Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| 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 | copy fasta | chr2 | 62700713 | 63051487 |
| a0002 | 0/0 | 1160 | 13 | 1 | 3 | 5 | 0 | 4 | 3 | EHBP1_chr2_62700713_63051487 | EHBP1 | copy fasta | chr2 | 62700713 | 63051487 |
| a0003 | 0/0 | 1160 | 2 | 0 | 2 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | copy fasta | chr2 | 62700713 | 63051487 |
| a0004 | 0/0 | 1160 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | copy fasta | chr2 | 62700713 | 63051487 |
| chapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 1/1 | 3483 | 168 | 39 | 31 | 65 | 10 | 21 | EHBP1_chr2_62700713_63051487 | EHBP1 | copy fasta | chr2 | 62700713 | 63051487 |
| c0002 | 0/0 | 3483 | 13 | 1 | 3 | 5 | 0 | 4 | EHBP1_chr2_62700713_63051487 | EHBP1 | copy fasta | chr2 | 62700713 | 63051487 |
| c0003 | 0/0 | 3483 | 6 | 6 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | copy fasta | chr2 | 62700713 | 63051487 |
| c0004 | 0/0 | 3483 | 4 | 3 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | copy fasta | chr2 | 62700713 | 63051487 |
| c0005 | 0/0 | 3483 | 2 | 0 | 2 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | copy fasta | chr2 | 62700713 | 63051487 |
| c0006 | 0/0 | 3483 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | copy fasta | chr2 | 62700713 | 63051487 |
| c0007 | 0/0 | 3483 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | copy fasta | chr2 | 62700713 | 63051487 |
| c0008 | 0/0 | 3483 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | copy fasta | chr2 | 62700713 | 63051487 |
| c0009 | 0/0 | 3483 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | copy fasta | chr2 | 62700713 | 63051487 |
| c0010 | 0/0 | 3483 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | copy fasta | chr2 | 62700713 | 63051487 |
| thapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 1/1 | 1623 | 160 | 46 | 30 | 50 | 9 | 23 | EHBP1_chr2_62700713_63051487 | EHBP1 | copy fasta | chr2 | 62700713 | 63051487 |
| t0002 | 0/0 | 1623 | 34 | 1 | 10 | 19 | 1 | 3 | EHBP1_chr2_62700713_63051487 | EHBP1 | copy fasta | chr2 | 62700713 | 63051487 |
| t0003 | 0/0 | 1623 | 2 | 2 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | copy fasta | chr2 | 62700713 | 63051487 |
| t0004 | 0/0 | 1623 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | copy fasta | chr2 | 62700713 | 63051487 |
| t0005 | 0/0 | 1623 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | copy fasta | chr2 | 62700713 | 63051487 |
| ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0002 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0004 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0009 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0010 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0013 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0022 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0023 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0024 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0026 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0029 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0030 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0032 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0033 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0034 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0037 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0038 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0040 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0042 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0056 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0068 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0069 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0073 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0074 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0075 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0088 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0091 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0096 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0097 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0098 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0099 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0103 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0104 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0105 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0111 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0113 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0118 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0124 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0125 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0126 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0130 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0139 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0142 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0149 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0151 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0155 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0160 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0163 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0165 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0166 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0167 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0169 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0170 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0171 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0172 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0173 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0176 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0178 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0179 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0181 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0182 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0183 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0184 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0185 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0186 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0189 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0190 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0191 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0193 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0194 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0196 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0197 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 3483 | 168 | 39 | 31 | 65 | 10 | 21 | EHBP1_chr2_62700713_63051487 | EHBP1 | copy fasta | chr2 | 62700713 | 63051487 |
| a0001c0003 | 0/0 | 3483 | 6 | 6 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | copy fasta | chr2 | 62700713 | 63051487 |
| a0001c0004 | 0/0 | 3483 | 4 | 3 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | copy fasta | chr2 | 62700713 | 63051487 |
| a0001c0006 | 0/0 | 3483 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | copy fasta | chr2 | 62700713 | 63051487 |
| a0001c0007 | 0/0 | 3483 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | copy fasta | chr2 | 62700713 | 63051487 |
| a0001c0008 | 0/0 | 3483 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | copy fasta | chr2 | 62700713 | 63051487 |
| a0001c0010 | 0/0 | 3483 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | copy fasta | chr2 | 62700713 | 63051487 |
| a0002c0002 | 0/0 | 3483 | 13 | 1 | 3 | 5 | 0 | 4 | EHBP1_chr2_62700713_63051487 | EHBP1 | copy fasta | chr2 | 62700713 | 63051487 |
| a0003c0005 | 0/0 | 3483 | 2 | 0 | 2 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | copy fasta | chr2 | 62700713 | 63051487 |
| a0004c0009 | 0/0 | 3483 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | copy fasta | 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 | copy fasta | chr2 | 62700713 | 63051487 |
| a0001c0001t0002 | 0/0 | 5105 | 33 | 1 | 9 | 19 | 1 | 3 | EHBP1_chr2_62700713_63051487 | EHBP1 | copy fasta | chr2 | 62700713 | 63051487 |
| a0001c0001t0004 | 0/0 | 5105 | 1 | 0 | 0 | 1 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | copy fasta | chr2 | 62700713 | 63051487 |
| a0001c0001t0005 | 0/0 | 5105 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | copy fasta | chr2 | 62700713 | 63051487 |
| a0001c0003t0001 | 0/0 | 5105 | 6 | 6 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | copy fasta | chr2 | 62700713 | 63051487 |
| a0001c0004t0001 | 0/0 | 5105 | 2 | 1 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | copy fasta | chr2 | 62700713 | 63051487 |
| a0001c0004t0003 | 0/0 | 5105 | 2 | 2 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | copy fasta | chr2 | 62700713 | 63051487 |
| a0001c0006t0001 | 0/0 | 5105 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | copy fasta | chr2 | 62700713 | 63051487 |
| a0001c0007t0002 | 0/0 | 5105 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | copy fasta | chr2 | 62700713 | 63051487 |
| a0001c0008t0001 | 0/0 | 5105 | 1 | 1 | 0 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | copy fasta | chr2 | 62700713 | 63051487 |
| a0001c0010t0001 | 0/0 | 5105 | 1 | 0 | 0 | 0 | 0 | 1 | EHBP1_chr2_62700713_63051487 | EHBP1 | copy fasta | chr2 | 62700713 | 63051487 |
| a0002c0002t0001 | 0/0 | 5105 | 13 | 1 | 3 | 5 | 0 | 4 | EHBP1_chr2_62700713_63051487 | EHBP1 | copy fasta | chr2 | 62700713 | 63051487 |
| a0003c0005t0001 | 0/0 | 5105 | 2 | 0 | 2 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | copy fasta | chr2 | 62700713 | 63051487 |
| a0004c0009t0001 | 0/0 | 5105 | 1 | 0 | 1 | 0 | 0 | 0 | EHBP1_chr2_62700713_63051487 | EHBP1 | copy fasta | 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 |
| a0001c0001t0001g0107 | 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 |
| a0001c0001t0002g0108 | 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 | g0107 | 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 | g0108 | 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 | hp1 | a0001 | c0001 | t0001 | g0068 | REF | REF | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| homoSapiens_grch38 | hp1 | a0001 | c0001 | t0001 | g0151 | REF | REF | EHBP1_chr2_62700713_63051487 | EHBP1 | chr2 | 62700713 | 63051487 |
| 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 | a0002a0004 | 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 |
| 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 |
| 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 | a0001c0001t0002a0001c0001t0004a0001c0007t0002 | 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 |
| 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 | a0001c0001t0001g0198a0004c0009t0001g0197 | 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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003 | 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 | a0001c0001t0001g0006a0001c0001t0001g0007a0002c0002t0001g0004others(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 | a0001c0001t0001g0006a0001c0001t0001g0007a0002c0002t0001g0004others(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 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(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 | a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0024others(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 | a0001c0001t0001g0043a0001c0001t0001g0044 | 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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0058a0001c0001t0001g0059a0001c0001t0001g0060 | 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 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(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 | a0001c0003t0001g0186a0001c0003t0001g0187a0001c0003t0001g0188others(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 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(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 | a0001c0001t0001g0198a0004c0009t0001g0197 | 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 | 14 | a0001c0001t0001g0068a0001c0001t0001g0069a0001c0001t0001g0070others(11): Show | 14 | HG00642.hp1 HG01261.hp1 HG01361.hp2 others(11): 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 | a0001c0001t0001g0016a0001c0001t0001g0017 | 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 | a0001c0001t0001g0198a0004c0009t0001g0197 | 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 | a0001c0001t0001g0198a0004c0009t0001g0197 | 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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0198a0004c0009t0001g0197 | 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 | a0001c0001t0001g0198a0004c0009t0001g0197 | 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 | a0001c0001t0001g0098a0001c0001t0001g0122a0001c0001t0001g0124others(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 | a0001c0001t0001g0106a0001c0001t0001g0107a0001c0001t0002g0103others(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 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(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 | a0001c0001t0001g0198a0004c0009t0001g0197 | 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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0004t0003g0114a0001c0004t0003g0115 | 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 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(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 | a0001c0001t0001g0057a0001c0001t0001g0183 | 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 | a0001c0001t0001g0116a0001c0001t0001g0117a0001c0001t0001g0185 | 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 | ||||||
| chr2:62717716
|
T | A | 1 | a0001c0001t0001g0068 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.104+10421T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | chr2 | 62717716 | ||||||
| chr2:62717862
|
T | TA | 2 | a0001c0001t0001g0022a0001c0001t0001g0023 | 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 | a0001c0001t0001g0043a0001c0001t0001g0044 | 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 | a0001c0001t0001g0116a0001c0001t0001g0117a0001c0001t0001g0185 | 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 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(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 | a0001c0001t0001g0198a0004c0009t0001g0197 | 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 | a0001c0001t0001g0058a0001c0001t0002g0080a0001c0001t0002g0081others(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 | a0001c0001t0001g0124a0001c0001t0001g0178a0001c0001t0001g0179 | 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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(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 | a0001c0001t0001g0043a0001c0001t0001g0044 | 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 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0020others(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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(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 | a0001c0001t0001g0198a0004c0009t0001g0197 | 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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(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 | a0001c0001t0001g0116a0001c0001t0001g0117 | 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 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0043a0001c0001t0001g0044 | 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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(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 | a0001c0001t0001g0122a0001c0001t0002g0080 | 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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0128a0001c0001t0001g0129 | 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 | 14 | a0001c0001t0001g0068a0001c0001t0001g0069a0001c0001t0001g0070others(11): Show | 14 | HG00642.hp1 HG01261.hp1 HG01361.hp2 others(11): 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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 |
