Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 23301 |
| ensemblid | ENSG00000115504.15 |
| hgncid | 29144 |
| symbol | EHBP1 |
| name | EH domain binding protein 1 |
| refseq_nuc | NM_001142616.3 |
| refseq_prot | NP_001136088.1 |
| ensembl_nuc | ENST00000431489.6 |
| ensembl_prot | ENSP00000403783.1 |
| mane_status | MANE Select |
| chr | chr2 |
| start | 62705713 |
| end | 63046487 |
| strand | + |
| ver | v1.2 |
| region | chr2:62705713-63046487 |
| region5000 | chr2:62700713-63051487 |
| regionname0 | EHBP1_chr2_62705713_63046487 |
| regionname5000 | EHBP1_chr2_62700713_63051487 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 1160 | 182 | 49 | 34 | 65 | 10 | 22 | 43 | EHBP1_chr2_62700713_63051487 | EHBP1 | MASVW others(1155): Show |
chr2 | 62700713 | 63051487 |
| a0002 | 0/0 | 1160 | 13 | 1 | 3 | 5 | 0 | 4 | 3 | EHBP1_chr2_62700713_63051487 | EHBP1 | MASVW others(1155): Show |
chr2 | 62700713 | 63051487 |
| a0003 | 0/0 | 1160 | 2 | 0 | 2 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | MASVW others(1155): Show |
chr2 | 62700713 | 63051487 |
| a0004 | 0/0 | 1160 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | MASVW others(1155): Show |
chr2 | 62700713 | 63051487 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 3480 | 168 | 39 | 31 | 65 | 10 | 21 | EHBP1_chr2_62700713_63051487 | EHBP1 | ATGGC others(3475): Show |
chr2 | 62700713 | 63051487 | ||
| a0001c0003 | 0/0 | 3480 | 6 | 6 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | ATGGC others(3475): Show |
chr2 | 62700713 | 63051487 | ||
| a0001c0004 | 0/0 | 3480 | 4 | 3 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | ATGGC others(3475): Show |
chr2 | 62700713 | 63051487 | ||
| a0001c0006 | 0/0 | 3480 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | ATGGC others(3475): Show |
chr2 | 62700713 | 63051487 | ||
| a0001c0007 | 0/0 | 3480 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | ATGGC others(3475): Show |
chr2 | 62700713 | 63051487 | ||
| a0001c0008 | 0/0 | 3480 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | ATGGC others(3475): Show |
chr2 | 62700713 | 63051487 | ||
| a0001c0010 | 0/0 | 3480 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | ATGGC others(3475): Show |
chr2 | 62700713 | 63051487 | ||
| a0002c0002 | 0/0 | 3480 | 13 | 1 | 3 | 5 | 0 | 4 | EHBP1_chr2_62700713_63051487 | EHBP1 | ATGGC others(3475): Show |
chr2 | 62700713 | 63051487 | ||
| a0003c0005 | 0/0 | 3480 | 2 | 0 | 2 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | ATGGC others(3475): Show |
chr2 | 62700713 | 63051487 | ||
| a0004c0009 | 0/0 | 3480 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | ATGGC others(3475): Show |
chr2 | 62700713 | 63051487 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 1/1 | 5105 | 133 | 37 | 22 | 45 | 9 | 18 | EHBP1_chr2_62700713_63051487 | EHBP1 | AGTGT others(5100): Show |
chr2 | 62700713 | 63051487 |
| a0001c0001t0002 | 0/0 | 5105 | 33 | 1 | 9 | 19 | 1 | 3 | EHBP1_chr2_62700713_63051487 | EHBP1 | AGTGT others(5100): Show |
chr2 | 62700713 | 63051487 |
| a0001c0001t0004 | 0/0 | 5105 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | AGTGT others(5100): Show |
chr2 | 62700713 | 63051487 |
| a0001c0001t0005 | 0/0 | 5105 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | AGTGT others(5100): Show |
chr2 | 62700713 | 63051487 |
| a0001c0003t0001 | 0/0 | 5105 | 6 | 6 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | AGTGT others(5100): Show |
chr2 | 62700713 | 63051487 |
| a0001c0004t0001 | 0/0 | 5105 | 2 | 1 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | AGTGT others(5100): Show |
chr2 | 62700713 | 63051487 |
| a0001c0004t0003 | 0/0 | 5105 | 2 | 2 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | AGTGT others(5100): Show |
chr2 | 62700713 | 63051487 |
| a0001c0006t0001 | 0/0 | 5105 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | AGTGT others(5100): Show |
chr2 | 62700713 | 63051487 |
| a0001c0007t0002 | 0/0 | 5105 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | AGTGT others(5100): Show |
chr2 | 62700713 | 63051487 |
| a0001c0008t0001 | 0/0 | 5105 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | AGTGT others(5100): Show |
chr2 | 62700713 | 63051487 |
| a0001c0010t0001 | 0/0 | 5105 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | AGTGT others(5100): Show |
chr2 | 62700713 | 63051487 |
| a0002c0002t0001 | 0/0 | 5105 | 13 | 1 | 3 | 5 | 0 | 4 | EHBP1_chr2_62700713_63051487 | EHBP1 | AGTGT others(5100): Show |
chr2 | 62700713 | 63051487 |
| a0003c0005t0001 | 0/0 | 5105 | 2 | 0 | 2 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | AGTGT others(5100): Show |
chr2 | 62700713 | 63051487 |
| a0004c0009t0001 | 0/0 | 5105 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | AGTGT others(5100): Show |
chr2 | 62700713 | 63051487 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0002 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0022 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0023 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0024 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0026 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0029 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0030 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0032 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0033 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0034 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0038 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0040 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0042 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0056 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0068 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0069 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0073 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0074 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0075 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0098 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0124 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0126 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0130 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0139 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0142 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0149 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0151 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0165 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0166 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0167 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0169 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0170 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0171 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0172 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0173 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0178 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0179 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0181 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0182 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0183 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0184 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0185 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0193 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0194 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0196 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0001g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0002g0037 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0002g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0002g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0002g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0002g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0002g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0002g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0002g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0002g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0002g0088 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0002g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0002g0091 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0002g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0002g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0002g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0002g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0002g0096 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0002g0099 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0002g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0002g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0002g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0002g0103 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0002g0104 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0002g0105 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0002g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0002g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0002g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0002g0111 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0002g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0002g0113 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0002g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0002g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0002g0176 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0004g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0001t0005g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0003t0001g0186 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0003t0001g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0003t0001g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0003t0001g0189 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0003t0001g0190 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0003t0001g0191 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0004t0001g0118 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0004t0001g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0004t0003g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0004t0003g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0006t0001g0160 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0007t0002g0097 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0008t0001g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0001c0010t0001g0155 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0002c0002t0001g0004 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0002c0002t0001g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0002c0002t0001g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0002c0002t0001g0009 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0002c0002t0001g0010 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0002c0002t0001g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0002c0002t0001g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0002c0002t0001g0013 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0002c0002t0001g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0002c0002t0001g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0002c0002t0001g0125 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0002c0002t0001g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0002c0002t0001g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0003c0005t0001g0163 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0003c0005t0001g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| a0004c0009t0001g0197 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0001 | g0166 | EUR | GBR | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG00099 | hp2 | a0001 | c0001 | t0001 | g0026 | EUR | GBR | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG00280 | hp1 | a0001 | c0001 | t0001 | g0196 | EUR | FIN | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG00280 | hp2 | a0001 | c0001 | t0001 | g0032 | EUR | FIN | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG00438 | hp1 | a0002 | c0002 | t0001 | g0005 | EAS | CHS | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG00438 | hp2 | a0001 | c0001 | t0001 | g0053 | EAS | CHS | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG00544 | hp1 | a0001 | c0001 | t0001 | g0138 | EAS | CHS | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG00544 | hp2 | a0001 | c0001 | t0002 | g0092 | EAS | CHS | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG00558 | hp1 | a0001 | c0001 | t0002 | g0101 | EAS | CHS | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG00558 | hp2 | a0001 | c0001 | t0001 | g0146 | EAS | CHS | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG00621 | hp1 | a0001 | c0001 | t0001 | g0145 | EAS | CHS | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG00621 | hp2 | a0001 | c0001 | t0001 | g0050 | EAS | CHS | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG00639 | hp1 | a0001 | c0001 | t0001 | g0167 | AMR | PUR | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG00639 | hp2 | a0001 | c0001 | t0002 | g0090 | AMR | PUR | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG00642 | hp1 | a0001 | c0001 | t0001 | g0072 | AMR | PUR | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG00642 | hp2 | a0001 | c0001 | t0001 | g0182 | AMR | PUR | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG00738 | hp1 | a0001 | c0006 | t0001 | g0160 | AMR | PUR | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG00738 | hp2 | a0001 | c0001 | t0001 | g0041 | AMR | PUR | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG01070 | hp1 | a0001 | c0007 | t0002 | g0097 | AMR | PUR | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG01070 | hp2 | a0003 | c0005 | t0001 | g0164 | AMR | PUR | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG01071 | hp1 | a0003 | c0005 | t0001 | g0163 | AMR | PUR | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG01071 | hp2 | a0001 | c0001 | t0002 | g0088 | AMR | PUR | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG01074 | hp1 | a0001 | c0001 | t0001 | g0031 | AMR | PUR | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG01074 | hp2 | a0001 | c0001 | t0001 | g0194 | AMR | PUR | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG01167 | hp1 | a0001 | c0001 | t0001 | g0124 | AMR | PUR | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG01167 | hp2 | a0001 | c0004 | t0001 | g0118 | AMR | PUR | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG01175 | hp1 | a0001 | c0001 | t0001 | g0039 | AMR | PUR | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG01175 | hp2 | a0001 | c0001 | t0001 | g0144 | AMR | PUR | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG01243 | hp1 | a0001 | c0001 | t0002 | g0111 | AMR | PUR | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG01243 | hp2 | a0004 | c0009 | t0001 | g0197 | AMR | PUR | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG01256 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | CLM | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG01256 | hp2 | a0001 | c0001 | t0001 | g0024 | AMR | CLM | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG01257 | hp1 | a0001 | c0001 | t0001 | g0139 | AMR | CLM | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG01257 | hp2 | a0001 | c0001 | t0002 | g0104 | AMR | CLM | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG01258 | hp1 | a0001 | c0001 | t0001 | g0003 | AMR | CLM | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG01258 | hp2 | a0001 | c0001 | t0002 | g0105 | AMR | CLM | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG01261 | hp1 | a0001 | c0001 | t0001 | g0075 | AMR | CLM | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG01261 | hp2 | a0001 | c0001 | t0001 | g0165 | AMR | CLM | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG01346 | hp1 | a0001 | c0001 | t0001 | g0171 | AMR | CLM | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG01346 | hp2 | a0001 | c0001 | t0002 | g0094 | AMR | CLM | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG01361 | hp1 | a0001 | c0001 | t0001 | g0007 | AMR | CLM | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG01361 | hp2 | a0002 | c0002 | t0001 | g0071 | AMR | CLM | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG01496 | hp1 | a0001 | c0001 | t0001 | g0028 | AMR | CLM | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG01496 | hp2 | a0002 | c0002 | t0001 | g0014 | AMR | CLM | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG01515 | hp1 | a0001 | c0001 | t0001 | g0038 | EUR | IBS | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG01515 | hp2 | a0001 | c0001 | t0001 | g0069 | EUR | IBS | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG01884 | hp1 | a0001 | c0001 | t0001 | g0035 | AFR | ACB | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG01884 | hp2 | a0001 | c0001 | t0001 | g0020 | AFR | ACB | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG01981 | hp1 | a0001 | c0001 | t0002 | g0037 | AMR | PEL | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG01981 | hp2 | a0001 | c0001 | t0001 | g0098 | AMR | PEL | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02015 | hp1 | a0001 | c0001 | t0001 | g0177 | EAS | KHV | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02015 | hp2 | a0001 | c0001 | t0004 | g0089 | EAS | KHV | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02040 | hp1 | a0001 | c0001 | t0002 | g0086 | EAS | KHV | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02040 | hp2 | a0001 | c0001 | t0001 | g0152 | EAS | KHV | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02071 | hp1 | a0001 | c0001 | t0001 | g0147 | EAS | KHV | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02071 | hp2 | a0001 | c0001 | t0002 | g0100 | EAS | KHV | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02135 | hp1 | a0001 | c0001 | t0001 | g0174 | EAS | KHV | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02135 | hp2 | a0001 | c0001 | t0002 | g0087 | EAS | KHV | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02145 | hp1 | a0001 | c0001 | t0002 | g0112 | AFR | ACB | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02145 | hp2 | a0001 | c0001 | t0001 | g0136 | AFR | ACB | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02155 | hp1 | a0001 | c0001 | t0001 | g0157 | EAS | CDX | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02155 | hp2 | a0001 | c0001 | t0002 | g0102 | EAS | CDX | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02165 | hp1 | a0001 | c0001 | t0001 | g0015 | EAS | CDX | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02165 | hp2 | a0001 | c0001 | t0001 | g0175 | EAS | CDX | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02258 | hp1 | a0001 | c0001 | t0001 | g0025 | AFR | ACB | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02258 | hp2 | a0001 | c0001 | t0001 | g0078 | AFR | ACB | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02280 | hp1 | a0001 | c0001 | t0001 | g0061 | AFR | ACB | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02280 | hp2 | a0001 | c0004 | t0003 | g0115 | AFR | ACB | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02293 | hp1 | a0001 | c0001 | t0002 | g0103 | AMR | PEL | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02293 | hp2 | a0001 | c0001 | t0001 | g0178 | AMR | PEL | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02300 | hp1 | a0001 | c0001 | t0002 | g0113 | AMR | PEL | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02300 | hp2 | a0001 | c0001 | t0001 | g0070 | AMR | PEL | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02602 | hp1 | a0002 | c0002 | t0001 | g0125 | SAS | PJL | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02602 | hp2 | a0001 | c0001 | t0001 | g0149 | SAS | PJL | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02622 | hp1 | a0001 | c0001 | t0001 | g0159 | AFR | GWD | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02622 | hp2 | a0001 | c0001 | t0001 | g0198 | AFR | GWD | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02698 | hp1 | a0001 | c0001 | t0002 | g0096 | SAS | PJL | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02698 | hp2 | a0001 | c0001 | t0001 | g0073 | SAS | PJL | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02717 | hp1 | a0001 | c0001 | t0001 | g0079 | AFR | GWD | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02717 | hp2 | a0001 | c0003 | t0001 | g0189 | AFR | GWD | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02735 | hp1 | a0001 | c0001 | t0001 | g0126 | SAS | PJL | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02735 | hp2 | a0001 | c0001 | t0001 | g0074 | SAS | PJL | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02809 | hp1 | a0001 | c0001 | t0001 | g0043 | AFR | GWD | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02809 | hp2 | a0001 | c0004 | t0001 | g0121 | AFR | GWD | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02818 | hp1 | a0001 | c0001 | t0001 | g0116 | AFR | GWD | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02818 | hp2 | a0001 | c0001 | t0001 | g0019 | AFR | GWD | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02886 | hp1 | a0002 | c0002 | t0001 | g0195 | AFR | GWD | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02886 | hp2 | a0001 | c0001 | t0001 | g0185 | AFR | GWD | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02922 | hp1 | a0001 | c0001 | t0001 | g0120 | AFR | ESN | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02922 | hp2 | a0001 | c0001 | t0001 | g0018 | AFR | ESN | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02965 | hp1 | a0001 | c0001 | t0001 | g0036 | AFR | ESN | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02965 | hp2 | a0001 | c0001 | t0001 | g0132 | AFR | ESN | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02970 | hp1 | a0001 | c0001 | t0001 | g0134 | AFR | ESN | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02970 | hp2 | a0001 | c0001 | t0001 | g0119 | AFR | ESN | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG03017 | hp1 | a0001 | c0001 | t0001 | g0033 | SAS | PJL | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG03017 | hp2 | a0001 | c0001 | t0001 | g0142 | SAS | PJL | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG03098 | hp1 | a0001 | c0001 | t0001 | g0123 | AFR | MSL | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG03098 | hp2 | a0001 | c0001 | t0005 | g0066 | AFR | MSL | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG03130 | hp1 | a0001 | c0003 | t0001 | g0188 | AFR | ESN | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG03130 | hp2 | a0001 | c0001 | t0001 | g0021 | AFR | ESN | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG03139 | hp1 | a0001 | c0001 | t0001 | g0065 | AFR | ESN | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG03139 | hp2 | a0001 | c0001 | t0001 | g0117 | AFR | ESN | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG03195 | hp1 | a0001 | c0001 | t0001 | g0077 | AFR | ESN | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG03195 | hp2 | a0001 | c0001 | t0001 | g0017 | AFR | ESN | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG03239 | hp1 | a0001 | c0001 | t0001 | g0029 | SAS | PJL | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG03239 | hp2 | a0001 | c0001 | t0001 | g0130 | SAS | PJL | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG03453 | hp1 | a0001 | c0001 | t0001 | g0183 | AFR | MSL | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG03453 | hp2 | a0001 | c0001 | t0001 | g0181 | AFR | MSL | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG03490 | hp1 | a0001 | c0001 | t0001 | g0030 | SAS | PJL | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG03490 | hp2 | a0002 | c0002 | t0001 | g0010 | SAS | PJL | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG03491 | hp1 | a0001 | c0001 | t0001 | g0170 | SAS | PJL | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG03491 | hp2 | a0001 | c0001 | t0001 | g0022 | SAS | PJL | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG03492 | hp1 | a0001 | c0001 | t0001 | g0023 | SAS | PJL | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG03492 | hp2 | a0002 | c0002 | t0001 | g0009 | SAS | PJL | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG03540 | hp1 | a0001 | c0001 | t0001 | g0067 | AFR | GWD | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG03540 | hp2 | a0001 | c0003 | t0001 | g0191 | AFR | GWD | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG03704 | hp1 | a0001 | c0001 | t0002 | g0091 | SAS | PJL | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG03704 | hp2 | a0001 | c0010 | t0001 | g0155 | SAS | PJL | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG03710 | hp1 | a0001 | c0001 | t0002 | g0176 | SAS | PJL | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG03710 | hp2 | a0001 | c0001 | t0001 | g0173 | SAS | PJL | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG03831 | hp1 | a0001 | c0001 | t0001 | g0034 | SAS | BEB | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG03831 | hp2 | a0002 | c0002 | t0001 | g0004 | SAS | BEB | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG03927 | hp1 | a0001 | c0001 | t0001 | g0169 | SAS | BEB | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG03927 | hp2 | a0001 | c0001 | t0001 | g0042 | SAS | BEB | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG04228 | hp1 | a0001 | c0001 | t0001 | g0040 | SAS | STU | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG04228 | hp2 | a0001 | c0001 | t0001 | g0193 | SAS | STU | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0006 | EAS | CHB | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA18612 | hp2 | a0002 | c0002 | t0001 | g0131 | EAS | CHB | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA18747 | hp1 | a0001 | c0001 | t0001 | g0150 | EAS | CHB | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA18747 | hp2 | a0001 | c0001 | t0001 | g0049 | EAS | CHB | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA18906 | hp1 | a0001 | c0003 | t0001 | g0190 | AFR | YRI | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA18906 | hp2 | a0001 | c0001 | t0001 | g0184 | AFR | YRI | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA18951 | hp1 | a0001 | c0001 | t0002 | g0081 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA18951 | hp2 | a0001 | c0001 | t0001 | g0127 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA18952 | hp1 | a0001 | c0001 | t0001 | g0192 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA18952 | hp2 | a0001 | c0001 | t0001 | g0059 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA18954 | hp1 | a0002 | c0002 | t0001 | g0008 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA18954 | hp2 | a0001 | c0001 | t0002 | g0084 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA18960 | hp1 | a0001 | c0001 | t0001 | g0106 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA18960 | hp2 | a0001 | c0001 | t0002 | g0168 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA18962 | hp1 | a0001 | c0001 | t0001 | g0055 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA18962 | hp2 | a0001 | c0001 | t0001 | g0156 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA18963 | hp1 | a0001 | c0001 | t0001 | g0108 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA18963 | hp2 | a0001 | c0001 | t0002 | g0143 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA18972 | hp1 | a0001 | c0001 | t0001 | g0045 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA18972 | hp2 | a0001 | c0001 | t0001 | g0161 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA18984 | hp1 | a0001 | c0001 | t0002 | g0080 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA18984 | hp2 | a0001 | c0001 | t0001 | g0060 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA18989 | hp1 | a0001 | c0001 | t0001 | g0162 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA18989 | hp2 | a0001 | c0001 | t0002 | g0095 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA18992 | hp1 | a0001 | c0001 | t0001 | g0158 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA18992 | hp2 | a0001 | c0001 | t0002 | g0109 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA18995 | hp1 | a0002 | c0002 | t0001 | g0011 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA18995 | hp2 | a0001 | c0001 | t0001 | g0052 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA18998 | hp1 | a0001 | c0001 | t0002 | g0082 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA18998 | hp2 | a0001 | c0001 | t0001 | g0140 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA18999 | hp1 | a0001 | c0001 | t0001 | g0129 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA18999 | hp2 | a0001 | c0001 | t0001 | g0048 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA19005 | hp1 | a0001 | c0001 | t0001 | g0054 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA19005 | hp2 | a0001 | c0001 | t0001 | g0180 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA19009 | hp1 | a0001 | c0001 | t0001 | g0046 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA19009 | hp2 | a0001 | c0001 | t0001 | g0148 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA19010 | hp1 | a0001 | c0001 | t0001 | g0153 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA19010 | hp2 | a0001 | c0001 | t0001 | g0027 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA19012 | hp1 | a0001 | c0001 | t0001 | g0047 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA19012 | hp2 | a0001 | c0001 | t0002 | g0093 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA19043 | hp1 | a0001 | c0008 | t0001 | g0076 | AFR | LWK | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA19043 | hp2 | a0001 | c0001 | t0001 | g0016 | AFR | LWK | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA19057 | hp1 | a0001 | c0001 | t0001 | g0141 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA19057 | hp2 | a0001 | c0001 | t0001 | g0051 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA19065 | hp1 | a0001 | c0001 | t0002 | g0110 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA19065 | hp2 | a0001 | c0001 | t0001 | g0154 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA19068 | hp1 | a0001 | c0001 | t0002 | g0107 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA19068 | hp2 | a0001 | c0001 | t0001 | g0137 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA19077 | hp1 | a0001 | c0001 | t0001 | g0122 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA19077 | hp2 | a0002 | c0002 | t0001 | g0012 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA19079 | hp1 | a0001 | c0001 | t0002 | g0085 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA19079 | hp2 | a0001 | c0001 | t0001 | g0128 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA19240 | hp1 | a0001 | c0003 | t0001 | g0187 | AFR | YRI | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA19240 | hp2 | a0001 | c0001 | t0001 | g0062 | AFR | YRI | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0056 | EUR | TSI | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA20752 | hp2 | a0001 | c0001 | t0001 | g0172 | EUR | TSI | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA20805 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | TSI | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA20805 | hp2 | a0001 | c0001 | t0002 | g0099 | EUR | TSI | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG01123 | hp1 | a0002 | c0002 | t0001 | g0013 | AMR | CLM | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG01123 | hp2 | a0001 | c0001 | t0001 | g0179 | AMR | CLM | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02109 | hp1 | a0001 | c0001 | t0001 | g0057 | AFR | ACB | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02109 | hp2 | a0001 | c0001 | t0001 | g0063 | AFR | ACB | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02559 | hp1 | a0001 | c0001 | t0001 | g0133 | AFR | ACB | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG02559 | hp2 | a0001 | c0001 | t0001 | g0064 | AFR | ACB | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG03471 | hp1 | a0001 | c0001 | t0001 | g0044 | AFR | MSL | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| HG03471 | hp2 | a0001 | c0001 | t0001 | g0135 | AFR | MSL | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA18955 | hp1 | a0001 | c0001 | t0002 | g0083 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA18955 | hp2 | a0001 | c0001 | t0001 | g0058 | EAS | JPT | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA20300 | hp1 | a0001 | c0004 | t0003 | g0114 | AFR | USA | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| NA20300 | hp2 | a0001 | c0003 | t0001 | g0186 | AFR | USA | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0001 | g0068 | REF | REF | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0001 | g0151 | REF | REF | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:62949004 | A | C | 2 | a0002 a0004 |
14 | HG00438.hp1 HG01123.hp1 HG01243.hp2 others(11): Show |
missense_variant | MODERATE | c.2158A>C | p.Lys720Gln | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 13/23 | 2793/5105 | 2158/3483 | 720/1160 | chr2 | 62949004 | |||
| chr2:62955617 | A | G | 1 | a0004 | 1 | HG01243.hp2 | missense_variant | MODERATE | c.2417A>G | p.Asn806Ser | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/23 | 3052/5105 | 2417/3483 | 806/1160 | chr2 | 62955617 | |||
| chr2:62993927 | G | T | 1 | a0003 | 2 | HG01070.hp2 HG01071.hp1 |
missense_variant | MODERATE | c.2929G>T | p.Ala977Ser | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 18/23 | 3564/5105 | 2929/3483 | 977/1160 | chr2 | 62993927 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:62771350 | G | A | 1 | a0001c0006 | 1 | HG00738.hp1 | synonymous_variant | LOW | c.270G>A | p.Ala90Ala | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/23 | 905/5105 | 270/3483 | 90/1160 | chr2 | 62771350 | |||
| chr2:62831106 | A | G | 1 | a0001c0010 | 1 | HG03704.hp2 | synonymous_variant | LOW | c.582A>G | p.Glu194Glu | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/23 | 1217/5105 | 582/3483 | 194/1160 | chr2 | 62831106 | |||
| chr2:62874514 | T | C | 1 | a0001c0003 | 6 | HG02717.hp2 HG03130.hp1 HG03540.hp2 others(3): Show |
synonymous_variant | LOW | c.1167T>C | p.Asp389Asp | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/23 | 1802/5105 | 1167/3483 | 389/1160 | chr2 | 62874514 | |||
| chr2:62942840 | G | A | 1 | a0001c0007 | 1 | HG01070.hp1 | synonymous_variant | LOW | c.1308G>A | p.Ser436Ser | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 11/23 | 1943/5105 | 1308/3483 | 436/1160 | chr2 | 62942840 | |||
| chr2:62948940 | G | A | 1 | a0001c0008 | 1 | NA19043.hp1 | synonymous_variant | LOW | c.2094G>A | p.Glu698Glu | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 13/23 | 2729/5105 | 2094/3483 | 698/1160 | chr2 | 62948940 | |||
| chr2:62996666 | G | A | 1 | a0001c0004 | 4 | HG01167.hp2 HG02280.hp2 HG02809.hp2 others(1): Show |
synonymous_variant | LOW | c.3003G>A | p.Gln1001Gln | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/23 | 3638/5105 | 3003/3483 | 1001/1160 | chr2 | 62996666 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:63045589 | T | C | 3 | a0001c0001t0002 a0001c0001t0004 a0001c0007t0002 |
35 | HG00544.hp2 HG00558.hp1 HG00639.hp2 others(32): Show |
3_prime_UTR_variant | MODIFIER | c.*89T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 23/23 | 89 | chr2 | 63045589 | ||||||
| chr2:63045656 | T | G | 1 | a0001c0001t0005 | 1 | HG03098.hp2 | 3_prime_UTR_variant | MODIFIER | c.*156T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 23/23 | 156 | chr2 | 63045656 | ||||||
| chr2:63046059 | T | C | 1 | a0001c0004t0003 | 2 | HG02280.hp2 NA20300.hp1 |
3_prime_UTR_variant | MODIFIER | c.*559T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 23/23 | 559 | chr2 | 63046059 | ||||||
| chr2:63046061 | G | A | 1 | a0001c0001t0004 | 1 | HG02015.hp2 | 3_prime_UTR_variant | MODIFIER | c.*561G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 23/23 | 561 | chr2 | 63046061 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:62706277 | C | T | 2 | a0001c0001t0001g0198 a0004c0009t0001g0197 |
2 | HG01243.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.-296+225C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 1/22 | chr2 | 62706277 | |||||||
| chr2:62706568 | C | G | 1 | a0001c0001t0001g0196 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.-295-329C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 1/22 | chr2 | 62706568 | |||||||
| chr2:62707483 | T | TA | 3 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | HG01256.hp1 HG01258.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.104+188_104+189ins others(1): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62707483 | |||||||
| chr2:62707543 | A | G | 1 | a0002c0002t0001g0195 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.104+248A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62707543 | |||||||
| chr2:62707615 | A | G | 1 | a0001c0001t0001g0194 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.104+320A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62707615 | |||||||
| chr2:62707830 | T | C | 11 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0002c0002t0001g0004 others(8): Show |
11 | HG00438.hp1 HG01123.hp1 HG01361.hp1 others(8): Show |
intron_variant | MODIFIER | c.104+535T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62707830 | |||||||
| chr2:62708402 | A | G | 1 | a0001c0001t0001g0193 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.104+1107A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62708402 | |||||||
| chr2:62708872 | G | A | 1 | a0001c0001t0001g0015 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.104+1577G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62708872 | |||||||
| chr2:62708904 | T | G | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.104+1609T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62708904 | |||||||
| chr2:62708935 | GAGTC | G | 11 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0002c0002t0001g0004 others(8): Show |
11 | HG00438.hp1 HG01123.hp1 HG01361.hp1 others(8): Show |
intron_variant | MODIFIER | c.104+1643_104+1646d others(6): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62708935 | ||||||
| chr2:62709029 | T | C | 6 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(3): Show |
6 | HG01884.hp2 HG02818.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.104+1734T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62709029 | |||||||
| chr2:62709305 | A | G | 1 | a0001c0001t0001g0192 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.104+2010A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62709305 | |||||||
| chr2:62709310 | A | G | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.104+2015A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62709310 | |||||||
| chr2:62709319 | G | A | 21 | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 others(18): Show |
21 | HG00099.hp2 HG00280.hp2 HG00738.hp2 others(18): Show |
intron_variant | MODIFIER | c.104+2024G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62709319 | |||||||
| chr2:62709356 | GT | G | 2 | a0001c0001t0001g0043 a0001c0001t0001g0044 |
2 | HG02809.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.104+2062delT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62709356 | |||||||
| chr2:62709826 | T | C | 35 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(32): Show |
35 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(32): Show |
intron_variant | MODIFIER | c.104+2531T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62709826 | |||||||
| chr2:62709834 | C | G | 1 | a0001c0003t0001g0191 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.104+2539C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62709834 | |||||||
| chr2:62709888 | T | C | 1 | a0001c0001t0001g0057 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.104+2593T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62709888 | |||||||
| chr2:62709945 | T | C | 3 | a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 |
3 | NA18952.hp2 NA18955.hp2 NA18984.hp2 |
intron_variant | MODIFIER | c.104+2650T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62709945 | |||||||
| chr2:62710082 | T | C | 7 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(4): Show |
7 | HG02109.hp2 HG02280.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.104+2787T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62710082 | |||||||
| chr2:62710296 | A | G | 6 | a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0188 others(3): Show |
6 | HG02717.hp2 HG03130.hp1 HG03540.hp2 others(3): Show |
intron_variant | MODIFIER | c.104+3001A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62710296 | |||||||
| chr2:62710423 | G | A | 8 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(5): Show |
8 | HG01243.hp2 HG02109.hp2 HG02280.hp1 others(5): Show |
intron_variant | MODIFIER | c.104+3128G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62710423 | |||||||
| chr2:62710487 | A | C | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.104+3192A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62710487 | |||||||
| chr2:62710803 | A | G | 2 | a0001c0001t0001g0198 a0004c0009t0001g0197 |
2 | HG01243.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.104+3508A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62710803 | |||||||
| chr2:62710807 | A | G | 1 | a0001c0001t0001g0185 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.104+3512A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62710807 | |||||||
| chr2:62711143 | T | G | 13 | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 others(10): Show |
13 | HG00642.hp1 HG01261.hp1 HG01361.hp2 others(10): Show |
intron_variant | MODIFIER | c.104+3848T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62711143 | |||||||
| chr2:62711722 | T | C | 2 | a0001c0001t0001g0016 a0001c0001t0001g0017 |
2 | HG03195.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.104+4427T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62711722 | |||||||
| chr2:62712043 | T | C | 2 | a0001c0001t0001g0198 a0004c0009t0001g0197 |
2 | HG01243.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.104+4748T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62712043 | |||||||
| chr2:62712098 | A | C | 2 | a0001c0001t0001g0198 a0004c0009t0001g0197 |
2 | HG01243.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.104+4803A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62712098 | |||||||
| chr2:62712104 | T | C | 4 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show |
4 | HG02258.hp2 HG02717.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.104+4809T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62712104 | |||||||
| chr2:62712182 | G | A | 1 | a0002c0002t0001g0004 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.104+4887G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62712182 | |||||||
| chr2:62712262 | G | A | 79 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(76): Show |
79 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(76): Show |
intron_variant | MODIFIER | c.104+4967G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62712262 | |||||||
| chr2:62712303 | A | G | 2 | a0001c0001t0001g0198 a0004c0009t0001g0197 |
2 | HG01243.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.104+5008A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62712303 | |||||||
| chr2:62712727 | G | A | 1 | a0001c0001t0001g0123 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.104+5432G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62712727 | |||||||
| chr2:62712793 | G | T | 1 | a0001c0001t0001g0184 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.104+5498G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62712793 | |||||||
| chr2:62712916 | A | G | 1 | a0001c0001t0001g0042 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.104+5621A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62712916 | |||||||
| chr2:62712990 | A | G | 2 | a0001c0001t0001g0198 a0004c0009t0001g0197 |
2 | HG01243.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.104+5695A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62712990 | |||||||
| chr2:62713090 | A | G | 1 | a0001c0001t0001g0122 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.104+5795A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62713090 | |||||||
| chr2:62713176 | A | G | 1 | a0001c0001t0001g0198 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.104+5881A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62713176 | |||||||
| chr2:62713253 | CT | C | 26 | a0001c0001t0001g0098 a0001c0001t0001g0122 a0001c0001t0001g0124 others(23): Show |
26 | HG00544.hp2 HG00558.hp1 HG00639.hp2 others(23): Show |
intron_variant | MODIFIER | c.104+5975delT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62713253 | ||||||
| chr2:62713457 | T | G | 8 | a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0002g0103 others(5): Show |
8 | HG01257.hp2 HG01258.hp2 HG02293.hp1 others(5): Show |
intron_variant | MODIFIER | c.104+6162T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62713457 | |||||||
| chr2:62713845 | T | A | 7 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(4): Show |
7 | HG02109.hp2 HG02280.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.104+6550T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62713845 | |||||||
| chr2:62714146 | G | A | 1 | a0001c0003t0001g0191 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.104+6851G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62714146 | |||||||
| chr2:62714290 | C | G | 1 | a0002c0002t0001g0014 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.104+6995C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62714290 | |||||||
| chr2:62714363 | T | G | 2 | a0001c0001t0001g0198 a0004c0009t0001g0197 |
2 | HG01243.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.104+7068T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62714363 | |||||||
| chr2:62714528 | A | T | 1 | a0002c0002t0001g0195 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.104+7233A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62714528 | |||||||
| chr2:62715452 | T | G | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.104+8157T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62715452 | |||||||
| chr2:62715705 | C | T | 83 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(80): Show |
83 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(80): Show |
intron_variant | MODIFIER | c.104+8410C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62715705 | |||||||
| chr2:62715847 | G | A | 2 | a0001c0004t0003g0114 a0001c0004t0003g0115 |
2 | HG02280.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.104+8552G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62715847 | |||||||
| chr2:62715927 | A | G | 9 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(6): Show |
9 | HG01243.hp2 HG02109.hp2 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.104+8632A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62715927 | |||||||
| chr2:62715948 | C | T | 2 | a0001c0001t0001g0057 a0001c0001t0001g0183 |
2 | HG02109.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.104+8653C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62715948 | |||||||
| chr2:62716189 | C | T | 1 | a0001c0001t0001g0182 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.104+8894C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62716189 | |||||||
| chr2:62716555 | C | T | 1 | a0001c0001t0001g0181 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.104+9260C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62716555 | |||||||
| chr2:62716667 | G | A | 1 | a0002c0002t0001g0125 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.104+9372G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62716667 | |||||||
| chr2:62717006 | G | A | 3 | a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0185 |
3 | HG02818.hp1 HG02886.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.104+9711G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62717006 | |||||||
| chr2:62717417 | A | G | 1 | a0001c0001t0001g0180 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.104+10122A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62717417 | |||||||
| chr2:62717687 | C | T | 1 | a0001c0001t0001g0041 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.104+10392C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62717687 | |||||||
| chr2:62717862 | T | TA | 2 | a0001c0001t0001g0022 a0001c0001t0001g0023 |
2 | HG03491.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.104+10568dupA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62717862 | ||||||
| chr2:62718132 | A | T | 1 | a0001c0001t0001g0040 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.104+10837A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62718132 | |||||||
| chr2:62718570 | G | T | 2 | a0001c0001t0001g0043 a0001c0001t0001g0044 |
2 | HG02809.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.104+11275G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62718570 | |||||||
| chr2:62718801 | T | C | 3 | a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0185 |
3 | HG02818.hp1 HG02886.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.104+11506T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62718801 | |||||||
| chr2:62718847 | G | A | 9 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(6): Show |
9 | HG01243.hp2 HG02109.hp2 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.104+11552G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62718847 | |||||||
| chr2:62718954 | T | G | 2 | a0001c0001t0001g0198 a0004c0009t0001g0197 |
2 | HG01243.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.104+11659T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62718954 | |||||||
| chr2:62718979 | AT | A | 5 | a0001c0001t0001g0058 a0001c0001t0002g0080 a0001c0001t0002g0081 others(2): Show |
5 | HG01167.hp2 HG01243.hp2 NA18951.hp1 others(2): Show |
intron_variant | MODIFIER | c.104+11703delT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62718979 | ||||||
| chr2:62719181 | G | A | 1 | a0001c0001t0001g0043 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.104+11886G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62719181 | |||||||
| chr2:62719509 | A | C | 3 | a0001c0001t0001g0124 a0001c0001t0001g0178 a0001c0001t0001g0179 |
3 | HG01123.hp2 HG01167.hp1 HG02293.hp2 |
intron_variant | MODIFIER | c.104+12214A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62719509 | |||||||
| chr2:62719523 | A | G | 74 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(71): Show |
74 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(71): Show |
intron_variant | MODIFIER | c.104+12228A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62719523 | |||||||
| chr2:62719742 | A | G | 1 | a0001c0001t0001g0177 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.104+12447A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62719742 | |||||||
| chr2:62720032 | G | C | 1 | a0001c0001t0001g0061 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.104+12737G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62720032 | |||||||
| chr2:62720342 | G | A | 4 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show |
4 | HG02258.hp2 HG02717.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.104+13047G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62720342 | |||||||
| chr2:62720765 | C | T | 2 | a0001c0001t0001g0043 a0001c0001t0001g0044 |
2 | HG02809.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.104+13470C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62720765 | |||||||
| chr2:62720809 | C | G | 1 | a0001c0001t0002g0176 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.104+13514C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62720809 | |||||||
| chr2:62720823 | T | C | 4 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(1): Show |
4 | HG01884.hp2 HG02818.hp2 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.104+13528T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62720823 | |||||||
| chr2:62721026 | AG | A | 82 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(79): Show |
82 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(79): Show |
intron_variant | MODIFIER | c.104+13733delG | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62721026 | ||||||
| chr2:62721587 | G | C | 9 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(6): Show |
9 | HG01243.hp2 HG02109.hp2 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.104+14292G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62721587 | |||||||
| chr2:62721602 | T | G | 1 | a0001c0001t0001g0126 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.104+14307T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62721602 | |||||||
| chr2:62721705 | A | G | 2 | a0001c0001t0001g0198 a0004c0009t0001g0197 |
2 | HG01243.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.104+14410A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62721705 | |||||||
| chr2:62721825 | A | G | 1 | a0001c0001t0001g0175 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.104+14530A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62721825 | |||||||
| chr2:62721979 | A | G | 1 | a0001c0001t0001g0067 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.104+14684A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62721979 | |||||||
| chr2:62722012 | T | A | 1 | a0001c0001t0001g0127 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.104+14717T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62722012 | |||||||
| chr2:62722248 | C | T | 1 | a0001c0001t0001g0174 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.104+14953C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62722248 | |||||||
| chr2:62722352 | C | T | 1 | a0001c0001t0001g0038 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.104+15057C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62722352 | |||||||
| chr2:62722433 | AT | A | 7 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(4): Show |
7 | HG01256.hp1 HG01256.hp2 HG01258.hp1 others(4): Show |
intron_variant | MODIFIER | c.104+15151delT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62722433 | ||||||
| chr2:62722818 | G | A | 1 | a0001c0001t0002g0080 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.104+15523G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62722818 | |||||||
| chr2:62723136 | C | T | 2 | a0001c0001t0001g0116 a0001c0001t0001g0117 |
2 | HG02818.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.104+15841C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62723136 | |||||||
| chr2:62723200 | C | T | 7 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(4): Show |
7 | HG02109.hp2 HG02280.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.104+15905C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62723200 | |||||||
| chr2:62723300 | A | G | 35 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(32): Show |
35 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(32): Show |
intron_variant | MODIFIER | c.104+16005A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62723300 | |||||||
| chr2:62723428 | T | G | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.104+16133T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62723428 | |||||||
| chr2:62723850 | A | G | 1 | a0001c0001t0002g0102 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.104+16555A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62723850 | |||||||
| chr2:62724023 | G | T | 1 | a0001c0001t0001g0038 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.104+16728G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62724023 | |||||||
| chr2:62724082 | A | T | 1 | a0001c0004t0001g0121 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.104+16787A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62724082 | |||||||
| chr2:62724801 | C | T | 2 | a0001c0001t0001g0043 a0001c0001t0001g0044 |
2 | HG02809.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.104+17506C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62724801 | |||||||
| chr2:62724860 | T | A | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.104+17565T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62724860 | |||||||
| chr2:62725054 | G | A | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.104+17759G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62725054 | |||||||
| chr2:62725249 | TTGTGCCT others(8): Show |
T | 1 | a0001c0001t0001g0025 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.104+17962_104+1797 others(19): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62725249 | ||||||
| chr2:62725337 | A | G | 1 | a0001c0001t0001g0179 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.104+18042A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62725337 | |||||||
| chr2:62725539 | C | T | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.104+18244C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62725539 | |||||||
| chr2:62725805 | G | T | 1 | a0001c0001t0002g0101 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.104+18510G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62725805 | |||||||
| chr2:62726031 | G | A | 93 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(90): Show |
93 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(90): Show |
intron_variant | MODIFIER | c.104+18736G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62726031 | |||||||
| chr2:62726641 | A | G | 1 | a0001c0001t0001g0173 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.104+19346A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62726641 | |||||||
| chr2:62726775 | C | T | 17 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(14): Show |
17 | HG00099.hp1 HG00639.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.104+19480C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62726775 | |||||||
| chr2:62726974 | T | G | 2 | a0001c0001t0001g0122 a0001c0001t0002g0080 |
2 | NA18984.hp1 NA19077.hp1 |
intron_variant | MODIFIER | c.104+19679T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62726974 | |||||||
| chr2:62726982 | C | T | 1 | a0001c0001t0001g0044 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.104+19687C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62726982 | |||||||
| chr2:62727023 | C | T | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.104+19728C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62727023 | |||||||
| chr2:62727157 | G | A | 1 | a0001c0001t0001g0043 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.104+19862G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62727157 | |||||||
| chr2:62727178 | A | G | 1 | a0001c0001t0001g0173 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.104+19883A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62727178 | |||||||
| chr2:62727191 | C | T | 76 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(73): Show |
76 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(73): Show |
intron_variant | MODIFIER | c.104+19896C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62727191 | |||||||
| chr2:62727575 | G | A | 2 | a0001c0001t0001g0128 a0001c0001t0001g0129 |
2 | NA18999.hp1 NA19079.hp2 |
intron_variant | MODIFIER | c.105-19820G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62727575 | |||||||
| chr2:62727609 | A | T | 1 | a0001c0001t0001g0159 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.105-19786A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62727609 | |||||||
| chr2:62727791 | C | T | 1 | a0001c0001t0002g0110 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.105-19604C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62727791 | |||||||
| chr2:62727804 | T | C | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.105-19591T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62727804 | |||||||
| chr2:62727837 | T | G | 1 | a0001c0003t0001g0191 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.105-19558T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62727837 | |||||||
| chr2:62728221 | C | T | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.105-19174C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62728221 | |||||||
| chr2:62728227 | AG | A | 13 | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 others(10): Show |
13 | HG00642.hp1 HG01261.hp1 HG01361.hp2 others(10): Show |
intron_variant | MODIFIER | c.105-19166delG | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62728227 | ||||||
| chr2:62728252 | A | G | 78 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(75): Show |
78 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(75): Show |
intron_variant | MODIFIER | c.105-19143A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62728252 | |||||||
| chr2:62728421 | A | C | 1 | a0001c0001t0002g0102 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.105-18974A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62728421 | |||||||
| chr2:62728441 | T | C | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.105-18954T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62728441 | |||||||
| chr2:62728730 | T | A | 1 | a0001c0001t0001g0130 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.105-18665T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62728730 | |||||||
