Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 389524 |
|---|---|
| ensemblid | ENSG00000174428.19 |
| hgncid | 33125 |
| symbol | GTF2IRD2B |
| name | GTF2I repeat domain containing 2B |
| refseq_nuc | NM_001003795.3 |
| refseq_prot | NP_001003795.1 |
| ensembl_nuc | ENST00000472837.7 |
| ensembl_prot | ENSP00000480524.1 |
| mane_status | MANE Select |
| chr | chr7 |
| start | 75092590 |
| end | 75149817 |
| strand | + |
| ver | v1.2 |
| region | chr7:75092590-75149817 |
| region5000 | chr7:75087590-75154817 |
| regionname0 | GTF2IRD2B_chr7_75092590_75149817 |
| regionname5000 | GTF2IRD2B_chr7_75087590_75154817 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 949 | 139 | 36 | 33 | 38 | 10 | 20 | 18 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0002 | 0/0 | 949 | 16 | 15 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0003 | 0/0 | 949 | 8 | 0 | 0 | 8 | 0 | 0 | 4 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0004 | 0/0 | 949 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0005 | 0/0 | 949 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0006 | 0/0 | 949 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0007 | 0/0 | 949 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0008 | 0/0 | 949 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0009 | 0/0 | 949 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| chapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 1/1 | 2850 | 129 | 28 | 33 | 37 | 10 | 19 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| c0002 | 0/0 | 2850 | 16 | 15 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| c0003 | 0/0 | 2850 | 6 | 0 | 0 | 6 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| c0004 | 0/0 | 2850 | 5 | 4 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| c0005 | 0/0 | 2850 | 3 | 3 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| c0006 | 0/0 | 2850 | 2 | 2 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| c0007 | 0/0 | 2850 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| c0008 | 0/0 | 2850 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| c0009 | 0/0 | 2850 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| c0010 | 0/0 | 2850 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| c0011 | 0/0 | 2850 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| c0012 | 0/0 | 2850 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| c0013 | 0/0 | 2850 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| c0014 | 0/0 | 2850 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| c0015 | 0/0 | 2850 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| thapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 1/1 | 702 | 109 | 26 | 18 | 44 | 6 | 13 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| t0002 | 0/0 | 703 | 18 | 17 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| t0003 | 0/0 | 701 | 12 | 2 | 5 | 1 | 3 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| t0004 | 0/0 | 701 | 9 | 3 | 3 | 2 | 1 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| t0005 | 0/0 | 701 | 7 | 1 | 4 | 1 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| t0006 | 0/0 | 702 | 5 | 0 | 2 | 0 | 0 | 3 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| t0007 | 0/0 | 702 | 3 | 3 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| t0008 | 0/0 | 702 | 3 | 3 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| t0009 | 0/0 | 701 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| t0010 | 0/0 | 703 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| t0011 | 0/0 | 701 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| t0012 | 0/0 | 702 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 2 | 0 | 0 | 0 | 2 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0002 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0003 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0004 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0009 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0010 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0013 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0016 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0018 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0023 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0024 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0027 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0028 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0038 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0045 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0046 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0056 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0071 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0074 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0075 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0076 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0077 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0078 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0079 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0080 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0081 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0084 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0085 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0086 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0087 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0088 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0091 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0103 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0112 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0114 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0115 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0124 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0125 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0131 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0132 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0136 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0146 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0149 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0150 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0151 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0155 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0157 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0158 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0161 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0166 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| g0169 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 2850 | 129 | 28 | 33 | 37 | 10 | 19 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0001c0004 | 0/0 | 2850 | 5 | 4 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0001c0005 | 0/0 | 2850 | 3 | 3 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0001c0010 | 0/0 | 2850 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0001c0015 | 0/0 | 2850 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0002c0002 | 0/0 | 2850 | 16 | 15 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0003c0003 | 0/0 | 2850 | 6 | 0 | 0 | 6 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0003c0009 | 0/0 | 2850 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0003c0011 | 0/0 | 2850 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0004c0006 | 0/0 | 2850 | 2 | 2 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0005c0014 | 0/0 | 2850 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0006c0012 | 0/0 | 2850 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0007c0008 | 0/0 | 2850 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0008c0013 | 0/0 | 2850 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0009c0007 | 0/0 | 2850 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 1/1 | 3551 | 86 | 15 | 18 | 33 | 6 | 12 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0001c0001t0002 | 0/0 | 3552 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0001c0001t0003 | 0/0 | 3550 | 12 | 2 | 5 | 1 | 3 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0001c0001t0004 | 0/0 | 3550 | 8 | 2 | 3 | 2 | 1 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0001c0001t0005 | 0/0 | 3550 | 7 | 1 | 4 | 1 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0001c0001t0006 | 0/0 | 3551 | 5 | 0 | 2 | 0 | 0 | 3 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0001c0001t0007 | 0/0 | 3551 | 3 | 3 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0001c0001t0008 | 0/0 | 3551 | 3 | 3 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0001c0001t0009 | 0/0 | 3550 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0001c0001t0010 | 0/0 | 3552 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0001c0001t0011 | 0/0 | 3550 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0001c0001t0012 | 0/0 | 3551 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0001c0004t0001 | 0/0 | 3551 | 5 | 4 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0001c0005t0001 | 0/0 | 3551 | 3 | 3 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0001c0010t0001 | 0/0 | 3551 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0001c0015t0001 | 0/0 | 3551 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0002c0002t0002 | 0/0 | 3552 | 16 | 15 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0003c0003t0001 | 0/0 | 3551 | 6 | 0 | 0 | 6 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0003c0009t0001 | 0/0 | 3551 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0003c0011t0001 | 0/0 | 3551 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0004c0006t0001 | 0/0 | 3551 | 2 | 2 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0005c0014t0001 | 0/0 | 3551 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0006c0012t0001 | 0/0 | 3551 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0007c0008t0001 | 0/0 | 3551 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0008c0013t0004 | 0/0 | 3550 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| a0009c0007t0002 | 0/0 | 3552 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | copy fasta | chr7 | 75087590 | 75154817 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 2 | 0 | 0 | 0 | 2 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0010 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0016 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0018 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0023 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0024 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0027 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0028 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0038 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0056 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0087 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0088 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0091 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0103 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0112 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0114 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0115 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0124 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0125 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0131 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0132 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0136 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0146 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0149 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0001g0150 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0002g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0003g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0003g0071 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0003g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0003g0074 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0003g0075 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0003g0076 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0003g0077 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0003g0078 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0003g0079 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0003g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0003g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0003g0085 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0004g0004 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0004g0045 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0004g0046 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0004g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0004g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0004g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0004g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0004g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0005g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0005g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0005g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0005g0009 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0005g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0005g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0005g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0006g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0006g0080 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0006g0081 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0006g0084 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0006g0086 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0007g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0007g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0007g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0008g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0008g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0008g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0009g0013 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0010g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0011g0002 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0001t0012g0003 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0004t0001g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0004t0001g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0004t0001g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0004t0001g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0004t0001g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0005t0001g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0005t0001g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0005t0001g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0010t0001g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0001c0015t0001g0151 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0002c0002t0002g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0002c0002t0002g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0002c0002t0002g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0002c0002t0002g0155 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0002c0002t0002g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0002c0002t0002g0157 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0002c0002t0002g0158 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0002c0002t0002g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0002c0002t0002g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0002c0002t0002g0161 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0002c0002t0002g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0002c0002t0002g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0002c0002t0002g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0002c0002t0002g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0002c0002t0002g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0002c0002t0002g0169 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0003c0003t0001g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0003c0003t0001g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0003c0003t0001g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0003c0003t0001g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0003c0003t0001g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0003c0003t0001g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0003c0009t0001g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0003c0011t0001g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0004c0006t0001g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0004c0006t0001g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0005c0014t0001g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0006c0012t0001g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0007c0008t0001g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0008c0013t0004g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| a0009c0007t0002g0166 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0001 | g0027 | EUR | GBR | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG00099 | hp2 | a0001 | c0001 | t0001 | g0136 | EUR | GBR | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG00408 | hp1 | a0001 | c0001 | t0001 | g0113 | EAS | CHS | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG00408 | hp2 | a0001 | c0001 | t0001 | g0128 | EAS | CHS | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG00423 | hp1 | a0001 | c0001 | t0001 | g0135 | EAS | CHS | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG00423 | hp2 | a0001 | c0001 | t0001 | g0105 | EAS | CHS | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG00544 | hp1 | a0001 | c0001 | t0001 | g0121 | EAS | CHS | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG00544 | hp2 | a0001 | c0001 | t0001 | g0127 | EAS | CHS | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG00597 | hp1 | a0001 | c0001 | t0001 | g0063 | EAS | CHS | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG00597 | hp2 | a0001 | c0001 | t0001 | g0043 | EAS | CHS | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG00642 | hp1 | a0001 | c0001 | t0001 | g0103 | AMR | PUR | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG00642 | hp2 | a0001 | c0001 | t0003 | g0085 | AMR | PUR | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG00673 | hp1 | a0001 | c0001 | t0001 | g0036 | EAS | CHS | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG00673 | hp2 | a0003 | c0003 | t0001 | g0033 | EAS | CHS | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG00733 | hp1 | a0001 | c0001 | t0004 | g0057 | AMR | PUR | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG00733 | hp2 | a0001 | c0001 | t0001 | g0090 | AMR | PUR | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG00735 | hp1 | a0001 | c0001 | t0006 | g0080 | AMR | PUR | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG00735 | hp2 | a0001 | c0001 | t0003 | g0077 | AMR | PUR | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG00738 | hp1 | a0001 | c0001 | t0001 | g0060 | AMR | PUR | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG00738 | hp2 | a0001 | c0001 | t0001 | g0051 | AMR | PUR | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG00741 | hp1 | a0001 | c0001 | t0003 | g0070 | AMR | PUR | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG00741 | hp2 | a0001 | c0001 | t0001 | g0091 | AMR | PUR | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG01070 | hp1 | a0001 | c0001 | t0001 | g0039 | AMR | PUR | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG01070 | hp2 | a0001 | c0001 | t0001 | g0115 | AMR | PUR | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG01071 | hp1 | a0001 | c0001 | t0001 | g0012 | AMR | PUR | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG01071 | hp2 | a0001 | c0001 | t0006 | g0072 | AMR | PUR | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG01109 | hp1 | a0002 | c0002 | t0002 | g0169 | AMR | PUR | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG01109 | hp2 | a0001 | c0001 | t0001 | g0094 | AMR | PUR | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG01169 | hp1 | a0001 | c0001 | t0005 | g0014 | AMR | PUR | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG01169 | hp2 | a0001 | c0001 | t0004 | g0004 | AMR | PUR | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG01258 | hp1 | a0001 | c0001 | t0001 | g0149 | AMR | CLM | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG01258 | hp2 | a0001 | c0001 | t0003 | g0074 | AMR | CLM | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG01346 | hp1 | a0001 | c0001 | t0001 | g0088 | AMR | CLM | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG01346 | hp2 | a0001 | c0001 | t0001 | g0025 | AMR | CLM | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG01433 | hp1 | a0001 | c0001 | t0001 | g0059 | AMR | CLM | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG01433 | hp2 | a0001 | c0001 | t0004 | g0046 | AMR | CLM | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG01496 | hp1 | a0001 | c0001 | t0003 | g0078 | AMR | CLM | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG01496 | hp2 | a0001 | c0001 | t0001 | g0058 | AMR | CLM | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG01515 | hp1 | a0001 | c0001 | t0003 | g0071 | EUR | IBS | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG01515 | hp2 | a0001 | c0001 | t0001 | g0018 | EUR | IBS | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG01516 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | IBS | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG01516 | hp2 | a0001 | c0001 | t0003 | g0076 | EUR | IBS | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG01517 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | IBS | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG01517 | hp2 | a0001 | c0001 | t0003 | g0075 | EUR | IBS | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG01891 | hp1 | a0001 | c0001 | t0001 | g0049 | AFR | ACB | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG01891 | hp2 | a0002 | c0002 | t0002 | g0159 | AFR | ACB | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG01934 | hp1 | a0001 | c0001 | t0011 | g0002 | AMR | PEL | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG01934 | hp2 | a0001 | c0001 | t0001 | g0040 | AMR | PEL | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG01975 | hp1 | a0001 | c0001 | t0005 | g0007 | AMR | PEL | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG01975 | hp2 | a0001 | c0001 | t0001 | g0041 | AMR | PEL | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG01993 | hp1 | a0001 | c0001 | t0001 | g0092 | AMR | PEL | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG01993 | hp2 | a0001 | c0001 | t0005 | g0008 | AMR | PEL | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02055 | hp1 | a0001 | c0001 | t0001 | g0130 | AFR | ACB | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02055 | hp2 | a0002 | c0002 | t0002 | g0168 | AFR | ACB | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02074 | hp1 | a0001 | c0001 | t0003 | g0073 | EAS | KHV | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02074 | hp2 | a0001 | c0001 | t0001 | g0118 | EAS | KHV | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02080 | hp1 | a0001 | c0001 | t0001 | g0120 | EAS | KHV | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02080 | hp2 | a0001 | c0001 | t0005 | g0017 | EAS | KHV | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02132 | hp1 | a0007 | c0008 | t0001 | g0126 | EAS | KHV | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02132 | hp2 | a0001 | c0001 | t0001 | g0144 | EAS | KHV | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02145 | hp1 | a0001 | c0001 | t0001 | g0026 | AFR | ACB | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02145 | hp2 | a0001 | c0004 | t0001 | g0005 | AFR | ACB | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02155 | hp1 | a0001 | c0001 | t0001 | g0104 | EAS | CDX | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02155 | hp2 | a0001 | c0001 | t0001 | g0022 | EAS | CDX | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02165 | hp1 | a0003 | c0011 | t0001 | g0037 | EAS | CDX | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02165 | hp2 | a0003 | c0009 | t0001 | g0032 | EAS | CDX | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02258 | hp1 | a0002 | c0002 | t0002 | g0162 | AFR | ACB | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02258 | hp2 | a0001 | c0001 | t0007 | g0099 | AFR | ACB | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02451 | hp1 | a0001 | c0001 | t0007 | g0097 | AFR | ACB | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02451 | hp2 | a0002 | c0002 | t0002 | g0155 | AFR | ACB | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02523 | hp1 | a0006 | c0012 | t0001 | g0134 | EAS | KHV | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02523 | hp2 | a0001 | c0001 | t0001 | g0145 | EAS | KHV | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02615 | hp1 | a0001 | c0001 | t0001 | g0089 | AFR | GWD | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02615 | hp2 | a0001 | c0001 | t0001 | g0050 | AFR | GWD | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02622 | hp1 | a0002 | c0002 | t0002 | g0163 | AFR | GWD | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02622 | hp2 | a0004 | c0006 | t0001 | g0067 | AFR | GWD | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02647 | hp1 | a0001 | c0001 | t0001 | g0146 | AFR | GWD | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02647 | hp2 | a0001 | c0001 | t0008 | g0053 | AFR | GWD | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02683 | hp1 | a0001 | c0001 | t0006 | g0084 | SAS | PJL | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02683 | hp2 | a0001 | c0001 | t0001 | g0087 | SAS | PJL | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02698 | hp1 | a0001 | c0001 | t0009 | g0013 | SAS | PJL | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02698 | hp2 | a0001 | c0001 | t0006 | g0081 | SAS | PJL | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02723 | hp1 | a0001 | c0004 | t0001 | g0098 | AFR | GWD | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02723 | hp2 | a0002 | c0002 | t0002 | g0165 | AFR | GWD | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02735 | hp1 | a0001 | c0001 | t0001 | g0150 | SAS | PJL | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02735 | hp2 | a0001 | c0001 | t0001 | g0124 | SAS | PJL | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02809 | hp1 | a0001 | c0001 | t0004 | g0133 | AFR | GWD | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02809 | hp2 | a0002 | c0002 | t0002 | g0157 | AFR | GWD | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02818 | hp1 | a0001 | c0005 | t0001 | g0143 | AFR | GWD | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02818 | hp2 | a0001 | c0001 | t0007 | g0100 | AFR | GWD | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02895 | hp1 | a0001 | c0005 | t0001 | g0066 | AFR | GWD | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02895 | hp2 | a0002 | c0002 | t0002 | g0167 | AFR | GWD | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02896 | hp1 | a0002 | c0002 | t0002 | g0153 | AFR | GWD | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02896 | hp2 | a0001 | c0005 | t0001 | g0142 | AFR | GWD | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02922 | hp1 | a0001 | c0001 | t0001 | g0109 | AFR | ESN | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02922 | hp2 | a0004 | c0006 | t0001 | g0068 | AFR | ESN | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02976 | hp1 | a0002 | c0002 | t0002 | g0158 | AFR | ESN | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02976 | hp2 | a0001 | c0004 | t0001 | g0147 | AFR | ESN | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG03041 | hp1 | a0001 | c0001 | t0001 | g0123 | AFR | GWD | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG03041 | hp2 | a0001 | c0001 | t0004 | g0107 | AFR | GWD | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG03139 | hp1 | a0001 | c0010 | t0001 | g0069 | AFR | ESN | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG03139 | hp2 | a0001 | c0001 | t0008 | g0055 | AFR | ESN | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG03209 | hp1 | a0001 | c0001 | t0001 | g0047 | AFR | MSL | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG03209 | hp2 | a0001 | c0001 | t0001 | g0093 | AFR | MSL | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG03225 | hp1 | a0002 | c0002 | t0002 | g0160 | AFR | MSL | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG03225 | hp2 | a0001 | c0001 | t0001 | g0048 | AFR | MSL | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG03239 | hp1 | a0001 | c0001 | t0001 | g0112 | SAS | PJL | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG03239 | hp2 | a0001 | c0015 | t0001 | g0151 | SAS | PJL | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG03453 | hp1 | a0002 | c0002 | t0002 | g0161 | AFR | MSL | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG03453 | hp2 | a0001 | c0001 | t0001 | g0111 | AFR | MSL | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG03491 | hp1 | a0001 | c0001 | t0001 | g0131 | SAS | PJL | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG03491 | hp2 | a0001 | c0001 | t0001 | g0038 | SAS | PJL | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG03516 | hp1 | a0002 | c0002 | t0002 | g0154 | AFR | ESN | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG03516 | hp2 | a0001 | c0001 | t0003 | g0082 | AFR | ESN | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG03540 | hp1 | a0001 | c0001 | t0002 | g0164 | AFR | GWD | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG03540 | hp2 | a0001 | c0001 | t0010 | g0148 | AFR | GWD | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG03927 | hp1 | a0001 | c0001 | t0005 | g0009 | SAS | BEB | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG03927 | hp2 | a0001 | c0001 | t0001 | g0028 | SAS | BEB | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG03942 | hp1 | a0001 | c0001 | t0001 | g0132 | SAS | BEB | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG03942 | hp2 | a0001 | c0001 | t0001 | g0023 | SAS | BEB | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG04184 | hp1 | a0001 | c0001 | t0012 | g0003 | SAS | BEB | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG04184 | hp2 | a0001 | c0001 | t0001 | g0010 | SAS | BEB | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG04204 | hp1 | a0001 | c0001 | t0001 | g0056 | SAS | STU | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG04204 | hp2 | a0001 | c0001 | t0006 | g0086 | SAS | STU | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| NA18522 | hp1 | a0001 | c0001 | t0003 | g0083 | AFR | YRI | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| NA18522 | hp2 | a0001 | c0001 | t0001 | g0108 | AFR | YRI | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0061 | EAS | CHB | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| NA18612 | hp2 | a0001 | c0001 | t0001 | g0029 | EAS | CHB | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| NA18747 | hp1 | a0001 | c0001 | t0001 | g0116 | EAS | CHB | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| NA18747 | hp2 | a0003 | c0003 | t0001 | g0031 | EAS | CHB | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| NA18906 | hp1 | a0005 | c0014 | t0001 | g0011 | AFR | YRI | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| NA18906 | hp2 | a0009 | c0007 | t0002 | g0166 | AFR | YRI | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| NA18939 | hp1 | a0001 | c0001 | t0001 | g0062 | EAS | JPT | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| NA18939 | hp2 | a0001 | c0001 | t0001 | g0044 | EAS | JPT | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| NA18945 | hp1 | a0001 | c0001 | t0001 | g0020 | EAS | JPT | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| NA18945 | hp2 | a0001 | c0001 | t0001 | g0122 | EAS | JPT | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| NA18950 | hp1 | a0001 | c0001 | t0001 | g0110 | EAS | JPT | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| NA18950 | hp2 | a0001 | c0001 | t0001 | g0129 | EAS | JPT | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| NA18988 | hp1 | a0001 | c0001 | t0001 | g0095 | EAS | JPT | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| NA18988 | hp2 | a0003 | c0003 | t0001 | g0030 | EAS | JPT | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| NA19004 | hp1 | a0001 | c0001 | t0001 | g0137 | EAS | JPT | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| NA19004 | hp2 | a0003 | c0003 | t0001 | g0140 | EAS | JPT | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| NA19007 | hp1 | a0001 | c0001 | t0001 | g0117 | EAS | JPT | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| NA19007 | hp2 | a0001 | c0001 | t0001 | g0021 | EAS | JPT | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| NA19056 | hp1 | a0003 | c0003 | t0001 | g0035 | EAS | JPT | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| NA19056 | hp2 | a0001 | c0004 | t0001 | g0054 | EAS | JPT | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| NA19064 | hp1 | a0003 | c0003 | t0001 | g0034 | EAS | JPT | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| NA19064 | hp2 | a0001 | c0001 | t0001 | g0065 | EAS | JPT | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| NA19066 | hp1 | a0001 | c0001 | t0001 | g0101 | EAS | JPT | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| NA19066 | hp2 | a0001 | c0001 | t0001 | g0138 | EAS | JPT | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| NA19083 | hp1 | a0001 | c0001 | t0001 | g0019 | EAS | JPT | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| NA19083 | hp2 | a0001 | c0001 | t0004 | g0139 | EAS | JPT | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| NA19240 | hp1 | a0002 | c0002 | t0002 | g0156 | AFR | YRI | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| NA19240 | hp2 | a0001 | c0004 | t0001 | g0096 | AFR | YRI | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| NA20752 | hp1 | a0001 | c0001 | t0004 | g0045 | EUR | TSI | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| NA20752 | hp2 | a0001 | c0001 | t0001 | g0125 | EUR | TSI | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| NA20905 | hp1 | a0001 | c0001 | t0003 | g0079 | SAS | GIH | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| NA20905 | hp2 | a0001 | c0001 | t0001 | g0114 | SAS | GIH | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG01123 | hp1 | a0001 | c0001 | t0001 | g0106 | AMR | CLM | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG01123 | hp2 | a0001 | c0001 | t0005 | g0006 | AMR | CLM | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02486 | hp1 | a0001 | c0001 | t0005 | g0015 | AFR | ACB | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG02486 | hp2 | a0002 | c0002 | t0002 | g0152 | AFR | ACB | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG03471 | hp1 | a0001 | c0001 | t0008 | g0052 | AFR | MSL | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG03471 | hp2 | a0008 | c0013 | t0004 | g0141 | AFR | MSL | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG06807 | hp1 | a0001 | c0001 | t0001 | g0102 | AFR | USA | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| HG06807 | hp2 | a0001 | c0001 | t0001 | g0042 | AFR | USA | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| NA18955 | hp1 | a0001 | c0001 | t0001 | g0119 | EAS | JPT | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| NA18955 | hp2 | a0001 | c0001 | t0004 | g0064 | EAS | JPT | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0001 | g0016 | REF | REF | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| homoSapiens_grch38 | hp1 | a0001 | c0001 | t0001 | g0024 | REF | REF | GTF2IRD2B_chr7_75087590_75154817 | GTF2IRD2B | chr7 | 75087590 | 75154817 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:75112475
|
G | A | 1 | a0004 | 2 | HG02622.hp2 HG02922.hp2 |
missense_variant | MODERATE | c.178G>A | p.Glu60Lys | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/16 | 359/3551 | 178/2850 | 60/949 | chr7 | 75112475 | ||
| chr7:75120954
|
C | T | 1 | a0005 | 1 | NA18906.hp1 | missense_variant | MODERATE | c.302C>T | p.Ser101Leu | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 4/16 | 483/3551 | 302/2850 | 101/949 | chr7 | 75120954 | ||
| chr7:75120969
|
T | C | 1 | a0009 | 1 | NA18906.hp2 | missense_variant | MODERATE | c.317T>C | p.Ile106Thr | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 4/16 | 498/3551 | 317/2850 | 106/949 | chr7 | 75120969 | ||
| chr7:75123159
|
A | G | 1 | a0008 | 1 | HG03471.hp2 | missense_variant | MODERATE | c.382A>G | p.Met128Val | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 5/16 | 563/3551 | 382/2850 | 128/949 | chr7 | 75123159 | ||
| chr7:75126346
|
G | A | 2 | a0002a0009 | 17 | HG01109.hp1 HG01891.hp2 HG02055.hp2 others(14): Show |
missense_variant | MODERATE | c.631G>A | p.Gly211Ser | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/16 | 812/3551 | 631/2850 | 211/949 | chr7 | 75126346 | ||
| chr7:75135013
|
C | G | 1 | a0006 | 1 | HG02523.hp1 | missense_variant | MODERATE | c.761C>G | p.Ser254Cys | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 10/16 | 942/3551 | 761/2850 | 254/949 | chr7 | 75135013 | ||
| chr7:75148237
|
T | C | 1 | a0007 | 1 | HG02132.hp1 | missense_variant | MODERATE | c.1790T>C | p.Leu597Ser | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 16/16 | 1971/3551 | 1790/2850 | 597/949 | chr7 | 75148237 | ||
| chr7:75148272
|
A | G | 1 | a0007 | 1 | HG02132.hp1 | missense_variant | MODERATE | c.1825A>G | p.Asn609Asp | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 16/16 | 2006/3551 | 1825/2850 | 609/949 | chr7 | 75148272 | ||
| chr7:75148740
|
G | A | 1 | a0003 | 8 | HG00673.hp2 HG02165.hp1 HG02165.hp2 others(5): Show |
missense_variant | MODERATE | c.2293G>A | p.Ala765Thr | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 16/16 | 2474/3551 | 2293/2850 | 765/949 | chr7 | 75148740 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:75112486
|
C | T | 1 | a0001c0015 | 1 | HG03239.hp2 | synonymous_variant | LOW | c.189C>T | p.Cys63Cys | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/16 | 370/3551 | 189/2850 | 63/949 | chr7 | 75112486 | ||
| chr7:75120955
|
G | A | 1 | a0001c0005 | 3 | HG02818.hp1 HG02895.hp1 HG02896.hp2 |
synonymous_variant | LOW | c.303G>A | p.Ser101Ser | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 4/16 | 484/3551 | 303/2850 | 101/949 | chr7 | 75120955 | ||
| chr7:75123221
|
T | G | 2 | a0001c0004a0004c0006 | 7 | HG02145.hp2 HG02622.hp2 HG02723.hp1 others(4): Show |
synonymous_variant | LOW | c.444T>G | p.Leu148Leu | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 5/16 | 625/3551 | 444/2850 | 148/949 | chr7 | 75123221 | ||
| chr7:75135020
|
A | G | 1 | a0001c0005 | 3 | HG02818.hp1 HG02895.hp1 HG02896.hp2 |
synonymous_variant | LOW | c.768A>G | p.Thr256Thr | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 10/16 | 949/3551 | 768/2850 | 256/949 | chr7 | 75135020 | ||
| chr7:75139008
|
C | T | 2 | a0003c0003a0003c0011 | 7 | HG00673.hp2 HG02165.hp1 NA18747.hp2 others(4): Show |
synonymous_variant | LOW | c.930C>T | p.Ile310Ile | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 12/16 | 1111/3551 | 930/2850 | 310/949 | chr7 | 75139008 | ||
| chr7:75148418
|
G | A | 1 | a0001c0005 | 3 | HG02818.hp1 HG02895.hp1 HG02896.hp2 |
synonymous_variant | LOW | c.1971G>A | p.Pro657Pro | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 16/16 | 2152/3551 | 1971/2850 | 657/949 | chr7 | 75148418 | ||
| chr7:75149033
|
C | T | 1 | a0003c0011 | 1 | HG02165.hp1 | synonymous_variant | LOW | c.2586C>T | p.His862His | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 16/16 | 2767/3551 | 2586/2850 | 862/949 | chr7 | 75149033 | ||
| chr7:75149144
|
G | A | 2 | a0001c0005a0001c0010 | 4 | HG02818.hp1 HG02895.hp1 HG02896.hp2 others(1): Show |
synonymous_variant | LOW | c.2697G>A | p.Pro899Pro | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 16/16 | 2878/3551 | 2697/2850 | 899/949 | chr7 | 75149144 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:75092627
|
C | T | 3 | a0001c0001t0008a0001c0001t0011a0001c0001t0012 | 5 | HG01934.hp1 HG02647.hp2 HG03139.hp2 others(2): Show |
5_prime_UTR_variant | MODIFIER | c.-144C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/16 | 16338 | chr7 | 75092627 | |||||
| chr7:75092663
|
C | T | 3 | a0001c0001t0002a0002c0002t0002a0009c0007t0002 | 18 | HG01109.hp1 HG01891.hp2 HG02055.hp2 others(15): Show |
5_prime_UTR_variant | MODIFIER | c.-108C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/16 | 16302 | chr7 | 75092663 | |||||
| chr7:75092679
|
C | T | 2 | a0001c0001t0011a0001c0001t0012 | 2 | HG01934.hp1 HG04184.hp1 |
5_prime_UTR_variant | MODIFIER | c.-92C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/16 | 16286 | chr7 | 75092679 | |||||
| chr7:75092701
|
G | C | 2 | a0001c0001t0003a0001c0001t0006 | 17 | HG00642.hp2 HG00735.hp1 HG00735.hp2 others(14): Show |
5_prime_UTR_variant | MODIFIER | c.-70G>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/16 | 16264 | chr7 | 75092701 | |||||
| chr7:75149398
|
T | C | 1 | a0001c0001t0009 | 1 | HG02698.hp1 | 3_prime_UTR_variant | MODIFIER | c.*101T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 16/16 | 101 | chr7 | 75149398 | |||||
| chr7:75149408
|
T | C | 1 | a0001c0001t0007 | 3 | HG02258.hp2 HG02451.hp1 HG02818.hp2 |
3_prime_UTR_variant | MODIFIER | c.*111T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 16/16 | 111 | chr7 | 75149408 | |||||
| chr7:75149656
|
G | A | 2 | a0001c0001t0005a0001c0001t0011 | 8 | HG01123.hp2 HG01169.hp1 HG01934.hp1 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*359G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 16/16 | 359 | chr7 | 75149656 | |||||
| chr7:75149697
|
C | CT | 4 | a0001c0001t0002a0001c0001t0010a0002c0002t0002others(1): Show | 19 | HG01109.hp1 HG01891.hp2 HG02055.hp2 others(16): Show |
3_prime_UTR_variant | MODIFIER | c.*413dupT | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 16/16 | 414 | INFO_REALIGN_3_PRIME | chr7 | 75149697 | ||||
| chr7:75149697
|
CT | C | 6 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(3): Show | 30 | HG00642.hp2 HG00733.hp1 HG00735.hp2 others(27): Show |
3_prime_UTR_variant | MODIFIER | c.*413delT | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 16/16 | 413 | INFO_REALIGN_3_PRIME | chr7 | 75149697 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:75092836
|
C | G | 18 | a0001c0001t0002g0164a0002c0002t0002g0152a0002c0002t0002g0153others(15): Show | 18 | HG01109.hp1 HG01891.hp2 HG02055.hp2 others(15): Show |
intron_variant | MODIFIER | c.-6+71C>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75092836 | ||||||
| chr7:75093006
|
C | G | 126 | a0001c0001t0001g0001a0001c0001t0001g0047a0001c0001t0001g0048others(123): Show | 127 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(124): Show |
intron_variant | MODIFIER | c.-6+241C>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75093006 | ||||||
| chr7:75093051
|
G | A | 2 | a0001c0001t0011g0002a0001c0001t0012g0003 | 2 | HG01934.hp1 HG04184.hp1 |
intron_variant | MODIFIER | c.-6+286G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75093051 | ||||||
| chr7:75093094
|
G | T | 1 | a0001c0001t0001g0044 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.-6+329G>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75093094 | ||||||
| chr7:75093095
|
CGCTGCGT others(26): Show |
C | 5 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(2): Show | 5 | HG00597.hp2 HG01070.hp1 HG01934.hp2 others(2): Show |