107 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(104): Show | 107 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(104): 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 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(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 | a0001c0001t0001g0152a0001c0001t0001g0153a0001c0001t0001g0154 | 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 | a0001c0001t0001g0127a0001c0001t0001g0156a0001c0001t0001g0157others(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 | a0001c0001t0001g0198a0004c0009t0001g0197 | 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 | a0001c0001t0001g0018a0001c0001t0001g0019 | 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 | a0001c0001t0001g0043a0001c0001t0001g0044 | 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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0057a0001c0001t0001g0183 | 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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047 | 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 | a0001c0001t0001g0035a0001c0001t0001g0036 | 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 | a0001c0001t0001g0098a0001c0001t0002g0081a0001c0001t0002g0090others(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 | a0001c0001t0001g0122a0001c0001t0002g0082a0001c0001t0002g0083others(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 | a0001c0001t0001g0107a0001c0001t0002g0108a0001c0001t0002g0109 | 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 | a0001c0004t0003g0114a0001c0004t0003g0115 | 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 | a0001c0004t0001g0118a0001c0004t0001g0121 | 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 | a0001c0001t0001g0044a0001c0001t0001g0117 | 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 | a0001c0001t0001g0061a0001c0001t0001g0077 | 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 | a0001c0001t0001g0067a0001c0001t0005g0066 | 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 | a0001c0001t0001g0078a0001c0001t0001g0079 | 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 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0021 | 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 | a0001c0001t0001g0124a0001c0001t0001g0178a0001c0001t0001g0179 | 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 | a0001c0001t0001g0171a0001c0001t0001g0172 | 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 | a0001c0001t0001g0016a0001c0001t0001g0017 | 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 | a0001c0001t0001g0006a0001c0001t0001g0126a0001c0001t0001g0130others(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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(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 | a0001c0001t0001g0161a0001c0001t0001g0162 | 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 | a0001c0001t0001g0181a0001c0001t0001g0194 | 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 | a0001c0001t0001g0128a0001c0001t0001g0129 | 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 |
3 | a0001c0001t0001g0068a0001c0001t0001g0072a0002c0002t0001g0195 | 3 | HG00642.hp1 HG02886.hp1 homoSapiens_chm13v2.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 | a0001c0001t0001g0058a0001c0001t0001g0059a0001c0001t0001g0060others(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 | a0002c0002t0001g0004a0002c0002t0001g0008a0002c0002t0001g0009others(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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0007a0002c0002t0001g0004a0002c0002t0001g0005others(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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(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 | a0001c0001t0001g0058a0001c0001t0001g0059 | 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 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(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 | a0001c0001t0001g0198a0004c0009t0001g0197 | 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 | a0001c0001t0001g0165a0003c0005t0001g0163a0003c0005t0001g0164 | 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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(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 | a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0024others(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 | a0001c0001t0001g0061a0001c0001t0001g0063a0001c0001t0001g0064others(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 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(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 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(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 | a0001c0001t0001g0027a0001c0001t0001g0034a0001c0001t0001g0044others(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 | a0001c0003t0001g0186a0001c0003t0001g0187a0001c0003t0001g0188others(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 | a0001c0001t0001g0128a0001c0001t0001g0129 | 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 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(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 | a0001c0004t0001g0118a0001c0004t0001g0121 | 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 | a0001c0004t0003g0114a0001c0004t0003g0115 | 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 | a0001c0001t0001g0169a0001c0001t0001g0170a0001c0001t0002g0176 | 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 | a0001c0003t0001g0186a0001c0003t0001g0187a0001c0003t0001g0188others(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 | a0001c0003t0001g0186a0001c0003t0001g0187a0001c0003t0001g0188others(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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0008t0001g0076 | 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 | a0001c0001t0002g0104a0001c0001t0002g0105 | 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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(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 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(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 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(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 | a0002c0002t0001g0013a0002c0002t0001g0014 | 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 | a0001c0001t0001g0123a0001c0001t0001g0133a0001c0001t0001g0134others(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 | a0002c0002t0001g0009a0002c0002t0001g0010 | 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 | a0001c0001t0001g0116a0001c0001t0001g0117 | 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 | a0001c0001t0001g0016a0001c0001t0001g0017 | 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 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(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 | a0001c0001t0001g0116a0001c0001t0001g0117a0001c0001t0001g0185 | 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 | a0001c0001t0001g0198a0004c0009t0001g0197 | 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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0008t0001g0076 | 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 | a0001c0001t0001g0116a0001c0001t0001g0117 | 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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0008t0001g0076 | 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 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0021 | 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 | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0031others(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 | a0001c0004t0003g0114a0001c0004t0003g0115 | 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 | a0001c0001t0001g0116a0001c0001t0001g0117a0001c0001t0001g0185 | 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 | a0001c0001t0001g0152a0001c0001t0001g0153 | 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 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0006a0001c0001t0001g0127a0001c0001t0001g0138others(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 | a0001c0001t0001g0057a0001c0001t0001g0183 | 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 | a0001c0001t0001g0098a0001c0001t0001g0106a0001c0001t0001g0107others(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 | 119 | a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0022others(116): Show | 119 | HG00099.hp2 HG00280.hp2 HG00438.hp1 others(116): 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 | a0001c0001t0001g0098a0001c0001t0001g0106a0001c0001t0001g0107others(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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0145a0001c0001t0001g0149a0001c0001t0001g0180 | 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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0018a0001c0001t0001g0019 | 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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0008t0001g0076 | 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 | a0001c0001t0001g0006a0001c0001t0001g0123a0001c0001t0001g0127others(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 | a0001c0001t0001g0025a0001c0001t0001g0031a0001c0001t0001g0032others(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 | a0001c0001t0001g0043a0001c0001t0001g0044 | 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 | a0001c0001t0001g0128a0001c0001t0001g0129 | 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 | a0003c0005t0001g0163a0003c0005t0001g0164 | 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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0004t0003g0114a0001c0004t0003g0115 | 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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(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 | a0001c0004t0001g0118a0001c0004t0001g0121a0001c0004t0003g0114others(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 | a0001c0001t0001g0119a0001c0001t0001g0120 | 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 | a0001c0001t0001g0122a0001c0001t0002g0080 | 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 | a0001c0001t0001g0198a0004c0009t0001g0197 | 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 | a0001c0001t0001g0198a0004c0009t0001g0197 | 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 | a0001c0001t0001g0035a0001c0001t0001g0040a0001c0001t0001g0048others(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 | a0002c0002t0001g0005a0002c0002t0001g0131 | 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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0061a0001c0001t0001g0063a0001c0001t0001g0067others(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 | a0001c0001t0001g0098a0001c0001t0001g0106a0001c0001t0001g0107others(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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0134a0001c0001t0001g0135 | 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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0064a0001c0001t0001g0116a0001c0001t0001g0117 | 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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(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 | a0001c0001t0001g0138a0001c0001t0001g0148a0001c0001t0001g0154 | 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 | a0001c0001t0001g0064a0004c0009t0001g0197 | 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 | a0001c0001t0001g0063a0001c0001t0001g0067 | 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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0008t0001g0076 | 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 | 13 | a0001c0001t0001g0068a0001c0001t0001g0069a0001c0001t0001g0070others(10): Show | 13 | HG00642.hp1 HG01261.hp1 HG01515.hp2 others(10): 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 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(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 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0058others(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 | a0001c0001t0001g0122a0001c0001t0002g0080 | 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 | a0001c0001t0001g0128a0001c0001t0001g0147a0001c0001t0001g0162others(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 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0015others(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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0119a0001c0001t0001g0120 | 2 | HG02922.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.259-2161G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 4/22 | chr2 | 62769178 | ||||||
| chr2:62769372
|
T | G | 197 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(194): Show | 197 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(194): Show |
intron_variant | MODIFIER | c.259-1967T>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 4/22 | chr2 | 62769372 | ||||||
| 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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0007a0001c0001t0001g0025a0001c0001t0001g0031others(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 | a0001c0001t0001g0098a0001c0001t0001g0106a0001c0001t0001g0107others(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 | 196 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(193): Show | 196 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(193): 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 | a0001c0001t0001g0123a0001c0001t0001g0133a0001c0001t0001g0134others(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 | a0001c0001t0001g0016a0001c0001t0001g0017 | 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 | a0001c0001t0001g0171a0001c0001t0001g0172 | 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 | a0001c0001t0001g0119a0001c0001t0001g0120 | 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 | a0001c0001t0001g0181a0001c0001t0001g0184 | 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 | a0001c0001t0001g0119a0001c0001t0001g0120 | 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 | a0001c0001t0001g0171a0001c0001t0001g0172 | 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 | a0001c0001t0001g0006a0001c0001t0001g0018a0001c0001t0001g0019others(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 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0007others(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 | a0001c0001t0001g0001a0001c0001t0001g0057a0001c0001t0001g0127others(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 | a0001c0001t0001g0070a0001c0001t0001g0072a0001c0001t0001g0073others(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 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0077others(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 | a0001c0004t0001g0118a0001c0004t0001g0121a0001c0004t0003g0114others(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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0024a0001c0001t0002g0080a0001c0001t0002g0086others(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 | a0001c0001t0001g0122a0001c0003t0001g0186a0001c0003t0001g0187others(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 | a0001c0001t0001g0133a0001c0001t0001g0135a0001c0001t0001g0174 | 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 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0017others(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 | a0001c0001t0001g0175a0002c0002t0001g0012a0002c0002t0001g0125 | 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 | a0001c0001t0001g0098a0001c0001t0001g0106a0001c0001t0001g0107others(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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0003t0001g0186a0001c0003t0001g0187a0001c0003t0001g0188others(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 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(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 | a0001c0001t0001g0006a0001c0001t0001g0156a0001c0001t0001g0157 | 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 | a0001c0001t0001g0124a0001c0001t0001g0158a0001c0001t0001g0178others(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 | a0001c0001t0002g0091a0001c0001t0002g0094a0001c0001t0002g0099others(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 | a0001c0001t0001g0137a0001c0001t0001g0145a0001c0001t0001g0177others(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 | 14 | a0001c0001t0001g0068a0001c0001t0001g0069a0001c0001t0001g0070others(11): Show | 14 | HG00642.hp1 HG01261.hp1 HG01261.hp2 others(11): 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 | a0002c0002t0001g0008a0002c0002t0001g0011a0002c0002t0001g0012others(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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0132a0004c0009t0001g0197 | 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 | a0001c0001t0001g0133a0001c0001t0001g0134a0001c0001t0001g0135others(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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0062a0001c0001t0001g0065 | 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 | a0001c0001t0001g0145a0001c0001t0001g0149a0001c0001t0001g0180 | 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 | a0001c0001t0001g0123a0001c0001t0001g0133a0001c0001t0001g0134others(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 | a0001c0001t0001g0124a0001c0001t0001g0158a0001c0001t0001g0178others(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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | 104 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(101): Show | 104 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(101): 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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0035a0001c0001t0001g0036 | 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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(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 | a0001c0001t0001g0058a0001c0001t0001g0059a0001c0001t0001g0060others(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 | a0001c0001t0001g0181a0001c0001t0001g0184a0001c0001t0001g0198 | 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 | a0001c0001t0001g0016a0001c0001t0001g0017 | 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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(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 | a0001c0001t0001g0106a0001c0001t0001g0107a0001c0001t0001g0122others(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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0119a0001c0001t0001g0120 | 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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0146a0001c0001t0001g0147 | 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 | 74 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(71): Show | 74 | HG00544.hp1 HG00558.hp2 HG00639.hp2 others(71): 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 | a0001c0001t0001g0003a0001c0001t0001g0064a0001c0001t0001g0145others(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 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0017others(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 | a0001c0001t0001g0161a0001c0001t0001g0162a0001c0001t0001g0165others(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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(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 | a0001c0001t0001g0025a0001c0001t0001g0031a0001c0001t0001g0032others(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 | a0001c0001t0001g0043a0001c0001t0001g0044 | 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 | a0001c0001t0001g0169a0001c0001t0001g0170a0001c0001t0002g0176 | 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 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(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 | a0001c0001t0001g0062a0001c0001t0001g0065 | 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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(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 | ||||||
| chr2:62790294
|
T | C | 1 | a0001c0001t0001g0068 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.312+18902T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62790294 | ||||||
| chr2:62790503
|
A | T | 2 | a0001c0001t0001g0140a0001c0001t0002g0143 | 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 | a0001c0001t0001g0048a0001c0001t0001g0054a0001c0001t0001g0055 | 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 | a0001c0001t0001g0043a0001c0001t0001g0044 | 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 | a0001c0001t0001g0122a0001c0001t0002g0080 | 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 | a0001c0001t0001g0161a0001c0001t0001g0165a0003c0005t0001g0163others(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 | a0002c0002t0001g0009a0002c0002t0001g0010 | 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 | a0001c0001t0002g0090a0001c0001t0002g0096 | 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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0002g0091a0001c0007t0002g0097 | 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 | a0001c0001t0001g0181a0001c0001t0001g0184a0001c0001t0001g0198 | 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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0022a0001c0001t0001g0023 | 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 | 129 | a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0022others(126): Show | 129 | HG00099.hp2 HG00280.hp2 HG00438.hp1 others(126): 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 | 14 | a0001c0001t0001g0007a0001c0001t0001g0068a0001c0001t0001g0069others(11): Show | 14 | HG00642.hp1 HG01261.hp1 HG01361.hp1 others(11): 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 | a0001c0001t0001g0038a0001c0001t0001g0077a0001c0001t0001g0078others(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 | a0001c0001t0001g0029a0001c0001t0001g0034 | 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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(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 | a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0024others(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 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0106a0001c0001t0001g0107a0001c0001t0001g0122others(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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003 | 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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0045a0001c0001t0001g0106a0001c0001t0001g0107others(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 | a0001c0001t0001g0016a0001c0001t0001g0127a0001c0001t0001g0158others(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 | a0001c0001t0001g0043a0001c0001t0001g0044 | 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 | a0001c0001t0001g0138a0001c0001t0001g0148 | 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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0002c0002t0001g0005a0002c0002t0001g0131 | 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 | a0001c0001t0001g0027a0001c0001t0001g0034a0001c0001t0001g0050others(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 | a0001c0001t0001g0074a0001c0001t0001g0119a0001c0001t0001g0120others(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 | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0001g0022others(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 | a0001c0001t0002g0090a0001c0001t0002g0096 | 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 | a0001c0004t0003g0114a0001c0004t0003g0115 | 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 | a0001c0001t0001g0074a0001c0003t0001g0186a0001c0003t0001g0187others(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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | 7 | a0001c0001t0001g0007a0001c0001t0001g0068a0001c0001t0001g0069others(4): Show | 7 | HG00642.hp1 HG01261.hp1 HG01361.hp1 others(4): 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 | a0001c0001t0001g0062a0001c0001t0001g0065 | 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 | 7 | a0001c0001t0001g0007a0001c0001t0001g0068a0001c0001t0001g0069others(4): Show | 7 | HG00642.hp1 HG01261.hp1 HG01361.hp1 others(4): 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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(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 | 8 | a0001c0001t0001g0007a0001c0001t0001g0068a0001c0001t0001g0069others(5): Show | 8 | HG00642.hp1 HG01243.hp2 HG01261.hp1 others(5): 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 | a0001c0001t0001g0044a0001c0001t0001g0077a0001c0001t0001g0078others(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 | 13 | a0001c0001t0001g0007a0001c0001t0001g0018a0001c0001t0001g0019others(10): Show | 13 | HG00642.hp1 HG01261.hp1 HG01361.hp1 others(10): 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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0171a0001c0001t0001g0172 | 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 | 7 | a0001c0001t0001g0007a0001c0001t0001g0068a0001c0001t0001g0069others(4): Show | 7 | HG00642.hp1 HG01261.hp1 HG01361.hp1 others(4): 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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003 | 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 | 7 | a0001c0001t0001g0007a0001c0001t0001g0068a0001c0001t0001g0069others(4): Show | 7 | HG00642.hp1 HG01261.hp1 HG01361.hp1 others(4): 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 | a0001c0001t0001g0140a0001c0001t0002g0143 | 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 | a0001c0001t0001g0029a0001c0001t0001g0034 | 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 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(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 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0035a0001c0001t0001g0036 | 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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(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 | a0001c0001t0001g0043a0001c0001t0001g0044 | 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 | 7 | a0001c0001t0001g0007a0001c0001t0001g0068a0001c0001t0001g0069others(4): Show | 7 | HG00642.hp1 HG01261.hp1 HG01361.hp1 others(4): 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 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(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 | a0001c0001t0001g0027a0001c0001t0001g0040a0001c0001t0001g0064others(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 | 7 | a0001c0001t0001g0007a0001c0001t0001g0068a0001c0001t0001g0069others(4): Show | 7 | HG00642.hp1 HG01261.hp1 HG01361.hp1 others(4): 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 | a0001c0004t0003g0114a0001c0004t0003g0115 | 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 | a0001c0001t0001g0169a0001c0001t0001g0170 | 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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(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 | a0001c0001t0001g0062a0001c0001t0001g0065 | 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 | a0001c0001t0001g0043a0001c0001t0001g0044 | 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 | 7 | a0001c0001t0001g0007a0001c0001t0001g0068a0001c0001t0001g0069others(4): Show | 7 | HG00642.hp1 HG01261.hp1 HG01361.hp1 others(4): 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 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(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 | a0001c0001t0002g0091a0001c0007t0002g0097 | 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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003 | 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 | ||||||
| chr2:62813532
|
G | A | 197 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(194): Show | 197 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(194): Show |
intron_variant | MODIFIER | c.313-12555G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | chr2 | 62813532 | ||||||
| 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 | a0001c0001t0001g0025a0001c0001t0001g0031a0001c0001t0001g0032others(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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(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 | a0001c0001t0001g0194a0002c0002t0001g0004a0002c0002t0001g0005others(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 | a0001c0001t0001g0169a0001c0001t0001g0170 | 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 | 8 | a0001c0001t0001g0007a0001c0001t0001g0068a0001c0001t0001g0069others(5): Show | 8 | HG00642.hp1 HG01243.hp2 HG01261.hp1 others(5): 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 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(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 | a0001c0003t0001g0186a0001c0003t0001g0187a0001c0003t0001g0188others(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 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(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 | 7 | a0001c0001t0001g0007a0001c0001t0001g0068a0001c0001t0001g0069others(4): Show | 7 | HG00642.hp1 HG01261.hp1 HG01361.hp1 others(4): 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 | a0001c0004t0001g0118a0001c0004t0001g0121a0001c0004t0003g0114others(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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0002c0002t0001g0004a0002c0002t0001g0005a0002c0002t0001g0008others(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 | a0001c0001t0001g0002a0001c0001t0001g0003 | 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 | a0001c0001t0001g0119a0001c0001t0001g0120 | 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 | a0001c0001t0001g0106a0001c0001t0001g0107a0001c0001t0001g0122others(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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003 | 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 | 11 | a0001c0001t0001g0007a0001c0001t0001g0068a0001c0001t0001g0069others(8): Show | 11 | HG00642.hp1 HG01070.hp1 HG01261.hp1 others(8): 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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(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 | a0001c0001t0001g0043a0001c0001t0001g0044 | 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 | a0001c0001t0001g0074a0001c0003t0001g0186a0001c0003t0001g0187others(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 | 7 | a0001c0001t0001g0007a0001c0001t0001g0068a0001c0001t0001g0069others(4): Show | 7 | HG00642.hp1 HG01261.hp1 HG01361.hp1 others(4): 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 | a0001c0001t0001g0119a0001c0001t0001g0120 | 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 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(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 | a0001c0001t0001g0062a0001c0001t0001g0065a0001c0001t0001g0098others(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 | a0001c0001t0001g0015a0001c0001t0001g0024a0001c0001t0001g0025others(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 | 25 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0039others(22): Show | 25 | HG00280.hp2 HG00639.hp2 HG00738.hp1 others(22): 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 | a0001c0001t0001g0033a0001c0001t0001g0061a0001c0001t0001g0079others(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 | a0001c0001t0001g0054a0001c0001t0001g0077a0001c0001t0001g0078others(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 | a0001c0001t0001g0027a0001c0001t0001g0030a0001c0001t0002g0083others(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 | a0001c0001t0001g0062a0001c0001t0001g0098 | 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 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0016others(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 | a0001c0001t0001g0007a0001c0001t0001g0018a0001c0001t0001g0019others(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 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(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 | a0001c0001t0001g0057a0001c0001t0001g0124a0001c0001t0001g0128others(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 | a0001c0001t0001g0021a0001c0001t0001g0058a0001c0001t0001g0059others(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 | a0001c0001t0001g0174a0001c0001t0001g0175a0001c0001t0002g0092 | 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 | a0001c0001t0001g0141a0001c0001t0001g0147 | 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 | a0001c0001t0001g0123a0001c0001t0001g0184 | 