| chr2:62728742 | A | G | 1 | a0001c0001t0001g0198 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.105-18653A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62728742 | |||||||
| chr2:62728804 | GTTGTGCC others(69): Show |
G | 1 | a0001c0001t0001g0158 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.105-18588_105-1851 others(80): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62728804 | ||||||
| chr2:62729385 | C | A | 93 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(90): Show |
93 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(90): Show |
intron_variant | MODIFIER | c.105-18010C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62729385 | |||||||
| chr2:62729390 | T | A | 93 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(90): Show |
93 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(90): Show |
intron_variant | MODIFIER | c.105-18005T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62729390 | |||||||
| chr2:62729432 | A | AATAATAA others(2): Show |
93 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(90): Show |
93 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(90): Show |
intron_variant | MODIFIER | c.105-17955_105-1794 others(13): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62729432 | ||||||
| chr2:62729466 | A | C | 1 | a0001c0001t0001g0196 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.105-17929A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62729466 | |||||||
| chr2:62729514 | A | AATATAAT others(2): Show |
106 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(103): Show |
106 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(103): Show |
intron_variant | MODIFIER | c.105-17880_105-1787 others(13): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62729514 | ||||||
| chr2:62729525 | T | A | 1 | a0001c0001t0001g0126 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.105-17870T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62729525 | |||||||
| chr2:62729528 | A | G | 1 | a0001c0001t0005g0066 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.105-17867A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62729528 | |||||||
| chr2:62729597 | TA | T | 7 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(4): Show |
7 | HG02109.hp2 HG02280.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.105-17796delA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62729597 | ||||||
| chr2:62729615 | TAAATA | T | 3 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 |
3 | HG02040.hp2 NA19010.hp1 NA19065.hp2 |
intron_variant | MODIFIER | c.105-17758_105-1775 others(9): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62729615 | ||||||
| chr2:62729615 | TAAATAAA others(3): Show |
T | 6 | a0001c0001t0001g0127 a0001c0001t0001g0156 a0001c0001t0001g0157 others(3): Show |
6 | HG00280.hp1 HG02155.hp1 HG03704.hp2 others(3): Show |
intron_variant | MODIFIER | c.105-17763_105-1775 others(14): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62729615 | ||||||
| chr2:62729637 | A | T | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.105-17758A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62729637 | |||||||
| chr2:62729783 | A | G | 1 | a0001c0003t0001g0190 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.105-17612A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62729783 | |||||||
| chr2:62729918 | T | C | 2 | a0001c0001t0001g0198 a0004c0009t0001g0197 |
2 | HG01243.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.105-17477T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62729918 | |||||||
| chr2:62730106 | T | C | 2 | a0001c0001t0001g0018 a0001c0001t0001g0019 |
2 | HG02818.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.105-17289T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62730106 | |||||||
| chr2:62730141 | G | T | 2 | a0001c0001t0001g0043 a0001c0001t0001g0044 |
2 | HG02809.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.105-17254G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62730141 | |||||||
| chr2:62730203 | C | T | 1 | a0001c0001t0001g0075 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.105-17192C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62730203 | |||||||
| chr2:62730771 | C | CAGAT | 94 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(91): Show |
94 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(91): Show |
intron_variant | MODIFIER | c.105-16623_105-1662 others(8): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730771 | ||||||
| chr2:62730841 | C | T | 1 | a0001c0001t0002g0102 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.105-16554C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62730841 | |||||||
| chr2:62730862 | G | GCAGACAG others(762): Show |
2 | a0001c0001t0001g0057 a0001c0001t0001g0183 |
2 | HG02109.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.105-16526_105-1652 others(773): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(758): Show |
1 | a0001c0001t0001g0158 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.105-16526_105-1652 others(769): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(734): Show |
1 | a0001c0001t0001g0026 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.105-16526_105-1652 others(745): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(732): Show |
1 | a0001c0001t0001g0038 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.105-16526_105-1652 others(743): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(738): Show |
29 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(26): Show |
29 | HG00280.hp2 HG00438.hp2 HG00621.hp2 others(26): Show |
intron_variant | MODIFIER | c.105-16526_105-1652 others(749): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(740): Show |
3 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 |
3 | NA18972.hp1 NA19009.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.105-16526_105-1652 others(751): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(738): Show |
2 | a0001c0001t0001g0035 a0001c0001t0001g0036 |
2 | HG01884.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.105-16526_105-1652 others(749): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(752): Show |
1 | a0001c0001t0001g0063 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.105-16526_105-1652 others(763): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(742): Show |
12 | a0001c0001t0001g0098 a0001c0001t0002g0081 a0001c0001t0002g0090 others(9): Show |
12 | HG00544.hp2 HG00639.hp2 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.105-16526_105-1652 others(753): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(744): Show |
17 | a0001c0001t0001g0122 a0001c0001t0002g0082 a0001c0001t0002g0083 others(14): Show |
17 | HG00558.hp1 HG01071.hp2 HG01243.hp1 others(14): Show |
intron_variant | MODIFIER | c.105-16526_105-1652 others(755): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(746): Show |
1 | a0001c0001t0002g0080 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.105-16526_105-1652 others(757): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(744): Show |
3 | a0001c0001t0001g0108 a0001c0001t0002g0107 a0001c0001t0002g0109 |
3 | NA18963.hp1 NA18992.hp2 NA19068.hp1 |
intron_variant | MODIFIER | c.105-16526_105-1652 others(755): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(746): Show |
1 | a0001c0001t0001g0106 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.105-16526_105-1652 others(757): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(746): Show |
2 | a0001c0004t0003g0114 a0001c0004t0003g0115 |
2 | HG02280.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.105-16526_105-1652 others(757): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(748): Show |
2 | a0001c0004t0001g0118 a0001c0004t0001g0121 |
2 | HG01167.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.105-16526_105-1652 others(759): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(750): Show |
2 | a0001c0001t0001g0044 a0001c0001t0001g0117 |
2 | HG03139.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.105-16526_105-1652 others(761): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(752): Show |
1 | a0001c0001t0001g0116 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.105-16526_105-1652 others(763): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(754): Show |
2 | a0001c0001t0001g0061 a0001c0001t0001g0077 |
2 | HG02280.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.105-16526_105-1652 others(765): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(756): Show |
2 | a0001c0001t0001g0067 a0001c0001t0005g0066 |
2 | HG03098.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.105-16526_105-1652 others(767): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(760): Show |
1 | a0001c0008t0001g0076 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.105-16526_105-1652 others(771): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(762): Show |
1 | a0001c0001t0001g0064 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.105-16526_105-1652 others(773): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(764): Show |
1 | a0001c0001t0001g0062 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.105-16526_105-1652 others(775): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(746): Show |
1 | a0001c0001t0001g0185 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.105-16526_105-1652 others(757): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(754): Show |
1 | a0001c0001t0001g0043 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.105-16526_105-1652 others(765): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(766): Show |
1 | a0001c0001t0001g0065 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.105-16526_105-1652 others(777): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(734): Show |
1 | a0001c0001t0002g0037 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.105-16526_105-1652 others(745): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(740): Show |
1 | a0001c0001t0002g0100 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.105-16526_105-1652 others(751): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(754): Show |
2 | a0001c0001t0001g0078 a0001c0001t0001g0079 |
2 | HG02258.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.105-16526_105-1652 others(765): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(758): Show |
1 | a0001c0001t0001g0174 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.105-16526_105-1652 others(769): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(752): Show |
1 | a0001c0001t0001g0173 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.105-16526_105-1652 others(763): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(754): Show |
3 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 |
3 | HG02818.hp2 HG02922.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.105-16526_105-1652 others(765): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(758): Show |
1 | a0001c0001t0001g0020 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.105-16526_105-1652 others(769): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(756): Show |
1 | a0001c0006t0001g0160 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.105-16526_105-1652 others(767): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(752): Show |
3 | a0001c0001t0001g0124 a0001c0001t0001g0178 a0001c0001t0001g0179 |
3 | HG01123.hp2 HG01167.hp1 HG02293.hp2 |
intron_variant | MODIFIER | c.105-16526_105-1652 others(763): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(750): Show |
1 | a0002c0002t0001g0005 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.105-16526_105-1652 others(761): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(752): Show |
1 | a0002c0002t0001g0131 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.105-16526_105-1652 others(763): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(760): Show |
2 | a0001c0001t0001g0171 a0001c0001t0001g0172 |
2 | HG01346.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.105-16526_105-1652 others(771): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(748): Show |
1 | a0001c0001t0001g0170 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.105-16526_105-1652 others(759): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(754): Show |
1 | a0001c0001t0001g0196 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.105-16526_105-1652 others(765): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(756): Show |
2 | a0001c0001t0001g0016 a0001c0001t0001g0017 |
2 | HG03195.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.105-16526_105-1652 others(767): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(758): Show |
30 | a0001c0001t0001g0006 a0001c0001t0001g0126 a0001c0001t0001g0130 others(27): Show |
30 | HG00544.hp1 HG00558.hp2 HG00621.hp1 others(27): Show |
intron_variant | MODIFIER | c.105-16526_105-1652 others(769): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(760): Show |
18 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(15): Show |
18 | HG00099.hp1 HG00639.hp1 HG01070.hp2 others(15): Show |
intron_variant | MODIFIER | c.105-16526_105-1652 others(771): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(762): Show |
2 | a0001c0001t0001g0161 a0001c0001t0001g0162 |
2 | NA18972.hp2 NA18989.hp1 |
intron_variant | MODIFIER | c.105-16526_105-1652 others(773): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(764): Show |
1 | a0001c0001t0001g0184 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.105-16526_105-1652 others(775): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(766): Show |
2 | a0001c0001t0001g0181 a0001c0001t0001g0194 |
2 | HG01074.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.105-16526_105-1652 others(777): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(758): Show |
2 | a0001c0001t0001g0128 a0001c0001t0001g0129 |
2 | NA18999.hp1 NA19079.hp2 |
intron_variant | MODIFIER | c.105-16526_105-1652 others(769): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(754): Show |
1 | a0001c0001t0001g0007 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.105-16526_105-1652 others(765): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(758): Show |
1 | a0001c0003t0001g0191 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.105-16526_105-1652 others(769): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(760): Show |
2 | a0001c0001t0001g0072 a0002c0002t0001g0195 |
2 | HG00642.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.105-16526_105-1652 others(771): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(762): Show |
12 | a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 others(9): Show |
12 | HG01261.hp1 HG01361.hp2 HG01515.hp2 others(9): Show |
intron_variant | MODIFIER | c.105-16526_105-1652 others(773): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(752): Show |
1 | a0002c0002t0001g0013 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.105-16526_105-1652 others(763): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(754): Show |
7 | a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0009 others(4): Show |
7 | HG01496.hp2 HG03490.hp2 HG03492.hp2 others(4): Show |
intron_variant | MODIFIER | c.105-16526_105-1652 others(765): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(762): Show |
1 | a0001c0001t0001g0073 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.105-16526_105-1652 others(773): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730862 | G | GCAGACAG others(768): Show |
1 | a0001c0001t0001g0074 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.105-16526_105-1652 others(779): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730862 | ||||||
| chr2:62730863 | C | CAGACAGA others(764): Show |
1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.105-16526_105-1652 others(775): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730863 | ||||||
| chr2:62730863 | C | CAGACAGA others(754): Show |
1 | a0001c0001t0001g0198 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.105-16526_105-1652 others(765): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730863 | ||||||
| chr2:62730870 | G | A | 85 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(82): Show |
85 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(82): Show |
intron_variant | MODIFIER | c.105-16525G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62730870 | |||||||
| chr2:62730920 | T | TAG | 12 | a0001c0001t0001g0007 a0002c0002t0001g0004 a0002c0002t0001g0005 others(9): Show |
12 | HG00438.hp1 HG01123.hp1 HG01361.hp1 others(9): Show |
intron_variant | MODIFIER | c.105-16465_105-1646 others(6): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62730920 | ||||||
| chr2:62731214 | A | G | 1 | a0001c0001t0001g0064 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.105-16181A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62731214 | |||||||
| chr2:62731402 | T | C | 1 | a0001c0001t0001g0137 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.105-15993T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62731402 | |||||||
| chr2:62732126 | C | T | 1 | a0001c0001t0001g0060 | 1 | NA18984.hp2 | intron_variant | MODIFIER | c.105-15269C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62732126 | |||||||
| chr2:62732173 | T | A | 85 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(82): Show |
85 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(82): Show |
intron_variant | MODIFIER | c.105-15222T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62732173 | |||||||
| chr2:62732470 | A | C | 4 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show |
4 | HG02258.hp2 HG02717.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.105-14925A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62732470 | |||||||
| chr2:62732830 | T | C | 1 | a0001c0001t0002g0101 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.105-14565T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62732830 | |||||||
| chr2:62732860 | T | C | 2 | a0001c0001t0001g0058 a0001c0001t0001g0059 |
2 | NA18952.hp2 NA18955.hp2 |
intron_variant | MODIFIER | c.105-14535T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62732860 | |||||||
| chr2:62733038 | A | G | 8 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(5): Show |
8 | HG02109.hp2 HG02280.hp1 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.105-14357A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62733038 | |||||||
| chr2:62733055 | T | C | 1 | a0001c0001t0001g0198 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.105-14340T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62733055 | |||||||
| chr2:62733098 | A | G | 2 | a0001c0001t0001g0198 a0004c0009t0001g0197 |
2 | HG01243.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.105-14297A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62733098 | |||||||
| chr2:62733174 | T | A | 1 | a0001c0001t0001g0027 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.105-14221T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62733174 | |||||||
| chr2:62733272 | G | T | 1 | a0001c0001t0001g0177 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.105-14123G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62733272 | |||||||
| chr2:62733370 | C | T | 1 | a0001c0001t0001g0174 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.105-14025C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62733370 | |||||||
| chr2:62733475 | A | G | 1 | a0001c0001t0001g0181 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.105-13920A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62733475 | |||||||
| chr2:62733989 | A | G | 1 | a0001c0001t0001g0061 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.105-13406A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62733989 | |||||||
| chr2:62734040 | T | A | 3 | a0001c0001t0001g0165 a0003c0005t0001g0163 a0003c0005t0001g0164 |
3 | HG01070.hp2 HG01071.hp1 HG01261.hp2 |
intron_variant | MODIFIER | c.105-13355T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62734040 | |||||||
| chr2:62734044 | G | A | 17 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(14): Show |
17 | HG00099.hp1 HG00639.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.105-13351G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62734044 | |||||||
| chr2:62734399 | C | CT | 28 | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 others(25): Show |
28 | HG00099.hp2 HG00280.hp2 HG00642.hp2 others(25): Show |
intron_variant | MODIFIER | c.105-12982dupT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62734399 | ||||||
| chr2:62734399 | CT | C | 5 | a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 others(2): Show |
5 | HG02109.hp2 HG02280.hp1 HG02559.hp2 others(2): Show |
intron_variant | MODIFIER | c.105-12982delT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62734399 | ||||||
| chr2:62734441 | T | A | 1 | a0001c0001t0002g0111 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.105-12954T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62734441 | |||||||
| chr2:62734442 | C | T | 1 | a0001c0001t0001g0056 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.105-12953C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62734442 | |||||||
| chr2:62734498 | A | G | 1 | a0001c0001t0001g0150 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.105-12897A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62734498 | |||||||
| chr2:62734615 | T | A | 6 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(3): Show |
6 | HG02109.hp2 HG02280.hp1 HG03098.hp2 others(3): Show |
intron_variant | MODIFIER | c.105-12780T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62734615 | |||||||
| chr2:62734747 | G | A | 37 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(34): Show |
37 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(34): Show |
intron_variant | MODIFIER | c.105-12648G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62734747 | |||||||
| chr2:62734763 | G | A | 4 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show |
4 | HG02258.hp2 HG02717.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.105-12632G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62734763 | |||||||
| chr2:62735269 | A | AT | 9 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(6): Show |
9 | HG01243.hp2 HG02015.hp2 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.105-12115dupT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62735269 | ||||||
| chr2:62735300 | C | T | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.105-12095C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62735300 | |||||||
| chr2:62736224 | C | CT | 19 | a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0001g0044 others(16): Show |
19 | HG00280.hp1 HG01167.hp2 HG02109.hp2 others(16): Show |
intron_variant | MODIFIER | c.105-11151dupT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62736224 | ||||||
| chr2:62736347 | C | T | 1 | a0001c0001t0001g0162 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.105-11048C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62736347 | |||||||
| chr2:62736457 | C | A | 1 | a0001c0001t0002g0090 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.105-10938C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62736457 | |||||||
| chr2:62736481 | C | T | 6 | a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0188 others(3): Show |
6 | HG02717.hp2 HG03130.hp1 HG03540.hp2 others(3): Show |
intron_variant | MODIFIER | c.105-10914C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62736481 | |||||||
| chr2:62737572 | G | A | 2 | a0001c0001t0001g0128 a0001c0001t0001g0129 |
2 | NA18999.hp1 NA19079.hp2 |
intron_variant | MODIFIER | c.105-9823G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62737572 | |||||||
| chr2:62738216 | A | G | 8 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(5): Show |
8 | HG02109.hp2 HG02280.hp1 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.105-9179A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62738216 | |||||||
| chr2:62738333 | C | T | 2 | a0001c0004t0001g0118 a0001c0004t0001g0121 |
2 | HG01167.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.105-9062C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62738333 | |||||||
| chr2:62738515 | G | C | 2 | a0001c0004t0003g0114 a0001c0004t0003g0115 |
2 | HG02280.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.105-8880G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62738515 | |||||||
| chr2:62738618 | T | C | 1 | a0001c0001t0001g0181 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.105-8777T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62738618 | |||||||
| chr2:62738733 | A | G | 3 | a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0002g0176 |
3 | HG03491.hp1 HG03710.hp1 HG03927.hp1 |
intron_variant | MODIFIER | c.105-8662A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62738733 | |||||||
| chr2:62738826 | T | A | 5 | a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0188 others(2): Show |
5 | HG02717.hp2 HG03130.hp1 NA18906.hp1 others(2): Show |
intron_variant | MODIFIER | c.105-8569T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62738826 | |||||||
| chr2:62738827 | C | A | 5 | a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0188 others(2): Show |
5 | HG02717.hp2 HG03130.hp1 NA18906.hp1 others(2): Show |
intron_variant | MODIFIER | c.105-8568C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62738827 | |||||||
| chr2:62739188 | T | C | 3 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0008t0001g0076 |
3 | HG02258.hp2 HG03195.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.105-8207T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62739188 | |||||||
| chr2:62739347 | A | G | 2 | a0001c0001t0002g0104 a0001c0001t0002g0105 |
2 | HG01257.hp2 HG01258.hp2 |
intron_variant | MODIFIER | c.105-8048A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62739347 | |||||||
| chr2:62739623 | T | C | 102 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(99): Show |
102 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(99): Show |
intron_variant | MODIFIER | c.105-7772T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62739623 | |||||||
| chr2:62739935 | GA | G | 93 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(90): Show |
93 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(90): Show |
intron_variant | MODIFIER | c.105-7442delA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62739935 | ||||||
| chr2:62740034 | C | T | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.105-7361C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62740034 | |||||||
| chr2:62740263 | A | G | 1 | a0001c0001t0001g0149 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.105-7132A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62740263 | |||||||
| chr2:62740483 | A | G | 1 | a0001c0001t0001g0127 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.105-6912A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62740483 | |||||||
| chr2:62740753 | T | G | 8 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(5): Show |
8 | HG02109.hp2 HG02280.hp1 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.105-6642T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62740753 | |||||||
| chr2:62741382 | A | G | 7 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(4): Show |
7 | HG02109.hp2 HG02280.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.105-6013A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62741382 | |||||||
| chr2:62741436 | T | C | 10 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(7): Show |
10 | HG01243.hp2 HG02109.hp2 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.105-5959T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62741436 | |||||||
| chr2:62741588 | G | C | 1 | a0001c0008t0001g0076 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.105-5807G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62741588 | |||||||
| chr2:62741845 | A | G | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.105-5550A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62741845 | |||||||
| chr2:62741980 | T | G | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.105-5415T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62741980 | |||||||
| chr2:62742076 | G | A | 1 | a0002c0002t0001g0195 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.105-5319G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62742076 | |||||||
| chr2:62742175 | G | C | 85 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(82): Show |
85 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(82): Show |
intron_variant | MODIFIER | c.105-5220G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62742175 | |||||||
| chr2:62742328 | A | G | 7 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(4): Show |
7 | HG02109.hp2 HG02280.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.105-5067A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62742328 | |||||||
| chr2:62742528 | A | G | 1 | a0001c0001t0002g0101 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.105-4867A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62742528 | |||||||
| chr2:62743095 | G | A | 1 | a0001c0001t0001g0126 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.105-4300G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62743095 | |||||||
| chr2:62743240 | T | C | 1 | a0001c0001t0001g0181 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.105-4155T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62743240 | |||||||
| chr2:62743262 | T | C | 1 | a0001c0001t0001g0185 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.105-4133T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62743262 | |||||||
| chr2:62743481 | A | G | 1 | a0001c0001t0001g0060 | 1 | NA18984.hp2 | intron_variant | MODIFIER | c.105-3914A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62743481 | |||||||
| chr2:62743810 | T | A | 1 | a0002c0002t0001g0008 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.105-3585T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62743810 | |||||||
| chr2:62743907 | G | T | 2 | a0002c0002t0001g0013 a0002c0002t0001g0014 |
2 | HG01123.hp1 HG01496.hp2 |
intron_variant | MODIFIER | c.105-3488G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62743907 | |||||||
| chr2:62744055 | C | T | 6 | a0001c0001t0001g0123 a0001c0001t0001g0133 a0001c0001t0001g0134 others(3): Show |
6 | HG02145.hp2 HG02559.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.105-3340C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62744055 | |||||||
| chr2:62744571 | T | C | 1 | a0001c0001t0002g0091 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.105-2824T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62744571 | |||||||
| chr2:62745038 | A | G | 1 | a0001c0001t0001g0064 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.105-2357A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62745038 | |||||||
| chr2:62745044 | C | A | 1 | a0001c0001t0001g0078 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.105-2351C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62745044 | |||||||
| chr2:62745133 | G | C | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.105-2262G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62745133 | |||||||
| chr2:62745383 | T | C | 2 | a0002c0002t0001g0009 a0002c0002t0001g0010 |
2 | HG03490.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.105-2012T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62745383 | |||||||
| chr2:62745411 | A | G | 2 | a0001c0001t0001g0116 a0001c0001t0001g0117 |
2 | HG02818.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.105-1984A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62745411 | |||||||
| chr2:62745497 | T | G | 2 | a0001c0001t0001g0016 a0001c0001t0001g0017 |
2 | HG03195.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.105-1898T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62745497 | |||||||
| chr2:62745509 | T | G | 8 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(5): Show |
8 | HG02109.hp2 HG02280.hp1 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.105-1886T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62745509 | |||||||
| chr2:62745522 | G | C | 3 | a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0185 |
3 | HG02818.hp1 HG02886.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.105-1873G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62745522 | |||||||
| chr2:62745976 | A | G | 1 | a0001c0001t0001g0042 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.105-1419A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62745976 | |||||||
| chr2:62746691 | T | TA | 2 | a0001c0001t0001g0198 a0004c0009t0001g0197 |
2 | HG01243.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.105-703dupA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | 62746691 | ||||||
| chr2:62747017 | C | G | 1 | a0001c0001t0001g0019 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.105-378C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62747017 | |||||||
| chr2:62747269 | C | T | 1 | a0001c0001t0001g0044 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.105-126C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62747269 | |||||||
| chr2:62747733 | C | T | 3 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0008t0001g0076 |
3 | HG02258.hp2 HG03195.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.162+281C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62747733 | |||||||
| chr2:62747978 | C | G | 1 | a0001c0001t0001g0173 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.162+526C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62747978 | |||||||
| chr2:62748315 | G | A | 1 | a0001c0001t0001g0166 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.162+863G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62748315 | |||||||
| chr2:62748832 | G | T | 2 | a0001c0001t0001g0116 a0001c0001t0001g0117 |
2 | HG02818.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.162+1380G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62748832 | |||||||
| chr2:62749048 | A | G | 1 | a0001c0001t0005g0066 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.162+1596A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62749048 | |||||||
| chr2:62749201 | G | C | 1 | a0001c0001t0001g0064 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.162+1749G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62749201 | |||||||
| chr2:62749206 | A | G | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.162+1754A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62749206 | |||||||
| chr2:62749597 | T | C | 1 | a0001c0001t0001g0152 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.162+2145T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62749597 | |||||||
| chr2:62749668 | T | C | 1 | a0001c0001t0001g0016 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.162+2216T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62749668 | |||||||
| chr2:62749764 | G | A | 1 | a0001c0001t0001g0078 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.162+2312G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62749764 | |||||||
| chr2:62749776 | G | A | 3 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0008t0001g0076 |
3 | HG02258.hp2 HG03195.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.162+2324G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62749776 | |||||||
| chr2:62749897 | A | G | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.162+2445A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62749897 | |||||||
| chr2:62749945 | C | T | 3 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 |
3 | HG02818.hp2 HG02922.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.162+2493C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62749945 | |||||||
| chr2:62749991 | A | G | 6 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0031 others(3): Show |
6 | HG00099.hp2 HG00280.hp2 HG00738.hp2 others(3): Show |
intron_variant | MODIFIER | c.162+2539A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62749991 | |||||||
| chr2:62750010 | G | T | 1 | a0002c0002t0001g0131 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.162+2558G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62750010 | |||||||
| chr2:62750143 | C | T | 1 | a0001c0004t0003g0115 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.162+2691C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62750143 | |||||||
| chr2:62750366 | A | G | 2 | a0001c0004t0003g0114 a0001c0004t0003g0115 |
2 | HG02280.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.162+2914A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62750366 | |||||||
| chr2:62750575 | G | A | 1 | a0002c0002t0001g0011 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.162+3123G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62750575 | |||||||
| chr2:62750650 | T | C | 3 | a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0185 |
3 | HG02818.hp1 HG02886.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.162+3198T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62750650 | |||||||
| chr2:62750789 | G | A | 1 | a0001c0001t0001g0137 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.162+3337G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62750789 | |||||||
| chr2:62750911 | A | G | 1 | a0001c0001t0001g0161 | 1 | NA18972.hp2 | intron_variant | MODIFIER | c.162+3459A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62750911 | |||||||
| chr2:62751195 | G | A | 1 | a0001c0001t0001g0158 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.162+3743G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62751195 | |||||||
| chr2:62751204 | A | T | 1 | a0001c0001t0001g0158 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.162+3752A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62751204 | |||||||
| chr2:62751212 | G | A | 1 | a0001c0004t0001g0118 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.162+3760G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62751212 | |||||||
| chr2:62751351 | A | G | 1 | a0001c0001t0001g0198 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.162+3899A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62751351 | |||||||
| chr2:62751436 | C | T | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.162+3984C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62751436 | |||||||
| chr2:62751536 | T | C | 2 | a0001c0001t0001g0152 a0001c0001t0001g0153 |
2 | HG02040.hp2 NA19010.hp1 |
intron_variant | MODIFIER | c.162+4084T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62751536 | |||||||
| chr2:62751593 | G | A | 1 | a0002c0002t0001g0004 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.162+4141G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62751593 | |||||||
| chr2:62751615 | C | G | 8 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(5): Show |
8 | HG02109.hp2 HG02280.hp1 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.162+4163C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62751615 | |||||||
| chr2:62751616 | G | A | 1 | a0001c0001t0001g0074 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.162+4164G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62751616 | |||||||
| chr2:62751616 | G | T | 1 | a0001c0001t0001g0030 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.162+4164G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62751616 | |||||||
| chr2:62751723 | G | T | 38 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(35): Show |
38 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(35): Show |
intron_variant | MODIFIER | c.162+4271G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62751723 | |||||||
| chr2:62751738 | T | C | 1 | a0001c0001t0002g0092 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.162+4286T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62751738 | |||||||
| chr2:62751746 | T | G | 1 | a0001c0001t0002g0082 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.162+4294T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62751746 | |||||||
| chr2:62751832 | C | A | 1 | a0001c0001t0001g0138 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.162+4380C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62751832 | |||||||
| chr2:62751846 | G | T | 93 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(90): Show |
93 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(90): Show |
intron_variant | MODIFIER | c.162+4394G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62751846 | |||||||
| chr2:62752019 | C | G | 1 | a0001c0001t0001g0123 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.162+4567C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62752019 | |||||||
| chr2:62752184 | G | A | 1 | a0002c0002t0001g0004 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.162+4732G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62752184 | |||||||
| chr2:62752302 | G | T | 1 | a0001c0001t0002g0092 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.162+4850G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62752302 | |||||||
| chr2:62752418 | G | A | 1 | a0001c0001t0002g0091 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.162+4966G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62752418 | |||||||
| chr2:62752530 | T | G | 1 | a0002c0002t0001g0195 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.162+5078T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62752530 | |||||||
| chr2:62752624 | G | C | 90 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(87): Show |
90 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(87): Show |
intron_variant | MODIFIER | c.162+5172G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62752624 | |||||||
| chr2:62752756 | TCTTTGTT others(19): Show |
T | 16 | a0001c0001t0001g0006 a0001c0001t0001g0127 a0001c0001t0001g0138 others(13): Show |
16 | HG00280.hp1 HG00544.hp1 HG00558.hp2 others(13): Show |
intron_variant | MODIFIER | c.162+5329_162+5354d others(28): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr2 | 62752756 | ||||||
| chr2:62753100 | T | C | 1 | a0001c0001t0001g0198 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.162+5648T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62753100 | |||||||
| chr2:62753116 | G | A | 1 | a0001c0001t0001g0069 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.162+5664G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62753116 | |||||||
| chr2:62753445 | T | C | 1 | a0001c0001t0001g0064 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.162+5993T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62753445 | |||||||
| chr2:62753531 | G | C | 1 | a0001c0001t0001g0064 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.162+6079G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62753531 | |||||||
| chr2:62753661 | T | C | 1 | a0001c0003t0001g0187 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.162+6209T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62753661 | |||||||
| chr2:62753783 | A | G | 1 | a0001c0001t0001g0064 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.162+6331A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62753783 | |||||||
| chr2:62753812 | C | T | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.162+6360C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62753812 | |||||||
| chr2:62754043 | C | T | 2 | a0001c0001t0001g0057 a0001c0001t0001g0183 |
2 | HG02109.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.162+6591C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62754043 | |||||||
| chr2:62754081 | A | G | 1 | a0001c0001t0001g0064 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.162+6629A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62754081 | |||||||
| chr2:62754186 | T | C | 1 | a0001c0001t0001g0196 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.162+6734T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62754186 | |||||||
| chr2:62754293 | G | T | 34 | a0001c0001t0001g0098 a0001c0001t0001g0106 a0001c0001t0001g0108 others(31): Show |
34 | HG00544.hp2 HG00558.hp1 HG00639.hp2 others(31): Show |
intron_variant | MODIFIER | c.162+6841G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62754293 | |||||||
| chr2:62754392 | G | A | 1 | a0001c0001t0001g0133 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.162+6940G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62754392 | |||||||
| chr2:62754647 | G | A | 1 | a0001c0001t0001g0067 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.162+7195G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62754647 | |||||||
| chr2:62754663 | C | T | 118 | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0022 others(115): Show |
118 | HG00099.hp2 HG00280.hp2 HG00438.hp1 others(115): Show |
intron_variant | MODIFIER | c.162+7211C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62754663 | |||||||
| chr2:62754676 | C | T | 35 | a0001c0001t0001g0098 a0001c0001t0001g0106 a0001c0001t0001g0108 others(32): Show |
35 | HG00544.hp2 HG00558.hp1 HG00639.hp2 others(32): Show |
intron_variant | MODIFIER | c.162+7224C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62754676 | |||||||
| chr2:62754724 | G | T | 1 | a0001c0001t0002g0099 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.162+7272G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62754724 | |||||||
| chr2:62754734 | C | A | 93 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(90): Show |
93 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(90): Show |
intron_variant | MODIFIER | c.162+7282C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62754734 | |||||||
| chr2:62754783 | G | A | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.162+7331G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62754783 | |||||||
| chr2:62754793 | C | T | 1 | a0001c0001t0001g0144 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.162+7341C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62754793 | |||||||
| chr2:62754810 | G | A | 3 | a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0180 |
3 | HG00621.hp1 HG02602.hp2 NA19005.hp2 |
intron_variant | MODIFIER | c.162+7358G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62754810 | |||||||
| chr2:62754934 | C | T | 1 | a0001c0001t0001g0149 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.162+7482C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62754934 | |||||||
| chr2:62754959 | G | C | 1 | a0001c0001t0001g0038 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.162+7507G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62754959 | |||||||
| chr2:62755009 | C | T | 37 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(34): Show |
37 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(34): Show |
intron_variant | MODIFIER | c.162+7557C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62755009 | |||||||
| chr2:62755069 | T | C | 2 | a0001c0001t0001g0018 a0001c0001t0001g0019 |
2 | HG02818.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.162+7617T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62755069 | |||||||
| chr2:62755160 | C | T | 1 | a0002c0002t0001g0011 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.162+7708C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62755160 | |||||||
| chr2:62755413 | G | A | 3 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0008t0001g0076 |
3 | HG02258.hp2 HG03195.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.162+7961G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62755413 | |||||||
| chr2:62755413 | G | GT | 17 | a0001c0001t0001g0006 a0001c0001t0001g0123 a0001c0001t0001g0127 others(14): Show |
17 | HG00280.hp1 HG00544.hp1 HG00558.hp2 others(14): Show |
intron_variant | MODIFIER | c.162+7971dupT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr2 | 62755413 | ||||||
| chr2:62755433 | T | C | 5 | a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0032 others(2): Show |
5 | HG00280.hp2 HG00738.hp2 HG01074.hp1 others(2): Show |
intron_variant | MODIFIER | c.162+7981T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62755433 | |||||||
| chr2:62755509 | T | C | 2 | a0001c0001t0001g0043 a0001c0001t0001g0044 |
2 | HG02809.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.162+8057T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62755509 | |||||||
| chr2:62755726 | A | G | 1 | a0001c0001t0001g0193 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.162+8274A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62755726 | |||||||
| chr2:62755933 | A | G | 2 | a0001c0001t0001g0128 a0001c0001t0001g0129 |
2 | NA18999.hp1 NA19079.hp2 |
intron_variant | MODIFIER | c.163-8333A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62755933 | |||||||
| chr2:62755935 | G | A | 1 | a0001c0001t0002g0080 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.163-8331G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62755935 | |||||||
| chr2:62755973 | G | A | 2 | a0003c0005t0001g0163 a0003c0005t0001g0164 |
2 | HG01070.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.163-8293G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62755973 | |||||||
| chr2:62756078 | G | A | 93 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(90): Show |
93 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(90): Show |
intron_variant | MODIFIER | c.163-8188G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62756078 | |||||||
| chr2:62756302 | T | C | 2 | a0001c0004t0003g0114 a0001c0004t0003g0115 |
2 | HG02280.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.163-7964T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62756302 | |||||||
| chr2:62756500 | G | A | 1 | a0001c0001t0001g0137 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.163-7766G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62756500 | |||||||
| chr2:62756519 | A | G | 1 | a0002c0002t0001g0195 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.163-7747A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62756519 | |||||||
| chr2:62756768 | CA | C | 89 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(86): Show |
89 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(86): Show |
intron_variant | MODIFIER | c.163-7477delA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr2 | 62756768 | ||||||
| chr2:62756878 | A | G | 1 | a0001c0001t0001g0043 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.163-7388A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62756878 | |||||||
| chr2:62757017 | T | G | 1 | a0001c0004t0003g0114 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.163-7249T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62757017 | |||||||
| chr2:62757426 | C | CT | 8 | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(5): Show |
8 | HG00438.hp1 HG01884.hp2 HG01981.hp2 others(5): Show |
intron_variant | MODIFIER | c.163-6821dupT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr2 | 62757426 | ||||||
| chr2:62757430 | T | C | 1 | a0001c0001t0001g0065 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.163-6836T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62757430 | |||||||
| chr2:62757437 | T | C | 4 | a0001c0004t0001g0118 a0001c0004t0001g0121 a0001c0004t0003g0114 others(1): Show |
4 | HG01167.hp2 HG02280.hp2 HG02809.hp2 others(1): Show |
intron_variant | MODIFIER | c.163-6829T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62757437 | |||||||
| chr2:62757543 | C | T | 2 | a0001c0001t0001g0119 a0001c0001t0001g0120 |
2 | HG02922.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.163-6723C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62757543 | |||||||
| chr2:62757583 | G | A | 2 | a0001c0001t0001g0122 a0001c0001t0002g0080 |
2 | NA18984.hp1 NA19077.hp1 |
intron_variant | MODIFIER | c.163-6683G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62757583 | |||||||
| chr2:62757683 | C | T | 2 | a0001c0001t0001g0198 a0004c0009t0001g0197 |
2 | HG01243.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.163-6583C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62757683 | |||||||
| chr2:62757694 | A | T | 1 | a0001c0001t0001g0149 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.163-6572A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62757694 | |||||||
| chr2:62757911 | T | C | 2 | a0001c0001t0001g0198 a0004c0009t0001g0197 |
2 | HG01243.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.163-6355T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62757911 | |||||||
| chr2:62758011 | C | CA | 14 | a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0048 others(11): Show |
14 | HG01884.hp1 HG02109.hp2 HG02145.hp2 others(11): Show |
intron_variant | MODIFIER | c.163-6237dupA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr2 | 62758011 | ||||||
| chr2:62758370 | A | G | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.163-5896A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62758370 | |||||||
| chr2:62758800 | CAAG | C | 2 | a0002c0002t0001g0005 a0002c0002t0001g0131 |
2 | HG00438.hp1 NA18612.hp2 |
intron_variant | MODIFIER | c.163-5462_163-5460d others(5): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr2 | 62758800 | ||||||
| chr2:62759586 | G | A | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.163-4680G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62759586 | |||||||
| chr2:62759613 | C | A | 1 | a0001c0001t0001g0177 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.163-4653C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62759613 | |||||||
| chr2:62759750 | T | C | 1 | a0001c0001t0001g0127 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.163-4516T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62759750 | |||||||
| chr2:62759884 | C | T | 1 | a0002c0002t0001g0004 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.163-4382C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62759884 | |||||||
| chr2:62759929 | C | T | 1 | a0001c0004t0001g0118 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.163-4337C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62759929 | |||||||
| chr2:62760327 | C | A | 1 | a0001c0001t0001g0043 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.163-3939C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62760327 | |||||||
| chr2:62760337 | A | T | 1 | a0001c0001t0005g0066 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.163-3929A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62760337 | |||||||
| chr2:62760585 | A | G | 1 | a0001c0001t0001g0178 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.163-3681A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62760585 | |||||||
| chr2:62760600 | C | A | 52 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(49): Show |
52 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(49): Show |
intron_variant | MODIFIER | c.163-3666C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62760600 | |||||||
| chr2:62760656 | T | G | 5 | a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0067 others(2): Show |
5 | HG02109.hp2 HG02280.hp1 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.163-3610T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62760656 | |||||||
| chr2:62760914 | A | T | 35 | a0001c0001t0001g0098 a0001c0001t0001g0106 a0001c0001t0001g0108 others(32): Show |
35 | HG00558.hp1 HG00639.hp2 HG01070.hp1 others(32): Show |
intron_variant | MODIFIER | c.163-3352A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62760914 | |||||||
| chr2:62761034 | G | T | 89 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(86): Show |
89 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(86): Show |
intron_variant | MODIFIER | c.163-3232G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62761034 | |||||||
| chr2:62761522 | G | A | 1 | a0001c0001t0001g0181 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.163-2744G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62761522 | |||||||
| chr2:62761983 | G | A | 2 | a0001c0001t0001g0134 a0001c0001t0001g0135 |
2 | HG02970.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.163-2283G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62761983 | |||||||
| chr2:62762410 | A | C | 1 | a0001c0001t0002g0087 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.163-1856A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62762410 | |||||||
| chr2:62762484 | A | T | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.163-1782A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62762484 | |||||||
| chr2:62763361 | G | A | 1 | a0001c0001t0001g0179 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.163-905G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62763361 | |||||||
| chr2:62763502 | G | A | 93 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(90): Show |
93 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(90): Show |
intron_variant | MODIFIER | c.163-764G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62763502 | |||||||
| chr2:62763585 | G | A | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.163-681G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62763585 | |||||||
| chr2:62763943 | G | C | 1 | a0001c0001t0001g0072 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.163-323G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62763943 | |||||||
| chr2:62764102 | A | G | 3 | a0001c0001t0001g0064 a0001c0001t0001g0116 a0001c0001t0001g0117 |
3 | HG02559.hp2 HG02818.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.163-164A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62764102 | |||||||
| chr2:62764190 | A | G | 1 | a0001c0001t0001g0142 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.163-76A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 3/22 | chr2 | 62764190 | |||||||
| chr2:62764481 | T | C | 1 | a0001c0001t0001g0146 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.258+120T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 4/22 | chr2 | 62764481 | |||||||
| chr2:62764570 | A | G | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.258+209A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 4/22 | chr2 | 62764570 | |||||||
| chr2:62764583 | G | A | 17 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(14): Show |
17 | HG00099.hp1 HG00639.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.258+222G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 4/22 | chr2 | 62764583 | |||||||
| chr2:62764768 | G | A | 3 | a0001c0001t0001g0138 a0001c0001t0001g0148 a0001c0001t0001g0154 |
3 | HG00544.hp1 NA19009.hp2 NA19065.hp2 |
intron_variant | MODIFIER | c.258+407G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 4/22 | chr2 | 62764768 | |||||||
| chr2:62765107 | A | T | 1 | a0001c0001t0001g0026 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.258+746A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 4/22 | chr2 | 62765107 | |||||||
| chr2:62765517 | T | C | 2 | a0001c0001t0001g0064 a0004c0009t0001g0197 |
2 | HG01243.hp2 HG02559.hp2 |
intron_variant | MODIFIER | c.258+1156T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 4/22 | chr2 | 62765517 | |||||||
| chr2:62765793 | G | T | 1 | a0001c0001t0001g0182 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.258+1432G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 4/22 | chr2 | 62765793 | |||||||
| chr2:62765911 | A | G | 1 | a0001c0001t0001g0184 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.258+1550A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 4/22 | chr2 | 62765911 | |||||||
| chr2:62766227 | A | G | 1 | a0001c0001t0001g0043 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.258+1866A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 4/22 | chr2 | 62766227 | |||||||
| chr2:62766317 | G | A | 2 | a0001c0001t0001g0063 a0001c0001t0001g0067 |
2 | HG02109.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.258+1956G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 4/22 | chr2 | 62766317 | |||||||
| chr2:62766384 | C | T | 3 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0008t0001g0076 |
3 | HG02258.hp2 HG03195.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.258+2023C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 4/22 | chr2 | 62766384 | |||||||
| chr2:62766619 | G | A | 1 | a0001c0001t0001g0049 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.258+2258G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 4/22 | chr2 | 62766619 | |||||||
| chr2:62766696 | T | C | 12 | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 others(9): Show |
12 | HG00642.hp1 HG01261.hp1 HG01515.hp2 others(9): Show |
intron_variant | MODIFIER | c.258+2335T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 4/22 | chr2 | 62766696 | |||||||
| chr2:62766808 | T | C | 1 | a0001c0001t0002g0094 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.258+2447T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 4/22 | chr2 | 62766808 | |||||||
| chr2:62766958 | T | TA | 10 | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(7): Show |
10 | HG00558.hp1 HG01243.hp2 HG01884.hp2 others(7): Show |
intron_variant | MODIFIER | c.258+2619dupA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr2 | 62766958 | ||||||
| chr2:62766958 | TA | T | 10 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0058 others(7): Show |
10 | HG02717.hp2 HG03130.hp1 HG03490.hp2 others(7): Show |
intron_variant | MODIFIER | c.258+2619delA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr2 | 62766958 | ||||||
