Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 647135 |
|---|---|
| ensemblid | ENSG00000196369.12 |
| hgncid | 35237 |
| symbol | SRGAP2B |
| name | SLIT-ROBO Rho GTPase activating protein 2B |
| refseq_nuc | NM_001271870.5 |
| refseq_prot | NP_001258799.2 |
| ensembl_nuc | ENST00000641863.3 |
| ensembl_prot | ENSP00000493121.1 |
| mane_status | MANE Select |
| chr | chr1 |
| start | 144887288 |
| end | 145095328 |
| strand | - |
| ver | v1.2 |
| region | chr1:144887288-145095328 |
| region5000 | chr1:144882288-145100328 |
| regionname0 | SRGAP2B_chr1_144887288_145095328 |
| regionname5000 | SRGAP2B_chr1_144882288_145100328 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 459 | 44 | 2 | 15 | 15 | 4 | 6 | 6 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| a0002 | 0/0 | 459 | 4 | 0 | 0 | 4 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| a0003 | 0/0 | 459 | 2 | 0 | 0 | 0 | 0 | 2 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| a0004 | 0/0 | 459 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| a0005 | 0/0 | 459 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| a0006 | 0/0 | 459 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| a0007 | 0/0 | 459 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| a0008 | 0/0 | 459 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| a0009 | 0/0 | 459 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| chapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 1/1 | 1380 | 44 | 2 | 15 | 15 | 4 | 6 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| c0002 | 0/0 | 1380 | 4 | 0 | 0 | 4 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| c0003 | 0/0 | 1380 | 2 | 0 | 0 | 0 | 0 | 2 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| c0004 | 0/0 | 1380 | 1 | 0 | 0 | 0 | 0 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| c0005 | 0/0 | 1380 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| c0006 | 0/0 | 1380 | 1 | 1 | 0 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| c0007 | 0/0 | 1380 | 1 | 1 | 0 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| c0008 | 0/0 | 1380 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| c0009 | 0/0 | 1380 | 1 | 0 | 0 | 0 | 0 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| thapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 0/1 | 5521 | 29 | 0 | 10 | 13 | 2 | 3 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| t0002 | 1/0 | 5521 | 7 | 0 | 1 | 3 | 0 | 2 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| t0003 | 0/0 | 5523 | 3 | 0 | 1 | 0 | 1 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| t0004 | 0/0 | 5521 | 2 | 0 | 0 | 0 | 0 | 2 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| t0005 | 0/0 | 5522 | 2 | 0 | 0 | 1 | 0 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| t0006 | 0/0 | 5521 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| t0007 | 0/0 | 5521 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| t0008 | 0/0 | 5521 | 1 | 1 | 0 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| t0009 | 0/0 | 5521 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| t0010 | 0/0 | 5521 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| t0011 | 0/0 | 5521 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| t0012 | 0/0 | 5522 | 1 | 0 | 0 | 0 | 1 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| t0013 | 0/0 | 5522 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| t0014 | 0/0 | 5523 | 1 | 1 | 0 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| t0015 | 0/0 | 5523 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| t0016 | 0/0 | 5523 | 1 | 0 | 0 | 0 | 0 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| t0017 | 0/0 | 5521 | 1 | 1 | 0 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| t0018 | 0/0 | 5521 | 1 | 1 | 0 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0002 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0009 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0012 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0013 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0014 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0015 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0016 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0026 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0032 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0033 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0035 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0038 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0044 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0046 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0050 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0051 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0052 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0054 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0055 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 1380 | 44 | 2 | 15 | 15 | 4 | 6 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| a0002c0002 | 0/0 | 1380 | 4 | 0 | 0 | 4 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| a0003c0003 | 0/0 | 1380 | 2 | 0 | 0 | 0 | 0 | 2 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| a0004c0009 | 0/0 | 1380 | 1 | 0 | 0 | 0 | 0 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| a0005c0004 | 0/0 | 1380 | 1 | 0 | 0 | 0 | 0 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| a0006c0005 | 0/0 | 1380 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| a0007c0006 | 0/0 | 1380 | 1 | 1 | 0 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| a0008c0007 | 0/0 | 1380 | 1 | 1 | 0 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| a0009c0008 | 0/0 | 1380 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/1 | 6900 | 27 | 0 | 10 | 11 | 2 | 3 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| a0001c0001t0002 | 1/0 | 6900 | 7 | 0 | 1 | 3 | 0 | 2 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| a0001c0001t0003 | 0/0 | 6902 | 2 | 0 | 1 | 0 | 1 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| a0001c0001t0007 | 0/0 | 6900 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| a0001c0001t0008 | 0/0 | 6900 | 1 | 1 | 0 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| a0001c0001t0009 | 0/0 | 6900 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| a0001c0001t0012 | 0/0 | 6901 | 1 | 0 | 0 | 0 | 1 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| a0001c0001t0013 | 0/0 | 6901 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| a0001c0001t0015 | 0/0 | 6902 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| a0001c0001t0016 | 0/0 | 6902 | 1 | 0 | 0 | 0 | 0 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| a0001c0001t0017 | 0/0 | 6900 | 1 | 1 | 0 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| a0002c0002t0001 | 0/0 | 6900 | 2 | 0 | 0 | 2 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| a0002c0002t0010 | 0/0 | 6900 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| a0002c0002t0011 | 0/0 | 6900 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| a0003c0003t0004 | 0/0 | 6900 | 2 | 0 | 0 | 0 | 0 | 2 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| a0004c0009t0003 | 0/0 | 6902 | 1 | 0 | 0 | 0 | 0 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| a0005c0004t0005 | 0/0 | 6901 | 1 | 0 | 0 | 0 | 0 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| a0006c0005t0006 | 0/0 | 6900 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| a0007c0006t0014 | 0/0 | 6902 | 1 | 1 | 0 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| a0008c0007t0018 | 0/0 | 6900 | 1 | 1 | 0 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| a0009c0008t0005 | 0/0 | 6901 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | copy fasta | chr1 | 144882288 | 145100328 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0009 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0015 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0026 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0032 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0033 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0044 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0050 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0001g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0002g0002 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0002g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0002g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0002g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0002g0012 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0002g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0002g0035 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0003g0016 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0003g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0007g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0008g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0009g0046 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0012g0051 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0013g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0015g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0016g0038 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0001c0001t0017g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0002c0002t0001g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0002c0002t0001g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0002c0002t0010g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0002c0002t0011g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0003c0003t0004g0054 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0003c0003t0004g0055 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0004c0009t0003g0014 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0005c0004t0005g0013 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0006c0005t0006g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0007c0006t0014g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0008c0007t0018g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| a0009c0008t0005g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00280 | hp1 | a0001 | c0001 | t0001 | g0050 | EUR | FIN | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG00280 | hp2 | a0001 | c0001 | t0001 | g0032 | EUR | FIN | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG00673 | hp1 | a0002 | c0002 | t0010 | g0023 | EAS | CHS | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG00673 | hp2 | a0001 | c0001 | t0001 | g0045 | EAS | CHS | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG00735 | hp1 | a0001 | c0001 | t0001 | g0027 | AMR | PUR | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG00735 | hp2 | a0001 | c0001 | t0001 | g0044 | AMR | PUR | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG01099 | hp1 | a0001 | c0001 | t0001 | g0040 | AMR | PUR | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG01099 | hp2 | a0001 | c0001 | t0001 | g0029 | AMR | PUR | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG01109 | hp1 | a0001 | c0001 | t0009 | g0046 | AMR | PUR | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG01109 | hp2 | a0001 | c0001 | t0001 | g0030 | AMR | PUR | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG01175 | hp1 | a0001 | c0001 | t0001 | g0020 | AMR | PUR | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG01175 | hp2 | a0006 | c0005 | t0006 | g0053 | AMR | PUR | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG01258 | hp1 | a0001 | c0001 | t0001 | g0026 | AMR | CLM | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG01258 | hp2 | a0001 | c0001 | t0002 | g0003 | AMR | CLM | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG01346 | hp1 | a0001 | c0001 | t0015 | g0010 | AMR | CLM | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG01346 | hp2 | a0001 | c0001 | t0013 | g0025 | AMR | CLM | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG01952 | hp1 | a0001 | c0001 | t0003 | g0022 | AMR | PEL | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG01952 | hp2 | a0001 | c0001 | t0001 | g0019 | AMR | PEL | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG01978 | hp1 | a0001 | c0001 | t0001 | g0047 | AMR | PEL | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG01978 | hp2 | a0001 | c0001 | t0001 | g0041 | AMR | PEL | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG02015 | hp1 | a0002 | c0002 | t0001 | g0042 | EAS | KHV | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG02015 | hp2 | a0001 | c0001 | t0001 | g0024 | EAS | KHV | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG02071 | hp1 | a0001 | c0001 | t0001 | g0036 | EAS | KHV | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG02071 | hp2 | a0002 | c0002 | t0011 | g0028 | EAS | KHV | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG02083 | hp1 | a0001 | c0001 | t0001 | g0018 | EAS | KHV | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG02083 | hp2 | a0002 | c0002 | t0001 | g0031 | EAS | KHV | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG02129 | hp1 | a0001 | c0001 | t0001 | g0006 | EAS | KHV | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG02129 | hp2 | a0001 | c0001 | t0002 | g0017 | EAS | KHV | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG02135 | hp1 | a0009 | c0008 | t0005 | g0039 | EAS | KHV | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG02135 | hp2 | a0001 | c0001 | t0001 | g0021 | EAS | KHV | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG02257 | hp1 | a0001 | c0001 | t0017 | g0043 | AFR | ACB | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG02257 | hp2 | a0001 | c0001 | t0008 | g0005 | AFR | ACB | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG02523 | hp1 | a0001 | c0001 | t0001 | g0056 | EAS | KHV | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG02523 | hp2 | a0001 | c0001 | t0001 | g0049 | EAS | KHV | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG02602 | hp1 | a0001 | c0001 | t0002 | g0035 | SAS | PJL | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG02602 | hp2 | a0001 | c0001 | t0001 | g0015 | SAS | PJL | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG02615 | hp1 | a0007 | c0006 | t0014 | g0007 | AFR | GWD | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG02615 | hp2 | a0008 | c0007 | t0018 | g0001 | AFR | GWD | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG03490 | hp1 | a0005 | c0004 | t0005 | g0013 | SAS | PJL | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG03490 | hp2 | a0003 | c0003 | t0004 | g0055 | SAS | PJL | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG03492 | hp1 | a0003 | c0003 | t0004 | g0054 | SAS | PJL | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG03492 | hp2 | a0004 | c0009 | t0003 | g0014 | SAS | PJL | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG03669 | hp1 | a0001 | c0001 | t0001 | g0052 | SAS | PJL | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG03669 | hp2 | a0001 | c0001 | t0001 | g0009 | SAS | PJL | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG03831 | hp1 | a0001 | c0001 | t0002 | g0002 | SAS | BEB | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| HG03831 | hp2 | a0001 | c0001 | t0016 | g0038 | SAS | BEB | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| NA18941 | hp1 | a0001 | c0001 | t0002 | g0004 | EAS | JPT | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| NA18941 | hp2 | a0001 | c0001 | t0007 | g0011 | EAS | JPT | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| NA18946 | hp1 | a0001 | c0001 | t0001 | g0034 | EAS | JPT | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| NA18946 | hp2 | a0001 | c0001 | t0001 | g0048 | EAS | JPT | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| NA18959 | hp1 | a0001 | c0001 | t0002 | g0008 | EAS | JPT | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| NA18959 | hp2 | a0001 | c0001 | t0001 | g0037 | EAS | JPT | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| NA20805 | hp1 | a0001 | c0001 | t0012 | g0051 | EUR | TSI | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| NA20805 | hp2 | a0001 | c0001 | t0003 | g0016 | EUR | TSI | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0001 | g0033 | REF | REF | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| homoSapiens_grch38 | hp1 | a0001 | c0001 | t0002 | g0012 | REF | REF | SRGAP2B_chr1_144882288_145100328 | SRGAP2B | chr1 | 144882288 | 145100328 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:144892167
|
C | G | 1 | a0002 | 4 | HG00673.hp1 HG02015.hp1 HG02071.hp2 others(1): Show |
missense_variant | MODERATE | c.1373G>C | p.Gly458Ala | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 2021/6900 | 1373/1380 | 458/459 | chr1 | 144892167 | ||
| chr1:144892276
|
C | T | 1 | a0007 | 1 | HG02615.hp1 | missense_variant | MODERATE | c.1264G>A | p.Val422Ile | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 1912/6900 | 1264/1380 | 422/459 | chr1 | 144892276 | ||
| chr1:144905174
|
G | A | 1 | a0008 | 1 | HG02615.hp2 | missense_variant | MODERATE | c.748C>T | p.Arg250Trp | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/10 | 1396/6900 | 748/1380 | 250/459 | chr1 | 144905174 | ||
| chr1:144905218
|
C | T | 1 | a0006 | 1 | HG01175.hp2 | missense_variant&splice_region_variant | MODERATE | c.704G>A | p.Arg235His | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/10 | 1352/6900 | 704/1380 | 235/459 | chr1 | 144905218 | ||
| chr1:144906010
|
G | A | 1 | a0009 | 1 | HG02135.hp1 | missense_variant | MODERATE | c.551C>T | p.Ala184Val | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 6/10 | 1199/6900 | 551/1380 | 184/459 | chr1 | 144906010 | ||
| chr1:144914693
|
G | A | 1 | a0003 | 2 | HG03490.hp2 HG03492.hp1 |
missense_variant&splice_region_variant | MODERATE | c.485C>T | p.Ser162Leu | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/10 | 1133/6900 | 485/1380 | 162/459 | chr1 | 144914693 | ||
| chr1:144995143
|
C | T | 1 | a0005 | 1 | HG03490.hp1 | missense_variant | MODERATE | c.125G>A | p.Arg42Gln | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/10 | 773/6900 | 125/1380 | 42/459 | chr1 | 144995143 | ||
| chr1:144995194
|
C | A | 1 | a0004 | 1 | HG03492.hp2 | missense_variant | MODERATE | c.74G>T | p.Arg25Leu | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/10 | 722/6900 | 74/1380 | 25/459 | chr1 | 144995194 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:144892181
|
C | T | 1 | a0006c0005 | 1 | HG01175.hp2 | synonymous_variant | LOW | c.1359G>A | p.Val453Val | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 2007/6900 | 1359/1380 | 453/459 | chr1 | 144892181 | ||
| chr1:145092869
|
C | T | 1 | a0003c0003 | 2 | HG03490.hp2 HG03492.hp1 |
synonymous_variant | LOW | c.33G>A | p.Lys11Lys | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/10 | 681/6900 | 33/1380 | 11/459 | chr1 | 145092869 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:144887375
|
A | G | 1 | a0001c0001t0013 | 1 | HG01346.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4785T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 4785 | chr1 | 144887375 | |||||
| chr1:144887394
|
C | T | 15 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(12): Show | 43 | HG00280.hp1 HG00280.hp2 HG00673.hp1 others(40): Show |
3_prime_UTR_variant | MODIFIER | c.*4766G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 4766 | chr1 | 144887394 | |||||
| chr1:144887843
|
G | C | 15 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(12): Show | 43 | HG00280.hp1 HG00280.hp2 HG00673.hp1 others(40): Show |
3_prime_UTR_variant | MODIFIER | c.*4317C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 4317 | chr1 | 144887843 | |||||
| chr1:144887936
|
T | G | 1 | a0001c0001t0009 | 1 | HG01109.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4224A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 4224 | chr1 | 144887936 | |||||
| chr1:144888185
|
G | A | 1 | a0006c0005t0006 | 1 | HG01175.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3975C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 3975 | chr1 | 144888185 | |||||
| chr1:144888371
|
C | G | 1 | a0001c0001t0012 | 1 | NA20805.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3789G>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 3789 | chr1 | 144888371 | |||||
| chr1:144888596
|
G | A | 1 | a0001c0001t0015 | 1 | HG01346.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3564C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 3564 | chr1 | 144888596 | |||||
| chr1:144888673
|
G | C | 1 | a0003c0003t0004 | 2 | HG03490.hp2 HG03492.hp1 |
3_prime_UTR_variant | MODIFIER | c.*3487C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 3487 | chr1 | 144888673 | |||||
| chr1:144888792
|
C | G | 1 | a0001c0001t0007 | 1 | NA18941.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3368G>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 3368 | chr1 | 144888792 | |||||
| chr1:144888881
|
G | A | 1 | a0003c0003t0004 | 2 | HG03490.hp2 HG03492.hp1 |
3_prime_UTR_variant | MODIFIER | c.*3279C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 3279 | chr1 | 144888881 | |||||
| chr1:144888884
|
C | T | 1 | a0001c0001t0008 | 1 | HG02257.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3276G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 3276 | chr1 | 144888884 | |||||
| chr1:144889167
|
C | A | 2 | a0001c0001t0013a0003c0003t0004 | 3 | HG01346.hp2 HG03490.hp2 HG03492.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2993G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 2993 | chr1 | 144889167 | |||||