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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0116a0001c0001t0001g0117 | 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 | 7 | a0001c0001t0001g0007a0001c0001t0001g0068a0001c0001t0001g0069others(4): Show | 7 | HG00642.hp1 HG01261.hp1 HG01361.hp1 others(4): 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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0043a0001c0001t0001g0044 | 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 | a0001c0004t0001g0118a0001c0004t0001g0121 | 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 | 8 | a0001c0001t0001g0007a0001c0001t0001g0068a0001c0001t0001g0069others(5): Show | 8 | HG00642.hp1 HG01243.hp2 HG01261.hp1 others(5): 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 | a0001c0001t0001g0123a0001c0001t0001g0133a0001c0001t0001g0134others(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 | a0001c0001t0001g0123a0001c0001t0001g0133a0001c0001t0001g0134others(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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0133a0001c0001t0001g0134a0001c0001t0001g0135 | 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 | 100 | a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0022others(97): Show | 100 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(97): 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 | a0001c0001t0001g0043a0001c0001t0001g0044 | 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 | a0001c0003t0001g0186a0001c0003t0001g0187a0001c0003t0001g0188others(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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(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 | a0001c0001t0002g0091a0001c0007t0002g0097 | 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 | 7 | a0001c0001t0001g0007a0001c0001t0001g0068a0001c0001t0001g0069others(4): Show | 7 | HG00642.hp1 HG01261.hp1 HG01361.hp1 others(4): 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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(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 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0033others(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 | a0001c0001t0001g0122a0001c0001t0001g0136 | 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 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0020others(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 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0017others(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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(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 | a0001c0001t0001g0057a0001c0001t0001g0107a0001c0001t0001g0145others(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 | a0001c0001t0002g0037a0001c0001t0002g0168a0003c0005t0001g0163others(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 | a0001c0001t0001g0079a0001c0001t0001g0134a0001c0001t0001g0135others(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 | a0001c0001t0001g0077a0001c0001t0001g0181a0001c0008t0001g0076 | 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 | a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0024others(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 | a0001c0001t0001g0062a0001c0001t0001g0065 | 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 | a0001c0001t0001g0061a0001c0001t0001g0063a0001c0001t0001g0064others(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 | a0001c0001t0001g0116a0001c0001t0001g0117 | 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 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0033others(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 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0033others(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 | a0001c0001t0001g0007a0001c0001t0001g0069a0001c0001t0001g0070 | 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 | 3 | a0001c0001t0001g0068a0001c0001t0001g0072a0001c0001t0001g0073 | 3 | HG00642.hp1 HG02698.hp2 homoSapiens_chm13v2.hp1 |
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 | a0001c0001t0001g0044a0001c0001t0002g0101a0001c0003t0001g0191others(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 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0020others(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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(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 | 121 | a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0022others(118): Show | 121 | HG00099.hp2 HG00280.hp2 HG00438.hp1 others(118): 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 | a0001c0001t0001g0119a0001c0001t0001g0120 | 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 | a0001c0001t0001g0106a0001c0001t0001g0107a0001c0001t0001g0122others(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 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(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 | 7 | a0001c0001t0001g0007a0001c0001t0001g0068a0001c0001t0001g0069others(4): Show | 7 | HG00642.hp1 HG01261.hp1 HG01361.hp1 others(4): 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 | a0001c0001t0001g0119a0001c0001t0001g0120 | 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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | 120 | a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0022others(117): Show | 120 | HG00099.hp2 HG00280.hp2 HG00438.hp1 others(117): 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 | 7 | a0001c0001t0001g0007a0001c0001t0001g0068a0001c0001t0001g0069others(4): Show | 7 | HG00642.hp1 HG01261.hp1 HG01361.hp1 others(4): 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 | a0001c0004t0001g0118a0001c0004t0001g0121 | 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 | a0001c0001t0001g0058a0001c0001t0001g0059a0001c0001t0001g0060 | 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 | a0001c0001t0001g0062a0001c0001t0001g0065 | 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 | a0002c0002t0001g0008a0002c0002t0001g0011a0002c0002t0001g0012 | 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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0043a0001c0001t0001g0044 | 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 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0020others(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 | 155 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(152): Show | 155 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(152): Show |
intron_variant | MODIFIER | c.634+4800G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62835958 | ||||||
| chr2:62835962
|
C | G | 5 | a0001c0001t0001g0068a0001c0001t0001g0072a0001c0001t0001g0073others(2): Show | 5 | HG00642.hp1 HG01243.hp2 HG01261.hp1 others(2): 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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(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 | ||||||
| chr2:62836474
|
G | A | 197 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(194): Show | 197 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(194): Show |
intron_variant | MODIFIER | c.634+5316G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62836474 | ||||||
| chr2:62836547
|
C | T | 8 | a0001c0001t0001g0006a0001c0001t0001g0127a0001c0001t0001g0156others(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 | a0001c0001t0001g0116a0001c0001t0001g0117 | 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 | a0002c0002t0001g0004a0002c0002t0001g0005a0002c0002t0001g0008others(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 | a0001c0001t0001g0025a0001c0001t0001g0031a0001c0001t0001g0032others(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 | 5 | a0001c0001t0001g0068a0001c0001t0001g0072a0001c0001t0001g0073others(2): Show | 5 | HG00642.hp1 HG01243.hp2 HG01261.hp1 others(2): 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 | a0001c0001t0001g0061a0001c0001t0001g0063a0001c0001t0001g0067others(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 | a0001c0001t0001g0119a0001c0001t0001g0120 | 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 | a0001c0003t0001g0189a0004c0009t0001g0197 | 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 | a0001c0001t0001g0016a0001c0001t0001g0017 | 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 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(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 | a0001c0001t0002g0103a0001c0001t0002g0104a0001c0001t0002g0105 | 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 | a0001c0004t0003g0114a0001c0004t0003g0115 | 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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0007a0001c0001t0001g0069a0001c0001t0001g0070 | 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 | a0001c0001t0001g0171a0001c0001t0001g0172 | 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 | a0001c0001t0001g0166a0004c0009t0001g0197 | 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 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(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 | a0001c0001t0001g0057a0001c0001t0001g0183 | 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 | a0001c0001t0001g0116a0001c0001t0001g0117 | 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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0062a0001c0001t0001g0065 | 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 | a0001c0001t0002g0094a0001c0001t0002g0099 | 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 | 118 | a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0022others(115): Show | 118 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(115): 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 | a0001c0001t0001g0057a0001c0001t0001g0183 | 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 | 7 | a0001c0001t0001g0007a0001c0001t0001g0068a0001c0001t0001g0069others(4): Show | 7 | HG00642.hp1 HG01261.hp1 HG01361.hp1 others(4): 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 | a0001c0001t0001g0057a0001c0001t0001g0183 | 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 | ||||||
| chr2:62845017
|
T | C | 197 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(194): Show | 197 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(194): Show |
intron_variant | MODIFIER | c.634+13859T>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62845017 | ||||||
| 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 | a0001c0001t0001g0024a0001c0001t0001g0030a0001c0001t0001g0035others(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 | 166 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(163): Show | 166 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(163): Show |
intron_variant | MODIFIER | c.634+13915A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62845073 | ||||||
| chr2:62845268
|
C | G | 7 | a0001c0001t0001g0007a0001c0001t0001g0068a0001c0001t0001g0069others(4): Show | 7 | HG00642.hp1 HG01261.hp1 HG01361.hp1 others(4): 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 | a0001c0001t0001g0194a0002c0002t0001g0004a0002c0002t0001g0005others(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 | a0001c0001t0001g0002a0001c0001t0001g0036a0001c0001t0001g0127others(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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0139a0001c0001t0001g0142a0001c0001t0001g0144others(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 | a0001c0003t0001g0186a0001c0003t0001g0187a0001c0003t0001g0188others(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 | a0001c0001t0001g0061a0001c0001t0001g0063a0001c0001t0001g0067others(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 | a0001c0001t0001g0119a0001c0001t0001g0120 | 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 | 104 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(101): Show | 104 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(101): Show |
intron_variant | MODIFIER | c.635-11318A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | chr2 | 62847851 | ||||||
| chr2:62847898
|
C | A | 110 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(107): Show | 110 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(107): 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 | a0001c0001t0001g0024a0001c0001t0001g0030a0001c0001t0001g0035others(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 | a0001c0001t0001g0057a0001c0001t0001g0183 | 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 | 14 | a0001c0001t0001g0007a0001c0001t0001g0068a0001c0001t0001g0069others(11): Show | 14 | HG00642.hp1 HG01261.hp1 HG01361.hp1 others(11): 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 | a0001c0001t0001g0171a0001c0001t0001g0172a0001c0006t0001g0160 | 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 | a0001c0001t0001g0024a0001c0001t0001g0039 | 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 | a0001c0001t0002g0037a0001c0001t0002g0095 | 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 | 93 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(90): Show | 93 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(90): 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 | 92 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(89): Show | 92 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(89): 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 | 92 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(89): Show | 92 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(89): 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 | a0001c0001t0001g0016a0001c0001t0001g0017 | 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 | a0001c0001t0001g0134a0001c0001t0001g0135 | 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 | a0001c0001t0001g0043a0001c0001t0001g0044 | 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 | a0001c0001t0001g0138a0001c0001t0001g0148 | 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 | 93 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(90): Show | 93 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(90): 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 | a0001c0001t0001g0043a0001c0001t0001g0044 | 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 | a0001c0004t0003g0114a0001c0004t0003g0115 | 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 | a0001c0001t0001g0002a0001c0001t0001g0003 | 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 | a0001c0001t0001g0043a0001c0001t0001g0044a0004c0009t0001g0197 | 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 | 92 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(89): Show | 92 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(89): 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 | a0001c0001t0002g0092a0001c0001t0002g0093 | 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 | 93 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(90): Show | 93 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(90): 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 | a0001c0001t0001g0078a0001c0001t0001g0079 | 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 | 92 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(89): Show | 92 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(89): 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 | a0001c0001t0001g0043a0001c0001t0001g0044 | 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 | 150 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(147): Show | 150 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(147): 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 | a0001c0001t0001g0116a0001c0001t0001g0117a0001c0001t0001g0185 | 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 | a0002c0002t0001g0004a0002c0002t0001g0005a0002c0002t0001g0008others(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 | 92 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(89): Show | 92 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(89): 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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(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 | a0001c0001t0001g0029a0001c0001t0001g0039a0001c0001t0001g0067others(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 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0035others(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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(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 | a0002c0002t0001g0009a0002c0002t0001g0010a0002c0002t0001g0013others(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 | 7 | a0001c0001t0001g0007a0001c0001t0001g0068a0001c0001t0001g0069others(4): Show | 7 | HG00642.hp1 HG01261.hp1 HG01361.hp1 others(4): 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 | 110 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(107): Show | 110 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(107): 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 | 148 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(145): Show | 148 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(145): Show |