| chr2:62767139 | GTTTA | G | 2 | a0001c0001t0001g0122 a0001c0001t0002g0080 |
2 | NA18984.hp1 NA19077.hp1 |
intron_variant | MODIFIER | c.258+2783_258+2786d others(6): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr2 | 62767139 | ||||||
| chr2:62767622 | C | T | 1 | a0001c0001t0001g0175 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.258+3261C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 4/22 | chr2 | 62767622 | |||||||
| chr2:62767810 | T | A | 1 | a0002c0002t0001g0013 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.258+3449T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 4/22 | chr2 | 62767810 | |||||||
| chr2:62767811 | G | T | 1 | a0002c0002t0001g0013 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.258+3450G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 4/22 | chr2 | 62767811 | |||||||
| chr2:62767833 | C | CA | 10 | a0001c0001t0001g0128 a0001c0001t0001g0147 a0001c0001t0001g0162 others(7): Show |
10 | HG00639.hp1 HG00738.hp1 HG01346.hp1 others(7): Show |
intron_variant | MODIFIER | c.259-3486dupA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr2 | 62767833 | ||||||
| chr2:62767833 | CA | C | 53 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0015 others(50): Show |
53 | HG00099.hp2 HG00280.hp2 HG00438.hp1 others(50): Show |
intron_variant | MODIFIER | c.259-3486delA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr2 | 62767833 | ||||||
| chr2:62767999 | A | G | 1 | a0001c0001t0001g0064 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.259-3340A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 4/22 | chr2 | 62767999 | |||||||
| chr2:62768048 | A | G | 101 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(98): Show |
101 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(98): Show |
intron_variant | MODIFIER | c.259-3291A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 4/22 | chr2 | 62768048 | |||||||
| chr2:62768633 | T | C | 1 | a0001c0001t0001g0074 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.259-2706T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 4/22 | chr2 | 62768633 | |||||||
| chr2:62768818 | G | A | 1 | a0001c0001t0001g0043 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.259-2521G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 4/22 | chr2 | 62768818 | |||||||
| chr2:62769082 | C | T | 1 | a0001c0001t0002g0087 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.259-2257C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 4/22 | chr2 | 62769082 | |||||||
| chr2:62769178 | G | C | 2 | a0001c0001t0001g0119 a0001c0001t0001g0120 |
2 | HG02922.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.259-2161G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 4/22 | chr2 | 62769178 | |||||||
| chr2:62769413 | C | T | 1 | a0001c0001t0001g0175 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.259-1926C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 4/22 | chr2 | 62769413 | |||||||
| chr2:62769438 | A | G | 1 | a0001c0001t0001g0136 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.259-1901A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 4/22 | chr2 | 62769438 | |||||||
| chr2:62769496 | A | G | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.259-1843A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 4/22 | chr2 | 62769496 | |||||||
| chr2:62769510 | G | A | 86 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(83): Show |
86 | HG00099.hp2 HG00438.hp2 HG00544.hp2 others(83): Show |
intron_variant | MODIFIER | c.259-1829G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 4/22 | chr2 | 62769510 | |||||||
| chr2:62769795 | T | TA | 24 | a0001c0001t0001g0007 a0001c0001t0001g0025 a0001c0001t0001g0031 others(21): Show |
24 | HG00280.hp2 HG00438.hp1 HG00621.hp2 others(21): Show |
intron_variant | MODIFIER | c.259-1523dupA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr2 | 62769795 | ||||||
| chr2:62769814 | AAAG | A | 29 | a0001c0001t0001g0098 a0001c0001t0001g0106 a0001c0001t0001g0108 others(26): Show |
29 | HG00544.hp2 HG00558.hp1 HG00639.hp2 others(26): Show |
intron_variant | MODIFIER | c.259-1524_259-1522d others(5): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 4/22 | chr2 | 62769814 | |||||||
| chr2:62770143 | T | G | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.259-1196T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 4/22 | chr2 | 62770143 | |||||||
| chr2:62770166 | A | G | 1 | a0001c0001t0001g0146 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.259-1173A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 4/22 | chr2 | 62770166 | |||||||
| chr2:62770405 | G | A | 1 | a0001c0001t0002g0083 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.259-934G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 4/22 | chr2 | 62770405 | |||||||
| chr2:62770672 | A | G | 1 | a0001c0001t0001g0130 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.259-667A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 4/22 | chr2 | 62770672 | |||||||
| chr2:62770740 | A | G | 1 | a0001c0001t0001g0064 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.259-599A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 4/22 | chr2 | 62770740 | |||||||
| chr2:62770899 | G | A | 195 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(192): Show |
195 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(192): Show |
intron_variant | MODIFIER | c.259-440G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 4/22 | chr2 | 62770899 | |||||||
| chr2:62771459 | T | C | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.312+67T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62771459 | |||||||
| chr2:62771504 | T | C | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.312+112T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62771504 | |||||||
| chr2:62771994 | G | A | 6 | a0001c0001t0001g0123 a0001c0001t0001g0133 a0001c0001t0001g0134 others(3): Show |
6 | HG02145.hp2 HG02559.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.312+602G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62771994 | |||||||
| chr2:62772032 | C | T | 2 | a0001c0001t0001g0016 a0001c0001t0001g0017 |
2 | HG03195.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.312+640C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62772032 | |||||||
| chr2:62772197 | G | A | 1 | a0001c0001t0001g0146 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.312+805G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62772197 | |||||||
| chr2:62772224 | GAA | G | 2 | a0001c0001t0001g0171 a0001c0001t0001g0172 |
2 | HG01346.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.312+834_312+835del others(2): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62772224 | ||||||
| chr2:62772391 | A | G | 2 | a0001c0001t0001g0119 a0001c0001t0001g0120 |
2 | HG02922.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.312+999A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62772391 | |||||||
| chr2:62772521 | A | G | 1 | a0001c0001t0001g0067 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.312+1129A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62772521 | |||||||
| chr2:62772979 | T | G | 2 | a0001c0001t0001g0181 a0001c0001t0001g0184 |
2 | HG03453.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.312+1587T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62772979 | |||||||
| chr2:62773104 | C | T | 2 | a0001c0001t0001g0119 a0001c0001t0001g0120 |
2 | HG02922.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.312+1712C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62773104 | |||||||
| chr2:62773761 | G | C | 2 | a0001c0001t0001g0171 a0001c0001t0001g0172 |
2 | HG01346.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.312+2369G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62773761 | |||||||
| chr2:62773850 | C | CA | 30 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(27): Show |
30 | HG00438.hp1 HG00544.hp1 HG00738.hp1 others(27): Show |
intron_variant | MODIFIER | c.312+2493dupA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62773850 | ||||||
| chr2:62773850 | C | CAA | 16 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(13): Show |
16 | HG00621.hp1 HG01070.hp2 HG01071.hp1 others(13): Show |
intron_variant | MODIFIER | c.312+2492_312+2493d others(4): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62773850 | ||||||
| chr2:62773850 | C | CAAA | 7 | a0001c0001t0001g0001 a0001c0001t0001g0057 a0001c0001t0001g0127 others(4): Show |
7 | HG00099.hp1 HG00639.hp1 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.312+2491_312+2493d others(5): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62773850 | ||||||
| chr2:62773850 | CAA | C | 5 | a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 others(2): Show |
5 | HG00642.hp1 HG01261.hp1 HG01261.hp2 others(2): Show |
intron_variant | MODIFIER | c.312+2492_312+2493d others(4): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62773850 | ||||||
| chr2:62773850 | CAAAAAA | C | 7 | a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0077 others(4): Show |
7 | HG01243.hp2 HG02258.hp2 HG02717.hp1 others(4): Show |
intron_variant | MODIFIER | c.312+2488_312+2493d others(8): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62773850 | ||||||
| chr2:62773850 | CAAAAAAA others(3): Show |
C | 1 | a0001c0001t0001g0198 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.312+2484_312+2493d others(12): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62773850 | ||||||
| chr2:62773850 | CAAAAAAA others(5): Show |
C | 4 | a0001c0004t0001g0118 a0001c0004t0001g0121 a0001c0004t0003g0114 others(1): Show |
4 | HG01167.hp2 HG02280.hp2 HG02809.hp2 others(1): Show |
intron_variant | MODIFIER | c.312+2482_312+2493d others(14): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62773850 | ||||||
| chr2:62773850 | CAAAAAAA others(6): Show |
C | 78 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(75): Show |
78 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(75): Show |
intron_variant | MODIFIER | c.312+2481_312+2493d others(15): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62773850 | ||||||
| chr2:62773850 | CAAAAAAA others(7): Show |
C | 4 | a0001c0001t0001g0024 a0001c0001t0002g0080 a0001c0001t0002g0086 others(1): Show |
4 | HG01070.hp1 HG01256.hp2 HG02040.hp1 others(1): Show |
intron_variant | MODIFIER | c.312+2480_312+2493d others(16): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62773850 | ||||||
| chr2:62773850 | CAAAAAAA others(8): Show |
C | 6 | a0001c0001t0001g0122 a0001c0003t0001g0186 a0001c0003t0001g0187 others(3): Show |
6 | HG02717.hp2 HG03130.hp1 NA18906.hp1 others(3): Show |
intron_variant | MODIFIER | c.312+2479_312+2493d others(17): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62773850 | ||||||
| chr2:62773884 | A | AG | 3 | a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0174 |
3 | HG02135.hp1 HG02559.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.312+2492_312+2493i others(3): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62773884 | |||||||
| chr2:62773884 | A | G | 39 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 others(36): Show |
39 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(36): Show |
intron_variant | MODIFIER | c.312+2492A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62773884 | |||||||
| chr2:62773886 | G | A | 3 | a0001c0001t0001g0175 a0002c0002t0001g0012 a0002c0002t0001g0125 |
3 | HG02165.hp2 HG02602.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.312+2494G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62773886 | |||||||
| chr2:62774004 | C | T | 38 | a0001c0001t0001g0098 a0001c0001t0001g0106 a0001c0001t0001g0108 others(35): Show |
38 | HG00544.hp2 HG00558.hp1 HG00639.hp2 others(35): Show |
intron_variant | MODIFIER | c.312+2612C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62774004 | |||||||
| chr2:62774200 | G | A | 92 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(89): Show |
92 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(89): Show |
intron_variant | MODIFIER | c.312+2808G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62774200 | |||||||
| chr2:62774416 | T | A | 1 | a0001c0008t0001g0076 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.312+3024T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62774416 | |||||||
| chr2:62774867 | C | A | 6 | a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0188 others(3): Show |
6 | HG02717.hp2 HG03130.hp1 HG03540.hp2 others(3): Show |
intron_variant | MODIFIER | c.312+3475C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62774867 | |||||||
| chr2:62775004 | A | G | 7 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 others(4): Show |
7 | NA18952.hp1 NA18962.hp1 NA18972.hp1 others(4): Show |
intron_variant | MODIFIER | c.312+3612A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62775004 | |||||||
| chr2:62775059 | C | T | 1 | a0001c0001t0001g0126 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.312+3667C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62775059 | |||||||
| chr2:62775067 | A | G | 1 | a0001c0001t0002g0093 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.312+3675A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62775067 | |||||||
| chr2:62775091 | A | G | 1 | a0001c0001t0001g0172 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.312+3699A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62775091 | |||||||
| chr2:62775124 | T | C | 1 | a0001c0001t0001g0130 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.312+3732T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62775124 | |||||||
| chr2:62775137 | T | C | 1 | a0001c0001t0001g0184 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.312+3745T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62775137 | |||||||
| chr2:62775155 | T | C | 1 | a0001c0001t0001g0150 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.312+3763T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62775155 | |||||||
| chr2:62775555 | T | C | 1 | a0001c0001t0001g0064 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.312+4163T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62775555 | |||||||
| chr2:62775668 | G | T | 1 | a0001c0003t0001g0191 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.312+4276G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62775668 | |||||||
| chr2:62776501 | G | T | 1 | a0001c0001t0002g0081 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.312+5109G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62776501 | |||||||
| chr2:62776551 | C | T | 4 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show |
4 | HG02258.hp2 HG02717.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.312+5159C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62776551 | |||||||
| chr2:62777394 | C | CTATTTTG others(15): Show |
3 | a0001c0001t0001g0006 a0001c0001t0001g0156 a0001c0001t0001g0157 |
3 | HG02155.hp1 NA18612.hp1 NA18962.hp2 |
intron_variant | MODIFIER | c.312+6002_312+6003i others(24): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62777394 | |||||||
| chr2:62777528 | A | C | 1 | a0001c0001t0001g0064 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.312+6136A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62777528 | |||||||
| chr2:62777757 | T | C | 1 | a0001c0001t0001g0006 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.312+6365T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62777757 | |||||||
| chr2:62777946 | T | C | 4 | a0001c0001t0001g0124 a0001c0001t0001g0158 a0001c0001t0001g0178 others(1): Show |
4 | HG01123.hp2 HG01167.hp1 HG02293.hp2 others(1): Show |
intron_variant | MODIFIER | c.312+6554T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62777946 | |||||||
| chr2:62778389 | A | G | 4 | a0001c0001t0002g0091 a0001c0001t0002g0094 a0001c0001t0002g0099 others(1): Show |
4 | HG01070.hp1 HG01346.hp2 HG03704.hp1 others(1): Show |
intron_variant | MODIFIER | c.312+6997A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62778389 | |||||||
| chr2:62778541 | C | CA | 5 | a0001c0001t0001g0137 a0001c0001t0001g0145 a0001c0001t0001g0177 others(2): Show |
5 | HG00621.hp1 HG01243.hp1 HG02015.hp1 others(2): Show |
intron_variant | MODIFIER | c.312+7168dupA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62778541 | ||||||
| chr2:62778541 | CA | C | 13 | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 others(10): Show |
13 | HG00642.hp1 HG01261.hp1 HG01261.hp2 others(10): Show |
intron_variant | MODIFIER | c.312+7168delA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62778541 | ||||||
| chr2:62778568 | C | CAGT | 4 | a0002c0002t0001g0008 a0002c0002t0001g0011 a0002c0002t0001g0012 others(1): Show |
4 | HG02602.hp1 NA18954.hp1 NA18995.hp1 others(1): Show |
intron_variant | MODIFIER | c.312+7180_312+7182d others(5): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62778568 | ||||||
| chr2:62778868 | G | GT | 101 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(98): Show |
101 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(98): Show |
intron_variant | MODIFIER | c.312+7485dupT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62778868 | ||||||
| chr2:62779066 | A | C | 2 | a0001c0001t0001g0132 a0004c0009t0001g0197 |
2 | HG01243.hp2 HG02965.hp2 |
intron_variant | MODIFIER | c.312+7674A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62779066 | |||||||
| chr2:62779242 | T | C | 1 | a0001c0001t0001g0054 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.312+7850T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62779242 | |||||||
| chr2:62779443 | C | T | 1 | a0001c0001t0001g0073 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.312+8051C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62779443 | |||||||
| chr2:62779535 | T | G | 1 | a0001c0001t0001g0130 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.312+8143T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62779535 | |||||||
| chr2:62779652 | C | T | 5 | a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 others(2): Show |
5 | HG02145.hp2 HG02559.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.312+8260C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62779652 | |||||||
| chr2:62779924 | A | G | 100 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(97): Show |
100 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(97): Show |
intron_variant | MODIFIER | c.312+8532A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62779924 | |||||||
| chr2:62779943 | G | A | 2 | a0001c0001t0001g0062 a0001c0001t0001g0065 |
2 | HG03139.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.312+8551G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62779943 | |||||||
| chr2:62780230 | T | C | 3 | a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0180 |
3 | HG00621.hp1 HG02602.hp2 NA19005.hp2 |
intron_variant | MODIFIER | c.312+8838T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62780230 | |||||||
| chr2:62780331 | G | T | 1 | a0001c0001t0001g0026 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.312+8939G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62780331 | |||||||
| chr2:62780463 | A | G | 1 | a0001c0001t0001g0145 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.312+9071A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62780463 | |||||||
| chr2:62780471 | C | A | 6 | a0001c0001t0001g0123 a0001c0001t0001g0133 a0001c0001t0001g0134 others(3): Show |
6 | HG02145.hp2 HG02559.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.312+9079C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62780471 | |||||||
| chr2:62780646 | A | G | 4 | a0001c0001t0001g0124 a0001c0001t0001g0158 a0001c0001t0001g0178 others(1): Show |
4 | HG01123.hp2 HG01167.hp1 HG02293.hp2 others(1): Show |
intron_variant | MODIFIER | c.312+9254A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62780646 | |||||||
| chr2:62780763 | A | G | 1 | a0002c0002t0001g0195 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.312+9371A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62780763 | |||||||
| chr2:62780909 | G | A | 75 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(72): Show |
75 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(72): Show |
intron_variant | MODIFIER | c.312+9517G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62780909 | |||||||
| chr2:62780911 | GATT | G | 103 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(100): Show |
103 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(100): Show |
intron_variant | MODIFIER | c.312+9523_312+9525d others(5): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62780911 | ||||||
| chr2:62781279 | T | C | 100 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(97): Show |
100 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(97): Show |
intron_variant | MODIFIER | c.312+9887T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62781279 | |||||||
| chr2:62781368 | A | G | 1 | a0002c0002t0001g0125 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.312+9976A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62781368 | |||||||
| chr2:62781690 | G | T | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.312+10298G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62781690 | |||||||
| chr2:62781817 | A | G | 1 | a0001c0001t0001g0077 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.312+10425A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62781817 | |||||||
| chr2:62781847 | A | G | 2 | a0001c0001t0001g0035 a0001c0001t0001g0036 |
2 | HG01884.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.312+10455A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62781847 | |||||||
| chr2:62781934 | A | G | 4 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show |
4 | HG02258.hp2 HG02717.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.312+10542A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62781934 | |||||||
| chr2:62782401 | A | G | 1 | a0001c0006t0001g0160 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.312+11009A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62782401 | |||||||
| chr2:62782826 | C | T | 1 | a0001c0001t0001g0073 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.312+11434C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62782826 | |||||||
| chr2:62782908 | C | CT | 23 | a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 others(20): Show |
23 | HG00642.hp2 HG01123.hp2 HG01167.hp1 others(20): Show |
intron_variant | MODIFIER | c.312+11517dupT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62782908 | ||||||
| chr2:62782927 | C | T | 3 | a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0198 |
3 | HG02622.hp2 HG03453.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.312+11535C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62782927 | |||||||
| chr2:62782997 | A | T | 1 | a0001c0007t0002g0097 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.312+11605A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62782997 | |||||||
| chr2:62783017 | G | A | 2 | a0001c0001t0001g0016 a0001c0001t0001g0017 |
2 | HG03195.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.312+11625G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62783017 | |||||||
| chr2:62783061 | G | A | 4 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show |
4 | HG02258.hp2 HG02717.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.312+11669G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62783061 | |||||||
| chr2:62783214 | T | C | 11 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(8): Show |
11 | HG00099.hp1 HG00639.hp1 HG00738.hp1 others(8): Show |
intron_variant | MODIFIER | c.312+11822T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62783214 | |||||||
| chr2:62783232 | C | A | 1 | a0001c0001t0001g0044 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.312+11840C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62783232 | |||||||
| chr2:62783490 | A | G | 1 | a0001c0001t0001g0064 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.312+12098A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62783490 | |||||||
| chr2:62783755 | G | GGGA | 22 | a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0122 others(19): Show |
22 | HG00558.hp1 HG01243.hp1 HG01257.hp2 others(19): Show |
intron_variant | MODIFIER | c.312+12366_312+1236 others(7): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62783755 | ||||||
| chr2:62784536 | C | T | 90 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(87): Show |
90 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(87): Show |
intron_variant | MODIFIER | c.312+13144C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62784536 | |||||||
| chr2:62784745 | G | A | 2 | a0001c0001t0001g0119 a0001c0001t0001g0120 |
2 | HG02922.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.312+13353G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62784745 | |||||||
| chr2:62785607 | A | G | 1 | a0001c0001t0001g0196 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.312+14215A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62785607 | |||||||
| chr2:62785802 | T | C | 1 | a0001c0003t0001g0188 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.312+14410T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62785802 | |||||||
| chr2:62786380 | C | G | 91 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(88): Show |
91 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(88): Show |
intron_variant | MODIFIER | c.312+14988C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62786380 | |||||||
| chr2:62786896 | A | G | 1 | a0001c0001t0001g0016 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.312+15504A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62786896 | |||||||
| chr2:62787110 | G | A | 2 | a0001c0001t0001g0146 a0001c0001t0001g0147 |
2 | HG00558.hp2 HG02071.hp1 |
intron_variant | MODIFIER | c.312+15718G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62787110 | |||||||
| chr2:62787394 | G | GC | 73 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(70): Show |
73 | HG00544.hp1 HG00558.hp2 HG00639.hp2 others(70): Show |
intron_variant | MODIFIER | c.312+16014dupC | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62787394 | ||||||
| chr2:62787394 | G | GCC | 12 | a0001c0001t0001g0003 a0001c0001t0001g0064 a0001c0001t0001g0145 others(9): Show |
12 | HG00438.hp1 HG00621.hp1 HG00639.hp1 others(9): Show |
intron_variant | MODIFIER | c.312+16013_312+1601 others(6): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62787394 | ||||||
| chr2:62787394 | GC | G | 26 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 others(23): Show |
26 | HG00099.hp1 HG00099.hp2 HG01074.hp1 others(23): Show |
intron_variant | MODIFIER | c.312+16014delC | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62787394 | ||||||
| chr2:62787405 | C | G | 1 | a0001c0003t0001g0190 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.312+16013C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62787405 | |||||||
| chr2:62787774 | G | A | 6 | a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 others(3): Show |
6 | HG01070.hp2 HG01071.hp1 HG01261.hp2 others(3): Show |
intron_variant | MODIFIER | c.312+16382G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62787774 | |||||||
| chr2:62787909 | C | T | 4 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show |
4 | HG02258.hp2 HG02717.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.312+16517C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62787909 | |||||||
| chr2:62787966 | TGGAGTAG others(15): Show |
T | 1 | a0001c0001t0001g0030 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.312+16575_312+1659 others(26): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62787966 | |||||||
| chr2:62788160 | CAAT | C | 5 | a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0032 others(2): Show |
5 | HG00280.hp2 HG00738.hp2 HG01074.hp1 others(2): Show |
intron_variant | MODIFIER | c.312+16772_312+1677 others(7): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62788160 | ||||||
| chr2:62788170 | G | C | 1 | a0001c0001t0001g0132 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.312+16778G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62788170 | |||||||
| chr2:62788219 | T | C | 2 | a0001c0001t0001g0043 a0001c0001t0001g0044 |
2 | HG02809.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.312+16827T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62788219 | |||||||
| chr2:62788327 | C | T | 3 | a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0002g0176 |
3 | HG03491.hp1 HG03710.hp1 HG03927.hp1 |
intron_variant | MODIFIER | c.312+16935C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62788327 | |||||||
| chr2:62788423 | G | A | 1 | a0001c0001t0001g0064 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.312+17031G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62788423 | |||||||
| chr2:62788874 | C | T | 6 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(3): Show |
6 | HG02109.hp2 HG02280.hp1 HG03098.hp2 others(3): Show |
intron_variant | MODIFIER | c.312+17482C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62788874 | |||||||
| chr2:62789071 | A | G | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.312+17679A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62789071 | |||||||
| chr2:62789335 | C | T | 2 | a0001c0001t0001g0062 a0001c0001t0001g0065 |
2 | HG03139.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.312+17943C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62789335 | |||||||
| chr2:62789693 | C | G | 1 | a0001c0001t0001g0185 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.312+18301C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62789693 | |||||||
| chr2:62790203 | T | C | 4 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show |
4 | HG02258.hp2 HG02717.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.312+18811T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62790203 | |||||||
| chr2:62790503 | A | T | 2 | a0001c0001t0001g0140 a0001c0001t0002g0143 |
2 | NA18963.hp2 NA18998.hp2 |
intron_variant | MODIFIER | c.312+19111A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62790503 | |||||||
| chr2:62790625 | C | T | 3 | a0001c0001t0001g0048 a0001c0001t0001g0054 a0001c0001t0001g0055 |
3 | NA18962.hp1 NA18999.hp2 NA19005.hp1 |
intron_variant | MODIFIER | c.312+19233C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62790625 | |||||||
| chr2:62791010 | A | G | 2 | a0001c0001t0001g0043 a0001c0001t0001g0044 |
2 | HG02809.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.312+19618A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62791010 | |||||||
| chr2:62791042 | A | G | 1 | a0001c0001t0001g0174 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.312+19650A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62791042 | |||||||
| chr2:62791557 | A | G | 2 | a0001c0001t0001g0122 a0001c0001t0002g0080 |
2 | NA18984.hp1 NA19077.hp1 |
intron_variant | MODIFIER | c.312+20165A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62791557 | |||||||
| chr2:62791606 | C | T | 1 | a0001c0001t0001g0198 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.312+20214C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62791606 | |||||||
| chr2:62791633 | G | A | 1 | a0001c0004t0001g0118 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.312+20241G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62791633 | |||||||
| chr2:62791828 | A | T | 4 | a0001c0001t0001g0161 a0001c0001t0001g0165 a0003c0005t0001g0163 others(1): Show |
4 | HG01070.hp2 HG01071.hp1 HG01261.hp2 others(1): Show |
intron_variant | MODIFIER | c.312+20436A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62791828 | |||||||
| chr2:62791952 | C | T | 2 | a0002c0002t0001g0009 a0002c0002t0001g0010 |
2 | HG03490.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.312+20560C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62791952 | |||||||
| chr2:62792124 | T | C | 1 | a0001c0001t0001g0063 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.312+20732T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62792124 | |||||||
| chr2:62792373 | T | G | 1 | a0001c0001t0001g0064 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.312+20981T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62792373 | |||||||
| chr2:62792570 | A | G | 2 | a0001c0001t0002g0090 a0001c0001t0002g0096 |
2 | HG00639.hp2 HG02698.hp1 |
intron_variant | MODIFIER | c.312+21178A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62792570 | |||||||
| chr2:62792680 | G | C | 99 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(96): Show |
99 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(96): Show |
intron_variant | MODIFIER | c.312+21288G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62792680 | |||||||
| chr2:62793001 | G | A | 1 | a0001c0001t0001g0184 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.312+21609G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62793001 | |||||||
| chr2:62793184 | T | G | 2 | a0001c0001t0002g0091 a0001c0007t0002g0097 |
2 | HG01070.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.312+21792T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62793184 | |||||||
| chr2:62793647 | T | C | 1 | a0001c0001t0001g0064 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.312+22255T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62793647 | |||||||
| chr2:62793724 | G | A | 3 | a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0198 |
3 | HG02622.hp2 HG03453.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.312+22332G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62793724 | |||||||
| chr2:62793835 | A | G | 92 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(89): Show |
92 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(89): Show |
intron_variant | MODIFIER | c.312+22443A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62793835 | |||||||
| chr2:62794619 | TTA | T | 2 | a0001c0001t0001g0022 a0001c0001t0001g0023 |
2 | HG03491.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.312+23229_312+2323 others(6): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62794619 | ||||||
| chr2:62794704 | T | G | 1 | a0001c0007t0002g0097 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.312+23312T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62794704 | |||||||
| chr2:62794915 | T | C | 128 | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0022 others(125): Show |
128 | HG00099.hp2 HG00280.hp2 HG00438.hp1 others(125): Show |
intron_variant | MODIFIER | c.312+23523T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62794915 | |||||||
| chr2:62795244 | T | C | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.312+23852T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62795244 | |||||||
| chr2:62795626 | A | G | 1 | a0001c0001t0001g0123 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.312+24234A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62795626 | |||||||
| chr2:62795697 | G | A | 13 | a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0001g0070 others(10): Show |
13 | HG00642.hp1 HG01261.hp1 HG01361.hp1 others(10): Show |
intron_variant | MODIFIER | c.312+24305G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62795697 | |||||||
| chr2:62796275 | C | T | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.312+24883C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62796275 | |||||||
| chr2:62796658 | T | C | 1 | a0002c0002t0001g0013 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.312+25266T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62796658 | |||||||
| chr2:62796701 | T | C | 1 | a0002c0002t0001g0013 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.312+25309T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62796701 | |||||||
| chr2:62796826 | CT | C | 7 | a0001c0001t0001g0038 a0001c0001t0001g0077 a0001c0001t0001g0078 others(4): Show |
7 | HG01515.hp1 HG02258.hp2 HG02717.hp1 others(4): Show |
intron_variant | MODIFIER | c.312+25450delT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62796826 | ||||||
| chr2:62796969 | A | G | 2 | a0001c0001t0001g0029 a0001c0001t0001g0034 |
2 | HG03239.hp1 HG03831.hp1 |
intron_variant | MODIFIER | c.312+25577A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62796969 | |||||||
| chr2:62797208 | T | C | 4 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show |
4 | HG02258.hp2 HG02717.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.312+25816T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62797208 | |||||||
| chr2:62797421 | G | A | 1 | a0001c0001t0001g0135 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.312+26029G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62797421 | |||||||
| chr2:62797518 | G | A | 22 | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 others(19): Show |
22 | HG00099.hp2 HG00280.hp2 HG00738.hp2 others(19): Show |
intron_variant | MODIFIER | c.312+26126G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62797518 | |||||||
| chr2:62797769 | T | C | 1 | a0001c0001t0001g0184 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.312+26377T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62797769 | |||||||
| chr2:62798002 | T | C | 1 | a0001c0001t0001g0141 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.312+26610T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62798002 | |||||||
| chr2:62798214 | A | T | 10 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(7): Show |
10 | HG02109.hp2 HG02280.hp1 HG02559.hp2 others(7): Show |
intron_variant | MODIFIER | c.312+26822A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62798214 | |||||||
| chr2:62798268 | T | C | 1 | a0001c0001t0002g0091 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.312+26876T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62798268 | |||||||
| chr2:62798275 | C | T | 46 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(43): Show |
46 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(43): Show |
intron_variant | MODIFIER | c.312+26883C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62798275 | |||||||
| chr2:62798324 | C | T | 34 | a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0122 others(31): Show |
34 | HG00544.hp2 HG00558.hp1 HG00639.hp2 others(31): Show |
intron_variant | MODIFIER | c.312+26932C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62798324 | |||||||
| chr2:62798815 | C | T | 1 | a0001c0001t0001g0053 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.313-27272C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62798815 | |||||||
| chr2:62798914 | G | A | 3 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | HG01256.hp1 HG01258.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.313-27173G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62798914 | |||||||
| chr2:62798982 | T | C | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.313-27105T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62798982 | |||||||
| chr2:62798998 | C | T | 1 | a0001c0001t0001g0006 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.313-27089C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62798998 | |||||||
| chr2:62799003 | C | CA | 61 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(58): Show |
61 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(58): Show |
intron_variant | MODIFIER | c.313-27062dupA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62799003 | ||||||
| chr2:62799003 | C | CAA | 41 | a0001c0001t0001g0045 a0001c0001t0001g0106 a0001c0001t0001g0108 others(38): Show |
41 | HG00544.hp2 HG00558.hp1 HG00639.hp2 others(38): Show |
intron_variant | MODIFIER | c.313-27063_313-2706 others(6): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62799003 | ||||||
| chr2:62799003 | CA | C | 16 | a0001c0001t0001g0016 a0001c0001t0001g0127 a0001c0001t0001g0158 others(13): Show |
16 | HG00438.hp1 HG01070.hp2 HG01123.hp1 others(13): Show |
intron_variant | MODIFIER | c.313-27062delA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62799003 | ||||||
| chr2:62799514 | A | G | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.313-26573A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62799514 | |||||||
| chr2:62799535 | C | A | 2 | a0001c0001t0001g0043 a0001c0001t0001g0044 |
2 | HG02809.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.313-26552C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62799535 | |||||||
| chr2:62799705 | G | A | 1 | a0001c0001t0001g0007 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.313-26382G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62799705 | |||||||
| chr2:62799760 | T | C | 2 | a0001c0001t0001g0138 a0001c0001t0001g0148 |
2 | HG00544.hp1 NA19009.hp2 |
intron_variant | MODIFIER | c.313-26327T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62799760 | |||||||
| chr2:62800184 | A | G | 1 | a0001c0001t0001g0154 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.313-25903A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62800184 | |||||||
| chr2:62800202 | T | G | 16 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(13): Show |
16 | HG00099.hp1 HG00639.hp1 HG00738.hp1 others(13): Show |
intron_variant | MODIFIER | c.313-25885T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62800202 | |||||||
| chr2:62800530 | T | C | 1 | a0001c0001t0001g0064 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.313-25557T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62800530 | |||||||
| chr2:62800536 | C | T | 91 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(88): Show |
91 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(88): Show |
intron_variant | MODIFIER | c.313-25551C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62800536 | |||||||
| chr2:62800604 | T | A | 1 | a0001c0001t0001g0162 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.313-25483T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62800604 | |||||||
| chr2:62801937 | G | A | 2 | a0002c0002t0001g0005 a0002c0002t0001g0131 |
2 | HG00438.hp1 NA18612.hp2 |
intron_variant | MODIFIER | c.313-24150G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62801937 | |||||||
| chr2:62801976 | C | G | 1 | a0001c0001t0001g0192 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.313-24111C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62801976 | |||||||
| chr2:62802435 | G | C | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.313-23652G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62802435 | |||||||
| chr2:62802444 | G | A | 1 | a0001c0004t0001g0121 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.313-23643G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62802444 | |||||||
| chr2:62802719 | C | CT | 13 | a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0001g0050 others(10): Show |
13 | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(10): Show |
intron_variant | MODIFIER | c.313-23345dupT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62802719 | ||||||
| chr2:62802719 | CT | C | 8 | a0001c0001t0001g0074 a0001c0001t0001g0119 a0001c0001t0001g0120 others(5): Show |
8 | HG02015.hp2 HG02735.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.313-23345delT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62802719 | ||||||
| chr2:62802773 | G | A | 1 | a0001c0001t0002g0110 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.313-23314G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62802773 | |||||||
| chr2:62802798 | C | A | 1 | a0001c0001t0001g0174 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.313-23289C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62802798 | |||||||
| chr2:62802882 | G | A | 1 | a0001c0001t0002g0176 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.313-23205G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62802882 | |||||||
| chr2:62803234 | CA | C | 36 | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0022 others(33): Show |
36 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(33): Show |
intron_variant | MODIFIER | c.313-22837delA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62803234 | ||||||
| chr2:62803270 | T | TA | 2 | a0001c0001t0002g0090 a0001c0001t0002g0096 |
2 | HG00639.hp2 HG02698.hp1 |
intron_variant | MODIFIER | c.313-22816dupA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62803270 | ||||||
| chr2:62803574 | T | C | 1 | a0001c0001t0001g0072 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.313-22513T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62803574 | |||||||
| chr2:62803811 | C | T | 2 | a0001c0004t0003g0114 a0001c0004t0003g0115 |
2 | HG02280.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.313-22276C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62803811 | |||||||
| chr2:62803880 | C | T | 7 | a0001c0001t0001g0074 a0001c0003t0001g0186 a0001c0003t0001g0187 others(4): Show |
7 | HG02717.hp2 HG02735.hp2 HG03130.hp1 others(4): Show |
intron_variant | MODIFIER | c.313-22207C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62803880 | |||||||
| chr2:62803926 | GC | G | 91 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(88): Show |
91 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(88): Show |
intron_variant | MODIFIER | c.313-22158delC | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62803926 | ||||||
| chr2:62804063 | T | C | 6 | a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG00642.hp1 HG01261.hp1 HG01361.hp1 others(3): Show |
intron_variant | MODIFIER | c.313-22024T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62804063 | |||||||
| chr2:62804067 | T | C | 1 | a0001c0001t0001g0074 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.313-22020T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62804067 | |||||||
| chr2:62804243 | C | T | 1 | a0001c0001t0002g0176 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.313-21844C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62804243 | |||||||
| chr2:62804592 | C | T | 2 | a0001c0001t0001g0062 a0001c0001t0001g0065 |
2 | HG03139.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.313-21495C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62804592 | |||||||
| chr2:62804787 | C | T | 6 | a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG00642.hp1 HG01261.hp1 HG01361.hp1 others(3): Show |
intron_variant | MODIFIER | c.313-21300C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62804787 | |||||||
| chr2:62804791 | C | T | 4 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show |
4 | HG02258.hp2 HG02717.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.313-21296C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62804791 | |||||||
| chr2:62804886 | C | T | 1 | a0001c0001t0002g0081 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.313-21201C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62804886 | |||||||
| chr2:62804983 | C | T | 7 | a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0001g0070 others(4): Show |
7 | HG00642.hp1 HG01243.hp2 HG01261.hp1 others(4): Show |
intron_variant | MODIFIER | c.313-21104C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62804983 | |||||||
| chr2:62805468 | C | CT | 7 | a0001c0001t0001g0044 a0001c0001t0001g0077 a0001c0001t0001g0078 others(4): Show |
7 | HG02258.hp2 HG02717.hp1 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.313-20602dupT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62805468 | ||||||
| chr2:62805468 | CT | C | 12 | a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0019 others(9): Show |
12 | HG00642.hp1 HG01261.hp1 HG01361.hp1 others(9): Show |
intron_variant | MODIFIER | c.313-20602delT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62805468 | ||||||
| chr2:62805561 | A | T | 103 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(100): Show |
103 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(100): Show |
intron_variant | MODIFIER | c.313-20526A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62805561 | |||||||
| chr2:62805849 | A | T | 1 | a0001c0001t0001g0184 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.313-20238A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62805849 | |||||||
| chr2:62805939 | A | G | 1 | a0001c0001t0001g0078 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.313-20148A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62805939 | |||||||
| chr2:62805983 | A | AT | 96 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(93): Show |
96 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(93): Show |
intron_variant | MODIFIER | c.313-20093dupT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62805983 | ||||||
| chr2:62806064 | C | T | 2 | a0001c0001t0001g0171 a0001c0001t0001g0172 |
2 | HG01346.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.313-20023C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62806064 | |||||||
| chr2:62806295 | T | C | 6 | a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG00642.hp1 HG01261.hp1 HG01361.hp1 others(3): Show |
intron_variant | MODIFIER | c.313-19792T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62806295 | |||||||
| chr2:62806498 | G | A | 1 | a0001c0001t0001g0077 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.313-19589G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62806498 | |||||||
| chr2:62806657 | T | A | 3 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | HG01256.hp1 HG01258.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.313-19430T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62806657 | |||||||
| chr2:62806725 | T | G | 1 | a0001c0001t0001g0181 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.313-19362T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62806725 | |||||||
| chr2:62806912 | C | T | 6 | a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG00642.hp1 HG01261.hp1 HG01361.hp1 others(3): Show |
intron_variant | MODIFIER | c.313-19175C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62806912 | |||||||
| chr2:62806972 | C | G | 1 | a0001c0001t0001g0028 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.313-19115C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62806972 | |||||||
| chr2:62807362 | A | G | 2 | a0001c0001t0001g0140 a0001c0001t0002g0143 |
2 | NA18963.hp2 NA18998.hp2 |
intron_variant | MODIFIER | c.313-18725A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62807362 | |||||||
| chr2:62807521 | C | T | 2 | a0001c0001t0001g0029 a0001c0001t0001g0034 |
2 | HG03239.hp1 HG03831.hp1 |
intron_variant | MODIFIER | c.313-18566C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62807521 | |||||||
| chr2:62807548 | CA | C | 7 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 others(4): Show |
7 | NA18952.hp1 NA18962.hp1 NA18972.hp1 others(4): Show |
intron_variant | MODIFIER | c.313-18531delA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62807548 | ||||||
| chr2:62807553 | A | T | 7 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 others(4): Show |
7 | NA18952.hp1 NA18962.hp1 NA18972.hp1 others(4): Show |
intron_variant | MODIFIER | c.313-18534A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62807553 | |||||||
| chr2:62807735 | A | G | 103 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(100): Show |
103 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(100): Show |
intron_variant | MODIFIER | c.313-18352A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62807735 | |||||||
| chr2:62807941 | C | G | 1 | a0001c0001t0002g0111 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.313-18146C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62807941 | |||||||
| chr2:62808001 | C | T | 1 | a0001c0001t0001g0043 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.313-18086C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62808001 | |||||||
| chr2:62808050 | C | T | 2 | a0001c0001t0001g0035 a0001c0001t0001g0036 |
2 | HG01884.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.313-18037C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62808050 | |||||||
| chr2:62808218 | CT | C | 16 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(13): Show |
16 | HG00099.hp1 HG00639.hp1 HG00738.hp1 others(13): Show |
intron_variant | MODIFIER | c.313-17854delT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62808218 | ||||||
| chr2:62808338 | T | C | 1 | a0001c0001t0001g0075 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.313-17749T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62808338 | |||||||
| chr2:62808833 | T | C | 2 | a0001c0001t0001g0043 a0001c0001t0001g0044 |
2 | HG02809.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.313-17254T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62808833 | |||||||
| chr2:62808840 | C | T | 6 | a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG00642.hp1 HG01261.hp1 HG01361.hp1 others(3): Show |
intron_variant | MODIFIER | c.313-17247C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62808840 | |||||||
| chr2:62809004 | C | G | 6 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(3): Show |
6 | HG02109.hp2 HG02280.hp1 HG03098.hp2 others(3): Show |
intron_variant | MODIFIER | c.313-17083C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62809004 | |||||||
| chr2:62809074 | C | T | 1 | a0001c0001t0001g0064 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.313-17013C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62809074 | |||||||
| chr2:62809292 | G | GA | 29 | a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0064 others(26): Show |
29 | HG00544.hp1 HG00621.hp1 HG01257.hp1 others(26): Show |
intron_variant | MODIFIER | c.313-16772dupA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62809292 | ||||||
| chr2:62809305 | A | AC | 6 | a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG00642.hp1 HG01261.hp1 HG01361.hp1 others(3): Show |
intron_variant | MODIFIER | c.313-16782_313-1678 others(5): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62809305 | |||||||
| chr2:62809317 | A | G | 2 | a0001c0004t0003g0114 a0001c0004t0003g0115 |
2 | HG02280.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.313-16770A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62809317 | |||||||
| chr2:62809361 | C | T | 1 | a0001c0001t0001g0035 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.313-16726C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62809361 | |||||||
| chr2:62809372 | A | G | 2 | a0001c0001t0001g0169 a0001c0001t0001g0170 |
2 | HG03491.hp1 HG03927.hp1 |
intron_variant | MODIFIER | c.313-16715A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62809372 | |||||||
| chr2:62809464 | G | A | 1 | a0001c0001t0001g0132 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.313-16623G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62809464 | |||||||
| chr2:62809661 | C | G | 4 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show |
4 | HG02258.hp2 HG02717.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.313-16426C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62809661 | |||||||
| chr2:62809802 | A | G | 1 | a0001c0001t0001g0130 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.313-16285A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62809802 | |||||||
| chr2:62809852 | A | T | 2 | a0001c0001t0001g0062 a0001c0001t0001g0065 |
2 | HG03139.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.313-16235A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62809852 | |||||||
| chr2:62810131 | A | G | 1 | a0001c0001t0002g0094 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.313-15956A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62810131 | |||||||
| chr2:62810395 | T | G | 2 | a0001c0001t0001g0043 a0001c0001t0001g0044 |
2 | HG02809.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.313-15692T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62810395 | |||||||
| chr2:62810634 | G | A | 1 | a0001c0001t0001g0185 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.313-15453G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62810634 | |||||||
| chr2:62810767 | A | G | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.313-15320A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62810767 | |||||||
| chr2:62810802 | C | T | 6 | a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG00642.hp1 HG01261.hp1 HG01361.hp1 others(3): Show |
intron_variant | MODIFIER | c.313-15285C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62810802 | |||||||
| chr2:62810838 | T | C | 1 | a0001c0001t0001g0137 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.313-15249T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62810838 | |||||||
| chr2:62810971 | T | G | 1 | a0001c0001t0002g0099 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.313-15116T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62810971 | |||||||
| chr2:62811231 | T | C | 1 | a0001c0001t0002g0093 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.313-14856T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62811231 | |||||||
| chr2:62812334 | G | A | 10 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(7): Show |
10 | HG02109.hp2 HG02280.hp1 HG02559.hp2 others(7): Show |
intron_variant | MODIFIER | c.313-13753G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62812334 | |||||||
| chr2:62812672 | T | C | 1 | a0001c0001t0001g0150 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.313-13415T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62812672 | |||||||
| chr2:62813260 | C | T | 1 | a0001c0001t0001g0137 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.313-12827C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62813260 | |||||||
| chr2:62813261 | GGTAGGCC others(3): Show |
G | 2 | a0001c0001t0002g0091 a0001c0007t0002g0097 |
2 | HG01070.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.313-12823_313-1281 others(14): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62813261 | ||||||
| chr2:62813296 | T | C | 1 | a0001c0003t0001g0188 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.313-12791T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62813296 | |||||||
| chr2:62813341 | T | C | 3 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | HG01256.hp1 HG01258.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.313-12746T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62813341 | |||||||
| chr2:62813367 | A | G | 1 | a0001c0001t0001g0173 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.313-12720A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62813367 | |||||||
| chr2:62813607 | T | A | 1 | a0001c0001t0002g0102 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.313-12480T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62813607 | |||||||
| chr2:62813817 | T | C | 1 | a0001c0001t0001g0183 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.313-12270T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62813817 | |||||||
| chr2:62814082 | A | C | 1 | a0001c0001t0001g0028 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.313-12005A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62814082 | |||||||
| chr2:62814721 | A | G | 5 | a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0032 others(2): Show |
5 | HG00280.hp2 HG00738.hp2 HG01074.hp1 others(2): Show |
intron_variant | MODIFIER | c.313-11366A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62814721 | |||||||
| chr2:62815008 | C | T | 4 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show |
4 | HG02258.hp2 HG02717.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.313-11079C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62815008 | |||||||
| chr2:62815030 | A | G | 1 | a0001c0001t0001g0181 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.313-11057A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62815030 | |||||||
| chr2:62815116 | C | T | 14 | a0001c0001t0001g0194 a0002c0002t0001g0004 a0002c0002t0001g0005 others(11): Show |
14 | HG00438.hp1 HG01074.hp2 HG01123.hp1 others(11): Show |
intron_variant | MODIFIER | c.313-10971C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62815116 | |||||||
| chr2:62815327 | C | G | 2 | a0001c0001t0001g0169 a0001c0001t0001g0170 |
2 | HG03491.hp1 HG03927.hp1 |
intron_variant | MODIFIER | c.313-10760C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62815327 | |||||||
| chr2:62815555 | G | A | 7 | a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0001g0070 others(4): Show |
7 | HG00642.hp1 HG01243.hp2 HG01261.hp1 others(4): Show |
intron_variant | MODIFIER | c.313-10532G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62815555 | |||||||
| chr2:62815733 | A | G | 10 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(7): Show |
10 | HG02109.hp2 HG02280.hp1 HG02559.hp2 others(7): Show |
intron_variant | MODIFIER | c.313-10354A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62815733 | |||||||
| chr2:62815830 | G | A | 6 | a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0188 others(3): Show |
6 | HG02717.hp2 HG03130.hp1 HG03540.hp2 others(3): Show |
intron_variant | MODIFIER | c.313-10257G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62815830 | |||||||
| chr2:62816003 | A | G | 7 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(4): Show |
7 | HG02109.hp2 HG02280.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.313-10084A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62816003 | |||||||
| chr2:62816198 | C | G | 1 | a0001c0001t0001g0124 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.313-9889C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62816198 | |||||||