intron_variant | MODIFIER | c.-6+332_-6+364delCT others(31): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | 75093095 | |||||
| chr7:75093098
|
T | C | 1 | a0001c0001t0004g0045 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.-6+333T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75093098 | ||||||
| chr7:75093244
|
C | T | 1 | a0001c0015t0001g0151 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.-6+479C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75093244 | ||||||
| chr7:75093248
|
C | T | 1 | a0001c0001t0001g0150 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.-6+483C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75093248 | ||||||
| chr7:75093279
|
A | G | 1 | a0001c0001t0001g0149 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.-6+514A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75093279 | ||||||
| chr7:75093532
|
C | T | 4 | a0001c0001t0010g0148a0001c0001t0011g0002a0001c0001t0012g0003others(1): Show | 4 | HG01934.hp1 HG02976.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.-6+767C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75093532 | ||||||
| chr7:75093634
|
C | T | 4 | a0001c0001t0010g0148a0001c0001t0011g0002a0001c0001t0012g0003others(1): Show | 4 | HG01934.hp1 HG02976.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.-6+869C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75093634 | ||||||
| chr7:75093705
|
A | G | 1 | a0001c0001t0001g0038 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.-6+940A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75093705 | ||||||
| chr7:75093835
|
T | C | 2 | a0001c0001t0010g0148a0001c0004t0001g0147 | 2 | HG02976.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.-6+1070T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75093835 | ||||||
| chr7:75094096
|
G | A | 17 | a0001c0001t0002g0164a0002c0002t0002g0152a0002c0002t0002g0153others(14): Show | 17 | HG01891.hp2 HG02055.hp2 HG02258.hp1 others(14): Show |
intron_variant | MODIFIER | c.-6+1331G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75094096 | ||||||
| chr7:75094128
|
T | C | 1 | a0001c0001t0004g0046 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.-6+1363T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75094128 | ||||||
| chr7:75094330
|
A | G | 14 | a0001c0001t0002g0164a0002c0002t0002g0155a0002c0002t0002g0156others(11): Show | 14 | HG01891.hp2 HG02055.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.-6+1565A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75094330 | ||||||
| chr7:75094393
|
G | A | 1 | a0001c0001t0001g0039 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.-6+1628G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75094393 | ||||||
| chr7:75094751
|
C | T | 1 | a0001c0001t0010g0148 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.-6+1986C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75094751 | ||||||
| chr7:75095069
|
A | G | 1 | a0001c0001t0001g0146 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-6+2304A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75095069 | ||||||
| chr7:75095113
|
ATTG | A | 3 | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0001t0001g0049 | 3 | HG01891.hp1 HG03209.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.-6+2357_-6+2359del others(3): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | 75095113 | |||||
| chr7:75095164
|
G | A | 17 | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0038others(14): Show | 17 | HG01070.hp1 HG01071.hp1 HG01123.hp2 others(14): Show |
intron_variant | MODIFIER | c.-6+2399G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75095164 | ||||||
| chr7:75095185
|
G | A | 3 | a0001c0001t0001g0016a0001c0001t0001g0050a0001c0001t0001g0051 | 3 | HG00738.hp2 HG02615.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.-6+2420G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75095185 | ||||||
| chr7:75095229
|
T | C | 6 | a0001c0001t0001g0056a0001c0001t0004g0057a0001c0001t0008g0052others(3): Show | 6 | HG00733.hp1 HG02647.hp2 HG03139.hp2 others(3): Show |
intron_variant | MODIFIER | c.-6+2464T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75095229 | ||||||
| chr7:75095536
|
T | C | 73 | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0038others(70): Show | 73 | HG00597.hp1 HG00642.hp2 HG00735.hp1 others(70): Show |
intron_variant | MODIFIER | c.-6+2771T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75095536 | ||||||
| chr7:75095564
|
A | G | 2 | a0001c0001t0001g0144a0001c0001t0001g0145 | 2 | HG02132.hp2 HG02523.hp2 |
intron_variant | MODIFIER | c.-6+2799A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75095564 | ||||||
| chr7:75095585
|
G | A | 1 | a0001c0001t0001g0087 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.-6+2820G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75095585 | ||||||
| chr7:75096264
|
T | G | 83 | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0039others(80): Show | 84 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(81): Show |
intron_variant | MODIFIER | c.-6+3499T>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75096264 | ||||||
| chr7:75096422
|
AT | A | 21 | a0001c0001t0002g0164a0001c0001t0010g0148a0001c0004t0001g0147others(18): Show | 21 | HG01109.hp1 HG01891.hp2 HG02055.hp2 others(18): Show |
intron_variant | MODIFIER | c.-6+3674delT | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | 75096422 | |||||
| chr7:75096580
|
C | T | 36 | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0038others(33): Show | 36 | HG00642.hp2 HG00735.hp1 HG00735.hp2 others(33): Show |
intron_variant | MODIFIER | c.-6+3815C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75096580 | ||||||
| chr7:75096718
|
G | A | 85 | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0039others(82): Show | 86 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(83): Show |
intron_variant | MODIFIER | c.-6+3953G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75096718 | ||||||
| chr7:75096746
|
C | T | 6 | a0001c0001t0004g0046a0001c0001t0005g0017a0001c0001t0011g0002others(3): Show | 6 | HG01433.hp2 HG01934.hp1 HG02080.hp2 others(3): Show |
intron_variant | MODIFIER | c.-6+3981C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75096746 | ||||||
| chr7:75096754
|
A | C | 35 | a0001c0001t0001g0036a0001c0001t0001g0150a0001c0001t0002g0164others(32): Show | 35 | HG00673.hp1 HG00673.hp2 HG01109.hp1 others(32): Show |
intron_variant | MODIFIER | c.-6+3989A>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75096754 | ||||||
| chr7:75097111
|
C | T | 1 | a0003c0003t0001g0140 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.-6+4346C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75097111 | ||||||
| chr7:75097311
|
C | CA | 58 | a0001c0001t0001g0001a0001c0001t0001g0018a0001c0001t0001g0043others(55): Show | 59 | HG00597.hp2 HG00642.hp2 HG00733.hp2 others(56): Show |
intron_variant | MODIFIER | c.-6+4568dupA | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | 75097311 | |||||
| chr7:75097311
|
CAAAAAA | C | 8 | a0001c0001t0001g0036a0003c0003t0001g0030a0003c0003t0001g0031others(5): Show | 8 | HG00673.hp1 HG00673.hp2 HG02165.hp1 others(5): Show |
intron_variant | MODIFIER | c.-6+4563_-6+4568del others(6): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | 75097311 | |||||
| chr7:75097399
|
G | A | 2 | a0001c0001t0001g0047a0001c0001t0001g0048 | 2 | HG03209.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.-6+4634G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75097399 | ||||||
| chr7:75097653
|
G | A | 101 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0012others(98): Show | 102 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(99): Show |
intron_variant | MODIFIER | c.-6+4888G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75097653 | ||||||
| chr7:75097823
|
C | T | 11 | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0038others(8): Show | 11 | HG01071.hp1 HG01123.hp2 HG01169.hp1 others(8): Show |
intron_variant | MODIFIER | c.-6+5058C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75097823 | ||||||
| chr7:75098017
|
G | A | 16 | a0001c0001t0003g0070a0001c0001t0003g0071a0001c0001t0003g0073others(13): Show | 16 | HG00642.hp2 HG00735.hp1 HG00735.hp2 others(13): Show |
intron_variant | MODIFIER | c.-6+5252G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75098017 | ||||||
| chr7:75098225
|
C | A | 2 | a0001c0001t0005g0017a0001c0001t0011g0002 | 2 | HG01934.hp1 HG02080.hp2 |
intron_variant | MODIFIER | c.-6+5460C>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75098225 | ||||||
| chr7:75098309
|
C | T | 1 | a0001c0001t0001g0001 | 2 | HG01516.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.-6+5544C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75098309 | ||||||
| chr7:75098324
|
T | C | 8 | a0001c0001t0001g0036a0003c0003t0001g0030a0003c0003t0001g0031others(5): Show | 8 | HG00673.hp1 HG00673.hp2 HG02165.hp1 others(5): Show |
intron_variant | MODIFIER | c.-6+5559T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75098324 | ||||||
| chr7:75098419
|
C | T | 148 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0012others(145): Show | 149 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(146): Show |
intron_variant | MODIFIER | c.-6+5654C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75098419 | ||||||
| chr7:75098558
|
G | A | 1 | a0004c0006t0001g0067 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.-6+5793G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75098558 | ||||||
| chr7:75098629
|
C | T | 73 | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0043others(70): Show | 74 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(71): Show |
intron_variant | MODIFIER | c.-6+5864C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75098629 | ||||||
| chr7:75098790
|
A | G | 53 | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0038others(50): Show | 53 | HG00099.hp2 HG00597.hp1 HG01070.hp1 others(50): Show |
intron_variant | MODIFIER | c.-6+6025A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75098790 | ||||||
| chr7:75098867
|
G | T | 161 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0012others(158): Show | 162 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(159): Show |
intron_variant | MODIFIER | c.-6+6102G>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75098867 | ||||||
| chr7:75098962
|
G | A | 1 | a0001c0001t0001g0088 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.-6+6197G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75098962 | ||||||
| chr7:75099053
|
G | C | 1 | a0001c0001t0001g0150 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.-6+6288G>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75099053 | ||||||
| chr7:75099081
|
T | C | 1 | a0001c0004t0001g0054 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.-6+6316T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75099081 | ||||||
| chr7:75099263
|
TA | T | 53 | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0038others(50): Show | 53 | HG00642.hp2 HG00735.hp1 HG00735.hp2 others(50): Show |
intron_variant | MODIFIER | c.-6+6512delA | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | 75099263 | |||||
| chr7:75099263
|
TAA | T | 92 | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0039others(89): Show | 93 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(90): Show |
intron_variant | MODIFIER | c.-6+6511_-6+6512del others(2): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | 75099263 | |||||
| chr7:75099573
|
A | G | 1 | a0001c0001t0001g0135 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.-6+6808A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75099573 | ||||||
| chr7:75099590
|
T | G | 1 | a0001c0005t0001g0066 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-6+6825T>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75099590 | ||||||
| chr7:75099693
|
C | T | 1 | a0006c0012t0001g0134 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.-6+6928C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75099693 | ||||||
| chr7:75099734
|
C | T | 2 | a0001c0005t0001g0142a0001c0005t0001g0143 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.-6+6969C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75099734 | ||||||
| chr7:75099737
|
A | AAAAT | 10 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(7): Show | 10 | HG00597.hp2 HG01169.hp2 HG01975.hp2 others(7): Show |
intron_variant | MODIFIER | c.-6+7016_-6+7019dup others(4): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | 75099737 | |||||
| chr7:75099737
|
A | AAAATAAA others(1): Show |
3 | a0001c0001t0001g0039a0001c0001t0001g0095a0001c0001t0001g0135 | 3 | HG00423.hp1 HG01070.hp1 NA18988.hp1 |
intron_variant | MODIFIER | c.-6+7012_-6+7019dup others(8): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | 75099737 | |||||
| chr7:75099737
|
AAAAT | A | 33 | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0018others(30): Show | 33 | HG00642.hp1 HG00735.hp1 HG00735.hp2 others(30): Show |
intron_variant | MODIFIER | c.-6+7016_-6+7019del others(4): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | 75099737 | |||||
| chr7:75099737
|
AAAATAAA others(1): Show |
A | 19 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(16): Show | 19 | HG00099.hp1 HG00673.hp1 HG00673.hp2 others(16): Show |
intron_variant | MODIFIER | c.-6+7012_-6+7019del others(8): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | 75099737 | |||||
| chr7:75099737
|
AAAATAAA others(5): Show |
A | 2 | a0001c0001t0004g0045a0001c0004t0001g0096 | 2 | NA19240.hp2 NA20752.hp1 |
intron_variant | MODIFIER | c.-6+7008_-6+7019del others(12): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | 75099737 | |||||
| chr7:75099737
|
AAAATAAA others(21): Show |
A | 18 | a0001c0001t0002g0164a0002c0002t0002g0152a0002c0002t0002g0153others(15): Show | 18 | HG01109.hp1 HG01891.hp2 HG02055.hp2 others(15): Show |
intron_variant | MODIFIER | c.-6+6992_-6+7019del others(28): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | 75099737 | |||||
| chr7:75099781
|
T | A | 1 | a0001c0001t0004g0045 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.-6+7016T>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75099781 | ||||||
| chr7:75099859
|
T | A | 159 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0012others(156): Show | 160 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(157): Show |
intron_variant | MODIFIER | c.-6+7094T>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75099859 | ||||||
| chr7:75099922
|
G | C | 2 | a0001c0005t0001g0142a0001c0005t0001g0143 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.-6+7157G>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75099922 | ||||||
| chr7:75100256
|
C | CA | 12 | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0038others(9): Show | 12 | HG01071.hp1 HG01123.hp2 HG01169.hp1 others(9): Show |
intron_variant | MODIFIER | c.-6+7504dupA | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | 75100256 | |||||
| chr7:75100289
|
C | CG | 76 | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0043others(73): Show | 77 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(74): Show |
intron_variant | MODIFIER | c.-6+7524_-6+7525ins others(1): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75100289 | ||||||
| chr7:75100289
|
C | CGT | 3 | a0001c0001t0001g0095a0001c0004t0001g0096a0001c0004t0001g0098 | 3 | HG02723.hp1 NA18988.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.-6+7524_-6+7525ins others(2): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75100289 | ||||||
| chr7:75100460
|
C | T | 2 | a0001c0001t0001g0029a0001c0001t0004g0046 | 2 | HG01433.hp2 NA18612.hp2 |
intron_variant | MODIFIER | c.-6+7695C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75100460 | ||||||
| chr7:75100831
|
G | A | 1 | a0001c0001t0004g0045 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.-6+8066G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75100831 | ||||||
| chr7:75101048
|
A | T | 18 | a0001c0001t0002g0164a0002c0002t0002g0152a0002c0002t0002g0153others(15): Show | 18 | HG01109.hp1 HG01891.hp2 HG02055.hp2 others(15): Show |
intron_variant | MODIFIER | c.-5-7912A>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75101048 | ||||||
| chr7:75101192
|
C | T | 2 | a0001c0001t0007g0099a0001c0001t0007g0100 | 2 | HG02258.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.-5-7768C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75101192 | ||||||
| chr7:75101349
|
T | C | 10 | a0001c0001t0001g0029a0001c0001t0001g0039a0001c0001t0001g0040others(7): Show | 10 | HG01070.hp1 HG01934.hp1 HG01934.hp2 others(7): Show |
intron_variant | MODIFIER | c.-5-7611T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75101349 | ||||||
| chr7:75101400
|
C | T | 10 | a0001c0001t0001g0029a0001c0001t0001g0039a0001c0001t0001g0040others(7): Show | 10 | HG01070.hp1 HG01934.hp1 HG01934.hp2 others(7): Show |
intron_variant | MODIFIER | c.-5-7560C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75101400 | ||||||
| chr7:75101522
|
C | T | 10 | a0001c0001t0001g0029a0001c0001t0001g0039a0001c0001t0001g0040others(7): Show | 10 | HG01070.hp1 HG01934.hp1 HG01934.hp2 others(7): Show |
intron_variant | MODIFIER | c.-5-7438C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75101522 | ||||||
| chr7:75101550
|
T | G | 10 | a0001c0001t0001g0029a0001c0001t0001g0039a0001c0001t0001g0040others(7): Show | 10 | HG01070.hp1 HG01934.hp1 HG01934.hp2 others(7): Show |
intron_variant | MODIFIER | c.-5-7410T>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75101550 | ||||||
| chr7:75101704
|
G | A | 10 | a0001c0001t0001g0029a0001c0001t0001g0039a0001c0001t0001g0040others(7): Show | 10 | HG01070.hp1 HG01934.hp1 HG01934.hp2 others(7): Show |
intron_variant | MODIFIER | c.-5-7256G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75101704 | ||||||
| chr7:75101815
|
G | A | 10 | a0001c0001t0001g0029a0001c0001t0001g0039a0001c0001t0001g0040others(7): Show | 10 | HG01070.hp1 HG01934.hp1 HG01934.hp2 others(7): Show |
intron_variant | MODIFIER | c.-5-7145G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75101815 | ||||||
| chr7:75101823
|
G | A | 78 | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0043others(75): Show | 79 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(76): Show |
intron_variant | MODIFIER | c.-5-7137G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75101823 | ||||||
| chr7:75101893
|
C | CA | 96 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0012others(93): Show | 97 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(94): Show |
intron_variant | MODIFIER | c.-5-7047dupA | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | 75101893 | |||||
| chr7:75101893
|
CAAAA | C | 10 | a0001c0001t0001g0029a0001c0001t0001g0039a0001c0001t0001g0040others(7): Show | 10 | HG01070.hp1 HG01934.hp1 HG01934.hp2 others(7): Show |
intron_variant | MODIFIER | c.-5-7050_-5-7047del others(4): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | 75101893 | |||||
| chr7:75101920
|
T | A | 2 | a0001c0005t0001g0142a0001c0005t0001g0143 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.-5-7040T>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75101920 | ||||||
| chr7:75101961
|
T | G | 23 | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0029others(20): Show | 23 | HG01070.hp1 HG01071.hp1 HG01123.hp2 others(20): Show |
intron_variant | MODIFIER | c.-5-6999T>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75101961 | ||||||
| chr7:75102069
|
C | T | 1 | a0001c0001t0001g0128 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.-5-6891C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75102069 | ||||||
| chr7:75102236
|
T | C | 10 | a0001c0001t0001g0029a0001c0001t0001g0039a0001c0001t0001g0040others(7): Show | 10 | HG01070.hp1 HG01934.hp1 HG01934.hp2 others(7): Show |
intron_variant | MODIFIER | c.-5-6724T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75102236 | ||||||
| chr7:75102252
|
C | T | 2 | a0001c0005t0001g0142a0001c0005t0001g0143 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.-5-6708C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75102252 | ||||||
| chr7:75102384
|
C | T | 10 | a0001c0001t0001g0029a0001c0001t0001g0039a0001c0001t0001g0040others(7): Show | 10 | HG01070.hp1 HG01934.hp1 HG01934.hp2 others(7): Show |
intron_variant | MODIFIER | c.-5-6576C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75102384 | ||||||
| chr7:75102469
|
G | T | 7 | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0001t0001g0049others(4): Show | 7 | HG01891.hp1 HG02647.hp1 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.-5-6491G>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75102469 | ||||||
| chr7:75102536
|
C | T | 10 | a0001c0001t0001g0029a0001c0001t0001g0039a0001c0001t0001g0040others(7): Show | 10 | HG01070.hp1 HG01934.hp1 HG01934.hp2 others(7): Show |
intron_variant | MODIFIER | c.-5-6424C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75102536 | ||||||
| chr7:75102605
|
G | A | 1 | a0001c0004t0001g0005 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.-5-6355G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75102605 | ||||||
| chr7:75102614
|
G | A | 6 | a0001c0001t0001g0029a0001c0001t0001g0039a0001c0001t0001g0040others(3): Show | 6 | HG01070.hp1 HG01934.hp2 HG01975.hp2 others(3): Show |
intron_variant | MODIFIER | c.-5-6346G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75102614 | ||||||
| chr7:75102672
|
A | G | 1 | a0001c0001t0004g0057 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.-5-6288A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75102672 | ||||||
| chr7:75102755
|
C | T | 17 | a0001c0001t0003g0070a0001c0001t0003g0071a0001c0001t0003g0073others(14): Show | 17 | HG00642.hp2 HG00735.hp1 HG00735.hp2 others(14): Show |
intron_variant | MODIFIER | c.-5-6205C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75102755 | ||||||
| chr7:75102859
|