intron_variant | MODIFIER | c.758-2232C>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | chr2 | 62862499 | ||||||
| chr2:62862509
|
T | C | 96 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(93): Show | 96 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(93): 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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(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 | 148 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(145): Show | 148 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(145): 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 | a0001c0001t0001g0062a0001c0001t0001g0065 | 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 | a0001c0001t0001g0107a0001c0001t0001g0194a0001c0001t0002g0108others(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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(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 | a0001c0001t0001g0017a0001c0001t0001g0021a0001c0001t0001g0043others(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 | a0001c0001t0001g0003a0001c0001t0001g0194a0001c0003t0001g0189others(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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0069others(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 | 7 | a0001c0001t0001g0007a0001c0001t0001g0068a0001c0001t0001g0072others(4): Show | 7 | HG00642.hp1 HG01261.hp1 HG01361.hp1 others(4): 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 | a0001c0001t0001g0057a0001c0001t0001g0140a0001c0001t0001g0149others(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 | a0001c0001t0001g0015a0001c0001t0001g0045a0001c0001t0001g0046others(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 | a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0024others(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 | 90 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(87): Show | 90 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(87): 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 | 97 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(94): Show | 97 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(94): 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 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0020others(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 | a0001c0004t0001g0118a0001c0004t0001g0121a0001c0004t0003g0114others(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 | 106 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(103): Show | 106 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(103): 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 | 106 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(103): Show | 106 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(103): 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 | a0001c0004t0001g0118a0001c0004t0001g0121 | 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 | a0001c0001t0001g0031a0001c0001t0001g0034a0001c0001t0001g0050others(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 | 80 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0016others(77): Show | 80 | HG00280.hp1 HG00558.hp2 HG00621.hp1 others(77): 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 | a0001c0001t0001g0001a0001c0001t0001g0043a0001c0001t0001g0044others(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 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0061others(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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(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 | a0001c0001t0001g0161a0001c0001t0001g0165a0003c0005t0001g0163others(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 | a0001c0001t0001g0078a0001c0001t0001g0079 | 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 | a0001c0001t0001g0141a0001c0001t0001g0150a0001c0001t0001g0175 | 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 | a0001c0001t0001g0016a0001c0001t0001g0017 | 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 | a0001c0001t0001g0078a0001c0001t0001g0079 | 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 | 150 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(147): Show | 150 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(147): 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 | a0001c0001t0001g0138a0001c0001t0001g0148 | 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 | a0001c0004t0001g0118a0001c0004t0001g0121 | 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 | a0001c0001t0001g0029a0001c0001t0001g0034a0001c0001t0001g0040others(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 | a0001c0001t0002g0094a0001c0001t0002g0099 | 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 | a0001c0001t0001g0106a0001c0001t0001g0107a0001c0001t0001g0122others(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 | a0002c0002t0001g0005a0002c0002t0001g0131 | 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 | a0001c0001t0001g0119a0001c0001t0001g0120 | 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 | a0001c0001t0001g0152a0001c0001t0001g0153 | 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 | a0003c0005t0001g0163a0003c0005t0001g0164 | 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 | a0001c0001t0001g0106a0001c0001t0001g0107a0001c0001t0001g0122others(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 | a0001c0001t0001g0043a0001c0001t0001g0044a0002c0002t0001g0004others(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 | a0002c0002t0001g0004a0002c0002t0001g0005a0002c0002t0001g0008others(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 | 93 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(90): Show | 93 | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(90): 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 | a0001c0001t0001g0116a0001c0001t0001g0117a0001c0001t0001g0185 | 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 | a0001c0001t0001g0056a0001c0001t0001g0169 | 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 | a0001c0001t0001g0031a0001c0001t0001g0038a0001c0001t0001g0042others(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 | a0001c0001t0001g0058a0001c0001t0001g0059a0001c0001t0001g0060others(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 | a0001c0001t0001g0140a0001c0001t0001g0152a0001c0001t0001g0177others(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 | a0001c0001t0001g0106a0001c0001t0001g0107a0001c0001t0001g0122others(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 | a0001c0001t0001g0194a0001c0001t0002g0083a0001c0001t0002g0085others(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 | a0001c0001t0002g0092a0002c0002t0001g0005a0002c0002t0001g0012others(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 | a0001c0001t0002g0082a0001c0001t0002g0091a0001c0004t0003g0115others(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 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(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 | 28 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0024others(25): Show | 28 | HG00642.hp1 HG01175.hp1 HG01256.hp2 others(25): 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 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0044others(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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(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 | a0001c0001t0001g0194a0002c0002t0001g0004a0002c0002t0001g0005others(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 | 108 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(105): Show | 108 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(105): 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 | a0001c0001t0001g0007a0001c0001t0001g0069a0001c0001t0001g0070others(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 | 84 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(81): Show | 84 | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(81): 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 | a0001c0001t0001g0062a0001c0001t0001g0065 | 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 | a0001c0001t0001g0106a0001c0001t0001g0107a0001c0001t0001g0122others(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 | 14 | a0001c0001t0001g0007a0001c0001t0001g0068a0001c0001t0001g0069others(11): Show | 14 | HG00642.hp1 HG01261.hp1 HG01361.hp1 others(11): 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 | a0001c0001t0001g0123a0001c0001t0001g0133a0001c0001t0001g0134others(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 | a0001c0001t0001g0123a0001c0001t0001g0133a0001c0001t0001g0134others(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 | a0001c0001t0001g0119a0001c0001t0001g0120 | 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 | a0001c0001t0002g0091a0001c0001t0002g0094a0001c0007t0002g0097 | 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 | a0001c0001t0001g0026a0001c0001t0001g0039a0001c0001t0001g0040others(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 | a0001c0001t0001g0142a0001c0001t0001g0146a0001c0001t0002g0086others(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 | a0001c0001t0001g0048a0001c0001t0001g0054a0001c0001t0001g0055 | 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 | a0001c0001t0001g0138a0001c0001t0001g0148a0001c0001t0001g0154 | 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 | 196 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(193): Show | 196 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(193): 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 | ||||||
| chr2:62883289
|
G | A | 197 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(194): Show | 197 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(194): Show |
intron_variant | MODIFIER | c.1185+8757G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62883289 | ||||||
| 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 | 80 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(77): Show | 80 | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(77): 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 | a0001c0001t0001g0126a0001c0001t0001g0194a0002c0002t0001g0004others(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 | 121 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(118): Show | 121 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(118): 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 | 18 | a0001c0001t0001g0068a0001c0001t0001g0072a0001c0001t0001g0126others(15): Show | 18 | HG00438.hp1 HG00642.hp1 HG01074.hp2 others(15): 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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(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 | a0001c0001t0001g0194a0002c0002t0001g0004a0002c0002t0001g0005others(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 | a0001c0001t0001g0022a0001c0001t0001g0025a0001c0001t0001g0026others(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 | a0001c0001t0001g0023a0001c0001t0001g0027a0001c0001t0001g0028others(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 | a0001c0001t0001g0024a0001c0001t0001g0030a0001c0001t0001g0034others(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 | a0001c0001t0001g0124a0001c0001t0001g0137a0001c0001t0001g0178others(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 | a0001c0001t0001g0046a0001c0001t0001g0048a0001c0001t0001g0050others(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 | 14 | a0001c0001t0001g0007a0001c0001t0001g0045a0001c0001t0001g0047others(11): Show | 14 | HG01074.hp2 HG01257.hp2 HG01361.hp1 others(11): 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 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(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 | a0001c0001t0001g0015a0001c0001t0001g0049a0001c0001t0001g0050others(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 | a0001c0001t0001g0043a0001c0001t0001g0044 | 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 | a0001c0001t0001g0029a0001c0001t0001g0046a0001c0001t0001g0050others(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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0024a0001c0001t0001g0030a0001c0001t0001g0039 | 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 | a0001c0001t0002g0092a0001c0001t0002g0093 | 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 | a0001c0001t0001g0116a0001c0001t0001g0117a0001c0001t0001g0185 | 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 | a0001c0001t0001g0126a0001c0001t0001g0139a0001c0001t0001g0140others(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 | a0001c0001t0001g0106a0001c0001t0001g0107a0001c0001t0001g0122others(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 | a0001c0001t0001g0060a0001c0001t0001g0139a0002c0002t0001g0004others(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 | a0001c0001t0001g0170a0001c0001t0001g0193 | 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 | a0001c0001t0001g0007a0001c0001t0001g0069a0001c0001t0001g0070 | 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 |
2 | a0001c0001t0001g0068a0001c0001t0001g0072 | 2 | HG00642.hp1 homoSapiens_chm13v2.