| chr1:144889241
|
T | C | 3 | a0001c0001t0013a0003c0003t0004a0006c0005t0006 | 4 | HG01175.hp2 HG01346.hp2 HG03490.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*2919A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 2919 | chr1 | 144889241 | |||||
| chr1:144890150
|
G | A | 1 | a0002c0002t0010 | 1 | HG00673.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2010C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 2010 | chr1 | 144890150 | |||||
| chr1:144890319
|
T | C | 1 | a0002c0002t0011 | 1 | HG02071.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1841A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 1841 | chr1 | 144890319 | |||||
| chr1:144890390
|
C | T | 1 | a0006c0005t0006 | 1 | HG01175.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1770G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 1770 | chr1 | 144890390 | |||||
| chr1:144891571
|
T | TA | 4 | a0001c0001t0012a0001c0001t0013a0005c0004t0005others(1): Show | 4 | HG01346.hp2 HG02135.hp1 HG03490.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*588dupT | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 588 | chr1 | 144891571 | |||||
| chr1:144891571
|
T | TAA | 5 | a0001c0001t0003a0001c0001t0015a0001c0001t0016others(2): Show | 6 | HG01346.hp1 HG01952.hp1 HG02615.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*587_*588dupTT | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 588 | chr1 | 144891571 | |||||
| chr1:144891597
|
G | A | 1 | a0006c0005t0006 | 1 | HG01175.hp2 | 3_prime_UTR_variant | MODIFIER | c.*563C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 563 | chr1 | 144891597 | |||||
| chr1:144891624
|
G | C | 1 | a0001c0001t0016 | 1 | HG03831.hp2 | 3_prime_UTR_variant | MODIFIER | c.*536C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 536 | chr1 | 144891624 | |||||
| chr1:144891772
|
A | G | 1 | a0001c0001t0007 | 1 | NA18941.hp2 | 3_prime_UTR_variant | MODIFIER | c.*388T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 388 | chr1 | 144891772 | |||||
| chr1:144891966
|
G | C | 1 | a0001c0001t0017 | 1 | HG02257.hp1 | 3_prime_UTR_variant | MODIFIER | c.*194C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 194 | chr1 | 144891966 | |||||
| chr1:144892033
|
C | G | 1 | a0006c0005t0006 | 1 | HG01175.hp2 | 3_prime_UTR_variant | MODIFIER | c.*127G>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 10/10 | 127 | chr1 | 144892033 | |||||
| chr1:145093175
|
G | A | 1 | a0008c0007t0018 | 1 | HG02615.hp2 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-274C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/10 | chr1 | 145093175 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:144892434
|
G | A | 13 | a0001c0001t0001g0006a0001c0001t0001g0018a0001c0001t0001g0019others(10): Show | 13 | HG00673.hp2 HG01952.hp2 HG01978.hp1 others(10): Show |
intron_variant | MODIFIER | c.1159-53C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 9/9 | chr1 | 144892434 | ||||||
| chr1:144892687
|
G | A | 1 | a0006c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.1159-306C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 9/9 | chr1 | 144892687 | ||||||
| chr1:144893628
|
T | C | 1 | a0001c0001t0001g0033 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.1057-119A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 8/9 | chr1 | 144893628 | ||||||
| chr1:144893979
|
C | A | 2 | a0001c0001t0001g0037a0001c0001t0001g0056 | 2 | HG02523.hp1 NA18959.hp2 |
intron_variant | MODIFIER | c.1057-470G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 8/9 | chr1 | 144893979 | ||||||
| chr1:144893981
|
T | C | 4 | a0001c0001t0003g0022a0006c0005t0006g0053a0007c0006t0014g0007others(1): Show | 4 | HG01175.hp2 HG01952.hp1 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.1057-472A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 8/9 | chr1 | 144893981 | ||||||
| chr1:144893990
|
T | A | 1 | a0007c0006t0014g0007 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1057-481A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 8/9 | chr1 | 144893990 | ||||||
| chr1:144894006
|
C | T | 1 | a0001c0001t0002g0035 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.1057-497G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 8/9 | chr1 | 144894006 | ||||||
| chr1:144894039
|
T | A | 4 | a0003c0003t0004g0054a0003c0003t0004g0055a0006c0005t0006g0053others(1): Show | 4 | HG01175.hp2 HG02615.hp1 HG03490.hp2 others(1): Show |
intron_variant | MODIFIER | c.1057-530A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 8/9 | chr1 | 144894039 | ||||||
| chr1:144894276
|
G | C | 1 | a0007c0006t0014g0007 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1057-767C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 8/9 | chr1 | 144894276 | ||||||
| chr1:144894328
|
G | A | 1 | a0001c0001t0001g0052 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.1057-819C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 8/9 | chr1 | 144894328 | ||||||
| chr1:144894834
|
G | A | 1 | a0001c0001t0001g0033 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.1057-1325C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 8/9 | chr1 | 144894834 | ||||||
| chr1:144895548
|
C | A | 1 | a0001c0001t0001g0052 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.1056+1568G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 8/9 | chr1 | 144895548 | ||||||
| chr1:144895564
|
A | G | 1 | a0001c0001t0003g0022 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.1056+1552T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 8/9 | chr1 | 144895564 | ||||||
| chr1:144895704
|
A | G | 1 | a0006c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.1056+1412T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 8/9 | chr1 | 144895704 | ||||||
| chr1:144896470
|
G | A | 2 | a0006c0005t0006g0053a0008c0007t0018g0001 | 2 | HG01175.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.1056+646C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 8/9 | chr1 | 144896470 | ||||||
| chr1:144896471
|
C | A | 1 | a0001c0001t0003g0022 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.1056+645G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 8/9 | chr1 | 144896471 | ||||||
| chr1:144896979
|
G | T | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.1056+137C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 8/9 | chr1 | 144896979 | ||||||
| chr1:144897655
|
A | G | 2 | a0006c0005t0006g0053a0008c0007t0018g0001 | 2 | HG01175.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.832-315T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144897655 | ||||||
| chr1:144897673
|
G | T | 2 | a0006c0005t0006g0053a0008c0007t0018g0001 | 2 | HG01175.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.832-333C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144897673 | ||||||
| chr1:144897728
|
C | G | 2 | a0006c0005t0006g0053a0008c0007t0018g0001 | 2 | HG01175.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.832-388G>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144897728 | ||||||
| chr1:144898298
|
A | G | 1 | a0007c0006t0014g0007 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.832-958T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144898298 | ||||||
| chr1:144898517
|
C | T | 1 | a0006c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.832-1177G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144898517 | ||||||
| chr1:144898549
|
G | A | 1 | a0001c0001t0009g0046 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.832-1209C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144898549 | ||||||
| chr1:144898555
|
A | G | 1 | a0006c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.832-1215T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144898555 | ||||||
| chr1:144898709
|
C | A | 1 | a0006c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.832-1369G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144898709 | ||||||
| chr1:144898755
|
G | C | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.832-1415C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144898755 | ||||||
| chr1:144898845
|
A | G | 1 | a0001c0001t0016g0038 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.832-1505T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144898845 | ||||||
| chr1:144899165
|
G | A | 1 | a0006c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.832-1825C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144899165 | ||||||
| chr1:144899222
|
G | A | 1 | a0005c0004t0005g0013 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.832-1882C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144899222 | ||||||
| chr1:144899682
|
T | C | 1 | a0006c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.832-2342A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144899682 | ||||||
| chr1:144900030
|
C | T | 1 | a0006c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.832-2690G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144900030 | ||||||
| chr1:144900247
|
C | T | 1 | a0001c0001t0008g0005 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.832-2907G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144900247 | ||||||
| chr1:144900695
|
T | C | 3 | a0001c0001t0009g0046a0006c0005t0006g0053a0008c0007t0018g0001 | 3 | HG01109.hp1 HG01175.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.832-3355A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144900695 | ||||||
| chr1:144901058
|
C | T | 1 | a0006c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.832-3718G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144901058 | ||||||
| chr1:144901661
|
C | T | 4 | a0003c0003t0004g0054a0003c0003t0004g0055a0006c0005t0006g0053others(1): Show | 4 | HG01175.hp2 HG02615.hp2 HG03490.hp2 others(1): Show |
intron_variant | MODIFIER | c.831+3430G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144901661 | ||||||
| chr1:144902679
|
G | T | 1 | a0001c0001t0001g0049 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.831+2412C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144902679 | ||||||
| chr1:144902694
|
G | A | 2 | a0006c0005t0006g0053a0009c0008t0005g0039 | 2 | HG01175.hp2 HG02135.hp1 |
intron_variant | MODIFIER | c.831+2397C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144902694 | ||||||
| chr1:144902740
|
C | T | 1 | a0006c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.831+2351G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144902740 | ||||||
| chr1:144903311
|
T | C | 5 | a0001c0001t0001g0006a0002c0002t0001g0031a0002c0002t0001g0042others(2): Show | 5 | HG00673.hp1 HG02015.hp1 HG02071.hp2 others(2): Show |
intron_variant | MODIFIER | c.831+1780A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144903311 | ||||||
| chr1:144903516
|
G | A | 1 | a0006c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.831+1575C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144903516 | ||||||
| chr1:144903828
|
G | A | 1 | a0006c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.831+1263C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144903828 | ||||||
| chr1:144903830
|
T | A | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.831+1261A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144903830 | ||||||
| chr1:144904004
|
C | T | 2 | a0001c0001t0001g0033a0001c0001t0001g0034 | 2 | NA18946.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.831+1087G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144904004 | ||||||
| chr1:144904112
|
T | C | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.831+979A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144904112 | ||||||
| chr1:144904199
|
G | C | 1 | a0006c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.831+892C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144904199 | ||||||
| chr1:144904628
|
G | A | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.831+463C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144904628 | ||||||
| chr1:144904698
|
C | CA | 29 | a0001c0001t0001g0019a0001c0001t0001g0021a0001c0001t0001g0024others(26): Show | 29 | HG00280.hp1 HG00673.hp1 HG00673.hp2 others(26): Show |
intron_variant | MODIFIER | c.831+392dupT | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144904698 | ||||||
| chr1:144904754
|
G | T | 1 | a0006c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.831+337C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144904754 | ||||||
| chr1:144904956
|
T | A | 28 | a0001c0001t0001g0006a0001c0001t0001g0018a0001c0001t0001g0019others(25): Show | 28 | HG00280.hp1 HG00673.hp2 HG00735.hp2 others(25): Show |
intron_variant | MODIFIER | c.831+135A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144904956 | ||||||
| chr1:144905021
|
A | G | 1 | a0006c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.831+70T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144905021 | ||||||
| chr1:144905034
|
C | G | 1 | a0001c0001t0001g0050 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.831+57G>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 7/9 | chr1 | 144905034 | ||||||
| chr1:144905433
|
T | C | 1 | a0006c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.703-214A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 6/9 | chr1 | 144905433 | ||||||
| chr1:144905664
|
A | T | 1 | a0006c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.702+195T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 6/9 | chr1 | 144905664 | ||||||
| chr1:144905785
|
G | A | 4 | a0003c0003t0004g0054a0003c0003t0004g0055a0006c0005t0006g0053others(1): Show | 4 | HG01175.hp2 HG02615.hp2 HG03490.hp2 others(1): Show |
intron_variant | MODIFIER | c.702+74C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 6/9 | chr1 | 144905785 | ||||||
| chr1:144906120
|
T | G | 1 | a0006c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.487-46A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144906120 | ||||||
| chr1:144906145
|
A | C | 1 | a0006c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.487-71T>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144906145 | ||||||
| chr1:144906207
|
A | G | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.487-133T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144906207 | ||||||
| chr1:144906358
|
C | T | 1 | a0006c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.487-284G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144906358 | ||||||
| chr1:144906580
|
T | C | 1 | a0006c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.487-506A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144906580 | ||||||
| chr1:144906684
|
C | T | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.487-610G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144906684 | ||||||
| chr1:144906865
|
C | T | 1 | a0001c0001t0016g0038 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.487-791G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144906865 | ||||||
| chr1:144906997
|
C | T | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.487-923G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144906997 | ||||||
| chr1:144907138
|
C | CGT | 2 | a0001c0001t0001g0018a0001c0001t0009g0046 | 2 | HG01109.hp1 HG02083.hp1 |
intron_variant | MODIFIER | c.487-1066_487-1065d others(4): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144907138 | ||||||
| chr1:144907138
|
CGT | C | 3 | a0001c0001t0001g0019a0003c0003t0004g0054a0003c0003t0004g0055 | 3 | HG01952.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.487-1066_487-1065d others(4): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144907138 | ||||||
| chr1:144907164
|
CATGTGTG others(3): Show |
C | 1 | a0001c0001t0002g0017 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.487-1100_487-1091d others(12): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144907164 | ||||||
| chr1:144907378
|
A | G | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.487-1304T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144907378 | ||||||
| chr1:144907539
|
G | A | 1 | a0006c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.487-1465C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144907539 | ||||||
| chr1:144907580
|
A | G | 1 | a0006c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.487-1506T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144907580 | ||||||
| chr1:144907719
|
T | C | 1 | a0006c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.487-1645A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144907719 | ||||||
| chr1:144908220
|
G | T | 1 | a0006c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.487-2146C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144908220 | ||||||
| chr1:144908307
|
A | G | 2 | a0006c0005t0006g0053a0007c0006t0014g0007 | 2 | HG01175.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.487-2233T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144908307 | ||||||
| chr1:144908439
|
G | A | 14 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0026others(11): Show | 14 | HG00280.hp2 HG00673.hp1 HG00735.hp1 others(11): Show |
intron_variant | MODIFIER | c.487-2365C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144908439 | ||||||
| chr1:144908613
|
C | T | 1 | a0001c0001t0017g0043 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.487-2539G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144908613 | ||||||
| chr1:144908642
|
A | C | 1 | a0006c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.487-2568T>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144908642 | ||||||
| chr1:144908787
|
T | G | 1 | a0006c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.487-2713A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144908787 | ||||||
| chr1:144908940
|
G | C | 1 | a0001c0001t0001g0019 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.487-2866C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144908940 | ||||||
| chr1:144909077
|
C | A | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.487-3003G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144909077 | ||||||
| chr1:144909144
|
G | A | 1 | a0006c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.487-3070C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144909144 | ||||||
| chr1:144909189
|
C | T | 1 | a0006c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.487-3115G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144909189 | ||||||
| chr1:144911135
|
G | C | 12 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0021others(9): Show | 12 | HG00673.hp2 HG01952.hp2 HG01978.hp1 others(9): Show |
intron_variant | MODIFIER | c.486+3557C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144911135 | ||||||
| chr1:144912013
|
C | T | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.486+2679G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144912013 | ||||||
| chr1:144912117
|
T | A | 1 | a0001c0001t0001g0033 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.486+2575A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144912117 | ||||||
| chr1:144912603
|
C | A | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.486+2089G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144912603 | ||||||
| chr1:144912691
|
T | A | 5 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0008others(2): Show | 5 | HG01258.hp2 HG02129.hp2 HG02135.hp1 others(2): Show |
intron_variant | MODIFIER | c.486+2001A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144912691 | ||||||
| chr1:144912779
|
T | G | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.486+1913A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 5/9 | chr1 | 144912779 | ||||||
| chr1:144915304
|
T | C | 5 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0008others(2): Show | 5 | HG01258.hp2 HG02129.hp2 HG02135.hp1 others(2): Show |
intron_variant | MODIFIER | c.424-550A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144915304 | ||||||
| chr1:144915437
|
C | G | 1 | a0001c0001t0002g0008 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.424-683G>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144915437 | ||||||
| chr1:144915517
|
G | T | 1 | a0001c0001t0001g0018 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.424-763C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144915517 | ||||||
| chr1:144915682
|
C | T | 1 | a0001c0001t0001g0036 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.424-928G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144915682 | ||||||
| chr1:144916077
|
T | C | 1 | a0001c0001t0001g0020 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.424-1323A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144916077 | ||||||
| chr1:144916182
|
A | T | 1 | a0002c0002t0010g0023 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.424-1428T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144916182 | ||||||
| chr1:144916740
|
T | C | 15 | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0015others(12): Show | 15 | HG00280.hp2 HG00673.hp1 HG00735.hp1 others(12): Show |
intron_variant | MODIFIER | c.424-1986A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144916740 | ||||||
| chr1:144916764
|
C | T | 1 | a0007c0006t0014g0007 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.424-2010G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144916764 | ||||||
| chr1:144917129
|
G | A | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.424-2375C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144917129 | ||||||
| chr1:144917365
|
T | G | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.424-2611A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144917365 | ||||||