T | G | 21 | a0001c0001t0002g0164a0001c0001t0004g0046a0002c0002t0002g0152others(18): Show | 21 | HG01109.hp1 HG01433.hp2 HG01891.hp2 others(18): Show |
intron_variant | MODIFIER | c.-5-6101T>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75102859 | ||||||
| chr7:75102895
|
G | A | 3 | a0001c0001t0001g0029a0001c0001t0005g0017a0001c0001t0011g0002 | 3 | HG01934.hp1 HG02080.hp2 NA18612.hp2 |
intron_variant | MODIFIER | c.-5-6065G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75102895 | ||||||
| chr7:75102918
|
C | G | 1 | a0001c0001t0010g0148 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.-5-6042C>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75102918 | ||||||
| chr7:75102970
|
A | C | 11 | a0001c0001t0001g0025a0001c0001t0001g0029a0001c0001t0001g0039others(8): Show | 11 | HG01070.hp1 HG01346.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.-5-5990A>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75102970 | ||||||
| chr7:75102980
|
C | T | 11 | a0001c0001t0001g0025a0001c0001t0001g0029a0001c0001t0001g0039others(8): Show | 11 | HG01070.hp1 HG01346.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.-5-5980C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75102980 | ||||||
| chr7:75103011
|
C | T | 1 | a0001c0001t0001g0127 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.-5-5949C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75103011 | ||||||
| chr7:75103015
|
C | T | 1 | a0003c0011t0001g0037 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.-5-5945C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75103015 | ||||||
| chr7:75103024
|
T | A | 11 | a0001c0001t0001g0025a0001c0001t0001g0029a0001c0001t0001g0039others(8): Show | 11 | HG01070.hp1 HG01346.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.-5-5936T>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75103024 | ||||||
| chr7:75103082
|
G | A | 13 | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0038others(10): Show | 13 | HG01071.hp1 HG01123.hp2 HG01169.hp1 others(10): Show |
intron_variant | MODIFIER | c.-5-5878G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75103082 | ||||||
| chr7:75103116
|
A | G | 1 | a0001c0001t0001g0029 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.-5-5844A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75103116 | ||||||
| chr7:75103122
|
G | T | 156 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0012others(153): Show | 157 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(154): Show |
intron_variant | MODIFIER | c.-5-5838G>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75103122 | ||||||
| chr7:75103148
|
G | A | 3 | a0002c0002t0002g0152a0002c0002t0002g0154a0002c0002t0002g0169 | 3 | HG01109.hp1 HG02486.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.-5-5812G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75103148 | ||||||
| chr7:75103157
|
T | C | 3 | a0001c0001t0001g0029a0001c0001t0005g0017a0001c0001t0011g0002 | 3 | HG01934.hp1 HG02080.hp2 NA18612.hp2 |
intron_variant | MODIFIER | c.-5-5803T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75103157 | ||||||
| chr7:75103362
|
T | C | 11 | a0001c0001t0001g0025a0001c0001t0001g0029a0001c0001t0001g0039others(8): Show | 11 | HG01070.hp1 HG01346.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.-5-5598T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75103362 | ||||||
| chr7:75103559
|
C | T | 28 | a0001c0001t0001g0025a0001c0001t0001g0029a0001c0001t0001g0039others(25): Show | 28 | HG00642.hp2 HG00735.hp1 HG00735.hp2 others(25): Show |
intron_variant | MODIFIER | c.-5-5401C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75103559 | ||||||
| chr7:75103610
|
G | A | 3 | a0001c0001t0001g0029a0001c0001t0005g0017a0001c0001t0011g0002 | 3 | HG01934.hp1 HG02080.hp2 NA18612.hp2 |
intron_variant | MODIFIER | c.-5-5350G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75103610 | ||||||
| chr7:75103670
|
C | T | 13 | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0038others(10): Show | 13 | HG01071.hp1 HG01123.hp2 HG01169.hp1 others(10): Show |
intron_variant | MODIFIER | c.-5-5290C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75103670 | ||||||
| chr7:75103686
|
C | T | 1 | a0001c0001t0001g0036 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.-5-5274C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75103686 | ||||||
| chr7:75103883
|
T | G | 1 | a0001c0001t0001g0105 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.-5-5077T>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75103883 | ||||||
| chr7:75103948
|
C | T | 1 | a0007c0008t0001g0126 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.-5-5012C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75103948 | ||||||
| chr7:75104033
|
G | A | 2 | a0001c0005t0001g0142a0001c0005t0001g0143 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.-5-4927G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75104033 | ||||||
| chr7:75104040
|
C | T | 1 | a0001c0001t0001g0029 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.-5-4920C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75104040 | ||||||
| chr7:75104048
|
C | T | 31 | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0038others(28): Show | 31 | HG00642.hp2 HG00735.hp1 HG00735.hp2 others(28): Show |
intron_variant | MODIFIER | c.-5-4912C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75104048 | ||||||
| chr7:75104053
|
C | CA | 24 | a0001c0001t0001g0023a0001c0001t0001g0026a0001c0001t0001g0058others(21): Show | 24 | HG00423.hp2 HG01109.hp1 HG01123.hp1 others(21): Show |
intron_variant | MODIFIER | c.-5-4888dupA | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | 75104053 | |||||
| chr7:75104145
|
T | C | 147 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0012others(144): Show | 148 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(145): Show |
intron_variant | MODIFIER | c.-5-4815T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75104145 | ||||||
| chr7:75104151
|
C | T | 6 | a0001c0001t0001g0016a0001c0001t0001g0050a0001c0001t0001g0051others(3): Show | 6 | HG00738.hp2 HG01109.hp2 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.-5-4809C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75104151 | ||||||
| chr7:75104152
|
T | G | 78 | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0043others(75): Show | 79 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(76): Show |
intron_variant | MODIFIER | c.-5-4808T>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75104152 | ||||||
| chr7:75104213
|
C | T | 7 | a0001c0001t0001g0029a0001c0001t0001g0039a0001c0001t0001g0040others(4): Show | 7 | HG01070.hp1 HG01934.hp2 HG01975.hp2 others(4): Show |
intron_variant | MODIFIER | c.-5-4747C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75104213 | ||||||
| chr7:75104310
|
G | C | 78 | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0043others(75): Show | 79 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(76): Show |
intron_variant | MODIFIER | c.-5-4650G>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75104310 | ||||||
| chr7:75104338
|
C | T | 68 | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0043others(65): Show | 69 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(66): Show |
intron_variant | MODIFIER | c.-5-4622C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75104338 | ||||||
| chr7:75104441
|
G | T | 5 | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0001t0001g0049others(2): Show | 5 | HG01891.hp1 HG02647.hp1 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-5-4519G>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75104441 | ||||||
| chr7:75104470
|
G | C | 144 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0012others(141): Show | 145 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(142): Show |
intron_variant | MODIFIER | c.-5-4490G>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75104470 | ||||||
| chr7:75104505
|
A | G | 22 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0020others(19): Show | 22 | HG00099.hp1 HG00673.hp1 HG00673.hp2 others(19): Show |
intron_variant | MODIFIER | c.-5-4455A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75104505 | ||||||
| chr7:75104550
|
T | C | 2 | a0004c0006t0001g0067a0004c0006t0001g0068 | 2 | HG02622.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.-5-4410T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75104550 | ||||||
| chr7:75104572
|
C | T | 4 | a0001c0001t0001g0056a0001c0001t0001g0129a0001c0001t0004g0057others(1): Show | 4 | HG00733.hp1 HG04204.hp1 NA18950.hp2 others(1): Show |
intron_variant | MODIFIER | c.-5-4388C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75104572 | ||||||
| chr7:75104698
|
C | T | 2 | a0001c0001t0005g0014a0001c0001t0005g0015 | 2 | HG01169.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.-5-4262C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75104698 | ||||||
| chr7:75104783
|
C | T | 3 | a0001c0001t0001g0093a0001c0001t0001g0123a0001c0001t0010g0148 | 3 | HG03041.hp1 HG03209.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.-5-4177C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75104783 | ||||||
| chr7:75104785
|
C | T | 2 | a0001c0001t0001g0012a0001c0001t0009g0013 | 2 | HG01071.hp1 HG02698.hp1 |
intron_variant | MODIFIER | c.-5-4175C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75104785 | ||||||
| chr7:75104820
|
A | G | 2 | a0001c0001t0001g0065a0001c0001t0004g0064 | 2 | NA18955.hp2 NA19064.hp2 |
intron_variant | MODIFIER | c.-5-4140A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75104820 | ||||||
| chr7:75104836
|
G | A | 58 | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0018others(55): Show | 59 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(56): Show |
intron_variant | MODIFIER | c.-5-4124G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75104836 | ||||||
| chr7:75104956
|
G | A | 31 | a0001c0001t0001g0036a0001c0001t0001g0105a0001c0001t0001g0118others(28): Show | 31 | HG00423.hp2 HG00673.hp1 HG00673.hp2 others(28): Show |
intron_variant | MODIFIER | c.-5-4004G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75104956 | ||||||
| chr7:75104978
|
G | A | 8 | a0001c0001t0001g0010a0001c0001t0001g0038a0001c0001t0001g0150others(5): Show | 8 | HG01123.hp2 HG01975.hp1 HG01993.hp2 others(5): Show |
intron_variant | MODIFIER | c.-5-3982G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75104978 | ||||||
| chr7:75105021
|
A | G | 3 | a0001c0001t0003g0085a0001c0001t0004g0045a0001c0001t0006g0081 | 3 | HG00642.hp2 HG02698.hp2 NA20752.hp1 |
intron_variant | MODIFIER | c.-5-3939A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75105021 | ||||||
| chr7:75105027
|
G | A | 1 | a0001c0001t0003g0085 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.-5-3933G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75105027 | ||||||
| chr7:75105066
|
A | G | 1 | a0001c0001t0012g0003 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.-5-3894A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75105066 | ||||||
| chr7:75105089
|
C | T | 1 | a0001c0001t0009g0013 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.-5-3871C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75105089 | ||||||
| chr7:75105206
|
C | CA | 17 | a0001c0001t0001g0012a0001c0001t0001g0119a0001c0001t0003g0071others(14): Show | 17 | HG00642.hp2 HG00735.hp2 HG01071.hp1 others(14): Show |
intron_variant | MODIFIER | c.-5-3744dupA | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | 75105206 | |||||
| chr7:75105206
|
C | CAA | 10 | a0001c0001t0001g0010a0001c0001t0003g0070a0001c0001t0004g0004others(7): Show | 10 | HG00741.hp1 HG01071.hp2 HG01123.hp2 others(7): Show |
intron_variant | MODIFIER | c.-5-3745_-5-3744dup others(2): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | 75105206 | |||||
| chr7:75105257
|
A | C | 10 | a0001c0001t0001g0036a0001c0010t0001g0069a0003c0003t0001g0030others(7): Show | 10 | HG00673.hp1 HG00673.hp2 HG02165.hp1 others(7): Show |
intron_variant | MODIFIER | c.-5-3703A>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75105257 | ||||||
| chr7:75105423
|
G | A | 1 | a0001c0001t0008g0055 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.-5-3537G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75105423 | ||||||
| chr7:75105520
|
G | A | 55 | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0019others(52): Show | 55 | HG00642.hp2 HG00673.hp2 HG00735.hp2 others(52): Show |
intron_variant | MODIFIER | c.-5-3440G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75105520 | ||||||
| chr7:75105625
|
T | C | 2 | a0001c0001t0003g0082a0001c0001t0003g0083 | 2 | HG03516.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.-5-3335T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75105625 | ||||||
| chr7:75105706
|
T | C | 27 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(24): Show | 27 | HG01070.hp1 HG01109.hp1 HG01891.hp1 others(24): Show |
intron_variant | MODIFIER | c.-5-3254T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75105706 | ||||||
| chr7:75105848
|
G | A | 1 | a0001c0001t0010g0148 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.-5-3112G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75105848 | ||||||
| chr7:75105871
|
T | C | 16 | a0001c0001t0001g0039a0001c0001t0001g0049a0001c0001t0001g0146others(13): Show | 16 | HG00642.hp2 HG00735.hp2 HG00741.hp1 others(13): Show |
intron_variant | MODIFIER | c.-5-3089T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75105871 | ||||||
| chr7:75105928
|
G | A | 2 | a0002c0002t0002g0167a0009c0007t0002g0166 | 2 | HG02895.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.-5-3032G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75105928 | ||||||
| chr7:75105946
|
G | C | 1 | a0001c0001t0001g0029 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.-5-3014G>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75105946 | ||||||
| chr7:75105957
|
A | T | 75 | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0018others(72): Show | 76 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(73): Show |
intron_variant | MODIFIER | c.-5-3003A>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75105957 | ||||||
| chr7:75106071
|
A | G | 76 | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0018others(73): Show | 77 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(74): Show |
intron_variant | MODIFIER | c.-5-2889A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75106071 | ||||||
| chr7:75106081
|
A | G | 3 | a0001c0001t0001g0039a0001c0001t0012g0003a0001c0004t0001g0005 | 3 | HG01070.hp1 HG02145.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.-5-2879A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75106081 | ||||||
| chr7:75106109
|
A | C | 2 | a0001c0001t0001g0039a0001c0001t0012g0003 | 2 | HG01070.hp1 HG04184.hp1 |
intron_variant | MODIFIER | c.-5-2851A>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75106109 | ||||||
| chr7:75106328
|
G | A | 81 | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0018others(78): Show | 82 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(79): Show |
intron_variant | MODIFIER | c.-5-2632G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75106328 | ||||||
| chr7:75106394
|
A | G | 1 | a0001c0004t0001g0005 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.-5-2566A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75106394 | ||||||
| chr7:75106529
|
C | G | 1 | a0001c0004t0001g0005 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.-5-2431C>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75106529 | ||||||
| chr7:75106653
|
G | A | 29 | a0001c0001t0003g0070a0001c0001t0003g0071a0001c0001t0003g0073others(26): Show | 29 | HG00642.hp2 HG00673.hp2 HG00733.hp1 others(26): Show |
intron_variant | MODIFIER | c.-5-2307G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75106653 | ||||||
| chr7:75106818
|
G | A | 76 | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0018others(73): Show | 77 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(74): Show |
intron_variant | MODIFIER | c.-5-2142G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75106818 | ||||||
| chr7:75106948
|
T | TA | 6 | a0001c0001t0001g0089a0001c0001t0001g0093a0001c0001t0001g0123others(3): Show | 6 | HG02615.hp1 HG02818.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.-5-1997dupA | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | 75106948 | |||||
| chr7:75106963
|
A | T | 14 | a0001c0001t0003g0070a0001c0001t0003g0071a0001c0001t0003g0073others(11): Show | 14 | HG00642.hp2 HG00733.hp1 HG00735.hp2 others(11): Show |
intron_variant | MODIFIER | c.-5-1997A>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75106963 | ||||||
| chr7:75107066
|
T | C | 2 | a0001c0001t0001g0039a0001c0004t0001g0005 | 2 | HG01070.hp1 HG02145.hp2 |
intron_variant | MODIFIER | c.-5-1894T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75107066 | ||||||
| chr7:75107074
|
A | G | 6 | a0001c0004t0001g0054a0001c0004t0001g0096a0001c0004t0001g0098others(3): Show | 6 | HG02622.hp2 HG02723.hp1 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.-5-1886A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75107074 | ||||||
| chr7:75107328
|
C | A | 5 | a0001c0001t0005g0017a0001c0001t0011g0002a0001c0005t0001g0066others(2): Show | 5 | HG01934.hp1 HG02080.hp2 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.-5-1632C>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75107328 | ||||||
| chr7:75107359
|
A | C | 4 | a0001c0001t0001g0039a0001c0001t0005g0014a0001c0001t0005g0015others(1): Show | 4 | HG01070.hp1 HG01169.hp1 HG02145.hp2 others(1): Show |
intron_variant | MODIFIER | c.-5-1601A>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75107359 | ||||||
| chr7:75107447
|
C | T | 18 | a0001c0001t0002g0164a0002c0002t0002g0152a0002c0002t0002g0153others(15): Show | 18 | HG01109.hp1 HG01891.hp2 HG02055.hp2 others(15): Show |
intron_variant | MODIFIER | c.-5-1513C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75107447 | ||||||
| chr7:75107539
|
C | T | 1 | a0001c0001t0001g0145 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.-5-1421C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75107539 | ||||||
| chr7:75107554
|
G | A | 1 | a0001c0004t0001g0005 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.-5-1406G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75107554 | ||||||
| chr7:75107574
|
T | TA | 15 | a0001c0001t0001g0012a0001c0001t0001g0039a0001c0001t0001g0047others(12): Show | 15 | HG01070.hp1 HG01071.hp1 HG01071.hp2 others(12): Show |
intron_variant | MODIFIER | c.-5-1374dupA | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | 75107574 | |||||
| chr7:75107667
|
G | A | 2 | a0001c0001t0001g0094a0001c0001t0001g0124 | 2 | HG01109.hp2 HG02735.hp2 |
intron_variant | MODIFIER | c.-5-1293G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75107667 | ||||||
| chr7:75107743
|
G | A | 47 | a0001c0001t0002g0164a0001c0001t0003g0070a0001c0001t0003g0071others(44): Show | 47 | HG00642.hp2 HG00673.hp2 HG00733.hp1 others(44): Show |
intron_variant | MODIFIER | c.-5-1217G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75107743 | ||||||
| chr7:75107900
|
C | G | 4 | a0001c0001t0001g0026a0001c0001t0001g0108a0001c0001t0001g0109others(1): Show | 4 | HG02145.hp1 HG02922.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.-5-1060C>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75107900 | ||||||
| chr7:75107926
|
C | T | 2 | a0001c0001t0005g0017a0001c0001t0011g0002 | 2 | HG01934.hp1 HG02080.hp2 |
intron_variant | MODIFIER | c.-5-1034C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75107926 | ||||||
| chr7:75108575
|
C | T | 1 | a0001c0001t0001g0044 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.-5-385C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75108575 | ||||||
| chr7:75108576
|
G | A | 139 | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0018others(136): Show | 140 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(137): Show |
intron_variant | MODIFIER | c.-5-384G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75108576 | ||||||
| chr7:75108581
|
G | A | 8 | a0001c0001t0001g0039a0001c0001t0001g0042a0001c0001t0008g0052others(5): Show | 8 | HG01070.hp1 HG02647.hp2 HG02818.hp1 others(5): Show |
intron_variant | MODIFIER | c.-5-379G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75108581 | ||||||
| chr7:75108635
|
T | C | 156 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0016others(153): Show | 157 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(154): Show |
intron_variant | MODIFIER | c.-5-325T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75108635 | ||||||
| chr7:75108716
|
C | T | 1 | a0001c0001t0012g0003 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.-5-244C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | chr7 | 75108716 | ||||||
| chr7:75109075
|
G | T | 102 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0016others(99): Show | 103 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(100): Show |
intron_variant | MODIFIER | c.99+12G>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | chr7 | 75109075 | ||||||
| chr7:75109143
|
G | C | 80 | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0018others(77): Show | 81 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(78): Show |
intron_variant | MODIFIER | c.99+80G>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | chr7 | 75109143 | ||||||
| chr7:75109194
|
G | A | 2 | a0001c0001t0001g0039a0001c0001t0001g0150 | 2 | HG01070.hp1 HG02735.hp1 |
intron_variant | MODIFIER | c.99+131G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | chr7 | 75109194 | ||||||
| chr7:75109459
|
C | T | 1 | a0001c0010t0001g0069 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.99+396C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | chr7 | 75109459 | ||||||
| chr7:75109572
|