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 | a0001c0001t0001g0020a0001c0001t0001g0170a0001c0001t0001g0193 | 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 | a0001c0001t0001g0025a0001c0001t0001g0077a0001c0001t0001g0078others(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 | a0001c0001t0001g0138a0001c0001t0001g0194a0002c0002t0001g0004others(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 | a0001c0001t0001g0036a0001c0001t0001g0133 | 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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(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 | a0001c0001t0001g0006a0001c0001t0001g0123a0001c0001t0001g0130others(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 | a0001c0001t0001g0124a0001c0001t0001g0128a0001c0001t0001g0156others(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 | a0001c0001t0001g0074a0001c0001t0001g0129 | 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 | a0001c0003t0001g0186a0001c0003t0001g0188a0001c0003t0001g0189others(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 | a0001c0001t0001g0043a0001c0001t0001g0165 | 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 | 11 | a0001c0001t0001g0007a0001c0001t0001g0020a0001c0001t0001g0068others(8): Show | 11 | HG00642.hp1 HG00738.hp1 HG01261.hp1 others(8): 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 | a0001c0001t0001g0181a0001c0001t0001g0184a0001c0001t0001g0198 | 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 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0020others(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 | a0001c0001t0001g0140a0001c0001t0002g0084a0001c0001t0002g0086others(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 | a0001c0001t0002g0101a0002c0002t0001g0004 | 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 | a0001c0001t0001g0017a0001c0001t0001g0025a0001c0001t0001g0031others(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 | a0001c0001t0001g0022a0001c0001t0001g0023 | 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 | a0001c0001t0001g0058a0001c0001t0001g0059a0001c0001t0001g0060others(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 | 130 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(127): Show | 130 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(127): 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 | a0001c0004t0003g0114a0001c0004t0003g0115 | 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 | a0001c0001t0001g0194a0002c0002t0001g0004a0002c0002t0001g0005others(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 | a0001c0001t0001g0043a0001c0001t0001g0044 | 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 | a0001c0001t0001g0139a0001c0001t0001g0142 | 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 | 14 | a0001c0001t0001g0007a0001c0001t0001g0068a0001c0001t0001g0069others(11): Show | 14 | HG00642.hp1 HG01261.hp1 HG01361.hp1 others(11): 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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(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 | a0001c0001t0001g0116a0001c0001t0001g0117 | 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 | a0001c0001t0001g0062a0001c0001t0001g0063a0004c0009t0001g0197 | 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 | a0001c0001t0001g0065a0001c0001t0001g0067 | 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 | a0001c0001t0001g0078a0001c0008t0001g0076 | 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 | a0001c0001t0001g0061a0001c0001t0001g0077 | 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 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(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 | a0001c0001t0001g0106a0001c0001t0001g0107a0001c0001t0001g0122others(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 | a0001c0001t0001g0116a0001c0001t0001g0117 | 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 | a0001c0001t0001g0002a0001c0001t0001g0003 | 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 | a0001c0001t0001g0057a0001c0001t0001g0183 | 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 | a0001c0004t0003g0114a0001c0004t0003g0115 | 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 | 95 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(92): Show | 95 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(92): 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 | a0001c0001t0001g0062a0001c0001t0001g0065 | 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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(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 | 111 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(108): Show | 111 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(108): 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 | a0001c0001t0001g0106a0001c0001t0001g0107a0001c0001t0001g0122others(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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(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 | ||||||
| chr2:62906355
|
A | T | 197 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(194): Show | 197 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(194): Show |
intron_variant | MODIFIER | c.1185+31823A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62906355 | ||||||
| chr2:62906449
|
G | C | 78 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(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 | 111 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(108): Show | 111 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(108): 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 | a0001c0004t0003g0114a0001c0004t0003g0115 | 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 | a0001c0001t0001g0063a0001c0001t0001g0067 | 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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(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 | 148 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(145): Show | 148 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(145): 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 | a0001c0001t0001g0171a0001c0001t0001g0172 | 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 | a0001c0001t0001g0106a0001c0001t0001g0107a0001c0001t0001g0122others(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 | a0001c0001t0001g0061a0001c0001t0001g0063a0001c0001t0001g0067others(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 | a0001c0004t0001g0118a0001c0004t0001g0121 | 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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(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 | a0001c0001t0001g0016a0001c0001t0001g0017 | 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 | a0001c0001t0001g0169a0001c0001t0001g0170 | 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 | 110 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(107): Show | 110 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(107): 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 | a0001c0001t0001g0106a0001c0001t0001g0107a0001c0001t0001g0122others(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 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047 | 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 | a0001c0001t0001g0119a0001c0001t0001g0120 | 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 | a0001c0001t0001g0116a0001c0001t0001g0117 | 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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(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 | a0001c0001t0001g0194a0002c0002t0001g0004a0002c0002t0001g0005others(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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(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 | a0001c0001t0001g0194a0002c0002t0001g0004a0002c0002t0001g0005others(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 | 107 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(104): Show | 107 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(104): 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 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(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 | 107 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(104): Show | 107 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(104): 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 | a0002c0002t0001g0004a0002c0002t0001g0005a0002c0002t0001g0008others(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 | a0001c0001t0001g0022a0001c0001t0001g0023 | 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 | a0001c0001t0001g0194a0002c0002t0001g0004a0002c0002t0001g0005others(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 | a0002c0002t0001g0004a0002c0002t0001g0005a0002c0002t0001g0008others(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 | a0001c0004t0001g0118a0001c0004t0001g0121 | 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 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(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 | ||||||
| chr2:62920248
|
G | C | 197 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(194): Show | 197 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(194): Show |
intron_variant | MODIFIER | c.1186-22470G>C | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62920248 | ||||||
| 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 | a0002c0002t0001g0008a0002c0002t0001g0011a0002c0002t0001g0012 | 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 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(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 | a0001c0004t0001g0118a0001c0004t0001g0121 | 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 | a0001c0001t0001g0194a0001c0001t0002g0176a0002c0002t0001g0004others(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 | a0001c0003t0001g0186a0001c0003t0001g0187a0001c0003t0001g0188others(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 | a0001c0001t0001g0161a0001c0001t0001g0162a0001c0001t0001g0165others(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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(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 | a0001c0001t0001g0048a0001c0001t0001g0054a0001c0001t0001g0055 | 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 | a0002c0002t0001g0009a0002c0002t0001g0010 | 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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(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 | 121 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(118): Show | 121 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(118): 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 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(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 | a0001c0001t0001g0139a0001c0001t0001g0142 | 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 | a0001c0001t0001g0161a0001c0001t0001g0162a0001c0001t0001g0165others(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 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(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 | a0001c0001t0001g0122a0001c0001t0002g0080 | 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 | a0001c0001t0001g0060a0001c0001t0001g0061a0001c0001t0001g0062others(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 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(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 | a0001c0001t0001g0119a0001c0001t0001g0120 | 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 | a0001c0001t0001g0123a0001c0001t0001g0133a0001c0001t0001g0134others(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 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(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 | a0001c0001t0001g0194a0002c0002t0001g0004a0002c0002t0001g0005others(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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(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 | a0001c0001t0001g0106a0001c0001t0001g0107a0001c0001t0001g0122others(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 | a0002c0002t0001g0004a0002c0002t0001g0005a0002c0002t0001g0008others(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 | a0001c0001t0001g0034a0001c0001t0001g0061a0001c0001t0001g0062others(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 | a0001c0001t0001g0074a0001c0001t0001g0126a0001c0003t0001g0188others(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 | a0002c0002t0001g0004a0002c0002t0001g0005a0002c0002t0001g0008others(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 | a0001c0001t0001g0194a0002c0002t0001g0004a0002c0002t0001g0005others(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 | a0001c0001t0001g0106a0001c0001t0001g0107a0001c0001t0001g0122others(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 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003 | 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 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(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 | a0001c0001t0001g0194a0002c0002t0001g0004a0002c0002t0001g0005others(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 | a0001c0001t0001g0146a0001c0001t0001g0147 | 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 | a0001c0004t0001g0118a0001c0004t0001g0121 | 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 | a0002c0002t0001g0008a0002c0002t0001g0011a0002c0002t0001g0012others(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 | a0001c0001t0001g0044a0001c0001t0001g0058a0001c0001t0001g0128others(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 | a0001c0001t0001g0062a0001c0001t0001g0063a0001c0001t0001g0065others(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 | a0001c0001t0001g0106a0001c0001t0001g0107a0001c0001t0001g0122others(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 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0130others(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 | a0001c0001t0001g0042a0001c0001t0001g0075a0001c0001t0001g0161others(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 | a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0072others(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 | 46 | a0001c0001t0001g0006a0001c0001t0001g0026a0001c0001t0001g0039others(43): Show | 46 | HG00099.hp2 HG00544.hp2 HG00639.hp2 others(43): 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 | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0061others(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 | a0001c0001t0001g0007a0001c0001t0001g0069a0001c0001t0001g0070others(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 | a0001c0001t0001g0035a0001c0001t0001g0036 | 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 | a0003c0005t0001g0163a0003c0005t0001g0164 | 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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(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 | a0001c0004t0003g0114a0001c0004t0003g0115 | 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 | a0001c0001t0001g0116a0001c0001t0001g0117 | 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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(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 | a0001c0001t0001g0116a0001c0001t0001g0117 | 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 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0020others(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 | 79 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(76): Show | 79 | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(76): Show |
intron_variant | MODIFIER | c.1186-3474G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62939244 | ||||||
| chr2:62939252
|
A | G | 197 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(194): Show | 197 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(194): Show |
intron_variant | MODIFIER | c.1186-3466A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62939252 | ||||||
| chr2:62939465
|
G | T | 2 | a0001c0001t0002g0086a0001c0001t0002g0101 | 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 | a0001c0001t0001g0130a0001c0001t0001g0140 | 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 | a0001c0001t0001g0194a0002c0002t0001g0004a0002c0002t0001g0005others(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 | a0001c0001t0001g0194a0001c0001t0002g0176a0002c0002t0001g0004others(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 | a0001c0001t0001g0119a0001c0001t0001g0120 | 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 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047 | 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 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(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 | a0001c0004t0003g0114a0001c0004t0003g0115a0004c0009t0001g0197 | 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 | a0001c0001t0001g0181a0001c0001t0001g0184 | 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 | a0002c0002t0001g0009a0002c0002t0001g0010a0002c0002t0001g0013others(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 | ||||||
| chr2:62942072
|
A | G | 197 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(194): Show | 197 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(194): Show |
intron_variant | MODIFIER | c.1186-646A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | 62942072 | ||||||