| chr1:144917626
|
G | T | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.424-2872C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144917626 | ||||||
| chr1:144917917
|
G | A | 1 | a0001c0001t0001g0018 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.424-3163C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144917917 | ||||||
| chr1:144918276
|
G | GA | 4 | a0001c0001t0001g0009a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 4 | HG02615.hp2 HG03490.hp2 HG03492.hp1 others(1): Show |
intron_variant | MODIFIER | c.424-3523dupT | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144918276 | ||||||
| chr1:144919669
|
G | A | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.424-4915C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144919669 | ||||||
| chr1:144920972
|
A | G | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.424-6218T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144920972 | ||||||
| chr1:144921171
|
T | C | 1 | a0001c0001t0001g0034 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.424-6417A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144921171 | ||||||
| chr1:144921269
|
CA | C | 37 | a0001c0001t0001g0006a0001c0001t0001g0015a0001c0001t0001g0018others(34): Show | 37 | HG00673.hp1 HG00673.hp2 HG00735.hp1 others(34): Show |
intron_variant | MODIFIER | c.424-6516delT | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144921269 | ||||||
| chr1:144921269
|
CAAAAAAA others(7): Show |
C | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.424-6529_424-6516d others(16): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144921269 | ||||||
| chr1:144921960
|
C | A | 1 | a0001c0001t0001g0036 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.424-7206G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144921960 | ||||||
| chr1:144922708
|
G | A | 3 | a0001c0001t0012g0051a0003c0003t0004g0054a0003c0003t0004g0055 | 3 | HG03490.hp2 HG03492.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.424-7954C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144922708 | ||||||
| chr1:144922858
|
C | T | 1 | a0001c0001t0001g0044 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.424-8104G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144922858 | ||||||
| chr1:144924731
|
C | CA | 8 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0019others(5): Show | 8 | HG01258.hp1 HG01952.hp1 HG01952.hp2 others(5): Show |
intron_variant | MODIFIER | c.424-9978dupT | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144924731 | ||||||
| chr1:144924887
|
A | G | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.424-10133T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144924887 | ||||||
| chr1:144925035
|
A | G | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.424-10281T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144925035 | ||||||
| chr1:144925162
|
C | A | 1 | a0001c0001t0001g0021 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.424-10408G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144925162 | ||||||
| chr1:144925224
|
C | T | 5 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0008others(2): Show | 5 | HG01258.hp2 HG02129.hp2 HG02135.hp1 others(2): Show |
intron_variant | MODIFIER | c.424-10470G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144925224 | ||||||
| chr1:144925549
|
T | C | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.424-10795A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144925549 | ||||||
| chr1:144925693
|
G | A | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.424-10939C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144925693 | ||||||
| chr1:144925708
|
A | G | 1 | a0001c0001t0013g0025 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.424-10954T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144925708 | ||||||
| chr1:144925720
|
G | A | 1 | a0001c0001t0001g0026 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.424-10966C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144925720 | ||||||
| chr1:144925723
|
AAAGAAAA others(5): Show |
A | 1 | a0001c0001t0001g0026 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.424-10981_424-1097 others(16): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144925723 | ||||||
| chr1:144925727
|
A | AAAAG | 7 | a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0044others(4): Show | 7 | HG00280.hp2 HG00735.hp2 HG01109.hp1 others(4): Show |
intron_variant | MODIFIER | c.424-10977_424-1097 others(8): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144925727 | ||||||
| chr1:144925727
|
A | AAAAGAAA others(1): Show |
13 | a0001c0001t0001g0006a0001c0001t0001g0024a0001c0001t0001g0041others(10): Show | 13 | HG00280.hp1 HG01175.hp2 HG01978.hp2 others(10): Show |
intron_variant | MODIFIER | c.424-10981_424-1097 others(12): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144925727 | ||||||
| chr1:144925727
|
A | AAAAGAAA others(5): Show |
1 | a0009c0008t0005g0039 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.424-10985_424-1097 others(16): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144925727 | ||||||
| chr1:144925727
|
A | AAAG | 2 | a0001c0001t0013g0025a0001c0001t0017g0043 | 2 | HG01346.hp2 HG02257.hp1 |
intron_variant | MODIFIER | c.424-10974_424-1097 others(7): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144925727 | ||||||
| chr1:144925727
|
AAAAG | A | 15 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0021others(12): Show | 15 | HG00673.hp2 HG00735.hp1 HG01258.hp2 others(12): Show |
intron_variant | MODIFIER | c.424-10977_424-1097 others(8): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144925727 | ||||||
| chr1:144925727
|
AAAAGAAA others(1): Show |
A | 2 | a0001c0001t0001g0036a0001c0001t0003g0022 | 2 | HG01952.hp1 HG02071.hp1 |
intron_variant | MODIFIER | c.424-10981_424-1097 others(12): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144925727 | ||||||
| chr1:144925900
|
T | C | 4 | a0001c0001t0001g0027a0001c0001t0001g0029a0001c0001t0001g0030others(1): Show | 4 | HG00280.hp2 HG00735.hp1 HG01099.hp2 others(1): Show |
intron_variant | MODIFIER | c.424-11146A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144925900 | ||||||
| chr1:144926023
|
T | A | 1 | a0001c0001t0001g0021 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.424-11269A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144926023 | ||||||
| chr1:144926151
|
A | G | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.424-11397T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144926151 | ||||||
| chr1:144926972
|
C | T | 1 | a0005c0004t0005g0013 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.424-12218G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144926972 | ||||||
| chr1:144927589
|
T | C | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.424-12835A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144927589 | ||||||
| chr1:144927990
|
G | A | 1 | a0001c0001t0002g0003 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.424-13236C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144927990 | ||||||
| chr1:144928242
|
C | T | 1 | a0001c0001t0003g0022 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.424-13488G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144928242 | ||||||
| chr1:144928404
|
GTTAT | G | 15 | a0001c0001t0001g0006a0001c0001t0001g0024a0001c0001t0001g0034others(12): Show | 15 | HG01099.hp1 HG01952.hp1 HG02015.hp1 others(12): Show |
intron_variant | MODIFIER | c.424-13654_424-1365 others(8): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144928404 | ||||||
| chr1:144928404
|
GTTATTTA others(1): Show |
G | 16 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0026others(13): Show | 16 | HG00280.hp2 HG00673.hp1 HG00735.hp1 others(13): Show |
intron_variant | MODIFIER | c.424-13658_424-1365 others(12): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144928404 | ||||||
| chr1:144928404
|
GTTATTTA others(5): Show |
G | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.424-13662_424-1365 others(16): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144928404 | ||||||
| chr1:144930800
|
C | T | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.424-16046G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144930800 | ||||||
| chr1:144930867
|
A | G | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.424-16113T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144930867 | ||||||
| chr1:144931255
|
C | T | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.424-16501G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144931255 | ||||||
| chr1:144931517
|
T | A | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.424-16763A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144931517 | ||||||
| chr1:144931651
|
C | T | 2 | a0001c0001t0001g0040a0001c0001t0012g0051 | 2 | HG01099.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.424-16897G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144931651 | ||||||
| chr1:144931898
|
T | C | 2 | a0001c0001t0001g0020a0001c0001t0017g0043 | 2 | HG01175.hp1 HG02257.hp1 |
intron_variant | MODIFIER | c.424-17144A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144931898 | ||||||
| chr1:144931937
|
T | C | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.424-17183A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144931937 | ||||||
| chr1:144932364
|
T | C | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.424-17610A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144932364 | ||||||
| chr1:144932416
|
G | C | 1 | a0007c0006t0014g0007 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.424-17662C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144932416 | ||||||
| chr1:144932662
|
T | A | 7 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0044others(4): Show | 7 | HG00280.hp1 HG00735.hp2 HG01099.hp1 others(4): Show |
intron_variant | MODIFIER | c.424-17908A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144932662 | ||||||
| chr1:144932977
|
G | A | 1 | a0001c0001t0001g0049 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.424-18223C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144932977 | ||||||
| chr1:144933479
|
G | A | 2 | a0001c0001t0001g0009a0001c0001t0001g0015 | 2 | HG02602.hp2 HG03669.hp2 |
intron_variant | MODIFIER | c.424-18725C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144933479 | ||||||
| chr1:144933582
|
C | A | 2 | a0001c0001t0001g0009a0001c0001t0001g0015 | 2 | HG02602.hp2 HG03669.hp2 |
intron_variant | MODIFIER | c.424-18828G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144933582 | ||||||
| chr1:144933791
|
G | A | 7 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0044others(4): Show | 7 | HG00280.hp1 HG00735.hp2 HG01099.hp1 others(4): Show |
intron_variant | MODIFIER | c.424-19037C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144933791 | ||||||
| chr1:144934099
|
G | A | 1 | a0001c0001t0001g0045 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.424-19345C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144934099 | ||||||
| chr1:144934953
|
G | A | 1 | a0001c0001t0001g0032 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.424-20199C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144934953 | ||||||
| chr1:144935541
|
G | T | 1 | a0001c0001t0003g0016 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.423+19898C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144935541 | ||||||
| chr1:144935922
|
A | C | 4 | a0001c0001t0008g0005a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 4 | HG02257.hp2 HG02615.hp2 HG03490.hp2 others(1): Show |
intron_variant | MODIFIER | c.423+19517T>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144935922 | ||||||
| chr1:144936100
|
T | C | 1 | a0001c0001t0008g0005 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.423+19339A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144936100 | ||||||
| chr1:144936242
|
G | T | 1 | a0001c0001t0007g0011 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.423+19197C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144936242 | ||||||
| chr1:144936947
|
C | T | 1 | a0007c0006t0014g0007 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.423+18492G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144936947 | ||||||
| chr1:144938026
|
G | A | 1 | a0001c0001t0001g0009 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.423+17413C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144938026 | ||||||
| chr1:144938711
|
G | C | 1 | a0001c0001t0013g0025 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.423+16728C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144938711 | ||||||
| chr1:144938790
|
G | A | 1 | a0001c0001t0015g0010 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.423+16649C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144938790 | ||||||
| chr1:144939339
|
A | C | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.423+16100T>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144939339 | ||||||
| chr1:144939382
|
A | G | 1 | a0001c0001t0012g0051 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.423+16057T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144939382 | ||||||
| chr1:144940431
|
C | T | 15 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0026others(12): Show | 15 | HG00280.hp2 HG00673.hp1 HG00735.hp1 others(12): Show |
intron_variant | MODIFIER | c.423+15008G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144940431 | ||||||
| chr1:144940580
|
C | G | 1 | a0001c0001t0008g0005 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.423+14859G>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144940580 | ||||||
| chr1:144940728
|
G | A | 1 | a0001c0001t0001g0009 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.423+14711C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144940728 | ||||||
| chr1:144940751
|
C | G | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.423+14688G>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144940751 | ||||||
| chr1:144940821
|
C | T | 1 | a0001c0001t0001g0045 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.423+14618G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144940821 | ||||||
| chr1:144941804
|
T | C | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.423+13635A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144941804 | ||||||
| chr1:144943095
|
G | A | 1 | a0001c0001t0001g0052 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.423+12344C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144943095 | ||||||
| chr1:144943550
|
G | A | 1 | a0001c0001t0002g0008 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.423+11889C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144943550 | ||||||
| chr1:144944586
|
C | CA | 15 | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0015others(12): Show | 15 | HG00735.hp1 HG00735.hp2 HG01109.hp1 others(12): Show |
intron_variant | MODIFIER | c.423+10852dupT | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144944586 | ||||||
| chr1:144944683
|
T | TTTTA | 2 | a0001c0001t0001g0044a0007c0006t0014g0007 | 2 | HG00735.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.423+10752_423+1075 others(8): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144944683 | ||||||
| chr1:144944683
|
TTTTA | T | 34 | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0015others(31): Show | 34 | HG00280.hp2 HG00673.hp1 HG00673.hp2 others(31): Show |
intron_variant | MODIFIER | c.423+10752_423+1075 others(8): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144944683 | ||||||
| chr1:144944683
|
TTTTATTT others(1): Show |
T | 5 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0008others(2): Show | 5 | HG01258.hp2 HG02129.hp2 HG02135.hp1 others(2): Show |
intron_variant | MODIFIER | c.423+10748_423+1075 others(12): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144944683 | ||||||
| chr1:144944804
|
T | C | 55 | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0015others(52): Show | 55 | HG00280.hp1 HG00280.hp2 HG00673.hp1 others(52): Show |
intron_variant | MODIFIER | c.423+10635A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144944804 | ||||||
| chr1:144945590
|
AAAAC | A | 5 | a0001c0001t0001g0032a0001c0001t0001g0036a0001c0001t0001g0041others(2): Show | 5 | HG00280.hp1 HG00280.hp2 HG00735.hp2 others(2): Show |
intron_variant | MODIFIER | c.423+9845_423+9848d others(6): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144945590 | ||||||
| chr1:144945841
|
G | C | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.423+9598C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144945841 | ||||||
| chr1:144945842
|
A | T | 2 | a0001c0001t0002g0002a0001c0001t0002g0035 | 2 | HG02602.hp1 HG03831.hp1 |
intron_variant | MODIFIER | c.423+9597T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144945842 | ||||||
| chr1:144946726
|
G | A | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.423+8713C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144946726 | ||||||
| chr1:144946758
|
T | A | 1 | a0001c0001t0002g0004 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.423+8681A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144946758 | ||||||
| chr1:144947007
|
A | C | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.423+8432T>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144947007 | ||||||
| chr1:144947447
|
A | C | 2 | a0001c0001t0001g0033a0001c0001t0001g0034 | 2 | NA18946.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.423+7992T>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144947447 | ||||||
| chr1:144948442
|
C | T | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.423+6997G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144948442 | ||||||
| chr1:144948909
|
C | CT | 4 | a0001c0001t0002g0017a0001c0001t0007g0011a0001c0001t0015g0010others(1): Show | 4 | HG01346.hp1 HG02071.hp2 HG02129.hp2 others(1): Show |
intron_variant | MODIFIER | c.423+6529dupA | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144948909 | ||||||
| chr1:144949199
|
A | G | 1 | a0001c0001t0002g0003 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.423+6240T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144949199 | ||||||
| chr1:144949785
|
C | T | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.423+5654G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144949785 | ||||||
| chr1:144950128
|
T | C | 43 | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0015others(40): Show | 43 | HG00280.hp1 HG00280.hp2 HG00673.hp1 others(40): Show |
intron_variant | MODIFIER | c.423+5311A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144950128 | ||||||
| chr1:144950430
|
C | T | 1 | a0001c0001t0007g0011 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.423+5009G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144950430 | ||||||
| chr1:144950585
|
A | T | 1 | a0001c0001t0001g0026 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.423+4854T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144950585 | ||||||
| chr1:144950781
|
T | C | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.423+4658A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144950781 | ||||||
| chr1:144950862
|
T | C | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.423+4577A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144950862 | ||||||
| chr1:144952092
|
C | G | 1 | a0001c0001t0002g0017 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.423+3347G>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144952092 | ||||||
| chr1:144952108
|
A | T | 43 | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0015others(40): Show | 43 | HG00280.hp1 HG00280.hp2 HG00673.hp1 others(40): Show |
intron_variant | MODIFIER | c.423+3331T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144952108 | ||||||
| chr1:144952805
|
AACTTTTA others(20): Show |
A | 1 | a0001c0001t0001g0049 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.423+2607_423+2633d others(29): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144952805 | ||||||
| chr1:144952834
|
C | G | 1 | a0001c0001t0001g0049 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.423+2605G>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144952834 | ||||||
| chr1:144952945
|
A | G | 1 | a0001c0001t0001g0041 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.423+2494T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144952945 | ||||||
| chr1:144953018
|
A | G | 1 | a0001c0001t0001g0036 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.423+2421T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144953018 | ||||||
| chr1:144953415
|
T | A | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.423+2024A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144953415 | ||||||
| chr1:144953575
|
C | T | 1 | a0001c0001t0002g0017 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.423+1864G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144953575 | ||||||
| chr1:144953859
|
A | G | 1 | a0001c0001t0007g0011 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.423+1580T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144953859 | ||||||
| chr1:144953904
|
T | C | 1 | a0001c0001t0001g0047 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.423+1535A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144953904 | ||||||
| chr1:144954174
|
G | A | 5 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0008others(2): Show | 5 | HG01258.hp2 HG02129.hp2 HG02135.hp1 others(2): Show |
