554201 | G | GAGAAAGA others(29): Show |
9 | a0001c0001t0001g0147 a0001c0001t0003g0183 a0001c0001t0005g0165 others(6): Show |
9 | HG01192.hp1 HG01243.hp2 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.544+1856_544+1891d others(38): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554201 | |||||||
| chr2:157554201 | G | GAGAAAGA others(33): Show |
9 | a0001c0001t0001g0013 a0001c0001t0001g0145 a0001c0001t0001g0199 others(6): Show |
9 | HG01106.hp2 HG02886.hp1 HG02897.hp2 others(6): Show |
intron_variant | MODIFIER | c.544+1852_544+1891d others(42): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554201 | |||||||
| chr2:157554201 | G | GAGAAAGA others(37): Show |
10 | a0001c0001t0001g0017 a0001c0001t0030g0086 a0001c0002t0001g0127 others(7): Show |
10 | HG00323.hp2 HG02083.hp1 HG02738.hp2 others(7): Show |
intron_variant | MODIFIER | c.544+1848_544+1891d others(46): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554201 | |||||||
| chr2:157554201 | G | GAGAAAGA others(41): Show |
7 | a0001c0001t0001g0019 a0001c0002t0001g0030 a0001c0002t0001g0132 others(4): Show |
7 | HG00544.hp1 HG02080.hp1 HG02897.hp1 others(4): Show |
intron_variant | MODIFIER | c.544+1844_544+1891d others(50): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554201 | |||||||
| chr2:157554201 | G | GAGAAAGA others(45): Show |
6 | a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0012g0193 others(3): Show |
6 | HG02280.hp1 HG02965.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.544+1840_544+1891d others(54): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554201 | |||||||
| chr2:157554201 | G | GAGAAAGA others(49): Show |
3 | a0001c0001t0001g0194 a0001c0001t0001g0200 a0002c0003t0006g0102 |
3 | HG02055.hp1 HG02080.hp2 HG03927.hp1 |
intron_variant | MODIFIER | c.544+1836_544+1891d others(58): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554201 | |||||||
| chr2:157554201 | G | GAGAAAGA others(53): Show |
1 | a0001c0001t0005g0158 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.544+1832_544+1891d others(62): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554201 | |||||||
| chr2:157554201 | G | GAGAAAGA others(61): Show |
2 | a0001c0001t0004g0139 a0002c0003t0002g0029 |
2 | HG02630.hp2 NA19077.hp2 |
intron_variant | MODIFIER | c.544+1824_544+1891d others(70): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554201 | |||||||
| chr2:157554201 | G | GAGAAAGA others(65): Show |
1 | a0001c0001t0001g0015 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.544+1891_544+1892i others(74): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554201 | |||||||
| chr2:157554201 | G | GAGAAAGA others(69): Show |
1 | a0001c0001t0001g0155 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.544+1891_544+1892i others(78): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554201 | |||||||
| chr2:157554201 | G | GAGAAAGA others(73): Show |
1 | a0001c0002t0001g0208 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.544+1891_544+1892i others(82): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554201 | |||||||
| chr2:157554201 | G | GAGAAAGA others(20): Show |
1 | a0002c0003t0009g0036 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.544+1891_544+1892i others(29): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554201 | |||||||
| chr2:157554201 | G | GAGAAGAA others(12): Show |
1 | a0001c0001t0003g0177 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.544+1891_544+1892i others(21): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554201 | |||||||
| chr2:157554201 | G | GAGAAGAA others(20): Show |
1 | a0001c0001t0012g0192 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.544+1891_544+1892i others(29): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554201 | |||||||
| chr2:157554201 | G | GAGAAGAA others(56): Show |
1 | a0001c0002t0004g0135 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.544+1891_544+1892i others(65): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554201 | |||||||
| chr2:157554201 | G | GAGAGAAA others(11): Show |
1 | a0001c0001t0001g0003 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.544+1891_544+1892i others(20): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554201 | |||||||
| chr2:157554201 | G | GAGAGAGA others(29): Show |
1 | a0002c0005t0009g0009 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.544+1891_544+1892i others(38): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554201 | |||||||
| chr2:157554201 | G | GAGAGAGA others(45): Show |
1 | a0002c0005t0007g0005 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.544+1891_544+1892i others(54): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554201 | |||||||
| chr2:157554201 | G | GAGAGAGA others(43): Show |
1 | a0002c0003t0006g0109 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.544+1891_544+1892i others(52): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554201 | |||||||
| chr2:157554201 | G | GAGAGAGA others(51): Show |
1 | a0002c0005t0007g0004 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.544+1891_544+1892i others(60): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554201 | |||||||
| chr2:157554201 | G | GAGAGAGA others(33): Show |
1 | a0002c0008t0027g0105 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.544+1891_544+1892i others(42): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554201 | |||||||
| chr2:157554201 | G | GAGAGAGA others(17): Show |
1 | a0002c0008t0002g0106 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.544+1891_544+1892i others(26): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554201 | |||||||
| chr2:157554201 | G | GAGAGAGA others(55): Show |
1 | a0001c0002t0024g0108 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.544+1891_544+1892i others(64): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554201 | |||||||
| chr2:157554201 | GAGAA | G | 6 | a0001c0001t0001g0197 a0001c0001t0003g0182 a0001c0001t0003g0190 others(3): Show |
6 | HG02970.hp1 HG03195.hp2 HG03579.hp1 others(3): Show |
intron_variant | MODIFIER | c.544+1888_544+1891d others(6): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554201 | |||||||
| chr2:157554201 | GAGAAAGA others(1): Show |
G | 4 | a0001c0002t0001g0027 a0001c0002t0001g0065 a0001c0002t0001g0070 others(1): Show |
5 | HG01515.hp1 HG01516.hp1 HG01517.hp1 others(2): Show |
intron_variant | MODIFIER | c.544+1884_544+1891d others(10): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554201 | |||||||
| chr2:157554201 | GAGAAAGA others(9): Show |
G | 7 | a0001c0002t0008g0066 a0001c0002t0008g0073 a0001c0002t0008g0140 others(4): Show |
7 | HG00642.hp2 HG01168.hp1 HG01169.hp2 others(4): Show |
intron_variant | MODIFIER | c.544+1876_544+1891d others(18): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554201 | |||||||
| chr2:157554201 | GAGAAAGA others(17): Show |
G | 3 | a0001c0002t0001g0063 a0001c0002t0003g0072 a0001c0002t0038g0071 |
3 | HG01106.hp1 HG01243.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.544+1868_544+1891d others(26): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554201 | |||||||
| chr2:157554217 | A | AAGAAAGA others(9): Show |
1 | a0002c0011t0002g0011 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.544+1875_544+1876i others(18): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554217 | |||||||
| chr2:157554233 | A | G | 3 | a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 |
3 | HG02055.hp2 HG02257.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.544+1860T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554233 | |||||||
| chr2:157554256 | A | G | 1 | a0001c0002t0023g0007 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.544+1837T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554256 | |||||||
| chr2:157554257 | A | G | 1 | a0002c0003t0013g0050 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.544+1836T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554257 | |||||||
| chr2:157554260 | A | G | 1 | a0001c0002t0023g0007 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.544+1833T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554260 | |||||||
| chr2:157554261 | A | G | 1 | a0002c0003t0013g0050 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.544+1832T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554261 | |||||||
| chr2:157554264 | A | G | 1 | a0001c0002t0023g0007 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.544+1829T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554264 | |||||||
| chr2:157554265 | A | G | 1 | a0002c0003t0013g0050 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.544+1828T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554265 | |||||||
| chr2:157554268 | A | AAAGAAAG others(28): Show |
1 | a0001c0002t0005g0092 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.544+1824_544+1825i others(37): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554268 | |||||||
| chr2:157554268 | A | AAAGAAAG others(57): Show |
2 | a0001c0002t0004g0130 a0002c0003t0007g0028 |
2 | HG03195.hp1 NA18612.hp1 |
intron_variant | MODIFIER | c.544+1824_544+1825i others(66): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554268 | |||||||
| chr2:157554268 | A | AAAGAAAG others(61): Show |
1 | a0001c0002t0004g0114 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.544+1824_544+1825i others(70): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554268 | |||||||
| chr2:157554268 | A | AAAGAAAG others(53): Show |
1 | a0001c0002t0014g0049 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.544+1824_544+1825i others(62): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554268 | |||||||
| chr2:157554268 | A | AAAGAAAG others(45): Show |
6 | a0001c0001t0001g0146 a0001c0001t0001g0156 a0001c0001t0033g0195 others(3): Show |
6 | HG00544.hp2 HG01975.hp2 NA18612.hp2 others(3): Show |
intron_variant | MODIFIER | c.544+1824_544+1825i others(54): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554268 | |||||||
| chr2:157554268 | A | AAAGAAAG others(41): Show |
1 | a0002c0003t0009g0026 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.544+1824_544+1825i others(50): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554268 | |||||||
| chr2:157554268 | A | AAAGAAAG others(59): Show |
1 | a0002c0003t0026g0107 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.544+1824_544+1825i others(68): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554268 | |||||||
| chr2:157554268 | A | AAAGAAAG others(33): Show |
4 | a0001c0001t0001g0181 a0001c0001t0001g0210 a0001c0001t0011g0166 others(1): Show |
4 | HG00558.hp1 HG01884.hp1 HG02109.hp1 others(1): Show |
intron_variant | MODIFIER | c.544+1824_544+1825i others(42): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554268 | |||||||
| chr2:157554268 | A | AAAGAAAG others(49): Show |
1 | a0002c0003t0002g0006 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.544+1824_544+1825i others(58): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554268 | |||||||
| chr2:157554268 | A | AAAGAAAG others(25): Show |
1 | a0002c0003t0002g0023 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.544+1824_544+1825i others(34): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554268 | |||||||
| chr2:157554268 | A | AAAGAAAG others(21): Show |
1 | a0002c0003t0002g0024 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.544+1824_544+1825i others(30): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554268 | |||||||
| chr2:157554268 | A | AAAGAAAG others(25): Show |
1 | a0001c0002t0001g0041 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.544+1824_544+1825i others(34): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554268 | |||||||
| chr2:157554268 | A | AAAGAAAG others(73): Show |
1 | a0002c0003t0017g0214 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.544+1824_544+1825i others(82): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554268 | |||||||
| chr2:157554268 | A | AAAGAAAG others(17): Show |
1 | a0002c0013t0010g0052 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.544+1824_544+1825i others(26): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554268 | |||||||
| chr2:157554268 | A | AAAGAAAG others(21): Show |
1 | a0001c0002t0001g0043 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.544+1824_544+1825i others(30): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554268 | |||||||
| chr2:157554268 | A | AAAGAAAG others(17): Show |
2 | a0001c0002t0001g0032 a0001c0002t0028g0048 |
2 | HG02280.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.544+1824_544+1825i others(26): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554268 | |||||||
| chr2:157554268 | A | AAAGAAAG others(61): Show |
1 | a0002c0003t0017g0215 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.544+1824_544+1825i others(70): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554268 | |||||||
| chr2:157554268 | A | AAAGAAAG others(13): Show |
1 | a0001c0002t0001g0042 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.544+1824_544+1825i others(22): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554268 | |||||||
| chr2:157554268 | A | AAAGAAAG others(17): Show |
1 | a0002c0003t0002g0057 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.544+1824_544+1825i others(26): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554268 | |||||||
| chr2:157554268 | A | AAAGAAAG others(25): Show |
1 | a0001c0002t0005g0033 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.544+1824_544+1825i others(34): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554268 | |||||||
| chr2:157554268 | A | AAAGAAAG others(5): Show |
1 | a0001c0001t0011g0167 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.544+1824_544+1825i others(14): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554268 | |||||||
| chr2:157554268 | A | AAAGAAAG others(51): Show |
1 | a0001c0010t0004g0126 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.544+1824_544+1825i others(60): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554268 | |||||||
| chr2:157554268 | A | AAAGAAAG others(9): Show |
1 | a0001c0001t0001g0176 | 1 | NA19072.hp2 | intron_variant | MODIFIER | c.544+1824_544+1825i others(18): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554268 | |||||||
| chr2:157554268 | A | AAAGGAAG others(5): Show |
1 | a0001c0001t0005g0150 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.544+1813_544+1824d others(14): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554268 | |||||||
| chr2:157554268 | A | G | 5 | a0001c0002t0001g0065 a0001c0002t0023g0007 a0002c0003t0009g0036 others(2): Show |
5 | HG02738.hp1 HG02809.hp2 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.544+1825T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554268 | |||||||
| chr2:157554269 | A | G | 1 | a0002c0003t0013g0050 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.544+1824T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554269 | |||||||
| chr2:157554271 | G | GAAAGAAA others(48): Show |
1 | a0001c0002t0003g0134 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.544+1821_544+1822i others(57): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554271 | |||||||
| chr2:157554272 | G | A | 22 | a0001c0001t0003g0154 a0001c0002t0001g0075 a0001c0002t0001g0101 others(19): Show |
22 | HG00544.hp1 HG00639.hp2 HG01975.hp1 others(19): Show |
intron_variant | MODIFIER | c.544+1821C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554272 | |||||||
| chr2:157554276 | G | A | 2 | a0001c0002t0001g0101 a0001c0002t0024g0108 |
2 | HG02486.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.544+1817C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554276 | |||||||
| chr2:157554279 | G | A | 4 | a0001c0002t0001g0081 a0001c0002t0016g0037 a0001c0002t0016g0038 others(1): Show |
4 | HG02622.hp2 HG02809.hp1 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.544+1814C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554279 | |||||||
| chr2:157554280 | G | A | 2 | a0001c0002t0001g0101 a0002c0003t0013g0050 |
2 | HG02886.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.544+1813C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554280 | |||||||
| chr2:157554281 | A | G | 2 | a0001c0001t0001g0202 a0002c0003t0013g0050 |
2 | HG02071.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.544+1812T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554281 | |||||||
| chr2:157554283 | G | GGA | 16 | a0001c0002t0001g0030 a0001c0002t0003g0090 a0001c0002t0014g0049 others(13): Show |
16 | HG02109.hp2 HG02145.hp2 HG02280.hp2 others(13): Show |
intron_variant | MODIFIER | c.544+1809_544+1810i others(4): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554283 | |||||||
| chr2:157554284 | A | G | 21 | a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 others(18): Show |
21 | HG02055.hp2 HG02145.hp1 HG02257.hp1 others(18): Show |
intron_variant | MODIFIER | c.544+1809T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554284 | |||||||
| chr2:157554285 | G | A | 15 | a0001c0002t0001g0081 a0001c0002t0001g0101 a0001c0002t0001g0112 others(12): Show |
15 | HG02145.hp1 HG02486.hp2 HG02572.hp2 others(12): Show |
intron_variant | MODIFIER | c.544+1808C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554285 | |||||||
| chr2:157554286 | A | G | 2 | a0001c0002t0014g0049 a0001c0002t0028g0048 |
2 | HG02280.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.544+1807T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554286 | |||||||
| chr2:157554287 | G | A | 12 | a0001c0002t0001g0081 a0001c0002t0001g0112 a0001c0002t0016g0037 others(9): Show |
12 | HG02145.hp1 HG02486.hp2 HG02572.hp2 others(9): Show |
intron_variant | MODIFIER | c.544+1806C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554287 | |||||||
| chr2:157554287 | G | GAAAGAAA others(17): Show |
1 | a0001c0002t0001g0101 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.544+1805_544+1806i others(26): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554287 | |||||||
| chr2:157554337 | GAGAGAAA others(7): Show |
G | 13 | a0001c0012t0003g0051 a0002c0003t0002g0006 a0002c0003t0002g0010 others(10): Show |
13 | HG01261.hp1 HG02145.hp2 HG02630.hp1 others(10): Show |
intron_variant | MODIFIER | c.544+1742_544+1755d others(16): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554337 | |||||||
| chr2:157554382 | GGGAA | G | 3 | a0001c0002t0001g0101 a0002c0003t0002g0006 a0002c0003t0026g0107 |
3 | HG01261.hp1 HG02559.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.544+1707_544+1710d others(6): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554382 | |||||||
| chr2:157554426 | GA | G | 2 | a0001c0002t0001g0101 a0002c0003t0026g0107 |
2 | HG02559.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.544+1666delT | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554426 | |||||||
| chr2:157554451 | G | A | 1 | a0001c0002t0001g0101 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.544+1642C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554451 | |||||||