| 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 | 81 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(78): Show | 81 | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(78): 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 | a0001c0001t0001g0007a0001c0001t0001g0032a0001c0001t0001g0034others(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 | a0001c0001t0001g0194a0002c0002t0001g0004a0002c0002t0001g0005others(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 | a0001c0001t0001g0006a0001c0001t0001g0018a0001c0001t0001g0019others(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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(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 | a0001c0001t0001g0074a0001c0001t0001g0123a0001c0001t0001g0133others(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 | a0001c0001t0001g0194a0001c0001t0002g0176a0002c0002t0001g0004others(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 | a0001c0001t0001g0106a0001c0001t0001g0107a0001c0001t0001g0122others(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 | a0001c0001t0002g0086a0001c0001t0002g0101 | 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 | a0001c0001t0001g0016a0001c0001t0001g0017 | 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 | a0001c0004t0003g0114a0001c0004t0003g0115 | 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 | 79 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(76): Show | 79 | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(76): 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 | a0001c0001t0001g0119a0001c0001t0001g0120 | 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 | 99 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(96): Show | 99 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(96): 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 | a0001c0001t0001g0043a0001c0001t0001g0044 | 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 | a0001c0001t0001g0025a0001c0001t0001g0031 | 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 | a0001c0001t0001g0181a0001c0001t0001g0184 | 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 | a0001c0001t0002g0176a0002c0002t0001g0004a0002c0002t0001g0005others(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 | a0002c0002t0001g0004a0002c0002t0001g0005a0002c0002t0001g0008others(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 | 83 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(80): Show | 83 | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(80): 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 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0020others(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 | a0001c0001t0002g0037a0001c0001t0002g0095 | 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 | a0001c0001t0001g0057a0001c0001t0001g0117a0001c0001t0002g0037others(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 | a0001c0001t0001g0015a0001c0001t0001g0025a0001c0001t0001g0038others(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 | a0001c0001t0001g0043a0001c0001t0001g0074a0001c0001t0001g0133others(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 | a0001c0004t0001g0118a0001c0004t0001g0121 | 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 | a0001c0001t0001g0181a0004c0009t0001g0197 | 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 | a0001c0001t0002g0082a0001c0001t0002g0083a0001c0001t0002g0085others(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 | a0001c0004t0003g0114a0001c0004t0003g0115 | 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 | a0001c0001t0001g0002a0001c0001t0001g0003 | 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 | 120 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(117): Show | 120 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(117): 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 | a0001c0001t0001g0016a0001c0001t0001g0017 | 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 | a0001c0001t0001g0046a0001c0001t0001g0048a0001c0001t0001g0054others(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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(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 | 2 | a0001c0001t0001g0068a0001c0001t0001g0072 | 2 | HG00642.hp1 homoSapiens_chm13v2.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 | a0001c0001t0002g0087a0001c0001t0002g0100 | 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 | a0002c0002t0001g0004a0002c0002t0001g0005a0002c0002t0001g0008others(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 | a0001c0001t0002g0176a0002c0002t0001g0004a0002c0002t0001g0005others(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 | 14 | a0001c0001t0001g0007a0001c0001t0001g0068a0001c0001t0001g0069others(11): Show | 14 | HG00642.hp1 HG01261.hp1 HG01261.hp2 others(11): 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 | a0001c0003t0001g0186a0001c0003t0001g0187a0001c0003t0001g0188others(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 | a0001c0004t0003g0114a0001c0004t0003g0115 | 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 | a0001c0001t0001g0039a0001c0001t0001g0043a0001c0001t0001g0044others(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 | a0001c0001t0001g0046a0001c0001t0001g0054a0001c0001t0001g0075others(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 | a0001c0001t0001g0130a0001c0001t0001g0136a0001c0001t0001g0148others(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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(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 | a0001c0001t0001g0023a0001c0001t0001g0024a0001c0001t0001g0030others(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 | a0001c0001t0001g0067a0001c0001t0001g0078a0001c0001t0001g0079others(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 | a0001c0001t0001g0122a0001c0001t0001g0126a0001c0001t0001g0142others(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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(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 | a0001c0001t0001g0059a0001c0001t0001g0123a0001c0001t0001g0128others(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 | a0001c0001t0001g0019a0001c0001t0001g0065a0001c0001t0001g0116others(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 | a0001c0001t0001g0021a0001c0001t0001g0062a0001c0001t0001g0181 | 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 | 10 | a0001c0001t0001g0007a0001c0001t0001g0068a0001c0001t0001g0069others(7): Show | 10 | HG01361.hp1 HG01515.hp2 HG02698.hp2 others(7): 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 | a0001c0001t0001g0119a0001c0001t0001g0120 | 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 | a0001c0001t0001g0130a0001c0001t0001g0175a0001c0001t0001g0193 | 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 | a0001c0001t0001g0043a0001c0001t0001g0044 | 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 | a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0024others(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 | a0001c0001t0001g0022a0001c0001t0001g0023 | 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 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(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 | a0001c0001t0001g0119a0001c0001t0001g0120 | 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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(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 | a0001c0004t0003g0114a0001c0004t0003g0115 | 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 | a0001c0001t0001g0028a0001c0001t0001g0171a0001c0001t0001g0172 | 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 | a0001c0001t0001g0016a0001c0001t0001g0017 | 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 | 84 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(81): Show | 84 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(81): 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 | a0001c0001t0001g0045a0001c0001t0001g0046 | 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 | 93 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(90): Show | 93 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(90): 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 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(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 | a0001c0001t0001g0007a0001c0001t0001g0069a0001c0001t0001g0070others(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 | a0001c0001t0001g0194a0001c0001t0002g0112a0002c0002t0001g0004others(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 | 2 | a0001c0001t0001g0068a0001c0001t0001g0072 | 2 | HG00642.hp1 homoSapiens_chm13v2.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 | a0001c0001t0001g0122a0001c0001t0001g0128a0001c0001t0001g0129 | 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 | 7 | a0001c0001t0001g0007a0001c0001t0001g0068a0001c0001t0001g0069others(4): Show | 7 | HG00642.hp1 HG01261.hp2 HG01361.hp1 others(4): 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 | 161 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(158): Show | 161 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(158): 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 | a0001c0004t0001g0118a0001c0004t0001g0121 | 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 | a0001c0001t0001g0043a0001c0001t0001g0044 | 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 | a0001c0001t0001g0119a0001c0001t0001g0120 | 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 | 184 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(181): Show | 184 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(181): 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 | a0001c0001t0001g0015a0001c0001t0001g0049a0001c0001t0001g0050others(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 | a0001c0001t0001g0194a0002c0002t0001g0004a0002c0002t0001g0005others(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 | 149 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(146): Show | 149 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(146): 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 | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0047others(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 | a0001c0001t0001g0161a0001c0001t0002g0083a0001c0001t0002g0104others(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 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0079others(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 | a0001c0001t0001g0078a0001c0001t0001g0162 | 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 | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0017others(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 | a0001c0001t0001g0030a0001c0001t0001g0038a0001c0001t0001g0043others(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 | 18 | a0001c0001t0001g0007a0001c0001t0001g0024a0001c0001t0001g0032others(15): Show | 18 | HG00280.hp2 HG00642.hp1 HG00738.hp2 others(15): 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 | a0001c0001t0001g0073a0001c0003t0001g0189 | 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 | a0001c0001t0001g0015a0001c0001t0001g0049a0001c0001t0001g0050others(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 | a0001c0001t0002g0091a0001c0001t0002g0176a0001c0007t0002g0097 | 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 | a0001c0001t0001g0015a0001c0001t0001g0049a0001c0001t0001g0050others(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 | a0001c0001t0002g0104a0001c0001t0002g0105 | 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 | a0001c0001t0002g0094a0001c0001t0002g0099a0001c0001t0002g0176others(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 | a0001c0001t0002g0094a0001c0001t0002g0099a0001c0001t0002g0176others(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 | 92 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(89): Show | 92 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(89): 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 | a0001c0001t0001g0116a0001c0001t0001g0117 | 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 | a0001c0001t0001g0007a0001c0001t0001g0035a0001c0001t0001g0116others(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 | a0001c0001t0001g0123a0001c0001t0001g0133a0001c0001t0001g0134others(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 | 7 | a0001c0001t0001g0052a0001c0001t0001g0068a0001c0001t0001g0116others(4): Show | 7 | HG01175.hp2 HG02818.hp1 HG03139.hp2 others(4): 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 | a0001c0001t0001g0035a0001c0001t0001g0049a0001c0001t0001g0123others(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 | 97 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(94): Show | 97 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(94): 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 | a0001c0001t0001g0194a0002c0002t0001g0004a0002c0002t0001g0005others(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 | a0001c0001t0001g0043a0001c0001t0001g0044 | 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 | a0001c0001t0001g0062a0001c0001t0001g0065 | 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 | a0001c0001t0001g0062a0001c0001t0001g0063a0001c0001t0001g0064others(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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079 | 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 | a0001c0001t0001g0063a0001c0001t0001g0067 | 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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(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 | a0001c0001t0001g0035a0001c0001t0001g0036 | 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 | a0001c0003t0001g0186a0001c0003t0001g0187a0001c0003t0001g0188others(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 | 81 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(78): Show | 81 | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(78): 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 | a0001c0001t0001g0119a0001c0001t0001g0120 | 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 | a0001c0001t0001g0171a0001c0001t0001g0172 | 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 | a0001c0001t0001g0116a0001c0001t0001g0117 | 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 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0020others(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 | a0001c0001t0001g0043a0001c0001t0001g0044 | 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 | a0001c0001t0001g0116a0001c0001t0001g0117 | 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 | 8 | a0001c0001t0001g0007a0001c0001t0001g0068a0001c0001t0001g0069others(5): Show | 8 | HG00642.hp1 HG01261.hp2 HG01361.hp1 others(5): 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 | a0001c0001t0001g0106a0001c0001t0001g0107a0001c0001t0002g0080others(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 | a0001c0001t0001g0022a0001c0001t0001g0023 | 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 | a0001c0004t0001g0118a0001c0004t0001g0121 | 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 | a0001c0001t0001g0043a0001c0001t0001g0044 | 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 | a0001c0001t0002g0111a0001c0001t0002g0113 | 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 | a0001c0001t0001g0145a0001c0001t0001g0146a0001c0001t0001g0147others(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 | a0001c0001t0001g0003a0001c0001t0001g0128a0001c0001t0001g0133others(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 | a0001c0001t0001g0147a0001c0001t0001g0177 | 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 | 36 | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0017others(33): Show | 36 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(33): 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 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0018others(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 | a0001c0001t0001g0015a0001c0001t0001g0021a0001c0001t0001g0041others(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 | a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0025others(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 | a0001c0001t0001g0185a0001c0001t0002g0104a0001c0001t0002g0105others(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 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0042others(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 | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0061others(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 | a0001c0001t0001g0024a0001c0001t0001g0030a0001c0001t0001g0039others(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 | a0001c0001t0001g0052a0001c0001t0002g0095 | 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 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(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 | a0001c0001t0001g0016a0001c0001t0001g0017 | 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 | a0001c0001t0001g0116a0001c0001t0001g0117 | 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 | a0001c0001t0001g0124a0001c0001t0001g0178a0001c0001t0001g0179 | 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 | a0001c0001t0001g0139a0001c0001t0001g0142 | 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 | a0001c0001t0001g0016a0001c0001t0001g0017 | 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 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(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 | a0001c0001t0002g0092a0001c0001t0002g0093 | 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 | 14 | a0001c0001t0001g0007a0001c0001t0001g0068a0001c0001t0001g0069others(11): Show | 14 | HG00642.hp1 HG01261.hp2 HG01361.hp1 others(11): 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 | 2 | a0001c0001t0001g0068a0001c0001t0001g0072 | 2 | HG00642.hp1 homoSapiens_chm13v2.