intron_variant | MODIFIER | c.423+1265C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144954174 | ||||||
| chr1:144954260
|
C | G | 1 | a0007c0006t0014g0007 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.423+1179G>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144954260 | ||||||
| chr1:144954811
|
G | A | 1 | a0001c0001t0001g0040 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.423+628C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144954811 | ||||||
| chr1:144954948
|
C | A | 1 | a0001c0001t0001g0047 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.423+491G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144954948 | ||||||
| chr1:144955398
|
T | C | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.423+41A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | 144955398 | ||||||
| chr1:144956166
|
C | A | 1 | a0001c0001t0001g0049 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.261-565G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144956166 | ||||||
| chr1:144956439
|
C | CT | 17 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0020others(14): Show | 17 | HG00280.hp1 HG00735.hp1 HG00735.hp2 others(14): Show |
intron_variant | MODIFIER | c.261-839dupA | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144956439 | ||||||
| chr1:144956870
|
A | G | 1 | a0001c0001t0016g0038 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.261-1269T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144956870 | ||||||
| chr1:144957328
|
T | C | 1 | a0001c0001t0001g0048 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.261-1727A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144957328 | ||||||
| chr1:144957654
|
GA | G | 6 | a0001c0001t0001g0021a0001c0001t0001g0037a0001c0001t0001g0047others(3): Show | 6 | HG01978.hp1 HG02135.hp2 HG02523.hp1 others(3): Show |
intron_variant | MODIFIER | c.261-2054delT | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144957654 | ||||||
| chr1:144957742
|
C | T | 1 | a0001c0001t0001g0026 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.261-2141G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144957742 | ||||||
| chr1:144957945
|
A | G | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-2344T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144957945 | ||||||
| chr1:144957946
|
T | C | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.261-2345A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144957946 | ||||||
| chr1:144958795
|
G | A | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.261-3194C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144958795 | ||||||
| chr1:144960093
|
T | C | 1 | a0002c0002t0010g0023 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.261-4492A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144960093 | ||||||
| chr1:144961476
|
T | C | 1 | a0001c0001t0001g0044 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.261-5875A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144961476 | ||||||
| chr1:144961799
|
T | C | 1 | a0001c0001t0001g0045 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.261-6198A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144961799 | ||||||
| chr1:144961938
|
A | G | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.261-6337T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144961938 | ||||||
| chr1:144962679
|
T | C | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-7078A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144962679 | ||||||
| chr1:144962844
|
C | T | 1 | a0007c0006t0014g0007 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.261-7243G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144962844 | ||||||
| chr1:144963006
|
C | T | 14 | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0015others(11): Show | 14 | HG00280.hp2 HG00673.hp1 HG00735.hp1 others(11): Show |
intron_variant | MODIFIER | c.261-7405G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144963006 | ||||||
| chr1:144963024
|
T | G | 1 | a0004c0009t0003g0014 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.261-7423A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144963024 | ||||||
| chr1:144963161
|
T | C | 1 | a0001c0001t0001g0048 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.261-7560A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144963161 | ||||||
| chr1:144964374
|
T | C | 1 | a0001c0001t0001g0021 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.261-8773A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144964374 | ||||||
| chr1:144965001
|
G | A | 1 | a0001c0001t0003g0016 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.261-9400C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144965001 | ||||||
| chr1:144965394
|
C | T | 1 | a0001c0001t0002g0017 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.261-9793G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144965394 | ||||||
| chr1:144965405
|
T | A | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.261-9804A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144965405 | ||||||
| chr1:144965520
|
G | T | 1 | a0001c0001t0001g0019 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.261-9919C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144965520 | ||||||
| chr1:144965527
|
T | A | 4 | a0001c0001t0001g0019a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 4 | HG01952.hp2 HG02615.hp2 HG03490.hp2 others(1): Show |
intron_variant | MODIFIER | c.261-9926A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144965527 | ||||||
| chr1:144965591
|
C | T | 1 | a0001c0001t0009g0046 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.261-9990G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144965591 | ||||||
| chr1:144965621
|
C | T | 22 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0020others(19): Show | 22 | HG00280.hp1 HG00673.hp2 HG00735.hp2 others(19): Show |
intron_variant | MODIFIER | c.261-10020G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144965621 | ||||||
| chr1:144965622
|
G | T | 1 | a0007c0006t0014g0007 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.261-10021C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144965622 | ||||||
| chr1:144965698
|
T | C | 43 | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0015others(40): Show | 43 | HG00280.hp1 HG00280.hp2 HG00673.hp1 others(40): Show |
intron_variant | MODIFIER | c.261-10097A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144965698 | ||||||
| chr1:144965834
|
G | A | 14 | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0015others(11): Show | 14 | HG00280.hp2 HG00673.hp1 HG00735.hp1 others(11): Show |
intron_variant | MODIFIER | c.261-10233C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144965834 | ||||||
| chr1:144966175
|
A | G | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-10574T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144966175 | ||||||
| chr1:144966197
|
A | G | 1 | a0001c0001t0001g0034 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.261-10596T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144966197 | ||||||
| chr1:144966296
|
G | A | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-10695C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144966296 | ||||||
| chr1:144966492
|
T | C | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-10891A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144966492 | ||||||
| chr1:144966526
|
A | G | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-10925T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144966526 | ||||||
| chr1:144966535
|
A | T | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-10934T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144966535 | ||||||
| chr1:144966542
|
C | A | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-10941G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144966542 | ||||||
| chr1:144966545
|
T | A | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-10944A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144966545 | ||||||
| chr1:144966552
|
C | G | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-10951G>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144966552 | ||||||
| chr1:144966561
|
T | G | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-10960A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144966561 | ||||||
| chr1:144966562
|
G | A | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-10961C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144966562 | ||||||
| chr1:144966587
|
T | C | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-10986A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144966587 | ||||||
| chr1:144966590
|
A | G | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-10989T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144966590 | ||||||
| chr1:144966597
|
A | C | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-10996T>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144966597 | ||||||
| chr1:144966598
|
G | A | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-10997C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144966598 | ||||||
| chr1:144966640
|
A | G | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-11039T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144966640 | ||||||
| chr1:144966648
|
C | T | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-11047G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144966648 | ||||||
| chr1:144966649
|
C | T | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-11048G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144966649 | ||||||
| chr1:144966664
|
G | A | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-11063C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144966664 | ||||||
| chr1:144966671
|
G | T | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-11070C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144966671 | ||||||
| chr1:144966698
|
A | AG | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-11098_261-1109 others(5): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144966698 | ||||||
| chr1:144966699
|
A | T | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-11098T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144966699 | ||||||
| chr1:144967231
|
G | A | 1 | a0001c0001t0007g0011 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.261-11630C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144967231 | ||||||
| chr1:144967404
|
C | T | 1 | a0007c0006t0014g0007 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.261-11803G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144967404 | ||||||
| chr1:144967449
|
C | G | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-11848G>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144967449 | ||||||
| chr1:144968434
|
A | T | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.261-12833T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144968434 | ||||||
| chr1:144968639
|
C | T | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.261-13038G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144968639 | ||||||
| chr1:144969339
|
A | G | 4 | a0001c0001t0008g0005a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 4 | HG02257.hp2 HG02615.hp2 HG03490.hp2 others(1): Show |
intron_variant | MODIFIER | c.261-13738T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144969339 | ||||||
| chr1:144970215
|
T | C | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.261-14614A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144970215 | ||||||
| chr1:144970270
|
G | A | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.261-14669C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144970270 | ||||||
| chr1:144970382
|
T | A | 1 | a0001c0001t0015g0010 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.261-14781A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144970382 | ||||||
| chr1:144970503
|
G | C | 1 | a0001c0001t0001g0040 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.261-14902C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144970503 | ||||||
| chr1:144970645
|
T | TA | 53 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0018others(50): Show | 53 | HG00280.hp1 HG00280.hp2 HG00673.hp1 others(50): Show |
intron_variant | MODIFIER | c.261-15045dupT | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144970645 | ||||||
| chr1:144971092
|
A | C | 1 | a0001c0001t0001g0049 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.261-15491T>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144971092 | ||||||
| chr1:144971379
|
C | T | 1 | a0001c0001t0001g0033 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.261-15778G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144971379 | ||||||
| chr1:144971650
|
C | G | 1 | a0001c0001t0008g0005 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.261-16049G>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144971650 | ||||||
| chr1:144971833
|
A | G | 1 | a0001c0001t0003g0022 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.261-16232T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144971833 | ||||||
| chr1:144972607
|
G | A | 1 | a0001c0001t0001g0006 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.261-17006C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144972607 | ||||||
| chr1:144973248
|
G | A | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-17647C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144973248 | ||||||
| chr1:144973792
|
G | C | 1 | a0001c0001t0007g0011 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.261-18191C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144973792 | ||||||
| chr1:144974218
|
T | C | 5 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0008others(2): Show | 5 | HG01258.hp2 HG02129.hp2 HG02135.hp1 others(2): Show |
intron_variant | MODIFIER | c.261-18617A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144974218 | ||||||
| chr1:144974548
|
A | G | 1 | a0001c0001t0013g0025 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.261-18947T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144974548 | ||||||
| chr1:144974861
|
A | AGATGCTG others(5): Show |
2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-19272_261-1926 others(16): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144974861 | ||||||
| chr1:144975025
|
T | C | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-19424A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144975025 | ||||||
| chr1:144975296
|
A | G | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.261-19695T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144975296 | ||||||
| chr1:144975868
|
CT | C | 48 | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0015others(45): Show | 48 | HG00280.hp1 HG00280.hp2 HG00673.hp1 others(45): Show |
intron_variant | MODIFIER | c.260+19139delA | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144975868 | ||||||
| chr1:144976176
|
A | G | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.260+18832T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144976176 | ||||||
| chr1:144976645
|
C | A | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.260+18363G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144976645 | ||||||
| chr1:144977360
|
G | T | 1 | a0001c0001t0001g0045 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.260+17648C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144977360 | ||||||
| chr1:144977504
|
C | T | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.260+17504G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144977504 | ||||||
| chr1:144977510
|
C | T | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.260+17498G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144977510 | ||||||
| chr1:144977531
|
G | A | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.260+17477C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144977531 | ||||||
| chr1:144978344
|
G | A | 1 | a0001c0001t0009g0046 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.260+16664C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144978344 | ||||||
| chr1:144978371
|
G | A | 1 | a0001c0001t0002g0004 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.260+16637C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144978371 | ||||||
| chr1:144978808
|
G | A | 1 | a0001c0001t0017g0043 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.260+16200C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144978808 | ||||||
| chr1:144979165
|
C | T | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.260+15843G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144979165 | ||||||
| chr1:144979357
|
G | A | 1 | a0001c0001t0013g0025 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.260+15651C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144979357 | ||||||
| chr1:144979433
|
G | A | 1 | a0001c0001t0001g0034 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.260+15575C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144979433 | ||||||
| chr1:144979696
|
C | T | 1 | a0001c0001t0001g0049 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.260+15312G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144979696 | ||||||
| chr1:144979707
|
G | A | 1 | a0001c0001t0012g0051 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.260+15301C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144979707 | ||||||
| chr1:144980988
|
A | G | 1 | a0001c0001t0001g0047 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.260+14020T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144980988 | ||||||
| chr1:144981148
|
G | A | 1 | a0001c0001t0009g0046 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.260+13860C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144981148 | ||||||
| chr1:144981704
|
T | C | 14 | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0015others(11): Show | 14 | HG00280.hp2 HG00673.hp1 HG00735.hp1 others(11): Show |
intron_variant | MODIFIER | c.260+13304A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144981704 | ||||||
| chr1:144981722
|
T | C | 14 | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0015others(11): Show | 14 | HG00280.hp2 HG00673.hp1 HG00735.hp1 others(11): Show |
intron_variant | MODIFIER | c.260+13286A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144981722 | ||||||
| chr1:144981802
|
G | A | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.260+13206C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144981802 | ||||||
| chr1:144983089
|
T | C | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.260+11919A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144983089 | ||||||
| chr1:144983255
|
T | A | 1 | a0001c0001t0001g0049 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.260+11753A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144983255 | ||||||
| chr1:144984116
|
C | T | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.260+10892G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144984116 | ||||||
| chr1:144984332
|
A | AAAC | 18 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0021others(15): Show | 18 | HG00673.hp2 HG01099.hp1 HG01346.hp1 others(15): Show |
intron_variant | MODIFIER | c.260+10673_260+1067 others(7): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144984332 | ||||||
| chr1:144984332
|
A | AAACAAC | 3 | a0001c0001t0002g0004a0001c0001t0007g0011a0001c0001t0017g0043 | 3 | HG02257.hp1 NA18941.hp1 NA18941.hp2 |
intron_variant | MODIFIER | c.260+10670_260+1067 others(10): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144984332 | ||||||
| chr1:144984362
|
C | CAAA | 3 | a0001c0001t0001g0006a0001c0001t0001g0032a0001c0001t0001g0036 | 3 | HG00280.hp2 HG02071.hp1 HG02129.hp1 |
intron_variant | MODIFIER | c.260+10645_260+1064 others(7): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144984362 | ||||||
| chr1:144984362
|
CAACAAAA others(4): Show |
C | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.260+10635_260+1064 others(15): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144984362 | ||||||
| chr1:144984365
|
C | A | 3 | a0001c0001t0001g0006a0001c0001t0001g0032a0001c0001t0001g0036 | 3 | HG00280.hp2 HG02071.hp1 HG02129.hp1 |
intron_variant | MODIFIER | c.260+10643G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144984365 | ||||||
| chr1:144984365
|
C | CAAA | 15 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0020others(12): Show | 15 | HG00735.hp1 HG01099.hp2 HG01109.hp2 others(12): Show |
intron_variant | MODIFIER | c.260+10640_260+1064 others(7): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144984365 | ||||||
| chr1:144984365
|
C | CAAAA | 4 | a0001c0001t0001g0041a0001c0001t0001g0044a0001c0001t0001g0050others(1): Show | 4 | HG00280.hp1 HG00735.hp2 HG01978.hp2 others(1): Show |
intron_variant | MODIFIER | c.260+10639_260+1064 others(8): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144984365 | ||||||
| chr1:144984367
|
A | ACAAC | 2 | a0001c0001t0001g0052a0001c0001t0008g0005 | 2 | HG02257.hp2 HG03669.hp1 |
intron_variant | MODIFIER | c.260+10640_260+1064 others(8): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144984367 | ||||||
| chr1:144984368
|
A | C | 4 | a0001c0001t0001g0049a0001c0001t0003g0022a0003c0003t0004g0054others(1): Show | 4 | HG01952.hp1 HG02523.hp2 HG03490.hp2 others(1): Show |
intron_variant | MODIFIER | c.260+10640T>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144984368 | ||||||
| chr1:144985596
|
G | T | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.260+9412C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144985596 | ||||||