| chr2:157554483 | T | C | 1 | a0001c0002t0001g0208 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.544+1610A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554483 | |||||||
| chr2:157554650 | T | C | 7 | a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 others(4): Show |
7 | HG01168.hp2 HG02055.hp2 HG02257.hp1 others(4): Show |
intron_variant | MODIFIER | c.544+1443A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554650 | |||||||
| chr2:157554908 | G | GAT | 2 | a0001c0002t0001g0119 a0002c0003t0013g0050 |
2 | HG02886.hp2 NA18998.hp2 |
intron_variant | MODIFIER | c.544+1183_544+1184d others(4): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554908 | |||||||
| chr2:157554990 | C | T | 1 | a0001c0001t0001g0020 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.544+1103G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157554990 | |||||||
| chr2:157555068 | T | C | 10 | a0001c0002t0016g0037 a0001c0002t0016g0038 a0001c0002t0024g0108 others(7): Show |
10 | HG02145.hp1 HG02486.hp2 HG02572.hp2 others(7): Show |
intron_variant | MODIFIER | c.544+1025A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157555068 | |||||||
| chr2:157555101 | C | CT | 40 | a0001c0001t0001g0020 a0001c0001t0001g0145 a0001c0001t0001g0148 others(37): Show |
40 | HG00280.hp1 HG00323.hp1 HG00544.hp1 others(37): Show |
intron_variant | MODIFIER | c.544+991dupA | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157555101 | |||||||
| chr2:157555101 | C | CTTTTTTT others(3): Show |
6 | a0001c0002t0024g0108 a0002c0003t0006g0109 a0002c0003t0026g0107 others(3): Show |
6 | HG02145.hp1 HG02486.hp2 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.544+982_544+991dup others(10): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157555101 | |||||||
| chr2:157555101 | C | CTTTTTTT others(4): Show |
8 | a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 others(5): Show |
8 | HG01168.hp2 HG02055.hp2 HG02257.hp1 others(5): Show |
intron_variant | MODIFIER | c.544+981_544+991dup others(11): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157555101 | |||||||
| chr2:157555101 | C | CTTTTTTT others(7): Show |
1 | a0002c0003t0002g0057 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.544+978_544+991dup others(14): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157555101 | |||||||
| chr2:157555101 | C | CTTTTTTT others(12): Show |
7 | a0002c0003t0005g0008 a0002c0003t0005g0095 a0002c0003t0005g0096 others(4): Show |
7 | HG02630.hp1 HG02717.hp2 HG03041.hp2 others(4): Show |
intron_variant | MODIFIER | c.544+973_544+991dup others(19): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157555101 | |||||||
| chr2:157555101 | C | CTTTTTTT others(13): Show |
1 | a0002c0003t0002g0010 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.544+972_544+991dup others(20): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157555101 | |||||||
| chr2:157555101 | CT | C | 19 | a0001c0001t0001g0197 a0001c0001t0011g0166 a0001c0002t0001g0056 others(16): Show |
19 | HG00280.hp2 HG00741.hp1 HG01243.hp1 others(16): Show |
intron_variant | MODIFIER | c.544+991delA | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157555101 | |||||||
| chr2:157555101 | CTT | C | 38 | a0001c0001t0001g0196 a0001c0001t0005g0213 a0001c0002t0001g0032 others(35): Show |
39 | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(36): Show |
intron_variant | MODIFIER | c.544+990_544+991del others(2): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157555101 | |||||||
| chr2:157555101 | CTTT | C | 13 | a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0005g0033 others(10): Show |
13 | HG01891.hp1 HG02109.hp2 HG02683.hp2 others(10): Show |
intron_variant | MODIFIER | c.544+989_544+991del others(3): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157555101 | |||||||
| chr2:157555151 | A | G | 15 | a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 others(12): Show |
15 | HG01168.hp2 HG02055.hp2 HG02145.hp1 others(12): Show |
intron_variant | MODIFIER | c.544+942T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157555151 | |||||||
| chr2:157555167 | G | A | 3 | a0001c0001t0003g0163 a0001c0001t0003g0209 a0001c0001t0004g0185 |
3 | NA18747.hp1 NA18988.hp2 NA18990.hp2 |
intron_variant | MODIFIER | c.544+926C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157555167 | |||||||
| chr2:157555264 | G | A | 74 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0005g0213 others(71): Show |
75 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(72): Show |
intron_variant | MODIFIER | c.544+829C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157555264 | |||||||
| chr2:157555480 | T | C | 1 | a0001c0002t0001g0101 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.544+613A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157555480 | |||||||
| chr2:157555507 | C | T | 2 | a0001c0001t0001g0188 a0001c0002t0001g0112 |
2 | HG00741.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.544+586G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157555507 | |||||||
| chr2:157555705 | C | T | 1 | a0001c0002t0001g0084 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.544+388G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157555705 | |||||||
| chr2:157555792 | G | A | 1 | a0001c0002t0003g0021 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.544+301C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157555792 | |||||||
| chr2:157555829 | G | A | 4 | a0001c0002t0024g0108 a0002c0003t0006g0109 a0002c0008t0002g0106 others(1): Show |
4 | HG02145.hp1 HG02486.hp2 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.544+264C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157555829 | |||||||
| chr2:157556030 | T | C | 90 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0003g0183 others(87): Show |
91 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(88): Show |
intron_variant | MODIFIER | c.544+63A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | 157556030 | |||||||
| chr2:157556366 | A | G | 14 | a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0032 others(11): Show |
14 | HG01891.hp1 HG02109.hp2 HG02630.hp2 others(11): Show |
intron_variant | MODIFIER | c.305-34T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157556366 | |||||||
| chr2:157556657 | C | CT | 19 | a0001c0001t0001g0002 a0001c0001t0001g0148 a0001c0001t0001g0197 others(16): Show |
19 | HG00099.hp1 HG00280.hp2 HG00621.hp1 others(16): Show |
intron_variant | MODIFIER | c.305-326dupA | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157556657 | |||||||
| chr2:157556657 | CT | C | 36 | a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0199 others(33): Show |
36 | HG00323.hp1 HG01169.hp2 HG01515.hp1 others(33): Show |
intron_variant | MODIFIER | c.305-326delA | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157556657 | |||||||
| chr2:157556657 | CTTT | C | 39 | a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 others(36): Show |
39 | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(36): Show |
intron_variant | MODIFIER | c.305-328_305-326del others(3): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157556657 | |||||||
| chr2:157556657 | CTTTT | C | 7 | a0001c0002t0001g0121 a0001c0002t0001g0128 a0001c0002t0001g0208 others(4): Show |
7 | HG01975.hp1 HG02559.hp1 HG02976.hp2 others(4): Show |
intron_variant | MODIFIER | c.305-329_305-326del others(4): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157556657 | |||||||
| chr2:157556699 | G | T | 131 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0005g0213 others(128): Show |
132 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(129): Show |
intron_variant | MODIFIER | c.305-367C>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157556699 | |||||||
| chr2:157556703 | A | C | 5 | a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0110 others(2): Show |
5 | HG00280.hp2 HG00323.hp2 HG00639.hp1 others(2): Show |
intron_variant | MODIFIER | c.305-371T>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157556703 | |||||||
| chr2:157556723 | G | C | 1 | a0001c0002t0001g0101 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.305-391C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157556723 | |||||||
| chr2:157556822 | C | T | 1 | a0001c0002t0018g0061 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.305-490G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157556822 | |||||||
| chr2:157556940 | G | A | 14 | a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0032 others(11): Show |
14 | HG01891.hp1 HG02109.hp2 HG02630.hp2 others(11): Show |
intron_variant | MODIFIER | c.305-608C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157556940 | |||||||
| chr2:157556951 | C | A | 6 | a0001c0002t0001g0101 a0001c0002t0024g0108 a0002c0003t0006g0109 others(3): Show |
6 | HG02145.hp1 HG02486.hp2 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.305-619G>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157556951 | |||||||
| chr2:157557073 | A | G | 3 | a0002c0005t0007g0004 a0002c0005t0007g0005 a0002c0005t0009g0009 |
3 | HG02572.hp2 HG02976.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.305-741T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157557073 | |||||||
| chr2:157557164 | C | CA | 61 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0147 others(58): Show |
62 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(59): Show |
intron_variant | MODIFIER | c.305-833dupT | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157557164 | |||||||
| chr2:157557190 | A | C | 2 | a0001c0002t0004g0125 a0001c0002t0004g0133 |
2 | HG00544.hp1 NA19076.hp1 |
intron_variant | MODIFIER | c.305-858T>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157557190 | |||||||
| chr2:157557390 | G | A | 40 | a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 others(37): Show |
40 | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(37): Show |
intron_variant | MODIFIER | c.305-1058C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157557390 | |||||||
| chr2:157557449 | T | G | 1 | a0002c0003t0002g0006 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.305-1117A>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157557449 | |||||||
| chr2:157557463 | C | G | 1 | a0002c0003t0009g0036 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.305-1131G>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157557463 | |||||||
| chr2:157557528 | C | G | 1 | a0001c0002t0001g0041 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.305-1196G>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157557528 | |||||||
| chr2:157557556 | G | A | 5 | a0001c0002t0024g0108 a0002c0003t0006g0109 a0002c0003t0026g0107 others(2): Show |
5 | HG02145.hp1 HG02486.hp2 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.305-1224C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157557556 | |||||||
| chr2:157557953 | T | C | 3 | a0001c0001t0011g0166 a0001c0001t0011g0167 a0001c0001t0037g0186 |
3 | HG02109.hp1 HG02615.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.305-1621A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157557953 | |||||||
| chr2:157557955 | C | T | 1 | a0001c0001t0001g0200 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.305-1623G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157557955 | |||||||
| chr2:157558026 | G | T | 1 | a0001c0010t0004g0126 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.305-1694C>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157558026 | |||||||
| chr2:157558027 | T | G | 1 | a0001c0010t0004g0126 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.305-1695A>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157558027 | |||||||
| chr2:157558937 | A | G | 1 | a0002c0003t0007g0100 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.305-2605T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157558937 | |||||||
| chr2:157559052 | A | G | 37 | a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 others(34): Show |
37 | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(34): Show |
intron_variant | MODIFIER | c.305-2720T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157559052 | |||||||
| chr2:157559407 | G | C | 5 | a0001c0002t0024g0108 a0002c0003t0006g0109 a0002c0003t0026g0107 others(2): Show |
5 | HG02145.hp1 HG02486.hp2 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.305-3075C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157559407 | |||||||
| chr2:157559428 | T | G | 1 | a0001c0001t0001g0176 | 1 | NA19072.hp2 | intron_variant | MODIFIER | c.305-3096A>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157559428 | |||||||
| chr2:157560079 | T | A | 1 | a0001c0002t0038g0071 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.305-3747A>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157560079 | |||||||
| chr2:157560192 | T | C | 1 | a0001c0002t0004g0138 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.305-3860A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157560192 | |||||||
| chr2:157560442 | G | A | 133 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0005g0213 others(130): Show |
134 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(131): Show |
intron_variant | MODIFIER | c.305-4110C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157560442 | |||||||
| chr2:157560622 | G | A | 1 | a0002c0011t0002g0011 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.305-4290C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157560622 | |||||||
| chr2:157560702 | C | T | 1 | a0001c0010t0004g0126 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.305-4370G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157560702 | |||||||
| chr2:157560851 | C | T | 56 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0005g0213 others(53): Show |
57 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(54): Show |
intron_variant | MODIFIER | c.305-4519G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157560851 | |||||||
| chr2:157561039 | G | T | 13 | a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0032 others(10): Show |
13 | HG01891.hp1 HG02109.hp2 HG02630.hp2 others(10): Show |
intron_variant | MODIFIER | c.305-4707C>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157561039 | |||||||
| chr2:157561046 | G | C | 57 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0005g0213 others(54): Show |
58 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(55): Show |
intron_variant | MODIFIER | c.305-4714C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157561046 | |||||||
| chr2:157561094 | C | T | 1 | a0001c0002t0001g0101 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.305-4762G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157561094 | |||||||
| chr2:157561440 | A | G | 1 | a0001c0001t0030g0086 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.305-5108T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157561440 | |||||||
| chr2:157561711 | G | C | 52 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0005g0213 others(49): Show |
53 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(50): Show |
intron_variant | MODIFIER | c.305-5379C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157561711 | |||||||
| chr2:157561743 | A | G | 1 | a0001c0001t0001g0155 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.305-5411T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157561743 | |||||||
| chr2:157561872 | T | C | 2 | a0002c0003t0007g0100 a0002c0003t0013g0050 |
2 | HG02886.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.305-5540A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157561872 | |||||||
| chr2:157562071 | C | T | 37 | a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 others(34): Show |
37 | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(34): Show |
intron_variant | MODIFIER | c.305-5739G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157562071 | |||||||
| chr2:157562114 | G | A | 1 | a0002c0003t0002g0006 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.305-5782C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157562114 | |||||||
| chr2:157562291 | C | T | 48 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0005g0213 others(45): Show |
49 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(46): Show |
intron_variant | MODIFIER | c.305-5959G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157562291 | |||||||
| chr2:157562293 | CA | C | 37 | a0001c0001t0001g0017 a0001c0002t0001g0041 a0001c0002t0001g0042 others(34): Show |
37 | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(34): Show |
intron_variant | MODIFIER | c.305-5962delT | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157562293 | |||||||
| chr2:157562303 | A | AT | 54 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0005g0213 others(51): Show |
55 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(52): Show |
intron_variant | MODIFIER | c.305-5972_305-5971i others(3): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157562303 | |||||||
| chr2:157562303 | A | T | 7 | a0001c0001t0001g0176 a0001c0001t0003g0058 a0001c0001t0003g0154 others(4): Show |
7 | HG00639.hp2 HG01261.hp1 HG01943.hp1 others(4): Show |
intron_variant | MODIFIER | c.305-5971T>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157562303 | |||||||
| chr2:157562305 | A | AT | 12 | a0001c0002t0003g0090 a0001c0002t0005g0092 a0001c0002t0019g0088 others(9): Show |
12 | HG02145.hp1 HG02486.hp2 HG02602.hp2 others(9): Show |
intron_variant | MODIFIER | c.305-5974_305-5973i others(3): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157562305 | |||||||
| chr2:157562305 | A | T | 139 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 others(136): Show |
140 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(137): Show |
intron_variant | MODIFIER | c.305-5973T>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157562305 | |||||||
| chr2:157562307 | T | A | 2 | a0001c0012t0003g0051 a0002c0013t0010g0052 |
2 | HG02145.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.305-5975A>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157562307 | |||||||
| chr2:157562309 | T | A | 1 | a0001c0002t0001g0137 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.305-5977A>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157562309 | |||||||
| chr2:157562406 | A | G | 1 | a0002c0003t0002g0006 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.305-6074T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157562406 | |||||||
| chr2:157562459 | A | AAAAAT | 17 | a0001c0001t0001g0147 a0001c0001t0001g0194 a0001c0002t0001g0027 others(14): Show |
17 | HG01255.hp2 HG01891.hp1 HG02080.hp2 others(14): Show |
intron_variant | MODIFIER | c.305-6132_305-6128d others(7): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157562459 | |||||||
| chr2:157562459 | A | AAAAATAA others(3): Show |
2 | a0002c0003t0009g0036 a0002c0003t0017g0215 |
2 | HG02717.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.305-6137_305-6128d others(12): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157562459 | |||||||