| chr2:62816275 | A | G | 6 | a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG00642.hp1 HG01261.hp1 HG01361.hp1 others(3): Show |
intron_variant | MODIFIER | c.313-9812A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62816275 | |||||||
| chr2:62816417 | A | G | 1 | a0002c0002t0001g0004 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.313-9670A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62816417 | |||||||
| chr2:62816511 | A | G | 4 | a0001c0004t0001g0118 a0001c0004t0001g0121 a0001c0004t0003g0114 others(1): Show |
4 | HG01167.hp2 HG02280.hp2 HG02809.hp2 others(1): Show |
intron_variant | MODIFIER | c.313-9576A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62816511 | |||||||
| chr2:62816708 | G | A | 1 | a0001c0001t0001g0193 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.313-9379G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62816708 | |||||||
| chr2:62817469 | G | A | 1 | a0001c0001t0002g0099 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.313-8618G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62817469 | |||||||
| chr2:62817520 | G | A | 37 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(34): Show |
37 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(34): Show |
intron_variant | MODIFIER | c.313-8567G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62817520 | |||||||
| chr2:62817793 | AAG | A | 13 | a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0008 others(10): Show |
13 | HG00438.hp1 HG01123.hp1 HG01361.hp2 others(10): Show |
intron_variant | MODIFIER | c.313-8291_313-8290d others(4): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62817793 | ||||||
| chr2:62817947 | A | G | 1 | a0001c0001t0002g0110 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.313-8140A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62817947 | |||||||
| chr2:62818301 | A | G | 2 | a0001c0001t0001g0002 a0001c0001t0001g0003 |
2 | HG01256.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.313-7786A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62818301 | |||||||
| chr2:62818576 | A | T | 2 | a0001c0001t0001g0119 a0001c0001t0001g0120 |
2 | HG02922.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.313-7511A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62818576 | |||||||
| chr2:62818597 | C | T | 1 | a0001c0001t0001g0030 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.313-7490C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62818597 | |||||||
| chr2:62818853 | A | G | 35 | a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0122 others(32): Show |
35 | HG00544.hp2 HG00558.hp1 HG00639.hp2 others(32): Show |
intron_variant | MODIFIER | c.313-7234A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62818853 | |||||||
| chr2:62818904 | T | G | 87 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(84): Show |
87 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(84): Show |
intron_variant | MODIFIER | c.313-7183T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62818904 | |||||||
| chr2:62819400 | T | C | 3 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | HG01256.hp1 HG01258.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.313-6687T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62819400 | |||||||
| chr2:62819490 | G | T | 1 | a0001c0001t0001g0026 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.313-6597G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62819490 | |||||||
| chr2:62819703 | G | T | 1 | a0001c0001t0001g0130 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.313-6384G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62819703 | |||||||
| chr2:62819771 | C | CA | 10 | a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0001g0070 others(7): Show |
10 | HG00642.hp1 HG01070.hp1 HG01261.hp1 others(7): Show |
intron_variant | MODIFIER | c.313-6303dupA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62819771 | ||||||
| chr2:62819775 | A | C | 48 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(45): Show |
48 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(45): Show |
intron_variant | MODIFIER | c.313-6312A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62819775 | |||||||
| chr2:62819778 | A | C | 4 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show |
4 | HG02258.hp2 HG02717.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.313-6309A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62819778 | |||||||
| chr2:62820219 | A | G | 2 | a0001c0001t0001g0043 a0001c0001t0001g0044 |
2 | HG02809.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.313-5868A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62820219 | |||||||
| chr2:62820220 | A | G | 7 | a0001c0001t0001g0074 a0001c0003t0001g0186 a0001c0003t0001g0187 others(4): Show |
7 | HG02717.hp2 HG02735.hp2 HG03130.hp1 others(4): Show |
intron_variant | MODIFIER | c.313-5867A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62820220 | |||||||
| chr2:62820225 | G | GA | 6 | a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG00642.hp1 HG01261.hp1 HG01361.hp1 others(3): Show |
intron_variant | MODIFIER | c.313-5848dupA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62820225 | ||||||
| chr2:62820255 | G | T | 2 | a0001c0001t0001g0119 a0001c0001t0001g0120 |
2 | HG02922.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.313-5832G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62820255 | |||||||
| chr2:62820476 | A | G | 1 | a0001c0001t0001g0064 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.313-5611A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62820476 | |||||||
| chr2:62820710 | G | T | 7 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 others(4): Show |
7 | NA18952.hp1 NA18962.hp1 NA18972.hp1 others(4): Show |
intron_variant | MODIFIER | c.313-5377G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62820710 | |||||||
| chr2:62820727 | GTGTGTGT others(6): Show |
G | 1 | a0001c0001t0001g0198 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.313-5358_313-5346d others(15): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62820727 | ||||||
| chr2:62820731 | G | A | 1 | a0001c0001t0001g0185 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.313-5356G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62820731 | |||||||
| chr2:62820733 | G | A | 1 | a0001c0001t0001g0185 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.313-5354G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62820733 | |||||||
| chr2:62820733 | GTATAATA others(8): Show |
G | 1 | a0001c0001t0001g0064 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.313-5349_313-5335d others(17): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62820733 | ||||||
| chr2:62820735 | A | G | 4 | a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0098 others(1): Show |
4 | HG01981.hp2 HG03098.hp1 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.313-5352A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62820735 | |||||||
| chr2:62820737 | A | AAT | 28 | a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0025 others(25): Show |
28 | HG00099.hp2 HG00558.hp2 HG00642.hp1 others(25): Show |
intron_variant | MODIFIER | c.313-5307_313-5306d others(4): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62820737 | ||||||
| chr2:62820737 | A | AATAT | 24 | a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0039 others(21): Show |
24 | HG00280.hp2 HG00639.hp2 HG00738.hp1 others(21): Show |
intron_variant | MODIFIER | c.313-5309_313-5306d others(6): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62820737 | ||||||
| chr2:62820737 | A | AATATAT | 13 | a0001c0001t0001g0033 a0001c0001t0001g0061 a0001c0001t0001g0079 others(10): Show |
13 | HG02145.hp1 HG02155.hp2 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.313-5311_313-5306d others(8): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62820737 | ||||||
| chr2:62820737 | A | AATATATA others(1): Show |
13 | a0001c0001t0001g0054 a0001c0001t0001g0077 a0001c0001t0001g0078 others(10): Show |
13 | HG00558.hp1 HG01243.hp1 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.313-5313_313-5306d others(10): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62820737 | ||||||
| chr2:62820737 | A | AATATATA others(3): Show |
6 | a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0002g0083 others(3): Show |
6 | HG02040.hp1 HG02135.hp2 HG03490.hp1 others(3): Show |
intron_variant | MODIFIER | c.313-5315_313-5306d others(12): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62820737 | ||||||
| chr2:62820737 | A | AATATATA others(5): Show |
1 | a0001c0001t0001g0048 | 1 | NA18999.hp2 | intron_variant | MODIFIER | c.313-5317_313-5306d others(14): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62820737 | ||||||
| chr2:62820737 | A | AATATATA others(7): Show |
1 | a0001c0001t0002g0080 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.313-5319_313-5306d others(16): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62820737 | ||||||
| chr2:62820737 | A | AATATATA others(11): Show |
1 | a0001c0001t0004g0089 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.313-5323_313-5306d others(20): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62820737 | ||||||
| chr2:62820737 | A | ATAATAT | 2 | a0001c0001t0001g0062 a0001c0001t0001g0098 |
2 | HG01981.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.313-5350_313-5349i others(8): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62820737 | |||||||
| chr2:62820737 | AAT | A | 23 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0016 others(20): Show |
23 | HG00099.hp1 HG00544.hp1 HG01496.hp1 others(20): Show |
intron_variant | MODIFIER | c.313-5307_313-5306d others(4): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62820737 | ||||||
| chr2:62820737 | AATAT | A | 22 | a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0019 others(19): Show |
22 | HG00621.hp1 HG01175.hp2 HG01361.hp1 others(19): Show |
intron_variant | MODIFIER | c.313-5309_313-5306d others(6): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62820737 | ||||||
| chr2:62820737 | AATATAT | A | 14 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 others(11): Show |
14 | HG00280.hp1 HG00639.hp1 HG01257.hp1 others(11): Show |
intron_variant | MODIFIER | c.313-5311_313-5306d others(8): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62820737 | ||||||
| chr2:62820737 | AATATATA others(1): Show |
A | 11 | a0001c0001t0001g0057 a0001c0001t0001g0124 a0001c0001t0001g0128 others(8): Show |
11 | HG00642.hp2 HG01123.hp2 HG01167.hp1 others(8): Show |
intron_variant | MODIFIER | c.313-5313_313-5306d others(10): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62820737 | ||||||
| chr2:62820737 | AATATATA others(3): Show |
A | 5 | a0001c0001t0001g0021 a0001c0001t0001g0058 a0001c0001t0001g0059 others(2): Show |
5 | HG03130.hp2 NA18747.hp1 NA18952.hp2 others(2): Show |
intron_variant | MODIFIER | c.313-5315_313-5306d others(12): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62820737 | ||||||
| chr2:62820737 | AATATATA others(5): Show |
A | 3 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0002g0092 |
3 | HG00544.hp2 HG02135.hp1 HG02165.hp2 |
intron_variant | MODIFIER | c.313-5317_313-5306d others(14): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62820737 | ||||||
| chr2:62820737 | AATATATA others(7): Show |
A | 2 | a0001c0001t0001g0141 a0001c0001t0001g0147 |
2 | HG02071.hp1 NA19057.hp1 |
intron_variant | MODIFIER | c.313-5319_313-5306d others(16): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62820737 | ||||||
| chr2:62820737 | AATATATA others(11): Show |
A | 1 | a0001c0001t0002g0093 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.313-5323_313-5306d others(20): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62820737 | ||||||
| chr2:62820737 | AATATATA others(19): Show |
A | 1 | a0001c0001t0001g0154 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.313-5331_313-5306d others(28): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | 62820737 | ||||||
| chr2:62820740 | AT | A | 2 | a0001c0001t0001g0123 a0001c0001t0001g0184 |
2 | HG03098.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.313-5346delT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62820740 | |||||||
| chr2:62820750 | A | G | 1 | a0001c0001t0001g0064 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.313-5337A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62820750 | |||||||
| chr2:62820838 | G | C | 85 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(82): Show |
85 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(82): Show |
intron_variant | MODIFIER | c.313-5249G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62820838 | |||||||
| chr2:62820847 | A | C | 1 | a0001c0001t0001g0198 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.313-5240A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62820847 | |||||||
| chr2:62820858 | C | G | 1 | a0001c0001t0001g0044 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.313-5229C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62820858 | |||||||
| chr2:62821117 | A | G | 2 | a0001c0001t0001g0116 a0001c0001t0001g0117 |
2 | HG02818.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.313-4970A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62821117 | |||||||
| chr2:62821132 | G | C | 6 | a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG00642.hp1 HG01261.hp1 HG01361.hp1 others(3): Show |
intron_variant | MODIFIER | c.313-4955G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62821132 | |||||||
| chr2:62821282 | A | G | 37 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(34): Show |
37 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(34): Show |
intron_variant | MODIFIER | c.313-4805A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62821282 | |||||||
| chr2:62821313 | A | G | 1 | a0001c0001t0001g0198 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.313-4774A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62821313 | |||||||
| chr2:62821483 | G | A | 1 | a0001c0001t0002g0096 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.313-4604G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62821483 | |||||||
| chr2:62822152 | T | C | 1 | a0001c0003t0001g0191 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.313-3935T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62822152 | |||||||
| chr2:62822253 | T | A | 2 | a0001c0001t0001g0043 a0001c0001t0001g0044 |
2 | HG02809.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.313-3834T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62822253 | |||||||
| chr2:62822341 | T | C | 2 | a0001c0004t0001g0118 a0001c0004t0001g0121 |
2 | HG01167.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.313-3746T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62822341 | |||||||
| chr2:62822623 | C | T | 1 | a0001c0001t0001g0043 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.313-3464C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62822623 | |||||||
| chr2:62822963 | T | A | 1 | a0001c0001t0001g0043 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.313-3124T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62822963 | |||||||
| chr2:62823309 | T | G | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.313-2778T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62823309 | |||||||
| chr2:62824232 | A | G | 7 | a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0001g0070 others(4): Show |
7 | HG00642.hp1 HG01243.hp2 HG01261.hp1 others(4): Show |
intron_variant | MODIFIER | c.313-1855A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62824232 | |||||||
| chr2:62824700 | G | C | 1 | a0001c0001t0001g0152 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.313-1387G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62824700 | |||||||
| chr2:62824907 | G | T | 6 | a0001c0001t0001g0123 a0001c0001t0001g0133 a0001c0001t0001g0134 others(3): Show |
6 | HG02145.hp2 HG02559.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.313-1180G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62824907 | |||||||
| chr2:62825090 | A | C | 6 | a0001c0001t0001g0123 a0001c0001t0001g0133 a0001c0001t0001g0134 others(3): Show |
6 | HG02145.hp2 HG02559.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.313-997A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62825090 | |||||||
| chr2:62825240 | G | A | 1 | a0001c0001t0001g0130 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.313-847G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62825240 | |||||||
| chr2:62825564 | A | T | 1 | a0001c0007t0002g0097 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.313-523A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62825564 | |||||||
| chr2:62825702 | T | A | 1 | a0001c0001t0001g0117 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.313-385T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62825702 | |||||||
| chr2:62825825 | C | T | 37 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(34): Show |
37 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(34): Show |
intron_variant | MODIFIER | c.313-262C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62825825 | |||||||
| chr2:62825908 | T | A | 3 | a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 |
3 | HG02559.hp1 HG02970.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.313-179T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62825908 | |||||||
| chr2:62825913 | G | A | 99 | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0022 others(96): Show |
99 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(96): Show |
intron_variant | MODIFIER | c.313-174G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62825913 | |||||||
| chr2:62826045 | A | G | 2 | a0001c0001t0001g0043 a0001c0001t0001g0044 |
2 | HG02809.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.313-42A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62826045 | |||||||
| chr2:62826289 | A | T | 5 | a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0188 others(2): Show |
5 | HG02717.hp2 HG03130.hp1 NA18906.hp1 others(2): Show |
intron_variant | MODIFIER | c.494+21A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | chr2 | 62826289 | |||||||
| chr2:62826944 | C | T | 1 | a0001c0001t0001g0029 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.494+676C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | chr2 | 62826944 | |||||||
| chr2:62826960 | G | A | 4 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show |
4 | HG02258.hp2 HG02717.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.494+692G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | chr2 | 62826960 | |||||||
| chr2:62827190 | A | T | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.494+922A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | chr2 | 62827190 | |||||||
| chr2:62827229 | C | T | 1 | a0002c0002t0001g0131 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.494+961C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | chr2 | 62827229 | |||||||
| chr2:62827277 | G | T | 1 | a0001c0001t0001g0194 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.494+1009G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | chr2 | 62827277 | |||||||
| chr2:62827723 | A | G | 2 | a0001c0001t0002g0091 a0001c0007t0002g0097 |
2 | HG01070.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.494+1455A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | chr2 | 62827723 | |||||||
| chr2:62827958 | C | T | 1 | a0002c0002t0001g0005 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.494+1690C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | chr2 | 62827958 | |||||||
| chr2:62828204 | C | T | 1 | a0001c0001t0001g0170 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.494+1936C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | chr2 | 62828204 | |||||||
| chr2:62828412 | G | A | 1 | a0001c0001t0001g0073 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.494+2144G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | chr2 | 62828412 | |||||||
| chr2:62828436 | A | T | 1 | a0001c0001t0002g0091 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.494+2168A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | chr2 | 62828436 | |||||||
| chr2:62829115 | TAAAAAAA others(6): Show |
T | 1 | a0002c0002t0001g0195 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.495-1890_495-1878d others(15): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | 62829115 | ||||||
| chr2:62829163 | A | T | 1 | a0001c0001t0001g0043 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.495-1856A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | chr2 | 62829163 | |||||||
| chr2:62829270 | C | T | 1 | a0001c0001t0001g0123 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.495-1749C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | chr2 | 62829270 | |||||||
| chr2:62829371 | C | G | 1 | a0001c0001t0001g0149 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.495-1648C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | chr2 | 62829371 | |||||||
| chr2:62829571 | T | TTG | 6 | a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG00642.hp1 HG01261.hp1 HG01361.hp1 others(3): Show |
intron_variant | MODIFIER | c.495-1424_495-1423d others(4): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | 62829571 | ||||||
| chr2:62829571 | TTG | T | 139 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(136): Show |
139 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(136): Show |
intron_variant | MODIFIER | c.495-1424_495-1423d others(4): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | 62829571 | ||||||
| chr2:62829597 | A | G | 1 | a0001c0006t0001g0160 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.495-1422A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | chr2 | 62829597 | |||||||
| chr2:62830125 | A | G | 1 | a0001c0001t0001g0040 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.495-894A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | chr2 | 62830125 | |||||||
| chr2:62830140 | A | T | 1 | a0001c0001t0001g0040 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.495-879A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | chr2 | 62830140 | |||||||
| chr2:62830151 | TAGACACA others(1): Show |
T | 7 | a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 others(4): Show |
7 | HG00280.hp2 HG00738.hp2 HG01981.hp2 others(4): Show |
intron_variant | MODIFIER | c.495-866_495-859del others(8): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | 62830151 | ||||||
| chr2:62830151 | TAGACACA others(3): Show |
T | 1 | a0001c0001t0001g0056 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.495-866_495-857del others(10): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | 62830151 | ||||||
| chr2:62830153 | G | C | 2 | a0001c0001t0001g0122 a0001c0001t0001g0136 |
2 | HG02145.hp2 NA19077.hp1 |
intron_variant | MODIFIER | c.495-866G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | chr2 | 62830153 | |||||||
| chr2:62830153 | G | GAC | 24 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(21): Show |
24 | HG00438.hp1 HG00621.hp2 HG01071.hp2 others(21): Show |
intron_variant | MODIFIER | c.495-824_495-823dup others(2): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | 62830153 | ||||||
| chr2:62830153 | G | GACAC | 25 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 others(22): Show |
25 | HG00438.hp2 HG00544.hp1 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.495-826_495-823dup others(4): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | 62830153 | ||||||
| chr2:62830153 | G | GACACAC | 26 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(23): Show |
26 | HG00280.hp1 HG00558.hp2 HG00639.hp2 others(23): Show |
intron_variant | MODIFIER | c.495-828_495-823dup others(6): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | 62830153 | ||||||
| chr2:62830153 | G | GACACACA others(1): Show |
21 | a0001c0001t0001g0057 a0001c0001t0001g0108 a0001c0001t0001g0145 others(18): Show |
21 | HG00099.hp1 HG00621.hp1 HG00738.hp1 others(18): Show |
intron_variant | MODIFIER | c.495-830_495-823dup others(8): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | 62830153 | ||||||
| chr2:62830153 | G | GACACACA others(3): Show |
4 | a0001c0001t0002g0037 a0001c0001t0002g0168 a0003c0005t0001g0163 others(1): Show |
4 | HG01070.hp2 HG01071.hp1 HG01981.hp1 others(1): Show |
intron_variant | MODIFIER | c.495-832_495-823dup others(10): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | 62830153 | ||||||
| chr2:62830153 | G | GACACACA others(5): Show |
1 | a0001c0001t0001g0165 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.495-834_495-823dup others(12): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | 62830153 | ||||||
| chr2:62830153 | G | GACACACA others(7): Show |
1 | a0001c0001t0002g0092 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.495-836_495-823dup others(14): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | 62830153 | ||||||
| chr2:62830153 | GAC | G | 7 | a0001c0001t0001g0079 a0001c0001t0001g0134 a0001c0001t0001g0135 others(4): Show |
7 | HG02622.hp2 HG02717.hp1 HG02970.hp1 others(4): Show |
intron_variant | MODIFIER | c.495-824_495-823del others(2): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | 62830153 | ||||||
| chr2:62830153 | GACAC | G | 3 | a0001c0001t0001g0077 a0001c0001t0001g0181 a0001c0008t0001g0076 |
3 | HG03195.hp1 HG03453.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.495-826_495-823del others(4): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | 62830153 | ||||||
| chr2:62830153 | GACACACA others(3): Show |
G | 25 | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 others(22): Show |
25 | HG00099.hp2 HG00642.hp2 HG01074.hp1 others(22): Show |
intron_variant | MODIFIER | c.495-832_495-823del others(10): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | 62830153 | ||||||
| chr2:62830153 | GACACACA others(9): Show |
G | 2 | a0001c0001t0001g0062 a0001c0001t0001g0065 |
2 | HG03139.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.495-838_495-823del others(16): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | 62830153 | ||||||
| chr2:62830153 | GACACACA others(11): Show |
G | 11 | a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 others(8): Show |
11 | HG01175.hp2 HG01257.hp1 HG02040.hp2 others(8): Show |
intron_variant | MODIFIER | c.495-840_495-823del others(18): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | 62830153 | ||||||
| chr2:62830153 | GACACACA others(15): Show |
G | 2 | a0001c0001t0001g0116 a0001c0001t0001g0117 |
2 | HG02818.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.495-844_495-823del others(22): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | 62830153 | ||||||
| chr2:62830159 | C | T | 1 | a0001c0001t0001g0040 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.495-860C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | chr2 | 62830159 | |||||||
| chr2:62830161 | C | G | 1 | a0001c0001t0001g0040 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.495-858C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | chr2 | 62830161 | |||||||
| chr2:62830161 | C | T | 7 | a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 others(4): Show |
7 | HG00280.hp2 HG00738.hp2 HG01981.hp2 others(4): Show |
intron_variant | MODIFIER | c.495-858C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | chr2 | 62830161 | |||||||
| chr2:62830163 | C | G | 7 | a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 others(4): Show |
7 | HG00280.hp2 HG00738.hp2 HG01981.hp2 others(4): Show |
intron_variant | MODIFIER | c.495-856C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | chr2 | 62830163 | |||||||
| chr2:62830163 | C | T | 1 | a0001c0001t0001g0056 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.495-856C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | chr2 | 62830163 | |||||||
| chr2:62830165 | C | G | 1 | a0001c0001t0001g0056 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.495-854C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | chr2 | 62830165 | |||||||
| chr2:62830195 | C | CACACAT | 3 | a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0001g0070 |
3 | HG01361.hp1 HG01515.hp2 HG02300.hp2 |
intron_variant | MODIFIER | c.495-823_495-822ins others(6): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | 62830195 | ||||||
| chr2:62830195 | C | CACAT | 2 | a0001c0001t0001g0072 a0001c0001t0001g0073 |
2 | HG00642.hp1 HG02698.hp2 |
intron_variant | MODIFIER | c.495-823_495-822ins others(4): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | 62830195 | ||||||
| chr2:62830195 | C | T | 9 | a0001c0001t0001g0044 a0001c0001t0002g0101 a0001c0003t0001g0191 others(6): Show |
9 | HG00558.hp1 HG01243.hp2 HG01361.hp2 others(6): Show |
intron_variant | MODIFIER | c.495-824C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | chr2 | 62830195 | |||||||
| chr2:62830197 | T | C | 10 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(7): Show |
10 | HG01884.hp2 HG02155.hp2 HG02300.hp1 others(7): Show |
intron_variant | MODIFIER | c.495-822T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | chr2 | 62830197 | |||||||
| chr2:62830203 | T | C | 11 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(8): Show |
11 | HG00558.hp1 HG01361.hp2 HG01496.hp2 others(8): Show |
intron_variant | MODIFIER | c.495-816T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | chr2 | 62830203 | |||||||
| chr2:62830207 | C | T | 11 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(8): Show |
11 | HG00558.hp1 HG01361.hp2 HG01496.hp2 others(8): Show |
intron_variant | MODIFIER | c.495-812C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | chr2 | 62830207 | |||||||
| chr2:62830211 | T | C | 11 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(8): Show |
11 | HG00558.hp1 HG01361.hp2 HG01496.hp2 others(8): Show |
intron_variant | MODIFIER | c.495-808T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | chr2 | 62830211 | |||||||
| chr2:62830211 | T | TAC | 120 | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0022 others(117): Show |
120 | HG00099.hp2 HG00280.hp2 HG00438.hp1 others(117): Show |
intron_variant | MODIFIER | c.495-796_495-795dup others(2): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | 62830211 | ||||||
| chr2:62830280 | C | T | 2 | a0001c0001t0001g0119 a0001c0001t0001g0120 |
2 | HG02922.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.495-739C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | chr2 | 62830280 | |||||||
| chr2:62830284 | T | C | 1 | a0001c0003t0001g0187 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.495-735T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | chr2 | 62830284 | |||||||
| chr2:62830344 | T | G | 35 | a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0122 others(32): Show |
35 | HG00544.hp2 HG00558.hp1 HG00639.hp2 others(32): Show |
intron_variant | MODIFIER | c.495-675T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | chr2 | 62830344 | |||||||
| chr2:62830428 | C | T | 10 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(7): Show |
10 | HG02109.hp2 HG02280.hp1 HG02559.hp2 others(7): Show |
intron_variant | MODIFIER | c.495-591C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | chr2 | 62830428 | |||||||
| chr2:62830503 | T | C | 6 | a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG00642.hp1 HG01261.hp1 HG01361.hp1 others(3): Show |
intron_variant | MODIFIER | c.495-516T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | chr2 | 62830503 | |||||||
| chr2:62830768 | C | T | 1 | a0001c0001t0001g0173 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.495-251C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | chr2 | 62830768 | |||||||
| chr2:62831514 | C | T | 1 | a0001c0001t0001g0061 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.634+356C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62831514 | |||||||
| chr2:62831757 | G | T | 1 | a0001c0001t0001g0078 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.634+599G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62831757 | |||||||
| chr2:62832014 | C | T | 2 | a0001c0001t0001g0119 a0001c0001t0001g0120 |
2 | HG02922.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.634+856C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62832014 | |||||||
| chr2:62832438 | C | CT | 48 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(45): Show |
48 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(45): Show |
intron_variant | MODIFIER | c.634+1299dupT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | 62832438 | ||||||
| chr2:62832792 | G | A | 119 | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0022 others(116): Show |
119 | HG00099.hp2 HG00280.hp2 HG00438.hp1 others(116): Show |
intron_variant | MODIFIER | c.634+1634G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62832792 | |||||||
| chr2:62832800 | C | G | 1 | a0002c0002t0001g0131 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.634+1642C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62832800 | |||||||
| chr2:62832944 | C | T | 6 | a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG00642.hp1 HG01261.hp1 HG01361.hp1 others(3): Show |
intron_variant | MODIFIER | c.634+1786C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62832944 | |||||||
| chr2:62833528 | G | A | 1 | a0001c0001t0001g0079 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.634+2370G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62833528 | |||||||
| chr2:62833843 | C | G | 2 | a0001c0004t0001g0118 a0001c0004t0001g0121 |
2 | HG01167.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.634+2685C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62833843 | |||||||
| chr2:62834395 | A | G | 3 | a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 |
3 | NA18952.hp2 NA18955.hp2 NA18984.hp2 |
intron_variant | MODIFIER | c.634+3237A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62834395 | |||||||
| chr2:62834774 | A | G | 2 | a0001c0001t0001g0062 a0001c0001t0001g0065 |
2 | HG03139.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.634+3616A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62834774 | |||||||
| chr2:62834826 | C | T | 1 | a0001c0001t0001g0174 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.634+3668C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62834826 | |||||||
| chr2:62835316 | T | C | 1 | a0001c0001t0001g0185 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.634+4158T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62835316 | |||||||
| chr2:62835402 | A | G | 1 | a0001c0001t0001g0036 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.634+4244A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62835402 | |||||||
| chr2:62835409 | C | A | 3 | a0002c0002t0001g0008 a0002c0002t0001g0011 a0002c0002t0001g0012 |
3 | NA18954.hp1 NA18995.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.634+4251C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62835409 | |||||||
| chr2:62835536 | A | C | 97 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(94): Show |
97 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(94): Show |
intron_variant | MODIFIER | c.634+4378A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62835536 | |||||||
| chr2:62835542 | G | A | 1 | a0001c0001t0001g0074 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.634+4384G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62835542 | |||||||
| chr2:62835685 | G | A | 1 | a0001c0001t0001g0030 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.634+4527G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62835685 | |||||||
| chr2:62835731 | G | A | 2 | a0001c0001t0001g0043 a0001c0001t0001g0044 |
2 | HG02809.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.634+4573G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62835731 | |||||||
| chr2:62835758 | A | G | 4 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(1): Show |
4 | HG01884.hp2 HG02818.hp2 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.634+4600A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62835758 | |||||||
| chr2:62835830 | C | T | 1 | a0001c0001t0001g0185 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.634+4672C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62835830 | |||||||
| chr2:62835864 | G | A | 1 | a0001c0001t0001g0030 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.634+4706G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62835864 | |||||||
| chr2:62835880 | G | C | 1 | a0001c0008t0001g0076 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.634+4722G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62835880 | |||||||
| chr2:62835921 | G | A | 1 | a0002c0002t0001g0014 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.634+4763G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62835921 | |||||||
| chr2:62835958 | G | A | 154 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(151): Show |
154 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(151): Show |
intron_variant | MODIFIER | c.634+4800G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62835958 | |||||||
| chr2:62835962 | C | G | 4 | a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 others(1): Show |
4 | HG00642.hp1 HG01243.hp2 HG01261.hp1 others(1): Show |
intron_variant | MODIFIER | c.634+4804C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62835962 | |||||||
| chr2:62835962 | C | T | 4 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show |
4 | HG02258.hp2 HG02717.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.634+4804C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62835962 | |||||||
| chr2:62836222 | G | A | 1 | a0001c0001t0001g0063 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.634+5064G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62836222 | |||||||
| chr2:62836287 | T | C | 1 | a0001c0001t0001g0038 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.634+5129T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62836287 | |||||||
| chr2:62836435 | C | T | 1 | a0001c0001t0002g0099 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.634+5277C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62836435 | |||||||
| chr2:62836455 | G | A | 1 | a0002c0002t0001g0004 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.634+5297G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62836455 | |||||||
| chr2:62836547 | C | T | 8 | a0001c0001t0001g0006 a0001c0001t0001g0127 a0001c0001t0001g0156 others(5): Show |
8 | HG00280.hp1 HG02155.hp1 HG03704.hp2 others(5): Show |
intron_variant | MODIFIER | c.634+5389C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62836547 | |||||||
| chr2:62836612 | A | G | 2 | a0001c0001t0001g0116 a0001c0001t0001g0117 |
2 | HG02818.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.634+5454A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62836612 | |||||||
| chr2:62836674 | G | A | 1 | a0001c0001t0001g0123 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.634+5516G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62836674 | |||||||
| chr2:62836714 | C | G | 1 | a0001c0001t0001g0173 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.634+5556C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62836714 | |||||||
| chr2:62836732 | G | A | 13 | a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0008 others(10): Show |
13 | HG00438.hp1 HG01123.hp1 HG01361.hp2 others(10): Show |
intron_variant | MODIFIER | c.634+5574G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62836732 | |||||||
| chr2:62836754 | A | G | 5 | a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0032 others(2): Show |
5 | HG00280.hp2 HG00738.hp2 HG01074.hp1 others(2): Show |
intron_variant | MODIFIER | c.634+5596A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62836754 | |||||||
| chr2:62836989 | C | T | 4 | a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 others(1): Show |
4 | HG00642.hp1 HG01243.hp2 HG01261.hp1 others(1): Show |
intron_variant | MODIFIER | c.634+5831C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62836989 | |||||||
| chr2:62837007 | C | A | 1 | a0001c0001t0002g0100 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.634+5849C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62837007 | |||||||
| chr2:62837008 | G | A | 1 | a0001c0001t0001g0150 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.634+5850G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62837008 | |||||||
| chr2:62837143 | G | A | 1 | a0001c0001t0001g0127 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.634+5985G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62837143 | |||||||
| chr2:62837336 | G | A | 1 | a0001c0001t0001g0061 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.634+6178G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62837336 | |||||||
| chr2:62837340 | T | C | 1 | a0001c0001t0001g0132 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.634+6182T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62837340 | |||||||
| chr2:62837436 | A | G | 1 | a0001c0001t0001g0127 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.634+6278A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62837436 | |||||||
| chr2:62837445 | C | A | 1 | a0001c0001t0001g0193 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.634+6287C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62837445 | |||||||
| chr2:62837503 | T | A | 4 | a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0067 others(1): Show |
4 | HG02109.hp2 HG02280.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.634+6345T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62837503 | |||||||
| chr2:62837602 | G | A | 1 | a0001c0001t0001g0064 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.634+6444G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62837602 | |||||||
| chr2:62837692 | A | G | 1 | a0001c0001t0001g0182 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.634+6534A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62837692 | |||||||
| chr2:62837818 | G | A | 2 | a0001c0001t0001g0119 a0001c0001t0001g0120 |
2 | HG02922.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.634+6660G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62837818 | |||||||
| chr2:62838195 | G | A | 1 | a0001c0001t0001g0185 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.634+7037G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62838195 | |||||||
| chr2:62838406 | C | T | 1 | a0001c0001t0001g0141 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.634+7248C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62838406 | |||||||
| chr2:62838540 | G | A | 1 | a0001c0001t0001g0158 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.634+7382G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62838540 | |||||||
| chr2:62838579 | T | C | 1 | a0002c0002t0001g0195 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.634+7421T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62838579 | |||||||
| chr2:62838720 | C | T | 1 | a0001c0001t0002g0088 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.634+7562C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62838720 | |||||||
| chr2:62838780 | G | C | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.634+7622G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62838780 | |||||||
| chr2:62838922 | A | G | 2 | a0001c0003t0001g0189 a0004c0009t0001g0197 |
2 | HG01243.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.634+7764A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62838922 | |||||||
| chr2:62839051 | T | G | 1 | a0001c0001t0001g0026 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.634+7893T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62839051 | |||||||
| chr2:62839109 | C | T | 1 | a0001c0001t0001g0051 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.634+7951C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62839109 | |||||||
| chr2:62839184 | A | C | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.634+8026A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62839184 | |||||||
| chr2:62839190 | C | T | 1 | a0001c0001t0001g0042 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.634+8032C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62839190 | |||||||
| chr2:62839204 | T | C | 1 | a0001c0001t0001g0098 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.634+8046T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62839204 | |||||||
| chr2:62839208 | A | G | 1 | a0001c0001t0001g0098 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.634+8050A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62839208 | |||||||
| chr2:62839210 | C | G | 1 | a0001c0001t0001g0098 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.634+8052C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62839210 | |||||||
| chr2:62839217 | A | G | 1 | a0001c0001t0001g0098 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.634+8059A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62839217 | |||||||
| chr2:62839280 | A | G | 1 | a0001c0001t0002g0092 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.634+8122A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62839280 | |||||||
| chr2:62839351 | A | G | 1 | a0001c0001t0001g0137 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.634+8193A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62839351 | |||||||
| chr2:62839448 | C | G | 1 | a0001c0001t0001g0159 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.634+8290C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62839448 | |||||||
| chr2:62839459 | C | T | 2 | a0001c0001t0001g0016 a0001c0001t0001g0017 |
2 | HG03195.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.634+8301C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62839459 | |||||||
| chr2:62839654 | C | CA | 10 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(7): Show |
10 | HG02109.hp2 HG02280.hp1 HG02559.hp2 others(7): Show |
intron_variant | MODIFIER | c.634+8500dupA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | 62839654 | ||||||
| chr2:62840016 | G | A | 3 | a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 |
3 | HG01257.hp2 HG01258.hp2 HG02293.hp1 |
intron_variant | MODIFIER | c.634+8858G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62840016 | |||||||
| chr2:62840183 | C | T | 1 | a0001c0001t0004g0089 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.634+9025C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62840183 | |||||||
| chr2:62840262 | G | T | 2 | a0001c0004t0003g0114 a0001c0004t0003g0115 |
2 | HG02280.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.634+9104G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62840262 | |||||||
| chr2:62840355 | C | T | 104 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(101): Show |
104 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(101): Show |
intron_variant | MODIFIER | c.634+9197C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62840355 | |||||||
| chr2:62840357 | G | T | 104 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(101): Show |
104 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(101): Show |
intron_variant | MODIFIER | c.634+9199G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62840357 | |||||||
| chr2:62840362 | A | G | 104 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(101): Show |
104 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(101): Show |
intron_variant | MODIFIER | c.634+9204A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62840362 | |||||||
| chr2:62840364 | A | T | 104 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(101): Show |
104 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(101): Show |
intron_variant | MODIFIER | c.634+9206A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62840364 | |||||||
| chr2:62840428 | G | A | 1 | a0001c0001t0001g0123 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.634+9270G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62840428 | |||||||
| chr2:62840468 | C | G | 1 | a0001c0001t0002g0093 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.634+9310C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62840468 | |||||||
| chr2:62840680 | G | C | 3 | a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0001g0070 |
3 | HG01361.hp1 HG01515.hp2 HG02300.hp2 |
intron_variant | MODIFIER | c.634+9522G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62840680 | |||||||
| chr2:62840787 | G | A | 2 | a0001c0001t0001g0171 a0001c0001t0001g0172 |
2 | HG01346.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.634+9629G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62840787 | |||||||
| chr2:62840843 | T | G | 2 | a0001c0001t0001g0166 a0004c0009t0001g0197 |
2 | HG00099.hp1 HG01243.hp2 |
intron_variant | MODIFIER | c.634+9685T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62840843 | |||||||
| chr2:62840871 | A | G | 7 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(4): Show |
7 | HG02109.hp2 HG02280.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.634+9713A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62840871 | |||||||
| chr2:62840899 | A | C | 1 | a0001c0001t0001g0057 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.634+9741A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62840899 | |||||||
| chr2:62840947 | C | G | 2 | a0001c0001t0001g0057 a0001c0001t0001g0183 |
2 | HG02109.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.634+9789C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62840947 | |||||||
| chr2:62841053 | C | T | 1 | a0001c0003t0001g0186 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.634+9895C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62841053 | |||||||
| chr2:62841069 | A | G | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.634+9911A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62841069 | |||||||
| chr2:62841264 | C | G | 1 | a0001c0001t0001g0144 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.634+10106C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62841264 | |||||||
| chr2:62841266 | C | G | 1 | a0001c0001t0002g0176 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.634+10108C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62841266 | |||||||
| chr2:62841271 | ATAGG | A | 2 | a0001c0001t0001g0116 a0001c0001t0001g0117 |
2 | HG02818.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.634+10115_634+1011 others(8): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | 62841271 | ||||||
| chr2:62841289 | A | C | 1 | a0001c0001t0001g0040 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.634+10131A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62841289 | |||||||
| chr2:62841352 | A | G | 1 | a0001c0001t0002g0087 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.634+10194A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62841352 | |||||||
| chr2:62841354 | G | T | 37 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(34): Show |
37 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(34): Show |
intron_variant | MODIFIER | c.634+10196G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62841354 | |||||||
| chr2:62841463 | A | T | 1 | a0002c0002t0001g0004 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.634+10305A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62841463 | |||||||
| chr2:62841465 | A | C | 2 | a0001c0001t0001g0062 a0001c0001t0001g0065 |
2 | HG03139.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.634+10307A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62841465 | |||||||
| chr2:62841764 | C | T | 2 | a0001c0001t0002g0094 a0001c0001t0002g0099 |
2 | HG01346.hp2 NA20805.hp2 |
intron_variant | MODIFIER | c.634+10606C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62841764 | |||||||
| chr2:62841977 | T | G | 117 | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0022 others(114): Show |
117 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(114): Show |
intron_variant | MODIFIER | c.634+10819T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62841977 | |||||||
| chr2:62842094 | C | CTTTTTTT others(6): Show |
1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.634+10946_634+1094 others(17): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | 62842094 | ||||||
| chr2:62842334 | G | A | 1 | a0001c0001t0001g0126 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.634+11176G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62842334 | |||||||
| chr2:62842511 | T | G | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.634+11353T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62842511 | |||||||
| chr2:62842536 | G | A | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.634+11378G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62842536 | |||||||
| chr2:62842640 | A | G | 2 | a0001c0001t0001g0057 a0001c0001t0001g0183 |
2 | HG02109.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.634+11482A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62842640 | |||||||
| chr2:62842753 | G | T | 1 | a0001c0001t0002g0081 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.634+11595G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62842753 | |||||||
| chr2:62843395 | A | G | 1 | a0001c0001t0001g0198 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.634+12237A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62843395 | |||||||
| chr2:62843410 | G | C | 6 | a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG00642.hp1 HG01261.hp1 HG01361.hp1 others(3): Show |
intron_variant | MODIFIER | c.634+12252G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62843410 | |||||||
| chr2:62843711 | C | T | 1 | a0001c0001t0001g0185 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.634+12553C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62843711 | |||||||
| chr2:62843733 | G | A | 2 | a0001c0001t0001g0057 a0001c0001t0001g0183 |
2 | HG02109.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.634+12575G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62843733 | |||||||
| chr2:62844127 | A | G | 1 | a0001c0001t0002g0103 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.634+12969A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62844127 | |||||||
| chr2:62844248 | G | A | 1 | a0001c0001t0001g0132 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.634+13090G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62844248 | |||||||
| chr2:62844312 | A | T | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.634+13154A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62844312 | |||||||
| chr2:62844656 | G | T | 1 | a0001c0001t0001g0132 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.634+13498G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62844656 | |||||||
| chr2:62844935 | A | G | 1 | a0001c0001t0001g0079 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.634+13777A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62844935 | |||||||
| chr2:62845042 | A | G | 1 | a0001c0001t0002g0081 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.634+13884A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62845042 | |||||||
| chr2:62845046 | A | G | 5 | a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0035 others(2): Show |
5 | HG01175.hp1 HG01256.hp2 HG01884.hp1 others(2): Show |
intron_variant | MODIFIER | c.634+13888A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62845046 | |||||||
| chr2:62845073 | A | G | 165 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(162): Show |
165 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(162): Show |
intron_variant | MODIFIER | c.634+13915A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62845073 | |||||||
| chr2:62845268 | C | G | 6 | a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG00642.hp1 HG01261.hp1 HG01361.hp1 others(3): Show |
intron_variant | MODIFIER | c.635-13901C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62845268 | |||||||
| chr2:62845295 | G | C | 13 | a0001c0001t0001g0194 a0002c0002t0001g0004 a0002c0002t0001g0005 others(10): Show |
13 | HG00438.hp1 HG01074.hp2 HG01123.hp1 others(10): Show |
intron_variant | MODIFIER | c.635-13874G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62845295 | |||||||
| chr2:62845371 | G | A | 1 | a0001c0001t0001g0034 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.635-13798G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62845371 | |||||||
| chr2:62845547 | C | G | 1 | a0002c0002t0001g0195 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.635-13622C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62845547 | |||||||
| chr2:62845696 | TA | T | 9 | a0001c0001t0001g0002 a0001c0001t0001g0036 a0001c0001t0001g0127 others(6): Show |
9 | HG00099.hp1 HG00639.hp2 HG01070.hp2 others(6): Show |
intron_variant | MODIFIER | c.635-13457delA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | 62845696 | ||||||
| chr2:62846059 | G | A | 92 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(89): Show |
92 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(89): Show |
intron_variant | MODIFIER | c.635-13110G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62846059 | |||||||
| chr2:62846211 | C | G | 5 | a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0144 others(2): Show |
5 | HG01175.hp2 HG01257.hp1 HG02040.hp2 others(2): Show |
intron_variant | MODIFIER | c.635-12958C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62846211 | |||||||
| chr2:62846979 | A | G | 6 | a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0188 others(3): Show |
6 | HG02717.hp2 HG03130.hp1 HG03540.hp2 others(3): Show |
intron_variant | MODIFIER | c.635-12190A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62846979 | |||||||
| chr2:62847128 | A | T | 4 | a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0067 others(1): Show |
4 | HG02109.hp2 HG02280.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.635-12041A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62847128 | |||||||
| chr2:62847266 | A | G | 2 | a0001c0001t0001g0119 a0001c0001t0001g0120 |
2 | HG02922.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.635-11903A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62847266 | |||||||
| chr2:62847383 | G | C | 1 | a0001c0001t0001g0133 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.635-11786G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62847383 | |||||||
| chr2:62847392 | A | T | 1 | a0001c0001t0002g0103 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.635-11777A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62847392 | |||||||
| chr2:62847690 | A | G | 1 | a0001c0003t0001g0186 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.635-11479A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62847690 | |||||||
| chr2:62847701 | G | T | 1 | a0001c0001t0001g0169 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.635-11468G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62847701 | |||||||
| chr2:62847740 | A | G | 1 | a0001c0001t0001g0058 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.635-11429A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62847740 | |||||||
| chr2:62847851 | A | T | 103 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(100): Show |
103 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(100): Show |
intron_variant | MODIFIER | c.635-11318A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62847851 | |||||||
| chr2:62847898 | C | A | 109 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(106): Show |
109 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(106): Show |
intron_variant | MODIFIER | c.635-11271C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62847898 | |||||||
| chr2:62847989 | C | G | 1 | a0001c0001t0002g0103 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.635-11180C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62847989 | |||||||
| chr2:62848039 | G | A | 1 | a0001c0001t0001g0181 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.635-11130G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62848039 | |||||||
| chr2:62848341 | C | G | 1 | a0001c0001t0002g0176 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.635-10828C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62848341 | |||||||
| chr2:62848463 | C | A | 1 | a0001c0001t0001g0053 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.635-10706C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62848463 | |||||||
| chr2:62848867 | A | G | 1 | a0001c0001t0001g0044 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.635-10302A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62848867 | |||||||
| chr2:62849034 | C | G | 1 | a0001c0001t0001g0173 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.635-10135C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62849034 | |||||||
| chr2:62849077 | T | A | 1 | a0001c0004t0001g0121 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.635-10092T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62849077 | |||||||
| chr2:62849464 | C | A | 5 | a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0035 others(2): Show |
5 | HG01175.hp1 HG01256.hp2 HG01884.hp1 others(2): Show |
intron_variant | MODIFIER | c.635-9705C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62849464 | |||||||
| chr2:62849470 | A | G | 1 | a0001c0001t0001g0161 | 1 | NA18972.hp2 | intron_variant | MODIFIER | c.635-9699A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62849470 | |||||||