| chr1:144987351
|
T | G | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.260+7657A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144987351 | ||||||
| chr1:144987890
|
G | T | 1 | a0001c0001t0001g0034 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.260+7118C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144987890 | ||||||
| chr1:144988323
|
A | G | 1 | a0002c0002t0011g0028 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.260+6685T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144988323 | ||||||
| chr1:144988651
|
T | C | 1 | a0001c0001t0003g0016 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.260+6357A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144988651 | ||||||
| chr1:144988999
|
CT | C | 29 | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0015others(26): Show | 29 | HG00673.hp1 HG00735.hp1 HG00735.hp2 others(26): Show |
intron_variant | MODIFIER | c.260+6008delA | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144988999 | ||||||
| chr1:144988999
|
CTT | C | 24 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(21): Show | 24 | HG00280.hp1 HG00280.hp2 HG00673.hp2 others(21): Show |
intron_variant | MODIFIER | c.260+6007_260+6008d others(4): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144988999 | ||||||
| chr1:144989360
|
G | A | 1 | a0001c0001t0008g0005 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.260+5648C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144989360 | ||||||
| chr1:144990691
|
G | A | 1 | a0001c0001t0001g0034 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.260+4317C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144990691 | ||||||
| chr1:144990884
|
C | T | 1 | a0001c0001t0001g0033 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.260+4124G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144990884 | ||||||
| chr1:144991075
|
C | T | 2 | a0001c0001t0001g0020a0001c0001t0017g0043 | 2 | HG01175.hp1 HG02257.hp1 |
intron_variant | MODIFIER | c.260+3933G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144991075 | ||||||
| chr1:144991517
|
A | G | 2 | a0001c0001t0001g0026a0006c0005t0006g0053 | 2 | HG01175.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.260+3491T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144991517 | ||||||
| chr1:144992177
|
A | T | 1 | a0001c0001t0001g0047 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.260+2831T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144992177 | ||||||
| chr1:144992718
|
C | T | 1 | a0001c0001t0001g0036 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.260+2290G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144992718 | ||||||
| chr1:144992940
|
A | T | 1 | a0001c0001t0001g0034 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.260+2068T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144992940 | ||||||
| chr1:144993153
|
G | A | 1 | a0001c0001t0001g0020 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.260+1855C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144993153 | ||||||
| chr1:144993565
|
G | A | 1 | a0006c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.260+1443C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144993565 | ||||||
| chr1:144994544
|
G | A | 1 | a0001c0001t0001g0026 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.260+464C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144994544 | ||||||
| chr1:144994551
|
A | AGT | 5 | a0001c0001t0002g0017a0001c0001t0015g0010a0004c0009t0003g0014others(2): Show | 5 | HG01346.hp1 HG02129.hp2 HG02135.hp1 others(2): Show |
intron_variant | MODIFIER | c.260+455_260+456dup others(2): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144994551 | ||||||
| chr1:144994560
|
G | A | 1 | a0001c0001t0001g0056 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.260+448C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144994560 | ||||||
| chr1:144994567
|
T | TGTGAGAG others(3): Show |
1 | a0001c0001t0016g0038 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.260+440_260+441ins others(10): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144994567 | ||||||
| chr1:144994567
|
TGA | T | 20 | a0001c0001t0001g0009a0001c0001t0001g0026a0001c0001t0001g0029others(17): Show | 20 | HG00280.hp2 HG00673.hp1 HG01099.hp1 others(17): Show |
intron_variant | MODIFIER | c.260+439_260+440del others(2): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144994567 | ||||||
| chr1:144994567
|
TGAGA | T | 18 | a0001c0001t0001g0015a0001c0001t0001g0018a0001c0001t0001g0020others(15): Show | 18 | HG00280.hp1 HG00673.hp2 HG00735.hp1 others(15): Show |
intron_variant | MODIFIER | c.260+437_260+440del others(4): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144994567 | ||||||
| chr1:144994567
|
TGAGAGAG others(1): Show |
T | 2 | a0001c0001t0001g0019a0001c0001t0001g0036 | 2 | HG01952.hp2 HG02071.hp1 |
intron_variant | MODIFIER | c.260+433_260+440del others(8): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144994567 | ||||||
| chr1:144994569
|
A | T | 8 | a0001c0001t0001g0006a0001c0001t0001g0024a0001c0001t0001g0034others(5): Show | 8 | HG02015.hp2 HG02129.hp1 HG02257.hp2 others(5): Show |
intron_variant | MODIFIER | c.260+439T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144994569 | ||||||
| chr1:144994571
|
A | T | 22 | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0024others(19): Show | 22 | HG00280.hp2 HG00673.hp1 HG01099.hp1 others(19): Show |
intron_variant | MODIFIER | c.260+437T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144994571 | ||||||
| chr1:144994573
|
A | T | 36 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0018others(33): Show | 36 | HG00280.hp1 HG00280.hp2 HG00673.hp1 others(33): Show |
intron_variant | MODIFIER | c.260+435T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144994573 | ||||||
| chr1:144994575
|
A | T | 23 | a0001c0001t0001g0015a0001c0001t0001g0018a0001c0001t0001g0020others(20): Show | 23 | HG00280.hp1 HG00673.hp2 HG00735.hp1 others(20): Show |
intron_variant | MODIFIER | c.260+433T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144994575 | ||||||
| chr1:144994577
|
A | T | 4 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0036others(1): Show | 4 | HG01109.hp1 HG01952.hp2 HG02071.hp1 others(1): Show |
intron_variant | MODIFIER | c.260+431T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144994577 | ||||||
| chr1:144994579
|
A | T | 2 | a0001c0001t0001g0019a0001c0001t0001g0036 | 2 | HG01952.hp2 HG02071.hp1 |
intron_variant | MODIFIER | c.260+429T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 3/9 | chr1 | 144994579 | ||||||
| chr1:144995672
|
A | T | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-472T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 144995672 | ||||||
| chr1:144995813
|
C | G | 1 | a0001c0001t0003g0022 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.68-613G>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 144995813 | ||||||
| chr1:144995916
|
A | G | 1 | a0001c0001t0003g0022 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.68-716T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 144995916 | ||||||
| chr1:144996236
|
G | A | 2 | a0001c0001t0001g0020a0001c0001t0017g0043 | 2 | HG01175.hp1 HG02257.hp1 |
intron_variant | MODIFIER | c.68-1036C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 144996236 | ||||||
| chr1:144996512
|
C | A | 2 | a0001c0001t0001g0020a0001c0001t0017g0043 | 2 | HG01175.hp1 HG02257.hp1 |
intron_variant | MODIFIER | c.68-1312G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 144996512 | ||||||
| chr1:144996574
|
T | C | 3 | a0001c0001t0001g0024a0002c0002t0010g0023a0002c0002t0011g0028 | 3 | HG00673.hp1 HG02015.hp2 HG02071.hp2 |
intron_variant | MODIFIER | c.68-1374A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 144996574 | ||||||
| chr1:144996853
|
C | A | 1 | a0001c0001t0017g0043 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.68-1653G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 144996853 | ||||||
| chr1:144997418
|
A | G | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.68-2218T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 144997418 | ||||||
| chr1:144999644
|
G | A | 1 | a0001c0001t0001g0024 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.68-4444C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 144999644 | ||||||
| chr1:144999696
|
T | A | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.68-4496A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 144999696 | ||||||
| chr1:144999929
|
T | G | 12 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0021others(9): Show | 12 | HG00673.hp2 HG01952.hp2 HG01978.hp1 others(9): Show |
intron_variant | MODIFIER | c.68-4729A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 144999929 | ||||||
| chr1:145000030
|
G | A | 1 | a0001c0001t0001g0048 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.68-4830C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145000030 | ||||||
| chr1:145000778
|
C | T | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-5578G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145000778 | ||||||
| chr1:145000982
|
A | T | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-5782T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145000982 | ||||||
| chr1:145001513
|
A | T | 1 | a0001c0001t0001g0019 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.68-6313T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145001513 | ||||||
| chr1:145002320
|
G | A | 1 | a0001c0001t0001g0041 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.68-7120C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145002320 | ||||||
| chr1:145002436
|
C | T | 1 | a0001c0001t0001g0026 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.68-7236G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145002436 | ||||||
| chr1:145002512
|
T | C | 43 | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0015others(40): Show | 43 | HG00280.hp1 HG00280.hp2 HG00673.hp1 others(40): Show |
intron_variant | MODIFIER | c.68-7312A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145002512 | ||||||
| chr1:145002818
|
T | C | 2 | a0001c0001t0002g0035a0001c0001t0016g0038 | 2 | HG02602.hp1 HG03831.hp2 |
intron_variant | MODIFIER | c.68-7618A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145002818 | ||||||
| chr1:145002958
|
G | C | 3 | a0001c0001t0009g0046a0003c0003t0004g0054a0003c0003t0004g0055 | 3 | HG01109.hp1 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-7758C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145002958 | ||||||
| chr1:145003372
|
A | G | 1 | a0001c0001t0017g0043 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.68-8172T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145003372 | ||||||
| chr1:145003829
|
T | C | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-8629A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145003829 | ||||||
| chr1:145004579
|
G | C | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-9379C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145004579 | ||||||
| chr1:145004716
|
G | A | 1 | a0001c0001t0001g0009 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.68-9516C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145004716 | ||||||
| chr1:145004935
|
G | T | 1 | a0001c0001t0001g0027 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.68-9735C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145004935 | ||||||
| chr1:145005151
|
A | G | 7 | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0029others(4): Show | 7 | HG00280.hp2 HG00735.hp1 HG01099.hp2 others(4): Show |
intron_variant | MODIFIER | c.68-9951T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145005151 | ||||||
| chr1:145006298
|
C | T | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.68-11098G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145006298 | ||||||
| chr1:145006364
|
T | C | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.68-11164A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145006364 | ||||||
| chr1:145007802
|
C | CT | 5 | a0001c0001t0001g0052a0001c0001t0016g0038a0003c0003t0004g0054others(2): Show | 5 | HG02615.hp1 HG02615.hp2 HG03492.hp1 others(2): Show |
intron_variant | MODIFIER | c.68-12603dupA | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145007802 | ||||||
| chr1:145007837
|
C | T | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-12637G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145007837 | ||||||
| chr1:145008686
|
TTC | T | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-13488_68-13487d others(4): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145008686 | ||||||
| chr1:145008899
|
C | T | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-13699G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145008899 | ||||||
| chr1:145008947
|
G | A | 1 | a0001c0001t0007g0011 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.68-13747C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145008947 | ||||||
| chr1:145009176
|
CA | C | 5 | a0001c0001t0001g0040a0001c0001t0007g0011a0003c0003t0004g0054others(2): Show | 5 | HG01099.hp1 HG02615.hp2 HG03490.hp2 others(2): Show |
intron_variant | MODIFIER | c.68-13977delT | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145009176 | ||||||
| chr1:145009363
|
C | T | 2 | a0001c0001t0015g0010a0004c0009t0003g0014 | 2 | HG01346.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.68-14163G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145009363 | ||||||
| chr1:145009587
|
C | CA | 4 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0047others(1): Show | 4 | HG01175.hp2 HG01978.hp1 HG02602.hp2 others(1): Show |
intron_variant | MODIFIER | c.68-14388dupT | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145009587 | ||||||
| chr1:145009749
|
T | G | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.68-14549A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145009749 | ||||||
| chr1:145010254
|
A | G | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-15054T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145010254 | ||||||
| chr1:145010657
|
C | T | 1 | a0001c0001t0001g0056 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.68-15457G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145010657 | ||||||
| chr1:145011448
|
A | G | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-16248T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145011448 | ||||||
| chr1:145012005
|
G | A | 15 | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0015others(12): Show | 15 | HG00280.hp2 HG00673.hp1 HG00735.hp1 others(12): Show |
intron_variant | MODIFIER | c.68-16805C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145012005 | ||||||
| chr1:145012628
|
A | C | 1 | a0001c0001t0001g0026 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.68-17428T>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145012628 | ||||||
| chr1:145012804
|
G | T | 1 | a0001c0001t0001g0034 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.68-17604C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145012804 | ||||||
| chr1:145012924
|
G | A | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-17724C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145012924 | ||||||
| chr1:145013189
|
C | T | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.68-17989G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145013189 | ||||||
| chr1:145013224
|
C | T | 5 | a0001c0001t0001g0006a0001c0001t0001g0024a0002c0002t0001g0031others(2): Show | 5 | HG00673.hp1 HG02015.hp2 HG02071.hp2 others(2): Show |
intron_variant | MODIFIER | c.68-18024G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145013224 | ||||||
| chr1:145013375
|
T | C | 1 | a0001c0001t0001g0056 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.68-18175A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145013375 | ||||||
| chr1:145013481
|
T | G | 1 | a0001c0001t0001g0032 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.68-18281A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145013481 | ||||||
| chr1:145014174
|
C | T | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.68-18974G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145014174 | ||||||
| chr1:145014292
|
C | A | 1 | a0001c0001t0008g0005 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.68-19092G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145014292 | ||||||
| chr1:145015081
|
A | AT | 5 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0008others(2): Show | 5 | HG01258.hp2 HG02129.hp2 NA18941.hp1 others(2): Show |
intron_variant | MODIFIER | c.68-19882dupA | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145015081 | ||||||
| chr1:145016851
|
T | G | 1 | a0001c0001t0001g0047 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.68-21651A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145016851 | ||||||
| chr1:145016852
|
T | G | 1 | a0001c0001t0001g0019 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.68-21652A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145016852 | ||||||
| chr1:145016853
|
T | G | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-21653A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145016853 | ||||||
| chr1:145017247
|
T | C | 1 | a0001c0001t0001g0037 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.68-22047A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145017247 | ||||||
| chr1:145017711
|
G | A | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.68-22511C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145017711 | ||||||
| chr1:145018167
|
G | A | 1 | a0006c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.68-22967C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145018167 | ||||||
| chr1:145018442
|
C | T | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-23242G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145018442 | ||||||
| chr1:145018793
|
C | A | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-23593G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145018793 | ||||||
| chr1:145018829
|
T | A | 7 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0044others(4): Show | 7 | HG00280.hp1 HG00735.hp2 HG01099.hp1 others(4): Show |
intron_variant | MODIFIER | c.68-23629A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145018829 | ||||||
| chr1:145018861
|
T | A | 1 | a0001c0001t0003g0022 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.68-23661A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145018861 | ||||||
| chr1:145018891
|
G | A | 1 | a0001c0001t0008g0005 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.68-23691C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145018891 | ||||||
| chr1:145019179
|
CA | C | 47 | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0015others(44): Show | 47 | HG00280.hp1 HG00280.hp2 HG00673.hp1 others(44): Show |
intron_variant | MODIFIER | c.68-23980delT | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145019179 | ||||||
| chr1:145019362
|
A | C | 1 | a0001c0001t0001g0045 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.68-24162T>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145019362 | ||||||
| chr1:145019834
|
C | T | 1 | a0009c0008t0005g0039 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.68-24634G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145019834 | ||||||
| chr1:145020680
|
C | CA | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-25481dupT | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145020680 | ||||||
| chr1:145020913
|
C | T | 2 | a0001c0001t0001g0033a0001c0001t0001g0034 | 2 | NA18946.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.68-25713G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145020913 | ||||||
| chr1:145021563
|
C | G | 1 | a0001c0001t0001g0036 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.68-26363G>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145021563 | ||||||
| chr1:145021718
|
G | A | 2 | a0001c0001t0001g0040a0001c0001t0001g0041 | 2 | HG01099.hp1 HG01978.hp2 |
intron_variant | MODIFIER | c.68-26518C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145021718 | ||||||
| chr1:145021814
|
C | CA | 5 | a0001c0001t0001g0020a0001c0001t0001g0047a0001c0001t0017g0043others(2): Show | 5 | HG01175.hp1 HG01978.hp1 HG02257.hp1 others(2): Show |
intron_variant | MODIFIER | c.68-26615dupT | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145021814 | ||||||
| chr1:145022245
|
A | C | 55 | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0015others(52): Show | 55 | HG00280.hp1 HG00280.hp2 HG00673.hp1 others(52): Show |
intron_variant | MODIFIER | c.68-27045T>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145022245 | ||||||
| chr1:145022326
|
A | AC | 4 | a0001c0001t0001g0009a0001c0001t0001g0052a0001c0001t0003g0022others(1): Show | 4 | HG01952.hp1 HG03669.hp1 HG03669.hp2 others(1): Show |
intron_variant | MODIFIER | c.68-27127dupG | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145022326 | ||||||
| chr1:145022465
|
G | C | 1 | a0001c0001t0001g0048 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.68-27265C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145022465 | ||||||
| chr1:145022579
|
C | T | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-27379G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145022579 | ||||||
| chr1:145022597
|
T | C | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.68-27397A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145022597 | ||||||