| chr2:157562459 | AAAAAT | A | 132 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 others(129): Show |
133 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(130): Show |
intron_variant | MODIFIER | c.305-6132_305-6128d others(7): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157562459 | |||||||
| chr2:157562459 | AAAAATAA others(3): Show |
A | 6 | a0001c0001t0001g0155 a0001c0001t0001g0210 a0001c0002t0001g0101 others(3): Show |
6 | HG01884.hp1 HG02145.hp1 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.305-6137_305-6128d others(12): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157562459 | |||||||
| chr2:157562459 | AAAAATAA others(8): Show |
A | 7 | a0001c0001t0001g0017 a0001c0002t0003g0059 a0001c0002t0003g0062 others(4): Show |
7 | HG00099.hp1 HG02280.hp2 HG02647.hp1 others(4): Show |
intron_variant | MODIFIER | c.305-6142_305-6128d others(17): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157562459 | |||||||
| chr2:157562748 | G | A | 2 | a0001c0002t0001g0127 a0001c0002t0001g0128 |
2 | NA18974.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.305-6416C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157562748 | |||||||
| chr2:157562871 | CAT | C | 52 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0005g0213 others(49): Show |
53 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(50): Show |
intron_variant | MODIFIER | c.305-6541_305-6540d others(4): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157562871 | |||||||
| chr2:157562889 | A | T | 136 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 others(133): Show |
137 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(134): Show |
intron_variant | MODIFIER | c.305-6557T>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157562889 | |||||||
| chr2:157563025 | C | G | 3 | a0001c0002t0001g0208 a0001c0002t0004g0135 a0001c0010t0004g0126 |
3 | HG00558.hp2 NA18949.hp1 NA19002.hp1 |
intron_variant | MODIFIER | c.305-6693G>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157563025 | |||||||
| chr2:157563029 | A | T | 8 | a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 others(5): Show |
8 | HG01106.hp2 HG01943.hp1 HG01975.hp2 others(5): Show |
intron_variant | MODIFIER | c.305-6697T>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157563029 | |||||||
| chr2:157563053 | C | G | 1 | a0002c0003t0002g0060 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.305-6721G>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157563053 | |||||||
| chr2:157563178 | T | C | 112 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0005g0213 others(109): Show |
113 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(110): Show |
intron_variant | MODIFIER | c.305-6846A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157563178 | |||||||
| chr2:157563456 | A | T | 128 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0005g0213 others(125): Show |
129 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(126): Show |
intron_variant | MODIFIER | c.305-7124T>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157563456 | |||||||
| chr2:157563937 | C | T | 1 | a0001c0002t0001g0027 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.305-7605G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157563937 | |||||||
| chr2:157564325 | T | C | 3 | a0001c0002t0016g0037 a0001c0002t0016g0038 a0002c0003t0009g0036 |
3 | HG02622.hp2 HG02809.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.305-7993A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157564325 | |||||||
| chr2:157564741 | G | C | 3 | a0001c0002t0005g0033 a0002c0003t0002g0006 a0002c0003t0002g0057 |
3 | HG01261.hp1 HG02965.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.305-8409C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157564741 | |||||||
| chr2:157564793 | A | G | 2 | a0001c0002t0001g0101 a0002c0003t0013g0050 |
2 | HG02886.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.305-8461T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157564793 | |||||||
| chr2:157564794 | T | C | 2 | a0001c0002t0014g0049 a0001c0002t0028g0048 |
2 | HG02280.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.305-8462A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157564794 | |||||||
| chr2:157564844 | C | T | 16 | a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0032 others(13): Show |
16 | HG01891.hp1 HG02109.hp2 HG02622.hp2 others(13): Show |
intron_variant | MODIFIER | c.305-8512G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157564844 | |||||||
| chr2:157565100 | T | C | 1 | a0001c0002t0001g0101 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.305-8768A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157565100 | |||||||
| chr2:157565136 | T | TA | 13 | a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0032 others(10): Show |
13 | HG01891.hp1 HG02109.hp2 HG02630.hp2 others(10): Show |
intron_variant | MODIFIER | c.305-8805dupT | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157565136 | |||||||
| chr2:157565272 | C | T | 5 | a0001c0002t0024g0108 a0002c0003t0006g0109 a0002c0003t0026g0107 others(2): Show |
5 | HG02145.hp1 HG02486.hp2 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.305-8940G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157565272 | |||||||
| chr2:157565289 | A | G | 4 | a0001c0001t0004g0171 a0001c0001t0004g0173 a0002c0004t0002g0093 others(1): Show |
4 | HG02886.hp1 HG02965.hp1 NA18971.hp2 others(1): Show |
intron_variant | MODIFIER | c.305-8957T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157565289 | |||||||
| chr2:157565397 | C | T | 1 | a0001c0002t0001g0101 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.305-9065G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157565397 | |||||||
| chr2:157565403 | G | A | 1 | a0001c0002t0016g0038 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.305-9071C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157565403 | |||||||
| chr2:157565624 | A | G | 1 | a0002c0003t0007g0076 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.305-9292T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157565624 | |||||||
| chr2:157565704 | A | G | 5 | a0001c0002t0024g0108 a0002c0003t0006g0109 a0002c0003t0026g0107 others(2): Show |
5 | HG02145.hp1 HG02486.hp2 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.305-9372T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157565704 | |||||||
| chr2:157565922 | G | C | 3 | a0001c0002t0016g0037 a0001c0002t0016g0038 a0002c0003t0009g0036 |
3 | HG02622.hp2 HG02809.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.305-9590C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157565922 | |||||||
| chr2:157566440 | T | A | 1 | a0002c0003t0006g0103 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.305-10108A>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157566440 | |||||||
| chr2:157566466 | C | T | 1 | a0001c0001t0005g0213 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.305-10134G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157566466 | |||||||
| chr2:157566489 | G | A | 1 | a0002c0003t0013g0050 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.305-10157C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157566489 | |||||||
| chr2:157566509 | G | A | 1 | a0002c0003t0021g0099 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.305-10177C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157566509 | |||||||
| chr2:157566554 | A | G | 113 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0005g0213 others(110): Show |
114 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(111): Show |
intron_variant | MODIFIER | c.305-10222T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157566554 | |||||||
| chr2:157566617 | C | T | 1 | a0001c0001t0001g0002 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.305-10285G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157566617 | |||||||
| chr2:157566669 | G | A | 57 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0005g0213 others(54): Show |
58 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(55): Show |
intron_variant | MODIFIER | c.305-10337C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157566669 | |||||||
| chr2:157566725 | C | T | 2 | a0001c0002t0001g0118 a0001c0002t0001g0132 |
2 | HG02080.hp1 NA19064.hp1 |
intron_variant | MODIFIER | c.305-10393G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157566725 | |||||||
| chr2:157566751 | G | A | 5 | a0001c0002t0024g0108 a0002c0003t0006g0109 a0002c0003t0026g0107 others(2): Show |
5 | HG02145.hp1 HG02486.hp2 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.305-10419C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157566751 | |||||||
| chr2:157567218 | A | G | 1 | a0001c0001t0003g0172 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.305-10886T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157567218 | |||||||
| chr2:157567259 | T | A | 112 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0005g0213 others(109): Show |
113 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(110): Show |
intron_variant | MODIFIER | c.305-10927A>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157567259 | |||||||
| chr2:157567302 | C | A | 130 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0005g0213 others(127): Show |
131 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(128): Show |
intron_variant | MODIFIER | c.305-10970G>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157567302 | |||||||
| chr2:157567379 | G | A | 5 | a0001c0002t0024g0108 a0002c0003t0006g0109 a0002c0003t0026g0107 others(2): Show |
5 | HG02145.hp1 HG02486.hp2 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.305-11047C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157567379 | |||||||
| chr2:157567403 | T | C | 114 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0005g0213 others(111): Show |
115 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(112): Show |
intron_variant | MODIFIER | c.305-11071A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157567403 | |||||||
| chr2:157567480 | A | G | 3 | a0001c0002t0016g0037 a0001c0002t0016g0038 a0002c0003t0009g0036 |
3 | HG02622.hp2 HG02809.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.305-11148T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157567480 | |||||||
| chr2:157567550 | C | T | 3 | a0001c0001t0001g0145 a0001c0002t0001g0112 a0001c0002t0001g0117 |
3 | HG00609.hp1 HG01106.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.305-11218G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157567550 | |||||||
| chr2:157567551 | G | A | 1 | a0002c0003t0013g0050 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.305-11219C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157567551 | |||||||
| chr2:157567592 | G | A | 61 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0005g0213 others(58): Show |
62 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(59): Show |
intron_variant | MODIFIER | c.305-11260C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157567592 | |||||||
| chr2:157567604 | G | T | 11 | a0001c0012t0003g0051 a0002c0003t0002g0010 a0002c0003t0005g0008 others(8): Show |
11 | HG02145.hp2 HG02630.hp1 HG02647.hp2 others(8): Show |
intron_variant | MODIFIER | c.305-11272C>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157567604 | |||||||
| chr2:157567618 | A | G | 3 | a0001c0002t0003g0062 a0003c0006t0005g0168 a0003c0006t0005g0187 |
3 | HG00099.hp1 HG01515.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.305-11286T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157567618 | |||||||
| chr2:157567718 | A | G | 1 | a0001c0002t0001g0101 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.305-11386T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157567718 | |||||||
| chr2:157567733 | C | T | 1 | a0002c0003t0002g0029 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.305-11401G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157567733 | |||||||
| chr2:157567821 | A | G | 2 | a0001c0002t0014g0049 a0001c0002t0028g0048 |
2 | HG02280.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.305-11489T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157567821 | |||||||
| chr2:157567840 | C | T | 2 | a0001c0001t0001g0019 a0001c0001t0001g0020 |
2 | HG03098.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.305-11508G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157567840 | |||||||
| chr2:157567866 | C | T | 38 | a0001c0001t0035g0142 a0001c0002t0001g0041 a0001c0002t0001g0042 others(35): Show |
38 | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(35): Show |
intron_variant | MODIFIER | c.305-11534G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157567866 | |||||||
| chr2:157568010 | C | T | 13 | a0001c0002t0014g0049 a0001c0002t0028g0048 a0001c0012t0003g0051 others(10): Show |
13 | HG02145.hp2 HG02280.hp2 HG02630.hp1 others(10): Show |
intron_variant | MODIFIER | c.305-11678G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157568010 | |||||||
| chr2:157568019 | C | T | 3 | a0002c0003t0007g0100 a0002c0003t0017g0214 a0002c0003t0017g0215 |
3 | HG02615.hp1 HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.305-11687G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157568019 | |||||||
| chr2:157568179 | C | G | 1 | a0002c0003t0002g0006 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.305-11847G>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157568179 | |||||||
| chr2:157568213 | G | A | 70 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0005g0213 others(67): Show |
71 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(68): Show |
intron_variant | MODIFIER | c.305-11881C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157568213 | |||||||
| chr2:157568245 | C | T | 1 | a0001c0002t0001g0116 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.305-11913G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157568245 | |||||||
| chr2:157568278 | T | C | 1 | a0002c0004t0010g0191 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.305-11946A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157568278 | |||||||
| chr2:157568464 | C | T | 1 | a0001c0001t0001g0176 | 1 | NA19072.hp2 | intron_variant | MODIFIER | c.305-12132G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157568464 | |||||||
| chr2:157568474 | A | G | 57 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0005g0213 others(54): Show |
58 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(55): Show |
intron_variant | MODIFIER | c.305-12142T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157568474 | |||||||
| chr2:157568547 | G | A | 1 | a0001c0002t0001g0027 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.305-12215C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157568547 | |||||||
| chr2:157568741 | A | G | 1 | a0001c0001t0037g0186 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.305-12409T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157568741 | |||||||
| chr2:157568761 | T | C | 1 | a0001c0002t0001g0084 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.305-12429A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157568761 | |||||||
| chr2:157568837 | G | T | 1 | a0001c0012t0003g0051 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.305-12505C>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157568837 | |||||||
| chr2:157568944 | T | C | 2 | a0002c0003t0002g0006 a0002c0003t0002g0057 |
2 | HG01261.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.305-12612A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157568944 | |||||||
| chr2:157569043 | T | C | 1 | a0001c0002t0001g0101 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.305-12711A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157569043 | |||||||
| chr2:157569081 | T | C | 38 | a0001c0001t0035g0142 a0001c0002t0001g0041 a0001c0002t0001g0042 others(35): Show |
38 | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(35): Show |
intron_variant | MODIFIER | c.305-12749A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157569081 | |||||||
| chr2:157569125 | C | T | 3 | a0002c0005t0007g0004 a0002c0005t0007g0005 a0002c0005t0009g0009 |
3 | HG02572.hp2 HG02976.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.305-12793G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157569125 | |||||||
| chr2:157569211 | C | G | 4 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0151 others(1): Show |
4 | HG00280.hp1 HG01169.hp1 HG01256.hp1 others(1): Show |
intron_variant | MODIFIER | c.305-12879G>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157569211 | |||||||
| chr2:157569328 | G | C | 1 | a0002c0003t0002g0006 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.305-12996C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157569328 | |||||||
| chr2:157569342 | A | G | 3 | a0001c0001t0001g0147 a0001c0001t0001g0194 a0001c0001t0033g0195 |
3 | HG02080.hp2 NA18612.hp2 NA19062.hp1 |
intron_variant | MODIFIER | c.305-13010T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157569342 | |||||||
| chr2:157569498 | C | G | 1 | a0001c0002t0001g0110 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.305-13166G>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157569498 | |||||||
| chr2:157569768 | G | A | 5 | a0001c0002t0024g0108 a0002c0003t0006g0109 a0002c0003t0026g0107 others(2): Show |
5 | HG02145.hp1 HG02486.hp2 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.305-13436C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157569768 | |||||||
| chr2:157569774 | C | T | 58 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0005g0213 others(55): Show |
59 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(56): Show |
intron_variant | MODIFIER | c.305-13442G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157569774 | |||||||
| chr2:157569785 | C | T | 1 | a0002c0003t0002g0057 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.305-13453G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157569785 | |||||||
| chr2:157569829 | T | C | 3 | a0002c0005t0007g0004 a0002c0005t0007g0005 a0002c0005t0009g0009 |
3 | HG02572.hp2 HG02976.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.305-13497A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157569829 | |||||||
| chr2:157569878 | T | C | 1 | a0002c0003t0002g0060 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.305-13546A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157569878 | |||||||
| chr2:157569893 | G | T | 1 | a0001c0002t0001g0116 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.305-13561C>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157569893 | |||||||
| chr2:157569981 | C | T | 4 | a0001c0002t0024g0108 a0002c0003t0006g0109 a0002c0008t0002g0106 others(1): Show |
4 | HG02145.hp1 HG02486.hp2 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.305-13649G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157569981 | |||||||