| chr2:62850027 | G | A | 1 | a0001c0001t0001g0030 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.635-9142G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62850027 | |||||||
| chr2:62850072 | C | T | 1 | a0001c0001t0001g0074 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.635-9097C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62850072 | |||||||
| chr2:62850148 | G | A | 1 | a0001c0001t0001g0180 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.635-9021G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62850148 | |||||||
| chr2:62850238 | G | A | 1 | a0001c0001t0001g0184 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.635-8931G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62850238 | |||||||
| chr2:62850320 | A | G | 2 | a0001c0001t0001g0057 a0001c0001t0001g0183 |
2 | HG02109.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.635-8849A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62850320 | |||||||
| chr2:62850522 | C | T | 1 | a0001c0001t0001g0198 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.635-8647C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62850522 | |||||||
| chr2:62850611 | A | G | 1 | a0001c0001t0002g0088 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.635-8558A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62850611 | |||||||
| chr2:62850746 | C | T | 1 | a0001c0001t0001g0079 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.635-8423C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62850746 | |||||||
| chr2:62851354 | A | G | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.635-7815A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62851354 | |||||||
| chr2:62851410 | T | C | 1 | a0001c0001t0001g0044 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.635-7759T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62851410 | |||||||
| chr2:62851620 | T | A | 13 | a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0001g0070 others(10): Show |
13 | HG00642.hp1 HG01261.hp1 HG01361.hp1 others(10): Show |
intron_variant | MODIFIER | c.635-7549T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62851620 | |||||||
| chr2:62851662 | T | G | 3 | a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0006t0001g0160 |
3 | HG00738.hp1 HG01346.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.635-7507T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62851662 | |||||||
| chr2:62851813 | A | T | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.635-7356A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62851813 | |||||||
| chr2:62851848 | T | C | 2 | a0001c0001t0001g0024 a0001c0001t0001g0039 |
2 | HG01175.hp1 HG01256.hp2 |
intron_variant | MODIFIER | c.635-7321T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62851848 | |||||||
| chr2:62852233 | T | G | 2 | a0001c0001t0002g0037 a0001c0001t0002g0095 |
2 | HG01981.hp1 NA18989.hp2 |
intron_variant | MODIFIER | c.635-6936T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62852233 | |||||||
| chr2:62852301 | A | G | 1 | a0001c0001t0001g0181 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.635-6868A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62852301 | |||||||
| chr2:62852393 | C | A | 92 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(89): Show |
92 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(89): Show |
intron_variant | MODIFIER | c.635-6776C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62852393 | |||||||
| chr2:62852507 | A | G | 1 | a0001c0001t0002g0091 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.635-6662A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62852507 | |||||||
| chr2:62852640 | T | C | 91 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(88): Show |
91 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(88): Show |
intron_variant | MODIFIER | c.635-6529T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62852640 | |||||||
| chr2:62852693 | A | G | 1 | a0001c0003t0001g0188 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.635-6476A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62852693 | |||||||
| chr2:62852848 | C | T | 91 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(88): Show |
91 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(88): Show |
intron_variant | MODIFIER | c.635-6321C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62852848 | |||||||
| chr2:62852878 | A | G | 1 | a0001c0001t0001g0153 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.635-6291A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62852878 | |||||||
| chr2:62852980 | G | A | 1 | a0001c0001t0001g0194 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.635-6189G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62852980 | |||||||
| chr2:62853149 | G | T | 1 | a0001c0001t0001g0181 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.635-6020G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62853149 | |||||||
| chr2:62853212 | A | G | 1 | a0001c0003t0001g0186 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.635-5957A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62853212 | |||||||
| chr2:62853889 | C | T | 1 | a0001c0001t0002g0176 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.635-5280C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62853889 | |||||||
| chr2:62854361 | A | C | 2 | a0001c0001t0001g0016 a0001c0001t0001g0017 |
2 | HG03195.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.635-4808A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62854361 | |||||||
| chr2:62854449 | A | C | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.635-4720A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62854449 | |||||||
| chr2:62854479 | C | G | 2 | a0001c0001t0001g0134 a0001c0001t0001g0135 |
2 | HG02970.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.635-4690C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62854479 | |||||||
| chr2:62854546 | T | A | 2 | a0001c0001t0001g0043 a0001c0001t0001g0044 |
2 | HG02809.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.635-4623T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62854546 | |||||||
| chr2:62854558 | T | C | 2 | a0001c0001t0001g0138 a0001c0001t0001g0148 |
2 | HG00544.hp1 NA19009.hp2 |
intron_variant | MODIFIER | c.635-4611T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62854558 | |||||||
| chr2:62854624 | T | A | 92 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(89): Show |
92 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(89): Show |
intron_variant | MODIFIER | c.635-4545T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62854624 | |||||||
| chr2:62854832 | C | T | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.635-4337C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62854832 | |||||||
| chr2:62854909 | T | G | 1 | a0001c0001t0001g0161 | 1 | NA18972.hp2 | intron_variant | MODIFIER | c.635-4260T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62854909 | |||||||
| chr2:62855290 | A | G | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.635-3879A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62855290 | |||||||
| chr2:62855330 | A | G | 1 | a0001c0001t0001g0074 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.635-3839A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62855330 | |||||||
| chr2:62855720 | G | T | 1 | a0001c0001t0002g0094 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.635-3449G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62855720 | |||||||
| chr2:62855759 | C | A | 1 | a0001c0001t0001g0077 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.635-3410C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62855759 | |||||||
| chr2:62855986 | C | T | 2 | a0001c0001t0001g0043 a0001c0001t0001g0044 |
2 | HG02809.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.635-3183C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62855986 | |||||||
| chr2:62855996 | GC | G | 2 | a0001c0004t0003g0114 a0001c0004t0003g0115 |
2 | HG02280.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.635-3172delC | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62855996 | |||||||
| chr2:62856371 | A | C | 2 | a0001c0001t0001g0002 a0001c0001t0001g0003 |
2 | HG01256.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.635-2798A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62856371 | |||||||
| chr2:62856501 | C | T | 1 | a0001c0001t0001g0027 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.635-2668C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62856501 | |||||||
| chr2:62856741 | T | G | 3 | a0001c0001t0001g0043 a0001c0001t0001g0044 a0004c0009t0001g0197 |
3 | HG01243.hp2 HG02809.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.635-2428T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62856741 | |||||||
| chr2:62857533 | T | A | 1 | a0001c0004t0001g0121 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.635-1636T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62857533 | |||||||
| chr2:62857547 | G | A | 91 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(88): Show |
91 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(88): Show |
intron_variant | MODIFIER | c.635-1622G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62857547 | |||||||
| chr2:62858189 | T | C | 2 | a0001c0001t0002g0092 a0001c0001t0002g0093 |
2 | HG00544.hp2 NA19012.hp2 |
intron_variant | MODIFIER | c.635-980T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62858189 | |||||||
| chr2:62858713 | T | C | 92 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(89): Show |
92 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(89): Show |
intron_variant | MODIFIER | c.635-456T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62858713 | |||||||
| chr2:62858844 | C | T | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.635-325C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62858844 | |||||||
| chr2:62859076 | T | A | 1 | a0001c0001t0001g0056 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.635-93T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62859076 | |||||||
| chr2:62859150 | C | G | 2 | a0001c0001t0001g0078 a0001c0001t0001g0079 |
2 | HG02258.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.635-19C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62859150 | |||||||
| chr2:62859388 | A | C | 1 | a0002c0002t0001g0071 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.757+97A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | chr2 | 62859388 | |||||||
| chr2:62859504 | C | T | 91 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(88): Show |
91 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(88): Show |
intron_variant | MODIFIER | c.757+213C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | chr2 | 62859504 | |||||||
| chr2:62859998 | C | A | 2 | a0001c0001t0001g0043 a0001c0001t0001g0044 |
2 | HG02809.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.757+707C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | chr2 | 62859998 | |||||||
| chr2:62860243 | G | A | 149 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(146): Show |
149 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(146): Show |
intron_variant | MODIFIER | c.757+952G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | chr2 | 62860243 | |||||||
| chr2:62860265 | G | A | 3 | a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0185 |
3 | HG02818.hp1 HG02886.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.757+974G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | chr2 | 62860265 | |||||||
| chr2:62860466 | G | A | 12 | a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0008 others(9): Show |
12 | HG00438.hp1 HG01123.hp1 HG01361.hp2 others(9): Show |
intron_variant | MODIFIER | c.757+1175G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | chr2 | 62860466 | |||||||
| chr2:62860498 | GA | G | 91 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(88): Show |
91 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(88): Show |
intron_variant | MODIFIER | c.757+1217delA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr2 | 62860498 | ||||||
| chr2:62860643 | T | C | 64 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(61): Show |
64 | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(61): Show |
intron_variant | MODIFIER | c.757+1352T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | chr2 | 62860643 | |||||||
| chr2:62860958 | A | T | 1 | a0001c0001t0001g0028 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.757+1667A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | chr2 | 62860958 | |||||||
| chr2:62861124 | C | CT | 11 | a0001c0001t0001g0029 a0001c0001t0001g0039 a0001c0001t0001g0067 others(8): Show |
11 | HG01175.hp1 HG01243.hp2 HG02145.hp2 others(8): Show |
intron_variant | MODIFIER | c.757+1856dupT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr2 | 62861124 | ||||||
| chr2:62861124 | CT | C | 7 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0035 others(4): Show |
7 | HG01884.hp1 HG02735.hp2 HG03195.hp2 others(4): Show |
intron_variant | MODIFIER | c.757+1856delT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr2 | 62861124 | ||||||
| chr2:62861211 | C | T | 1 | a0001c0001t0001g0162 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.757+1920C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | chr2 | 62861211 | |||||||
| chr2:62861408 | G | A | 1 | a0001c0001t0001g0062 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.757+2117G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | chr2 | 62861408 | |||||||
| chr2:62861408 | G | T | 1 | a0001c0001t0001g0130 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.757+2117G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | chr2 | 62861408 | |||||||
| chr2:62861420 | G | A | 1 | a0001c0001t0001g0167 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.757+2129G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | chr2 | 62861420 | |||||||
| chr2:62861590 | A | G | 1 | a0001c0001t0001g0079 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.757+2299A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | chr2 | 62861590 | |||||||
| chr2:62861721 | G | T | 4 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show |
4 | HG02258.hp2 HG02717.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.757+2430G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | chr2 | 62861721 | |||||||
| chr2:62861976 | T | A | 5 | a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0013 others(2): Show |
5 | HG01123.hp1 HG01361.hp2 HG01496.hp2 others(2): Show |
intron_variant | MODIFIER | c.757+2685T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | chr2 | 62861976 | |||||||
| chr2:62862221 | G | C | 6 | a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG00642.hp1 HG01261.hp1 HG01361.hp1 others(3): Show |
intron_variant | MODIFIER | c.758-2510G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | chr2 | 62862221 | |||||||
| chr2:62862296 | C | T | 1 | a0001c0001t0001g0185 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.758-2435C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | chr2 | 62862296 | |||||||
| chr2:62862299 | G | A | 109 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(106): Show |
109 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(106): Show |
intron_variant | MODIFIER | c.758-2432G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | chr2 | 62862299 | |||||||
| chr2:62862482 | C | T | 1 | a0001c0001t0001g0173 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.758-2249C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | chr2 | 62862482 | |||||||
| chr2:62862499 | C | A | 147 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(144): Show |
147 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(144): Show |
intron_variant | MODIFIER | c.758-2232C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | chr2 | 62862499 | |||||||
| chr2:62862509 | T | C | 95 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(92): Show |
95 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(92): Show |
intron_variant | MODIFIER | c.758-2222T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | chr2 | 62862509 | |||||||
| chr2:62862625 | AT | A | 4 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show |
4 | HG02258.hp2 HG02717.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.758-2105delT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | chr2 | 62862625 | |||||||
| chr2:62862926 | C | A | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.758-1805C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | chr2 | 62862926 | |||||||
| chr2:62862930 | G | A | 147 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(144): Show |
147 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(144): Show |
intron_variant | MODIFIER | c.758-1801G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | chr2 | 62862930 | |||||||
| chr2:62863158 | C | A | 2 | a0001c0001t0001g0062 a0001c0001t0001g0065 |
2 | HG03139.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.758-1573C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | chr2 | 62863158 | |||||||
| chr2:62863281 | T | TCA | 16 | a0001c0001t0001g0108 a0001c0001t0001g0194 a0001c0001t0002g0107 others(13): Show |
16 | HG00438.hp1 HG01074.hp2 HG01123.hp1 others(13): Show |
intron_variant | MODIFIER | c.758-1432_758-1431d others(4): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr2 | 62863281 | ||||||
| chr2:62863431 | A | G | 1 | a0001c0001t0001g0028 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.758-1300A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | chr2 | 62863431 | |||||||
| chr2:62863533 | A | G | 1 | a0001c0001t0001g0175 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.758-1198A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | chr2 | 62863533 | |||||||
| chr2:62863819 | T | A | 66 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(63): Show |
66 | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(63): Show |
intron_variant | MODIFIER | c.758-912T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | chr2 | 62863819 | |||||||
| chr2:62863837 | G | GT | 27 | a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0043 others(24): Show |
27 | HG00099.hp1 HG00639.hp1 HG00738.hp1 others(24): Show |
intron_variant | MODIFIER | c.758-892dupT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr2 | 62863837 | ||||||
| chr2:62863837 | G | GTT | 8 | a0001c0001t0001g0003 a0001c0001t0001g0194 a0001c0003t0001g0189 others(5): Show |
8 | HG00438.hp1 HG01074.hp2 HG01123.hp1 others(5): Show |
intron_variant | MODIFIER | c.758-893_758-892dup others(2): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr2 | 62863837 | ||||||
| chr2:62863837 | G | GTTT | 9 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0069 others(6): Show |
9 | HG01256.hp1 HG01515.hp2 HG02300.hp2 others(6): Show |
intron_variant | MODIFIER | c.758-892_758-891ins others(3): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr2 | 62863837 | ||||||
| chr2:62863837 | G | GTTTT | 6 | a0001c0001t0001g0007 a0001c0001t0001g0072 a0001c0001t0001g0074 others(3): Show |
6 | HG00642.hp1 HG01261.hp1 HG01361.hp1 others(3): Show |
intron_variant | MODIFIER | c.758-892_758-891ins others(4): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr2 | 62863837 | ||||||
| chr2:62863837 | GTTGTTTT others(4): Show |
G | 1 | a0001c0001t0001g0198 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.758-891_758-881del others(11): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr2 | 62863837 | ||||||
| chr2:62863839 | TG | T | 6 | a0001c0001t0001g0057 a0001c0001t0001g0140 a0001c0001t0001g0149 others(3): Show |
6 | HG02109.hp1 HG02602.hp2 HG03453.hp1 others(3): Show |
intron_variant | MODIFIER | c.758-891delG | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | chr2 | 62863839 | |||||||
| chr2:62863840 | G | GT | 43 | a0001c0001t0001g0015 a0001c0001t0001g0045 a0001c0001t0001g0046 others(40): Show |
43 | HG00438.hp2 HG00544.hp2 HG00558.hp1 others(40): Show |
intron_variant | MODIFIER | c.758-866dupT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr2 | 62863840 | ||||||
| chr2:62863840 | G | GTT | 40 | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 others(37): Show |
40 | HG00099.hp2 HG00280.hp2 HG00642.hp2 others(37): Show |
intron_variant | MODIFIER | c.758-867_758-866dup others(2): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr2 | 62863840 | ||||||
| chr2:62863840 | G | T | 89 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(86): Show |
89 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(86): Show |
intron_variant | MODIFIER | c.758-891G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | chr2 | 62863840 | |||||||
| chr2:62864118 | G | A | 1 | a0001c0001t0001g0185 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.758-613G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | chr2 | 62864118 | |||||||
| chr2:62864291 | T | C | 96 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(93): Show |
96 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(93): Show |
intron_variant | MODIFIER | c.758-440T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | chr2 | 62864291 | |||||||
| chr2:62864598 | A | G | 1 | a0001c0001t0002g0092 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.758-133A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | chr2 | 62864598 | |||||||
| chr2:62865074 | A | G | 1 | a0001c0001t0002g0096 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.998+103A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 9/22 | chr2 | 62865074 | |||||||
| chr2:62865098 | G | A | 1 | a0002c0002t0001g0012 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.998+127G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 9/22 | chr2 | 62865098 | |||||||
| chr2:62865310 | G | T | 1 | a0001c0001t0001g0058 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.998+339G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 9/22 | chr2 | 62865310 | |||||||
| chr2:62865357 | G | C | 1 | a0001c0001t0001g0185 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.998+386G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 9/22 | chr2 | 62865357 | |||||||
| chr2:62866101 | G | A | 4 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(1): Show |
4 | HG01884.hp2 HG02818.hp2 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.998+1130G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 9/22 | chr2 | 62866101 | |||||||
| chr2:62866651 | A | G | 1 | a0001c0001t0001g0183 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.998+1680A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 9/22 | chr2 | 62866651 | |||||||
| chr2:62866749 | G | A | 4 | a0001c0004t0001g0118 a0001c0004t0001g0121 a0001c0004t0003g0114 others(1): Show |
4 | HG01167.hp2 HG02280.hp2 HG02809.hp2 others(1): Show |
intron_variant | MODIFIER | c.998+1778G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 9/22 | chr2 | 62866749 | |||||||
| chr2:62867473 | C | A | 1 | a0001c0001t0001g0126 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.998+2502C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 9/22 | chr2 | 62867473 | |||||||
| chr2:62867543 | C | T | 1 | a0001c0001t0001g0150 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.998+2572C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 9/22 | chr2 | 62867543 | |||||||
| chr2:62867708 | G | A | 1 | a0001c0001t0001g0178 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.998+2737G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 9/22 | chr2 | 62867708 | |||||||
| chr2:62868172 | C | T | 1 | a0001c0001t0001g0150 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.998+3201C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 9/22 | chr2 | 62868172 | |||||||
| chr2:62868654 | T | TA | 105 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(102): Show |
105 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(102): Show |
intron_variant | MODIFIER | c.998+3685dupA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 62868654 | ||||||
| chr2:62868657 | G | A | 105 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(102): Show |
105 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(102): Show |
intron_variant | MODIFIER | c.998+3686G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 9/22 | chr2 | 62868657 | |||||||
| chr2:62869011 | A | G | 1 | a0001c0001t0001g0021 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.998+4040A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 9/22 | chr2 | 62869011 | |||||||
| chr2:62869044 | G | A | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.998+4073G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 9/22 | chr2 | 62869044 | |||||||
| chr2:62870083 | G | A | 1 | a0001c0001t0002g0094 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.999-4263G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 9/22 | chr2 | 62870083 | |||||||
| chr2:62870487 | GGTGGATC others(18): Show |
G | 2 | a0001c0004t0001g0118 a0001c0004t0001g0121 |
2 | HG01167.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.999-3857_999-3833d others(27): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 62870487 | ||||||
| chr2:62870715 | C | CA | 5 | a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0050 others(2): Show |
5 | HG00621.hp2 HG01074.hp1 HG03831.hp1 others(2): Show |
intron_variant | MODIFIER | c.999-3611dupA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 62870715 | ||||||
| chr2:62870715 | CA | C | 79 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0016 others(76): Show |
79 | HG00280.hp1 HG00558.hp2 HG00621.hp1 others(76): Show |
intron_variant | MODIFIER | c.999-3611delA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 62870715 | ||||||
| chr2:62870715 | CAA | C | 33 | a0001c0001t0001g0001 a0001c0001t0001g0043 a0001c0001t0001g0044 others(30): Show |
33 | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(30): Show |
intron_variant | MODIFIER | c.999-3612_999-3611d others(4): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 62870715 | ||||||
| chr2:62870715 | CAAA | C | 7 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0061 others(4): Show |
7 | HG01256.hp1 HG01258.hp1 HG02109.hp2 others(4): Show |
intron_variant | MODIFIER | c.999-3613_999-3611d others(5): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | 62870715 | ||||||
| chr2:62870734 | A | ATACATAC others(22): Show |
1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.999-3612_999-3611i others(31): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 9/22 | chr2 | 62870734 | |||||||
| chr2:62870734 | A | T | 4 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show |
4 | HG02258.hp2 HG02717.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.999-3612A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 9/22 | chr2 | 62870734 | |||||||
| chr2:62870736 | T | C | 4 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show |
4 | HG02258.hp2 HG02717.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.999-3610T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 9/22 | chr2 | 62870736 | |||||||
| chr2:62870738 | C | T | 5 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(2): Show |
5 | HG01243.hp2 HG02258.hp2 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.999-3608C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 9/22 | chr2 | 62870738 | |||||||
| chr2:62870913 | A | C | 1 | a0001c0001t0001g0185 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.999-3433A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 9/22 | chr2 | 62870913 | |||||||
| chr2:62870930 | A | G | 4 | a0001c0001t0001g0161 a0001c0001t0001g0165 a0003c0005t0001g0163 others(1): Show |
4 | HG01070.hp2 HG01071.hp1 HG01261.hp2 others(1): Show |
intron_variant | MODIFIER | c.999-3416A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 9/22 | chr2 | 62870930 | |||||||
| chr2:62871080 | CAT | C | 2 | a0001c0001t0001g0078 a0001c0001t0001g0079 |
2 | HG02258.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.999-3265_999-3264d others(4): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 9/22 | chr2 | 62871080 | |||||||
| chr2:62871484 | G | A | 3 | a0001c0001t0001g0141 a0001c0001t0001g0150 a0001c0001t0001g0175 |
3 | HG02165.hp2 NA18747.hp1 NA19057.hp1 |
intron_variant | MODIFIER | c.999-2862G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 9/22 | chr2 | 62871484 | |||||||
| chr2:62871953 | T | G | 2 | a0001c0001t0001g0016 a0001c0001t0001g0017 |
2 | HG03195.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.999-2393T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 9/22 | chr2 | 62871953 | |||||||
| chr2:62872011 | A | G | 2 | a0001c0001t0001g0078 a0001c0001t0001g0079 |
2 | HG02258.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.999-2335A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 9/22 | chr2 | 62872011 | |||||||
| chr2:62872043 | A | T | 1 | a0001c0001t0001g0124 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.999-2303A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 9/22 | chr2 | 62872043 | |||||||
| chr2:62872221 | G | A | 149 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(146): Show |
149 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(146): Show |
intron_variant | MODIFIER | c.999-2125G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 9/22 | chr2 | 62872221 | |||||||
| chr2:62872289 | T | C | 2 | a0001c0001t0001g0138 a0001c0001t0001g0148 |
2 | HG00544.hp1 NA19009.hp2 |
intron_variant | MODIFIER | c.999-2057T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 9/22 | chr2 | 62872289 | |||||||
| chr2:62873397 | A | C | 2 | a0001c0004t0001g0118 a0001c0004t0001g0121 |
2 | HG01167.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.999-949A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 9/22 | chr2 | 62873397 | |||||||
| chr2:62874035 | G | A | 5 | a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0040 others(2): Show |
5 | HG01981.hp2 HG03239.hp1 HG03831.hp1 others(2): Show |
intron_variant | MODIFIER | c.999-311G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 9/22 | chr2 | 62874035 | |||||||
| chr2:62874319 | T | G | 2 | a0001c0001t0002g0094 a0001c0001t0002g0099 |
2 | HG01346.hp2 NA20805.hp2 |
intron_variant | MODIFIER | c.999-27T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 9/22 | chr2 | 62874319 | |||||||
| chr2:62874670 | C | G | 1 | a0001c0001t0002g0088 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.1185+138C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62874670 | |||||||
| chr2:62874877 | G | A | 38 | a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0122 others(35): Show |
38 | HG00544.hp2 HG00558.hp1 HG00639.hp2 others(35): Show |
intron_variant | MODIFIER | c.1185+345G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62874877 | |||||||
| chr2:62875280 | C | T | 1 | a0001c0001t0001g0196 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.1185+748C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62875280 | |||||||
| chr2:62876152 | T | C | 2 | a0002c0002t0001g0005 a0002c0002t0001g0131 |
2 | HG00438.hp1 NA18612.hp2 |
intron_variant | MODIFIER | c.1185+1620T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62876152 | |||||||
| chr2:62876235 | G | A | 2 | a0001c0001t0001g0119 a0001c0001t0001g0120 |
2 | HG02922.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.1185+1703G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62876235 | |||||||
| chr2:62876327 | G | C | 1 | a0001c0001t0001g0138 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.1185+1795G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62876327 | |||||||
| chr2:62876397 | A | G | 2 | a0001c0001t0001g0152 a0001c0001t0001g0153 |
2 | HG02040.hp2 NA19010.hp1 |
intron_variant | MODIFIER | c.1185+1865A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62876397 | |||||||
| chr2:62876412 | T | G | 2 | a0003c0005t0001g0163 a0003c0005t0001g0164 |
2 | HG01070.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.1185+1880T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62876412 | |||||||
| chr2:62876462 | C | A | 37 | a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0122 others(34): Show |
37 | HG00544.hp2 HG00558.hp1 HG00639.hp2 others(34): Show |
intron_variant | MODIFIER | c.1185+1930C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62876462 | |||||||
| chr2:62876890 | T | C | 16 | a0001c0001t0001g0043 a0001c0001t0001g0044 a0002c0002t0001g0004 others(13): Show |
16 | HG00438.hp1 HG01123.hp1 HG01243.hp2 others(13): Show |
intron_variant | MODIFIER | c.1185+2358T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62876890 | |||||||
| chr2:62876987 | C | G | 13 | a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0008 others(10): Show |
13 | HG00438.hp1 HG01123.hp1 HG01361.hp2 others(10): Show |
intron_variant | MODIFIER | c.1185+2455C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62876987 | |||||||
| chr2:62876999 | A | G | 1 | a0001c0001t0001g0167 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.1185+2467A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62876999 | |||||||
| chr2:62877769 | T | C | 92 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(89): Show |
92 | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(89): Show |
intron_variant | MODIFIER | c.1185+3237T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62877769 | |||||||
| chr2:62877967 | A | T | 1 | a0001c0001t0002g0087 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.1185+3435A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62877967 | |||||||
| chr2:62878006 | G | A | 1 | a0001c0001t0001g0126 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.1185+3474G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62878006 | |||||||
| chr2:62878550 | A | G | 1 | a0001c0006t0001g0160 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1185+4018A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62878550 | |||||||
| chr2:62878653 | T | C | 3 | a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0185 |
3 | HG02818.hp1 HG02886.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.1185+4121T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62878653 | |||||||
| chr2:62878853 | A | G | 1 | a0001c0001t0002g0091 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.1185+4321A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62878853 | |||||||
| chr2:62879025 | A | C | 1 | a0001c0001t0001g0127 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.1185+4493A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62879025 | |||||||
| chr2:62879032 | C | A | 2 | a0001c0001t0001g0056 a0001c0001t0001g0169 |
2 | HG03927.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.1185+4500C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62879032 | |||||||
| chr2:62879397 | C | T | 1 | a0001c0001t0002g0143 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.1185+4865C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62879397 | |||||||
| chr2:62879546 | A | AAC | 12 | a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0042 others(9): Show |
12 | HG00438.hp2 HG01074.hp1 HG01175.hp2 others(9): Show |
intron_variant | MODIFIER | c.1185+5058_1185+505 others(6): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62879546 | ||||||
| chr2:62879546 | A | AACAC | 18 | a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 others(15): Show |
18 | HG01123.hp2 HG01167.hp1 HG01257.hp1 others(15): Show |
intron_variant | MODIFIER | c.1185+5056_1185+505 others(8): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62879546 | ||||||
| chr2:62879546 | A | AACACAC | 18 | a0001c0001t0001g0140 a0001c0001t0001g0152 a0001c0001t0001g0177 others(15): Show |
18 | HG00639.hp2 HG00642.hp2 HG01257.hp2 others(15): Show |
intron_variant | MODIFIER | c.1185+5054_1185+505 others(10): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62879546 | ||||||
| chr2:62879546 | A | AACACACA others(1): Show |
17 | a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0122 others(14): Show |
17 | HG00558.hp1 HG01070.hp1 HG01167.hp2 others(14): Show |
intron_variant | MODIFIER | c.1185+5052_1185+505 others(12): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62879546 | ||||||
| chr2:62879546 | A | AACACACA others(3): Show |
6 | a0001c0001t0001g0194 a0001c0001t0002g0083 a0001c0001t0002g0085 others(3): Show |
6 | HG01071.hp2 HG01074.hp2 HG02155.hp2 others(3): Show |
intron_variant | MODIFIER | c.1185+5050_1185+505 others(14): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62879546 | ||||||
| chr2:62879546 | A | AACACACA others(5): Show |
5 | a0001c0001t0002g0092 a0002c0002t0001g0005 a0002c0002t0001g0012 others(2): Show |
5 | HG00438.hp1 HG00544.hp2 HG01123.hp1 others(2): Show |
intron_variant | MODIFIER | c.1185+5048_1185+505 others(16): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62879546 | ||||||
| chr2:62879546 | A | AACACACA others(7): Show |
5 | a0001c0001t0002g0082 a0001c0001t0002g0091 a0001c0004t0003g0115 others(2): Show |
5 | HG01496.hp2 HG02280.hp2 HG03704.hp1 others(2): Show |
intron_variant | MODIFIER | c.1185+5046_1185+505 others(18): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62879546 | ||||||
| chr2:62879546 | A | AACACACA others(9): Show |
1 | a0002c0002t0001g0125 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.1185+5044_1185+505 others(20): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62879546 | ||||||
| chr2:62879546 | A | AACACACA others(11): Show |
1 | a0002c0002t0001g0008 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.1185+5042_1185+505 others(22): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62879546 | ||||||
| chr2:62879546 | AAC | A | 41 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(38): Show |
41 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(38): Show |
intron_variant | MODIFIER | c.1185+5058_1185+505 others(6): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62879546 | ||||||
| chr2:62879546 | AACAC | A | 27 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0024 others(24): Show |
27 | HG00642.hp1 HG01175.hp1 HG01256.hp2 others(24): Show |
intron_variant | MODIFIER | c.1185+5056_1185+505 others(8): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62879546 | ||||||
| chr2:62879546 | AACACAC | A | 10 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0044 others(7): Show |
10 | HG00639.hp1 HG01070.hp2 HG01071.hp1 others(7): Show |
intron_variant | MODIFIER | c.1185+5054_1185+505 others(10): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62879546 | ||||||
| chr2:62879590 | C | CACACACA others(9): Show |
1 | a0002c0002t0001g0011 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.1185+5059_1185+506 others(20): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62879590 | ||||||
| chr2:62879590 | C | G | 4 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show |
4 | HG02258.hp2 HG02717.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.1185+5058C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62879590 | |||||||
| chr2:62879592 | G | C | 1 | a0002c0002t0001g0195 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1185+5060G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62879592 | |||||||
| chr2:62879596 | C | G | 15 | a0001c0001t0001g0194 a0002c0002t0001g0004 a0002c0002t0001g0005 others(12): Show |
15 | HG00438.hp1 HG01074.hp2 HG01123.hp1 others(12): Show |
intron_variant | MODIFIER | c.1185+5064C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62879596 | |||||||
| chr2:62879635 | T | G | 1 | a0001c0001t0001g0006 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.1185+5103T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62879635 | |||||||
| chr2:62879649 | T | C | 107 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(104): Show |
107 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(104): Show |
intron_variant | MODIFIER | c.1185+5117T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62879649 | |||||||
| chr2:62879703 | C | A | 1 | a0001c0001t0001g0173 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.1185+5171C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62879703 | |||||||
| chr2:62879743 | T | C | 4 | a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0001g0070 others(1): Show |
4 | HG01261.hp1 HG01361.hp1 HG01515.hp2 others(1): Show |
intron_variant | MODIFIER | c.1185+5211T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62879743 | |||||||
| chr2:62879889 | A | G | 1 | a0001c0001t0002g0088 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.1185+5357A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62879889 | |||||||
| chr2:62880334 | A | G | 1 | a0001c0001t0001g0129 | 1 | NA18999.hp1 | intron_variant | MODIFIER | c.1185+5802A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62880334 | |||||||
| chr2:62880346 | GA | G | 83 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(80): Show |
83 | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(80): Show |
intron_variant | MODIFIER | c.1185+5828delA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62880346 | ||||||
| chr2:62880563 | G | A | 1 | a0001c0001t0001g0030 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.1185+6031G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62880563 | |||||||
| chr2:62880596 | G | A | 2 | a0001c0001t0001g0062 a0001c0001t0001g0065 |
2 | HG03139.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1185+6064G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62880596 | |||||||
| chr2:62880636 | G | T | 1 | a0001c0001t0001g0182 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.1185+6104G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62880636 | |||||||
| chr2:62880737 | A | G | 1 | a0001c0001t0001g0162 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.1185+6205A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62880737 | |||||||
| chr2:62880809 | T | C | 38 | a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0122 others(35): Show |
38 | HG00544.hp2 HG00558.hp1 HG00639.hp2 others(35): Show |
intron_variant | MODIFIER | c.1185+6277T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62880809 | |||||||
| chr2:62881026 | G | GTA | 13 | a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0001g0070 others(10): Show |
13 | HG00642.hp1 HG01261.hp1 HG01361.hp1 others(10): Show |
intron_variant | MODIFIER | c.1185+6505_1185+650 others(6): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62881026 | ||||||
| chr2:62881028 | A | G | 1 | a0001c0001t0001g0170 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.1185+6496A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62881028 | |||||||
| chr2:62881162 | T | C | 6 | a0001c0001t0001g0123 a0001c0001t0001g0133 a0001c0001t0001g0134 others(3): Show |
6 | HG02145.hp2 HG02559.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.1185+6630T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62881162 | |||||||
| chr2:62881168 | C | T | 6 | a0001c0001t0001g0123 a0001c0001t0001g0133 a0001c0001t0001g0134 others(3): Show |
6 | HG02145.hp2 HG02559.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.1185+6636C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62881168 | |||||||
| chr2:62881172 | T | C | 1 | a0001c0001t0001g0173 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.1185+6640T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62881172 | |||||||
| chr2:62881209 | A | G | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1185+6677A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62881209 | |||||||
| chr2:62881244 | G | T | 2 | a0001c0001t0001g0119 a0001c0001t0001g0120 |
2 | HG02922.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.1185+6712G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62881244 | |||||||
| chr2:62881381 | G | A | 3 | a0001c0001t0002g0091 a0001c0001t0002g0094 a0001c0007t0002g0097 |
3 | HG01070.hp1 HG01346.hp2 HG03704.hp1 |
intron_variant | MODIFIER | c.1185+6849G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62881381 | |||||||
| chr2:62881416 | C | T | 1 | a0001c0001t0002g0086 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.1185+6884C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62881416 | |||||||
| chr2:62881418 | G | GA | 36 | a0001c0001t0001g0026 a0001c0001t0001g0039 a0001c0001t0001g0040 others(33): Show |
36 | HG00099.hp2 HG00438.hp1 HG00544.hp1 others(33): Show |
intron_variant | MODIFIER | c.1185+6907dupA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62881418 | ||||||
| chr2:62881418 | GA | G | 6 | a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0002g0086 others(3): Show |
6 | HG00558.hp1 HG00558.hp2 HG01070.hp1 others(3): Show |
intron_variant | MODIFIER | c.1185+6907delA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62881418 | ||||||
| chr2:62881445 | A | C | 1 | a0002c0002t0001g0004 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1185+6913A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62881445 | |||||||
| chr2:62881590 | C | A | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1185+7058C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62881590 | |||||||
| chr2:62882179 | A | G | 1 | a0001c0001t0001g0183 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1185+7647A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62882179 | |||||||
| chr2:62882301 | G | A | 1 | a0001c0001t0002g0168 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.1185+7769G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62882301 | |||||||
| chr2:62882585 | T | C | 1 | a0002c0002t0001g0004 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1185+8053T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62882585 | |||||||
| chr2:62882620 | C | T | 3 | a0001c0001t0001g0048 a0001c0001t0001g0054 a0001c0001t0001g0055 |
3 | NA18962.hp1 NA18999.hp2 NA19005.hp1 |
intron_variant | MODIFIER | c.1185+8088C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62882620 | |||||||
| chr2:62882670 | G | A | 1 | a0002c0002t0001g0071 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.1185+8138G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62882670 | |||||||
| chr2:62882750 | C | T | 3 | a0001c0001t0001g0138 a0001c0001t0001g0148 a0001c0001t0001g0154 |
3 | HG00544.hp1 NA19009.hp2 NA19065.hp2 |
intron_variant | MODIFIER | c.1185+8218C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62882750 | |||||||
| chr2:62882852 | A | G | 1 | a0001c0001t0001g0181 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1185+8320A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62882852 | |||||||
| chr2:62882882 | CA | C | 195 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(192): Show |
195 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(192): Show |
intron_variant | MODIFIER | c.1185+8364delA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62882882 | ||||||
| chr2:62882962 | A | G | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1185+8430A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62882962 | |||||||
| chr2:62883043 | T | C | 1 | a0001c0001t0001g0063 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1185+8511T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62883043 | |||||||
| chr2:62883730 | G | A | 1 | a0001c0001t0002g0094 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.1185+9198G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62883730 | |||||||
| chr2:62883869 | G | A | 79 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(76): Show |
79 | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(76): Show |
intron_variant | MODIFIER | c.1185+9337G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62883869 | |||||||
| chr2:62883918 | C | A | 1 | a0001c0001t0001g0063 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1185+9386C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62883918 | |||||||
| chr2:62883944 | G | A | 1 | a0001c0003t0001g0191 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1185+9412G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62883944 | |||||||
| chr2:62884047 | A | G | 1 | a0001c0001t0005g0066 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1185+9515A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62884047 | |||||||
| chr2:62884154 | T | C | 16 | a0001c0001t0001g0126 a0001c0001t0001g0194 a0002c0002t0001g0004 others(13): Show |
16 | HG00438.hp1 HG01074.hp2 HG01123.hp1 others(13): Show |
intron_variant | MODIFIER | c.1185+9622T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62884154 | |||||||
| chr2:62884630 | A | G | 1 | a0001c0010t0001g0155 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.1185+10098A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62884630 | |||||||
| chr2:62884735 | T | C | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1185+10203T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62884735 | |||||||
| chr2:62885345 | A | G | 1 | a0001c0001t0001g0198 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.1185+10813A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62885345 | |||||||
| chr2:62885365 | A | G | 120 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(117): Show |
120 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(117): Show |
intron_variant | MODIFIER | c.1185+10833A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62885365 | |||||||
| chr2:62885462 | A | G | 1 | a0001c0001t0002g0091 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.1185+10930A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62885462 | |||||||
| chr2:62886000 | C | A | 1 | a0001c0001t0001g0038 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.1185+11468C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62886000 | |||||||
| chr2:62886012 | G | A | 1 | a0001c0001t0001g0038 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.1185+11480G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62886012 | |||||||
| chr2:62886513 | A | AT | 17 | a0001c0001t0001g0072 a0001c0001t0001g0126 a0001c0001t0001g0194 others(14): Show |
17 | HG00438.hp1 HG00642.hp1 HG01074.hp2 others(14): Show |
intron_variant | MODIFIER | c.1185+11991dupT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62886513 | ||||||
| chr2:62886724 | G | A | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1185+12192G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62886724 | |||||||
| chr2:62886783 | A | G | 1 | a0001c0001t0001g0193 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.1185+12251A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62886783 | |||||||
| chr2:62887070 | C | CTGTGACA others(20): Show |
1 | a0001c0001t0001g0179 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.1185+12539_1185+12 others(33): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62887070 | ||||||
| chr2:62887209 | G | A | 1 | a0001c0001t0002g0085 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.1185+12677G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62887209 | |||||||
| chr2:62887375 | G | A | 4 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show |
4 | HG02258.hp2 HG02717.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.1185+12843G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62887375 | |||||||
| chr2:62887569 | T | G | 1 | a0002c0002t0001g0195 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1185+13037T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62887569 | |||||||
| chr2:62888050 | C | A | 1 | a0001c0001t0001g0074 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1185+13518C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62888050 | |||||||
| chr2:62888299 | A | G | 1 | a0001c0001t0002g0083 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.1185+13767A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62888299 | |||||||
| chr2:62888476 | C | T | 1 | a0001c0001t0001g0044 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1185+13944C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62888476 | |||||||
| chr2:62888760 | T | A | 13 | a0001c0001t0001g0194 a0002c0002t0001g0004 a0002c0002t0001g0005 others(10): Show |
13 | HG00438.hp1 HG01074.hp2 HG01361.hp2 others(10): Show |
intron_variant | MODIFIER | c.1185+14228T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62888760 | |||||||
| chr2:62889047 | C | CTT | 16 | a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 others(13): Show |
16 | HG00099.hp2 HG00280.hp2 HG00738.hp2 others(13): Show |
intron_variant | MODIFIER | c.1185+14548_1185+14 others(8): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62889047 | ||||||
| chr2:62889047 | C | CTTT | 6 | a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0028 others(3): Show |
6 | HG01496.hp1 HG02015.hp1 HG03492.hp1 others(3): Show |
intron_variant | MODIFIER | c.1185+14547_1185+14 others(9): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62889047 | ||||||
| chr2:62889047 | C | CTTTT | 9 | a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0034 others(6): Show |
9 | HG01175.hp1 HG01243.hp2 HG01256.hp2 others(6): Show |
intron_variant | MODIFIER | c.1185+14546_1185+14 others(10): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62889047 | ||||||
| chr2:62889047 | C | CTTTTT | 5 | a0001c0001t0001g0124 a0001c0001t0001g0137 a0001c0001t0001g0178 others(2): Show |
5 | HG00642.hp2 HG01123.hp2 HG01167.hp1 others(2): Show |
intron_variant | MODIFIER | c.1185+14545_1185+14 others(11): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62889047 | ||||||
| chr2:62889047 | CT | C | 43 | a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0050 others(40): Show |
43 | HG00438.hp2 HG00544.hp2 HG00558.hp1 others(40): Show |
intron_variant | MODIFIER | c.1185+14549delT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62889047 | ||||||
| chr2:62889047 | CTT | C | 13 | a0001c0001t0001g0007 a0001c0001t0001g0045 a0001c0001t0001g0047 others(10): Show |
13 | HG01074.hp2 HG01257.hp2 HG01361.hp1 others(10): Show |
intron_variant | MODIFIER | c.1185+14548_1185+14 others(8): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62889047 | ||||||
| chr2:62889047 | CTTT | C | 52 | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(49): Show |
52 | HG00280.hp1 HG00438.hp1 HG00621.hp1 others(49): Show |
intron_variant | MODIFIER | c.1185+14547_1185+14 others(9): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62889047 | ||||||
| chr2:62889047 | CTTTT | C | 31 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(28): Show |
31 | HG00099.hp1 HG00544.hp1 HG00558.hp2 others(28): Show |
intron_variant | MODIFIER | c.1185+14546_1185+14 others(10): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62889047 | ||||||
| chr2:62889047 | CTTTTTTT others(7): Show |
C | 1 | a0001c0001t0001g0015 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.1185+14536_1185+14 others(20): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62889047 | ||||||
| chr2:62889047 | CTTTTTTT others(9): Show |
C | 1 | a0001c0001t0001g0077 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1185+14534_1185+14 others(22): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62889047 | ||||||
| chr2:62889249 | G | GT | 6 | a0001c0001t0001g0015 a0001c0001t0001g0049 a0001c0001t0001g0050 others(3): Show |
6 | HG00438.hp2 HG00621.hp2 HG02165.hp1 others(3): Show |
intron_variant | MODIFIER | c.1185+14727dupT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62889249 | ||||||
| chr2:62889250 | T | G | 1 | a0001c0001t0001g0077 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1185+14718T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62889250 | |||||||
| chr2:62889250 | T | TG | 2 | a0001c0001t0001g0043 a0001c0001t0001g0044 |
2 | HG02809.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.1185+14718_1185+14 others(7): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62889250 | |||||||
| chr2:62889252 | T | G | 1 | a0001c0001t0001g0181 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1185+14720T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62889252 | |||||||
| chr2:62889959 | A | AT | 7 | a0001c0001t0001g0029 a0001c0001t0001g0046 a0001c0001t0001g0050 others(4): Show |
7 | HG00438.hp2 HG00621.hp2 HG01243.hp2 others(4): Show |
intron_variant | MODIFIER | c.1185+15447dupT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62889959 | ||||||
| chr2:62889959 | AT | A | 6 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(3): Show |
6 | HG01070.hp1 HG02135.hp1 HG02165.hp1 others(3): Show |
intron_variant | MODIFIER | c.1185+15447delT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62889959 | ||||||
| chr2:62890147 | G | T | 1 | a0001c0001t0002g0102 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.1185+15615G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62890147 | |||||||
| chr2:62890204 | G | A | 1 | a0001c0001t0002g0090 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.1185+15672G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62890204 | |||||||
| chr2:62890227 | C | T | 1 | a0001c0001t0001g0043 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1185+15695C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62890227 | |||||||
| chr2:62890715 | T | C | 3 | a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0039 |
3 | HG01175.hp1 HG01256.hp2 HG03490.hp1 |
intron_variant | MODIFIER | c.1185+16183T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62890715 | |||||||
| chr2:62890908 | C | T | 2 | a0001c0001t0002g0092 a0001c0001t0002g0093 |
2 | HG00544.hp2 NA19012.hp2 |
intron_variant | MODIFIER | c.1185+16376C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62890908 | |||||||
| chr2:62890931 | G | T | 1 | a0001c0001t0001g0185 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1185+16399G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62890931 | |||||||
| chr2:62891007 | G | A | 3 | a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0185 |
3 | HG02818.hp1 HG02886.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.1185+16475G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62891007 | |||||||
| chr2:62891134 | G | A | 1 | a0001c0001t0001g0074 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1185+16602G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62891134 | |||||||
| chr2:62891158 | CA | C | 10 | a0001c0001t0001g0126 a0001c0001t0001g0139 a0001c0001t0001g0140 others(7): Show |
10 | HG01175.hp2 HG01257.hp1 HG02040.hp2 others(7): Show |
intron_variant | MODIFIER | c.1185+16642delA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62891158 | ||||||
| chr2:62891292 | A | G | 1 | a0001c0001t0001g0196 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.1185+16760A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62891292 | |||||||
| chr2:62892059 | C | T | 1 | a0001c0001t0002g0176 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.1185+17527C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62892059 | |||||||
| chr2:62892228 | C | T | 1 | a0001c0001t0001g0129 | 1 | NA18999.hp1 | intron_variant | MODIFIER | c.1185+17696C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62892228 | |||||||
| chr2:62892626 | G | C | 1 | a0001c0001t0001g0152 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.1185+18094G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62892626 | |||||||
| chr2:62892734 | G | T | 1 | a0001c0001t0001g0077 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1185+18202G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62892734 | |||||||
| chr2:62892832 | T | C | 39 | a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0122 others(36): Show |
39 | HG00544.hp2 HG00558.hp1 HG00639.hp2 others(36): Show |
intron_variant | MODIFIER | c.1185+18300T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62892832 | |||||||
| chr2:62892838 | C | G | 1 | a0001c0001t0001g0119 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.1185+18306C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62892838 | |||||||
| chr2:62893363 | A | G | 1 | a0001c0001t0001g0175 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.1185+18831A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62893363 | |||||||
| chr2:62893371 | A | C | 1 | a0001c0001t0001g0181 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1185+18839A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62893371 | |||||||
| chr2:62894044 | CA | C | 14 | a0001c0001t0001g0060 a0001c0001t0001g0139 a0002c0002t0001g0004 others(11): Show |
14 | HG00438.hp1 HG01123.hp1 HG01257.hp1 others(11): Show |
intron_variant | MODIFIER | c.1185+19528delA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62894044 | ||||||
| chr2:62894250 | A | G | 1 | a0001c0001t0001g0182 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.1185+19718A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62894250 | |||||||
| chr2:62894372 | T | G | 1 | a0001c0001t0002g0109 | 1 | NA18992.hp2 | intron_variant | MODIFIER | c.1185+19840T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62894372 | |||||||
| chr2:62894919 | C | CAGAG | 2 | a0001c0001t0001g0170 a0001c0001t0001g0193 |
2 | HG03491.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.1185+20390_1185+20 others(10): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62894919 | ||||||
| chr2:62894923 | A | AAGAGAGA others(1): Show |
3 | a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0001g0070 |
3 | HG01361.hp1 HG01515.hp2 HG02300.hp2 |
intron_variant | MODIFIER | c.1185+20394_1185+20 others(14): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62894923 | ||||||