C | T | 3 | a0001c0001t0004g0107a0001c0001t0004g0133a0008c0013t0004g0141 | 3 | HG02809.hp1 HG03041.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.99+509C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | chr7 | 75109572 | ||||||
| chr7:75109592
|
C | G | 1 | a0001c0001t0001g0150 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.99+529C>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | chr7 | 75109592 | ||||||
| chr7:75109592
|
C | T | 3 | a0001c0001t0001g0104a0001c0001t0010g0148a0005c0014t0001g0011 | 3 | HG02155.hp1 HG03540.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.99+529C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | chr7 | 75109592 | ||||||
| chr7:75109604
|
G | T | 1 | a0001c0001t0001g0018 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.99+541G>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | chr7 | 75109604 | ||||||
| chr7:75109616
|
C | G | 3 | a0001c0005t0001g0066a0001c0005t0001g0142a0001c0005t0001g0143 | 3 | HG02818.hp1 HG02895.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.99+553C>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | chr7 | 75109616 | ||||||
| chr7:75109630
|
C | T | 149 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0016others(146): Show | 150 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(147): Show |
intron_variant | MODIFIER | c.99+567C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | chr7 | 75109630 | ||||||
| chr7:75109667
|
C | T | 151 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0016others(148): Show | 152 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(149): Show |
intron_variant | MODIFIER | c.99+604C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | chr7 | 75109667 | ||||||
| chr7:75109859
|
G | A | 1 | a0005c0014t0001g0011 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.99+796G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | chr7 | 75109859 | ||||||
| chr7:75110009
|
C | T | 149 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0016others(146): Show | 150 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(147): Show |
intron_variant | MODIFIER | c.99+946C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | chr7 | 75110009 | ||||||
| chr7:75110127
|
C | T | 1 | a0001c0001t0001g0041 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.99+1064C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | chr7 | 75110127 | ||||||
| chr7:75110193
|
G | A | 3 | a0001c0001t0001g0039a0001c0001t0001g0150a0001c0001t0010g0148 | 3 | HG01070.hp1 HG02735.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.99+1130G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | chr7 | 75110193 | ||||||
| chr7:75110500
|
AG | A | 2 | a0001c0001t0001g0094a0001c0001t0001g0124 | 2 | HG01109.hp2 HG02735.hp2 |
intron_variant | MODIFIER | c.99+1438delG | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | chr7 | 75110500 | ||||||
| chr7:75110559
|
A | G | 146 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0016others(143): Show | 147 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(144): Show |
intron_variant | MODIFIER | c.99+1496A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | chr7 | 75110559 | ||||||
| chr7:75110611
|
C | A | 1 | a0001c0001t0004g0046 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.99+1548C>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | chr7 | 75110611 | ||||||
| chr7:75110634
|
AAAT | A | 14 | a0001c0001t0003g0070a0001c0001t0003g0071a0001c0001t0003g0073others(11): Show | 14 | HG00642.hp2 HG00735.hp2 HG00741.hp1 others(11): Show |
intron_variant | MODIFIER | c.99+1574_99+1576del others(3): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr7 | 75110634 | |||||
| chr7:75110635
|
AAT | A | 130 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0016others(127): Show | 131 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(128): Show |
intron_variant | MODIFIER | c.99+1574_99+1575del others(2): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr7 | 75110635 | |||||
| chr7:75110809
|
G | A | 1 | a0001c0001t0001g0104 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.100-1588G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | chr7 | 75110809 | ||||||
| chr7:75110884
|
G | A | 1 | a0001c0001t0001g0146 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.100-1513G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | chr7 | 75110884 | ||||||
| chr7:75110921
|
C | T | 1 | a0001c0001t0001g0150 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.100-1476C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | chr7 | 75110921 | ||||||
| chr7:75110922
|
G | A | 67 | a0001c0001t0001g0012a0001c0001t0001g0047a0001c0001t0001g0048others(64): Show | 67 | HG00642.hp2 HG00673.hp2 HG00733.hp1 others(64): Show |
intron_variant | MODIFIER | c.100-1475G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | chr7 | 75110922 | ||||||
| chr7:75110927
|
T | C | 149 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0016others(146): Show | 150 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(147): Show |
intron_variant | MODIFIER | c.100-1470T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | chr7 | 75110927 | ||||||
| chr7:75110961
|
A | G | 147 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0016others(144): Show | 148 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(145): Show |
intron_variant | MODIFIER | c.100-1436A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | chr7 | 75110961 | ||||||
| chr7:75111084
|
G | A | 1 | a0001c0001t0001g0039 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.100-1313G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | chr7 | 75111084 | ||||||
| chr7:75111343
|
G | A | 147 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0016others(144): Show | 148 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(145): Show |
intron_variant | MODIFIER | c.100-1054G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | chr7 | 75111343 | ||||||
| chr7:75111518
|
G | A | 2 | a0001c0001t0001g0150a0001c0001t0010g0148 | 2 | HG02735.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.100-879G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | chr7 | 75111518 | ||||||
| chr7:75111538
|
C | T | 49 | a0001c0001t0001g0093a0001c0001t0002g0164a0001c0001t0003g0070others(46): Show | 49 | HG00642.hp2 HG00673.hp2 HG00733.hp1 others(46): Show |
intron_variant | MODIFIER | c.100-859C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | chr7 | 75111538 | ||||||
| chr7:75111673
|
C | T | 145 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0016others(142): Show | 146 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(143): Show |
intron_variant | MODIFIER | c.100-724C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | chr7 | 75111673 | ||||||
| chr7:75111713
|
C | T | 18 | a0001c0001t0002g0164a0002c0002t0002g0152a0002c0002t0002g0153others(15): Show | 18 | HG01109.hp1 HG01891.hp2 HG02055.hp2 others(15): Show |
intron_variant | MODIFIER | c.100-684C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | chr7 | 75111713 | ||||||
| chr7:75111777
|
A | G | 1 | a0001c0001t0001g0056 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.100-620A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | chr7 | 75111777 | ||||||
| chr7:75111884
|
A | G | 3 | a0001c0005t0001g0066a0001c0005t0001g0142a0001c0005t0001g0143 | 3 | HG02818.hp1 HG02895.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.100-513A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | chr7 | 75111884 | ||||||
| chr7:75111912
|
C | G | 64 | a0001c0001t0001g0012a0001c0001t0001g0047a0001c0001t0001g0048others(61): Show | 64 | HG00642.hp2 HG00673.hp2 HG00733.hp1 others(61): Show |
intron_variant | MODIFIER | c.100-485C>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | chr7 | 75111912 | ||||||
| chr7:75111923
|
C | T | 142 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0016others(139): Show | 143 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(140): Show |
intron_variant | MODIFIER | c.100-474C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | chr7 | 75111923 | ||||||
| chr7:75111972
|
A | G | 4 | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0001t0001g0104others(1): Show | 4 | HG02155.hp1 HG02735.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.100-425A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | chr7 | 75111972 | ||||||
| chr7:75111982
|
A | G | 1 | a0002c0002t0002g0153 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.100-415A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | chr7 | 75111982 | ||||||
| chr7:75112070
|
C | CT | 3 | a0001c0001t0001g0117a0001c0001t0001g0119a0001c0001t0001g0122 | 3 | NA18945.hp2 NA18955.hp1 NA19007.hp1 |
intron_variant | MODIFIER | c.100-327_100-326ins others(1): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | chr7 | 75112070 | ||||||
| chr7:75112085
|
T | TAC | 24 | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0042others(21): Show | 24 | HG00642.hp2 HG00733.hp1 HG00733.hp2 others(21): Show |
intron_variant | MODIFIER | c.100-280_100-279dup others(2): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr7 | 75112085 | |||||
| chr7:75112085
|
T | TACAC | 62 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0027others(59): Show | 63 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(60): Show |
intron_variant | MODIFIER | c.100-282_100-279dup others(4): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr7 | 75112085 | |||||
| chr7:75112085
|
T | TACACAC | 8 | a0001c0001t0001g0028a0001c0001t0001g0050a0001c0001t0001g0061others(5): Show | 8 | HG01109.hp2 HG02615.hp2 HG02698.hp2 others(5): Show |
intron_variant | MODIFIER | c.100-284_100-279dup others(6): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr7 | 75112085 | |||||
| chr7:75112085
|
T | TACACACA others(1): Show |
5 | a0001c0001t0001g0041a0001c0001t0001g0047a0001c0001t0001g0048others(2): Show | 5 | HG01433.hp2 HG01975.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.100-286_100-279dup others(8): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr7 | 75112085 | |||||
| chr7:75112085
|
T | TACACACA others(7): Show |
1 | a0001c0001t0003g0070 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.100-292_100-279dup others(14): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr7 | 75112085 | |||||
| chr7:75112085
|
TAC | T | 2 | a0001c0001t0005g0014a0001c0001t0005g0017 | 2 | HG01169.hp1 HG02080.hp2 |
intron_variant | MODIFIER | c.100-280_100-279del others(2): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr7 | 75112085 | |||||
| chr7:75112085
|
TACAC | T | 8 | a0001c0001t0001g0065a0001c0001t0001g0138a0001c0001t0004g0064others(5): Show | 8 | HG02818.hp1 HG02895.hp1 HG02896.hp2 others(5): Show |
intron_variant | MODIFIER | c.100-282_100-279del others(4): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr7 | 75112085 | |||||
| chr7:75112085
|
TACACAC | T | 31 | a0001c0001t0001g0025a0001c0001t0001g0036a0001c0001t0001g0058others(28): Show | 31 | HG00099.hp2 HG00423.hp2 HG00544.hp2 others(28): Show |
intron_variant | MODIFIER | c.100-284_100-279del others(6): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr7 | 75112085 | |||||
| chr7:75112085
|
TACACACA others(7): Show |
T | 1 | a0001c0001t0001g0111 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.100-292_100-279del others(14): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr7 | 75112085 | |||||
| chr7:75112118
|
A | ACACACAC others(4): Show |
1 | a0001c0001t0001g0144 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.100-279_100-278ins others(11): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | chr7 | 75112118 | ||||||
| chr7:75112142
|
C | T | 1 | a0005c0014t0001g0011 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.100-255C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | chr7 | 75112142 | ||||||
| chr7:75112176
|
C | A | 1 | a0001c0001t0001g0049 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.100-221C>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | chr7 | 75112176 | ||||||
| chr7:75112185
|
A | G | 1 | a0001c0001t0001g0049 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.100-212A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | chr7 | 75112185 | ||||||
| chr7:75112187
|
A | G | 1 | a0001c0001t0001g0049 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.100-210A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | chr7 | 75112187 | ||||||
| chr7:75112206
|
C | A | 1 | a0001c0001t0004g0046 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.100-191C>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | chr7 | 75112206 | ||||||
| chr7:75112257
|
G | C | 1 | a0001c0001t0001g0093 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.100-140G>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | chr7 | 75112257 | ||||||
| chr7:75112640
|
C | T | 1 | a0001c0001t0005g0009 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.238+105C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75112640 | ||||||
| chr7:75112681
|
T | C | 18 | a0001c0001t0001g0039a0001c0001t0001g0063a0001c0001t0001g0065others(15): Show | 18 | HG00597.hp1 HG00673.hp2 HG01070.hp1 others(15): Show |
intron_variant | MODIFIER | c.238+146T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75112681 | ||||||
| chr7:75112687
|
C | T | 21 | a0001c0001t0001g0039a0001c0001t0001g0063a0001c0001t0001g0065others(18): Show | 21 | HG00597.hp1 HG00673.hp2 HG01070.hp1 others(18): Show |
intron_variant | MODIFIER | c.238+152C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75112687 | ||||||
| chr7:75113196
|
A | ATTACAGG others(7): Show |
152 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0016others(149): Show | 153 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(150): Show |
intron_variant | MODIFIER | c.238+661_238+662ins others(14): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75113196 | ||||||
| chr7:75113197
|
A | C | 152 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0016others(149): Show | 153 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(150): Show |
intron_variant | MODIFIER | c.238+662A>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75113197 | ||||||
| chr7:75113458
|
T | C | 3 | a0001c0001t0004g0107a0001c0001t0004g0133a0008c0013t0004g0141 | 3 | HG02809.hp1 HG03041.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.238+923T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75113458 | ||||||
| chr7:75113486
|
A | G | 1 | a0001c0001t0004g0139 | 1 | NA19083.hp2 | intron_variant | MODIFIER | c.238+951A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75113486 | ||||||
| chr7:75113646
|
T | C | 5 | a0001c0001t0001g0039a0001c0001t0001g0056a0001c0001t0001g0093others(2): Show | 5 | HG01070.hp1 HG02735.hp1 HG03209.hp2 others(2): Show |
intron_variant | MODIFIER | c.238+1111T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75113646 | ||||||
| chr7:75113779
|
A | AGTGTGTG others(7): Show |
1 | a0001c0001t0002g0164 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.238+1245_238+1246i others(16): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75113779 | |||||
| chr7:75113781
|
G | GGT | 60 | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0018others(57): Show | 61 | HG00099.hp2 HG00408.hp2 HG00544.hp1 others(58): Show |
intron_variant | MODIFIER | c.238+1281_238+1282d others(4): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75113781 | |||||
| chr7:75113781
|
G | GGTGT | 20 | a0001c0001t0001g0012a0001c0001t0001g0025a0001c0001t0001g0027others(17): Show | 20 | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(17): Show |
intron_variant | MODIFIER | c.238+1279_238+1282d others(6): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75113781 | |||||
| chr7:75113781
|
G | GGTGTGT | 12 | a0001c0001t0003g0073a0001c0001t0005g0015a0001c0001t0005g0017others(9): Show | 12 | HG00673.hp2 HG01934.hp1 HG02074.hp1 others(9): Show |
intron_variant | MODIFIER | c.238+1277_238+1282d others(8): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75113781 | |||||
| chr7:75113781
|
G | GGTGTGTG others(1): Show |
16 | a0001c0001t0001g0039a0001c0001t0004g0004a0001c0001t0005g0006others(13): Show | 16 | HG01070.hp1 HG01123.hp2 HG01169.hp1 others(13): Show |
intron_variant | MODIFIER | c.238+1275_238+1282d others(10): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75113781 | |||||
| chr7:75113781
|
G | GGTGTGTG others(3): Show |
16 | a0001c0001t0003g0070a0001c0001t0003g0071a0001c0001t0003g0074others(13): Show | 16 | HG00733.hp1 HG00741.hp1 HG01109.hp1 others(13): Show |
intron_variant | MODIFIER | c.238+1273_238+1282d others(12): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75113781 | |||||
| chr7:75113781
|
G | GGTGTGTG others(5): Show |
6 | a0001c0001t0003g0078a0001c0001t0003g0082a0001c0001t0003g0083others(3): Show | 6 | HG00642.hp2 HG01496.hp1 HG02145.hp2 others(3): Show |
intron_variant | MODIFIER | c.238+1271_238+1282d others(14): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75113781 | |||||
| chr7:75113781
|
G | GGTGTGTG others(7): Show |
3 | a0001c0001t0001g0150a0002c0002t0002g0163a0009c0007t0002g0166 | 3 | HG02622.hp1 HG02735.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.238+1269_238+1282d others(16): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75113781 | |||||
| chr7:75113781
|
G | GGTGTGTG others(9): Show |
1 | a0002c0002t0002g0167 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.238+1267_238+1282d others(18): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75113781 | |||||
| chr7:75113781
|
G | GGTGTGTG others(11): Show |
1 | a0001c0001t0004g0046 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.238+1265_238+1282d others(20): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75113781 | |||||
| chr7:75113781
|
G | GTGTGTGT others(4): Show |
1 | a0001c0001t0001g0093 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.238+1246_238+1247i others(13): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75113781 | ||||||
| chr7:75113781
|
G | T | 1 | a0001c0001t0002g0164 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.238+1246G>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75113781 | ||||||
| chr7:75113781
|
GGT | G | 7 | a0001c0001t0001g0022a0001c0001t0001g0040a0001c0001t0001g0041others(4): Show | 7 | HG01934.hp2 HG01975.hp2 HG02155.hp2 others(4): Show |
intron_variant | MODIFIER | c.238+1281_238+1282d others(4): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75113781 | |||||
| chr7:75113781
|
GGTGT | G | 4 | a0001c0001t0004g0064a0001c0001t0007g0097a0001c0001t0007g0099others(1): Show | 4 | HG02258.hp2 HG02451.hp1 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.238+1279_238+1282d others(6): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75113781 | |||||
| chr7:75113814
|
G | GTGTGTGT others(7): Show |
1 | a0001c0001t0003g0077 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.238+1282_238+1283i others(16): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75113814 | |||||
| chr7:75113818
|
A | G | 1 | a0001c0001t0001g0044 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.238+1283A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75113818 | ||||||
| chr7:75113903
|
T | TTAGA | 4 | a0001c0001t0001g0039a0001c0001t0001g0093a0001c0001t0001g0150others(1): Show | 4 | HG01070.hp1 HG02735.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.238+1372_238+1375d others(6): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75113903 | |||||
| chr7:75113911
|
GTAGA | G | 3 | a0001c0005t0001g0066a0001c0005t0001g0142a0001c0005t0001g0143 | 3 | HG02818.hp1 HG02895.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.238+1383_238+1386d others(6): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75113911 | |||||
| chr7:75113918
|
G | GATAA | 4 | a0001c0001t0001g0039a0001c0001t0001g0093a0001c0001t0001g0150others(1): Show | 4 | HG01070.hp1 HG02735.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.238+1384_238+1387d others(6): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75113918 | |||||
| chr7:75113995
|
T | TTA | 7 | a0001c0004t0001g0005a0001c0004t0001g0054a0001c0004t0001g0096others(4): Show | 7 | HG02145.hp2 HG02622.hp2 HG02723.hp1 others(4): Show |
intron_variant | MODIFIER | c.238+1472_238+1473d others(4): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75113995 | |||||
| chr7:75114094
|
TAGAG | T | 4 | a0001c0001t0001g0039a0001c0001t0001g0093a0001c0001t0001g0150others(1): Show | 4 | HG01070.hp1 HG02735.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.238+1579_238+1582d others(6): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75114094 | |||||
| chr7:75114194
|
G | A | 4 | a0001c0001t0001g0039a0001c0001t0001g0093a0001c0001t0001g0150others(1): Show | 4 | HG01070.hp1 HG02735.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.238+1659G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75114194 | ||||||
| chr7:75114202
|
A | T | 7 | a0001c0001t0001g0063a0001c0001t0001g0065a0001c0001t0001g0119others(4): Show | 7 | HG00544.hp1 HG00597.hp1 HG02132.hp1 others(4): Show |
intron_variant | MODIFIER | c.238+1667A>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75114202 | ||||||
| chr7:75114242
|
C | T | 4 | a0001c0001t0001g0039a0001c0001t0001g0093a0001c0001t0001g0150others(1): Show | 4 | HG01070.hp1 HG02735.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.238+1707C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75114242 | ||||||
| chr7:75114307
|
G | A | 4 | a0001c0001t0001g0039a0001c0001t0001g0093a0001c0001t0001g0150others(1): Show | 4 | HG01070.hp1 HG02735.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.238+1772G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75114307 | ||||||
| chr7:75114330
|
A | T | 1 | a0001c0001t0001g0150 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.238+1795A>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75114330 | ||||||
| chr7:75114690
|
C | T | 4 | a0001c0001t0001g0039a0001c0001t0001g0093a0001c0001t0001g0150others(1): Show | 4 | HG01070.hp1 HG02735.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.238+2155C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75114690 | ||||||