| chr2:157570063 | G | A | 1 | a0001c0002t0001g0101 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.305-13731C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157570063 | |||||||
| chr2:157570131 | G | A | 18 | a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0032 others(15): Show |
18 | HG01891.hp1 HG02109.hp2 HG02622.hp2 others(15): Show |
intron_variant | MODIFIER | c.305-13799C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157570131 | |||||||
| chr2:157570145 | C | T | 1 | a0001c0001t0001g0202 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.305-13813G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157570145 | |||||||
| chr2:157570149 | G | A | 53 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0005g0213 others(50): Show |
54 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(51): Show |
intron_variant | MODIFIER | c.305-13817C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157570149 | |||||||
| chr2:157570167 | T | G | 1 | a0002c0003t0013g0050 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.305-13835A>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157570167 | |||||||
| chr2:157570268 | G | C | 3 | a0001c0002t0016g0037 a0001c0002t0016g0038 a0002c0003t0009g0036 |
3 | HG02622.hp2 HG02809.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.305-13936C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157570268 | |||||||
| chr2:157570328 | G | A | 2 | a0002c0004t0002g0093 a0002c0004t0002g0094 |
2 | HG02886.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.305-13996C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157570328 | |||||||
| chr2:157570362 | A | T | 1 | a0002c0003t0013g0050 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.305-14030T>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157570362 | |||||||
| chr2:157570429 | C | T | 115 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0005g0213 others(112): Show |
116 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(113): Show |
intron_variant | MODIFIER | c.305-14097G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157570429 | |||||||
| chr2:157570469 | C | T | 9 | a0001c0001t0035g0142 a0002c0003t0005g0008 a0002c0003t0005g0095 others(6): Show |
9 | HG02572.hp2 HG02630.hp1 HG02976.hp1 others(6): Show |
intron_variant | MODIFIER | c.305-14137G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157570469 | |||||||
| chr2:157570472 | C | G | 8 | a0002c0003t0005g0008 a0002c0003t0005g0095 a0002c0003t0005g0096 others(5): Show |
8 | HG02572.hp2 HG02630.hp1 HG02976.hp1 others(5): Show |
intron_variant | MODIFIER | c.305-14140G>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157570472 | |||||||
| chr2:157570556 | C | A | 1 | a0001c0002t0001g0137 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.305-14224G>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157570556 | |||||||
| chr2:157570599 | A | G | 54 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0005g0213 others(51): Show |
55 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(52): Show |
intron_variant | MODIFIER | c.305-14267T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157570599 | |||||||
| chr2:157570625 | G | C | 53 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0005g0213 others(50): Show |
54 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(51): Show |
intron_variant | MODIFIER | c.305-14293C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157570625 | |||||||
| chr2:157570694 | A | G | 1 | a0002c0003t0013g0050 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.305-14362T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157570694 | |||||||
| chr2:157570743 | C | T | 58 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0005g0213 others(55): Show |
59 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(56): Show |
intron_variant | MODIFIER | c.305-14411G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157570743 | |||||||
| chr2:157570770 | G | A | 1 | a0001c0002t0003g0134 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.305-14438C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157570770 | |||||||
| chr2:157570836 | C | A | 6 | a0001c0002t0024g0108 a0002c0003t0002g0029 a0002c0003t0006g0109 others(3): Show |
6 | HG02145.hp1 HG02486.hp2 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.305-14504G>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157570836 | |||||||
| chr2:157570901 | C | T | 1 | a0001c0001t0012g0193 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.305-14569G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157570901 | |||||||
| chr2:157570927 | A | C | 1 | a0001c0002t0001g0101 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.305-14595T>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157570927 | |||||||
| chr2:157571061 | C | G | 1 | a0001c0001t0001g0176 | 1 | NA19072.hp2 | intron_variant | MODIFIER | c.305-14729G>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157571061 | |||||||
| chr2:157571277 | G | A | 2 | a0001c0002t0014g0049 a0001c0002t0028g0048 |
2 | HG02280.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.305-14945C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157571277 | |||||||
| chr2:157571289 | G | C | 2 | a0001c0002t0014g0049 a0001c0002t0028g0048 |
2 | HG02280.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.305-14957C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157571289 | |||||||
| chr2:157571350 | A | C | 59 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0005g0213 others(56): Show |
60 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(57): Show |
intron_variant | MODIFIER | c.305-15018T>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157571350 | |||||||
| chr2:157571365 | G | A | 9 | a0002c0003t0002g0010 a0002c0003t0005g0008 a0002c0003t0005g0095 others(6): Show |
9 | HG02630.hp1 HG02647.hp2 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.305-15033C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157571365 | |||||||
| chr2:157571552 | G | A | 1 | a0001c0002t0015g0141 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.305-15220C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157571552 | |||||||
| chr2:157571607 | A | G | 5 | a0001c0002t0024g0108 a0002c0003t0006g0109 a0002c0003t0026g0107 others(2): Show |
5 | HG02145.hp1 HG02486.hp2 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.305-15275T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157571607 | |||||||
| chr2:157571644 | T | G | 1 | a0002c0003t0009g0036 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.305-15312A>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157571644 | |||||||
| chr2:157571775 | C | A | 5 | a0002c0003t0002g0006 a0002c0003t0002g0046 a0002c0003t0002g0047 others(2): Show |
5 | HG01261.hp1 HG01361.hp2 HG01433.hp1 others(2): Show |
intron_variant | MODIFIER | c.304+15412G>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157571775 | |||||||
| chr2:157571861 | A | T | 1 | a0002c0004t0002g0149 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.304+15326T>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157571861 | |||||||
| chr2:157571879 | G | T | 65 | a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0032 others(62): Show |
65 | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(62): Show |
intron_variant | MODIFIER | c.304+15308C>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157571879 | |||||||
| chr2:157571964 | C | T | 1 | a0002c0003t0013g0050 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.304+15223G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157571964 | |||||||
| chr2:157572163 | C | T | 53 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0005g0213 others(50): Show |
54 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(51): Show |
intron_variant | MODIFIER | c.304+15024G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157572163 | |||||||
| chr2:157572222 | C | G | 1 | a0001c0002t0001g0101 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.304+14965G>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157572222 | |||||||
| chr2:157572229 | G | T | 2 | a0001c0002t0016g0037 a0001c0002t0016g0038 |
2 | HG02622.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.304+14958C>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157572229 | |||||||
| chr2:157572245 | T | C | 1 | a0002c0003t0002g0006 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.304+14942A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157572245 | |||||||
| chr2:157572364 | A | G | 2 | a0001c0012t0003g0051 a0002c0013t0010g0052 |
2 | HG02145.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.304+14823T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157572364 | |||||||
| chr2:157572366 | T | TA | 48 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0005g0213 others(45): Show |
49 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(46): Show |
intron_variant | MODIFIER | c.304+14820dupT | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157572366 | |||||||
| chr2:157572378 | T | A | 2 | a0001c0002t0003g0059 a0001c0002t0003g0062 |
2 | HG00099.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.304+14809A>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157572378 | |||||||
| chr2:157572379 | T | A | 3 | a0002c0003t0007g0100 a0002c0003t0017g0214 a0002c0003t0017g0215 |
3 | HG02615.hp1 HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.304+14808A>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157572379 | |||||||
| chr2:157572379 | TA | T | 42 | a0001c0001t0001g0143 a0001c0001t0001g0202 a0001c0002t0001g0041 others(39): Show |
42 | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(39): Show |
intron_variant | MODIFIER | c.304+14807delT | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157572379 | |||||||
| chr2:157572380 | A | T | 2 | a0001c0002t0003g0062 a0002c0003t0006g0109 |
2 | HG00099.hp1 HG02145.hp1 |
intron_variant | MODIFIER | c.304+14807T>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157572380 | |||||||
| chr2:157572381 | A | T | 1 | a0001c0002t0003g0059 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.304+14806T>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157572381 | |||||||
| chr2:157572404 | G | A | 1 | a0002c0003t0013g0050 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.304+14783C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157572404 | |||||||
| chr2:157572655 | A | G | 2 | a0002c0003t0002g0034 a0002c0003t0002g0035 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.304+14532T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157572655 | |||||||
| chr2:157572956 | C | T | 2 | a0001c0002t0001g0027 a0001c0002t0003g0021 |
2 | HG02683.hp2 NA18998.hp1 |
intron_variant | MODIFIER | c.304+14231G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157572956 | |||||||
| chr2:157572972 | G | C | 37 | a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 others(34): Show |
37 | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(34): Show |
intron_variant | MODIFIER | c.304+14215C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157572972 | |||||||
| chr2:157573009 | A | T | 1 | a0001c0002t0004g0135 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.304+14178T>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157573009 | |||||||
| chr2:157573045 | C | A | 1 | a0002c0004t0006g0161 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.304+14142G>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157573045 | |||||||
| chr2:157573301 | A | G | 5 | a0001c0002t0024g0108 a0002c0003t0006g0109 a0002c0003t0026g0107 others(2): Show |
5 | HG02145.hp1 HG02486.hp2 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.304+13886T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157573301 | |||||||
| chr2:157573573 | C | T | 1 | a0001c0002t0018g0061 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.304+13614G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157573573 | |||||||
| chr2:157573596 | C | T | 1 | a0002c0003t0006g0109 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.304+13591G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157573596 | |||||||
| chr2:157573752 | G | A | 1 | a0001c0001t0003g0164 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.304+13435C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157573752 | |||||||
| chr2:157573810 | C | A | 37 | a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 others(34): Show |
37 | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(34): Show |
intron_variant | MODIFIER | c.304+13377G>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157573810 | |||||||
| chr2:157573978 | G | A | 1 | a0001c0002t0001g0065 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.304+13209C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157573978 | |||||||
| chr2:157574010 | A | G | 3 | a0001c0001t0003g0172 a0001c0001t0003g0180 a0001c0001t0030g0086 |
3 | HG01261.hp2 HG02683.hp1 HG02738.hp2 |
intron_variant | MODIFIER | c.304+13177T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157574010 | |||||||
| chr2:157574088 | T | C | 1 | a0002c0003t0021g0099 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.304+13099A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157574088 | |||||||
| chr2:157574114 | G | T | 11 | a0001c0012t0003g0051 a0002c0003t0002g0010 a0002c0003t0005g0008 others(8): Show |
11 | HG02145.hp2 HG02630.hp1 HG02647.hp2 others(8): Show |
intron_variant | MODIFIER | c.304+13073C>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157574114 | |||||||
| chr2:157574238 | A | G | 2 | a0002c0003t0002g0034 a0002c0003t0002g0035 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.304+12949T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157574238 | |||||||
| chr2:157574304 | C | G | 1 | a0001c0002t0001g0137 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.304+12883G>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157574304 | |||||||
| chr2:157574382 | G | T | 1 | a0001c0001t0003g0164 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.304+12805C>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157574382 | |||||||
| chr2:157574655 | C | A | 53 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0005g0213 others(50): Show |
54 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(51): Show |
intron_variant | MODIFIER | c.304+12532G>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157574655 | |||||||
| chr2:157574665 | T | G | 1 | a0001c0002t0001g0091 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.304+12522A>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157574665 | |||||||
| chr2:157574776 | G | T | 18 | a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0032 others(15): Show |
18 | HG01891.hp1 HG02109.hp2 HG02622.hp2 others(15): Show |
intron_variant | MODIFIER | c.304+12411C>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157574776 | |||||||
| chr2:157574963 | T | C | 1 | a0002c0003t0002g0057 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.304+12224A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157574963 | |||||||
| chr2:157575123 | G | A | 1 | a0001c0002t0001g0101 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.304+12064C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157575123 | |||||||
| chr2:157575131 | C | CT | 62 | a0001c0001t0035g0142 a0001c0002t0001g0027 a0001c0002t0001g0030 others(59): Show |
62 | HG00544.hp1 HG00558.hp2 HG00609.hp1 others(59): Show |
intron_variant | MODIFIER | c.304+12055dupA | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157575131 | |||||||
| chr2:157575151 | G | A | 1 | a0002c0003t0002g0024 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.304+12036C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157575151 | |||||||
| chr2:157575200 | C | G | 1 | a0001c0001t0001g0189 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.304+11987G>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157575200 | |||||||
| chr2:157575214 | C | T | 1 | a0001c0002t0001g0101 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.304+11973G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157575214 | |||||||
| chr2:157575231 | C | CG | 53 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0005g0213 others(50): Show |
54 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(51): Show |
intron_variant | MODIFIER | c.304+11955dupC | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157575231 | |||||||
| chr2:157575238 | C | T | 2 | a0002c0004t0002g0093 a0002c0004t0002g0094 |
2 | HG02886.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.304+11949G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157575238 | |||||||
| chr2:157575314 | G | A | 1 | a0002c0003t0002g0044 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.304+11873C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157575314 | |||||||
| chr2:157575475 | C | G | 2 | a0002c0003t0006g0102 a0002c0003t0006g0103 |
2 | HG02055.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.304+11712G>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157575475 | |||||||
| chr2:157575768 | A | G | 53 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0005g0213 others(50): Show |
54 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(51): Show |
intron_variant | MODIFIER | c.304+11419T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157575768 | |||||||
| chr2:157575934 | A | C | 53 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0005g0213 others(50): Show |
54 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(51): Show |
intron_variant | MODIFIER | c.304+11253T>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157575934 | |||||||
| chr2:157576203 | C | CT | 6 | a0001c0001t0001g0160 a0001c0001t0001g0202 a0001c0001t0003g0180 others(3): Show |
6 | HG01978.hp2 HG02071.hp1 HG02109.hp1 others(3): Show |
intron_variant | MODIFIER | c.304+10983dupA | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157576203 | |||||||
| chr2:157576203 | C | CTTT | 38 | a0001c0001t0035g0142 a0001c0002t0001g0041 a0001c0002t0001g0042 others(35): Show |
38 | HG00544.hp1 HG00558.hp2 HG01192.hp2 others(35): Show |
intron_variant | MODIFIER | c.304+10981_304+1098 others(7): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157576203 | |||||||
| chr2:157576203 | C | CTTTT | 70 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0005g0213 others(67): Show |
71 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(68): Show |
intron_variant | MODIFIER | c.304+10980_304+1098 others(8): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157576203 | |||||||
| chr2:157576203 | C | CTTTTT | 6 | a0001c0002t0001g0063 a0001c0002t0001g0074 a0001c0002t0001g0084 others(3): Show |
6 | HG01106.hp1 HG01243.hp1 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.304+10979_304+1098 others(9): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157576203 | |||||||
| chr2:157576229 | C | T | 37 | a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 others(34): Show |
37 | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(34): Show |