| chr2:62894923 | A | AAGAGAGA others(3): Show |
1 | a0001c0001t0001g0073 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.1185+20394_1185+20 others(16): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62894923 | ||||||
| chr2:62894923 | A | AAGAGAGA others(5): Show |
1 | a0001c0001t0001g0075 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.1185+20394_1185+20 others(18): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62894923 | ||||||
| chr2:62894923 | A | AAGAGAGA others(7): Show |
1 | a0001c0001t0001g0072 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.1185+20394_1185+20 others(20): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62894923 | ||||||
| chr2:62894923 | A | G | 3 | a0001c0001t0001g0020 a0001c0001t0001g0170 a0001c0001t0001g0193 |
3 | HG01884.hp2 HG03491.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.1185+20391A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62894923 | |||||||
| chr2:62894927 | A | AAG | 8 | a0001c0001t0001g0025 a0001c0001t0001g0077 a0001c0001t0001g0078 others(5): Show |
8 | HG00544.hp2 HG02258.hp1 HG02258.hp2 others(5): Show |
intron_variant | MODIFIER | c.1185+20423_1185+20 others(8): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62894927 | ||||||
| chr2:62894927 | A | AAGAG | 14 | a0001c0001t0001g0138 a0001c0001t0001g0194 a0002c0002t0001g0004 others(11): Show |
14 | HG00438.hp1 HG00544.hp1 HG01074.hp2 others(11): Show |
intron_variant | MODIFIER | c.1185+20421_1185+20 others(10): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62894927 | ||||||
| chr2:62894927 | A | AAGAGAG | 2 | a0001c0001t0001g0036 a0001c0001t0001g0133 |
2 | HG02559.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.1185+20419_1185+20 others(12): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62894927 | ||||||
| chr2:62894927 | A | AAGAGAGA others(1): Show |
39 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(36): Show |
39 | HG00099.hp1 HG00280.hp1 HG00639.hp1 others(36): Show |
intron_variant | MODIFIER | c.1185+20417_1185+20 others(14): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62894927 | ||||||
| chr2:62894927 | A | AAGAGAGA others(3): Show |
17 | a0001c0001t0001g0006 a0001c0001t0001g0123 a0001c0001t0001g0130 others(14): Show |
17 | HG00558.hp2 HG00621.hp1 HG02071.hp1 others(14): Show |
intron_variant | MODIFIER | c.1185+20415_1185+20 others(16): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62894927 | ||||||
| chr2:62894927 | A | AAGAGAGA others(5): Show |
7 | a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0156 others(4): Show |
7 | HG01123.hp2 HG01167.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.1185+20413_1185+20 others(18): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62894927 | ||||||
| chr2:62894927 | A | AAGAGAGA others(7): Show |
2 | a0001c0001t0001g0074 a0001c0001t0001g0129 |
2 | HG02735.hp2 NA18999.hp1 |
intron_variant | MODIFIER | c.1185+20411_1185+20 others(20): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62894927 | ||||||
| chr2:62894927 | A | AAGAGAGA others(9): Show |
5 | a0001c0003t0001g0186 a0001c0003t0001g0188 a0001c0003t0001g0189 others(2): Show |
5 | HG02717.hp2 HG03130.hp1 HG03540.hp2 others(2): Show |
intron_variant | MODIFIER | c.1185+20409_1185+20 others(22): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62894927 | ||||||
| chr2:62894927 | A | AAGAGAGA others(11): Show |
1 | a0001c0003t0001g0187 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.1185+20407_1185+20 others(24): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62894927 | ||||||
| chr2:62894927 | A | AAGAGAGA others(23): Show |
1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1185+20424_1185+20 others(36): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62894927 | ||||||
| chr2:62894927 | A | AGAGAGAG others(2): Show |
2 | a0001c0001t0001g0043 a0001c0001t0001g0165 |
2 | HG01261.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.1185+20395_1185+20 others(15): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62894927 | |||||||
| chr2:62894927 | A | AGAGAGAG others(4): Show |
1 | a0001c0001t0001g0175 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.1185+20395_1185+20 others(17): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62894927 | |||||||
| chr2:62894927 | A | AGAGAGAG others(6): Show |
1 | a0001c0001t0001g0178 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.1185+20395_1185+20 others(19): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62894927 | |||||||
| chr2:62894927 | A | G | 10 | a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0069 others(7): Show |
10 | HG00642.hp1 HG00738.hp1 HG01261.hp1 others(7): Show |
intron_variant | MODIFIER | c.1185+20395A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62894927 | |||||||
| chr2:62894941 | G | GAGAGAGA others(1): Show |
3 | a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0198 |
3 | HG02622.hp2 HG03453.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.1185+20416_1185+20 others(14): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62894941 | ||||||
| chr2:62895026 | C | T | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1185+20494C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62895026 | |||||||
| chr2:62895186 | A | G | 1 | a0001c0001t0002g0102 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.1185+20654A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62895186 | |||||||
| chr2:62895278 | T | TATC | 49 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(46): Show |
49 | HG00099.hp1 HG00438.hp1 HG00544.hp2 others(46): Show |
intron_variant | MODIFIER | c.1185+20786_1185+20 others(9): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62895278 | ||||||
| chr2:62895278 | T | TATCATC | 8 | a0001c0001t0001g0140 a0001c0001t0002g0084 a0001c0001t0002g0086 others(5): Show |
8 | HG01123.hp1 HG01496.hp2 HG02040.hp1 others(5): Show |
intron_variant | MODIFIER | c.1185+20783_1185+20 others(12): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62895278 | ||||||
| chr2:62895278 | T | TATCATCA others(2): Show |
2 | a0001c0001t0002g0101 a0002c0002t0001g0004 |
2 | HG00558.hp1 HG03831.hp2 |
intron_variant | MODIFIER | c.1185+20780_1185+20 others(15): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62895278 | ||||||
| chr2:62895278 | T | TATCATCA others(8): Show |
1 | a0001c0001t0001g0157 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.1185+20774_1185+20 others(21): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62895278 | ||||||
| chr2:62895278 | TATC | T | 20 | a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0031 others(17): Show |
20 | HG00280.hp2 HG00639.hp2 HG00738.hp2 others(17): Show |
intron_variant | MODIFIER | c.1185+20786_1185+20 others(9): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62895278 | ||||||
| chr2:62895278 | TATCATCA others(8): Show |
T | 2 | a0001c0001t0001g0022 a0001c0001t0001g0023 |
2 | HG03491.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.1185+20774_1185+20 others(21): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62895278 | ||||||
| chr2:62895315 | A | C | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1185+20783A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62895315 | |||||||
| chr2:62895390 | C | T | 1 | a0001c0001t0001g0181 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1185+20858C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62895390 | |||||||
| chr2:62895534 | G | A | 1 | a0001c0001t0001g0079 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1185+21002G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62895534 | |||||||
| chr2:62895684 | G | A | 1 | a0001c0001t0001g0185 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1185+21152G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62895684 | |||||||
| chr2:62895835 | T | G | 11 | a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 others(8): Show |
11 | HG00642.hp2 HG01123.hp2 HG01167.hp1 others(8): Show |
intron_variant | MODIFIER | c.1185+21303T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62895835 | |||||||
| chr2:62895906 | A | G | 1 | a0001c0001t0001g0043 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1185+21374A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62895906 | |||||||
| chr2:62896130 | A | T | 1 | a0001c0001t0002g0110 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.1185+21598A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62896130 | |||||||
| chr2:62896479 | A | G | 129 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(126): Show |
129 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(126): Show |
intron_variant | MODIFIER | c.1185+21947A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62896479 | |||||||
| chr2:62896564 | A | G | 1 | a0001c0001t0001g0130 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.1185+22032A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62896564 | |||||||
| chr2:62896981 | A | G | 1 | a0001c0001t0002g0081 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.1185+22449A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62896981 | |||||||
| chr2:62897006 | A | C | 1 | a0001c0001t0001g0079 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1185+22474A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62897006 | |||||||
| chr2:62897042 | C | T | 1 | a0002c0002t0001g0195 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1185+22510C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62897042 | |||||||
| chr2:62897422 | T | C | 1 | a0001c0001t0001g0165 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.1185+22890T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62897422 | |||||||
| chr2:62897444 | A | G | 1 | a0001c0001t0001g0192 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.1185+22912A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62897444 | |||||||
| chr2:62897528 | T | A | 1 | a0001c0001t0005g0066 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1185+22996T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62897528 | |||||||
| chr2:62897693 | C | G | 2 | a0001c0004t0003g0114 a0001c0004t0003g0115 |
2 | HG02280.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.1185+23161C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62897693 | |||||||
| chr2:62897962 | C | A | 1 | a0001c0001t0002g0080 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.1185+23430C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62897962 | |||||||
| chr2:62898095 | A | G | 1 | a0001c0001t0001g0044 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1185+23563A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62898095 | |||||||
| chr2:62898196 | A | G | 15 | a0001c0001t0001g0194 a0002c0002t0001g0004 a0002c0002t0001g0005 others(12): Show |
15 | HG00438.hp1 HG01074.hp2 HG01123.hp1 others(12): Show |
intron_variant | MODIFIER | c.1185+23664A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62898196 | |||||||
| chr2:62898712 | G | A | 1 | a0001c0001t0001g0192 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.1185+24180G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62898712 | |||||||
| chr2:62898797 | G | A | 2 | a0001c0001t0001g0043 a0001c0001t0001g0044 |
2 | HG02809.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.1185+24265G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62898797 | |||||||
| chr2:62898804 | A | G | 1 | a0001c0001t0002g0168 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.1185+24272A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62898804 | |||||||
| chr2:62898961 | C | T | 1 | a0002c0002t0001g0195 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1185+24429C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62898961 | |||||||
| chr2:62899007 | G | T | 2 | a0001c0001t0001g0139 a0001c0001t0001g0142 |
2 | HG01257.hp1 HG03017.hp2 |
intron_variant | MODIFIER | c.1185+24475G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62899007 | |||||||
| chr2:62899018 | G | T | 1 | a0001c0003t0001g0191 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1185+24486G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62899018 | |||||||
| chr2:62899620 | T | C | 13 | a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0001g0070 others(10): Show |
13 | HG00642.hp1 HG01261.hp1 HG01361.hp1 others(10): Show |
intron_variant | MODIFIER | c.1185+25088T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62899620 | |||||||
| chr2:62899626 | A | G | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1185+25094A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62899626 | |||||||
| chr2:62899813 | T | C | 1 | a0001c0001t0001g0181 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1185+25281T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62899813 | |||||||
| chr2:62900673 | T | G | 4 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show |
4 | HG02258.hp2 HG02717.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.1185+26141T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62900673 | |||||||
| chr2:62900682 | G | GTATA | 2 | a0001c0001t0001g0116 a0001c0001t0001g0117 |
2 | HG02818.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.1185+26151_1185+26 others(10): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62900682 | ||||||
| chr2:62900682 | G | GTATATAT others(15): Show |
1 | a0001c0001t0001g0064 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1185+26151_1185+26 others(28): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62900682 | ||||||
| chr2:62900682 | G | GTATATAT others(17): Show |
3 | a0001c0001t0001g0062 a0001c0001t0001g0063 a0004c0009t0001g0197 |
3 | HG01243.hp2 HG02109.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.1185+26151_1185+26 others(30): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62900682 | ||||||
| chr2:62900682 | G | GTATATAT others(19): Show |
2 | a0001c0001t0001g0065 a0001c0001t0001g0067 |
2 | HG03139.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1185+26151_1185+26 others(32): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62900682 | ||||||
| chr2:62900682 | G | GTATATAT others(21): Show |
1 | a0001c0001t0005g0066 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1185+26151_1185+26 others(34): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62900682 | ||||||
| chr2:62900682 | G | GTATATAT others(23): Show |
2 | a0001c0001t0001g0078 a0001c0008t0001g0076 |
2 | HG02258.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1185+26151_1185+26 others(36): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62900682 | ||||||
| chr2:62900682 | G | GTATATAT others(25): Show |
1 | a0001c0001t0001g0079 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1185+26151_1185+26 others(38): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62900682 | ||||||
| chr2:62900682 | G | GTATATAT others(27): Show |
2 | a0001c0001t0001g0061 a0001c0001t0001g0077 |
2 | HG02280.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.1185+26151_1185+26 others(40): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62900682 | ||||||
| chr2:62900684 | G | A | 14 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(11): Show |
14 | HG01243.hp2 HG02109.hp2 HG02258.hp2 others(11): Show |
intron_variant | MODIFIER | c.1185+26152G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62900684 | |||||||
| chr2:62900684 | G | GTATATAT others(21): Show |
1 | a0001c0001t0001g0185 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1185+26171_1185+26 others(34): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62900684 | ||||||
| chr2:62900686 | A | G | 1 | a0001c0001t0001g0027 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.1185+26154A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62900686 | |||||||
| chr2:62900697 | T | C | 1 | a0001c0001t0002g0176 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.1185+26165T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62900697 | |||||||
| chr2:62901485 | G | A | 1 | a0001c0007t0002g0097 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.1185+26953G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62901485 | |||||||
| chr2:62901661 | TA | T | 35 | a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0122 others(32): Show |
35 | HG00544.hp2 HG00558.hp1 HG00639.hp2 others(32): Show |
intron_variant | MODIFIER | c.1185+27141delA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62901661 | ||||||
| chr2:62902121 | G | A | 2 | a0001c0001t0001g0116 a0001c0001t0001g0117 |
2 | HG02818.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.1185+27589G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62902121 | |||||||
| chr2:62902790 | C | T | 2 | a0001c0001t0001g0002 a0001c0001t0001g0003 |
2 | HG01256.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.1185+28258C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62902790 | |||||||
| chr2:62903316 | G | T | 2 | a0001c0001t0001g0057 a0001c0001t0001g0183 |
2 | HG02109.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1185+28784G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62903316 | |||||||
| chr2:62903468 | A | G | 2 | a0001c0004t0003g0114 a0001c0004t0003g0115 |
2 | HG02280.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.1185+28936A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62903468 | |||||||
| chr2:62903617 | T | G | 1 | a0001c0001t0001g0043 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1185+29085T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62903617 | |||||||
| chr2:62903688 | C | T | 1 | a0001c0001t0001g0169 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.1185+29156C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62903688 | |||||||
| chr2:62903762 | C | T | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1185+29230C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62903762 | |||||||
| chr2:62903785 | GAGGAGA | G | 94 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(91): Show |
94 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(91): Show |
intron_variant | MODIFIER | c.1185+29274_1185+29 others(12): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62903785 | ||||||
| chr2:62904050 | C | CT | 2 | a0001c0001t0001g0062 a0001c0001t0001g0065 |
2 | HG03139.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1185+29520dupT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62904050 | ||||||
| chr2:62904539 | C | A | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1185+30007C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62904539 | |||||||
| chr2:62904596 | G | A | 16 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(13): Show |
16 | HG00099.hp1 HG00639.hp1 HG00738.hp1 others(13): Show |
intron_variant | MODIFIER | c.1185+30064G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62904596 | |||||||
| chr2:62904637 | T | G | 1 | a0001c0001t0001g0184 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1185+30105T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62904637 | |||||||
| chr2:62904716 | C | G | 1 | a0001c0001t0001g0165 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.1185+30184C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62904716 | |||||||
| chr2:62904847 | A | G | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1185+30315A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62904847 | |||||||
| chr2:62905049 | C | A | 1 | a0002c0002t0001g0125 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.1185+30517C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62905049 | |||||||
| chr2:62905207 | G | C | 110 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(107): Show |
110 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(107): Show |
intron_variant | MODIFIER | c.1185+30675G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62905207 | |||||||
| chr2:62905347 | G | A | 34 | a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0122 others(31): Show |
34 | HG00544.hp2 HG00558.hp1 HG00639.hp2 others(31): Show |
intron_variant | MODIFIER | c.1185+30815G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62905347 | |||||||
| chr2:62905683 | G | A | 1 | a0001c0007t0002g0097 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.1185+31151G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62905683 | |||||||
| chr2:62905714 | C | G | 1 | a0001c0001t0002g0176 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.1185+31182C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62905714 | |||||||
| chr2:62905758 | A | T | 1 | a0001c0001t0001g0175 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.1185+31226A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62905758 | |||||||
| chr2:62906008 | T | TA | 16 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(13): Show |
16 | HG00099.hp1 HG00639.hp1 HG00738.hp1 others(13): Show |
intron_variant | MODIFIER | c.1185+31485dupA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62906008 | ||||||
| chr2:62906152 | C | CT | 5 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(2): Show |
5 | HG02258.hp2 HG02717.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1185+31635dupT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62906152 | ||||||
| chr2:62906271 | C | T | 1 | a0001c0001t0005g0066 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1185+31739C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62906271 | |||||||
| chr2:62906449 | G | C | 78 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(75): Show |
78 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(75): Show |
intron_variant | MODIFIER | c.1185+31917G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62906449 | |||||||
| chr2:62907372 | T | A | 110 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(107): Show |
110 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(107): Show |
intron_variant | MODIFIER | c.1185+32840T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62907372 | |||||||
| chr2:62907388 | A | G | 2 | a0001c0004t0003g0114 a0001c0004t0003g0115 |
2 | HG02280.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.1185+32856A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62907388 | |||||||
| chr2:62907562 | C | T | 2 | a0001c0001t0001g0063 a0001c0001t0001g0067 |
2 | HG02109.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.1185+33030C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62907562 | |||||||
| chr2:62907744 | C | A | 16 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(13): Show |
16 | HG00099.hp1 HG00639.hp1 HG00738.hp1 others(13): Show |
intron_variant | MODIFIER | c.1185+33212C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62907744 | |||||||
| chr2:62907948 | A | G | 1 | a0001c0001t0001g0136 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.1185+33416A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62907948 | |||||||
| chr2:62907965 | C | T | 147 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(144): Show |
147 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(144): Show |
intron_variant | MODIFIER | c.1185+33433C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62907965 | |||||||
| chr2:62908279 | A | C | 1 | a0001c0001t0001g0137 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.1185+33747A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62908279 | |||||||
| chr2:62908639 | C | T | 2 | a0001c0001t0001g0171 a0001c0001t0001g0172 |
2 | HG01346.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.1186-34079C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62908639 | |||||||
| chr2:62909049 | A | G | 1 | a0001c0001t0004g0089 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.1186-33669A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62909049 | |||||||
| chr2:62909238 | G | A | 34 | a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0122 others(31): Show |
34 | HG00544.hp2 HG00558.hp1 HG00639.hp2 others(31): Show |
intron_variant | MODIFIER | c.1186-33480G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62909238 | |||||||
| chr2:62909308 | G | A | 4 | a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0067 others(1): Show |
4 | HG02109.hp2 HG02280.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.1186-33410G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62909308 | |||||||
| chr2:62909322 | A | C | 2 | a0001c0004t0001g0118 a0001c0004t0001g0121 |
2 | HG01167.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.1186-33396A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62909322 | |||||||
| chr2:62909324 | A | G | 1 | a0001c0001t0001g0098 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.1186-33394A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62909324 | |||||||
| chr2:62909429 | C | T | 1 | a0001c0001t0001g0159 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1186-33289C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62909429 | |||||||
| chr2:62909432 | C | T | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1186-33286C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62909432 | |||||||
| chr2:62909605 | G | T | 4 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show |
4 | HG02258.hp2 HG02717.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.1186-33113G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62909605 | |||||||
| chr2:62909819 | G | A | 1 | a0001c0001t0001g0064 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1186-32899G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62909819 | |||||||
| chr2:62910152 | C | A | 2 | a0001c0001t0001g0016 a0001c0001t0001g0017 |
2 | HG03195.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.1186-32566C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62910152 | |||||||
| chr2:62910291 | T | C | 1 | a0001c0001t0001g0044 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1186-32427T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62910291 | |||||||
| chr2:62911607 | G | A | 2 | a0001c0001t0001g0169 a0001c0001t0001g0170 |
2 | HG03491.hp1 HG03927.hp1 |
intron_variant | MODIFIER | c.1186-31111G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62911607 | |||||||
| chr2:62911828 | C | T | 109 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(106): Show |
109 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(106): Show |
intron_variant | MODIFIER | c.1186-30890C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62911828 | |||||||
| chr2:62912170 | T | C | 35 | a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0122 others(32): Show |
35 | HG00544.hp2 HG00558.hp1 HG00639.hp2 others(32): Show |
intron_variant | MODIFIER | c.1186-30548T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62912170 | |||||||
| chr2:62912518 | C | T | 1 | a0001c0001t0001g0130 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.1186-30200C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62912518 | |||||||
| chr2:62912537 | G | A | 3 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 |
3 | NA18972.hp1 NA19009.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.1186-30181G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62912537 | |||||||
| chr2:62912709 | G | A | 1 | a0001c0001t0001g0021 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1186-30009G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62912709 | |||||||
| chr2:62913024 | C | T | 1 | a0002c0002t0001g0013 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.1186-29694C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62913024 | |||||||
| chr2:62913351 | G | C | 1 | a0001c0001t0001g0038 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.1186-29367G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62913351 | |||||||
| chr2:62914114 | T | A | 2 | a0001c0001t0001g0119 a0001c0001t0001g0120 |
2 | HG02922.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.1186-28604T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62914114 | |||||||
| chr2:62914385 | G | A | 2 | a0001c0001t0001g0116 a0001c0001t0001g0117 |
2 | HG02818.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.1186-28333G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62914385 | |||||||
| chr2:62914795 | TA | T | 4 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show |
4 | HG02258.hp2 HG02717.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.1186-27920delA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62914795 | ||||||
| chr2:62914955 | G | T | 15 | a0001c0001t0001g0194 a0002c0002t0001g0004 a0002c0002t0001g0005 others(12): Show |
15 | HG00438.hp1 HG01074.hp2 HG01123.hp1 others(12): Show |
intron_variant | MODIFIER | c.1186-27763G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62914955 | |||||||
| chr2:62914992 | C | A | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1186-27726C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62914992 | |||||||
| chr2:62915014 | T | C | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1186-27704T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62915014 | |||||||
| chr2:62915710 | TA | T | 73 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(70): Show |
73 | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(70): Show |
intron_variant | MODIFIER | c.1186-27000delA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62915710 | ||||||
| chr2:62915719 | T | A | 15 | a0001c0001t0001g0194 a0002c0002t0001g0004 a0002c0002t0001g0005 others(12): Show |
15 | HG00438.hp1 HG01074.hp2 HG01123.hp1 others(12): Show |
intron_variant | MODIFIER | c.1186-26999T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62915719 | |||||||
| chr2:62915729 | A | G | 106 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(103): Show |
106 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(103): Show |
intron_variant | MODIFIER | c.1186-26989A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62915729 | |||||||
| chr2:62915792 | G | T | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1186-26926G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62915792 | |||||||
| chr2:62916230 | G | A | 1 | a0001c0001t0001g0196 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.1186-26488G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62916230 | |||||||
| chr2:62916240 | T | C | 1 | a0001c0001t0001g0073 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.1186-26478T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62916240 | |||||||
| chr2:62916799 | A | G | 1 | a0001c0001t0001g0043 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1186-25919A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62916799 | |||||||
| chr2:62917049 | A | G | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1186-25669A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62917049 | |||||||
| chr2:62917068 | C | G | 10 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(7): Show |
10 | HG02109.hp2 HG02280.hp1 HG02559.hp2 others(7): Show |
intron_variant | MODIFIER | c.1186-25650C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62917068 | |||||||
| chr2:62917170 | A | G | 106 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(103): Show |
106 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(103): Show |
intron_variant | MODIFIER | c.1186-25548A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62917170 | |||||||
| chr2:62917441 | C | T | 1 | a0001c0001t0001g0193 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.1186-25277C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62917441 | |||||||
| chr2:62917473 | C | T | 1 | a0001c0004t0003g0115 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1186-25245C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62917473 | |||||||
| chr2:62917560 | T | C | 14 | a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0008 others(11): Show |
14 | HG00438.hp1 HG01123.hp1 HG01243.hp2 others(11): Show |
intron_variant | MODIFIER | c.1186-25158T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62917560 | |||||||
| chr2:62917854 | T | A | 1 | a0001c0001t0001g0136 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.1186-24864T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62917854 | |||||||
| chr2:62917860 | T | C | 1 | a0001c0001t0001g0154 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.1186-24858T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62917860 | |||||||
| chr2:62917894 | G | A | 2 | a0001c0001t0001g0022 a0001c0001t0001g0023 |
2 | HG03491.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.1186-24824G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62917894 | |||||||
| chr2:62918274 | A | G | 15 | a0001c0001t0001g0194 a0002c0002t0001g0004 a0002c0002t0001g0005 others(12): Show |
15 | HG00438.hp1 HG01074.hp2 HG01123.hp1 others(12): Show |
intron_variant | MODIFIER | c.1186-24444A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62918274 | |||||||
| chr2:62919050 | G | A | 1 | a0001c0001t0001g0156 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.1186-23668G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62919050 | |||||||
| chr2:62919174 | C | T | 14 | a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0008 others(11): Show |
14 | HG00438.hp1 HG01123.hp1 HG01243.hp2 others(11): Show |
intron_variant | MODIFIER | c.1186-23544C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62919174 | |||||||
| chr2:62919451 | T | C | 2 | a0001c0004t0001g0118 a0001c0004t0001g0121 |
2 | HG01167.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.1186-23267T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62919451 | |||||||
| chr2:62919778 | A | G | 1 | a0002c0002t0001g0125 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.1186-22940A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62919778 | |||||||
| chr2:62919985 | G | T | 1 | a0001c0001t0001g0173 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.1186-22733G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62919985 | |||||||
| chr2:62919999 | A | G | 7 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(4): Show |
7 | HG02109.hp2 HG02280.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.1186-22719A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62919999 | |||||||
| chr2:62920037 | G | A | 1 | a0001c0001t0001g0026 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.1186-22681G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62920037 | |||||||
| chr2:62920056 | G | A | 1 | a0002c0002t0001g0195 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1186-22662G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62920056 | |||||||
| chr2:62920061 | A | G | 1 | a0001c0001t0001g0194 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.1186-22657A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62920061 | |||||||
| chr2:62920442 | A | T | 1 | a0001c0003t0001g0191 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1186-22276A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62920442 | |||||||
| chr2:62920599 | TAA | T | 3 | a0002c0002t0001g0008 a0002c0002t0001g0011 a0002c0002t0001g0012 |
3 | NA18954.hp1 NA18995.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.1186-22117_1186-22 others(8): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62920599 | ||||||
| chr2:62920662 | AT | A | 10 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(7): Show |
10 | HG02109.hp2 HG02280.hp1 HG02559.hp2 others(7): Show |
intron_variant | MODIFIER | c.1186-22046delT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62920662 | ||||||
| chr2:62920664 | T | A | 2 | a0001c0004t0001g0118 a0001c0004t0001g0121 |
2 | HG01167.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.1186-22054T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62920664 | |||||||
| chr2:62920705 | T | C | 16 | a0001c0001t0001g0194 a0001c0001t0002g0176 a0002c0002t0001g0004 others(13): Show |
16 | HG00438.hp1 HG01074.hp2 HG01123.hp1 others(13): Show |
intron_variant | MODIFIER | c.1186-22013T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62920705 | |||||||
| chr2:62920797 | C | T | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1186-21921C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62920797 | |||||||
| chr2:62920946 | G | A | 5 | a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0188 others(2): Show |
5 | HG02717.hp2 HG03130.hp1 NA18906.hp1 others(2): Show |
intron_variant | MODIFIER | c.1186-21772G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62920946 | |||||||
| chr2:62921151 | A | G | 1 | a0001c0001t0001g0183 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1186-21567A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62921151 | |||||||
| chr2:62921296 | A | G | 6 | a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 others(3): Show |
6 | HG01070.hp2 HG01071.hp1 HG01261.hp2 others(3): Show |
intron_variant | MODIFIER | c.1186-21422A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62921296 | |||||||
| chr2:62921464 | G | T | 1 | a0001c0001t0001g0116 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1186-21254G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62921464 | |||||||
| chr2:62921471 | C | T | 1 | a0001c0001t0001g0162 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.1186-21247C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62921471 | |||||||
| chr2:62921548 | GA | G | 4 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show |
4 | HG02258.hp2 HG02717.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.1186-21160delA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62921548 | ||||||
| chr2:62921563 | CACAA | C | 3 | a0001c0001t0001g0048 a0001c0001t0001g0054 a0001c0001t0001g0055 |
3 | NA18962.hp1 NA18999.hp2 NA19005.hp1 |
intron_variant | MODIFIER | c.1186-21153_1186-21 others(10): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62921563 | ||||||
| chr2:62921899 | A | G | 2 | a0002c0002t0001g0009 a0002c0002t0001g0010 |
2 | HG03490.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.1186-20819A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62921899 | |||||||
| chr2:62922123 | G | A | 1 | a0001c0001t0001g0150 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.1186-20595G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62922123 | |||||||
| chr2:62922130 | G | A | 77 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(74): Show |
77 | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(74): Show |
intron_variant | MODIFIER | c.1186-20588G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62922130 | |||||||
| chr2:62922309 | G | A | 1 | a0001c0001t0001g0040 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.1186-20409G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62922309 | |||||||
| chr2:62922422 | G | A | 120 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(117): Show |
120 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(117): Show |
intron_variant | MODIFIER | c.1186-20296G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62922422 | |||||||
| chr2:62922443 | A | G | 1 | a0001c0001t0001g0034 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.1186-20275A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62922443 | |||||||
| chr2:62922647 | A | G | 10 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(7): Show |
10 | HG02109.hp2 HG02280.hp1 HG02559.hp2 others(7): Show |
intron_variant | MODIFIER | c.1186-20071A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62922647 | |||||||
| chr2:62922660 | A | G | 2 | a0001c0001t0001g0139 a0001c0001t0001g0142 |
2 | HG01257.hp1 HG03017.hp2 |
intron_variant | MODIFIER | c.1186-20058A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62922660 | |||||||
| chr2:62922848 | G | C | 1 | a0001c0001t0001g0056 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.1186-19870G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62922848 | |||||||
| chr2:62922998 | G | C | 1 | a0001c0001t0001g0149 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.1186-19720G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62922998 | |||||||
| chr2:62923032 | C | T | 6 | a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 others(3): Show |
6 | HG01070.hp2 HG01071.hp1 HG01261.hp2 others(3): Show |
intron_variant | MODIFIER | c.1186-19686C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62923032 | |||||||
| chr2:62923199 | T | C | 1 | a0001c0001t0001g0126 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.1186-19519T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62923199 | |||||||
| chr2:62923225 | A | G | 7 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(4): Show |
7 | HG02109.hp2 HG02280.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.1186-19493A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62923225 | |||||||
| chr2:62923476 | C | T | 2 | a0001c0001t0001g0122 a0001c0001t0002g0080 |
2 | NA18984.hp1 NA19077.hp1 |
intron_variant | MODIFIER | c.1186-19242C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62923476 | |||||||
| chr2:62923882 | A | G | 1 | a0001c0001t0001g0181 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1186-18836A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62923882 | |||||||
| chr2:62923932 | A | G | 11 | a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 others(8): Show |
11 | HG02109.hp2 HG02280.hp1 HG02559.hp2 others(8): Show |
intron_variant | MODIFIER | c.1186-18786A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62923932 | |||||||
| chr2:62924004 | A | G | 1 | a0001c0001t0001g0137 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.1186-18714A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62924004 | |||||||
| chr2:62924038 | A | G | 13 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(10): Show |
13 | HG02109.hp2 HG02280.hp1 HG02559.hp2 others(10): Show |
intron_variant | MODIFIER | c.1186-18680A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62924038 | |||||||
| chr2:62924122 | A | G | 2 | a0001c0001t0001g0119 a0001c0001t0001g0120 |
2 | HG02922.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.1186-18596A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62924122 | |||||||
| chr2:62924210 | C | G | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1186-18508C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62924210 | |||||||
| chr2:62924366 | A | G | 1 | a0001c0001t0001g0185 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1186-18352A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62924366 | |||||||
| chr2:62924749 | C | T | 6 | a0001c0001t0001g0123 a0001c0001t0001g0133 a0001c0001t0001g0134 others(3): Show |
6 | HG02145.hp2 HG02559.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.1186-17969C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62924749 | |||||||
| chr2:62925976 | C | T | 1 | a0001c0001t0001g0175 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.1186-16742C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62925976 | |||||||
| chr2:62926120 | T | G | 10 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(7): Show |
10 | HG02109.hp2 HG02280.hp1 HG02559.hp2 others(7): Show |
intron_variant | MODIFIER | c.1186-16598T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62926120 | |||||||
| chr2:62926686 | A | C | 1 | a0001c0001t0001g0171 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.1186-16032A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62926686 | |||||||
| chr2:62926708 | G | T | 1 | a0001c0001t0001g0074 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1186-16010G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62926708 | |||||||
| chr2:62926778 | A | G | 1 | a0001c0001t0002g0086 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.1186-15940A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62926778 | |||||||
| chr2:62927077 | T | A | 15 | a0001c0001t0001g0194 a0002c0002t0001g0004 a0002c0002t0001g0005 others(12): Show |
15 | HG00438.hp1 HG01074.hp2 HG01123.hp1 others(12): Show |
intron_variant | MODIFIER | c.1186-15641T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62927077 | |||||||
| chr2:62927122 | A | G | 1 | a0001c0001t0001g0144 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.1186-15596A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62927122 | |||||||
| chr2:62927598 | G | A | 4 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show |
4 | HG02258.hp2 HG02717.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.1186-15120G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62927598 | |||||||
| chr2:62927681 | A | G | 35 | a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0122 others(32): Show |
35 | HG00544.hp2 HG00558.hp1 HG00639.hp2 others(32): Show |
intron_variant | MODIFIER | c.1186-15037A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62927681 | |||||||
| chr2:62928281 | C | G | 14 | a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0008 others(11): Show |
14 | HG00438.hp1 HG01123.hp1 HG01243.hp2 others(11): Show |
intron_variant | MODIFIER | c.1186-14437C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62928281 | |||||||
| chr2:62928308 | C | T | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1186-14410C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62928308 | |||||||
| chr2:62928840 | C | CA | 14 | a0001c0001t0001g0034 a0001c0001t0001g0061 a0001c0001t0001g0062 others(11): Show |
14 | HG02109.hp2 HG02280.hp1 HG02559.hp2 others(11): Show |
intron_variant | MODIFIER | c.1186-13862dupA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62928840 | ||||||
| chr2:62928840 | CA | C | 5 | a0001c0001t0001g0074 a0001c0001t0001g0126 a0001c0003t0001g0188 others(2): Show |
5 | HG01167.hp2 HG02735.hp1 HG02735.hp2 others(2): Show |
intron_variant | MODIFIER | c.1186-13862delA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62928840 | ||||||
| chr2:62929088 | A | C | 1 | a0001c0001t0001g0132 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1186-13630A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62929088 | |||||||
| chr2:62929284 | A | G | 1 | a0001c0008t0001g0076 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1186-13434A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62929284 | |||||||
| chr2:62929300 | T | A | 13 | a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0008 others(10): Show |
13 | HG00438.hp1 HG01123.hp1 HG01361.hp2 others(10): Show |
intron_variant | MODIFIER | c.1186-13418T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62929300 | |||||||
| chr2:62929510 | T | C | 1 | a0001c0001t0001g0166 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.1186-13208T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62929510 | |||||||
| chr2:62929534 | T | G | 14 | a0001c0001t0001g0194 a0002c0002t0001g0004 a0002c0002t0001g0005 others(11): Show |
14 | HG00438.hp1 HG01074.hp2 HG01123.hp1 others(11): Show |
intron_variant | MODIFIER | c.1186-13184T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62929534 | |||||||
| chr2:62929697 | T | G | 39 | a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0122 others(36): Show |
39 | HG00544.hp2 HG00558.hp1 HG00639.hp2 others(36): Show |
intron_variant | MODIFIER | c.1186-13021T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62929697 | |||||||
| chr2:62929763 | G | A | 7 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 others(4): Show |
7 | NA18952.hp1 NA18962.hp1 NA18972.hp1 others(4): Show |
intron_variant | MODIFIER | c.1186-12955G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62929763 | |||||||
| chr2:62929866 | C | T | 1 | a0001c0001t0001g0144 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.1186-12852C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62929866 | |||||||
| chr2:62929878 | C | G | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1186-12840C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62929878 | |||||||
| chr2:62930072 | C | G | 3 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | HG01256.hp1 HG01258.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.1186-12646C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62930072 | |||||||
| chr2:62930599 | A | G | 1 | a0001c0001t0001g0006 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.1186-12119A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62930599 | |||||||
| chr2:62930632 | C | T | 10 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(7): Show |
10 | HG02109.hp2 HG02280.hp1 HG02559.hp2 others(7): Show |
intron_variant | MODIFIER | c.1186-12086C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62930632 | |||||||
| chr2:62930795 | C | T | 1 | a0001c0001t0001g0150 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.1186-11923C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62930795 | |||||||
| chr2:62930964 | G | C | 15 | a0001c0001t0001g0194 a0002c0002t0001g0004 a0002c0002t0001g0005 others(12): Show |
15 | HG00438.hp1 HG01074.hp2 HG01123.hp1 others(12): Show |
intron_variant | MODIFIER | c.1186-11754G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62930964 | |||||||
| chr2:62931648 | T | C | 1 | a0001c0001t0001g0185 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1186-11070T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62931648 | |||||||
| chr2:62931712 | G | A | 1 | a0001c0001t0001g0132 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1186-11006G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62931712 | |||||||
| chr2:62931916 | C | T | 1 | a0001c0001t0001g0030 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.1186-10802C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62931916 | |||||||
| chr2:62933015 | A | C | 2 | a0001c0001t0001g0146 a0001c0001t0001g0147 |
2 | HG00558.hp2 HG02071.hp1 |
intron_variant | MODIFIER | c.1186-9703A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62933015 | |||||||
| chr2:62933090 | T | G | 1 | a0001c0001t0001g0178 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.1186-9628T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62933090 | |||||||
| chr2:62933646 | C | T | 1 | a0001c0001t0002g0081 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.1186-9072C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62933646 | |||||||
| chr2:62933790 | G | A | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1186-8928G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62933790 | |||||||
| chr2:62933848 | C | G | 1 | a0002c0002t0001g0013 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.1186-8870C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62933848 | |||||||
| chr2:62933921 | G | A | 1 | a0001c0001t0001g0035 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1186-8797G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62933921 | |||||||
| chr2:62934060 | G | A | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1186-8658G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62934060 | |||||||
| chr2:62934358 | T | G | 1 | a0001c0001t0002g0112 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1186-8360T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62934358 | |||||||
| chr2:62934618 | G | A | 2 | a0001c0004t0001g0118 a0001c0004t0001g0121 |
2 | HG01167.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.1186-8100G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62934618 | |||||||
| chr2:62934945 | G | C | 4 | a0002c0002t0001g0008 a0002c0002t0001g0011 a0002c0002t0001g0012 others(1): Show |
4 | HG02602.hp1 NA18954.hp1 NA18995.hp1 others(1): Show |
intron_variant | MODIFIER | c.1186-7773G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62934945 | |||||||
| chr2:62935328 | CA | C | 7 | a0001c0001t0001g0044 a0001c0001t0001g0058 a0001c0001t0001g0128 others(4): Show |
7 | HG02280.hp2 HG03471.hp1 NA18955.hp2 others(4): Show |
intron_variant | MODIFIER | c.1186-7373delA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62935328 | ||||||
| chr2:62935328 | CAA | C | 9 | a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 others(6): Show |
9 | HG01496.hp2 HG02109.hp2 HG02602.hp1 others(6): Show |
intron_variant | MODIFIER | c.1186-7374_1186-737 others(6): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62935328 | ||||||
| chr2:62935328 | CAAA | C | 33 | a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0122 others(30): Show |
33 | HG00544.hp2 HG00558.hp1 HG00639.hp2 others(30): Show |
intron_variant | MODIFIER | c.1186-7375_1186-737 others(7): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62935328 | ||||||
| chr2:62935344 | A | AAT | 6 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0130 others(3): Show |
6 | HG02145.hp2 HG02622.hp1 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.1186-7353_1186-735 others(6): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62935344 | ||||||
| chr2:62935344 | A | AATAT | 12 | a0001c0001t0001g0042 a0001c0001t0001g0075 a0001c0001t0001g0161 others(9): Show |
12 | HG00099.hp1 HG00639.hp1 HG00738.hp1 others(9): Show |
intron_variant | MODIFIER | c.1186-7355_1186-735 others(8): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62935344 | ||||||
| chr2:62935344 | A | AT | 5 | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0072 others(2): Show |
5 | HG00642.hp1 HG03471.hp2 HG03491.hp2 others(2): Show |
intron_variant | MODIFIER | c.1186-7374_1186-737 others(5): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62935344 | |||||||
| chr2:62935344 | A | T | 45 | a0001c0001t0001g0006 a0001c0001t0001g0026 a0001c0001t0001g0039 others(42): Show |
45 | HG00099.hp2 HG00544.hp2 HG00639.hp2 others(42): Show |
intron_variant | MODIFIER | c.1186-7374A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62935344 | |||||||
| chr2:62935344 | AAT | A | 18 | a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0061 others(15): Show |
18 | HG00438.hp1 HG01123.hp1 HG01361.hp2 others(15): Show |
intron_variant | MODIFIER | c.1186-7353_1186-735 others(6): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62935344 | ||||||
| chr2:62935346 | T | A | 10 | a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0001g0070 others(7): Show |
10 | HG00280.hp1 HG01175.hp2 HG01361.hp1 others(7): Show |
intron_variant | MODIFIER | c.1186-7372T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62935346 | |||||||
| chr2:62935348 | T | A | 2 | a0001c0001t0001g0035 a0001c0001t0001g0036 |
2 | HG01884.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.1186-7370T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62935348 | |||||||
| chr2:62936129 | G | A | 2 | a0003c0005t0001g0163 a0003c0005t0001g0164 |
2 | HG01070.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.1186-6589G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62936129 | |||||||
| chr2:62936395 | C | A | 4 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show |
4 | HG02258.hp2 HG02717.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.1186-6323C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62936395 | |||||||
| chr2:62936410 | A | G | 1 | a0001c0001t0001g0174 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.1186-6308A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62936410 | |||||||
| chr2:62936565 | A | G | 1 | a0001c0001t0001g0078 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1186-6153A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62936565 | |||||||
| chr2:62936671 | G | T | 1 | a0001c0001t0001g0064 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1186-6047G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62936671 | |||||||
| chr2:62936680 | TA | T | 4 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show |
4 | HG02258.hp2 HG02717.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.1186-6028delA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62936680 | ||||||
| chr2:62937304 | C | G | 1 | a0001c0001t0004g0089 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.1186-5414C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62937304 | |||||||
| chr2:62937659 | C | T | 1 | a0001c0001t0001g0077 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1186-5059C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62937659 | |||||||
| chr2:62937839 | A | G | 1 | a0001c0001t0001g0070 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.1186-4879A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62937839 | |||||||
| chr2:62938019 | A | G | 1 | a0001c0001t0001g0117 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.1186-4699A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62938019 | |||||||
| chr2:62938147 | A | G | 2 | a0001c0004t0003g0114 a0001c0004t0003g0115 |
2 | HG02280.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.1186-4571A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62938147 | |||||||
| chr2:62938371 | C | T | 2 | a0001c0001t0001g0116 a0001c0001t0001g0117 |
2 | HG02818.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.1186-4347C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62938371 | |||||||
| chr2:62938806 | GA | G | 19 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(16): Show |
19 | HG00099.hp1 HG00639.hp1 HG00738.hp1 others(16): Show |
intron_variant | MODIFIER | c.1186-3902delA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62938806 | ||||||
| chr2:62938807 | A | G | 1 | a0001c0001t0001g0132 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1186-3911A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62938807 | |||||||
| chr2:62938895 | A | C | 2 | a0001c0001t0001g0116 a0001c0001t0001g0117 |
2 | HG02818.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.1186-3823A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62938895 | |||||||
| chr2:62939063 | G | A | 4 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(1): Show |
4 | HG01884.hp2 HG02818.hp2 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.1186-3655G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62939063 | |||||||
| chr2:62939244 | G | A | 78 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(75): Show |
78 | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(75): Show |
intron_variant | MODIFIER | c.1186-3474G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62939244 | |||||||
| chr2:62939465 | G | T | 2 | a0001c0001t0002g0086 a0001c0001t0002g0101 |
2 | HG00558.hp1 HG02040.hp1 |
intron_variant | MODIFIER | c.1186-3253G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62939465 | |||||||
| chr2:62939645 | TATCTGAG others(22): Show |
T | 2 | a0001c0001t0001g0130 a0001c0001t0001g0140 |
2 | HG03239.hp2 NA18998.hp2 |
intron_variant | MODIFIER | c.1186-2990_1186-296 others(33): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62939645 | ||||||
| chr2:62939916 | A | G | 14 | a0001c0001t0001g0194 a0002c0002t0001g0004 a0002c0002t0001g0005 others(11): Show |
14 | HG00438.hp1 HG01074.hp2 HG01123.hp1 others(11): Show |
intron_variant | MODIFIER | c.1186-2802A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62939916 | |||||||
| chr2:62939977 | G | A | 1 | a0001c0001t0001g0136 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.1186-2741G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62939977 | |||||||
| chr2:62940041 | G | C | 1 | a0001c0001t0001g0048 | 1 | NA18999.hp2 | intron_variant | MODIFIER | c.1186-2677G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62940041 | |||||||
| chr2:62940128 | A | G | 1 | a0001c0001t0001g0077 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1186-2590A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62940128 | |||||||
| chr2:62940443 | A | G | 15 | a0001c0001t0001g0194 a0001c0001t0002g0176 a0002c0002t0001g0004 others(12): Show |
15 | HG00438.hp1 HG01074.hp2 HG01123.hp1 others(12): Show |
intron_variant | MODIFIER | c.1186-2275A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62940443 | |||||||
| chr2:62940452 | G | A | 2 | a0001c0001t0001g0119 a0001c0001t0001g0120 |
2 | HG02922.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.1186-2266G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62940452 | |||||||
| chr2:62940455 | A | G | 1 | a0001c0001t0001g0020 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1186-2263A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62940455 | |||||||
| chr2:62940541 | CAACA | C | 3 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 |
3 | NA18972.hp1 NA19009.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.1186-2172_1186-216 others(8): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62940541 | ||||||
| chr2:62940901 | G | C | 7 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 others(4): Show |
7 | NA18952.hp1 NA18962.hp1 NA18972.hp1 others(4): Show |
intron_variant | MODIFIER | c.1186-1817G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62940901 | |||||||
| chr2:62940916 | T | C | 1 | a0002c0002t0001g0012 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.1186-1802T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62940916 | |||||||
| chr2:62941497 | CTG | C | 3 | a0001c0004t0003g0114 a0001c0004t0003g0115 a0004c0009t0001g0197 |
3 | HG01243.hp2 HG02280.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.1186-1219_1186-121 others(6): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | 62941497 | ||||||
| chr2:62941729 | T | A | 1 | a0001c0010t0001g0155 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.1186-989T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62941729 | |||||||
| chr2:62941776 | G | C | 1 | a0002c0002t0001g0195 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1186-942G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62941776 | |||||||
| chr2:62941796 | G | A | 2 | a0001c0001t0001g0181 a0001c0001t0001g0184 |
2 | HG03453.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.1186-922G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62941796 | |||||||