| chr1:145022680
|
A | T | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.68-27480T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145022680 | ||||||
| chr1:145023495
|
T | C | 7 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0044others(4): Show | 7 | HG00280.hp1 HG00735.hp2 HG01099.hp1 others(4): Show |
intron_variant | MODIFIER | c.68-28295A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145023495 | ||||||
| chr1:145023724
|
T | C | 7 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0044others(4): Show | 7 | HG00280.hp1 HG00735.hp2 HG01099.hp1 others(4): Show |
intron_variant | MODIFIER | c.68-28524A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145023724 | ||||||
| chr1:145023753
|
G | A | 7 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0044others(4): Show | 7 | HG00280.hp1 HG00735.hp2 HG01099.hp1 others(4): Show |
intron_variant | MODIFIER | c.68-28553C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145023753 | ||||||
| chr1:145024024
|
G | A | 2 | a0001c0001t0015g0010a0004c0009t0003g0014 | 2 | HG01346.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.68-28824C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145024024 | ||||||
| chr1:145024307
|
C | T | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.68-29107G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145024307 | ||||||
| chr1:145024486
|
C | T | 2 | a0001c0001t0001g0029a0001c0001t0001g0030 | 2 | HG01099.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.68-29286G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145024486 | ||||||
| chr1:145025822
|
G | A | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-30622C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145025822 | ||||||
| chr1:145025991
|
C | T | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.68-30791G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145025991 | ||||||
| chr1:145026425
|
T | C | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.68-31225A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145026425 | ||||||
| chr1:145026707
|
A | G | 1 | a0001c0001t0002g0003 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.68-31507T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145026707 | ||||||
| chr1:145026906
|
G | A | 1 | a0002c0002t0001g0042 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.68-31706C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145026906 | ||||||
| chr1:145027011
|
A | AT | 9 | a0001c0001t0001g0015a0001c0001t0001g0041a0001c0001t0001g0056others(6): Show | 9 | HG01346.hp2 HG01952.hp1 HG01978.hp2 others(6): Show |
intron_variant | MODIFIER | c.68-31812dupA | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145027011 | ||||||
| chr1:145027099
|
C | A | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-31899G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145027099 | ||||||
| chr1:145027240
|
T | C | 1 | a0001c0001t0003g0022 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.68-32040A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145027240 | ||||||
| chr1:145027451
|
G | A | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-32251C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145027451 | ||||||
| chr1:145027924
|
C | G | 1 | a0001c0001t0001g0021 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.68-32724G>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145027924 | ||||||
| chr1:145028196
|
A | G | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.68-32996T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145028196 | ||||||
| chr1:145029784
|
T | G | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-34584A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145029784 | ||||||
| chr1:145029958
|
T | C | 1 | a0001c0001t0009g0046 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.68-34758A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145029958 | ||||||
| chr1:145030396
|
A | T | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-35196T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030396 | ||||||
| chr1:145030430
|
C | T | 1 | a0001c0001t0001g0049 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.68-35230G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030430 | ||||||
| chr1:145030696
|
T | C | 1 | a0005c0004t0005g0013 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.68-35496A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030696 | ||||||
| chr1:145030703
|
TA | T | 4 | a0001c0001t0001g0021a0001c0001t0001g0041a0001c0001t0001g0047others(1): Show | 4 | HG01978.hp1 HG01978.hp2 HG02135.hp2 others(1): Show |
intron_variant | MODIFIER | c.68-35504delT | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030703 | ||||||
| chr1:145030706
|
AAAAAAAA others(10): Show |
A | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.68-35523_68-35507d others(19): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030706 | ||||||
| chr1:145030712
|
AAAAAAAA others(6): Show |
A | 1 | a0002c0002t0001g0042 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.68-35525_68-35513d others(15): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030712 | ||||||
| chr1:145030717
|
A | T | 1 | a0001c0001t0001g0047 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.68-35517T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030717 | ||||||
| chr1:145030719
|
A | T | 2 | a0001c0001t0001g0021a0001c0001t0001g0047 | 2 | HG01978.hp1 HG02135.hp2 |
intron_variant | MODIFIER | c.68-35519T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030719 | ||||||
| chr1:145030719
|
AAAATATA others(3): Show |
A | 1 | a0001c0001t0001g0024 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.68-35529_68-35520d others(12): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030719 | ||||||
| chr1:145030720
|
AAATATAT | A | 4 | a0001c0001t0002g0017a0001c0001t0003g0016a0001c0001t0013g0025others(1): Show | 4 | HG01346.hp2 HG02071.hp2 HG02129.hp2 others(1): Show |
intron_variant | MODIFIER | c.68-35527_68-35521d others(9): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030720 | ||||||
| chr1:145030720
|
AAATATAT others(4): Show |
A | 1 | a0001c0001t0001g0020 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.68-35531_68-35521d others(13): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030720 | ||||||
| chr1:145030720
|
AAATATAT others(8): Show |
A | 1 | a0001c0001t0008g0005 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.68-35535_68-35521d others(17): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030720 | ||||||
| chr1:145030721
|
A | T | 8 | a0001c0001t0001g0021a0001c0001t0001g0026a0001c0001t0001g0047others(5): Show | 8 | HG01258.hp1 HG01978.hp1 HG02135.hp2 others(5): Show |
intron_variant | MODIFIER | c.68-35521T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030721 | ||||||
| chr1:145030721
|
AATATAT | A | 4 | a0001c0001t0001g0009a0001c0001t0001g0029a0001c0001t0001g0030others(1): Show | 4 | HG01099.hp2 HG01109.hp2 HG03490.hp1 others(1): Show |
intron_variant | MODIFIER | c.68-35527_68-35522d others(8): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030721 | ||||||
| chr1:145030721
|
AATATATA others(1): Show |
A | 4 | a0001c0001t0001g0006a0001c0001t0001g0027a0001c0001t0001g0034others(1): Show | 4 | HG00735.hp1 HG02129.hp1 HG03831.hp2 others(1): Show |
intron_variant | MODIFIER | c.68-35529_68-35522d others(10): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030721 | ||||||
| chr1:145030721
|
AATATATA others(3): Show |
A | 2 | a0002c0002t0001g0031a0007c0006t0014g0007 | 2 | HG02083.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.68-35531_68-35522d others(12): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030721 | ||||||
| chr1:145030722
|
ATATAT | A | 2 | a0001c0001t0001g0033a0004c0009t0003g0014 | 2 | HG03492.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.68-35527_68-35523d others(7): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030722 | ||||||
| chr1:145030722
|
ATATATAT | A | 2 | a0001c0001t0001g0032a0001c0001t0002g0002 | 2 | HG00280.hp2 HG03831.hp1 |
intron_variant | MODIFIER | c.68-35529_68-35523d others(9): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030722 | ||||||
| chr1:145030722
|
ATATATAT others(6): Show |
A | 1 | a0001c0001t0001g0019 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.68-35535_68-35523d others(15): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030722 | ||||||
| chr1:145030729
|
T | A | 4 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0033others(1): Show | 4 | HG01099.hp2 HG01109.hp2 HG03490.hp1 others(1): Show |
intron_variant | MODIFIER | c.68-35529A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030729 | ||||||
| chr1:145030731
|
T | A | 8 | a0001c0001t0001g0027a0001c0001t0001g0029a0001c0001t0001g0030others(5): Show | 8 | HG00280.hp2 HG00735.hp1 HG01099.hp2 others(5): Show |
intron_variant | MODIFIER | c.68-35531A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030731 | ||||||
| chr1:145030733
|
T | A | 3 | a0001c0001t0001g0027a0001c0001t0002g0002a0005c0004t0005g0013 | 3 | HG00735.hp1 HG03490.hp1 HG03831.hp1 |
intron_variant | MODIFIER | c.68-35533A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030733 | ||||||
| chr1:145030735
|
T | A | 1 | a0005c0004t0005g0013 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.68-35535A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030735 | ||||||
| chr1:145030991
|
C | T | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.68-35791G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145030991 | ||||||
| chr1:145031278
|
T | C | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-36078A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145031278 | ||||||
| chr1:145031307
|
A | T | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-36107T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145031307 | ||||||
| chr1:145031494
|
A | G | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.68-36294T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145031494 | ||||||
| chr1:145031707
|
A | C | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-36507T>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145031707 | ||||||
| chr1:145031764
|
G | A | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.68-36564C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145031764 | ||||||
| chr1:145031957
|
A | C | 6 | a0001c0001t0001g0018a0001c0001t0002g0003a0001c0001t0002g0008others(3): Show | 6 | HG01258.hp2 HG02083.hp1 HG02129.hp2 others(3): Show |
intron_variant | MODIFIER | c.68-36757T>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145031957 | ||||||
| chr1:145031959
|
T | C | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.68-36759A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145031959 | ||||||
| chr1:145031986
|
T | C | 1 | a0001c0001t0001g0041 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.68-36786A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145031986 | ||||||
| chr1:145032136
|
G | A | 2 | a0001c0001t0001g0020a0001c0001t0017g0043 | 2 | HG01175.hp1 HG02257.hp1 |
intron_variant | MODIFIER | c.68-36936C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145032136 | ||||||
| chr1:145032466
|
A | G | 4 | a0001c0001t0001g0024a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 4 | HG02015.hp2 HG02615.hp2 HG03490.hp2 others(1): Show |
intron_variant | MODIFIER | c.68-37266T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145032466 | ||||||
| chr1:145034207
|
A | G | 6 | a0001c0001t0001g0018a0001c0001t0002g0003a0001c0001t0002g0008others(3): Show | 6 | HG01258.hp2 HG02083.hp1 HG02129.hp2 others(3): Show |
intron_variant | MODIFIER | c.68-39007T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145034207 | ||||||
| chr1:145034475
|
T | C | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-39275A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145034475 | ||||||
| chr1:145034526
|
G | A | 1 | a0001c0001t0001g0052 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.68-39326C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145034526 | ||||||
| chr1:145034696
|
A | G | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.68-39496T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145034696 | ||||||
| chr1:145034757
|
G | A | 2 | a0001c0001t0001g0020a0001c0001t0017g0043 | 2 | HG01175.hp1 HG02257.hp1 |
intron_variant | MODIFIER | c.68-39557C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145034757 | ||||||
| chr1:145034930
|
T | A | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-39730A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145034930 | ||||||
| chr1:145035241
|
A | C | 1 | a0001c0001t0001g0047 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.68-40041T>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145035241 | ||||||
| chr1:145035328
|
T | G | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-40128A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145035328 | ||||||
| chr1:145035554
|
C | T | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-40354G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145035554 | ||||||
| chr1:145035765
|
G | A | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.68-40565C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145035765 | ||||||
| chr1:145035841
|
T | G | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-40641A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145035841 | ||||||
| chr1:145036085
|
A | G | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-40885T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145036085 | ||||||
| chr1:145036171
|
C | A | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-40971G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145036171 | ||||||
| chr1:145036262
|
T | C | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-41062A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145036262 | ||||||
| chr1:145036348
|
C | CTT | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-41149_68-41148i others(4): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145036348 | ||||||
| chr1:145036514
|
C | CA | 41 | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0015others(38): Show | 41 | HG00280.hp1 HG00280.hp2 HG00673.hp1 others(38): Show |
intron_variant | MODIFIER | c.68-41315dupT | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145036514 | ||||||
| chr1:145036648
|
C | T | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-41448G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145036648 | ||||||
| chr1:145037132
|
C | T | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.68-41932G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145037132 | ||||||
| chr1:145037544
|
T | C | 1 | a0001c0001t0013g0025 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.68-42344A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145037544 | ||||||
| chr1:145038294
|
A | G | 24 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0036others(21): Show | 24 | HG00280.hp1 HG00673.hp2 HG00735.hp2 others(21): Show |
intron_variant | MODIFIER | c.68-43094T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145038294 | ||||||
| chr1:145038311
|
C | T | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-43111G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145038311 | ||||||
| chr1:145038666
|
T | A | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-43466A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145038666 | ||||||
| chr1:145038797
|
G | A | 1 | a0007c0006t0014g0007 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.68-43597C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145038797 | ||||||
| chr1:145038841
|
G | A | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-43641C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145038841 | ||||||
| chr1:145039609
|
G | T | 1 | a0001c0001t0001g0009 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.68-44409C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145039609 | ||||||
| chr1:145040290
|
G | T | 1 | a0001c0001t0001g0044 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.68-45090C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145040290 | ||||||
| chr1:145040472
|
C | T | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-45272G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145040472 | ||||||
| chr1:145040871
|
C | T | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-45671G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145040871 | ||||||
| chr1:145041026
|
T | G | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-45826A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145041026 | ||||||
| chr1:145041066
|
ATATATAT others(2): Show |
A | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-45875_68-45867d others(11): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145041066 | ||||||
| chr1:145041075
|
G | GTA | 13 | a0001c0001t0001g0018a0001c0001t0001g0020a0001c0001t0002g0003others(10): Show | 13 | HG01175.hp1 HG01258.hp2 HG01346.hp1 others(10): Show |
intron_variant | MODIFIER | c.68-45877_68-45876d others(4): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145041075 | ||||||
| chr1:145041075
|
G | GTATA | 14 | a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0021others(11): Show | 14 | HG00673.hp2 HG01099.hp1 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.68-45879_68-45876d others(6): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145041075 | ||||||
| chr1:145041075
|
G | GTATATA | 5 | a0001c0001t0001g0037a0001c0001t0001g0048a0001c0001t0002g0002others(2): Show | 5 | HG03831.hp1 NA18941.hp1 NA18946.hp2 others(2): Show |
intron_variant | MODIFIER | c.68-45881_68-45876d others(8): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145041075 | ||||||
| chr1:145041075
|
G | GTATATAT others(1): Show |
2 | a0001c0001t0001g0044a0009c0008t0005g0039 | 2 | HG00735.hp2 HG02135.hp1 |
intron_variant | MODIFIER | c.68-45883_68-45876d others(10): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145041075 | ||||||
| chr1:145041075
|
G | GTATATAT others(3): Show |
2 | a0001c0001t0001g0050a0001c0001t0002g0008 | 2 | HG00280.hp1 NA18959.hp1 |
intron_variant | MODIFIER | c.68-45885_68-45876d others(12): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145041075 | ||||||
| chr1:145041075
|
G | GTATATAT others(9): Show |
1 | a0001c0001t0008g0005 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.68-45891_68-45876d others(18): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145041075 | ||||||
| chr1:145041357
|
C | T | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-46157G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145041357 | ||||||
| chr1:145041444
|
A | G | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-46244T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145041444 | ||||||
| chr1:145041806
|
A | G | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-46606T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145041806 | ||||||
| chr1:145042044
|
T | C | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-46844A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145042044 | ||||||
| chr1:145042230
|
A | G | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-47030T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145042230 | ||||||
| chr1:145042537
|
T | A | 42 | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0019others(39): Show | 42 | HG00280.hp1 HG00280.hp2 HG00673.hp1 others(39): Show |
intron_variant | MODIFIER | c.68-47337A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145042537 | ||||||
| chr1:145042558
|
G | A | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-47358C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145042558 | ||||||
| chr1:145042677
|
T | A | 53 | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0015others(50): Show | 53 | HG00280.hp1 HG00280.hp2 HG00673.hp1 others(50): Show |
intron_variant | MODIFIER | c.68-47477A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145042677 | ||||||
| chr1:145042935
|
T | C | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.68-47735A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145042935 | ||||||
| chr1:145044428
|
T | C | 2 | a0001c0001t0001g0015a0001c0001t0016g0038 | 2 | HG02602.hp2 HG03831.hp2 |
intron_variant | MODIFIER | c.67+48407A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145044428 | ||||||
| chr1:145044575
|
T | C | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+48260A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145044575 | ||||||
| chr1:145044593
|
A | G | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+48242T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145044593 | ||||||
| chr1:145044621
|
T | C | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+48214A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145044621 | ||||||
| chr1:145044650
|
T | TAAA | 4 | a0001c0001t0001g0006a0001c0001t0002g0004a0001c0001t0002g0017others(1): Show | 4 | HG02129.hp1 HG02129.hp2 HG02135.hp1 others(1): Show |
intron_variant | MODIFIER | c.67+48182_67+48184d others(5): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145044650 | ||||||
| chr1:145044650
|
T | TAAAAAAA others(9): Show |
1 | a0002c0002t0001g0031 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.67+48169_67+48184d others(18): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145044650 | ||||||
| chr1:145044650
|
TAAAAAAA | T | 4 | a0001c0001t0001g0034a0001c0001t0002g0035a0004c0009t0003g0014others(1): Show | 4 | HG02602.hp1 HG03490.hp1 HG03492.hp2 others(1): Show |