| chr7:75114691
|
A | G | 5 | a0001c0001t0001g0039a0001c0001t0001g0093a0001c0001t0001g0150others(2): Show | 5 | HG01070.hp1 HG02145.hp2 HG02735.hp1 others(2): Show |
intron_variant | MODIFIER | c.238+2156A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75114691 | ||||||
| chr7:75114796
|
G | A | 10 | a0001c0001t0004g0004a0001c0001t0005g0006a0001c0001t0005g0007others(7): Show | 10 | HG01071.hp2 HG01123.hp2 HG01169.hp1 others(7): Show |
intron_variant | MODIFIER | c.238+2261G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75114796 | ||||||
| chr7:75114919
|
C | T | 4 | a0001c0001t0001g0039a0001c0001t0001g0093a0001c0001t0001g0150others(1): Show | 4 | HG01070.hp1 HG02735.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.238+2384C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75114919 | ||||||
| chr7:75114957
|
C | T | 1 | a0001c0001t0001g0105 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.238+2422C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75114957 | ||||||
| chr7:75115051
|
G | A | 1 | a0001c0001t0001g0093 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.238+2516G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75115051 | ||||||
| chr7:75115096
|
CT | C | 57 | a0001c0001t0001g0028a0001c0001t0001g0106a0001c0001t0001g0110others(54): Show | 57 | HG00408.hp2 HG00642.hp2 HG00673.hp2 others(54): Show |
intron_variant | MODIFIER | c.238+2585delT | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75115096 | |||||
| chr7:75115096
|
CTT | C | 78 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0016others(75): Show | 79 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(76): Show |
intron_variant | MODIFIER | c.238+2584_238+2585d others(4): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75115096 | |||||
| chr7:75115096
|
CTTT | C | 5 | a0001c0001t0001g0093a0001c0001t0001g0145a0001c0001t0004g0045others(2): Show | 5 | HG00733.hp1 HG02523.hp2 HG03209.hp2 others(2): Show |
intron_variant | MODIFIER | c.238+2583_238+2585d others(5): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75115096 | |||||
| chr7:75115134
|
A | G | 6 | a0001c0001t0001g0039a0001c0001t0001g0093a0001c0001t0001g0150others(3): Show | 6 | HG00733.hp1 HG01070.hp1 HG02735.hp1 others(3): Show |
intron_variant | MODIFIER | c.238+2599A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75115134 | ||||||
| chr7:75115245
|
T | G | 8 | a0001c0001t0001g0039a0001c0001t0001g0093a0001c0001t0001g0150others(5): Show | 8 | HG01070.hp1 HG02735.hp1 HG02818.hp1 others(5): Show |
intron_variant | MODIFIER | c.238+2710T>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75115245 | ||||||
| chr7:75115267
|
T | C | 4 | a0001c0001t0001g0039a0001c0001t0001g0093a0001c0001t0001g0150others(1): Show | 4 | HG01070.hp1 HG02735.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.238+2732T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75115267 | ||||||
| chr7:75115382
|
T | C | 4 | a0001c0001t0001g0039a0001c0001t0001g0093a0001c0001t0001g0150others(1): Show | 4 | HG01070.hp1 HG02735.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.238+2847T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75115382 | ||||||
| chr7:75115422
|
T | A | 1 | a0001c0004t0001g0005 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.238+2887T>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75115422 | ||||||
| chr7:75115428
|
A | T | 4 | a0001c0001t0001g0039a0001c0001t0001g0093a0001c0001t0001g0150others(1): Show | 4 | HG01070.hp1 HG02735.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.238+2893A>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75115428 | ||||||
| chr7:75115430
|
T | G | 2 | a0001c0001t0001g0039a0001c0001t0010g0148 | 2 | HG01070.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.238+2895T>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75115430 | ||||||
| chr7:75115434
|
T | A | 34 | a0001c0001t0001g0063a0001c0001t0001g0065a0001c0001t0001g0119others(31): Show | 34 | HG00544.hp1 HG00597.hp1 HG01109.hp1 others(31): Show |
intron_variant | MODIFIER | c.238+2899T>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75115434 | ||||||
| chr7:75115434
|
T | G | 2 | a0001c0001t0001g0039a0001c0001t0010g0148 | 2 | HG01070.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.238+2899T>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75115434 | ||||||
| chr7:75115492
|
T | C | 141 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0016others(138): Show | 142 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(139): Show |
intron_variant | MODIFIER | c.238+2957T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75115492 | ||||||
| chr7:75115550
|
A | G | 1 | a0001c0001t0008g0055 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.238+3015A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75115550 | ||||||
| chr7:75115590
|
AT | A | 16 | a0001c0001t0001g0010a0001c0001t0001g0019a0001c0001t0001g0020others(13): Show | 16 | HG01346.hp2 HG01433.hp2 HG02145.hp1 others(13): Show |
intron_variant | MODIFIER | c.238+3076delT | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75115590 | |||||
| chr7:75115590
|
ATT | A | 130 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0016others(127): Show | 131 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(128): Show |
intron_variant | MODIFIER | c.238+3075_238+3076d others(4): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75115590 | |||||
| chr7:75115590
|
ATTT | A | 19 | a0001c0001t0001g0039a0001c0001t0001g0090a0001c0001t0001g0093others(16): Show | 19 | HG00733.hp1 HG00733.hp2 HG00735.hp2 others(16): Show |
intron_variant | MODIFIER | c.238+3074_238+3076d others(5): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75115590 | |||||
| chr7:75115699
|
T | G | 5 | a0001c0001t0001g0039a0001c0001t0001g0093a0001c0001t0001g0150others(2): Show | 5 | HG01070.hp1 HG02145.hp2 HG02735.hp1 others(2): Show |
intron_variant | MODIFIER | c.238+3164T>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75115699 | ||||||
| chr7:75115774
|
A | G | 4 | a0001c0001t0001g0039a0001c0001t0001g0093a0001c0001t0001g0150others(1): Show | 4 | HG01070.hp1 HG02735.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.238+3239A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75115774 | ||||||
| chr7:75115797
|
A | T | 6 | a0001c0004t0001g0054a0001c0004t0001g0096a0001c0004t0001g0098others(3): Show | 6 | HG02622.hp2 HG02723.hp1 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.238+3262A>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75115797 | ||||||
| chr7:75115913
|
TCTTTC | T | 46 | a0001c0001t0002g0164a0001c0001t0003g0070a0001c0001t0003g0071others(43): Show | 46 | HG00642.hp2 HG00673.hp2 HG00733.hp1 others(43): Show |
intron_variant | MODIFIER | c.238+3379_238+3383d others(7): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75115913 | ||||||
| chr7:75115918
|
C | CT | 73 | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0027others(70): Show | 73 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(70): Show |
intron_variant | MODIFIER | c.238+3400dupT | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75115918 | |||||
| chr7:75115918
|
C | CTT | 11 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0088others(8): Show | 12 | HG00423.hp2 HG00733.hp2 HG00741.hp2 others(9): Show |
intron_variant | MODIFIER | c.238+3399_238+3400d others(4): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75115918 | |||||
| chr7:75115918
|
C | T | 1 | a0001c0001t0003g0082 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.238+3383C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75115918 | ||||||
| chr7:75115923
|
T | TA | 2 | a0001c0001t0001g0089a0001c0001t0001g0123 | 2 | HG02615.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.238+3388_238+3389i others(3): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75115923 | ||||||
| chr7:75115996
|
T | C | 1 | a0001c0001t0001g0105 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.238+3461T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75115996 | ||||||
| chr7:75116002
|
C | T | 1 | a0001c0001t0001g0051 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.238+3467C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75116002 | ||||||
| chr7:75116022
|
C | T | 2 | a0001c0001t0004g0107a0001c0001t0004g0133 | 2 | HG02809.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.238+3487C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75116022 | ||||||
| chr7:75116135
|
A | G | 1 | a0001c0001t0001g0125 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.238+3600A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75116135 | ||||||
| chr7:75116640
|
C | CT | 86 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0016others(83): Show | 87 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(84): Show |
intron_variant | MODIFIER | c.238+4121dupT | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75116640 | |||||
| chr7:75116640
|
CT | C | 8 | a0001c0001t0001g0093a0001c0001t0001g0150a0001c0001t0010g0148others(5): Show | 8 | HG02451.hp2 HG02723.hp1 HG02735.hp1 others(5): Show |
intron_variant | MODIFIER | c.238+4121delT | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75116640 | |||||
| chr7:75116859
|
A | G | 4 | a0001c0001t0001g0039a0001c0001t0001g0093a0001c0001t0001g0150others(1): Show | 4 | HG01070.hp1 HG02735.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.239-4032A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75116859 | ||||||
| chr7:75116934
|
T | C | 7 | a0001c0001t0001g0039a0001c0001t0001g0093a0001c0001t0001g0150others(4): Show | 7 | HG01070.hp1 HG02258.hp1 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.239-3957T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75116934 | ||||||
| chr7:75117242
|
G | A | 85 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0016others(82): Show | 86 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(83): Show |
intron_variant | MODIFIER | c.239-3649G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75117242 | ||||||
| chr7:75117315
|
C | CA | 2 | a0001c0001t0003g0082a0001c0001t0003g0083 | 2 | HG03516.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.239-3575dupA | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75117315 | |||||
| chr7:75117409
|
C | T | 15 | a0001c0001t0003g0070a0001c0001t0003g0071a0001c0001t0003g0073others(12): Show | 15 | HG00642.hp2 HG00733.hp1 HG00735.hp2 others(12): Show |
intron_variant | MODIFIER | c.239-3482C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75117409 | ||||||
| chr7:75117733
|
A | G | 4 | a0001c0001t0001g0039a0001c0001t0001g0093a0001c0001t0001g0150others(1): Show | 4 | HG01070.hp1 HG02735.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.239-3158A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75117733 | ||||||
| chr7:75117893
|
G | C | 1 | a0001c0001t0001g0018 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.239-2998G>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75117893 | ||||||
| chr7:75117903
|
C | T | 4 | a0001c0001t0001g0039a0001c0001t0001g0093a0001c0001t0001g0150others(1): Show | 4 | HG01070.hp1 HG02735.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.239-2988C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75117903 | ||||||
| chr7:75117943
|
T | C | 5 | a0001c0001t0001g0039a0001c0001t0001g0093a0001c0001t0001g0150others(2): Show | 5 | HG01070.hp1 HG02735.hp1 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.239-2948T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75117943 | ||||||
| chr7:75118074
|
C | CA | 13 | a0001c0001t0001g0018a0001c0001t0001g0106a0001c0001t0001g0118others(10): Show | 13 | HG00741.hp1 HG01109.hp1 HG01123.hp1 others(10): Show |
intron_variant | MODIFIER | c.239-2799dupA | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75118074 | |||||
| chr7:75118074
|
CA | C | 10 | a0001c0001t0001g0150a0001c0001t0004g0004a0001c0001t0005g0006others(7): Show | 10 | HG01071.hp2 HG01123.hp2 HG01169.hp1 others(7): Show |
intron_variant | MODIFIER | c.239-2799delA | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75118074 | |||||
| chr7:75118090
|
A | G | 1 | a0001c0001t0001g0150 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.239-2801A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75118090 | ||||||
| chr7:75118102
|
A | G | 1 | a0001c0001t0009g0013 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.239-2789A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75118102 | ||||||
| chr7:75118372
|
G | T | 10 | a0001c0001t0004g0004a0001c0001t0005g0006a0001c0001t0005g0007others(7): Show | 10 | HG01071.hp2 HG01123.hp2 HG01169.hp1 others(7): Show |
intron_variant | MODIFIER | c.239-2519G>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75118372 | ||||||
| chr7:75118391
|
A | C | 6 | a0001c0001t0001g0039a0001c0001t0001g0093a0001c0001t0001g0150others(3): Show | 6 | HG01070.hp1 HG02723.hp1 HG02735.hp1 others(3): Show |
intron_variant | MODIFIER | c.239-2500A>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75118391 | ||||||
| chr7:75118454
|
C | T | 1 | a0001c0001t0001g0056 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.239-2437C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75118454 | ||||||
| chr7:75118523
|
T | C | 5 | a0001c0001t0001g0039a0001c0001t0001g0093a0001c0001t0001g0150others(2): Show | 5 | HG01070.hp1 HG02735.hp1 HG03209.hp2 others(2): Show |
intron_variant | MODIFIER | c.239-2368T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75118523 | ||||||
| chr7:75118577
|
C | T | 1 | a0001c0010t0001g0069 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.239-2314C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75118577 | ||||||
| chr7:75118835
|
C | A | 15 | a0001c0001t0003g0070a0001c0001t0003g0071a0001c0001t0003g0073others(12): Show | 15 | HG00642.hp2 HG00733.hp1 HG00735.hp2 others(12): Show |
intron_variant | MODIFIER | c.239-2056C>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75118835 | ||||||
| chr7:75118849
|
T | C | 7 | a0001c0001t0001g0039a0001c0001t0001g0093a0001c0001t0001g0150others(4): Show | 7 | HG01070.hp1 HG02735.hp1 HG02922.hp2 others(4): Show |
intron_variant | MODIFIER | c.239-2042T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75118849 | ||||||
| chr7:75118960
|
T | C | 152 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0016others(149): Show | 153 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(150): Show |
intron_variant | MODIFIER | c.239-1931T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75118960 | ||||||
| chr7:75118965
|
C | T | 1 | a0001c0001t0001g0056 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.239-1926C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75118965 | ||||||
| chr7:75119013
|
A | G | 4 | a0001c0001t0001g0039a0001c0001t0001g0093a0001c0001t0001g0150others(1): Show | 4 | HG01070.hp1 HG02735.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.239-1878A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75119013 | ||||||
| chr7:75119173
|
G | A | 4 | a0001c0001t0001g0039a0001c0001t0001g0093a0001c0001t0001g0150others(1): Show | 4 | HG01070.hp1 HG02735.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.239-1718G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75119173 | ||||||
| chr7:75119191
|
C | CA | 13 | a0001c0001t0001g0022a0001c0001t0001g0026a0001c0001t0001g0108others(10): Show | 13 | HG01891.hp2 HG02145.hp1 HG02155.hp2 others(10): Show |
intron_variant | MODIFIER | c.239-1660dupA | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75119191 | |||||
| chr7:75119191
|
C | CAA | 14 | a0001c0001t0001g0029a0001c0001t0001g0047a0001c0001t0004g0133others(11): Show | 14 | HG01123.hp2 HG02055.hp2 HG02258.hp2 others(11): Show |
intron_variant | MODIFIER | c.239-1661_239-1660d others(4): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75119191 | |||||
| chr7:75119191
|
C | CAAA | 12 | a0001c0001t0001g0012a0001c0001t0001g0027a0001c0001t0001g0048others(9): Show | 12 | HG00099.hp1 HG01070.hp2 HG01071.hp1 others(9): Show |
intron_variant | MODIFIER | c.239-1662_239-1660d others(5): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75119191 | |||||
| chr7:75119191
|
C | CAAAAAAA | 11 | a0001c0001t0001g0038a0001c0001t0001g0059a0001c0001t0001g0061others(8): Show | 11 | HG00099.hp2 HG00408.hp2 HG01433.hp1 others(8): Show |
intron_variant | MODIFIER | c.239-1666_239-1660d others(9): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75119191 | |||||
| chr7:75119191
|
C | CAAAAAAA others(1): Show |
14 | a0001c0001t0001g0058a0001c0001t0001g0060a0001c0001t0001g0062others(11): Show | 14 | HG00408.hp1 HG00544.hp2 HG00738.hp1 others(11): Show |
intron_variant | MODIFIER | c.239-1667_239-1660d others(10): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75119191 | |||||
| chr7:75119191
|
C | CAAAAAAA others(2): Show |
5 | a0001c0001t0001g0063a0001c0001t0001g0105a0001c0001t0001g0122others(2): Show | 5 | HG00423.hp1 HG00423.hp2 HG00597.hp1 others(2): Show |
intron_variant | MODIFIER | c.239-1668_239-1660d others(11): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75119191 | |||||
| chr7:75119191
|
C | CAAAAAAA others(3): Show |
8 | a0001c0001t0001g0036a0001c0001t0001g0040a0001c0001t0001g0043others(5): Show | 8 | HG00544.hp1 HG00597.hp2 HG00673.hp1 others(5): Show |
intron_variant | MODIFIER | c.239-1669_239-1660d others(12): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75119191 | |||||
| chr7:75119191
|
C | CAAAAAAA others(5): Show |
1 | a0001c0001t0001g0087 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.239-1671_239-1660d others(14): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75119191 | |||||
| chr7:75119191
|
CA | C | 11 | a0001c0001t0001g0042a0001c0001t0001g0093a0001c0001t0005g0007others(8): Show | 11 | HG01934.hp1 HG01975.hp1 HG01993.hp2 others(8): Show |
intron_variant | MODIFIER | c.239-1660delA | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75119191 | |||||
| chr7:75119191
|
CAAAAA | C | 5 | a0001c0001t0001g0150a0001c0001t0003g0070a0001c0001t0003g0078others(2): Show | 5 | HG00741.hp1 HG01496.hp1 HG02698.hp1 others(2): Show |
intron_variant | MODIFIER | c.239-1664_239-1660d others(7): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75119191 | |||||
| chr7:75119191
|
CAAAAAA | C | 18 | a0001c0001t0001g0018a0001c0001t0001g0041a0001c0001t0001g0050others(15): Show | 18 | HG00642.hp2 HG00735.hp1 HG00735.hp2 others(15): Show |
intron_variant | MODIFIER | c.239-1665_239-1660d others(8): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75119191 | |||||
| chr7:75119191
|
CAAAAAAA | C | 11 | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0088others(8): Show | 12 | HG00733.hp2 HG00741.hp2 HG01123.hp1 others(9): Show |
intron_variant | MODIFIER | c.239-1666_239-1660d others(9): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75119191 | |||||
| chr7:75119191
|
CAAAAAAA others(4): Show |
C | 1 | a0001c0001t0001g0118 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.239-1670_239-1660d others(13): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75119191 | |||||
| chr7:75119191
|
CAAAAAAA others(5): Show |
C | 3 | a0001c0001t0001g0102a0001c0001t0001g0103a0004c0006t0001g0068 | 3 | HG00642.hp1 HG02922.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.239-1671_239-1660d others(14): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75119191 | |||||
| chr7:75119191
|
CAAAAAAA others(7): Show |
C | 1 | a0001c0001t0001g0019 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.239-1673_239-1660d others(16): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75119191 | |||||
| chr7:75119191
|
CAAAAAAA others(8): Show |
C | 2 | a0001c0001t0001g0020a0001c0001t0001g0021 | 2 | NA18945.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.239-1674_239-1660d others(17): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75119191 | |||||
| chr7:75119191
|
CAAAAAAA others(12): Show |
C | 2 | a0001c0001t0004g0046a0001c0004t0001g0096 | 2 | HG01433.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.239-1678_239-1660d others(21): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75119191 | |||||
| chr7:75119191
|
CAAAAAAA others(14): Show |
C | 1 | a0001c0001t0001g0028 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.239-1680_239-1660d others(23): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75119191 | |||||
| chr7:75119611
|
G | A | 4 | a0001c0001t0001g0039a0001c0001t0001g0093a0001c0001t0001g0150others(1): Show | 4 | HG01070.hp1 HG02735.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.239-1280G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75119611 | ||||||
| chr7:75119632
|
T | C | 4 | a0001c0001t0001g0039a0001c0001t0001g0093a0001c0001t0001g0150others(1): Show | 4 | HG01070.hp1 HG02735.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.239-1259T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75119632 | ||||||
| chr7:75119850
|
G | A | 8 | a0001c0001t0001g0101a0001c0001t0001g0104a0001c0001t0001g0113others(5): Show | 8 | HG00408.hp1 HG00733.hp1 HG02074.hp2 others(5): Show |
intron_variant | MODIFIER | c.239-1041G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75119850 | ||||||
| chr7:75119866
|
G | C | 142 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0016others(139): Show | 143 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(140): Show |
intron_variant | MODIFIER | c.239-1025G>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75119866 | ||||||
| chr7:75119866
|
G | T | 1 | a0001c0015t0001g0151 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.239-1025G>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75119866 | ||||||
| chr7:75119899
|
C | T | 1 | a0002c0002t0002g0159 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.239-992C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75119899 | ||||||
| chr7:75119900
|