| chr2:62942031 | C | T | 5 | a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0013 others(2): Show |
5 | HG01123.hp1 HG01361.hp2 HG01496.hp2 others(2): Show |
intron_variant | MODIFIER | c.1186-687C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62942031 | |||||||
| chr2:62942482 | T | C | 1 | a0001c0001t0001g0126 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.1186-236T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62942482 | |||||||
| chr2:62943034 | A | G | 1 | a0001c0001t0001g0006 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.1364+138A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 11/22 | chr2 | 62943034 | |||||||
| chr2:62943050 | C | T | 80 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(77): Show |
80 | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(77): Show |
intron_variant | MODIFIER | c.1364+154C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 11/22 | chr2 | 62943050 | |||||||
| chr2:62943364 | G | A | 1 | a0001c0003t0001g0191 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1365-438G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 11/22 | chr2 | 62943364 | |||||||
| chr2:62943376 | C | CA | 17 | a0001c0001t0001g0007 a0001c0001t0001g0032 a0001c0001t0001g0034 others(14): Show |
17 | HG00280.hp2 HG00438.hp2 HG00642.hp1 others(14): Show |
intron_variant | MODIFIER | c.1365-402dupA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr2 | 62943376 | ||||||
| chr2:62943376 | C | CAAAA | 9 | a0001c0001t0001g0194 a0002c0002t0001g0004 a0002c0002t0001g0005 others(6): Show |
9 | HG00438.hp1 HG01074.hp2 HG01123.hp1 others(6): Show |
intron_variant | MODIFIER | c.1365-405_1365-402d others(6): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr2 | 62943376 | ||||||
| chr2:62943376 | CA | C | 92 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(89): Show |
92 | HG00280.hp1 HG00544.hp1 HG00544.hp2 others(89): Show |
intron_variant | MODIFIER | c.1365-402delA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr2 | 62943376 | ||||||
| chr2:62943376 | CAA | C | 20 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(17): Show |
20 | HG00639.hp1 HG00738.hp1 HG01070.hp2 others(17): Show |
intron_variant | MODIFIER | c.1365-403_1365-402d others(4): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr2 | 62943376 | ||||||
| chr2:62943458 | G | A | 1 | a0001c0001t0001g0177 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.1365-344G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 11/22 | chr2 | 62943458 | |||||||
| chr2:62943641 | C | A | 13 | a0001c0001t0001g0074 a0001c0001t0001g0123 a0001c0001t0001g0133 others(10): Show |
13 | HG02145.hp2 HG02559.hp1 HG02622.hp1 others(10): Show |
intron_variant | MODIFIER | c.1365-161C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 11/22 | chr2 | 62943641 | |||||||
| chr2:62943770 | A | G | 16 | a0001c0001t0001g0194 a0001c0001t0002g0176 a0002c0002t0001g0004 others(13): Show |
16 | HG00438.hp1 HG01074.hp2 HG01123.hp1 others(13): Show |
intron_variant | MODIFIER | c.1365-32A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 11/22 | chr2 | 62943770 | |||||||
| chr2:62943786 | C | G | 34 | a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0122 others(31): Show |
34 | HG00544.hp2 HG00558.hp1 HG00639.hp2 others(31): Show |
intron_variant | MODIFIER | c.1365-16C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 11/22 | chr2 | 62943786 | |||||||
| chr2:62943877 | C | T | 1 | a0001c0001t0001g0149 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.1413+27C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 12/22 | chr2 | 62943877 | |||||||
| chr2:62944379 | C | G | 2 | a0001c0001t0002g0086 a0001c0001t0002g0101 |
2 | HG00558.hp1 HG02040.hp1 |
intron_variant | MODIFIER | c.1413+529C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 12/22 | chr2 | 62944379 | |||||||
| chr2:62944890 | T | A | 1 | a0001c0001t0001g0063 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1413+1040T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 12/22 | chr2 | 62944890 | |||||||
| chr2:62944911 | T | A | 1 | a0001c0001t0001g0174 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.1413+1061T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 12/22 | chr2 | 62944911 | |||||||
| chr2:62945137 | T | A | 2 | a0001c0001t0001g0016 a0001c0001t0001g0017 |
2 | HG03195.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.1413+1287T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 12/22 | chr2 | 62945137 | |||||||
| chr2:62945385 | A | G | 1 | a0001c0001t0002g0081 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.1413+1535A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 12/22 | chr2 | 62945385 | |||||||
| chr2:62945610 | C | G | 2 | a0001c0004t0003g0114 a0001c0004t0003g0115 |
2 | HG02280.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.1413+1760C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 12/22 | chr2 | 62945610 | |||||||
| chr2:62945900 | T | C | 1 | a0001c0001t0001g0126 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.1413+2050T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 12/22 | chr2 | 62945900 | |||||||
| chr2:62945915 | C | T | 1 | a0001c0001t0001g0048 | 1 | NA18999.hp2 | intron_variant | MODIFIER | c.1413+2065C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 12/22 | chr2 | 62945915 | |||||||
| chr2:62945995 | CT | C | 78 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(75): Show |
78 | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(75): Show |
intron_variant | MODIFIER | c.1413+2150delT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr2 | 62945995 | ||||||
| chr2:62946082 | A | C | 2 | a0001c0001t0001g0119 a0001c0001t0001g0120 |
2 | HG02922.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.1414-2178A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 12/22 | chr2 | 62946082 | |||||||
| chr2:62946315 | G | A | 98 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(95): Show |
98 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(95): Show |
intron_variant | MODIFIER | c.1414-1945G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 12/22 | chr2 | 62946315 | |||||||
| chr2:62946396 | A | G | 1 | a0001c0001t0002g0087 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.1414-1864A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 12/22 | chr2 | 62946396 | |||||||
| chr2:62946813 | TG | T | 2 | a0001c0001t0001g0043 a0001c0001t0001g0044 |
2 | HG02809.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.1414-1446delG | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 12/22 | chr2 | 62946813 | |||||||
| chr2:62947006 | A | G | 1 | a0001c0001t0001g0124 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.1414-1254A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 12/22 | chr2 | 62947006 | |||||||
| chr2:62947599 | C | G | 1 | a0001c0001t0001g0177 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.1414-661C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 12/22 | chr2 | 62947599 | |||||||
| chr2:62947804 | G | A | 2 | a0001c0001t0001g0025 a0001c0001t0001g0031 |
2 | HG01074.hp1 HG02258.hp1 |
intron_variant | MODIFIER | c.1414-456G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 12/22 | chr2 | 62947804 | |||||||
| chr2:62949261 | A | G | 1 | a0001c0001t0001g0194 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.2316+99A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 13/22 | chr2 | 62949261 | |||||||
| chr2:62949303 | T | C | 1 | a0001c0001t0002g0085 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.2316+141T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 13/22 | chr2 | 62949303 | |||||||
| chr2:62949798 | C | G | 2 | a0001c0001t0001g0181 a0001c0001t0001g0184 |
2 | HG03453.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.2316+636C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 13/22 | chr2 | 62949798 | |||||||
| chr2:62949976 | T | C | 1 | a0001c0004t0001g0118 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.2316+814T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 13/22 | chr2 | 62949976 | |||||||
| chr2:62950207 | T | G | 1 | a0001c0001t0001g0198 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.2316+1045T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 13/22 | chr2 | 62950207 | |||||||
| chr2:62950645 | A | G | 1 | a0001c0001t0002g0102 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.2316+1483A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 13/22 | chr2 | 62950645 | |||||||
| chr2:62950693 | C | CT | 15 | a0001c0001t0002g0176 a0002c0002t0001g0004 a0002c0002t0001g0005 others(12): Show |
15 | HG00438.hp1 HG01123.hp1 HG01243.hp2 others(12): Show |
intron_variant | MODIFIER | c.2316+1540dupT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr2 | 62950693 | ||||||
| chr2:62950974 | C | T | 13 | a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0008 others(10): Show |
13 | HG00438.hp1 HG01123.hp1 HG01361.hp2 others(10): Show |
intron_variant | MODIFIER | c.2316+1812C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 13/22 | chr2 | 62950974 | |||||||
| chr2:62950976 | C | T | 82 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(79): Show |
82 | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(79): Show |
intron_variant | MODIFIER | c.2316+1814C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 13/22 | chr2 | 62950976 | |||||||
| chr2:62951240 | C | T | 1 | a0001c0001t0001g0073 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.2316+2078C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 13/22 | chr2 | 62951240 | |||||||
| chr2:62951303 | A | T | 1 | a0001c0008t0001g0076 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.2316+2141A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 13/22 | chr2 | 62951303 | |||||||
| chr2:62951465 | T | C | 1 | a0001c0001t0001g0167 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.2316+2303T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 13/22 | chr2 | 62951465 | |||||||
| chr2:62951520 | CT | C | 6 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(3): Show |
6 | HG01884.hp2 HG02818.hp1 HG02818.hp2 others(3): Show |
intron_variant | MODIFIER | c.2316+2372delT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr2 | 62951520 | ||||||
| chr2:62951533 | T | TG | 2 | a0001c0001t0002g0037 a0001c0001t0002g0095 |
2 | HG01981.hp1 NA18989.hp2 |
intron_variant | MODIFIER | c.2316+2371_2316+237 others(5): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 13/22 | chr2 | 62951533 | |||||||
| chr2:62951534 | T | G | 4 | a0001c0001t0001g0057 a0001c0001t0001g0117 a0001c0001t0002g0037 others(1): Show |
4 | HG01981.hp1 HG02109.hp1 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.2316+2372T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 13/22 | chr2 | 62951534 | |||||||
| chr2:62951534 | T | TG | 44 | a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0038 others(41): Show |
44 | HG00544.hp1 HG01070.hp1 HG01070.hp2 others(41): Show |
intron_variant | MODIFIER | c.2316+2384dupG | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr2 | 62951534 | ||||||
| chr2:62951534 | TG | T | 15 | a0001c0001t0001g0043 a0001c0001t0001g0074 a0001c0001t0001g0133 others(12): Show |
15 | HG01167.hp2 HG01496.hp2 HG02559.hp1 others(12): Show |
intron_variant | MODIFIER | c.2316+2384delG | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr2 | 62951534 | ||||||
| chr2:62951537 | G | T | 2 | a0001c0004t0001g0118 a0001c0004t0001g0121 |
2 | HG01167.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.2316+2375G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 13/22 | chr2 | 62951537 | |||||||
| chr2:62951540 | G | GA | 2 | a0001c0001t0001g0181 a0004c0009t0001g0197 |
2 | HG01243.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.2316+2378_2316+237 others(5): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 13/22 | chr2 | 62951540 | |||||||
| chr2:62951541 | G | T | 1 | a0001c0001t0001g0020 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.2316+2379G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 13/22 | chr2 | 62951541 | |||||||
| chr2:62951543 | G | T | 6 | a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0085 others(3): Show |
6 | HG02015.hp2 HG02071.hp2 HG02135.hp2 others(3): Show |
intron_variant | MODIFIER | c.2316+2381G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 13/22 | chr2 | 62951543 | |||||||
| chr2:62951649 | C | T | 2 | a0001c0004t0003g0114 a0001c0004t0003g0115 |
2 | HG02280.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.2316+2487C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 13/22 | chr2 | 62951649 | |||||||
| chr2:62951814 | C | T | 2 | a0001c0001t0001g0002 a0001c0001t0001g0003 |
2 | HG01256.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.2316+2652C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 13/22 | chr2 | 62951814 | |||||||
| chr2:62951941 | G | A | 119 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(116): Show |
119 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(116): Show |
intron_variant | MODIFIER | c.2316+2779G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 13/22 | chr2 | 62951941 | |||||||
| chr2:62952598 | C | A | 1 | a0001c0001t0002g0096 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.2317-2919C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 13/22 | chr2 | 62952598 | |||||||
| chr2:62952620 | C | T | 1 | a0001c0001t0001g0194 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.2317-2897C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 13/22 | chr2 | 62952620 | |||||||
| chr2:62952643 | A | G | 2 | a0001c0001t0001g0016 a0001c0001t0001g0017 |
2 | HG03195.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.2317-2874A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 13/22 | chr2 | 62952643 | |||||||
| chr2:62952800 | C | T | 1 | a0001c0001t0001g0175 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.2317-2717C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 13/22 | chr2 | 62952800 | |||||||
| chr2:62953217 | C | CA | 6 | a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0054 others(3): Show |
6 | HG02818.hp1 NA18952.hp1 NA18962.hp1 others(3): Show |
intron_variant | MODIFIER | c.2317-2276dupA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr2 | 62953217 | ||||||
| chr2:62953217 | CA | C | 146 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(143): Show |
146 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(143): Show |
intron_variant | MODIFIER | c.2317-2276delA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr2 | 62953217 | ||||||
| chr2:62953268 | A | G | 1 | a0001c0001t0001g0072 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.2317-2249A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 13/22 | chr2 | 62953268 | |||||||
| chr2:62953452 | G | C | 1 | a0001c0001t0001g0055 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.2317-2065G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 13/22 | chr2 | 62953452 | |||||||
| chr2:62953458 | A | C | 2 | a0001c0001t0002g0087 a0001c0001t0002g0100 |
2 | HG02071.hp2 HG02135.hp2 |
intron_variant | MODIFIER | c.2317-2059A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 13/22 | chr2 | 62953458 | |||||||
| chr2:62953678 | C | T | 1 | a0001c0001t0001g0196 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.2317-1839C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 13/22 | chr2 | 62953678 | |||||||
| chr2:62953770 | T | TA | 13 | a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0008 others(10): Show |
13 | HG00438.hp1 HG01123.hp1 HG01361.hp2 others(10): Show |
intron_variant | MODIFIER | c.2317-1738dupA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr2 | 62953770 | ||||||
| chr2:62953923 | C | T | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.2317-1594C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 13/22 | chr2 | 62953923 | |||||||
| chr2:62954333 | A | T | 1 | a0001c0001t0001g0116 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.2317-1184A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 13/22 | chr2 | 62954333 | |||||||
| chr2:62954546 | A | C | 14 | a0001c0001t0002g0176 a0002c0002t0001g0004 a0002c0002t0001g0005 others(11): Show |
14 | HG00438.hp1 HG01123.hp1 HG01361.hp2 others(11): Show |
intron_variant | MODIFIER | c.2317-971A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 13/22 | chr2 | 62954546 | |||||||
| chr2:62954974 | A | G | 1 | a0001c0001t0001g0030 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.2317-543A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 13/22 | chr2 | 62954974 | |||||||
| chr2:62955328 | A | T | 1 | a0001c0001t0002g0088 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.2317-189A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 13/22 | chr2 | 62955328 | |||||||
| chr2:62955476 | G | A | 1 | a0001c0001t0001g0178 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.2317-41G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 13/22 | chr2 | 62955476 | |||||||
| chr2:62955476 | G | GT | 13 | a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0001g0070 others(10): Show |
13 | HG00642.hp1 HG01261.hp1 HG01261.hp2 others(10): Show |
intron_variant | MODIFIER | c.2317-31dupT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr2 | 62955476 | ||||||
| chr2:62955830 | T | A | 6 | a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0188 others(3): Show |
6 | HG02717.hp2 HG03130.hp1 HG03540.hp2 others(3): Show |
intron_variant | MODIFIER | c.2460+170T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62955830 | |||||||
| chr2:62956186 | A | G | 2 | a0001c0004t0003g0114 a0001c0004t0003g0115 |
2 | HG02280.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.2460+526A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62956186 | |||||||
| chr2:62956210 | C | T | 1 | a0001c0001t0001g0145 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.2460+550C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62956210 | |||||||
| chr2:62956688 | G | GA | 7 | a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0044 others(4): Show |
7 | HG00642.hp2 HG01175.hp1 HG01243.hp2 others(4): Show |
intron_variant | MODIFIER | c.2460+1048dupA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr2 | 62956688 | ||||||
| chr2:62956688 | GA | G | 10 | a0001c0001t0001g0046 a0001c0001t0001g0054 a0001c0001t0001g0075 others(7): Show |
10 | HG01261.hp1 HG01261.hp2 HG02818.hp1 others(7): Show |
intron_variant | MODIFIER | c.2460+1048delA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr2 | 62956688 | ||||||
| chr2:62956688 | GAAAA | G | 6 | a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0148 others(3): Show |
6 | HG00639.hp2 HG02145.hp2 HG03239.hp2 others(3): Show |
intron_variant | MODIFIER | c.2460+1045_2460+104 others(8): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr2 | 62956688 | ||||||
| chr2:62956688 | GAAAAA | G | 56 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(53): Show |
56 | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(53): Show |
intron_variant | MODIFIER | c.2460+1044_2460+104 others(9): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr2 | 62956688 | ||||||
| chr2:62956875 | T | C | 1 | a0001c0001t0001g0078 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.2460+1215T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62956875 | |||||||
| chr2:62956916 | T | C | 1 | a0001c0001t0004g0089 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.2460+1256T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62956916 | |||||||
| chr2:62957155 | A | G | 1 | a0002c0002t0001g0014 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.2460+1495A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62957155 | |||||||
| chr2:62957641 | C | CT | 24 | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0030 others(21): Show |
24 | HG00544.hp2 HG01256.hp2 HG01261.hp1 others(21): Show |
intron_variant | MODIFIER | c.2460+2003dupT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr2 | 62957641 | ||||||
| chr2:62957641 | C | CTTTT | 5 | a0001c0001t0001g0067 a0001c0001t0001g0078 a0001c0001t0001g0079 others(2): Show |
5 | HG02258.hp2 HG02717.hp1 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.2460+2000_2460+200 others(8): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr2 | 62957641 | ||||||
| chr2:62957641 | C | CTTTTT | 8 | a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0142 others(5): Show |
8 | HG00639.hp2 HG01070.hp2 HG02155.hp1 others(5): Show |
intron_variant | MODIFIER | c.2460+1999_2460+200 others(9): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr2 | 62957641 | ||||||
| chr2:62957641 | C | CTTTTTT | 59 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(56): Show |
59 | HG00280.hp1 HG00438.hp1 HG00544.hp1 others(56): Show |
intron_variant | MODIFIER | c.2460+1998_2460+200 others(10): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr2 | 62957641 | ||||||
| chr2:62957641 | C | CTTTTTTT | 21 | a0001c0001t0001g0059 a0001c0001t0001g0123 a0001c0001t0001g0128 others(18): Show |
21 | HG00099.hp1 HG00621.hp1 HG00642.hp2 others(18): Show |
intron_variant | MODIFIER | c.2460+1997_2460+200 others(11): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr2 | 62957641 | ||||||
| chr2:62957641 | C | CTTTTTTT others(3): Show |
4 | a0001c0001t0001g0019 a0001c0001t0001g0065 a0001c0001t0001g0116 others(1): Show |
4 | HG02818.hp1 HG02818.hp2 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.2460+1994_2460+200 others(14): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr2 | 62957641 | ||||||
| chr2:62957641 | C | CTTTTTTT others(4): Show |
3 | a0001c0001t0001g0021 a0001c0001t0001g0062 a0001c0001t0001g0181 |
3 | HG03130.hp2 HG03453.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.2460+1993_2460+200 others(15): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr2 | 62957641 | ||||||
| chr2:62957641 | C | CTTTTTTT others(6): Show |
1 | a0001c0001t0001g0061 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.2460+1991_2460+200 others(17): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr2 | 62957641 | ||||||
| chr2:62957641 | C | CTTTTTTT others(15): Show |
1 | a0001c0001t0001g0043 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2460+1982_2460+200 others(26): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr2 | 62957641 | ||||||
| chr2:62957641 | C | CTTTTTTT others(19): Show |
1 | a0001c0001t0001g0044 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2460+2003_2460+200 others(30): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr2 | 62957641 | ||||||
| chr2:62957641 | C | CTTTTTTT others(26): Show |
1 | a0001c0001t0001g0064 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.2460+2003_2460+200 others(37): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr2 | 62957641 | ||||||
| chr2:62957641 | C | CTTTTTTT others(34): Show |
1 | a0001c0001t0001g0063 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2460+2003_2460+200 others(45): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr2 | 62957641 | ||||||
| chr2:62957641 | CT | C | 9 | a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0001g0073 others(6): Show |
9 | HG01361.hp1 HG01515.hp2 HG02698.hp2 others(6): Show |
intron_variant | MODIFIER | c.2460+2003delT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr2 | 62957641 | ||||||
| chr2:62958098 | G | C | 2 | a0001c0001t0001g0119 a0001c0001t0001g0120 |
2 | HG02922.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.2460+2438G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62958098 | |||||||
| chr2:62958104 | T | C | 1 | a0001c0001t0001g0051 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.2460+2444T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62958104 | |||||||
| chr2:62958348 | C | T | 1 | a0001c0001t0002g0176 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.2460+2688C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62958348 | |||||||
| chr2:62958498 | C | T | 1 | a0001c0001t0002g0037 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.2460+2838C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62958498 | |||||||
| chr2:62958527 | A | T | 1 | a0001c0001t0005g0066 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.2460+2867A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62958527 | |||||||
| chr2:62958604 | T | G | 1 | a0001c0001t0001g0194 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.2460+2944T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62958604 | |||||||
| chr2:62958688 | C | G | 1 | a0001c0001t0001g0181 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2460+3028C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62958688 | |||||||
| chr2:62958716 | A | T | 1 | a0001c0001t0001g0078 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.2460+3056A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62958716 | |||||||
| chr2:62959307 | G | C | 3 | a0001c0001t0001g0130 a0001c0001t0001g0175 a0001c0001t0001g0193 |
3 | HG02165.hp2 HG03239.hp2 HG04228.hp2 |
intron_variant | MODIFIER | c.2460+3647G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62959307 | |||||||
| chr2:62959365 | G | A | 2 | a0001c0001t0001g0043 a0001c0001t0001g0044 |
2 | HG02809.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.2460+3705G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62959365 | |||||||
| chr2:62959979 | T | C | 32 | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 others(29): Show |
32 | HG00099.hp2 HG00280.hp2 HG00642.hp2 others(29): Show |
intron_variant | MODIFIER | c.2460+4319T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62959979 | |||||||
| chr2:62960183 | C | A | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.2460+4523C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62960183 | |||||||
| chr2:62960231 | C | T | 2 | a0001c0001t0001g0022 a0001c0001t0001g0023 |
2 | HG03491.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.2460+4571C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62960231 | |||||||
| chr2:62960243 | C | T | 1 | a0001c0001t0001g0141 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.2460+4583C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62960243 | |||||||
| chr2:62960871 | A | G | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.2460+5211A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62960871 | |||||||
| chr2:62961152 | A | G | 1 | a0001c0001t0001g0166 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.2460+5492A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62961152 | |||||||
| chr2:62961257 | C | A | 10 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(7): Show |
10 | HG02109.hp2 HG02280.hp1 HG02559.hp2 others(7): Show |
intron_variant | MODIFIER | c.2460+5597C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62961257 | |||||||
| chr2:62961398 | A | G | 2 | a0001c0001t0001g0119 a0001c0001t0001g0120 |
2 | HG02922.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.2460+5738A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62961398 | |||||||
| chr2:62962088 | G | A | 4 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show |
4 | HG02258.hp2 HG02717.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.2460+6428G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62962088 | |||||||
| chr2:62962447 | G | A | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.2460+6787G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62962447 | |||||||
| chr2:62962467 | G | A | 1 | a0001c0001t0001g0063 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2460+6807G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62962467 | |||||||
| chr2:62962783 | A | G | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.2460+7123A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62962783 | |||||||
| chr2:62963191 | G | A | 1 | a0001c0001t0001g0146 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.2460+7531G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62963191 | |||||||
| chr2:62963333 | G | A | 4 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show |
4 | HG02258.hp2 HG02717.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.2460+7673G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62963333 | |||||||
| chr2:62963419 | A | T | 1 | a0001c0003t0001g0191 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.2460+7759A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62963419 | |||||||
| chr2:62963460 | T | A | 1 | a0001c0001t0001g0039 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.2460+7800T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62963460 | |||||||
| chr2:62963461 | T | C | 1 | a0001c0001t0001g0039 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.2460+7801T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62963461 | |||||||
| chr2:62963668 | A | G | 1 | a0001c0001t0002g0102 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.2460+8008A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62963668 | |||||||
| chr2:62963730 | A | G | 2 | a0001c0004t0003g0114 a0001c0004t0003g0115 |
2 | HG02280.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.2460+8070A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62963730 | |||||||
| chr2:62963738 | G | C | 1 | a0001c0001t0001g0152 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.2460+8078G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62963738 | |||||||
| chr2:62963793 | A | G | 3 | a0001c0001t0001g0028 a0001c0001t0001g0171 a0001c0001t0001g0172 |
3 | HG01346.hp1 HG01496.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.2460+8133A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62963793 | |||||||
| chr2:62964024 | G | A | 1 | a0001c0001t0001g0123 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.2460+8364G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62964024 | |||||||
| chr2:62964267 | A | C | 1 | a0001c0001t0001g0157 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.2460+8607A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62964267 | |||||||
| chr2:62964944 | A | G | 1 | a0001c0001t0001g0031 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.2460+9284A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62964944 | |||||||
| chr2:62965396 | C | T | 1 | a0001c0001t0001g0177 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.2460+9736C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62965396 | |||||||
| chr2:62965807 | G | A | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.2460+10147G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62965807 | |||||||
| chr2:62965846 | A | G | 1 | a0001c0001t0001g0181 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2460+10186A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62965846 | |||||||
| chr2:62966146 | A | G | 2 | a0001c0001t0001g0016 a0001c0001t0001g0017 |
2 | HG03195.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.2460+10486A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62966146 | |||||||
| chr2:62966275 | A | C | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.2460+10615A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62966275 | |||||||
| chr2:62968044 | T | C | 83 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(80): Show |
83 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(80): Show |
intron_variant | MODIFIER | c.2461-11144T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62968044 | |||||||
| chr2:62968668 | T | G | 1 | a0001c0001t0001g0017 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2461-10520T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62968668 | |||||||
| chr2:62968919 | G | A | 2 | a0001c0001t0001g0045 a0001c0001t0001g0046 |
2 | NA18972.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.2461-10269G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62968919 | |||||||
| chr2:62969092 | CT | C | 92 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(89): Show |
92 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(89): Show |
intron_variant | MODIFIER | c.2461-10089delT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr2 | 62969092 | ||||||
| chr2:62969094 | T | C | 7 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(4): Show |
7 | HG02109.hp2 HG02280.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.2461-10094T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62969094 | |||||||
| chr2:62969214 | C | G | 1 | a0001c0001t0001g0031 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.2461-9974C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62969214 | |||||||
| chr2:62969246 | A | G | 1 | a0002c0002t0001g0014 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.2461-9942A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62969246 | |||||||
| chr2:62969495 | A | G | 1 | a0001c0001t0001g0181 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2461-9693A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62969495 | |||||||
| chr2:62970133 | G | C | 1 | a0001c0001t0001g0074 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.2461-9055G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62970133 | |||||||
| chr2:62970401 | G | T | 4 | a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0001g0070 others(1): Show |
4 | HG01261.hp2 HG01361.hp1 HG01515.hp2 others(1): Show |
intron_variant | MODIFIER | c.2461-8787G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62970401 | |||||||
| chr2:62970402 | T | G | 14 | a0001c0001t0001g0194 a0001c0001t0002g0112 a0002c0002t0001g0004 others(11): Show |
14 | HG00438.hp1 HG01074.hp2 HG01123.hp1 others(11): Show |
intron_variant | MODIFIER | c.2461-8786T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62970402 | |||||||
| chr2:62971198 | T | C | 1 | a0001c0001t0001g0162 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.2461-7990T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62971198 | |||||||
| chr2:62971216 | T | C | 1 | a0001c0001t0001g0072 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.2461-7972T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62971216 | |||||||
| chr2:62971348 | G | A | 1 | a0001c0001t0001g0054 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.2461-7840G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62971348 | |||||||
| chr2:62971627 | A | T | 1 | a0001c0001t0002g0112 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.2461-7561A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62971627 | |||||||
| chr2:62971719 | G | C | 1 | a0001c0001t0002g0080 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.2461-7469G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62971719 | |||||||
| chr2:62971727 | A | T | 3 | a0001c0001t0001g0122 a0001c0001t0001g0128 a0001c0001t0001g0129 |
3 | NA18999.hp1 NA19077.hp1 NA19079.hp2 |
intron_variant | MODIFIER | c.2461-7461A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62971727 | |||||||
| chr2:62972483 | G | C | 1 | a0001c0001t0001g0123 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.2461-6705G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62972483 | |||||||
| chr2:62972559 | A | T | 1 | a0001c0001t0001g0167 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.2461-6629A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62972559 | |||||||
| chr2:62972574 | A | G | 6 | a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG00642.hp1 HG01261.hp2 HG01361.hp1 others(3): Show |
intron_variant | MODIFIER | c.2461-6614A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62972574 | |||||||
| chr2:62972655 | A | G | 1 | a0001c0001t0001g0028 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.2461-6533A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62972655 | |||||||
| chr2:62973159 | A | G | 160 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(157): Show |
160 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(157): Show |
intron_variant | MODIFIER | c.2461-6029A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62973159 | |||||||
| chr2:62973285 | T | C | 2 | a0001c0004t0001g0118 a0001c0004t0001g0121 |
2 | HG01167.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.2461-5903T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62973285 | |||||||
| chr2:62973604 | C | T | 1 | a0001c0001t0001g0049 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.2461-5584C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62973604 | |||||||
| chr2:62973653 | C | A | 2 | a0001c0001t0001g0043 a0001c0001t0001g0044 |
2 | HG02809.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.2461-5535C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62973653 | |||||||
| chr2:62973869 | C | T | 2 | a0001c0001t0001g0119 a0001c0001t0001g0120 |
2 | HG02922.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.2461-5319C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62973869 | |||||||
| chr2:62974201 | A | G | 1 | a0001c0001t0001g0177 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.2461-4987A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62974201 | |||||||
| chr2:62974250 | A | G | 1 | a0001c0003t0001g0187 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.2461-4938A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62974250 | |||||||
| chr2:62974579 | T | A | 183 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(180): Show |
183 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(180): Show |
intron_variant | MODIFIER | c.2461-4609T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62974579 | |||||||
| chr2:62974741 | G | A | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.2461-4447G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62974741 | |||||||
| chr2:62974856 | G | A | 1 | a0001c0001t0001g0056 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.2461-4332G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62974856 | |||||||
| chr2:62974961 | G | A | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.2461-4227G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62974961 | |||||||
| chr2:62974991 | G | A | 1 | a0001c0001t0001g0078 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.2461-4197G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62974991 | |||||||
| chr2:62975527 | G | C | 6 | a0001c0001t0001g0015 a0001c0001t0001g0049 a0001c0001t0001g0050 others(3): Show |
6 | HG00438.hp2 HG00621.hp2 HG02165.hp1 others(3): Show |
intron_variant | MODIFIER | c.2461-3661G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62975527 | |||||||
| chr2:62975671 | C | CCTAG | 13 | a0001c0001t0001g0194 a0002c0002t0001g0004 a0002c0002t0001g0005 others(10): Show |
13 | HG00438.hp1 HG01074.hp2 HG01123.hp1 others(10): Show |
intron_variant | MODIFIER | c.2461-3516_2461-351 others(8): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr2 | 62975671 | ||||||
| chr2:62975862 | T | C | 148 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(145): Show |
148 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(145): Show |
intron_variant | MODIFIER | c.2461-3326T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62975862 | |||||||
| chr2:62975887 | T | TAC | 28 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0047 others(25): Show |
28 | HG00099.hp1 HG00544.hp2 HG00558.hp2 others(25): Show |
intron_variant | MODIFIER | c.2461-3253_2461-325 others(6): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr2 | 62975887 | ||||||
| chr2:62975887 | T | TACAC | 5 | a0001c0001t0001g0161 a0001c0001t0002g0083 a0001c0001t0002g0104 others(2): Show |
5 | HG01257.hp2 HG01258.hp2 NA18955.hp1 others(2): Show |
intron_variant | MODIFIER | c.2461-3255_2461-325 others(8): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr2 | 62975887 | ||||||
| chr2:62975887 | T | TACACAC | 6 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0079 others(3): Show |
6 | HG00642.hp2 HG01256.hp1 HG01258.hp1 others(3): Show |
intron_variant | MODIFIER | c.2461-3257_2461-325 others(10): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr2 | 62975887 | ||||||
| chr2:62975887 | T | TACACACA others(3): Show |
2 | a0001c0001t0001g0078 a0001c0001t0001g0162 |
2 | HG02258.hp2 NA18989.hp1 |
intron_variant | MODIFIER | c.2461-3261_2461-325 others(14): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr2 | 62975887 | ||||||
| chr2:62975887 | T | TATACACA others(5): Show |
1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.2461-3300_2461-329 others(16): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr2 | 62975887 | ||||||
| chr2:62975887 | TAC | T | 53 | a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0017 others(50): Show |
53 | HG00099.hp2 HG00438.hp1 HG00621.hp1 others(50): Show |
intron_variant | MODIFIER | c.2461-3253_2461-325 others(6): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr2 | 62975887 | ||||||
| chr2:62975887 | TACAC | T | 15 | a0001c0001t0001g0030 a0001c0001t0001g0038 a0001c0001t0001g0043 others(12): Show |
15 | HG00280.hp1 HG00544.hp1 HG00639.hp2 others(12): Show |
intron_variant | MODIFIER | c.2461-3255_2461-325 others(8): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr2 | 62975887 | ||||||
| chr2:62975887 | TACACAC | T | 17 | a0001c0001t0001g0007 a0001c0001t0001g0024 a0001c0001t0001g0032 others(14): Show |
17 | HG00280.hp2 HG00642.hp1 HG00738.hp2 others(14): Show |
intron_variant | MODIFIER | c.2461-3257_2461-325 others(10): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr2 | 62975887 | ||||||
| chr2:62975887 | TACACACA others(1): Show |
T | 2 | a0001c0001t0001g0073 a0001c0003t0001g0189 |
2 | HG02698.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.2461-3259_2461-325 others(12): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr2 | 62975887 | ||||||
| chr2:62975887 | TACACACA others(5): Show |
T | 6 | a0001c0001t0001g0015 a0001c0001t0001g0049 a0001c0001t0001g0050 others(3): Show |
6 | HG00438.hp2 HG00621.hp2 HG02165.hp1 others(3): Show |
intron_variant | MODIFIER | c.2461-3263_2461-325 others(16): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr2 | 62975887 | ||||||
| chr2:62975887 | TACACACA others(11): Show |
T | 1 | a0001c0001t0001g0185 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.2461-3269_2461-325 others(22): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr2 | 62975887 | ||||||
| chr2:62975937 | T | C | 3 | a0001c0001t0002g0091 a0001c0001t0002g0176 a0001c0007t0002g0097 |
3 | HG01070.hp1 HG03704.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.2461-3251T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62975937 | |||||||
| chr2:62975958 | A | G | 1 | a0001c0001t0001g0064 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.2461-3230A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62975958 | |||||||
| chr2:62976451 | C | G | 6 | a0001c0001t0001g0015 a0001c0001t0001g0049 a0001c0001t0001g0050 others(3): Show |
6 | HG00438.hp2 HG00621.hp2 HG02165.hp1 others(3): Show |
intron_variant | MODIFIER | c.2461-2737C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62976451 | |||||||
| chr2:62976491 | G | A | 2 | a0001c0001t0002g0104 a0001c0001t0002g0105 |
2 | HG01257.hp2 HG01258.hp2 |
intron_variant | MODIFIER | c.2461-2697G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62976491 | |||||||
| chr2:62976547 | T | C | 1 | a0001c0001t0001g0182 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.2461-2641T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62976547 | |||||||
| chr2:62977317 | G | A | 4 | a0001c0001t0002g0094 a0001c0001t0002g0099 a0001c0001t0002g0176 others(1): Show |
4 | HG01070.hp1 HG01346.hp2 HG03710.hp1 others(1): Show |
intron_variant | MODIFIER | c.2461-1871G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62977317 | |||||||
| chr2:62977410 | T | G | 4 | a0001c0001t0002g0094 a0001c0001t0002g0099 a0001c0001t0002g0176 others(1): Show |
4 | HG01070.hp1 HG01346.hp2 HG03710.hp1 others(1): Show |
intron_variant | MODIFIER | c.2461-1778T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62977410 | |||||||
| chr2:62977438 | C | T | 1 | a0001c0004t0003g0115 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.2461-1750C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62977438 | |||||||
| chr2:62977476 | C | T | 91 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(88): Show |
91 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(88): Show |
intron_variant | MODIFIER | c.2461-1712C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62977476 | |||||||
| chr2:62977524 | C | G | 2 | a0001c0001t0001g0116 a0001c0001t0001g0117 |
2 | HG02818.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.2461-1664C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62977524 | |||||||
| chr2:62977686 | A | G | 1 | a0001c0001t0001g0185 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.2461-1502A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62977686 | |||||||
| chr2:62977716 | A | G | 1 | a0001c0001t0001g0181 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2461-1472A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62977716 | |||||||
| chr2:62977839 | G | C | 1 | a0001c0001t0001g0067 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.2461-1349G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62977839 | |||||||
| chr2:62978201 | C | CT | 6 | a0001c0001t0001g0007 a0001c0001t0001g0035 a0001c0001t0001g0116 others(3): Show |
6 | HG01071.hp2 HG01361.hp1 HG01884.hp1 others(3): Show |
intron_variant | MODIFIER | c.2461-971dupT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr2 | 62978201 | ||||||
| chr2:62978669 | A | G | 1 | a0001c0001t0001g0044 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2461-519A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | chr2 | 62978669 | |||||||
| chr2:62979353 | C | G | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.2608+18C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 15/22 | chr2 | 62979353 | |||||||
| chr2:62979355 | A | G | 6 | a0001c0001t0001g0123 a0001c0001t0001g0133 a0001c0001t0001g0134 others(3): Show |
6 | HG02145.hp2 HG02559.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.2608+20A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 15/22 | chr2 | 62979355 | |||||||
| chr2:62979866 | G | C | 1 | a0001c0001t0001g0185 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.2608+531G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 15/22 | chr2 | 62979866 | |||||||
| chr2:62981069 | C | CA | 6 | a0001c0001t0001g0052 a0001c0001t0001g0116 a0001c0001t0001g0117 others(3): Show |
6 | HG01175.hp2 HG02818.hp1 HG03139.hp2 others(3): Show |
intron_variant | MODIFIER | c.2608+1755dupA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | 62981069 | ||||||
| chr2:62981069 | CA | C | 6 | a0001c0001t0001g0035 a0001c0001t0001g0049 a0001c0001t0001g0123 others(3): Show |
6 | HG01884.hp1 HG02015.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.2608+1755delA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | 62981069 | ||||||
| chr2:62981325 | T | C | 96 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(93): Show |
96 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(93): Show |
intron_variant | MODIFIER | c.2608+1990T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 15/22 | chr2 | 62981325 | |||||||
| chr2:62982179 | A | G | 14 | a0001c0001t0001g0194 a0002c0002t0001g0004 a0002c0002t0001g0005 others(11): Show |
14 | HG00438.hp1 HG01074.hp2 HG01123.hp1 others(11): Show |
intron_variant | MODIFIER | c.2608+2844A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 15/22 | chr2 | 62982179 | |||||||
| chr2:62983008 | C | G | 1 | a0001c0001t0001g0149 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.2608+3673C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 15/22 | chr2 | 62983008 | |||||||
| chr2:62983018 | C | T | 2 | a0001c0001t0001g0043 a0001c0001t0001g0044 |
2 | HG02809.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.2608+3683C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 15/22 | chr2 | 62983018 | |||||||
| chr2:62983698 | T | C | 1 | a0002c0002t0001g0195 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2608+4363T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 15/22 | chr2 | 62983698 | |||||||
| chr2:62983837 | C | T | 2 | a0001c0001t0001g0062 a0001c0001t0001g0065 |
2 | HG03139.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.2608+4502C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 15/22 | chr2 | 62983837 | |||||||
| chr2:62984064 | TG | T | 9 | a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 others(6): Show |
9 | HG02109.hp2 HG02559.hp2 HG02818.hp1 others(6): Show |
intron_variant | MODIFIER | c.2608+4730delG | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 15/22 | chr2 | 62984064 | |||||||
| chr2:62984242 | C | T | 3 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 |
3 | HG02258.hp2 HG02717.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.2608+4907C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 15/22 | chr2 | 62984242 | |||||||
| chr2:62984309 | C | T | 2 | a0001c0001t0001g0063 a0001c0001t0001g0067 |
2 | HG02109.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.2608+4974C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 15/22 | chr2 | 62984309 | |||||||
| chr2:62984718 | T | C | 1 | a0001c0001t0001g0150 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.2608+5383T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 15/22 | chr2 | 62984718 | |||||||
| chr2:62984799 | C | A | 4 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show |
4 | HG02258.hp2 HG02717.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.2608+5464C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 15/22 | chr2 | 62984799 | |||||||
| chr2:62985058 | C | T | 1 | a0001c0001t0002g0080 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.2609-5658C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 15/22 | chr2 | 62985058 | |||||||
| chr2:62985232 | C | T | 1 | a0002c0002t0001g0014 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.2609-5484C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 15/22 | chr2 | 62985232 | |||||||
| chr2:62985396 | A | G | 2 | a0001c0001t0001g0035 a0001c0001t0001g0036 |
2 | HG01884.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.2609-5320A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 15/22 | chr2 | 62985396 | |||||||
| chr2:62985702 | G | A | 6 | a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0188 others(3): Show |
6 | HG02717.hp2 HG03130.hp1 HG03540.hp2 others(3): Show |
intron_variant | MODIFIER | c.2609-5014G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 15/22 | chr2 | 62985702 | |||||||
| chr2:62986583 | C | T | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.2609-4133C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 15/22 | chr2 | 62986583 | |||||||
| chr2:62986745 | T | C | 1 | a0001c0001t0002g0080 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.2609-3971T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 15/22 | chr2 | 62986745 | |||||||
| chr2:62986835 | T | C | 80 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(77): Show |
80 | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(77): Show |
intron_variant | MODIFIER | c.2609-3881T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 15/22 | chr2 | 62986835 | |||||||
| chr2:62987401 | T | A | 1 | a0002c0002t0001g0195 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2609-3315T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 15/22 | chr2 | 62987401 | |||||||
| chr2:62987492 | A | G | 1 | a0001c0001t0001g0185 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.2609-3224A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 15/22 | chr2 | 62987492 | |||||||
| chr2:62987919 | A | G | 2 | a0001c0001t0001g0119 a0001c0001t0001g0120 |
2 | HG02922.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.2609-2797A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 15/22 | chr2 | 62987919 | |||||||
| chr2:62988063 | G | A | 1 | a0001c0008t0001g0076 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.2609-2653G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 15/22 | chr2 | 62988063 | |||||||
| chr2:62988328 | C | T | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.2609-2388C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 15/22 | chr2 | 62988328 | |||||||
| chr2:62988687 | A | G | 2 | a0001c0001t0001g0171 a0001c0001t0001g0172 |
2 | HG01346.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.2609-2029A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 15/22 | chr2 | 62988687 | |||||||
| chr2:62988777 | G | A | 1 | a0001c0001t0001g0038 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.2609-1939G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 15/22 | chr2 | 62988777 | |||||||
| chr2:62988847 | G | C | 2 | a0001c0001t0001g0116 a0001c0001t0001g0117 |
2 | HG02818.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.2609-1869G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 15/22 | chr2 | 62988847 | |||||||
| chr2:62988858 | T | C | 1 | a0001c0001t0001g0031 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.2609-1858T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 15/22 | chr2 | 62988858 | |||||||
| chr2:62988860 | A | G | 4 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(1): Show |
4 | HG01884.hp2 HG02818.hp2 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.2609-1856A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 15/22 | chr2 | 62988860 | |||||||
| chr2:62988979 | C | G | 2 | a0001c0001t0001g0043 a0001c0001t0001g0044 |
2 | HG02809.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.2609-1737C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 15/22 | chr2 | 62988979 | |||||||
| chr2:62989035 | G | A | 1 | a0001c0001t0002g0143 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.2609-1681G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 15/22 | chr2 | 62989035 | |||||||
| chr2:62989156 | T | G | 2 | a0001c0001t0001g0116 a0001c0001t0001g0117 |
2 | HG02818.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.2609-1560T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 15/22 | chr2 | 62989156 | |||||||
| chr2:62989208 | T | A | 7 | a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0001g0070 others(4): Show |
7 | HG00642.hp1 HG01261.hp2 HG01361.hp1 others(4): Show |
intron_variant | MODIFIER | c.2609-1508T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 15/22 | chr2 | 62989208 | |||||||
| chr2:62989209 | A | T | 21 | a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0002g0080 others(18): Show |
21 | HG00558.hp1 HG01243.hp1 HG01257.hp2 others(18): Show |
intron_variant | MODIFIER | c.2609-1507A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 15/22 | chr2 | 62989209 | |||||||
| chr2:62989527 | C | G | 1 | a0001c0001t0001g0078 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.2609-1189C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 15/22 | chr2 | 62989527 | |||||||
| chr2:62990431 | T | C | 2 | a0001c0001t0001g0022 a0001c0001t0001g0023 |
2 | HG03491.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.2609-285T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 15/22 | chr2 | 62990431 | |||||||
| chr2:62990981 | G | A | 2 | a0001c0004t0001g0118 a0001c0004t0001g0121 |
2 | HG01167.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.2733+141G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 16/22 | chr2 | 62990981 | |||||||
| chr2:62991564 | A | C | 1 | a0001c0001t0001g0117 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.2733+724A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 16/22 | chr2 | 62991564 | |||||||
| chr2:62991759 | C | A | 1 | a0001c0001t0001g0016 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2733+919C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 16/22 | chr2 | 62991759 | |||||||
| chr2:62993064 | G | A | 1 | a0001c0001t0001g0136 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.2734-466G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 16/22 | chr2 | 62993064 | |||||||
| chr2:62993453 | T | C | 1 | a0001c0001t0002g0176 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.2734-77T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 16/22 | chr2 | 62993453 | |||||||
| chr2:62993483 | T | C | 1 | a0001c0001t0001g0198 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.2734-47T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 16/22 | chr2 | 62993483 | |||||||
| chr2:62993526 | T | C | 1 | a0001c0006t0001g0160 | 1 | HG00738.hp1 | splice_region_variant&intron_variant | LOW | c.2734-4T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 16/22 | chr2 | 62993526 | |||||||
| chr2:62993724 | C | CTATATAT others(32): Show |
1 | a0001c0003t0001g0187 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.2872+73_2873-92dup others(39): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr2 | 62993724 | ||||||
| chr2:62993834 | C | T | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.2873-37C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 17/22 | chr2 | 62993834 | |||||||
| chr2:62994140 | G | A | 1 | a0002c0002t0001g0195 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2979+163G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 18/22 | chr2 | 62994140 | |||||||
| chr2:62995633 | A | T | 1 | a0001c0001t0001g0048 | 1 | NA18999.hp2 | intron_variant | MODIFIER | c.2980-1010A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 18/22 | chr2 | 62995633 | |||||||
| chr2:62996024 | C | G | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.2980-619C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 18/22 | chr2 | 62996024 | |||||||
| chr2:62996450 | C | G | 2 | a0001c0001t0001g0043 a0001c0001t0001g0044 |
2 | HG02809.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.2980-193C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 18/22 | chr2 | 62996450 | |||||||
| chr2:62996873 | C | G | 2 | a0001c0001t0002g0111 a0001c0001t0002g0113 |
2 | HG01243.hp1 HG02300.hp1 |
intron_variant | MODIFIER | c.3103+107C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 62996873 | |||||||
| chr2:62997084 | A | AT | 4 | a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 others(1): Show |
4 | HG00558.hp2 HG00621.hp1 HG02071.hp1 others(1): Show |
intron_variant | MODIFIER | c.3103+320dupT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 62997084 | ||||||
| chr2:62997393 | A | G | 1 | a0001c0001t0001g0184 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.3103+627A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 62997393 | |||||||
| chr2:62997427 | C | CGT | 5 | a0001c0001t0001g0003 a0001c0001t0001g0128 a0001c0001t0001g0133 others(2): Show |
5 | HG00558.hp2 HG01258.hp1 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.3103+661_3103+662i others(4): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 62997427 | |||||||
| chr2:62997427 | C | CGTGT | 2 | a0001c0001t0001g0147 a0001c0001t0001g0177 |
2 | HG02015.hp1 HG02071.hp1 |
intron_variant | MODIFIER | c.3103+661_3103+662i others(6): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 62997427 | |||||||
| chr2:62997427 | CAT | C | 35 | a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0017 others(32): Show |
35 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(32): Show |
intron_variant | MODIFIER | c.3103+662_3103+663d others(4): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 62997427 | |||||||
| chr2:62997427 | CATGT | C | 39 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0018 others(36): Show |
39 | HG00738.hp1 HG01070.hp2 HG01071.hp1 others(36): Show |
intron_variant | MODIFIER | c.3103+662_3103+665d others(6): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 62997427 | |||||||
| chr2:62997427 | CATGTGT | C | 9 | a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0041 others(6): Show |
9 | HG00438.hp1 HG00738.hp2 HG01123.hp1 others(6): Show |
intron_variant | MODIFIER | c.3103+662_3103+667d others(8): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 62997427 | |||||||
| chr2:62997428 | A | ATG | 9 | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 others(6): Show |
9 | HG00099.hp2 HG01074.hp1 HG02258.hp1 others(6): Show |
intron_variant | MODIFIER | c.3103+710_3103+711d others(4): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 62997428 | ||||||
| chr2:62997428 | A | ATGTG | 4 | a0001c0001t0001g0185 a0001c0001t0002g0104 a0001c0001t0002g0105 others(1): Show |
4 | HG01257.hp2 HG01258.hp2 HG02145.hp1 others(1): Show |
intron_variant | MODIFIER | c.3103+708_3103+711d others(6): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 62997428 | ||||||
| chr2:62997428 | A | G | 33 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0042 others(30): Show |
33 | HG00544.hp1 HG00558.hp2 HG00621.hp1 others(30): Show |
intron_variant | MODIFIER | c.3103+662A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 62997428 | |||||||
| chr2:62997428 | ATG | A | 26 | a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0061 others(23): Show |
26 | HG00558.hp1 HG01071.hp2 HG01243.hp1 others(23): Show |
intron_variant | MODIFIER | c.3103+710_3103+711d others(4): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 62997428 | ||||||
| chr2:62997428 | ATGTG | A | 16 | a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0039 others(13): Show |
16 | HG00438.hp2 HG00544.hp2 HG00621.hp2 others(13): Show |
intron_variant | MODIFIER | c.3103+708_3103+711d others(6): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 62997428 | ||||||
| chr2:62997428 | ATGTGTGT others(1): Show |
A | 2 | a0001c0001t0001g0052 a0001c0001t0002g0095 |