intron_variant | MODIFIER | c.67+48178_67+48184d others(9): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145044650 | ||||||
| chr1:145044650
|
TAAAAAAA others(1): Show |
T | 5 | a0001c0001t0001g0015a0001c0001t0001g0019a0001c0001t0015g0010others(2): Show | 5 | HG01346.hp1 HG01952.hp2 HG02015.hp1 others(2): Show |
intron_variant | MODIFIER | c.67+48177_67+48184d others(10): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145044650 | ||||||
| chr1:145044650
|
TAAAAAAA others(4): Show |
T | 1 | a0007c0006t0014g0007 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.67+48174_67+48184d others(13): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145044650 | ||||||
| chr1:145044650
|
TAAAAAAA others(5): Show |
T | 1 | a0001c0001t0013g0025 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.67+48173_67+48184d others(14): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145044650 | ||||||
| chr1:145044650
|
TAAAAAAA others(6): Show |
T | 3 | a0001c0001t0001g0027a0001c0001t0008g0005a0001c0001t0017g0043 | 3 | HG00735.hp1 HG02257.hp1 HG02257.hp2 |
intron_variant | MODIFIER | c.67+48172_67+48184d others(15): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145044650 | ||||||
| chr1:145044650
|
TAAAAAAA others(7): Show |
T | 3 | a0001c0001t0001g0020a0001c0001t0001g0030a0001c0001t0001g0033 | 3 | HG01109.hp2 HG01175.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.67+48171_67+48184d others(16): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145044650 | ||||||
| chr1:145044650
|
TAAAAAAA others(8): Show |
T | 2 | a0001c0001t0001g0029a0001c0001t0001g0032 | 2 | HG00280.hp2 HG01099.hp2 |
intron_variant | MODIFIER | c.67+48170_67+48184d others(17): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145044650 | ||||||
| chr1:145044650
|
TAAAAAAA others(9): Show |
T | 2 | a0001c0001t0001g0037a0008c0007t0018g0001 | 2 | HG02615.hp2 NA18959.hp2 |
intron_variant | MODIFIER | c.67+48169_67+48184d others(18): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145044650 | ||||||
| chr1:145044650
|
TAAAAAAA others(13): Show |
T | 1 | a0001c0001t0001g0056 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.67+48165_67+48184d others(22): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145044650 | ||||||
| chr1:145044650
|
TAAAAAAA others(15): Show |
T | 1 | a0001c0001t0007g0011 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.67+48163_67+48184d others(24): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145044650 | ||||||
| chr1:145044650
|
TAAAAAAA others(16): Show |
T | 1 | a0002c0002t0011g0028 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.67+48162_67+48184d others(25): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145044650 | ||||||
| chr1:145044650
|
TAAAAAAA others(17): Show |
T | 1 | a0001c0001t0001g0044 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.67+48161_67+48184d others(26): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145044650 | ||||||
| chr1:145044650
|
TAAAAAAA others(19): Show |
T | 2 | a0001c0001t0001g0026a0001c0001t0003g0022 | 2 | HG01258.hp1 HG01952.hp1 |
intron_variant | MODIFIER | c.67+48159_67+48184d others(28): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145044650 | ||||||
| chr1:145044650
|
TAAAAAAA others(21): Show |
T | 1 | a0001c0001t0001g0050 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.67+48157_67+48184d others(30): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145044650 | ||||||
| chr1:145044709
|
GCAAGA | G | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+48121_67+48125d others(7): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145044709 | ||||||
| chr1:145045360
|
G | T | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+47475C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145045360 | ||||||
| chr1:145045378
|
T | G | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+47457A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145045378 | ||||||
| chr1:145045921
|
A | G | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+46914T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145045921 | ||||||
| chr1:145046023
|
A | T | 3 | a0001c0001t0001g0033a0003c0003t0004g0054a0003c0003t0004g0055 | 3 | HG03490.hp2 HG03492.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.67+46812T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145046023 | ||||||
| chr1:145046275
|
C | A | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+46560G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145046275 | ||||||
| chr1:145046620
|
A | AG | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+46214_67+46215i others(3): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145046620 | ||||||
| chr1:145046904
|
G | A | 1 | a0001c0001t0013g0025 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.67+45931C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145046904 | ||||||
| chr1:145046938
|
G | T | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.67+45897C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145046938 | ||||||
| chr1:145047056
|
G | A | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+45779C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145047056 | ||||||
| chr1:145047155
|
A | G | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+45680T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145047155 | ||||||
| chr1:145047175
|
C | CA | 12 | a0001c0001t0001g0020a0001c0001t0001g0026a0001c0001t0001g0030others(9): Show | 12 | HG00735.hp2 HG01109.hp1 HG01109.hp2 others(9): Show |
intron_variant | MODIFIER | c.67+45659dupT | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145047175 | ||||||
| chr1:145047175
|
C | CAA | 11 | a0001c0001t0001g0009a0001c0001t0001g0021a0001c0001t0001g0037others(8): Show | 11 | HG00673.hp2 HG01978.hp1 HG01978.hp2 others(8): Show |
intron_variant | MODIFIER | c.67+45658_67+45659d others(4): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145047175 | ||||||
| chr1:145047307
|
G | A | 1 | a0006c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.67+45528C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145047307 | ||||||
| chr1:145048164
|
T | C | 2 | a0001c0001t0008g0005a0001c0001t0009g0046 | 2 | HG01109.hp1 HG02257.hp2 |
intron_variant | MODIFIER | c.67+44671A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145048164 | ||||||
| chr1:145049816
|
T | C | 1 | a0001c0001t0001g0020 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.67+43019A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145049816 | ||||||
| chr1:145050426
|
C | T | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.67+42409G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145050426 | ||||||
| chr1:145051186
|
G | C | 5 | a0001c0001t0001g0021a0001c0001t0008g0005a0001c0001t0017g0043others(2): Show | 5 | HG02015.hp1 HG02135.hp2 HG02257.hp1 others(2): Show |
intron_variant | MODIFIER | c.67+41649C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145051186 | ||||||
| chr1:145051403
|
A | G | 2 | a0001c0001t0001g0029a0001c0001t0001g0030 | 2 | HG01099.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.67+41432T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145051403 | ||||||
| chr1:145051441
|
C | T | 2 | a0001c0001t0009g0046a0004c0009t0003g0014 | 2 | HG01109.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.67+41394G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145051441 | ||||||
| chr1:145051865
|
C | T | 1 | a0001c0001t0001g0024 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.67+40970G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145051865 | ||||||
| chr1:145051930
|
G | A | 1 | a0009c0008t0005g0039 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.67+40905C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145051930 | ||||||
| chr1:145052147
|
C | A | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+40688G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145052147 | ||||||
| chr1:145052306
|
A | G | 2 | a0001c0001t0001g0037a0001c0001t0001g0056 | 2 | HG02523.hp1 NA18959.hp2 |
intron_variant | MODIFIER | c.67+40529T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145052306 | ||||||
| chr1:145052312
|
C | T | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+40523G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145052312 | ||||||
| chr1:145052348
|
C | T | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+40487G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145052348 | ||||||
| chr1:145052440
|
C | T | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+40395G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145052440 | ||||||
| chr1:145053200
|
T | C | 1 | a0001c0001t0001g0036 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.67+39635A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145053200 | ||||||
| chr1:145054085
|
G | GA | 4 | a0001c0001t0001g0034a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 4 | HG02615.hp2 HG03490.hp2 HG03492.hp1 others(1): Show |
intron_variant | MODIFIER | c.67+38749dupT | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145054085 | ||||||
| chr1:145054230
|
T | A | 3 | a0001c0001t0001g0034a0003c0003t0004g0054a0003c0003t0004g0055 | 3 | HG03490.hp2 HG03492.hp1 NA18946.hp1 |
intron_variant | MODIFIER | c.67+38605A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145054230 | ||||||
| chr1:145054353
|
C | T | 1 | a0001c0001t0017g0043 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.67+38482G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145054353 | ||||||
| chr1:145054462
|
T | C | 1 | a0005c0004t0005g0013 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.67+38373A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145054462 | ||||||
| chr1:145054862
|
T | C | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.67+37973A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145054862 | ||||||
| chr1:145054985
|
T | A | 1 | a0007c0006t0014g0007 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.67+37850A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145054985 | ||||||
| chr1:145055036
|
G | A | 1 | a0001c0001t0001g0052 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.67+37799C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145055036 | ||||||
| chr1:145055134
|
C | T | 1 | a0001c0001t0001g0015 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.67+37701G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145055134 | ||||||
| chr1:145055407
|
A | G | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.67+37428T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145055407 | ||||||
| chr1:145056056
|
G | A | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+36779C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145056056 | ||||||
| chr1:145056952
|
A | AAC | 6 | a0001c0001t0001g0021a0001c0001t0001g0027a0001c0001t0001g0041others(3): Show | 6 | HG00735.hp1 HG01952.hp1 HG01978.hp1 others(3): Show |
intron_variant | MODIFIER | c.67+35881_67+35882d others(4): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145056952 | ||||||
| chr1:145056952
|
A | AACAC | 4 | a0001c0001t0001g0015a0001c0001t0001g0052a0001c0001t0012g0051others(1): Show | 4 | HG02602.hp2 HG03669.hp1 HG03831.hp2 others(1): Show |
intron_variant | MODIFIER | c.67+35879_67+35882d others(6): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145056952 | ||||||
| chr1:145056952
|
AAC | A | 4 | a0001c0001t0001g0032a0001c0001t0001g0036a0001c0001t0013g0025others(1): Show | 4 | HG00280.hp2 HG01346.hp2 HG02071.hp1 others(1): Show |
intron_variant | MODIFIER | c.67+35881_67+35882d others(4): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145056952 | ||||||
| chr1:145056952
|
AACACAC | A | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+35877_67+35882d others(8): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145056952 | ||||||
| chr1:145056952
|
AACACACA others(5): Show |
A | 1 | a0001c0001t0008g0005 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.67+35871_67+35882d others(14): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145056952 | ||||||
| chr1:145056952
|
AACACACA others(7): Show |
A | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.67+35869_67+35882d others(16): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145056952 | ||||||
| chr1:145056952
|
AACACACA others(9): Show |
A | 1 | a0001c0001t0001g0037 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.67+35867_67+35882d others(18): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145056952 | ||||||
| chr1:145057162
|
C | T | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+35673G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145057162 | ||||||
| chr1:145057633
|
C | T | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+35202G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145057633 | ||||||
| chr1:145057688
|
G | GT | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+35146dupA | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145057688 | ||||||
| chr1:145057700
|
G | T | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+35135C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145057700 | ||||||
| chr1:145057701
|
T | G | 1 | a0001c0001t0002g0002 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.67+35134A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145057701 | ||||||
| chr1:145057739
|
T | C | 1 | a0001c0001t0008g0005 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.67+35096A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145057739 | ||||||
| chr1:145057770
|
C | T | 1 | a0001c0001t0002g0002 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.67+35065G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145057770 | ||||||
| chr1:145057786
|
C | T | 1 | a0001c0001t0012g0051 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.67+35049G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145057786 | ||||||
| chr1:145058021
|
C | T | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+34814G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145058021 | ||||||
| chr1:145058089
|
C | A | 3 | a0001c0001t0001g0045a0003c0003t0004g0054a0003c0003t0004g0055 | 3 | HG00673.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+34746G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145058089 | ||||||
| chr1:145058129
|
A | T | 3 | a0001c0001t0001g0045a0003c0003t0004g0054a0003c0003t0004g0055 | 3 | HG00673.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+34706T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145058129 | ||||||
| chr1:145058214
|
C | T | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.67+34621G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145058214 | ||||||
| chr1:145058288
|
C | T | 3 | a0001c0001t0001g0045a0003c0003t0004g0054a0003c0003t0004g0055 | 3 | HG00673.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+34547G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145058288 | ||||||
| chr1:145058949
|
A | G | 22 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0036others(19): Show | 22 | HG00280.hp1 HG00673.hp2 HG00735.hp2 others(19): Show |
intron_variant | MODIFIER | c.67+33886T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145058949 | ||||||
| chr1:145058959
|
G | A | 1 | a0001c0001t0015g0010 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.67+33876C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145058959 | ||||||
| chr1:145059361
|
G | T | 1 | a0001c0001t0001g0019 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.67+33474C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145059361 | ||||||
| chr1:145059411
|
G | A | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+33424C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145059411 | ||||||
| chr1:145059835
|
T | C | 3 | a0001c0001t0001g0006a0001c0001t0001g0026a0002c0002t0001g0031 | 3 | HG01258.hp1 HG02083.hp2 HG02129.hp1 |
intron_variant | MODIFIER | c.67+33000A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145059835 | ||||||
| chr1:145060452
|
C | T | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+32383G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145060452 | ||||||
| chr1:145060820
|
T | C | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.67+32015A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145060820 | ||||||
| chr1:145060898
|
G | A | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+31937C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145060898 | ||||||
| chr1:145061064
|
G | C | 1 | a0001c0001t0007g0011 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.67+31771C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145061064 | ||||||
| chr1:145061642
|
T | C | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.67+31193A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145061642 | ||||||
| chr1:145061783
|
C | T | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+31052G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145061783 | ||||||
| chr1:145062312
|
T | C | 2 | a0001c0001t0001g0015a0001c0001t0016g0038 | 2 | HG02602.hp2 HG03831.hp2 |
intron_variant | MODIFIER | c.67+30523A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145062312 | ||||||
| chr1:145062346
|
C | T | 1 | a0001c0001t0001g0026 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.67+30489G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145062346 | ||||||
| chr1:145064290
|
A | T | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+28545T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145064290 | ||||||
| chr1:145064756
|
G | A | 4 | a0001c0001t0001g0027a0001c0001t0001g0029a0001c0001t0001g0030others(1): Show | 4 | HG00280.hp2 HG00735.hp1 HG01099.hp2 others(1): Show |
intron_variant | MODIFIER | c.67+28079C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145064756 | ||||||
| chr1:145065242
|
A | G | 1 | a0001c0001t0001g0020 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.67+27593T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145065242 | ||||||
| chr1:145066462
|
C | G | 1 | a0002c0002t0001g0031 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.67+26373G>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145066462 | ||||||
| chr1:145066582
|
T | C | 1 | a0007c0006t0014g0007 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.67+26253A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145066582 | ||||||
| chr1:145066854
|
C | T | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.67+25981G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145066854 | ||||||
| chr1:145067267
|
C | A | 10 | a0001c0001t0001g0021a0001c0001t0001g0036a0001c0001t0001g0037others(7): Show | 10 | HG00673.hp2 HG01978.hp1 HG02015.hp1 others(7): Show |
intron_variant | MODIFIER | c.67+25568G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145067267 | ||||||
| chr1:145067277
|
A | C | 1 | a0001c0001t0017g0043 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.67+25558T>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145067277 | ||||||
| chr1:145067283
|
T | C | 21 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(18): Show | 21 | HG00280.hp1 HG00673.hp2 HG00735.hp2 others(18): Show |
intron_variant | MODIFIER | c.67+25552A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145067283 | ||||||
| chr1:145068064
|
G | A | 1 | a0009c0008t0005g0039 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.67+24771C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145068064 | ||||||
| chr1:145068202
|
C | CA | 11 | a0001c0001t0001g0009a0001c0001t0001g0020a0001c0001t0001g0041others(8): Show | 11 | HG00673.hp1 HG01175.hp1 HG01346.hp1 others(8): Show |
intron_variant | MODIFIER | c.67+24632dupT | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145068202 | ||||||
| chr1:145068855
|
G | C | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.67+23980C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145068855 | ||||||
| chr1:145068893
|
ATG | A | 3 | a0001c0001t0001g0045a0001c0001t0015g0010a0001c0001t0017g0043 | 3 | HG00673.hp2 HG01346.hp1 HG02257.hp1 |
intron_variant | MODIFIER | c.67+23940_67+23941d others(4): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145068893 | ||||||
| chr1:145068893
|
ATGTG | A | 9 | a0001c0001t0001g0015a0001c0001t0001g0026a0001c0001t0002g0003others(6): Show | 9 | HG01109.hp1 HG01258.hp1 HG01258.hp2 others(6): Show |
intron_variant | MODIFIER | c.67+23938_67+23941d others(6): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145068893 | ||||||
| chr1:145068893
|
ATGTGTG | A | 22 | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0018others(19): Show | 22 | HG00673.hp1 HG00735.hp1 HG01099.hp2 others(19): Show |
intron_variant | MODIFIER | c.67+23936_67+23941d others(8): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145068893 | ||||||
| chr1:145068893
|
ATGTGTGT others(1): Show |
A | 6 | a0001c0001t0001g0033a0001c0001t0001g0040a0001c0001t0002g0002others(3): Show | 6 | HG01099.hp1 HG02015.hp1 HG03831.hp1 others(3): Show |
intron_variant | MODIFIER | c.67+23934_67+23941d others(10): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145068893 | ||||||
| chr1:145068893
|
ATGTGTGT others(3): Show |
A | 7 | a0001c0001t0001g0020a0001c0001t0001g0044a0001c0001t0001g0050others(4): Show | 7 | HG00280.hp1 HG00735.hp2 HG01175.hp1 others(4): Show |
intron_variant | MODIFIER | c.67+23932_67+23941d others(12): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145068893 | ||||||
| chr1:145068893
|
ATGTGTGT others(5): Show |
A | 3 | a0001c0001t0001g0041a0001c0001t0001g0052a0001c0001t0008g0005 | 3 | HG01978.hp2 HG02257.hp2 HG03669.hp1 |