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 | 160 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(157): Show | 160 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(157): 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 | a0001c0001t0001g0141a0001c0001t0001g0150 | 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 | a0001c0001t0001g0061a0001c0001t0001g0063a0001c0001t0001g0067others(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 | a0001c0001t0001g0122a0001c0001t0001g0194a0002c0002t0001g0004others(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 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(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 | a0001c0001t0001g0078a0001c0001t0001g0079 | 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 | a0001c0001t0001g0043a0001c0001t0001g0044 | 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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(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 | a0001c0001t0002g0103a0001c0001t0002g0104a0001c0001t0002g0105others(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 | a0001c0001t0002g0082a0001c0001t0002g0083a0001c0001t0002g0085others(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 | a0001c0004t0003g0114a0001c0004t0003g0115 | 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 | a0002c0002t0001g0009a0002c0002t0001g0010 | 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 | a0001c0001t0001g0122a0002c0002t0001g0004a0002c0002t0001g0005others(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 | a0001c0001t0001g0184a0001c0001t0001g0198 | 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 | a0001c0001t0001g0107a0001c0001t0001g0157 | 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 | a0001c0001t0001g0025a0001c0001t0001g0031 | 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 | a0001c0001t0001g0057a0001c0001t0001g0183 | 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 | a0001c0004t0003g0114a0001c0004t0003g0115 | 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 | a0001c0001t0001g0043a0001c0001t0001g0069a0001c0001t0001g0072others(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 | a0001c0001t0001g0133a0001c0003t0001g0187 | 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 | a0001c0001t0001g0026a0001c0001t0001g0031a0001c0001t0001g0192others(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 | a0001c0001t0001g0025a0001c0001t0001g0038a0001c0001t0002g0082others(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 |
17 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0007others(14): Show | 17 | HG00099.hp1 HG00558.hp2 HG01256.hp1 others(14): 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 | a0001c0001t0001g0001a0001c0001t0001g0017a0001c0001t0001g0020others(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 | a0001c0001t0001g0127a0001c0001t0001g0149a0001c0001t0001g0152others(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 | a0001c0001t0001g0044a0001c0001t0001g0057a0001c0001t0001g0075others(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 | a0001c0001t0001g0006a0001c0001t0001g0016a0001c0001t0001g0134others(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 | a0001c0001t0001g0107a0001c0001t0001g0126 | 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 | a0001c0001t0001g0156a0001c0001t0001g0170a0001c0001t0001g0173 | 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 | a0001c0001t0001g0019a0001c0001t0001g0024a0001c0001t0001g0032others(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 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0064others(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 | a0001c0001t0001g0063a0001c0001t0001g0067a0002c0002t0001g0013others(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 | a0001c0001t0001g0136a0001c0001t0001g0158a0001c0001t0001g0184 | 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 | a0001c0001t0001g0128a0001c0001t0001g0137a0001c0001t0001g0177others(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 | a0001c0001t0001g0058a0001c0001t0001g0059a0001c0001t0001g0122others(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 | a0001c0001t0001g0129a0001c0001t0001g0182a0002c0002t0001g0005others(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 | a0002c0002t0001g0013a0002c0002t0001g0014 | 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 | a0001c0004t0003g0114a0001c0004t0003g0115 | 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 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0039others(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 | a0001c0001t0001g0038a0001c0001t0001g0077a0001c0001t0001g0078others(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 | a0001c0001t0001g0134a0001c0001t0001g0135a0001c0001t0001g0136others(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 | a0001c0001t0001g0015a0001c0001t0001g0045a0001c0001t0001g0046others(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 | a0001c0001t0001g0069a0001c0001t0001g0070a0001c0001t0001g0165 | 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 | 91 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0016others(88): Show | 91 | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(88): 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 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0025others(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 | a0001c0001t0001g0136a0002c0002t0001g0005a0002c0002t0001g0011others(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 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(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 | a0001c0001t0001g0061a0001c0001t0001g0063a0001c0001t0001g0067others(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 | 121 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(118): Show | 121 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(118): 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 | a0001c0001t0001g0122a0002c0002t0001g0004a0002c0002t0001g0005others(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 | a0001c0001t0001g0162a0002c0002t0001g0013 | 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 | 144 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(141): Show | 144 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(141): 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 | a0001c0001t0001g0018a0001c0001t0001g0020a0001c0001t0001g0021others(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 | a0001c0001t0001g0152a0001c0001t0001g0153 | 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 | a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0025others(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 | a0001c0001t0001g0030a0001c0001t0001g0034a0001c0001t0001g0042others(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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(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 | 16 | a0001c0001t0001g0007a0001c0001t0001g0068a0001c0001t0001g0069others(13): Show | 16 | HG00544.hp1 HG00642.hp1 HG01261.hp2 others(13): 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 | a0001c0001t0001g0029a0001c0001t0001g0033a0001c0001t0001g0034others(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 | a0001c0001t0001g0035a0001c0001t0001g0036 | 2 | HG01884.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.3104-12199G>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63025336 | ||||||
| chr2:63025468
|
A | G | 197 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(194): Show | 197 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(194): Show |
intron_variant | MODIFIER | c.3104-12067A>G | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63025468 | ||||||
| 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 | a0001c0001t0001g0075a0001c0001t0001g0161a0003c0005t0001g0163others(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 | a0001c0001t0001g0057a0001c0001t0001g0183 | 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 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(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 | a0001c0001t0001g0019a0001c0001t0001g0041a0001c0001t0001g0047others(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 | a0001c0001t0001g0015a0001c0001t0001g0027a0001c0001t0001g0050others(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 | a0001c0001t0002g0080a0001c0001t0002g0083a0001c0001t0002g0084others(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 | a0001c0001t0002g0101a0001c0001t0002g0102 | 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 | a0001c0001t0001g0051a0001c0001t0002g0081 | 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 | a0001c0001t0001g0031a0001c0001t0001g0042a0001c0001t0001g0054others(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 | 44 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0018others(41): Show | 44 | HG00280.hp1 HG00558.hp2 HG00621.hp1 others(41): 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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(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 | a0001c0001t0001g0161a0001c0003t0001g0189 | 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 | a0001c0001t0001g0044a0001c0001t0001g0126a0001c0006t0001g0160others(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 | a0001c0001t0002g0037a0001c0001t0002g0080a0001c0001t0002g0081others(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 | a0001c0004t0001g0118a0001c0004t0001g0121 | 2 | HG01167.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.3104-11065T>A | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63026470 | ||||||
| chr2:63026745
|
A | T | 197 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(194): Show | 197 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(194): Show |
intron_variant | MODIFIER | c.3104-10790A>T | EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | chr2 | 63026745 | ||||||
| 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 | a0001c0001t0002g0090a0001c0001t0002g0096 | 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 | a0002c0002t0001g0009a0002c0002t0001g0010 | 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 | a0001c0001t0001g0035a0001c0001t0001g0036 | 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 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0185others(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 | a0001c0001t0001g0122a0001c0001t0001g0194a0002c0002t0001g0004others(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 | a0001c0001t0001g0024a0001c0001t0001g0039 | 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 | a0001c0001t0001g0019a0001c0001t0001g0061a0001c0001t0001g0062others(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 | a0001c0001t0001g0028a0001c0001t0001g0048a0001c0001t0001g0058others(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 | a0001c0001t0001g0019a0001c0001t0001g0026a0001c0001t0001g0027others(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 | a0001c0001t0001g0034a0001c0001t0001g0119a0001c0001t0001g0120others(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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(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 | a0001c0001t0001g0185a0004c0009t0001g0197 | 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 | 42 | a0001c0001t0001g0017a0001c0001t0001g0019a0001c0001t0001g0026others(39): Show | 42 | HG00099.hp2 HG00280.hp2 HG00438.hp1 others(39): 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 | a0001c0001t0001g0035a0001c0001t0001g0036 | 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 | 111 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(108): Show | 111 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(108): 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 | a0001c0001t0001g0016a0001c0001t0001g0017 | 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 | a0001c0001t0001g0062a0001c0001t0001g0065 | 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 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0063others(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 | a0001c0001t0001g0171a0001c0001t0001g0172 | 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 | a0001c0001t0001g0139a0001c0001t0001g0142 | 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 | a0001c0001t0001g0171a0001c0001t0001g0172 | 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 | a0001c0001t0001g0035a0001c0001t0001g0036 | 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 | a0001c0001t0001g0057a0001c0001t0001g0183 | 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 | a0001c0001t0001g0122a0002c0002t0001g0004a0002c0002t0001g0005others(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 | a0001c0001t0001g0019a0001c0001t0001g0117 | 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 | a0001c0001t0001g0107a0001c0001t0001g0127a0001c0001t0001g0156others(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 | a0001c0001t0001g0106a0001c0001t0001g0162 | 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 | a0001c0001t0001g0019a0001c0001t0001g0117 | 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 | a0001c0001t0002g0176a0001c0007t0002g0097 | 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 | a0001c0001t0001g0006a0001c0001t0001g0044a0001c0001t0001g0058others(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 | a0001c0001t0001g0171a0001c0001t0001g0172 | 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 | a0001c0001t0001g0019a0001c0001t0001g0117 | 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 | 99 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(96): Show | 99 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(96): 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 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0018others(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 | a0001c0001t0001g0021a0001c0001t0001g0035a0001c0001t0001g0038others(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 | a0001c0001t0001g0057a0001c0001t0001g0178a0001c0001t0001g0179others(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 | a0001c0001t0001g0055a0001c0001t0001g0120a0001c0001t0001g0171others(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 | a0001c0001t0001g0169a0001c0001t0001g0192a0001c0001t0002g0088others(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 | a0001c0001t0001g0040a0001c0001t0001g0045a0001c0001t0001g0048others(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 | a0001c0001t0001g0047a0001c0001t0002g0080a0001c0001t0002g0101others(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 | a0001c0001t0001g0063a0001c0001t0001g0134a0001c0001t0002g0085others(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 | a0001c0001t0001g0019a0001c0001t0001g0117 | 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 | 26 | a0001c0001t0001g0007a0001c0001t0001g0024a0001c0001t0001g0025others(23): Show | 26 | HG00099.hp2 HG00642.hp1 HG00738.hp2 others(23): 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 | a0001c0001t0001g0020a0001c0001t0001g0022a0001c0001t0001g0023others(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 | a0001c0001t0001g0015a0001c0001t0001g0049a0001c0001t0001g0051others(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 | a0001c0001t0001g0006a0001c0001t0001g0140a0001c0001t0001g0175others(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 | a0001c0001t0001g0156a0001c0001t0001g0173a0002c0002t0001g0011others(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 | a0001c0001t0001g0044a0001c0001t0001g0046a0001c0001t0001g0122others(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 | a0001c0001t0001g0015a0001c0001t0001g0049a0001c0001t0001g0050others(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 | a0001c0001t0001g0019a0001c0001t0001g0038a0001c0001t0001g0044others(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 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0025others(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 | a0002c0002t0001g0005a0002c0002t0001g0131 | 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 |