2 | NA18989.hp2 NA18995.hp2 |
intron_variant | MODIFIER | c.3103+704_3103+711d others(10): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 62997428 | ||||||
| chr2:62997891 | G | C | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.3103+1125G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 62997891 | |||||||
| chr2:62998042 | CT | C | 10 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(7): Show |
10 | HG02109.hp2 HG02280.hp1 HG02559.hp2 others(7): Show |
intron_variant | MODIFIER | c.3103+1281delT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 62998042 | ||||||
| chr2:62998048 | A | T | 1 | a0001c0001t0001g0021 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.3103+1282A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 62998048 | |||||||
| chr2:62998581 | T | C | 1 | a0001c0001t0002g0088 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.3103+1815T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 62998581 | |||||||
| chr2:62998652 | T | C | 1 | a0001c0008t0001g0076 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.3103+1886T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 62998652 | |||||||
| chr2:62999827 | G | A | 2 | a0001c0001t0001g0016 a0001c0001t0001g0017 |
2 | HG03195.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.3103+3061G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 62999827 | |||||||
| chr2:63000123 | G | A | 1 | a0001c0010t0001g0155 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.3103+3357G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63000123 | |||||||
| chr2:63000386 | T | G | 2 | a0001c0001t0001g0116 a0001c0001t0001g0117 |
2 | HG02818.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.3103+3620T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63000386 | |||||||
| chr2:63000470 | T | C | 3 | a0001c0001t0001g0124 a0001c0001t0001g0178 a0001c0001t0001g0179 |
3 | HG01123.hp2 HG01167.hp1 HG02293.hp2 |
intron_variant | MODIFIER | c.3103+3704T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63000470 | |||||||
| chr2:63000592 | G | T | 2 | a0001c0001t0001g0139 a0001c0001t0001g0142 |
2 | HG01257.hp1 HG03017.hp2 |
intron_variant | MODIFIER | c.3103+3826G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63000592 | |||||||
| chr2:63000660 | T | C | 2 | a0001c0001t0001g0016 a0001c0001t0001g0017 |
2 | HG03195.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.3103+3894T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63000660 | |||||||
| chr2:63001436 | T | A | 1 | a0001c0001t0001g0026 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.3103+4670T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63001436 | |||||||
| chr2:63001536 | T | C | 1 | a0001c0001t0001g0165 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.3103+4770T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63001536 | |||||||
| chr2:63001791 | C | T | 7 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(4): Show |
7 | HG02109.hp2 HG02280.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.3103+5025C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63001791 | |||||||
| chr2:63001861 | G | A | 1 | a0001c0001t0001g0145 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.3103+5095G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63001861 | |||||||
| chr2:63002415 | A | C | 2 | a0001c0001t0002g0092 a0001c0001t0002g0093 |
2 | HG00544.hp2 NA19012.hp2 |
intron_variant | MODIFIER | c.3103+5649A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63002415 | |||||||
| chr2:63002651 | G | A | 1 | a0001c0001t0001g0134 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.3103+5885G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63002651 | |||||||
| chr2:63002815 | T | C | 1 | a0001c0001t0001g0077 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.3103+6049T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63002815 | |||||||
| chr2:63002946 | T | C | 13 | a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0001g0070 others(10): Show |
13 | HG00642.hp1 HG01261.hp2 HG01361.hp1 others(10): Show |
intron_variant | MODIFIER | c.3103+6180T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63002946 | |||||||
| chr2:63002971 | A | G | 1 | a0001c0001t0001g0043 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.3103+6205A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63002971 | |||||||
| chr2:63003217 | A | C | 1 | a0002c0002t0001g0195 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.3103+6451A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63003217 | |||||||
| chr2:63003686 | G | T | 1 | a0001c0001t0001g0072 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.3103+6920G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63003686 | |||||||
| chr2:63004074 | G | T | 1 | a0001c0001t0001g0133 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.3103+7308G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63004074 | |||||||
| chr2:63004184 | G | A | 1 | a0001c0001t0001g0158 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.3103+7418G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63004184 | |||||||
| chr2:63004399 | A | G | 159 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(156): Show |
159 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(156): Show |
intron_variant | MODIFIER | c.3103+7633A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63004399 | |||||||
| chr2:63004648 | C | T | 1 | a0001c0001t0001g0117 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.3103+7882C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63004648 | |||||||
| chr2:63004674 | A | G | 1 | a0001c0001t0001g0181 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.3103+7908A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63004674 | |||||||
| chr2:63004969 | G | A | 2 | a0001c0001t0001g0141 a0001c0001t0001g0150 |
2 | NA18747.hp1 NA19057.hp1 |
intron_variant | MODIFIER | c.3103+8203G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63004969 | |||||||
| chr2:63005095 | T | C | 1 | a0002c0002t0001g0195 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.3103+8329T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63005095 | |||||||
| chr2:63005962 | A | G | 1 | a0001c0001t0001g0130 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.3103+9196A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63005962 | |||||||
| chr2:63006182 | A | G | 1 | a0001c0001t0001g0033 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.3103+9416A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63006182 | |||||||
| chr2:63006187 | A | G | 1 | a0001c0001t0001g0198 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.3103+9421A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63006187 | |||||||
| chr2:63006700 | ACT | A | 4 | a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0067 others(1): Show |
4 | HG02109.hp2 HG02280.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.3103+9937_3103+993 others(6): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63006700 | ||||||
| chr2:63006827 | A | G | 1 | a0001c0001t0001g0029 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.3103+10061A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63006827 | |||||||
| chr2:63007009 | T | C | 1 | a0001c0001t0001g0184 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.3103+10243T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63007009 | |||||||
| chr2:63007418 | A | G | 15 | a0001c0001t0001g0122 a0001c0001t0001g0194 a0002c0002t0001g0004 others(12): Show |
15 | HG00438.hp1 HG01074.hp2 HG01123.hp1 others(12): Show |
intron_variant | MODIFIER | c.3103+10652A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63007418 | |||||||
| chr2:63007867 | A | T | 7 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(4): Show |
7 | HG02109.hp2 HG02280.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.3103+11101A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63007867 | |||||||
| chr2:63007931 | GACAA | G | 2 | a0001c0001t0001g0078 a0001c0001t0001g0079 |
2 | HG02258.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.3103+11169_3103+11 others(10): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63007931 | ||||||
| chr2:63008864 | A | C | 2 | a0001c0001t0001g0043 a0001c0001t0001g0044 |
2 | HG02809.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.3103+12098A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63008864 | |||||||
| chr2:63009996 | A | G | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.3103+13230A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63009996 | |||||||
| chr2:63010046 | G | A | 1 | a0001c0001t0001g0196 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.3103+13280G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63010046 | |||||||
| chr2:63010602 | A | G | 1 | a0001c0001t0001g0031 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.3103+13836A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63010602 | |||||||
| chr2:63010944 | G | A | 1 | a0002c0002t0001g0125 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.3103+14178G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63010944 | |||||||
| chr2:63011211 | G | C | 16 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(13): Show |
16 | HG00099.hp1 HG00639.hp1 HG00738.hp1 others(13): Show |
intron_variant | MODIFIER | c.3103+14445G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63011211 | |||||||
| chr2:63011501 | A | C | 1 | a0001c0001t0001g0194 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.3103+14735A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63011501 | |||||||
| chr2:63011542 | T | G | 4 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show |
4 | HG02258.hp2 HG02717.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.3103+14776T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63011542 | |||||||
| chr2:63011576 | C | T | 1 | a0001c0001t0001g0161 | 1 | NA18972.hp2 | intron_variant | MODIFIER | c.3103+14810C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63011576 | |||||||
| chr2:63012021 | A | G | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.3103+15255A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63012021 | |||||||
| chr2:63012031 | T | A | 1 | a0001c0001t0001g0025 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.3103+15265T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63012031 | |||||||
| chr2:63012033 | T | C | 10 | a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 others(7): Show |
10 | HG01243.hp1 HG01257.hp2 HG01258.hp2 others(7): Show |
intron_variant | MODIFIER | c.3103+15267T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63012033 | |||||||
| chr2:63012829 | A | G | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.3103+16063A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63012829 | |||||||
| chr2:63013443 | G | A | 1 | a0001c0001t0001g0157 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.3103+16677G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63013443 | |||||||
| chr2:63013802 | A | G | 1 | a0001c0001t0001g0184 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.3103+17036A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63013802 | |||||||
| chr2:63014195 | A | G | 1 | a0001c0001t0001g0184 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.3103+17429A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63014195 | |||||||
| chr2:63014292 | G | A | 1 | a0001c0001t0001g0144 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.3103+17526G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63014292 | |||||||
| chr2:63014702 | G | T | 1 | a0001c0001t0002g0099 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.3103+17936G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63014702 | |||||||
| chr2:63014867 | A | G | 6 | a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0085 others(3): Show |
6 | HG02015.hp2 HG02071.hp2 HG02135.hp2 others(3): Show |
intron_variant | MODIFIER | c.3103+18101A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63014867 | |||||||
| chr2:63015633 | C | T | 2 | a0001c0004t0003g0114 a0001c0004t0003g0115 |
2 | HG02280.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.3103+18867C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63015633 | |||||||
| chr2:63015952 | G | A | 2 | a0002c0002t0001g0009 a0002c0002t0001g0010 |
2 | HG03490.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.3103+19186G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63015952 | |||||||
| chr2:63016499 | C | T | 1 | a0002c0002t0001g0195 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.3103+19733C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63016499 | |||||||
| chr2:63016560 | A | T | 13 | a0001c0001t0001g0122 a0002c0002t0001g0004 a0002c0002t0001g0005 others(10): Show |
13 | HG00438.hp1 HG01123.hp1 HG01361.hp2 others(10): Show |
intron_variant | MODIFIER | c.3103+19794A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63016560 | |||||||
| chr2:63016566 | G | T | 1 | a0001c0001t0001g0129 | 1 | NA18999.hp1 | intron_variant | MODIFIER | c.3103+19800G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63016566 | |||||||
| chr2:63016751 | A | T | 1 | a0001c0001t0001g0174 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.3103+19985A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63016751 | |||||||
| chr2:63016795 | G | A | 1 | a0001c0001t0001g0044 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.3103+20029G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63016795 | |||||||
| chr2:63016870 | A | G | 1 | a0002c0002t0001g0195 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.3103+20104A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63016870 | |||||||
| chr2:63017042 | G | A | 2 | a0001c0001t0001g0184 a0001c0001t0001g0198 |
2 | HG02622.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.3103+20276G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63017042 | |||||||
| chr2:63017084 | C | G | 1 | a0001c0006t0001g0160 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.3103+20318C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63017084 | |||||||
| chr2:63017117 | A | G | 2 | a0001c0001t0001g0108 a0001c0001t0001g0157 |
2 | HG02155.hp1 NA18963.hp1 |
intron_variant | MODIFIER | c.3103+20351A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63017117 | |||||||
| chr2:63018080 | G | T | 1 | a0001c0001t0001g0074 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.3104-19455G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63018080 | |||||||
| chr2:63018163 | T | C | 2 | a0001c0001t0001g0025 a0001c0001t0001g0031 |
2 | HG01074.hp1 HG02258.hp1 |
intron_variant | MODIFIER | c.3104-19372T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63018163 | |||||||
| chr2:63018240 | A | G | 2 | a0001c0001t0001g0057 a0001c0001t0001g0183 |
2 | HG02109.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.3104-19295A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63018240 | |||||||
| chr2:63019731 | AAGGGAAG others(8): Show |
A | 1 | a0001c0001t0001g0025 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.3104-17784_3104-17 others(21): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63019731 | ||||||
| chr2:63019771 | G | C | 2 | a0001c0004t0003g0114 a0001c0004t0003g0115 |
2 | HG02280.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.3104-17764G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63019771 | |||||||
| chr2:63019807 | G | A | 1 | a0001c0001t0001g0061 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.3104-17728G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63019807 | |||||||
| chr2:63019825 | G | GGGGA | 6 | a0001c0001t0001g0043 a0001c0001t0001g0069 a0001c0001t0001g0072 others(3): Show |
6 | HG00642.hp1 HG01515.hp2 HG02735.hp2 others(3): Show |
intron_variant | MODIFIER | c.3104-17705_3104-17 others(10): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63019825 | ||||||
| chr2:63019826 | G | A | 1 | a0001c0001t0001g0133 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.3104-17709G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63019826 | |||||||
| chr2:63019830 | G | A | 2 | a0001c0001t0001g0133 a0001c0003t0001g0187 |
2 | HG02559.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.3104-17705G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63019830 | |||||||
| chr2:63019830 | G | GGGAA | 10 | a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0192 others(7): Show |
10 | HG00099.hp2 HG01074.hp1 HG02015.hp2 others(7): Show |
intron_variant | MODIFIER | c.3104-17644_3104-17 others(10): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63019830 | ||||||
| chr2:63019830 | G | GGGAAGGA others(1): Show |
9 | a0001c0001t0001g0025 a0001c0001t0001g0038 a0001c0001t0002g0082 others(6): Show |
9 | HG00544.hp2 HG00558.hp1 HG01515.hp1 others(6): Show |
intron_variant | MODIFIER | c.3104-17648_3104-17 others(14): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63019830 | ||||||
| chr2:63019830 | G | GGGAGGGA others(1): Show |
16 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(13): Show |
16 | HG00099.hp1 HG00558.hp2 HG01256.hp1 others(13): Show |
intron_variant | MODIFIER | c.3104-17702_3104-17 others(14): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63019830 | ||||||
| chr2:63019830 | G | GGGAGGGA others(5): Show |
14 | a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0020 others(11): Show |
14 | HG00544.hp1 HG01175.hp2 HG01884.hp2 others(11): Show |
intron_variant | MODIFIER | c.3104-17702_3104-17 others(18): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63019830 | ||||||
| chr2:63019830 | G | GGGAGGGA others(9): Show |
12 | a0001c0001t0001g0127 a0001c0001t0001g0149 a0001c0001t0001g0152 others(9): Show |
12 | HG01070.hp2 HG01071.hp1 HG01261.hp2 others(9): Show |
intron_variant | MODIFIER | c.3104-17702_3104-17 others(22): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63019830 | ||||||
| chr2:63019830 | G | GGGAGGGA others(13): Show |
14 | a0001c0001t0001g0044 a0001c0001t0001g0057 a0001c0001t0001g0075 others(11): Show |
14 | HG00621.hp1 HG00639.hp1 HG01257.hp1 others(11): Show |
intron_variant | MODIFIER | c.3104-17702_3104-17 others(26): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63019830 | ||||||
| chr2:63019830 | G | GGGAGGGA others(17): Show |
6 | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0134 others(3): Show |
6 | HG00280.hp1 HG00738.hp1 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.3104-17702_3104-17 others(30): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63019830 | ||||||
| chr2:63019830 | G | GGGAGGGA others(21): Show |
2 | a0001c0001t0001g0108 a0001c0001t0001g0126 |
2 | HG02735.hp1 NA18963.hp1 |
intron_variant | MODIFIER | c.3104-17702_3104-17 others(34): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63019830 | ||||||
| chr2:63019830 | G | GGGAGGGA others(25): Show |
3 | a0001c0001t0001g0156 a0001c0001t0001g0170 a0001c0001t0001g0173 |
3 | HG03491.hp1 HG03710.hp2 NA18962.hp2 |
intron_variant | MODIFIER | c.3104-17702_3104-17 others(38): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63019830 | ||||||
| chr2:63019830 | GGGAA | G | 27 | a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0032 others(24): Show |
27 | HG00280.hp2 HG00621.hp2 HG00738.hp2 others(24): Show |
intron_variant | MODIFIER | c.3104-17644_3104-17 others(10): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63019830 | ||||||
| chr2:63019830 | GGGAAGGA others(1): Show |
G | 19 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(16): Show |
19 | HG01123.hp2 HG01167.hp1 HG01175.hp1 others(16): Show |
intron_variant | MODIFIER | c.3104-17648_3104-17 others(14): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63019830 | ||||||
| chr2:63019830 | GGGAAGGA others(5): Show |
G | 19 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 others(16): Show |
19 | HG00438.hp1 HG00639.hp2 HG00642.hp2 others(16): Show |
intron_variant | MODIFIER | c.3104-17652_3104-17 others(18): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63019830 | ||||||
| chr2:63019830 | GGGAAGGA others(9): Show |
G | 4 | a0001c0001t0001g0063 a0001c0001t0001g0067 a0002c0002t0001g0013 others(1): Show |
4 | HG01123.hp1 HG01496.hp2 HG02109.hp2 others(1): Show |
intron_variant | MODIFIER | c.3104-17656_3104-17 others(22): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63019830 | ||||||
| chr2:63019830 | GGGAAGGA others(21): Show |
G | 1 | a0001c0001t0005g0066 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.3104-17668_3104-17 others(34): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63019830 | ||||||
| chr2:63019834 | A | G | 3 | a0001c0001t0001g0136 a0001c0001t0001g0158 a0001c0001t0001g0184 |
3 | HG02145.hp2 NA18906.hp2 NA18992.hp1 |
intron_variant | MODIFIER | c.3104-17701A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63019834 | |||||||
| chr2:63019838 | A | G | 5 | a0001c0001t0001g0128 a0001c0001t0001g0137 a0001c0001t0001g0177 others(2): Show |
5 | HG01074.hp2 HG01243.hp2 HG02015.hp1 others(2): Show |
intron_variant | MODIFIER | c.3104-17697A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63019838 | |||||||
| chr2:63019842 | A | G | 9 | a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0122 others(6): Show |
9 | HG01123.hp2 HG01167.hp1 HG02293.hp2 others(6): Show |
intron_variant | MODIFIER | c.3104-17693A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63019842 | |||||||
| chr2:63019846 | A | G | 11 | a0001c0001t0001g0129 a0001c0001t0001g0182 a0002c0002t0001g0005 others(8): Show |
11 | HG00438.hp1 HG00642.hp2 HG01361.hp2 others(8): Show |
intron_variant | MODIFIER | c.3104-17689A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63019846 | |||||||
| chr2:63019850 | A | G | 2 | a0002c0002t0001g0013 a0002c0002t0001g0014 |
2 | HG01123.hp1 HG01496.hp2 |
intron_variant | MODIFIER | c.3104-17685A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63019850 | |||||||
| chr2:63019892 | G | GAAGGAAG others(18): Show |
1 | a0001c0001t0001g0136 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.3104-17641_3104-17 others(31): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63019892 | ||||||
| chr2:63019964 | G | A | 1 | a0001c0001t0001g0006 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.3104-17571G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63019964 | |||||||
| chr2:63020047 | C | T | 1 | a0001c0001t0001g0116 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.3104-17488C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63020047 | |||||||
| chr2:63020111 | G | A | 2 | a0001c0004t0003g0114 a0001c0004t0003g0115 |
2 | HG02280.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.3104-17424G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63020111 | |||||||
| chr2:63020323 | C | CA | 22 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0039 others(19): Show |
22 | HG00438.hp1 HG00438.hp2 HG01175.hp1 others(19): Show |
intron_variant | MODIFIER | c.3104-17189dupA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63020323 | ||||||
| chr2:63020323 | CA | C | 13 | a0001c0001t0001g0038 a0001c0001t0001g0077 a0001c0001t0001g0078 others(10): Show |
13 | HG01123.hp1 HG01123.hp2 HG01167.hp1 others(10): Show |
intron_variant | MODIFIER | c.3104-17189delA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63020323 | ||||||
| chr2:63020335 | A | G | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.3104-17200A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63020335 | |||||||
| chr2:63020341 | A | G | 1 | a0001c0001t0001g0116 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.3104-17194A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63020341 | |||||||
| chr2:63020502 | CA | C | 6 | a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 others(3): Show |
6 | HG00438.hp1 HG02145.hp2 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.3104-17021delA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63020502 | ||||||
| chr2:63020508 | AAAAAAAG others(4): Show |
A | 13 | a0001c0001t0001g0015 a0001c0001t0001g0045 a0001c0001t0001g0046 others(10): Show |
13 | HG00438.hp2 HG00621.hp2 HG02165.hp1 others(10): Show |
intron_variant | MODIFIER | c.3104-17011_3104-17 others(17): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63020508 | ||||||
| chr2:63020703 | G | A | 3 | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0165 |
3 | HG01261.hp2 HG01515.hp2 HG02300.hp2 |
intron_variant | MODIFIER | c.3104-16832G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63020703 | |||||||
| chr2:63020980 | A | AT | 90 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0016 others(87): Show |
90 | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(87): Show |
intron_variant | MODIFIER | c.3104-16529dupT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63020980 | ||||||
| chr2:63020980 | A | ATT | 33 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0025 others(30): Show |
33 | HG00621.hp1 HG00639.hp1 HG00642.hp2 others(30): Show |
intron_variant | MODIFIER | c.3104-16530_3104-16 others(8): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63020980 | ||||||
| chr2:63020980 | A | ATTT | 6 | a0001c0001t0001g0136 a0002c0002t0001g0005 a0002c0002t0001g0011 others(3): Show |
6 | HG00438.hp1 HG01243.hp2 HG01361.hp2 others(3): Show |
intron_variant | MODIFIER | c.3104-16531_3104-16 others(9): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63020980 | ||||||
| chr2:63021101 | A | G | 4 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show |
4 | HG02258.hp2 HG02717.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.3104-16434A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63021101 | |||||||
| chr2:63021156 | A | G | 1 | a0001c0001t0001g0007 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.3104-16379A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63021156 | |||||||
| chr2:63021269 | A | G | 4 | a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0067 others(1): Show |
4 | HG02109.hp2 HG02280.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.3104-16266A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63021269 | |||||||
| chr2:63021785 | A | T | 1 | a0001c0001t0001g0174 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.3104-15750A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63021785 | |||||||
| chr2:63021829 | C | G | 1 | a0001c0004t0001g0118 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.3104-15706C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63021829 | |||||||
| chr2:63021833 | A | C | 120 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(117): Show |
120 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(117): Show |
intron_variant | MODIFIER | c.3104-15702A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63021833 | |||||||
| chr2:63022001 | C | T | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.3104-15534C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63022001 | |||||||
| chr2:63022130 | C | T | 12 | a0001c0001t0001g0122 a0002c0002t0001g0004 a0002c0002t0001g0005 others(9): Show |
12 | HG00438.hp1 HG01123.hp1 HG01361.hp2 others(9): Show |
intron_variant | MODIFIER | c.3104-15405C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63022130 | |||||||
| chr2:63022353 | C | T | 1 | a0001c0001t0001g0154 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.3104-15182C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63022353 | |||||||
| chr2:63022379 | A | G | 1 | a0001c0008t0001g0076 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.3104-15156A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63022379 | |||||||
| chr2:63022911 | C | T | 2 | a0001c0001t0001g0162 a0002c0002t0001g0013 |
2 | HG01123.hp1 NA18989.hp1 |
intron_variant | MODIFIER | c.3104-14624C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63022911 | |||||||
| chr2:63023190 | T | C | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.3104-14345T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63023190 | |||||||
| chr2:63023690 | G | A | 143 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(140): Show |
143 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(140): Show |
intron_variant | MODIFIER | c.3104-13845G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63023690 | |||||||
| chr2:63023886 | C | T | 4 | a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 others(1): Show |
4 | HG01884.hp2 HG02818.hp1 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.3104-13649C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63023886 | |||||||
| chr2:63024001 | A | G | 1 | a0001c0001t0001g0043 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.3104-13534A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63024001 | |||||||
| chr2:63024086 | C | T | 2 | a0001c0001t0001g0152 a0001c0001t0001g0153 |
2 | HG02040.hp2 NA19010.hp1 |
intron_variant | MODIFIER | c.3104-13449C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63024086 | |||||||
| chr2:63024293 | A | C | 1 | a0001c0001t0001g0033 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.3104-13242A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63024293 | |||||||
| chr2:63024312 | G | C | 1 | a0001c0001t0002g0091 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.3104-13223G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63024312 | |||||||
| chr2:63024314 | C | A | 1 | a0001c0001t0002g0091 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.3104-13221C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63024314 | |||||||
| chr2:63024601 | C | CA | 32 | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 others(29): Show |
32 | HG00099.hp2 HG00280.hp2 HG00642.hp2 others(29): Show |
intron_variant | MODIFIER | c.3104-12912dupA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63024601 | ||||||
| chr2:63024601 | C | CAA | 6 | a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0042 others(3): Show |
6 | HG02280.hp1 HG02293.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.3104-12913_3104-12 others(8): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63024601 | ||||||
| chr2:63024601 | CA | C | 78 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(75): Show |
78 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(75): Show |
intron_variant | MODIFIER | c.3104-12912delA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63024601 | ||||||
| chr2:63024601 | CAA | C | 15 | a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0001g0070 others(12): Show |
15 | HG00544.hp1 HG00642.hp1 HG01261.hp2 others(12): Show |
intron_variant | MODIFIER | c.3104-12913_3104-12 others(8): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63024601 | ||||||
| chr2:63024997 | G | GA | 6 | a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0034 others(3): Show |
6 | HG01981.hp2 HG03017.hp1 HG03239.hp1 others(3): Show |
intron_variant | MODIFIER | c.3104-12526dupA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63024997 | ||||||
| chr2:63025199 | A | G | 1 | a0001c0001t0001g0078 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.3104-12336A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63025199 | |||||||
| chr2:63025336 | G | A | 2 | a0001c0001t0001g0035 a0001c0001t0001g0036 |
2 | HG01884.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.3104-12199G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63025336 | |||||||
| chr2:63025490 | T | G | 1 | a0001c0001t0002g0037 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.3104-12045T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63025490 | |||||||
| chr2:63025516 | G | A | 1 | a0002c0002t0001g0005 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.3104-12019G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63025516 | |||||||
| chr2:63026081 | A | G | 1 | a0001c0001t0001g0044 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.3104-11454A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63026081 | |||||||
| chr2:63026093 | C | G | 4 | a0001c0001t0001g0075 a0001c0001t0001g0161 a0003c0005t0001g0163 others(1): Show |
4 | HG01070.hp2 HG01071.hp1 HG01261.hp1 others(1): Show |
intron_variant | MODIFIER | c.3104-11442C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63026093 | |||||||
| chr2:63026243 | A | G | 2 | a0001c0001t0001g0057 a0001c0001t0001g0183 |
2 | HG02109.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.3104-11292A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63026243 | |||||||
| chr2:63026294 | T | TTG | 35 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 others(32): Show |
35 | HG00280.hp2 HG01070.hp1 HG01123.hp1 others(32): Show |
intron_variant | MODIFIER | c.3104-11191_3104-11 others(8): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63026294 | ||||||
| chr2:63026294 | T | TTGTG | 13 | a0001c0001t0001g0019 a0001c0001t0001g0041 a0001c0001t0001g0047 others(10): Show |
13 | HG00544.hp2 HG00639.hp2 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.3104-11193_3104-11 others(10): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63026294 | ||||||
| chr2:63026294 | T | TTGTGTG | 13 | a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0050 others(10): Show |
13 | HG00438.hp2 HG00621.hp2 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.3104-11195_3104-11 others(12): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63026294 | ||||||
| chr2:63026294 | T | TTGTGTGT others(1): Show |
9 | a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0084 others(6): Show |
9 | HG01071.hp2 HG02145.hp1 HG02300.hp1 others(6): Show |
intron_variant | MODIFIER | c.3104-11197_3104-11 others(14): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63026294 | ||||||
| chr2:63026294 | T | TTGTGTGT others(3): Show |
2 | a0001c0001t0002g0101 a0001c0001t0002g0102 |
2 | HG00558.hp1 HG02155.hp2 |
intron_variant | MODIFIER | c.3104-11199_3104-11 others(16): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63026294 | ||||||
| chr2:63026294 | T | TTGTGTGT others(5): Show |
2 | a0001c0001t0001g0051 a0001c0001t0002g0081 |
2 | NA18951.hp1 NA19057.hp2 |
intron_variant | MODIFIER | c.3104-11201_3104-11 others(18): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63026294 | ||||||
| chr2:63026294 | T | TTGTGTGT others(7): Show |
1 | a0001c0001t0002g0037 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.3104-11203_3104-11 others(20): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63026294 | ||||||
| chr2:63026294 | TTG | T | 13 | a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0001t0001g0054 others(10): Show |
13 | HG00438.hp1 HG01074.hp1 HG01346.hp1 others(10): Show |
intron_variant | MODIFIER | c.3104-11191_3104-11 others(8): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63026294 | ||||||
| chr2:63026294 | TTGTG | T | 43 | a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0018 others(40): Show |
43 | HG00280.hp1 HG00558.hp2 HG00621.hp1 others(40): Show |
intron_variant | MODIFIER | c.3104-11193_3104-11 others(10): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63026294 | ||||||
| chr2:63026294 | TTGTGTG | T | 26 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(23): Show |
26 | HG00099.hp1 HG00639.hp1 HG01070.hp2 others(23): Show |
intron_variant | MODIFIER | c.3104-11195_3104-11 others(12): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63026294 | ||||||
| chr2:63026294 | TTGTGTGT others(1): Show |
T | 2 | a0001c0001t0001g0161 a0001c0003t0001g0189 |
2 | HG02717.hp2 NA18972.hp2 |
intron_variant | MODIFIER | c.3104-11197_3104-11 others(14): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63026294 | ||||||
| chr2:63026294 | TTGTGTGT others(3): Show |
T | 4 | a0001c0001t0001g0044 a0001c0001t0001g0126 a0001c0006t0001g0160 others(1): Show |
4 | HG00738.hp1 HG02735.hp1 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.3104-11199_3104-11 others(16): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63026294 | ||||||
| chr2:63026294 | TTGTGTGT others(5): Show |
T | 1 | a0001c0001t0001g0185 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.3104-11201_3104-11 others(18): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63026294 | ||||||
| chr2:63026294 | TTGTGTGT others(11): Show |
T | 1 | a0001c0001t0001g0079 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.3104-11207_3104-11 others(24): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63026294 | ||||||
| chr2:63026294 | TTGTGTGT others(13): Show |
T | 1 | a0001c0001t0001g0061 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.3104-11209_3104-11 others(26): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63026294 | ||||||
| chr2:63026450 | A | C | 1 | a0001c0001t0001g0016 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.3104-11085A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63026450 | |||||||
| chr2:63026459 | A | T | 38 | a0001c0001t0002g0037 a0001c0001t0002g0080 a0001c0001t0002g0081 others(35): Show |
38 | HG00544.hp2 HG00558.hp1 HG00639.hp2 others(35): Show |
intron_variant | MODIFIER | c.3104-11076A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63026459 | |||||||
| chr2:63026470 | T | A | 2 | a0001c0004t0001g0118 a0001c0004t0001g0121 |
2 | HG01167.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.3104-11065T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63026470 | |||||||
| chr2:63026751 | A | T | 1 | a0001c0001t0001g0156 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.3104-10784A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63026751 | |||||||
| chr2:63026921 | A | C | 2 | a0001c0001t0002g0090 a0001c0001t0002g0096 |
2 | HG00639.hp2 HG02698.hp1 |
intron_variant | MODIFIER | c.3104-10614A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63026921 | |||||||
| chr2:63027108 | T | C | 1 | a0001c0001t0001g0031 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.3104-10427T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63027108 | |||||||
| chr2:63027614 | A | G | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.3104-9921A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63027614 | |||||||
| chr2:63027654 | A | G | 1 | a0001c0001t0001g0184 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.3104-9881A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63027654 | |||||||
| chr2:63027738 | CTTATAT | C | 2 | a0002c0002t0001g0009 a0002c0002t0001g0010 |
2 | HG03490.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.3104-9791_3104-978 others(10): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63027738 | ||||||
| chr2:63028043 | G | A | 2 | a0001c0001t0001g0035 a0001c0001t0001g0036 |
2 | HG01884.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.3104-9492G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63028043 | |||||||
| chr2:63028349 | A | G | 4 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0185 others(1): Show |
4 | HG01243.hp2 HG02886.hp2 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.3104-9186A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63028349 | |||||||
| chr2:63028483 | T | C | 1 | a0001c0001t0001g0042 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.3104-9052T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63028483 | |||||||
| chr2:63029510 | G | A | 1 | a0001c0001t0001g0153 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.3104-8025G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63029510 | |||||||
| chr2:63029643 | A | G | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.3104-7892A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63029643 | |||||||
| chr2:63030048 | G | T | 13 | a0001c0001t0001g0122 a0001c0001t0001g0194 a0002c0002t0001g0004 others(10): Show |
13 | HG00438.hp1 HG01074.hp2 HG01123.hp1 others(10): Show |
intron_variant | MODIFIER | c.3104-7487G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63030048 | |||||||
| chr2:63030278 | G | A | 2 | a0001c0001t0001g0024 a0001c0001t0001g0039 |
2 | HG01175.hp1 HG01256.hp2 |
intron_variant | MODIFIER | c.3104-7257G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63030278 | |||||||
| chr2:63030292 | C | A | 10 | a0001c0001t0001g0019 a0001c0001t0001g0061 a0001c0001t0001g0062 others(7): Show |
10 | HG02109.hp2 HG02280.hp1 HG02559.hp2 others(7): Show |
intron_variant | MODIFIER | c.3104-7243C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63030292 | |||||||
| chr2:63030408 | T | TAC | 16 | a0001c0001t0001g0028 a0001c0001t0001g0048 a0001c0001t0001g0058 others(13): Show |
16 | HG00642.hp2 HG01123.hp2 HG01167.hp1 others(13): Show |
intron_variant | MODIFIER | c.3104-7107_3104-710 others(6): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63030408 | ||||||
| chr2:63030410 | C | T | 1 | a0001c0001t0001g0198 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.3104-7125C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63030410 | |||||||
| chr2:63030628 | C | T | 1 | a0001c0001t0001g0044 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.3104-6907C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63030628 | |||||||
| chr2:63030632 | C | T | 1 | a0001c0001t0001g0042 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.3104-6903C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63030632 | |||||||
| chr2:63030681 | C | T | 1 | a0001c0001t0001g0124 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.3104-6854C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63030681 | |||||||
| chr2:63030734 | G | C | 1 | a0001c0001t0001g0079 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.3104-6801G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63030734 | |||||||
| chr2:63030789 | C | CT | 39 | a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0027 others(36): Show |
39 | HG00099.hp2 HG00438.hp2 HG00544.hp1 others(36): Show |
intron_variant | MODIFIER | c.3104-6722dupT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63030789 | ||||||
| chr2:63030789 | C | CTT | 5 | a0001c0001t0001g0034 a0001c0001t0001g0119 a0001c0001t0001g0120 others(2): Show |
5 | HG00544.hp2 HG02922.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.3104-6723_3104-672 others(6): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63030789 | ||||||
| chr2:63030789 | CT | C | 6 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(3): Show |
6 | HG01256.hp1 HG01257.hp1 HG01258.hp1 others(3): Show |
intron_variant | MODIFIER | c.3104-6722delT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63030789 | ||||||
| chr2:63030789 | CTTTTTTT others(6): Show |
C | 1 | a0001c0001t0001g0177 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.3104-6734_3104-672 others(17): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63030789 | ||||||
| chr2:63030953 | A | G | 2 | a0001c0001t0001g0185 a0004c0009t0001g0197 |
2 | HG01243.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.3104-6582A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63030953 | |||||||
| chr2:63031063 | C | A | 1 | a0001c0001t0001g0064 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.3104-6472C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63031063 | |||||||
| chr2:63032291 | G | C | 1 | a0001c0001t0001g0043 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.3104-5244G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63032291 | |||||||
| chr2:63032296 | C | T | 1 | a0002c0002t0001g0013 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.3104-5239C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63032296 | |||||||
| chr2:63032366 | A | G | 1 | a0001c0001t0001g0153 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.3104-5169A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63032366 | |||||||
| chr2:63032566 | C | CA | 41 | a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0026 others(38): Show |
41 | HG00099.hp2 HG00280.hp2 HG00438.hp1 others(38): Show |
intron_variant | MODIFIER | c.3104-4943dupA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | 63032566 | ||||||
| chr2:63032739 | C | A | 2 | a0001c0001t0001g0035 a0001c0001t0001g0036 |
2 | HG01884.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.3104-4796C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63032739 | |||||||
| chr2:63032746 | C | T | 110 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(107): Show |
110 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(107): Show |
intron_variant | MODIFIER | c.3104-4789C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63032746 | |||||||
| chr2:63033261 | T | A | 1 | a0001c0001t0001g0154 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.3104-4274T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63033261 | |||||||
| chr2:63033292 | G | T | 2 | a0001c0001t0001g0016 a0001c0001t0001g0017 |
2 | HG03195.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.3104-4243G>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63033292 | |||||||
| chr2:63033613 | C | G | 2 | a0001c0001t0001g0062 a0001c0001t0001g0065 |
2 | HG03139.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.3104-3922C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63033613 | |||||||
| chr2:63033829 | C | G | 7 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(4): Show |
7 | HG02109.hp2 HG02280.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.3104-3706C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63033829 | |||||||
| chr2:63033874 | G | A | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.3104-3661G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63033874 | |||||||
| chr2:63035426 | C | T | 1 | a0001c0001t0001g0043 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.3104-2109C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63035426 | |||||||
| chr2:63035568 | C | T | 2 | a0001c0001t0001g0171 a0001c0001t0001g0172 |
2 | HG01346.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.3104-1967C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63035568 | |||||||
| chr2:63035601 | G | A | 2 | a0001c0001t0001g0139 a0001c0001t0001g0142 |
2 | HG01257.hp1 HG03017.hp2 |
intron_variant | MODIFIER | c.3104-1934G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63035601 | |||||||
| chr2:63035735 | T | A | 2 | a0001c0001t0001g0171 a0001c0001t0001g0172 |
2 | HG01346.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.3104-1800T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63035735 | |||||||
| chr2:63036193 | A | G | 2 | a0001c0001t0001g0035 a0001c0001t0001g0036 |
2 | HG01884.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.3104-1342A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63036193 | |||||||
| chr2:63036325 | A | G | 1 | a0001c0001t0001g0024 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.3104-1210A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63036325 | |||||||
| chr2:63036343 | T | C | 1 | a0001c0001t0001g0134 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.3104-1192T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63036343 | |||||||
| chr2:63036391 | C | T | 2 | a0001c0001t0001g0057 a0001c0001t0001g0183 |
2 | HG02109.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.3104-1144C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63036391 | |||||||
| chr2:63036462 | G | A | 1 | a0001c0001t0001g0001 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.3104-1073G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63036462 | |||||||
| chr2:63036550 | T | A | 1 | a0001c0001t0001g0027 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.3104-985T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63036550 | |||||||
| chr2:63036796 | A | T | 12 | a0001c0001t0001g0122 a0002c0002t0001g0004 a0002c0002t0001g0005 others(9): Show |
12 | HG00438.hp1 HG01123.hp1 HG01361.hp2 others(9): Show |
intron_variant | MODIFIER | c.3104-739A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63036796 | |||||||
| chr2:63036983 | A | C | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.3104-552A>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63036983 | |||||||
| chr2:63037037 | G | A | 1 | a0001c0001t0001g0116 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.3104-498G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63037037 | |||||||
| chr2:63037491 | G | A | 2 | a0001c0001t0001g0019 a0001c0001t0001g0117 |
2 | HG02818.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.3104-44G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63037491 | |||||||
| chr2:63037933 | A | G | 7 | a0001c0001t0001g0108 a0001c0001t0001g0127 a0001c0001t0001g0156 others(4): Show |
7 | HG00280.hp1 HG02155.hp1 HG03704.hp2 others(4): Show |
intron_variant | MODIFIER | c.3203+299A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 20/22 | chr2 | 63037933 | |||||||
| chr2:63038226 | G | A | 1 | a0001c0001t0001g0056 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.3204-517G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 20/22 | chr2 | 63038226 | |||||||
| chr2:63038245 | C | T | 1 | a0001c0001t0001g0028 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3204-498C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 20/22 | chr2 | 63038245 | |||||||
| chr2:63038581 | G | A | 1 | a0001c0001t0001g0043 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.3204-162G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 20/22 | chr2 | 63038581 | |||||||
| chr2:63038833 | T | G | 2 | a0001c0001t0001g0106 a0001c0001t0001g0162 |
2 | NA18960.hp1 NA18989.hp1 |
intron_variant | MODIFIER | c.3277+17T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | chr2 | 63038833 | |||||||
| chr2:63038946 | G | A | 1 | a0002c0002t0001g0195 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.3277+130G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | chr2 | 63038946 | |||||||
| chr2:63038994 | A | G | 1 | a0001c0001t0002g0110 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.3277+178A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | chr2 | 63038994 | |||||||
| chr2:63039064 | A | G | 1 | a0004c0009t0001g0197 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.3277+248A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | chr2 | 63039064 | |||||||
| chr2:63039276 | G | A | 2 | a0001c0001t0001g0019 a0001c0001t0001g0117 |
2 | HG02818.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.3277+460G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | chr2 | 63039276 | |||||||
| chr2:63039308 | TA | T | 2 | a0001c0001t0002g0176 a0001c0007t0002g0097 |
2 | HG01070.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.3277+495delA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | 63039308 | ||||||
| chr2:63039487 | T | C | 1 | a0001c0001t0001g0166 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.3277+671T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | chr2 | 63039487 | |||||||
| chr2:63041220 | T | C | 48 | a0001c0001t0001g0006 a0001c0001t0001g0044 a0001c0001t0001g0058 others(45): Show |
48 | HG00280.hp1 HG00544.hp1 HG00558.hp2 others(45): Show |
intron_variant | MODIFIER | c.3277+2404T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | chr2 | 63041220 | |||||||
| chr2:63041315 | C | G | 2 | a0001c0001t0001g0171 a0001c0001t0001g0172 |
2 | HG01346.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.3277+2499C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | chr2 | 63041315 | |||||||
| chr2:63041496 | C | T | 1 | a0002c0002t0001g0004 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.3277+2680C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | chr2 | 63041496 | |||||||
| chr2:63042131 | C | G | 1 | a0001c0001t0001g0070 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.3278-2935C>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | chr2 | 63042131 | |||||||
| chr2:63042184 | CA | C | 2 | a0001c0001t0001g0019 a0001c0001t0001g0117 |
2 | HG02818.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.3278-2881delA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | chr2 | 63042184 | |||||||
| chr2:63042467 | T | C | 1 | a0001c0001t0001g0052 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.3278-2599T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | chr2 | 63042467 | |||||||
| chr2:63042469 | T | C | 98 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(95): Show |
98 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(95): Show |
intron_variant | MODIFIER | c.3278-2597T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | chr2 | 63042469 | |||||||
| chr2:63043058 | T | G | 1 | a0001c0001t0001g0044 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.3278-2008T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | chr2 | 63043058 | |||||||
| chr2:63043088 | A | G | 1 | a0001c0001t0001g0198 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.3278-1978A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | chr2 | 63043088 | |||||||
| chr2:63043598 | A | G | 1 | a0001c0001t0001g0056 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.3278-1468A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | chr2 | 63043598 | |||||||
| chr2:63043686 | G | A | 1 | a0001c0001t0001g0181 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.3278-1380G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | chr2 | 63043686 | |||||||
| chr2:63043920 | C | CT | 14 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(11): Show |
14 | HG00639.hp1 HG01071.hp1 HG01243.hp2 others(11): Show |
intron_variant | MODIFIER | c.3278-1095dupT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | 63043920 | ||||||
| chr2:63043920 | C | CTT | 20 | a0001c0001t0001g0021 a0001c0001t0001g0035 a0001c0001t0001g0038 others(17): Show |
20 | HG00738.hp1 HG01167.hp1 HG01175.hp1 others(17): Show |
intron_variant | MODIFIER | c.3278-1096_3278-109 others(6): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | 63043920 | ||||||
| chr2:63043920 | C | CTTT | 13 | a0001c0001t0001g0057 a0001c0001t0001g0178 a0001c0001t0001g0179 others(10): Show |
13 | HG00544.hp2 HG01123.hp2 HG02109.hp1 others(10): Show |
intron_variant | MODIFIER | c.3278-1097_3278-109 others(7): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | 63043920 | ||||||
| chr2:63043920 | C | CTTTT | 9 | a0001c0001t0001g0055 a0001c0001t0001g0120 a0001c0001t0001g0171 others(6): Show |
9 | HG01346.hp1 HG02040.hp1 HG02698.hp1 others(6): Show |
intron_variant | MODIFIER | c.3278-1098_3278-109 others(8): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | 63043920 | ||||||
| chr2:63043920 | C | CTTTTT | 6 | a0001c0001t0001g0169 a0001c0001t0001g0192 a0001c0001t0002g0088 others(3): Show |
6 | HG00639.hp2 HG01071.hp2 HG01257.hp2 others(3): Show |
intron_variant | MODIFIER | c.3278-1099_3278-109 others(9): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | 63043920 | ||||||
| chr2:63043920 | C | CTTTTTT | 7 | a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0048 others(4): Show |
7 | HG01258.hp2 HG02280.hp1 HG02970.hp2 others(4): Show |
intron_variant | MODIFIER | c.3278-1100_3278-109 others(10): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | 63043920 | ||||||
| chr2:63043920 | C | CTTTTTTT | 8 | a0001c0001t0001g0047 a0001c0001t0002g0080 a0001c0001t0002g0101 others(5): Show |
8 | HG00558.hp1 HG02015.hp2 HG02145.hp1 others(5): Show |
intron_variant | MODIFIER | c.3278-1101_3278-109 others(11): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | 63043920 | ||||||
| chr2:63043920 | C | CTTTTTTT others(1): Show |
6 | a0001c0001t0001g0063 a0001c0001t0001g0134 a0001c0001t0002g0085 others(3): Show |
6 | HG01243.hp1 HG02109.hp2 HG02135.hp2 others(3): Show |
intron_variant | MODIFIER | c.3278-1102_3278-109 others(12): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | 63043920 | ||||||
| chr2:63043920 | C | CTTTTTTT others(3): Show |
1 | a0001c0001t0002g0082 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.3278-1104_3278-109 others(14): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | 63043920 | ||||||
| chr2:63043920 | C | CTTTTTTT others(4): Show |
1 | a0001c0001t0002g0037 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.3278-1105_3278-109 others(15): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | 63043920 | ||||||
| chr2:63043920 | C | CTTTTTTT others(5): Show |
1 | a0001c0001t0002g0083 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.3278-1106_3278-109 others(16): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | 63043920 | ||||||
| chr2:63043920 | C | CTTTTTTT others(12): Show |
1 | a0001c0001t0002g0100 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.3278-1113_3278-109 others(23): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | 63043920 | ||||||
| chr2:63043920 | C | T | 2 | a0001c0001t0001g0019 a0001c0001t0001g0117 |
2 | HG02818.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.3278-1146C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | chr2 | 63043920 | |||||||
| chr2:63043920 | CT | C | 25 | a0001c0001t0001g0007 a0001c0001t0001g0024 a0001c0001t0001g0025 others(22): Show |
25 | HG00099.hp2 HG00642.hp1 HG00738.hp2 others(22): Show |
intron_variant | MODIFIER | c.3278-1095delT | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | 63043920 | ||||||
| chr2:63043920 | CTT | C | 17 | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 others(14): Show |
17 | HG00280.hp2 HG00438.hp2 HG00544.hp1 others(14): Show |
intron_variant | MODIFIER | c.3278-1096_3278-109 others(6): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | 63043920 | ||||||
| chr2:63043920 | CTTT | C | 12 | a0001c0001t0001g0015 a0001c0001t0001g0049 a0001c0001t0001g0051 others(9): Show |
12 | HG00558.hp2 HG00621.hp1 HG02015.hp1 others(9): Show |
intron_variant | MODIFIER | c.3278-1097_3278-109 others(7): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | 63043920 | ||||||
| chr2:63043920 | CTTTTT | C | 9 | a0001c0001t0001g0006 a0001c0001t0001g0140 a0001c0001t0001g0175 others(6): Show |
9 | HG01123.hp1 HG01167.hp2 HG01496.hp2 others(6): Show |
intron_variant | MODIFIER | c.3278-1099_3278-109 others(9): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | 63043920 | ||||||
| chr2:63043920 | CTTTTTT | C | 5 | a0001c0001t0001g0156 a0001c0001t0001g0173 a0002c0002t0001g0011 others(2): Show |
5 | HG01361.hp2 HG02602.hp1 HG03710.hp2 others(2): Show |
intron_variant | MODIFIER | c.3278-1100_3278-109 others(10): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | 63043920 | ||||||
| chr2:63043920 | CTTTTTTT others(1): Show |
C | 7 | a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0122 others(4): Show |
7 | HG00438.hp1 HG01074.hp2 HG02135.hp1 others(4): Show |
intron_variant | MODIFIER | c.3278-1102_3278-109 others(12): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | 63043920 | ||||||
| chr2:63043920 | CTTTTTTT others(3): Show |
C | 1 | a0001c0001t0002g0095 | 1 | NA18989.hp2 | intron_variant | MODIFIER | c.3278-1104_3278-109 others(14): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | 63043920 | ||||||
| chr2:63043920 | CTTTTTTT others(4): Show |
C | 1 | a0001c0007t0002g0097 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.3278-1105_3278-109 others(15): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | 63043920 | ||||||
| chr2:63043920 | CTTTTTTT others(8): Show |
C | 1 | a0001c0001t0002g0094 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.3278-1109_3278-109 others(19): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | 63043920 | ||||||
| chr2:63043920 | CTTTTTTT others(15): Show |
C | 1 | a0001c0001t0002g0110 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.3278-1116_3278-109 others(26): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | 63043920 | ||||||
| chr2:63043920 | CTTTTTTT others(18): Show |
C | 1 | a0001c0001t0002g0176 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.3278-1119_3278-109 others(29): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | 63043920 | ||||||
| chr2:63044082 | G | C | 6 | a0001c0001t0001g0015 a0001c0001t0001g0049 a0001c0001t0001g0050 others(3): Show |
6 | HG00438.hp2 HG00621.hp2 HG02165.hp1 others(3): Show |
intron_variant | MODIFIER | c.3278-984G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | chr2 | 63044082 | |||||||
| chr2:63044261 | C | CA | 29 | a0001c0001t0001g0019 a0001c0001t0001g0038 a0001c0001t0001g0044 others(26): Show |
29 | HG00544.hp1 HG00621.hp1 HG00642.hp1 others(26): Show |
intron_variant | MODIFIER | c.3278-787dupA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | 63044261 | ||||||
| chr2:63044261 | CA | C | 9 | a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0025 others(6): Show |
9 | HG01074.hp1 HG01256.hp1 HG01256.hp2 others(6): Show |
intron_variant | MODIFIER | c.3278-787delA | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | 63044261 | ||||||
| chr2:63044333 | T | C | 1 | a0001c0001t0001g0185 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.3278-733T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | chr2 | 63044333 | |||||||
| chr2:63044555 | T | C | 1 | a0001c0001t0001g0192 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.3278-511T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | chr2 | 63044555 | |||||||
| chr2:63044808 | C | T | 1 | a0001c0001t0001g0198 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.3278-258C>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | chr2 | 63044808 | |||||||
| chr2:63045195 | G | A | 1 | a0001c0008t0001g0076 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.3392+15G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 22/22 | chr2 | 63045195 | |||||||
| chr2:63045233 | GAAGTGTG others(4): Show |
G | 2 | a0002c0002t0001g0005 a0002c0002t0001g0131 |
2 | HG00438.hp1 NA18612.hp2 |
intron_variant | MODIFIER | c.3392+58_3392+68del others(11): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr2 | 63045233 |