intron_variant | MODIFIER | c.304+10958G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157576229 | |||||||
| chr2:157576299 | G | A | 38 | a0001c0001t0035g0142 a0001c0002t0001g0041 a0001c0002t0001g0042 others(35): Show |
38 | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(35): Show |
intron_variant | MODIFIER | c.304+10888C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157576299 | |||||||
| chr2:157576783 | C | T | 15 | a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0032 others(12): Show |
15 | HG01891.hp1 HG02109.hp2 HG02630.hp2 others(12): Show |
intron_variant | MODIFIER | c.304+10404G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157576783 | |||||||
| chr2:157576823 | C | T | 1 | a0002c0003t0002g0057 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.304+10364G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157576823 | |||||||
| chr2:157576825 | TTGAAATT others(322): Show |
T | 116 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0005g0213 others(113): Show |
117 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(114): Show |
intron_variant | MODIFIER | c.304+10033_304+1036 others(4): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157576825 | |||||||
| chr2:157576835 | C | CT | 20 | a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0019 others(17): Show |
20 | HG00323.hp1 HG00642.hp1 HG01256.hp1 others(17): Show |
intron_variant | MODIFIER | c.304+10351dupA | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157576835 | |||||||
| chr2:157576835 | C | CTTTTTTT others(4): Show |
1 | a0002c0003t0002g0006 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.304+10341_304+1035 others(15): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157576835 | |||||||
| chr2:157576835 | C | CTTTTTTT others(17): Show |
1 | a0002c0004t0010g0191 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.304+10328_304+1035 others(28): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157576835 | |||||||
| chr2:157576835 | CT | C | 10 | a0001c0012t0003g0051 a0002c0003t0002g0010 a0002c0003t0005g0008 others(7): Show |
10 | HG02145.hp2 HG02630.hp1 HG02647.hp2 others(7): Show |
intron_variant | MODIFIER | c.304+10351delA | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157576835 | |||||||
| chr2:157576895 | C | T | 2 | a0002c0004t0002g0093 a0002c0004t0002g0094 |
2 | HG02886.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.304+10292G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157576895 | |||||||
| chr2:157577169 | T | C | 5 | a0001c0002t0024g0108 a0002c0003t0006g0109 a0002c0003t0026g0107 others(2): Show |
5 | HG02145.hp1 HG02486.hp2 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.304+10018A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157577169 | |||||||
| chr2:157577187 | G | C | 1 | a0002c0003t0005g0097 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.304+10000C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157577187 | |||||||
| chr2:157577233 | C | T | 1 | a0002c0003t0013g0050 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.304+9954G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157577233 | |||||||
| chr2:157577314 | A | T | 1 | a0001c0002t0001g0045 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.304+9873T>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157577314 | |||||||
| chr2:157577328 | T | C | 1 | a0002c0003t0006g0089 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.304+9859A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157577328 | |||||||
| chr2:157577377 | G | A | 1 | a0002c0003t0002g0057 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.304+9810C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157577377 | |||||||
| chr2:157577400 | T | C | 2 | a0001c0001t0001g0178 a0001c0001t0001g0188 |
2 | HG00741.hp2 HG01074.hp1 |
intron_variant | MODIFIER | c.304+9787A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157577400 | |||||||
| chr2:157577704 | T | C | 2 | a0001c0001t0003g0058 a0001c0001t0003g0154 |
2 | HG00639.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.304+9483A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157577704 | |||||||
| chr2:157577775 | T | C | 2 | a0001c0001t0012g0192 a0001c0001t0012g0193 |
2 | HG02280.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.304+9412A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157577775 | |||||||
| chr2:157577919 | C | T | 54 | a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0063 others(51): Show |
55 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(52): Show |
intron_variant | MODIFIER | c.304+9268G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157577919 | |||||||
| chr2:157578042 | G | A | 4 | a0001c0002t0001g0084 a0002c0003t0007g0100 a0002c0003t0017g0214 others(1): Show |
4 | HG02486.hp1 HG02615.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.304+9145C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157578042 | |||||||
| chr2:157578057 | C | T | 55 | a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0032 others(52): Show |
55 | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(52): Show |
intron_variant | MODIFIER | c.304+9130G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157578057 | |||||||
| chr2:157578058 | G | A | 1 | a0001c0001t0005g0165 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.304+9129C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157578058 | |||||||
| chr2:157578116 | G | A | 1 | a0001c0001t0005g0165 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.304+9071C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157578116 | |||||||
| chr2:157578179 | G | A | 1 | a0001c0001t0001g0178 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.304+9008C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157578179 | |||||||
| chr2:157578864 | G | T | 5 | a0001c0002t0024g0108 a0002c0003t0006g0109 a0002c0003t0026g0107 others(2): Show |
5 | HG02145.hp1 HG02486.hp2 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.304+8323C>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157578864 | |||||||
| chr2:157579150 | G | C | 1 | a0001c0002t0001g0101 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.304+8037C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157579150 | |||||||
| chr2:157579245 | G | A | 5 | a0002c0003t0005g0008 a0002c0003t0005g0095 a0002c0003t0005g0096 others(2): Show |
5 | HG02630.hp1 HG03041.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.304+7942C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157579245 | |||||||
| chr2:157579751 | G | C | 1 | a0001c0002t0004g0136 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.304+7436C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157579751 | |||||||
| chr2:157580096 | C | T | 2 | a0001c0002t0014g0049 a0001c0002t0028g0048 |
2 | HG02280.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.304+7091G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157580096 | |||||||
| chr2:157580255 | A | G | 1 | a0001c0002t0001g0112 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.304+6932T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157580255 | |||||||
| chr2:157581171 | T | C | 115 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0207 others(112): Show |
116 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(113): Show |
intron_variant | MODIFIER | c.304+6016A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157581171 | |||||||
| chr2:157581267 | T | A | 1 | a0001c0002t0001g0063 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.304+5920A>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157581267 | |||||||
| chr2:157581472 | C | A | 1 | a0002c0003t0006g0109 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.304+5715G>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157581472 | |||||||
| chr2:157581864 | A | C | 2 | a0001c0002t0001g0127 a0001c0002t0001g0128 |
2 | NA18974.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.304+5323T>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157581864 | |||||||
| chr2:157581979 | T | A | 1 | a0002c0003t0005g0097 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.304+5208A>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157581979 | |||||||
| chr2:157581987 | T | G | 1 | a0002c0003t0002g0022 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.304+5200A>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157581987 | |||||||
| chr2:157582163 | T | A | 2 | a0001c0002t0014g0049 a0001c0002t0028g0048 |
2 | HG02280.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.304+5024A>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157582163 | |||||||
| chr2:157582240 | G | A | 1 | a0001c0002t0004g0135 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.304+4947C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157582240 | |||||||
| chr2:157582292 | T | C | 3 | a0002c0003t0007g0100 a0002c0003t0017g0214 a0002c0003t0017g0215 |
3 | HG02615.hp1 HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.304+4895A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157582292 | |||||||
| chr2:157582300 | T | A | 1 | a0002c0003t0002g0057 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.304+4887A>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157582300 | |||||||
| chr2:157582319 | A | T | 5 | a0002c0003t0006g0077 a0002c0003t0006g0102 a0002c0003t0006g0103 others(2): Show |
5 | HG02055.hp1 HG02572.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.304+4868T>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157582319 | |||||||
| chr2:157582344 | G | A | 127 | a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0032 others(124): Show |
128 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(125): Show |
intron_variant | MODIFIER | c.304+4843C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157582344 | |||||||
| chr2:157582729 | G | A | 2 | a0001c0002t0004g0135 a0001c0010t0004g0126 |
2 | HG00558.hp2 NA18949.hp1 |
intron_variant | MODIFIER | c.304+4458C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157582729 | |||||||
| chr2:157582811 | T | C | 18 | a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0032 others(15): Show |
18 | HG01891.hp1 HG02109.hp2 HG02622.hp2 others(15): Show |
intron_variant | MODIFIER | c.304+4376A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157582811 | |||||||
| chr2:157583230 | A | G | 1 | a0001c0002t0001g0101 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.304+3957T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157583230 | |||||||
| chr2:157583663 | G | A | 3 | a0001c0001t0001g0147 a0001c0001t0001g0194 a0001c0001t0033g0195 |
3 | HG02080.hp2 NA18612.hp2 NA19062.hp1 |
intron_variant | MODIFIER | c.304+3524C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157583663 | |||||||
| chr2:157583790 | TAGA | T | 8 | a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0110 others(5): Show |
8 | HG00280.hp2 HG00323.hp2 HG00639.hp1 others(5): Show |
intron_variant | MODIFIER | c.304+3394_304+3396d others(5): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157583790 | |||||||
| chr2:157583971 | G | A | 1 | a0002c0003t0013g0050 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.304+3216C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157583971 | |||||||
| chr2:157583993 | T | C | 3 | a0001c0002t0001g0075 a0001c0012t0003g0051 a0002c0013t0010g0052 |
3 | HG02145.hp2 HG02559.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.304+3194A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157583993 | |||||||
| chr2:157584044 | T | TA | 5 | a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0022g0169 others(2): Show |
5 | HG01433.hp2 HG01515.hp2 HG01516.hp2 others(2): Show |
intron_variant | MODIFIER | c.304+3142dupT | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157584044 | |||||||
| chr2:157584326 | G | A | 2 | a0002c0003t0002g0034 a0002c0003t0002g0035 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.304+2861C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157584326 | |||||||
| chr2:157584491 | AT | A | 3 | a0001c0001t0011g0166 a0001c0001t0011g0167 a0001c0001t0037g0186 |
3 | HG02109.hp1 HG02615.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.304+2695delA | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157584491 | |||||||
| chr2:157584514 | A | G | 2 | a0002c0004t0002g0093 a0002c0004t0002g0094 |
2 | HG02886.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.304+2673T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157584514 | |||||||
| chr2:157584678 | T | G | 1 | a0002c0003t0002g0057 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.304+2509A>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157584678 | |||||||
| chr2:157584798 | T | G | 1 | a0002c0003t0026g0107 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.304+2389A>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157584798 | |||||||
| chr2:157585492 | G | A | 1 | a0001c0001t0022g0169 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.304+1695C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157585492 | |||||||
| chr2:157585493 | C | T | 57 | a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0032 others(54): Show |
57 | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(54): Show |
intron_variant | MODIFIER | c.304+1694G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157585493 | |||||||
| chr2:157585570 | A | G | 1 | a0002c0003t0002g0057 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.304+1617T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157585570 | |||||||
| chr2:157585811 | G | C | 3 | a0002c0005t0007g0004 a0002c0005t0007g0005 a0002c0005t0009g0009 |
3 | HG02572.hp2 HG02976.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.304+1376C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157585811 | |||||||
| chr2:157585824 | G | A | 3 | a0001c0002t0016g0037 a0001c0002t0016g0038 a0002c0003t0009g0036 |
3 | HG02622.hp2 HG02809.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.304+1363C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157585824 | |||||||
| chr2:157586054 | C | T | 1 | a0002c0003t0026g0107 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.304+1133G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157586054 | |||||||
| chr2:157586446 | G | A | 1 | a0001c0002t0004g0125 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.304+741C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157586446 | |||||||
| chr2:157586854 | C | T | 1 | a0001c0001t0001g0176 | 1 | NA19072.hp2 | intron_variant | MODIFIER | c.304+333G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157586854 | |||||||
| chr2:157587040 | T | C | 1 | a0001c0001t0001g0175 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.304+147A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | 157587040 | |||||||
| chr2:157587862 | C | T | 49 | a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0063 others(46): Show |
50 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(47): Show |
intron_variant | MODIFIER | c.74-445G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157587862 | |||||||
| chr2:157587900 | G | A | 3 | a0002c0003t0007g0100 a0002c0003t0017g0214 a0002c0003t0017g0215 |
3 | HG02615.hp1 HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.74-483C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157587900 | |||||||
| chr2:157587963 | A | G | 1 | a0001c0002t0005g0092 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.74-546T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157587963 | |||||||
| chr2:157588054 | T | C | 1 | a0001c0001t0003g0164 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.74-637A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157588054 | |||||||
| chr2:157588236 | T | TAC | 7 | a0001c0001t0001g0210 a0001c0001t0004g0185 a0001c0001t0005g0213 others(4): Show |
7 | HG01884.hp1 HG02280.hp1 HG03239.hp2 others(4): Show |
intron_variant | MODIFIER | c.74-821_74-820dupGT | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157588236 | |||||||
| chr2:157588236 | TAC | T | 6 | a0001c0002t0004g0122 a0002c0003t0002g0006 a0002c0003t0002g0060 others(3): Show |
6 | HG00741.hp1 HG01261.hp1 HG02145.hp1 others(3): Show |
intron_variant | MODIFIER | c.74-821_74-820delGT | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157588236 | |||||||
| chr2:157588236 | TACAC | T | 101 | a0001c0001t0001g0147 a0001c0002t0001g0041 a0001c0002t0001g0042 others(98): Show |
102 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(99): Show |
intron_variant | MODIFIER | c.74-823_74-820delGT others(2): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157588236 | |||||||
| chr2:157588236 | TACACAC | T | 19 | a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0032 others(16): Show |
19 | HG01891.hp1 HG02109.hp2 HG02486.hp2 others(16): Show |
intron_variant | MODIFIER | c.74-825_74-820delGT others(4): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157588236 | |||||||
| chr2:157588332 | C | T | 49 | a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0063 others(46): Show |
50 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(47): Show |
intron_variant | MODIFIER | c.74-915G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157588332 | |||||||
| chr2:157588509 | A | C | 2 | a0001c0002t0016g0037 a0001c0002t0016g0038 |
2 | HG02622.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.74-1092T>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157588509 | |||||||
| chr2:157588632 | C | T | 1 | a0001c0001t0001g0210 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.74-1215G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157588632 | |||||||
| chr2:157588708 | C | T | 68 | a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0063 others(65): Show |
69 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(66): Show |
intron_variant | MODIFIER | c.74-1291G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157588708 | |||||||
| chr2:157588775 | C | A | 1 | a0001c0002t0016g0037 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.74-1358G>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157588775 | |||||||
| chr2:157588848 | C | CAT | 32 | a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0019 others(29): Show |
32 | HG00558.hp2 HG00621.hp2 HG00741.hp2 others(29): Show |
intron_variant | MODIFIER | c.74-1433_74-1432dup others(2): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157588848 | |||||||
| chr2:157588848 | C | CATAT | 40 | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0020 others(37): Show |
40 | HG00544.hp1 HG00544.hp2 HG01192.hp2 others(37): Show |
intron_variant | MODIFIER | c.74-1435_74-1432dup others(4): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157588848 | |||||||
| chr2:157588848 | C | CATATAT | 16 | a0001c0001t0001g0152 a0001c0001t0001g0196 a0001c0001t0001g0211 others(13): Show |
16 | HG01074.hp2 HG01256.hp1 HG02071.hp2 others(13): Show |
intron_variant | MODIFIER | c.74-1437_74-1432dup others(6): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157588848 | |||||||