A | G | 158 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0016others(155): Show | 159 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(156): Show |
intron_variant | MODIFIER | c.239-991A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75119900 | ||||||
| chr7:75119937
|
GCTAACGT others(9): Show |
G | 51 | a0001c0001t0001g0039a0001c0001t0001g0150a0001c0001t0002g0164others(48): Show | 51 | HG00642.hp2 HG00673.hp2 HG00733.hp1 others(48): Show |
intron_variant | MODIFIER | c.239-952_239-937del others(16): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75119937 | |||||
| chr7:75119979
|
C | A | 51 | a0001c0001t0001g0039a0001c0001t0001g0150a0001c0001t0002g0164others(48): Show | 51 | HG00642.hp2 HG00673.hp2 HG00733.hp1 others(48): Show |
intron_variant | MODIFIER | c.239-912C>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75119979 | ||||||
| chr7:75120003
|
C | G | 56 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(53): Show | 56 | HG00642.hp2 HG00673.hp2 HG00733.hp1 others(53): Show |
intron_variant | MODIFIER | c.239-888C>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75120003 | ||||||
| chr7:75120109
|
T | A | 51 | a0001c0001t0001g0039a0001c0001t0001g0150a0001c0001t0002g0164others(48): Show | 51 | HG00642.hp2 HG00673.hp2 HG00733.hp1 others(48): Show |
intron_variant | MODIFIER | c.239-782T>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75120109 | ||||||
| chr7:75120115
|
C | T | 3 | a0002c0002t0002g0152a0002c0002t0002g0154a0002c0002t0002g0169 | 3 | HG01109.hp1 HG02486.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.239-776C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | chr7 | 75120115 | ||||||
| chr7:75120128
|
C | CAAA | 53 | a0001c0001t0001g0039a0001c0001t0001g0108a0001c0001t0001g0109others(50): Show | 53 | HG00642.hp2 HG00673.hp2 HG00735.hp2 others(50): Show |
intron_variant | MODIFIER | c.239-753_239-751dup others(3): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75120128 | |||||
| chr7:75120183
|
CA | C | 150 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0016others(147): Show | 151 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(148): Show |
intron_variant | MODIFIER | c.239-696delA | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75120183 | |||||
| chr7:75120800
|
T | TC | 7 | a0001c0001t0001g0039a0001c0001t0001g0088a0001c0001t0001g0150others(4): Show | 7 | HG01070.hp1 HG01346.hp1 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.239-88dupC | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | 75120800 | |||||
| chr7:75121037
|
T | A | 1 | a0001c0001t0008g0053 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.358+27T>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 4/15 | chr7 | 75121037 | ||||||
| chr7:75121085
|
A | G | 152 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0016others(149): Show | 153 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(150): Show |
intron_variant | MODIFIER | c.358+75A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 4/15 | chr7 | 75121085 | ||||||
| chr7:75121181
|
C | T | 10 | a0001c0001t0004g0004a0001c0001t0005g0006a0001c0001t0005g0007others(7): Show | 10 | HG01071.hp2 HG01123.hp2 HG01169.hp1 others(7): Show |
intron_variant | MODIFIER | c.358+171C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 4/15 | chr7 | 75121181 | ||||||
| chr7:75121460
|
C | CT | 7 | a0001c0001t0001g0026a0001c0001t0001g0108a0001c0001t0001g0109others(4): Show | 7 | HG02145.hp1 HG02723.hp1 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.358+465dupT | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr7 | 75121460 | |||||
| chr7:75121561
|
C | T | 1 | a0001c0010t0001g0069 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.358+551C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 4/15 | chr7 | 75121561 | ||||||
| chr7:75121710
|
T | C | 5 | a0001c0001t0001g0039a0001c0001t0001g0088a0001c0001t0001g0129others(2): Show | 5 | HG01070.hp1 HG01346.hp1 HG02735.hp1 others(2): Show |
intron_variant | MODIFIER | c.358+700T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 4/15 | chr7 | 75121710 | ||||||
| chr7:75121746
|
G | A | 155 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0016others(152): Show | 156 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(153): Show |
intron_variant | MODIFIER | c.358+736G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 4/15 | chr7 | 75121746 | ||||||
| chr7:75121749
|
G | A | 3 | a0001c0001t0001g0049a0001c0001t0001g0127a0001c0001t0010g0148 | 3 | HG00544.hp2 HG01891.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.358+739G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 4/15 | chr7 | 75121749 | ||||||
| chr7:75121766
|
C | CT | 8 | a0001c0001t0001g0039a0001c0001t0001g0088a0001c0001t0001g0150others(5): Show | 8 | HG01070.hp1 HG01346.hp1 HG01934.hp1 others(5): Show |
intron_variant | MODIFIER | c.358+768dupT | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr7 | 75121766 | |||||
| chr7:75121766
|
CT | C | 5 | a0001c0001t0001g0058a0001c0001t0001g0059a0001c0001t0001g0060others(2): Show | 5 | HG00738.hp1 HG01433.hp1 HG01496.hp2 others(2): Show |
intron_variant | MODIFIER | c.358+768delT | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr7 | 75121766 | |||||
| chr7:75121900
|
A | G | 1 | a0001c0001t0010g0148 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.358+890A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 4/15 | chr7 | 75121900 | ||||||
| chr7:75121910
|
G | A | 2 | a0001c0001t0001g0001a0001c0001t0010g0148 | 3 | HG01516.hp1 HG01517.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.358+900G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 4/15 | chr7 | 75121910 | ||||||
| chr7:75121917
|
T | C | 26 | a0001c0001t0001g0039a0001c0001t0001g0088a0001c0001t0001g0127others(23): Show | 26 | HG00544.hp2 HG01070.hp1 HG01109.hp1 others(23): Show |
intron_variant | MODIFIER | c.358+907T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 4/15 | chr7 | 75121917 | ||||||
| chr7:75121918
|
G | A | 5 | a0001c0001t0001g0039a0001c0001t0001g0088a0001c0001t0001g0146others(2): Show | 5 | HG01070.hp1 HG01346.hp1 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.358+908G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 4/15 | chr7 | 75121918 | ||||||
| chr7:75121925
|
T | G | 1 | a0001c0004t0001g0005 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.358+915T>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 4/15 | chr7 | 75121925 | ||||||
| chr7:75121963
|
T | C | 10 | a0001c0001t0001g0039a0001c0001t0001g0058a0001c0001t0001g0059others(7): Show | 10 | HG00733.hp1 HG00738.hp1 HG01070.hp1 others(7): Show |
intron_variant | MODIFIER | c.358+953T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 4/15 | chr7 | 75121963 | ||||||
| chr7:75121964
|
T | C | 3 | a0001c0001t0001g0029a0001c0001t0005g0017a0001c0001t0011g0002 | 3 | HG01934.hp1 HG02080.hp2 NA18612.hp2 |
intron_variant | MODIFIER | c.358+954T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 4/15 | chr7 | 75121964 | ||||||
| chr7:75122006
|
G | A | 2 | a0001c0001t0001g0102a0001c0001t0001g0103 | 2 | HG00642.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.358+996G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 4/15 | chr7 | 75122006 | ||||||
| chr7:75122186
|
C | T | 30 | a0001c0001t0001g0039a0001c0001t0001g0088a0001c0001t0002g0164others(27): Show | 30 | HG00673.hp2 HG01070.hp1 HG01109.hp1 others(27): Show |
intron_variant | MODIFIER | c.359-950C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 4/15 | chr7 | 75122186 | ||||||
| chr7:75122298
|
AT | A | 5 | a0001c0001t0001g0039a0001c0001t0001g0088a0001c0001t0001g0150others(2): Show | 5 | HG01070.hp1 HG01346.hp1 HG02735.hp1 others(2): Show |
intron_variant | MODIFIER | c.359-835delT | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr7 | 75122298 | |||||
| chr7:75122300
|
T | TAA | 26 | a0001c0001t0002g0164a0002c0002t0002g0152a0002c0002t0002g0153others(23): Show | 26 | HG00673.hp2 HG01109.hp1 HG01891.hp2 others(23): Show |
intron_variant | MODIFIER | c.359-836_359-835ins others(2): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 4/15 | chr7 | 75122300 | ||||||
| chr7:75122301
|
T | A | 26 | a0001c0001t0002g0164a0002c0002t0002g0152a0002c0002t0002g0153others(23): Show | 26 | HG00673.hp2 HG01109.hp1 HG01891.hp2 others(23): Show |
intron_variant | MODIFIER | c.359-835T>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 4/15 | chr7 | 75122301 | ||||||
| chr7:75122311
|
A | G | 1 | a0001c0001t0001g0039 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.359-825A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 4/15 | chr7 | 75122311 | ||||||
| chr7:75122534
|
G | C | 1 | a0001c0001t0001g0108 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.359-602G>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 4/15 | chr7 | 75122534 | ||||||
| chr7:75122623
|
G | A | 2 | a0001c0001t0001g0111a0001c0001t0010g0148 | 2 | HG03453.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.359-513G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 4/15 | chr7 | 75122623 | ||||||
| chr7:75122842
|
G | A | 69 | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0018others(66): Show | 70 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(67): Show |
intron_variant | MODIFIER | c.359-294G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 4/15 | chr7 | 75122842 | ||||||
| chr7:75122859
|
A | G | 3 | a0001c0001t0001g0039a0001c0001t0001g0088a0001c0001t0010g0148 | 3 | HG01070.hp1 HG01346.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.359-277A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 4/15 | chr7 | 75122859 | ||||||
| chr7:75122865
|
T | C | 3 | a0001c0001t0001g0039a0001c0001t0001g0088a0001c0001t0010g0148 | 3 | HG01070.hp1 HG01346.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.359-271T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 4/15 | chr7 | 75122865 | ||||||
| chr7:75123021
|
G | T | 1 | a0001c0001t0001g0135 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.359-115G>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 4/15 | chr7 | 75123021 | ||||||
| chr7:75123022
|
C | T | 1 | a0001c0001t0001g0135 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.359-114C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 4/15 | chr7 | 75123022 | ||||||
| chr7:75123024
|
G | T | 3 | a0001c0001t0001g0039a0001c0001t0001g0088a0001c0001t0010g0148 | 3 | HG01070.hp1 HG01346.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.359-112G>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 4/15 | chr7 | 75123024 | ||||||
| chr7:75123041
|
C | G | 1 | a0001c0001t0001g0103 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.359-95C>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 4/15 | chr7 | 75123041 | ||||||
| chr7:75123071
|
C | CA | 19 | a0001c0001t0001g0120a0001c0001t0002g0164a0002c0002t0002g0152others(16): Show | 19 | HG01109.hp1 HG01891.hp2 HG02055.hp2 others(16): Show |
intron_variant | MODIFIER | c.359-53dupA | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr7 | 75123071 | |||||
| chr7:75123074
|
A | AC | 3 | a0001c0001t0001g0039a0001c0001t0001g0088a0001c0001t0010g0148 | 3 | HG01070.hp1 HG01346.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.359-62_359-61insC | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 4/15 | chr7 | 75123074 | ||||||
| chr7:75123075
|
A | C | 1 | a0001c0001t0001g0136 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.359-61A>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 4/15 | chr7 | 75123075 | ||||||
| chr7:75123575
|
C | A | 1 | a0001c0001t0005g0014 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.571+59C>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 6/15 | chr7 | 75123575 | ||||||
| chr7:75123657
|
C | CA | 5 | a0001c0001t0001g0039a0001c0001t0001g0088a0001c0001t0001g0150others(2): Show | 5 | HG01070.hp1 HG01346.hp1 HG02735.hp1 others(2): Show |
intron_variant | MODIFIER | c.571+143dupA | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr7 | 75123657 | |||||
| chr7:75123720
|
G | A | 152 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0016others(149): Show | 153 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(150): Show |
intron_variant | MODIFIER | c.571+204G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 6/15 | chr7 | 75123720 | ||||||
| chr7:75123747
|
G | A | 2 | a0001c0001t0001g0039a0001c0001t0001g0088 | 2 | HG01070.hp1 HG01346.hp1 |
intron_variant | MODIFIER | c.571+231G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 6/15 | chr7 | 75123747 | ||||||
| chr7:75123774
|
A | T | 4 | a0001c0001t0001g0039a0001c0001t0001g0088a0001c0001t0001g0150others(1): Show | 4 | HG01070.hp1 HG01346.hp1 HG02735.hp1 others(1): Show |
intron_variant | MODIFIER | c.571+258A>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 6/15 | chr7 | 75123774 | ||||||
| chr7:75123850
|
C | A | 1 | a0001c0001t0001g0150 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.571+334C>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 6/15 | chr7 | 75123850 | ||||||
| chr7:75123877
|
C | CA | 5 | a0001c0001t0001g0094a0001c0001t0001g0095a0001c0005t0001g0066others(2): Show | 5 | HG01109.hp2 HG02818.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.571+372dupA | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr7 | 75123877 | |||||
| chr7:75123894
|
C | G | 1 | a0001c0001t0001g0019 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.571+378C>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 6/15 | chr7 | 75123894 | ||||||
| chr7:75123915
|
G | C | 1 | a0001c0001t0001g0062 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.571+399G>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 6/15 | chr7 | 75123915 | ||||||
| chr7:75123928
|
C | T | 8 | a0001c0001t0001g0012a0001c0001t0001g0039a0001c0001t0001g0056others(5): Show | 8 | HG01070.hp1 HG01070.hp2 HG01071.hp1 others(5): Show |
intron_variant | MODIFIER | c.571+412C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 6/15 | chr7 | 75123928 | ||||||
| chr7:75123933
|
C | T | 9 | a0001c0001t0004g0004a0001c0001t0005g0006a0001c0001t0005g0007others(6): Show | 9 | HG01123.hp2 HG01169.hp1 HG01169.hp2 others(6): Show |
intron_variant | MODIFIER | c.571+417C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 6/15 | chr7 | 75123933 | ||||||
| chr7:75123953
|
C | G | 6 | a0001c0004t0001g0054a0001c0004t0001g0096a0001c0004t0001g0098others(3): Show | 6 | HG02622.hp2 HG02723.hp1 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.571+437C>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 6/15 | chr7 | 75123953 | ||||||
| chr7:75123953
|
C | T | 4 | a0001c0001t0001g0039a0001c0001t0001g0088a0001c0001t0001g0150others(1): Show | 4 | HG01070.hp1 HG01346.hp1 HG02735.hp1 others(1): Show |
intron_variant | MODIFIER | c.571+437C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 6/15 | chr7 | 75123953 | ||||||
| chr7:75124005
|
C | G | 48 | a0001c0001t0002g0164a0001c0001t0003g0070a0001c0001t0003g0071others(45): Show | 48 | HG00642.hp2 HG00673.hp2 HG00733.hp1 others(45): Show |
intron_variant | MODIFIER | c.571+489C>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 6/15 | chr7 | 75124005 | ||||||
| chr7:75124012
|
T | C | 1 | a0001c0001t0001g0095 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.571+496T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 6/15 | chr7 | 75124012 | ||||||
| chr7:75124089
|
C | A | 1 | a0001c0001t0001g0125 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.571+573C>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 6/15 | chr7 | 75124089 | ||||||
| chr7:75124137
|
G | A | 3 | a0001c0005t0001g0066a0001c0005t0001g0142a0001c0005t0001g0143 | 3 | HG02818.hp1 HG02895.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.571+621G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 6/15 | chr7 | 75124137 | ||||||
| chr7:75124239
|
G | A | 86 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0016others(83): Show | 87 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(84): Show |
intron_variant | MODIFIER | c.571+723G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 6/15 | chr7 | 75124239 | ||||||
| chr7:75124320
|
A | T | 2 | a0002c0002t0002g0159a0002c0002t0002g0168 | 2 | HG01891.hp2 HG02055.hp2 |
intron_variant | MODIFIER | c.571+804A>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 6/15 | chr7 | 75124320 | ||||||
| chr7:75124488
|
A | G | 1 | a0001c0010t0001g0069 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.571+972A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 6/15 | chr7 | 75124488 | ||||||
| chr7:75124538
|
C | T | 9 | a0001c0001t0001g0150a0003c0003t0001g0030a0003c0003t0001g0031others(6): Show | 9 | HG00673.hp2 HG02165.hp1 HG02165.hp2 others(6): Show |
intron_variant | MODIFIER | c.571+1022C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 6/15 | chr7 | 75124538 | ||||||
| chr7:75124776
|
C | A | 7 | a0001c0001t0001g0039a0001c0001t0001g0088a0001c0001t0001g0150others(4): Show | 7 | HG01070.hp1 HG01346.hp1 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.572-1140C>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 6/15 | chr7 | 75124776 | ||||||
| chr7:75124847
|
C | A | 2 | a0001c0001t0001g0150a0001c0004t0001g0005 | 2 | HG02145.hp2 HG02735.hp1 |
intron_variant | MODIFIER | c.572-1069C>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 6/15 | chr7 | 75124847 | ||||||
| chr7:75124910
|
C | T | 1 | a0001c0004t0001g0005 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.572-1006C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 6/15 | chr7 | 75124910 | ||||||
| chr7:75124975
|
G | C | 3 | a0001c0001t0001g0027a0001c0001t0001g0125a0001c0001t0006g0081 | 3 | HG00099.hp1 HG02698.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.572-941G>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 6/15 | chr7 | 75124975 | ||||||
| chr7:75125049
|
C | G | 3 | a0001c0001t0001g0012a0001c0001t0001g0115a0001c0001t0001g0150 | 3 | HG01070.hp2 HG01071.hp1 HG02735.hp1 |
intron_variant | MODIFIER | c.572-867C>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 6/15 | chr7 | 75125049 | ||||||
| chr7:75125049
|
C | T | 1 | a0001c0004t0001g0005 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.572-867C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 6/15 | chr7 | 75125049 | ||||||
| chr7:75125053
|
C | G | 4 | a0001c0001t0001g0026a0001c0001t0001g0108a0001c0001t0001g0109others(1): Show | 4 | HG02145.hp1 HG02922.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.572-863C>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 6/15 | chr7 | 75125053 | ||||||
| chr7:75125347
|
C | T | 5 | a0001c0001t0001g0038a0001c0001t0001g0039a0001c0001t0001g0088others(2): Show | 5 | HG01070.hp1 HG01346.hp1 HG02735.hp1 others(2): Show |
intron_variant | MODIFIER | c.572-569C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 6/15 | chr7 | 75125347 | ||||||
| chr7:75125359
|
G | C | 1 | a0001c0001t0001g0039 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.572-557G>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 6/15 | chr7 | 75125359 | ||||||
| chr7:75125482
|
C | G | 1 | a0007c0008t0001g0126 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.572-434C>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 6/15 | chr7 | 75125482 | ||||||
| chr7:75125510
|
G | A | 3 | a0001c0001t0001g0039a0001c0001t0001g0063a0001c0001t0001g0088 | 3 | HG00597.hp1 HG01070.hp1 HG01346.hp1 |
intron_variant | MODIFIER | c.572-406G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 6/15 | chr7 | 75125510 | ||||||
| chr7:75125572
|
A | G | 1 | a0001c0010t0001g0069 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.572-344A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 6/15 | chr7 | 75125572 | ||||||
| chr7:75125678
|
G | A | 3 | a0001c0005t0001g0066a0001c0005t0001g0142a0001c0005t0001g0143 | 3 | HG02818.hp1 HG02895.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.572-238G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 6/15 | chr7 | 75125678 | ||||||
| chr7:75125871
|
G | A | 1 | a0001c0010t0001g0069 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.572-45G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 6/15 | chr7 | 75125871 | ||||||
| chr7:75126015
|
T | C | 13 | a0001c0001t0001g0026a0001c0001t0001g0039a0001c0001t0001g0088others(10): Show | 13 | HG01070.hp1 HG01346.hp1 HG01433.hp2 others(10): Show |
intron_variant | MODIFIER | c.626+45T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 7/15 | chr7 | 75126015 | ||||||
| chr7:75126019
|
C | T | 1 | a0001c0001t0001g0043 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.626+49C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 7/15 | chr7 | 75126019 | ||||||
| chr7:75126026
|
G | C | 1 | a0001c0001t0010g0148 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.626+56G>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 7/15 | chr7 | 75126026 | ||||||
| chr7:75126108
|
A | G | 1 | a0001c0004t0001g0005 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.626+138A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 7/15 | chr7 | 75126108 | ||||||
| chr7:75126146
|
T | C | 7 | a0001c0001t0001g0039a0001c0001t0001g0088a0001c0001t0001g0150others(4): Show | 7 | HG01070.hp1 HG01346.hp1 HG01433.hp2 others(4): Show |
intron_variant | MODIFIER | c.626+176T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 7/15 | chr7 | 75126146 | ||||||
| chr7:75126453
|
C | A | 1 | a0001c0004t0001g0005 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.670+68C>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75126453 | ||||||
| chr7:75126529
|
T | C | 6 | a0001c0001t0001g0039a0001c0001t0001g0088a0001c0001t0001g0150others(3): Show | 6 | HG01070.hp1 HG01346.hp1 HG02698.hp2 others(3): Show |
intron_variant | MODIFIER | c.670+144T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75126529 | ||||||
| chr7:75126737
|
C | T | 5 | a0001c0001t0001g0039a0001c0001t0001g0088a0001c0001t0001g0150others(2): Show | 5 | HG01070.hp1 HG01346.hp1 HG02698.hp2 others(2): Show |