intron_variant | MODIFIER | c.67+23930_67+23941d others(14): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145068893 | ||||||
| chr1:145068893
|
ATGTGTGT others(7): Show |
A | 1 | a0001c0001t0001g0032 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.67+23928_67+23941d others(16): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145068893 | ||||||
| chr1:145068893
|
ATGTGTGT others(15): Show |
A | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.67+23920_67+23941d others(24): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145068893 | ||||||
| chr1:145068907
|
G | A | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+23928C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145068907 | ||||||
| chr1:145068919
|
G | A | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.67+23916C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145068919 | ||||||
| chr1:145069231
|
CTGAAGAG others(10): Show |
C | 1 | a0001c0001t0001g0049 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.67+23587_67+23603d others(19): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145069231 | ||||||
| chr1:145069241
|
T | C | 2 | a0001c0001t0015g0010a0008c0007t0018g0001 | 2 | HG01346.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.67+23594A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145069241 | ||||||
| chr1:145069536
|
T | A | 8 | a0001c0001t0001g0019a0001c0001t0001g0040a0001c0001t0001g0041others(5): Show | 8 | HG00280.hp1 HG00735.hp2 HG01099.hp1 others(5): Show |
intron_variant | MODIFIER | c.67+23299A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145069536 | ||||||
| chr1:145069798
|
G | A | 12 | a0001c0001t0001g0021a0001c0001t0001g0036a0001c0001t0001g0037others(9): Show | 12 | HG00673.hp2 HG01109.hp1 HG01978.hp1 others(9): Show |
intron_variant | MODIFIER | c.67+23037C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145069798 | ||||||
| chr1:145069889
|
G | A | 2 | a0001c0001t0001g0049a0008c0007t0018g0001 | 2 | HG02523.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.67+22946C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145069889 | ||||||
| chr1:145070123
|
G | A | 1 | a0007c0006t0014g0007 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.67+22712C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145070123 | ||||||
| chr1:145070844
|
G | A | 1 | a0001c0001t0001g0050 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.67+21991C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145070844 | ||||||
| chr1:145071441
|
C | G | 14 | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0024others(11): Show | 14 | HG00280.hp2 HG00673.hp1 HG00735.hp1 others(11): Show |
intron_variant | MODIFIER | c.67+21394G>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145071441 | ||||||
| chr1:145071485
|
A | T | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+21350T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145071485 | ||||||
| chr1:145071509
|
A | G | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+21326T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145071509 | ||||||
| chr1:145071586
|
A | G | 1 | a0001c0001t0002g0004 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.67+21249T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145071586 | ||||||
| chr1:145071775
|
G | A | 2 | a0001c0001t0001g0040a0001c0001t0001g0041 | 2 | HG01099.hp1 HG01978.hp2 |
intron_variant | MODIFIER | c.67+21060C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145071775 | ||||||
| chr1:145072073
|
C | T | 1 | a0001c0001t0001g0019 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.67+20762G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145072073 | ||||||
| chr1:145072456
|
C | T | 1 | a0001c0001t0015g0010 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.67+20379G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145072456 | ||||||
| chr1:145072534
|
T | C | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+20301A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145072534 | ||||||
| chr1:145073190
|
G | C | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+19645C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145073190 | ||||||
| chr1:145073356
|
G | C | 1 | a0001c0001t0012g0051 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.67+19479C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145073356 | ||||||
| chr1:145073548
|
C | T | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+19287G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145073548 | ||||||
| chr1:145074165
|
G | A | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+18670C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145074165 | ||||||
| chr1:145074276
|
A | G | 1 | a0002c0002t0001g0042 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.67+18559T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145074276 | ||||||
| chr1:145074385
|
C | T | 1 | a0001c0001t0008g0005 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.67+18450G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145074385 | ||||||
| chr1:145074490
|
T | C | 1 | a0009c0008t0005g0039 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.67+18345A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145074490 | ||||||
| chr1:145074967
|
G | A | 1 | a0001c0001t0001g0034 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.67+17868C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145074967 | ||||||
| chr1:145075043
|
C | A | 1 | a0001c0001t0002g0003 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.67+17792G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145075043 | ||||||
| chr1:145075088
|
A | G | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+17747T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145075088 | ||||||
| chr1:145075187
|
G | A | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+17648C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145075187 | ||||||
| chr1:145075793
|
A | G | 1 | a0006c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.67+17042T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145075793 | ||||||
| chr1:145075808
|
C | A | 1 | a0001c0001t0007g0011 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.67+17027G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145075808 | ||||||
| chr1:145076124
|
C | G | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+16711G>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145076124 | ||||||
| chr1:145076382
|
G | C | 1 | a0001c0001t0002g0002 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.67+16453C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145076382 | ||||||
| chr1:145076580
|
G | A | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+16255C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145076580 | ||||||
| chr1:145077002
|
T | C | 4 | a0001c0001t0008g0005a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 4 | HG02257.hp2 HG02615.hp2 HG03490.hp2 others(1): Show |
intron_variant | MODIFIER | c.67+15833A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145077002 | ||||||
| chr1:145077074
|
C | T | 1 | a0001c0001t0008g0005 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.67+15761G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145077074 | ||||||
| chr1:145077457
|
T | G | 1 | a0001c0001t0001g0009 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.67+15378A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145077457 | ||||||
| chr1:145078021
|
G | A | 21 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(18): Show | 21 | HG00280.hp1 HG00673.hp2 HG00735.hp2 others(18): Show |
intron_variant | MODIFIER | c.67+14814C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145078021 | ||||||
| chr1:145078622
|
G | A | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+14213C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145078622 | ||||||
| chr1:145079009
|
C | A | 6 | a0001c0001t0001g0018a0001c0001t0002g0003a0001c0001t0002g0008others(3): Show | 6 | HG01258.hp2 HG02083.hp1 HG02129.hp2 others(3): Show |
intron_variant | MODIFIER | c.67+13826G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145079009 | ||||||
| chr1:145079244
|
C | T | 3 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0012g0051 | 3 | HG01099.hp1 HG01978.hp2 NA20805.hp1 |
intron_variant | MODIFIER | c.67+13591G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145079244 | ||||||
| chr1:145079320
|
GA | G | 4 | a0003c0003t0004g0054a0003c0003t0004g0055a0005c0004t0005g0013others(1): Show | 4 | HG02615.hp2 HG03490.hp1 HG03490.hp2 others(1): Show |
intron_variant | MODIFIER | c.67+13514delT | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145079320 | ||||||
| chr1:145079712
|
A | G | 1 | a0001c0001t0001g0027 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.67+13123T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145079712 | ||||||
| chr1:145079871
|
A | G | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+12964T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145079871 | ||||||
| chr1:145079979
|
C | A | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+12856G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145079979 | ||||||
| chr1:145080091
|
G | C | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+12744C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145080091 | ||||||
| chr1:145080165
|
C | T | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+12670G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145080165 | ||||||
| chr1:145080330
|
C | T | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+12505G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145080330 | ||||||
| chr1:145080645
|
G | A | 21 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(18): Show | 21 | HG00280.hp1 HG00673.hp2 HG00735.hp2 others(18): Show |
intron_variant | MODIFIER | c.67+12190C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145080645 | ||||||
| chr1:145080722
|
C | T | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+12113G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145080722 | ||||||
| chr1:145080744
|
A | G | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+12091T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145080744 | ||||||
| chr1:145080840
|
G | C | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+11995C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145080840 | ||||||
| chr1:145080910
|
T | A | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+11925A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145080910 | ||||||
| chr1:145080911
|
A | G | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+11924T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145080911 | ||||||
| chr1:145080974
|
A | G | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+11861T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145080974 | ||||||
| chr1:145081130
|
A | G | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+11705T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145081130 | ||||||
| chr1:145081270
|
T | C | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+11565A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145081270 | ||||||
| chr1:145081332
|
C | T | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+11503G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145081332 | ||||||
| chr1:145081611
|
A | G | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+11224T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145081611 | ||||||
| chr1:145081680
|
A | G | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+11155T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145081680 | ||||||
| chr1:145081889
|
T | G | 1 | a0001c0001t0003g0022 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.67+10946A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145081889 | ||||||
| chr1:145082053
|
AAAAC | A | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+10778_67+10781d others(6): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145082053 | ||||||
| chr1:145082156
|
C | T | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+10679G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145082156 | ||||||
| chr1:145082236
|
G | C | 4 | a0001c0001t0008g0005a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 4 | HG02257.hp2 HG02615.hp2 HG03490.hp2 others(1): Show |
intron_variant | MODIFIER | c.67+10599C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145082236 | ||||||
| chr1:145082312
|
T | C | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.67+10523A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145082312 | ||||||
| chr1:145082490
|
A | G | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+10345T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145082490 | ||||||
| chr1:145083071
|
T | G | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.67+9764A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145083071 | ||||||
| chr1:145083110
|
T | G | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+9725A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145083110 | ||||||
| chr1:145083120
|
A | G | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+9715T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145083120 | ||||||
| chr1:145083220
|
T | A | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+9615A>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145083220 | ||||||
| chr1:145083263
|
G | A | 1 | a0001c0001t0007g0011 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.67+9572C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145083263 | ||||||
| chr1:145083509
|
T | C | 1 | a0001c0001t0012g0051 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.67+9326A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145083509 | ||||||
| chr1:145083544
|
G | A | 55 | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0015others(52): Show | 55 | HG00280.hp1 HG00280.hp2 HG00673.hp1 others(52): Show |
intron_variant | MODIFIER | c.67+9291C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145083544 | ||||||
| chr1:145084121
|
T | G | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+8714A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145084121 | ||||||
| chr1:145084143
|
G | A | 1 | a0006c0005t0006g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.67+8692C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145084143 | ||||||
| chr1:145084155
|
C | A | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+8680G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145084155 | ||||||
| chr1:145084246
|
C | T | 1 | a0001c0001t0001g0026 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.67+8589G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145084246 | ||||||
| chr1:145084327
|
CAGA | C | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+8505_67+8507del others(3): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145084327 | ||||||
| chr1:145085013
|
G | A | 1 | a0001c0001t0001g0056 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.67+7822C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145085013 | ||||||
| chr1:145085034
|
T | C | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+7801A>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145085034 | ||||||
| chr1:145085125
|
A | G | 1 | a0001c0001t0007g0011 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.67+7710T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145085125 | ||||||
| chr1:145085247
|
A | T | 1 | a0001c0001t0013g0025 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.67+7588T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145085247 | ||||||
| chr1:145085670
|
C | A | 1 | a0001c0001t0001g0052 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.67+7165G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145085670 | ||||||
| chr1:145086213
|
A | G | 1 | a0007c0006t0014g0007 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.67+6622T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145086213 | ||||||
| chr1:145086681
|
GA | G | 4 | a0001c0001t0001g0024a0001c0001t0001g0037a0001c0001t0002g0008others(1): Show | 4 | HG01346.hp1 HG02015.hp2 NA18959.hp1 others(1): Show |
intron_variant | MODIFIER | c.67+6153delT | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145086681 | ||||||
| chr1:145086696
|
A | G | 1 | a0008c0007t0018g0001 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.67+6139T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145086696 | ||||||
| chr1:145086729
|
A | G | 1 | a0002c0002t0010g0023 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.67+6106T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145086729 | ||||||
| chr1:145087026
|
G | T | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+5809C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145087026 | ||||||
| chr1:145087214
|
T | G | 16 | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0024others(13): Show | 16 | HG00280.hp2 HG00673.hp1 HG00735.hp1 others(13): Show |
intron_variant | MODIFIER | c.67+5621A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145087214 | ||||||
| chr1:145087225
|
C | T | 2 | a0001c0001t0001g0009a0001c0001t0002g0035 | 2 | HG02602.hp1 HG03669.hp2 |
intron_variant | MODIFIER | c.67+5610G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145087225 | ||||||
| chr1:145088236
|
G | C | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+4599C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145088236 | ||||||
| chr1:145088928
|
A | T | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+3907T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145088928 | ||||||
| chr1:145088929
|
C | A | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+3906G>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145088929 | ||||||
| chr1:145089990
|
T | G | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+2845A>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145089990 | ||||||
| chr1:145090110
|
G | GAAGT | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+2721_67+2724dup others(4): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145090110 | ||||||
| chr1:145090233
|
A | C | 1 | a0001c0001t0002g0008 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.67+2602T>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145090233 | ||||||
| chr1:145090286
|
G | A | 1 | a0001c0001t0002g0035 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.67+2549C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145090286 | ||||||
| chr1:145090321
|
C | T | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+2514G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145090321 | ||||||
| chr1:145090482
|
C | T | 1 | a0001c0001t0001g0036 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.67+2353G>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145090482 | ||||||
| chr1:145090976
|
A | G | 1 | a0007c0006t0014g0007 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.67+1859T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145090976 | ||||||
| chr1:145091228
|
T | TA | 21 | a0001c0001t0001g0036a0001c0001t0001g0037a0001c0001t0001g0040others(18): Show | 21 | HG00280.hp1 HG00673.hp2 HG00735.hp2 others(18): Show |
intron_variant | MODIFIER | c.67+1606dupT | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145091228 | ||||||
| chr1:145091334
|
G | C | 1 | a0001c0001t0008g0005 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.67+1501C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145091334 | ||||||
| chr1:145091876
|
A | G | 3 | a0003c0003t0004g0054a0003c0003t0004g0055a0008c0007t0018g0001 | 3 | HG02615.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.67+959T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145091876 | ||||||
| chr1:145092137
|
A | T | 1 | a0001c0001t0001g0006 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.67+698T>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | 145092137 | ||||||
| chr1:145093679
|
A | G | 4 | a0001c0001t0008g0005a0003c0003t0004g0054a0003c0003t0004g0055others(1): Show | 4 | HG02257.hp2 HG02615.hp2 HG03490.hp2 others(1): Show |
intron_variant | MODIFIER | c.-542-236T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 1/9 | chr1 | 145093679 | ||||||
| chr1:145093937
|
G | A | 2 | a0003c0003t0004g0054a0003c0003t0004g0055 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.-542-494C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 1/9 | chr1 | 145093937 | ||||||
| chr1:145093960
|
G | A | 1 | a0001c0001t0002g0004 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.-542-517C>T | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 1/9 | chr1 | 145093960 | ||||||
| chr1:145093974
|
C | G | 1 | a0001c0001t0002g0004 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.-542-531G>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 1/9 | chr1 | 145093974 | ||||||
| chr1:145094292
|
G | T | 1 | a0001c0001t0002g0003 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.-542-849C>A | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 1/9 | chr1 | 145094292 | ||||||
| chr1:145094547
|
G | C | 1 | a0001c0001t0001g0056 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.-543+676C>G | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 1/9 | chr1 | 145094547 | ||||||
| chr1:145094980
|
A | G | 2 | a0001c0001t0002g0002a0008c0007t0018g0001 | 2 | HG02615.hp2 HG03831.hp1 |
intron_variant | MODIFIER | c.-543+243T>C | SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 1/9 | chr1 | 145094980 |