| chr2:157588848 | C | CATATATA others(1): Show |
19 | a0001c0001t0001g0013 a0001c0001t0001g0155 a0001c0001t0001g0200 others(16): Show |
19 | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(16): Show |
intron_variant | MODIFIER | c.74-1439_74-1432dup others(8): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157588848 | |||||||
| chr2:157588848 | C | CATATATA others(3): Show |
19 | a0001c0001t0001g0148 a0001c0001t0001g0194 a0001c0001t0012g0192 others(16): Show |
20 | HG00642.hp2 HG01168.hp1 HG01169.hp2 others(17): Show |
intron_variant | MODIFIER | c.74-1441_74-1432dup others(10): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157588848 | |||||||
| chr2:157588848 | C | CATATATA others(5): Show |
7 | a0001c0002t0001g0056 a0001c0002t0003g0062 a0001c0002t0003g0111 others(4): Show |
7 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(4): Show |
intron_variant | MODIFIER | c.74-1443_74-1432dup others(12): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157588848 | |||||||
| chr2:157588848 | C | CATATATA others(7): Show |
13 | a0001c0001t0001g0017 a0001c0001t0001g0202 a0001c0002t0001g0041 others(10): Show |
13 | HG00323.hp2 HG00639.hp1 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.74-1445_74-1432dup others(14): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157588848 | |||||||
| chr2:157588848 | C | CATATATA others(9): Show |
1 | a0002c0003t0002g0010 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.74-1447_74-1432dup others(16): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157588848 | |||||||
| chr2:157588848 | C | CATATATA others(13): Show |
1 | a0002c0003t0002g0060 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.74-1451_74-1432dup others(20): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157588848 | |||||||
| chr2:157588848 | C | CATATATA others(15): Show |
1 | a0001c0002t0008g0066 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.74-1453_74-1432dup others(22): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157588848 | |||||||
| chr2:157588848 | C | CATATATA others(17): Show |
2 | a0001c0002t0003g0059 a0003c0006t0005g0168 |
2 | HG01517.hp2 HG04228.hp2 |
intron_variant | MODIFIER | c.74-1455_74-1432dup others(24): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157588848 | |||||||
| chr2:157588848 | C | CATATATA others(19): Show |
1 | a0003c0006t0005g0187 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.74-1457_74-1432dup others(26): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157588848 | |||||||
| chr2:157588848 | CAT | C | 16 | a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 others(13): Show |
16 | HG00639.hp2 HG01106.hp2 HG01943.hp1 others(13): Show |
intron_variant | MODIFIER | c.74-1433_74-1432del others(2): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157588848 | |||||||
| chr2:157588848 | CATAT | C | 14 | a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0032 others(11): Show |
14 | HG01891.hp1 HG02109.hp2 HG02572.hp2 others(11): Show |
intron_variant | MODIFIER | c.74-1435_74-1432del others(4): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157588848 | |||||||
| chr2:157588848 | CATATAT | C | 4 | a0002c0003t0002g0022 a0002c0003t0002g0034 a0002c0003t0002g0035 others(1): Show |
4 | HG02895.hp1 HG02897.hp1 NA20300.hp2 others(1): Show |
intron_variant | MODIFIER | c.74-1437_74-1432del others(6): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157588848 | |||||||
| chr2:157588848 | CATATATA others(3): Show |
C | 5 | a0001c0002t0024g0108 a0002c0003t0006g0109 a0002c0003t0026g0107 others(2): Show |
5 | HG02145.hp1 HG02486.hp2 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.74-1441_74-1432del others(10): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157588848 | |||||||
| chr2:157588848 | CATATATA others(9): Show |
C | 2 | a0001c0002t0014g0049 a0001c0002t0028g0048 |
2 | HG02280.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.74-1447_74-1432del others(16): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157588848 | |||||||
| chr2:157588855 | A | ATATATAT others(29): Show |
1 | a0001c0001t0001g0151 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.74-1439_74-1438ins others(36): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157588855 | |||||||
| chr2:157588880 | C | T | 1 | a0002c0003t0002g0006 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.74-1463G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157588880 | |||||||
| chr2:157588881 | G | A | 1 | a0002c0003t0002g0006 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.74-1464C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157588881 | |||||||
| chr2:157588882 | T | TATATATA others(7): Show |
1 | a0002c0003t0002g0006 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.74-1466_74-1465ins others(14): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157588882 | |||||||
| chr2:157588889 | GTA | G | 5 | a0001c0002t0024g0108 a0002c0003t0006g0109 a0002c0003t0026g0107 others(2): Show |
5 | HG02145.hp1 HG02486.hp2 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.74-1474_74-1473del others(2): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157588889 | |||||||
| chr2:157588893 | A | G | 1 | a0002c0003t0013g0050 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.74-1476T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157588893 | |||||||
| chr2:157589153 | G | A | 1 | a0001c0002t0005g0033 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.74-1736C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157589153 | |||||||
| chr2:157589155 | G | A | 2 | a0002c0004t0002g0093 a0002c0004t0002g0094 |
2 | HG02886.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.74-1738C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157589155 | |||||||
| chr2:157589183 | A | G | 1 | a0002c0003t0026g0107 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.74-1766T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157589183 | |||||||
| chr2:157589603 | G | C | 1 | a0001c0002t0014g0049 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.74-2186C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157589603 | |||||||
| chr2:157590128 | T | C | 3 | a0002c0003t0007g0100 a0002c0003t0017g0214 a0002c0003t0017g0215 |
3 | HG02615.hp1 HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.74-2711A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157590128 | |||||||
| chr2:157590141 | A | T | 1 | a0002c0003t0002g0006 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.74-2724T>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157590141 | |||||||
| chr2:157590253 | T | C | 38 | a0001c0001t0001g0207 a0001c0002t0001g0041 a0001c0002t0001g0042 others(35): Show |
38 | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(35): Show |
intron_variant | MODIFIER | c.74-2836A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157590253 | |||||||
| chr2:157590462 | T | C | 1 | a0001c0001t0001g0017 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.74-3045A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157590462 | |||||||
| chr2:157590598 | C | T | 3 | a0001c0002t0016g0037 a0001c0002t0016g0038 a0002c0003t0009g0036 |
3 | HG02622.hp2 HG02809.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.74-3181G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157590598 | |||||||
| chr2:157590602 | C | G | 1 | a0002c0003t0026g0107 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.74-3185G>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157590602 | |||||||
| chr2:157590665 | C | T | 49 | a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0063 others(46): Show |
50 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(47): Show |
intron_variant | MODIFIER | c.74-3248G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157590665 | |||||||
| chr2:157590755 | C | G | 18 | a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0032 others(15): Show |
18 | HG01891.hp1 HG02109.hp2 HG02622.hp2 others(15): Show |
intron_variant | MODIFIER | c.74-3338G>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157590755 | |||||||
| chr2:157590842 | T | C | 12 | a0001c0002t0001g0075 a0001c0012t0003g0051 a0002c0003t0002g0010 others(9): Show |
12 | HG02145.hp2 HG02559.hp2 HG02630.hp1 others(9): Show |
intron_variant | MODIFIER | c.74-3425A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157590842 | |||||||
| chr2:157590947 | C | T | 1 | a0002c0003t0002g0057 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.74-3530G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157590947 | |||||||
| chr2:157591059 | C | G | 122 | a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0032 others(119): Show |
123 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(120): Show |
intron_variant | MODIFIER | c.74-3642G>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157591059 | |||||||
| chr2:157591699 | C | A | 1 | a0002c0003t0013g0050 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.74-4282G>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157591699 | |||||||
| chr2:157591765 | T | C | 1 | a0002c0003t0013g0050 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.74-4348A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157591765 | |||||||
| chr2:157592234 | G | T | 1 | a0001c0002t0001g0119 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.74-4817C>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157592234 | |||||||
| chr2:157592237 | C | T | 1 | a0002c0003t0005g0095 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.74-4820G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157592237 | |||||||
| chr2:157592460 | G | T | 3 | a0001c0002t0016g0037 a0001c0002t0016g0038 a0002c0003t0009g0036 |
3 | HG02622.hp2 HG02809.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.74-5043C>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157592460 | |||||||
| chr2:157592562 | C | T | 1 | a0002c0003t0002g0040 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.74-5145G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157592562 | |||||||
| chr2:157592569 | C | T | 1 | a0001c0001t0003g0154 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.74-5152G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157592569 | |||||||
| chr2:157592616 | C | G | 2 | a0001c0002t0016g0037 a0001c0002t0016g0038 |
2 | HG02622.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.74-5199G>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157592616 | |||||||
| chr2:157592967 | A | C | 3 | a0001c0001t0011g0166 a0001c0001t0011g0167 a0001c0001t0037g0186 |
3 | HG02109.hp1 HG02615.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.74-5550T>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157592967 | |||||||
| chr2:157593100 | A | G | 1 | a0001c0001t0005g0165 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.74-5683T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157593100 | |||||||
| chr2:157593699 | G | A | 3 | a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 |
3 | HG02055.hp2 HG02257.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.74-6282C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157593699 | |||||||
| chr2:157593804 | AAAAG | A | 5 | a0002c0003t0006g0077 a0002c0003t0006g0102 a0002c0003t0006g0103 others(2): Show |
5 | HG02055.hp1 HG02572.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.74-6391_74-6388del others(4): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157593804 | |||||||
| chr2:157594279 | C | T | 9 | a0002c0003t0002g0010 a0002c0003t0005g0008 a0002c0003t0005g0095 others(6): Show |
9 | HG02630.hp1 HG02647.hp2 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.74-6862G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157594279 | |||||||
| chr2:157594280 | T | C | 1 | a0002c0003t0002g0057 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.74-6863A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157594280 | |||||||
| chr2:157594409 | T | TGAAAAGA others(317): Show |
2 | a0001c0002t0001g0204 a0001c0002t0001g0205 |
2 | NA19002.hp2 NA19009.hp1 |
intron_variant | MODIFIER | c.74-6993_74-6992ins others(324): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157594409 | |||||||
| chr2:157594409 | T | TGAAAAGA others(318): Show |
31 | a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0045 others(28): Show |
31 | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(28): Show |
intron_variant | MODIFIER | c.74-6993_74-6992ins others(325): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157594409 | |||||||
| chr2:157594409 | T | TGAAAAGA others(319): Show |
3 | a0001c0002t0001g0043 a0001c0002t0001g0132 a0002c0003t0002g0039 |
3 | HG01943.hp2 HG02080.hp1 HG02257.hp1 |
intron_variant | MODIFIER | c.74-6993_74-6992ins others(326): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157594409 | |||||||
| chr2:157594411 | A | AAAAGAGA others(318): Show |
1 | a0001c0002t0001g0137 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.74-6995_74-6994ins others(325): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157594411 | |||||||
| chr2:157594487 | G | C | 18 | a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0032 others(15): Show |
18 | HG01891.hp1 HG02109.hp2 HG02622.hp2 others(15): Show |
intron_variant | MODIFIER | c.74-7070C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157594487 | |||||||
| chr2:157594917 | T | C | 3 | a0001c0001t0001g0147 a0001c0001t0001g0194 a0001c0001t0033g0195 |
3 | HG02080.hp2 NA18612.hp2 NA19062.hp1 |
intron_variant | MODIFIER | c.74-7500A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157594917 | |||||||
| chr2:157595313 | C | T | 57 | a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0032 others(54): Show |
57 | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(54): Show |
intron_variant | MODIFIER | c.74-7896G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157595313 | |||||||
| chr2:157595316 | T | G | 2 | a0001c0002t0014g0049 a0001c0002t0028g0048 |
2 | HG02280.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.74-7899A>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157595316 | |||||||
| chr2:157595351 | T | G | 1 | a0001c0001t0001g0200 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.74-7934A>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157595351 | |||||||
| chr2:157595468 | C | T | 1 | a0001c0002t0001g0101 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.74-8051G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157595468 | |||||||
| chr2:157595542 | C | T | 1 | a0001c0002t0015g0141 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.74-8125G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157595542 | |||||||
| chr2:157596486 | C | T | 1 | a0001c0002t0001g0065 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.74-9069G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157596486 | |||||||
| chr2:157596607 | G | C | 1 | a0001c0002t0004g0133 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.74-9190C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157596607 | |||||||
| chr2:157596706 | C | A | 126 | a0001c0001t0001g0207 a0001c0002t0001g0027 a0001c0002t0001g0030 others(123): Show |
127 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(124): Show |
intron_variant | MODIFIER | c.74-9289G>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157596706 | |||||||
| chr2:157597180 | C | T | 1 | a0001c0001t0001g0013 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.74-9763G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157597180 | |||||||
| chr2:157597300 | C | T | 1 | a0002c0004t0002g0093 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.74-9883G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157597300 | |||||||
| chr2:157597645 | C | T | 1 | a0001c0001t0003g0164 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.74-10228G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157597645 | |||||||
| chr2:157597767 | C | T | 36 | a0001c0001t0001g0207 a0001c0002t0001g0041 a0001c0002t0001g0042 others(33): Show |
36 | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(33): Show |
intron_variant | MODIFIER | c.74-10350G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157597767 | |||||||
| chr2:157598542 | G | GT | 38 | a0001c0001t0001g0207 a0001c0001t0003g0058 a0001c0002t0001g0041 others(35): Show |
38 | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(35): Show |
intron_variant | MODIFIER | c.74-11126dupA | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157598542 | |||||||
| chr2:157598623 | C | T | 127 | a0001c0001t0001g0207 a0001c0001t0003g0058 a0001c0002t0001g0027 others(124): Show |
128 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(125): Show |
intron_variant | MODIFIER | c.74-11206G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157598623 | |||||||
| chr2:157599009 | T | C | 1 | a0001c0001t0012g0193 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.74-11592A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157599009 | |||||||
| chr2:157599053 | G | T | 1 | a0002c0003t0013g0050 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.74-11636C>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157599053 | |||||||
| chr2:157599217 | C | T | 1 | a0001c0002t0004g0136 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.74-11800G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157599217 | |||||||
| chr2:157599262 | A | G | 1 | a0001c0001t0001g0153 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.74-11845T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157599262 | |||||||
| chr2:157599273 | G | A | 1 | a0001c0001t0037g0186 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.74-11856C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157599273 | |||||||
| chr2:157599314 | C | CA | 17 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0146 others(14): Show |
17 | HG00741.hp2 HG01515.hp2 HG01975.hp2 others(14): Show |
intron_variant | MODIFIER | c.74-11898dupT | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157599314 | |||||||
| chr2:157599314 | C | CAAAAAAA others(4): Show |
1 | a0001c0001t0030g0086 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.74-11908_74-11898d others(13): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157599314 | |||||||
| chr2:157599314 | CA | C | 30 | a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0019 others(27): Show |
30 | HG00323.hp1 HG00544.hp2 HG00639.hp2 others(27): Show |
intron_variant | MODIFIER | c.74-11898delT | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157599314 | |||||||
| chr2:157599314 | CAAA | C | 5 | a0001c0001t0003g0058 a0001c0002t0001g0112 a0001c0002t0024g0108 others(2): Show |
5 | HG01261.hp1 HG02486.hp2 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.74-11900_74-11898d others(5): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157599314 | |||||||
| chr2:157599314 | CAAAAAAA others(5): Show |
C | 2 | a0001c0002t0001g0065 a0002c0003t0005g0098 |
2 | HG02738.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.74-11909_74-11898d others(14): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157599314 | |||||||
| chr2:157599314 | CAAAAAAA others(6): Show |
C | 19 | a0001c0001t0012g0192 a0001c0002t0001g0063 a0001c0002t0001g0075 others(16): Show |
19 | HG01243.hp1 HG02145.hp2 HG02257.hp2 others(16): Show |
intron_variant | MODIFIER | c.74-11910_74-11898d others(15): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157599314 | |||||||
| chr2:157599314 | CAAAAAAA others(7): Show |
C | 42 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0005g0213 others(39): Show |
43 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(40): Show |
intron_variant | MODIFIER | c.74-11911_74-11898d others(16): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157599314 | |||||||
| chr2:157599314 | CAAAAAAA others(8): Show |
C | 1 | a0002c0003t0010g0087 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.74-11912_74-11898d others(17): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157599314 | |||||||
| chr2:157599314 | CAAAAAAA others(9): Show |
C | 2 | a0001c0002t0001g0208 a0001c0002t0003g0134 |
2 | NA18988.hp1 NA19002.hp1 |
intron_variant | MODIFIER | c.74-11913_74-11898d others(18): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157599314 | |||||||
| chr2:157599314 | CAAAAAAA others(10): Show |
C | 35 | a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0207 others(32): Show |
35 | HG00280.hp1 HG00544.hp1 HG00558.hp2 others(32): Show |
intron_variant | MODIFIER | c.74-11914_74-11898d others(19): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157599314 | |||||||
| chr2:157599314 | CAAAAAAA others(11): Show |
C | 1 | a0002c0003t0002g0039 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.74-11915_74-11898d others(20): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157599314 | |||||||
| chr2:157599314 | CAAAAAAA others(18): Show |
C | 2 | a0001c0002t0014g0049 a0001c0002t0028g0048 |
2 | HG02280.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.74-11922_74-11898d others(27): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157599314 | |||||||
| chr2:157599353 | G | C | 3 | a0002c0003t0007g0100 a0002c0003t0017g0214 a0002c0003t0017g0215 |
3 | HG02615.hp1 HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.74-11936C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157599353 | |||||||
| chr2:157599468 | C | T | 56 | a0001c0001t0001g0207 a0001c0002t0001g0027 a0001c0002t0001g0030 others(53): Show |
56 | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(53): Show |
intron_variant | MODIFIER | c.74-12051G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157599468 | |||||||
| chr2:157599553 | T | C | 1 | a0002c0004t0013g0018 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.74-12136A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157599553 | |||||||
| chr2:157599559 | C | T | 1 | a0001c0001t0005g0150 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.74-12142G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157599559 | |||||||
| chr2:157599776 | T | A | 1 | a0002c0003t0006g0109 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.74-12359A>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157599776 | |||||||
| chr2:157599860 | G | A | 2 | a0001c0001t0003g0058 a0002c0003t0002g0057 |
2 | HG02965.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.74-12443C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157599860 | |||||||
| chr2:157599864 | C | G | 1 | a0002c0003t0009g0036 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.74-12447G>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157599864 | |||||||
| chr2:157600130 | G | A | 57 | a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0032 others(54): Show |
57 | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(54): Show |
intron_variant | MODIFIER | c.74-12713C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157600130 | |||||||
| chr2:157600160 | A | G | 2 | a0001c0002t0014g0049 a0001c0002t0028g0048 |
2 | HG02280.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.74-12743T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157600160 | |||||||
| chr2:157600262 | A | G | 19 | a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0032 others(16): Show |
19 | HG01891.hp1 HG02109.hp2 HG02622.hp2 others(16): Show |
intron_variant | MODIFIER | c.74-12845T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157600262 | |||||||
| chr2:157600344 | A | G | 2 | a0001c0002t0014g0049 a0001c0002t0028g0048 |
2 | HG02280.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.74-12927T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157600344 | |||||||
| chr2:157600359 | T | C | 1 | a0002c0003t0002g0044 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.74-12942A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157600359 | |||||||
| chr2:157600976 | T | TAAAAATA others(317): Show |
1 | a0001c0002t0001g0065 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.74-13560_74-13559i others(326): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157600976 | |||||||
| chr2:157601014 | G | C | 166 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 others(163): Show |
166 | HG00280.hp1 HG00323.hp1 HG00544.hp1 others(163): Show |
intron_variant | MODIFIER | c.74-13597C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157601014 | |||||||
| chr2:157601120 | C | T | 2 | a0001c0001t0012g0192 a0001c0001t0012g0193 |
2 | HG02280.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.74-13703G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157601120 | |||||||
| chr2:157601241 | C | T | 36 | a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 others(33): Show |
36 | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(33): Show |
intron_variant | MODIFIER | c.74-13824G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157601241 | |||||||
| chr2:157601292 | G | A | 1 | a0001c0002t0001g0084 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.74-13875C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157601292 | |||||||
| chr2:157601341 | A | G | 1 | a0002c0003t0006g0077 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.74-13924T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157601341 | |||||||
| chr2:157601686 | G | C | 2 | a0001c0001t0012g0192 a0001c0001t0012g0193 |
2 | HG02280.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.74-14269C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157601686 | |||||||
| chr2:157602378 | T | G | 20 | a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0032 others(17): Show |
20 | HG01891.hp1 HG02109.hp2 HG02622.hp2 others(17): Show |
intron_variant | MODIFIER | c.74-14961A>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157602378 | |||||||
| chr2:157602589 | C | T | 1 | a0001c0001t0001g0002 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.74-15172G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157602589 | |||||||
| chr2:157602704 | T | C | 3 | a0001c0002t0016g0037 a0001c0002t0016g0038 a0002c0003t0009g0036 |
3 | HG02622.hp2 HG02809.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.74-15287A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157602704 | |||||||
| chr2:157602879 | A | G | 1 | a0002c0003t0005g0095 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.74-15462T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157602879 | |||||||
| chr2:157603412 | A | G | 1 | a0001c0002t0001g0075 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.74-15995T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157603412 | |||||||
| chr2:157603460 | T | G | 5 | a0001c0002t0024g0108 a0002c0003t0006g0109 a0002c0003t0026g0107 others(2): Show |
5 | HG02145.hp1 HG02486.hp2 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.74-16043A>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157603460 | |||||||
| chr2:157603502 | T | C | 2 | a0001c0001t0001g0194 a0001c0001t0033g0195 |
2 | HG02080.hp2 NA18612.hp2 |
intron_variant | MODIFIER | c.74-16085A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157603502 | |||||||
| chr2:157603883 | A | G | 1 | a0002c0003t0002g0006 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.74-16466T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157603883 | |||||||
| chr2:157603901 | C | T | 78 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 others(75): Show |
78 | HG00280.hp1 HG00323.hp1 HG00544.hp2 others(75): Show |
intron_variant | MODIFIER | c.74-16484G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157603901 | |||||||
| chr2:157603968 | T | C | 20 | a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0032 others(17): Show |
20 | HG01891.hp1 HG02109.hp2 HG02622.hp2 others(17): Show |
intron_variant | MODIFIER | c.74-16551A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157603968 | |||||||
| chr2:157604732 | C | T | 1 | a0001c0001t0003g0058 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.74-17315G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157604732 | |||||||
| chr2:157604838 | T | G | 1 | a0001c0001t0001g0197 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.74-17421A>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157604838 | |||||||
| chr2:157605419 | G | A | 1 | a0001c0002t0004g0135 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.74-18002C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157605419 | |||||||
| chr2:157605731 | G | A | 1 | a0002c0003t0013g0050 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.74-18314C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157605731 | |||||||
| chr2:157606285 | T | TA | 3 | a0002c0005t0007g0004 a0002c0005t0007g0005 a0002c0005t0009g0009 |
3 | HG02572.hp2 HG02976.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.74-18869dupT | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157606285 | |||||||
| chr2:157606391 | T | G | 1 | a0001c0002t0001g0101 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.74-18974A>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157606391 | |||||||
| chr2:157606624 | A | T | 1 | a0001c0001t0001g0148 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.74-19207T>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157606624 | |||||||
| chr2:157606861 | C | T | 11 | a0001c0012t0003g0051 a0002c0003t0002g0010 a0002c0003t0005g0008 others(8): Show |
11 | HG02145.hp2 HG02630.hp1 HG02647.hp2 others(8): Show |
intron_variant | MODIFIER | c.74-19444G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157606861 | |||||||
| chr2:157607634 | A | G | 36 | a0001c0001t0001g0207 a0001c0002t0001g0041 a0001c0002t0001g0042 others(33): Show |
36 | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(33): Show |
intron_variant | MODIFIER | c.74-20217T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157607634 | |||||||
| chr2:157607670 | T | C | 9 | a0002c0003t0002g0010 a0002c0003t0005g0008 a0002c0003t0005g0095 others(6): Show |
9 | HG02630.hp1 HG02647.hp2 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.74-20253A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157607670 | |||||||
| chr2:157607715 | T | C | 1 | a0001c0002t0001g0045 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.74-20298A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157607715 | |||||||
| chr2:157608163 | T | C | 1 | a0001c0002t0001g0056 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.73+20409A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157608163 | |||||||
| chr2:157608337 | G | A | 55 | a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0032 others(52): Show |
55 | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(52): Show |
intron_variant | MODIFIER | c.73+20235C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157608337 | |||||||
| chr2:157608462 | G | A | 2 | a0002c0003t0002g0046 a0002c0003t0002g0047 |
2 | HG01361.hp2 HG01433.hp1 |
intron_variant | MODIFIER | c.73+20110C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157608462 | |||||||
| chr2:157608602 | C | T | 1 | a0002c0003t0002g0006 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.73+19970G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157608602 | |||||||
| chr2:157608873 | G | C | 1 | a0001c0002t0001g0208 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.73+19699C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157608873 | |||||||
| chr2:157608885 | G | C | 13 | a0001c0001t0001g0199 a0001c0001t0001g0210 a0001c0001t0001g0211 others(10): Show |
14 | HG00642.hp2 HG01106.hp1 HG01168.hp1 others(11): Show |
intron_variant | MODIFIER | c.73+19687C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157608885 | |||||||
| chr2:157608972 | A | C | 3 | a0001c0002t0001g0075 a0001c0012t0003g0051 a0002c0013t0010g0052 |
3 | HG02145.hp2 HG02559.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.73+19600T>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157608972 | |||||||
| chr2:157609161 | C | G | 35 | a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 others(32): Show |
35 | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(32): Show |
intron_variant | MODIFIER | c.73+19411G>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157609161 | |||||||
| chr2:157609240 | G | A | 19 | a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0032 others(16): Show |
19 | HG01891.hp1 HG02109.hp2 HG02622.hp2 others(16): Show |
intron_variant | MODIFIER | c.73+19332C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157609240 | |||||||
| chr2:157609318 | G | A | 1 | a0002c0003t0013g0050 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.73+19254C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157609318 | |||||||
| chr2:157609393 | A | T | 1 | a0001c0001t0001g0147 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.73+19179T>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157609393 | |||||||
| chr2:157609732 | G | A | 2 | a0001c0002t0024g0108 a0002c0003t0006g0109 |
2 | HG02145.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.73+18840C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157609732 | |||||||
| chr2:157609761 | T | C | 35 | a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 others(32): Show |
35 | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(32): Show |
intron_variant | MODIFIER | c.73+18811A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157609761 | |||||||
| chr2:157609838 | T | C | 1 | a0001c0002t0004g0136 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.73+18734A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157609838 | |||||||
| chr2:157610034 | C | T | 2 | a0001c0001t0001g0002 a0001c0001t0001g0003 |
2 | HG01169.hp1 HG03710.hp2 |
intron_variant | MODIFIER | c.73+18538G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157610034 | |||||||
| chr2:157610111 | A | G | 1 | a0001c0002t0001g0074 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.73+18461T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157610111 | |||||||
| chr2:157610132 | T | C | 35 | a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 others(32): Show |
35 | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(32): Show |
intron_variant | MODIFIER | c.73+18440A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157610132 | |||||||
| chr2:157610259 | G | A | 1 | a0002c0003t0002g0006 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.73+18313C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157610259 | |||||||
| chr2:157610433 | T | C | 1 | a0001c0001t0001g0200 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.73+18139A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157610433 | |||||||
| chr2:157610770 | T | C | 2 | a0001c0002t0014g0049 a0001c0002t0028g0048 |
2 | HG02280.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.73+17802A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157610770 | |||||||
| chr2:157611254 | G | C | 1 | a0002c0003t0013g0050 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.73+17318C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157611254 | |||||||
| chr2:157611278 | T | A | 6 | a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 others(3): Show |
6 | HG02071.hp1 HG02602.hp1 NA18949.hp2 others(3): Show |
intron_variant | MODIFIER | c.73+17294A>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157611278 | |||||||
| chr2:157611405 | G | A | 1 | a0001c0002t0001g0030 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.73+17167C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157611405 | |||||||
| chr2:157611728 | G | T | 1 | a0001c0001t0001g0206 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.73+16844C>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157611728 | |||||||
| chr2:157611779 | G | A | 2 | a0001c0002t0014g0049 a0001c0002t0028g0048 |
2 | HG02280.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.73+16793C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157611779 | |||||||
| chr2:157612049 | T | C | 2 | a0001c0002t0014g0049 a0001c0002t0028g0048 |
2 | HG02280.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.73+16523A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157612049 | |||||||
| chr2:157612199 | C | T | 2 | a0001c0002t0014g0049 a0001c0002t0028g0048 |
2 | HG02280.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.73+16373G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157612199 | |||||||
| chr2:157612346 | C | A | 1 | a0002c0003t0021g0099 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.73+16226G>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157612346 | |||||||
| chr2:157612359 | C | T | 2 | a0002c0003t0002g0023 a0002c0003t0002g0024 |
2 | HG01891.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.73+16213G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157612359 | |||||||
| chr2:157612538 | G | C | 35 | a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 others(32): Show |
35 | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(32): Show |
intron_variant | MODIFIER | c.73+16034C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157612538 | |||||||
| chr2:157612561 | C | T | 15 | a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0032 others(12): Show |
15 | HG01891.hp1 HG02109.hp2 HG02630.hp2 others(12): Show |
intron_variant | MODIFIER | c.73+16011G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157612561 | |||||||
| chr2:157612562 | C | T | 1 | a0002c0003t0009g0036 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.73+16010G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157612562 | |||||||
| chr2:157612563 | A | G | 20 | a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0032 others(17): Show |
20 | HG01891.hp1 HG02109.hp2 HG02622.hp2 others(17): Show |
intron_variant | MODIFIER | c.73+16009T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157612563 | |||||||
| chr2:157612727 | A | G | 1 | a0002c0003t0007g0076 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.73+15845T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157612727 | |||||||
| chr2:157612893 | A | G | 4 | a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 others(1): Show |
4 | HG01106.hp2 HG01943.hp1 HG01975.hp2 others(1): Show |
intron_variant | MODIFIER | c.73+15679T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157612893 | |||||||
| chr2:157612938 | G | A | 19 | a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0032 others(16): Show |
19 | HG01891.hp1 HG02109.hp2 HG02622.hp2 others(16): Show |
intron_variant | MODIFIER | c.73+15634C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157612938 | |||||||
| chr2:157612977 | C | T | 1 | a0001c0002t0001g0118 | 1 | NA19064.hp1 | intron_variant | MODIFIER | c.73+15595G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157612977 | |||||||
| chr2:157613043 | G | C | 1 | a0001c0007t0012g0085 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.73+15529C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157613043 | |||||||
| chr2:157613180 | C | T | 35 | a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 others(32): Show |
35 | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(32): Show |
intron_variant | MODIFIER | c.73+15392G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157613180 | |||||||
| chr2:157613281 | T | C | 1 | a0001c0001t0001g0211 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.73+15291A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157613281 | |||||||
| chr2:157613450 | G | GT | 23 | a0001c0001t0035g0142 a0001c0002t0001g0027 a0001c0002t0001g0030 others(20): Show |
23 | HG01891.hp1 HG02109.hp2 HG02280.hp2 others(20): Show |
intron_variant | MODIFIER | c.73+15121dupA | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157613450 | |||||||
| chr2:157613462 | AATATT | A | 35 | a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 others(32): Show |
35 | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(32): Show |
intron_variant | MODIFIER | c.73+15105_73+15109d others(7): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157613462 | |||||||
| chr2:157613468 | T | C | 35 | a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 others(32): Show |
35 | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(32): Show |
intron_variant | MODIFIER | c.73+15104A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157613468 | |||||||
| chr2:157613469 | T | A | 35 | a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 others(32): Show |
35 | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(32): Show |
intron_variant | MODIFIER | c.73+15103A>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157613469 | |||||||
| chr2:157613865 | G | A | 1 | a0002c0003t0013g0050 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.73+14707C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157613865 | |||||||
| chr2:157613924 | A | T | 14 | a0001c0002t0001g0075 a0001c0002t0001g0081 a0001c0002t0001g0084 others(11): Show |
14 | HG01884.hp2 HG02055.hp1 HG02257.hp2 others(11): Show |
intron_variant | MODIFIER | c.73+14648T>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157613924 | |||||||
| chr2:157613999 | G | A | 1 | a0001c0002t0001g0137 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.73+14573C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157613999 | |||||||
| chr2:157614232 | G | C | 3 | a0002c0003t0007g0100 a0002c0003t0017g0214 a0002c0003t0017g0215 |
3 | HG02615.hp1 HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.73+14340C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157614232 | |||||||
| chr2:157614384 | T | C | 36 | a0001c0001t0001g0207 a0001c0002t0001g0041 a0001c0002t0001g0042 others(33): Show |
36 | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(33): Show |
intron_variant | MODIFIER | c.73+14188A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157614384 | |||||||
| chr2:157614748 | C | A | 35 | a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 others(32): Show |
35 | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(32): Show |
intron_variant | MODIFIER | c.73+13824G>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157614748 | |||||||
| chr2:157614997 | A | G | 36 | a0001c0001t0001g0207 a0001c0002t0001g0041 a0001c0002t0001g0042 others(33): Show |
36 | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(33): Show |
intron_variant | MODIFIER | c.73+13575T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157614997 | |||||||
| chr2:157615069 | C | T | 2 | a0001c0002t0014g0049 a0001c0002t0028g0048 |
2 | HG02280.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.73+13503G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157615069 | |||||||
| chr2:157615154 | T | C | 2 | a0001c0002t0014g0049 a0001c0002t0028g0048 |
2 | HG02280.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.73+13418A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157615154 | |||||||
| chr2:157615318 | C | CA | 17 | a0001c0001t0001g0200 a0001c0001t0001g0210 a0001c0001t0001g0211 others(14): Show |
17 | HG00280.hp2 HG00323.hp2 HG01074.hp2 others(14): Show |
intron_variant | MODIFIER | c.73+13253dupT | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157615318 | |||||||
| chr2:157615318 | CA | C | 31 | a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0032 others(28): Show |
31 | HG01891.hp1 HG02109.hp2 HG02145.hp2 others(28): Show |
intron_variant | MODIFIER | c.73+13253delT | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157615318 | |||||||
| chr2:157615331 | A | C | 1 | a0002c0003t0002g0022 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.73+13241T>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157615331 | |||||||
| chr2:157616033 | T | C | 2 | a0001c0002t0016g0037 a0001c0002t0016g0038 |
2 | HG02622.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.73+12539A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157616033 | |||||||
| chr2:157616340 | T | C | 18 | a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0032 others(15): Show |
18 | HG01891.hp1 HG02109.hp2 HG02622.hp2 others(15): Show |
intron_variant | MODIFIER | c.73+12232A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157616340 | |||||||
| chr2:157616455 | T | C | 1 | a0002c0013t0010g0052 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.73+12117A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157616455 | |||||||
| chr2:157616496 | T | C | 36 | a0001c0001t0001g0207 a0001c0002t0001g0041 a0001c0002t0001g0042 others(33): Show |
36 | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(33): Show |
intron_variant | MODIFIER | c.73+12076A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157616496 | |||||||
| chr2:157616679 | T | C | 1 | a0001c0002t0001g0074 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.73+11893A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157616679 | |||||||
| chr2:157616866 | A | G | 2 | a0001c0002t0014g0049 a0001c0002t0028g0048 |
2 | HG02280.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.73+11706T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157616866 | |||||||
| chr2:157616918 | CAGA | C | 34 | a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 others(31): Show |
34 | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(31): Show |
intron_variant | MODIFIER | c.73+11651_73+11653d others(5): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157616918 | |||||||
| chr2:157616923 | G | T | 1 | a0002c0005t0007g0004 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.73+11649C>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157616923 | |||||||
| chr2:157617085 | G | A | 1 | a0001c0002t0015g0141 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.73+11487C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157617085 | |||||||
| chr2:157617090 | A | G | 1 | a0001c0002t0001g0117 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.73+11482T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157617090 | |||||||
| chr2:157617778 | G | GAT | 3 | a0001c0002t0001g0075 a0001c0012t0003g0051 a0002c0013t0010g0052 |
3 | HG02145.hp2 HG02559.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.73+10792_73+10793d others(4): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157617778 | |||||||
| chr2:157617870 | T | C | 1 | a0001c0001t0001g0206 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.73+10702A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157617870 | |||||||
| chr2:157618485 | T | C | 1 | a0002c0003t0013g0050 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.73+10087A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157618485 | |||||||
| chr2:157618699 | G | C | 2 | a0001c0002t0014g0049 a0001c0002t0028g0048 |
2 | HG02280.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.73+9873C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157618699 | |||||||
| chr2:157618724 | T | C | 1 | a0002c0003t0010g0031 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.73+9848A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157618724 | |||||||
| chr2:157618805 | A | C | 1 | a0002c0005t0007g0004 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.73+9767T>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157618805 | |||||||
| chr2:157618872 | C | A | 1 | a0001c0002t0001g0032 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.73+9700G>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157618872 | |||||||
| chr2:157618968 | C | A | 2 | a0001c0002t0001g0112 a0001c0002t0001g0117 |
2 | HG00609.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.73+9604G>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157618968 | |||||||
| chr2:157619028 | G | A | 194 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 others(191): Show |
194 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(191): Show |
intron_variant | MODIFIER | c.73+9544C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157619028 | |||||||
| chr2:157619225 | G | C | 13 | a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 others(10): Show |
13 | HG02145.hp1 HG02486.hp2 HG02559.hp1 others(10): Show |
intron_variant | MODIFIER | c.73+9347C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157619225 | |||||||
| chr2:157619276 | A | G | 1 | a0001c0001t0004g0139 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.73+9296T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157619276 | |||||||
| chr2:157619634 | T | C | 13 | a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 others(10): Show |
13 | HG02145.hp1 HG02486.hp2 HG02559.hp1 others(10): Show |
intron_variant | MODIFIER | c.73+8938A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157619634 | |||||||
| chr2:157619731 | C | T | 2 | a0001c0001t0003g0058 a0002c0003t0002g0057 |
2 | HG02965.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.73+8841G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157619731 | |||||||
| chr2:157620647 | G | C | 1 | a0002c0003t0013g0050 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.73+7925C>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157620647 | |||||||
| chr2:157621261 | T | C | 36 | a0001c0001t0001g0207 a0001c0002t0001g0041 a0001c0002t0001g0042 others(33): Show |
36 | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(33): Show |
intron_variant | MODIFIER | c.73+7311A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157621261 | |||||||
| chr2:157621286 | G | A | 1 | a0001c0002t0005g0033 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.73+7286C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157621286 | |||||||
| chr2:157621292 | G | T | 1 | a0002c0003t0002g0057 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.73+7280C>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157621292 | |||||||
| chr2:157621340 | C | A | 3 | a0002c0003t0006g0102 a0002c0003t0006g0103 a0002c0003t0006g0104 |
3 | HG02055.hp1 NA19043.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.73+7232G>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157621340 | |||||||
| chr2:157621749 | T | A | 2 | a0001c0002t0014g0049 a0001c0002t0028g0048 |
2 | HG02280.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.73+6823A>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157621749 | |||||||
| chr2:157621801 | C | T | 1 | a0001c0002t0001g0116 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.73+6771G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157621801 | |||||||
| chr2:157622035 | G | A | 1 | a0001c0002t0004g0138 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.73+6537C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157622035 | |||||||
| chr2:157622712 | T | C | 1 | a0001c0002t0023g0007 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.73+5860A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157622712 | |||||||
| chr2:157622787 | G | A | 2 | a0001c0001t0001g0019 a0001c0001t0001g0020 |
2 | HG03098.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.73+5785C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157622787 | |||||||
| chr2:157622907 | T | C | 1 | a0002c0003t0013g0050 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.73+5665A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157622907 | |||||||
| chr2:157623412 | T | C | 1 | a0002c0003t0013g0050 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.73+5160A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157623412 | |||||||
| chr2:157623477 | C | G | 1 | a0001c0002t0003g0115 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.73+5095G>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157623477 | |||||||
| chr2:157623823 | T | C | 1 | a0001c0001t0003g0209 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.73+4749A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157623823 | |||||||
| chr2:157623869 | T | C | 1 | a0001c0001t0001g0210 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.73+4703A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157623869 | |||||||
| chr2:157623951 | T | G | 2 | a0002c0003t0002g0034 a0002c0003t0002g0035 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.73+4621A>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157623951 | |||||||
| chr2:157623995 | T | C | 13 | a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 others(10): Show |
13 | HG02145.hp1 HG02486.hp2 HG02559.hp1 others(10): Show |
intron_variant | MODIFIER | c.73+4577A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157623995 | |||||||
| chr2:157624209 | C | T | 5 | a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0110 others(2): Show |
5 | HG00280.hp2 HG00323.hp2 HG00639.hp1 others(2): Show |
intron_variant | MODIFIER | c.73+4363G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157624209 | |||||||
| chr2:157624350 | C | T | 2 | a0001c0012t0003g0051 a0002c0013t0010g0052 |
2 | HG02145.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.73+4222G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157624350 | |||||||
| chr2:157625192 | A | G | 1 | a0001c0002t0004g0114 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.73+3380T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157625192 | |||||||
| chr2:157625289 | T | C | 1 | a0001c0001t0001g0211 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.73+3283A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157625289 | |||||||
| chr2:157625480 | A | G | 57 | a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0032 others(54): Show |
57 | HG00544.hp1 HG00558.hp2 HG00609.hp1 others(54): Show |
intron_variant | MODIFIER | c.73+3092T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157625480 | |||||||
| chr2:157625651 | C | T | 15 | a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0032 others(12): Show |
15 | HG01891.hp1 HG02109.hp2 HG02630.hp2 others(12): Show |
intron_variant | MODIFIER | c.73+2921G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157625651 | |||||||
| chr2:157625678 | A | G | 8 | a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 others(5): Show |
8 | HG02723.hp2 HG02897.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.73+2894T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157625678 | |||||||
| chr2:157626221 | G | A | 2 | a0001c0001t0003g0212 a0002c0003t0017g0215 |
2 | HG02717.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.73+2351C>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157626221 | |||||||
| chr2:157626250 | T | G | 1 | a0001c0002t0001g0110 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.73+2322A>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157626250 | |||||||
| chr2:157626285 | T | C | 1 | a0001c0002t0003g0111 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.73+2287A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157626285 | |||||||
| chr2:157626409 | A | G | 3 | a0002c0003t0002g0010 a0002c0003t0007g0012 a0002c0011t0002g0011 |
3 | HG02647.hp2 HG02717.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.73+2163T>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157626409 | |||||||
| chr2:157626749 | C | T | 3 | a0002c0005t0007g0004 a0002c0005t0007g0005 a0002c0005t0009g0009 |
3 | HG02572.hp2 HG02976.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.73+1823G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157626749 | |||||||
| chr2:157626809 | T | C | 1 | a0001c0001t0005g0213 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.73+1763A>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157626809 | |||||||
| chr2:157626921 | C | T | 1 | a0002c0003t0005g0008 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.73+1651G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157626921 | |||||||
| chr2:157626994 | A | C | 1 | a0001c0002t0023g0007 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.73+1578T>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157626994 | |||||||
| chr2:157627137 | A | C | 1 | a0002c0003t0002g0006 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.73+1435T>G | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157627137 | |||||||
| chr2:157627149 | T | G | 1 | a0001c0002t0001g0112 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.73+1423A>C | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157627149 | |||||||
| chr2:157627752 | C | T | 1 | a0001c0002t0004g0113 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.73+820G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157627752 | |||||||
| chr2:157628258 | T | A | 102 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0143 others(99): Show |
102 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(99): Show |
intron_variant | MODIFIER | c.73+314A>T | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157628258 | |||||||
| chr2:157628513 | C | T | 2 | a0002c0005t0007g0004 a0002c0005t0007g0005 |
2 | HG02976.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.73+59G>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157628513 | |||||||
| chr2:157628563 | G | T | 2 | a0001c0001t0001g0002 a0001c0001t0001g0003 |
2 | HG01169.hp1 HG03710.hp2 |
intron_variant | MODIFIER | c.73+9C>A | ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | 157628563 |