intron_variant | MODIFIER | c.670+352C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75126737 | ||||||
| chr7:75126813
|
G | A | 6 | a0001c0001t0001g0020a0001c0001t0001g0039a0001c0001t0001g0088others(3): Show | 6 | HG01070.hp1 HG01346.hp1 HG02698.hp2 others(3): Show |
intron_variant | MODIFIER | c.670+428G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75126813 | ||||||
| chr7:75126861
|
G | T | 5 | a0001c0001t0001g0039a0001c0001t0001g0088a0001c0001t0001g0150others(2): Show | 5 | HG01070.hp1 HG01346.hp1 HG02698.hp2 others(2): Show |
intron_variant | MODIFIER | c.670+476G>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75126861 | ||||||
| chr7:75126870
|
G | A | 3 | a0001c0005t0001g0066a0001c0005t0001g0142a0001c0005t0001g0143 | 3 | HG02818.hp1 HG02895.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.670+485G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75126870 | ||||||
| chr7:75126905
|
A | G | 5 | a0001c0001t0001g0039a0001c0001t0001g0088a0001c0001t0001g0150others(2): Show | 5 | HG01070.hp1 HG01346.hp1 HG02698.hp2 others(2): Show |
intron_variant | MODIFIER | c.670+520A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75126905 | ||||||
| chr7:75126952
|
A | G | 6 | a0001c0001t0001g0039a0001c0001t0001g0088a0001c0001t0001g0150others(3): Show | 6 | HG01070.hp1 HG01346.hp1 HG01433.hp2 others(3): Show |
intron_variant | MODIFIER | c.670+567A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75126952 | ||||||
| chr7:75127021
|
A | C | 3 | a0001c0001t0001g0089a0001c0001t0001g0093a0001c0001t0001g0123 | 3 | HG02615.hp1 HG03041.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.670+636A>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75127021 | ||||||
| chr7:75127023
|
AC | A | 90 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0016others(87): Show | 91 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(88): Show |
intron_variant | MODIFIER | c.670+639delC | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75127023 | ||||||
| chr7:75127024
|
C | A | 45 | a0001c0001t0002g0164a0001c0001t0003g0070a0001c0001t0003g0071others(42): Show | 45 | HG00642.hp2 HG00733.hp1 HG00735.hp2 others(42): Show |
intron_variant | MODIFIER | c.670+639C>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75127024 | ||||||
| chr7:75127024
|
CA | C | 6 | a0001c0001t0001g0087a0001c0001t0006g0072a0001c0005t0001g0066others(3): Show | 6 | HG01071.hp2 HG02683.hp2 HG02818.hp1 others(3): Show |
intron_variant | MODIFIER | c.670+647delA | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr7 | 75127024 | |||||
| chr7:75127027
|
A | C | 1 | a0001c0001t0004g0045 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.670+642A>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75127027 | ||||||
| chr7:75127032
|
A | C | 5 | a0001c0001t0001g0039a0001c0001t0001g0088a0001c0001t0001g0150others(2): Show | 5 | HG01070.hp1 HG01346.hp1 HG02698.hp2 others(2): Show |
intron_variant | MODIFIER | c.670+647A>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75127032 | ||||||
| chr7:75127033
|
C | A | 6 | a0001c0001t0001g0039a0001c0001t0001g0088a0001c0001t0001g0150others(3): Show | 6 | HG01070.hp1 HG01346.hp1 HG02698.hp2 others(3): Show |
intron_variant | MODIFIER | c.670+648C>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75127033 | ||||||
| chr7:75127045
|
C | A | 2 | a0001c0001t0001g0012a0001c0001t0001g0115 | 2 | HG01070.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.670+660C>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75127045 | ||||||
| chr7:75127071
|
A | T | 1 | a0001c0004t0001g0054 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.670+686A>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75127071 | ||||||
| chr7:75127091
|
CAAAT | C | 5 | a0001c0001t0001g0039a0001c0001t0001g0088a0001c0001t0001g0150others(2): Show | 5 | HG01070.hp1 HG01346.hp1 HG02698.hp2 others(2): Show |
intron_variant | MODIFIER | c.670+726_670+729del others(4): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr7 | 75127091 | |||||
| chr7:75127138
|
G | C | 1 | a0001c0001t0001g0039 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.670+753G>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75127138 | ||||||
| chr7:75127152
|
G | C | 1 | a0002c0002t0002g0161 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.670+767G>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75127152 | ||||||
| chr7:75127153
|
CAGA | C | 5 | a0001c0001t0001g0039a0001c0001t0001g0088a0001c0001t0001g0150others(2): Show | 5 | HG01070.hp1 HG01346.hp1 HG02698.hp2 others(2): Show |
intron_variant | MODIFIER | c.670+773_670+775del others(3): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr7 | 75127153 | |||||
| chr7:75127208
|
G | C | 5 | a0001c0001t0001g0039a0001c0001t0001g0088a0001c0001t0001g0150others(2): Show | 5 | HG01070.hp1 HG01346.hp1 HG02698.hp2 others(2): Show |
intron_variant | MODIFIER | c.670+823G>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75127208 | ||||||
| chr7:75127269
|
C | T | 2 | a0001c0001t0001g0117a0001c0001t0004g0046 | 2 | HG01433.hp2 NA19007.hp1 |
intron_variant | MODIFIER | c.670+884C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75127269 | ||||||
| chr7:75127435
|
C | T | 3 | a0001c0005t0001g0066a0001c0005t0001g0142a0001c0005t0001g0143 | 3 | HG02818.hp1 HG02895.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.670+1050C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75127435 | ||||||
| chr7:75127461
|
G | A | 1 | a0001c0001t0001g0056 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.670+1076G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75127461 | ||||||
| chr7:75127468
|
C | CA | 19 | a0001c0001t0001g0112a0001c0001t0001g0113a0001c0001t0002g0164others(16): Show | 19 | HG00408.hp1 HG00642.hp2 HG00673.hp2 others(16): Show |
intron_variant | MODIFIER | c.670+1107dupA | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr7 | 75127468 | |||||
| chr7:75127468
|
CA | C | 12 | a0001c0001t0001g0041a0001c0001t0001g0108a0001c0001t0001g0123others(9): Show | 12 | HG01515.hp1 HG01516.hp2 HG01975.hp2 others(9): Show |
intron_variant | MODIFIER | c.670+1107delA | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr7 | 75127468 | |||||
| chr7:75127485
|
AAAAAAAA others(3): Show |
A | 4 | a0001c0001t0001g0039a0001c0001t0001g0088a0001c0001t0001g0150others(1): Show | 4 | HG01070.hp1 HG01346.hp1 HG02735.hp1 others(1): Show |
intron_variant | MODIFIER | c.670+1102_670+1111d others(12): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr7 | 75127485 | |||||
| chr7:75127537
|
G | A | 4 | a0001c0001t0001g0039a0001c0001t0001g0088a0001c0001t0001g0150others(1): Show | 4 | HG01070.hp1 HG01346.hp1 HG02735.hp1 others(1): Show |
intron_variant | MODIFIER | c.670+1152G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75127537 | ||||||
| chr7:75127823
|
T | C | 1 | a0001c0001t0004g0046 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.670+1438T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75127823 | ||||||
| chr7:75127880
|
G | T | 1 | a0001c0001t0001g0127 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.670+1495G>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75127880 | ||||||
| chr7:75127955
|
G | C | 20 | a0001c0001t0001g0039a0001c0001t0001g0088a0001c0001t0001g0108others(17): Show | 20 | HG01070.hp1 HG01346.hp1 HG01891.hp2 others(17): Show |
intron_variant | MODIFIER | c.670+1570G>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75127955 | ||||||
| chr7:75128132
|
C | T | 1 | a0001c0001t0001g0146 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.670+1747C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75128132 | ||||||
| chr7:75128423
|
C | T | 3 | a0001c0001t0001g0101a0001c0001t0001g0113a0001c0001t0001g0118 | 3 | HG00408.hp1 HG02074.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.670+2038C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75128423 | ||||||
| chr7:75128630
|
G | A | 2 | a0001c0004t0001g0054a0001c0004t0001g0147 | 2 | HG02976.hp2 NA19056.hp2 |
intron_variant | MODIFIER | c.670+2245G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75128630 | ||||||
| chr7:75128656
|
C | T | 1 | a0001c0001t0007g0099 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.670+2271C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75128656 | ||||||
| chr7:75128774
|
G | A | 1 | a0004c0006t0001g0068 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.670+2389G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75128774 | ||||||
| chr7:75128813
|
A | T | 1 | a0001c0001t0002g0164 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.670+2428A>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75128813 | ||||||
| chr7:75129037
|
C | T | 1 | a0001c0001t0001g0018 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.670+2652C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75129037 | ||||||
| chr7:75129078
|
C | T | 6 | a0001c0001t0001g0026a0001c0001t0001g0108a0001c0001t0001g0109others(3): Show | 6 | HG02145.hp1 HG02723.hp1 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.670+2693C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75129078 | ||||||
| chr7:75129112
|
A | G | 3 | a0001c0005t0001g0066a0001c0005t0001g0142a0001c0005t0001g0143 | 3 | HG02818.hp1 HG02895.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.670+2727A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75129112 | ||||||
| chr7:75129133
|
T | C | 3 | a0001c0001t0001g0039a0001c0001t0001g0088a0003c0009t0001g0032 | 3 | HG01070.hp1 HG01346.hp1 HG02165.hp2 |
intron_variant | MODIFIER | c.670+2748T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75129133 | ||||||
| chr7:75129158
|
T | C | 8 | a0001c0001t0001g0039a0001c0001t0001g0088a0001c0001t0001g0150others(5): Show | 8 | HG01070.hp1 HG01346.hp1 HG02165.hp2 others(5): Show |
intron_variant | MODIFIER | c.670+2773T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75129158 | ||||||
| chr7:75129229
|
A | G | 1 | a0001c0001t0001g0049 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.670+2844A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75129229 | ||||||
| chr7:75129316
|
G | A | 3 | a0001c0004t0001g0147a0004c0006t0001g0067a0004c0006t0001g0068 | 3 | HG02622.hp2 HG02922.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.670+2931G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75129316 | ||||||
| chr7:75129390
|
T | C | 4 | a0001c0005t0001g0066a0001c0005t0001g0142a0001c0005t0001g0143others(1): Show | 4 | HG02818.hp1 HG02895.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.670+3005T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75129390 | ||||||
| chr7:75129500
|
C | G | 2 | a0001c0001t0008g0052a0001c0001t0008g0055 | 2 | HG03139.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.670+3115C>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75129500 | ||||||
| chr7:75129579
|
C | G | 1 | a0001c0001t0001g0132 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.670+3194C>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75129579 | ||||||
| chr7:75129993
|
G | T | 2 | a0001c0004t0001g0096a0001c0004t0001g0098 | 2 | HG02723.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.671-3142G>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75129993 | ||||||
| chr7:75130091
|
C | CTCTT | 44 | a0001c0001t0001g0012a0001c0001t0001g0020a0001c0001t0001g0022others(41): Show | 44 | HG00408.hp2 HG00423.hp1 HG00597.hp2 others(41): Show |
intron_variant | MODIFIER | c.671-2989_671-2986d others(6): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr7 | 75130091 | |||||
| chr7:75130091
|
C | CTCTTTCT others(1): Show |
43 | a0001c0001t0001g0001a0001c0001t0001g0025a0001c0001t0001g0036others(40): Show | 44 | HG00544.hp2 HG00597.hp1 HG00673.hp1 others(41): Show |
intron_variant | MODIFIER | c.671-2993_671-2986d others(10): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr7 | 75130091 | |||||
| chr7:75130091
|
C | CTCTTTCT others(5): Show |
20 | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0023others(17): Show | 20 | HG00099.hp2 HG00544.hp1 HG00733.hp2 others(17): Show |
intron_variant | MODIFIER | c.671-2997_671-2986d others(14): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr7 | 75130091 | |||||
| chr7:75130091
|
C | CTCTTTCT others(9): Show |
4 | a0001c0001t0001g0145a0001c0001t0001g0150a0001c0001t0003g0073others(1): Show | 4 | HG01169.hp1 HG02074.hp1 HG02523.hp2 others(1): Show |
intron_variant | MODIFIER | c.671-3001_671-2986d others(18): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr7 | 75130091 | |||||
| chr7:75130091
|
C | CTTTCTTT others(3): Show |
1 | a0004c0006t0001g0068 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.671-3043_671-3042i others(12): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr7 | 75130091 | |||||
| chr7:75130091
|
C | T | 1 | a0002c0002t0002g0156 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.671-3044C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75130091 | ||||||
| chr7:75130091
|
CTCTT | C | 7 | a0001c0001t0001g0010a0001c0001t0001g0044a0001c0001t0001g0106others(4): Show | 7 | HG00741.hp1 HG01109.hp1 HG01123.hp1 others(4): Show |
intron_variant | MODIFIER | c.671-2989_671-2986d others(6): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr7 | 75130091 | |||||
| chr7:75130091
|
CTCTTTCT others(1): Show |
C | 8 | a0001c0001t0001g0019a0001c0001t0001g0027a0001c0001t0001g0144others(5): Show | 8 | HG00099.hp1 HG01891.hp2 HG02055.hp2 others(5): Show |
intron_variant | MODIFIER | c.671-2993_671-2986d others(10): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr7 | 75130091 | |||||
| chr7:75130091
|
CTCTTTCT others(5): Show |
C | 1 | a0001c0001t0004g0046 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.671-2997_671-2986d others(14): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr7 | 75130091 | |||||
| chr7:75130098
|
T | TTTCTTTC others(9): Show |
1 | a0001c0001t0001g0114 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.671-3022_671-3021i others(18): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr7 | 75130098 | |||||
| chr7:75130106
|
T | TTTCTTTC others(1): Show |
2 | a0001c0001t0006g0084a0001c0001t0012g0003 | 2 | HG02683.hp1 HG04184.hp1 |
intron_variant | MODIFIER | c.671-3022_671-3021i others(10): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr7 | 75130106 | |||||
| chr7:75130110
|
T | TTTCTTTC others(5): Show |
1 | a0006c0012t0001g0134 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.671-3014_671-3013i others(14): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr7 | 75130110 | |||||
| chr7:75130146
|
T | TTTCTTTC others(9): Show |
1 | a0001c0001t0001g0094 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.671-2986_671-2985i others(18): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr7 | 75130146 | |||||
| chr7:75130154
|
T | C | 3 | a0001c0005t0001g0066a0001c0005t0001g0142a0001c0005t0001g0143 | 3 | HG02818.hp1 HG02895.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.671-2981T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75130154 | ||||||
| chr7:75130242
|
A | C | 1 | a0001c0001t0001g0040 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.671-2893A>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75130242 | ||||||
| chr7:75130366
|
G | A | 150 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0016others(147): Show | 151 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(148): Show |
intron_variant | MODIFIER | c.671-2769G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75130366 | ||||||
| chr7:75130405
|
C | A | 1 | a0001c0001t0010g0148 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.671-2730C>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75130405 | ||||||
| chr7:75130430
|
C | T | 2 | a0001c0001t0001g0088a0003c0009t0001g0032 | 2 | HG01346.hp1 HG02165.hp2 |
intron_variant | MODIFIER | c.671-2705C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75130430 | ||||||
| chr7:75130431
|
G | A | 2 | a0001c0001t0005g0007a0001c0001t0005g0008 | 2 | HG01975.hp1 HG01993.hp2 |
intron_variant | MODIFIER | c.671-2704G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75130431 | ||||||
| chr7:75130580
|
T | C | 2 | a0001c0001t0001g0150a0001c0001t0010g0148 | 2 | HG02735.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.671-2555T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75130580 | ||||||
| chr7:75130602
|
T | C | 5 | a0001c0001t0001g0088a0001c0001t0001g0150a0001c0001t0010g0148others(2): Show | 5 | HG01346.hp1 HG02165.hp2 HG02735.hp1 others(2): Show |
intron_variant | MODIFIER | c.671-2533T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75130602 | ||||||
| chr7:75130670
|
G | T | 44 | a0001c0001t0001g0150a0001c0001t0002g0164a0001c0001t0003g0070others(41): Show | 44 | HG00642.hp2 HG00673.hp2 HG00733.hp1 others(41): Show |
intron_variant | MODIFIER | c.671-2465G>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75130670 | ||||||
| chr7:75131100
|
G | C | 8 | a0001c0001t0001g0088a0001c0001t0001g0095a0001c0001t0001g0116others(5): Show | 8 | HG01346.hp1 HG02165.hp2 HG02818.hp1 others(5): Show |
intron_variant | MODIFIER | c.671-2035G>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75131100 | ||||||
| chr7:75131122
|
C | T | 2 | a0001c0001t0001g0150a0001c0001t0010g0148 | 2 | HG02735.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.671-2013C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75131122 | ||||||
| chr7:75131478
|
G | T | 1 | a0002c0002t0002g0167 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.671-1657G>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75131478 | ||||||
| chr7:75131591
|
C | T | 1 | a0001c0001t0003g0079 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.671-1544C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75131591 | ||||||
| chr7:75131592
|
G | A | 16 | a0001c0001t0001g0150a0001c0001t0002g0164a0001c0001t0010g0148others(13): Show | 16 | HG01891.hp2 HG02055.hp2 HG02258.hp1 others(13): Show |
intron_variant | MODIFIER | c.671-1543G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75131592 | ||||||
| chr7:75131794
|
G | A | 2 | a0001c0001t0005g0014a0001c0001t0005g0015 | 2 | HG01169.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.671-1341G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75131794 | ||||||
| chr7:75131827
|
C | T | 1 | a0001c0001t0001g0150 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.671-1308C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75131827 | ||||||
| chr7:75131906
|
A | G | 84 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0016others(81): Show | 85 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(82): Show |
intron_variant | MODIFIER | c.671-1229A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75131906 | ||||||
| chr7:75131962
|
T | C | 1 | a0001c0001t0001g0150 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.671-1173T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75131962 | ||||||
| chr7:75132007
|
G | A | 17 | a0001c0001t0002g0164a0001c0001t0005g0017a0001c0001t0010g0148others(14): Show | 17 | HG01891.hp2 HG01934.hp1 HG02055.hp2 others(14): Show |
intron_variant | MODIFIER | c.671-1128G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75132007 | ||||||
| chr7:75132176
|
A | G | 27 | a0001c0001t0001g0088a0001c0001t0001g0109a0001c0001t0001g0150others(24): Show | 27 | HG01346.hp1 HG01891.hp2 HG01934.hp1 others(24): Show |
intron_variant | MODIFIER | c.671-959A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75132176 | ||||||
| chr7:75132200
|
C | A | 2 | a0001c0001t0005g0014a0001c0001t0005g0015 | 2 | HG01169.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.671-935C>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75132200 | ||||||
| chr7:75132307
|
C | T | 1 | a0001c0001t0001g0103 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.671-828C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75132307 | ||||||
| chr7:75132341
|
A | G | 1 | a0001c0001t0004g0057 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.671-794A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75132341 | ||||||
| chr7:75132358
|
CA | C | 121 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0016others(118): Show | 122 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(119): Show |
intron_variant | MODIFIER | c.671-762delA | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr7 | 75132358 | |||||
| chr7:75132358
|
CAA | C | 24 | a0001c0001t0001g0050a0001c0001t0001g0150a0001c0001t0002g0164others(21): Show | 24 | HG00673.hp2 HG01891.hp2 HG02055.hp2 others(21): Show |
intron_variant | MODIFIER | c.671-763_671-762del others(2): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr7 | 75132358 | |||||
| chr7:75132507
|
C | G | 18 | a0001c0001t0001g0150a0001c0001t0002g0164a0001c0001t0005g0017others(15): Show | 18 | HG01891.hp2 HG01934.hp1 HG02055.hp2 others(15): Show |
intron_variant | MODIFIER | c.671-628C>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75132507 | ||||||
| chr7:75132522
|
C | T | 4 | a0002c0002t0002g0152a0002c0002t0002g0153a0002c0002t0002g0154others(1): Show | 4 | HG01109.hp1 HG02486.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.671-613C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75132522 | ||||||
| chr7:75132544
|
CCTT | C | 2 | a0001c0001t0005g0017a0001c0001t0011g0002 | 2 | HG01934.hp1 HG02080.hp2 |
intron_variant | MODIFIER | c.671-587_671-585del others(3): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr7 | 75132544 | |||||
| chr7:75132548
|
C | CT | 13 | a0001c0001t0001g0010a0001c0001t0001g0019a0001c0001t0001g0025others(10): Show | 13 | HG00642.hp2 HG00741.hp1 HG01258.hp2 others(10): Show |
intron_variant | MODIFIER | c.671-562dupT | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr7 | 75132548 | |||||
| chr7:75132548
|
C | CTT | 5 | a0001c0001t0003g0073a0001c0001t0003g0077a0001c0001t0005g0006others(2): Show | 5 | HG00735.hp2 HG01123.hp2 HG01975.hp1 others(2): Show |
intron_variant | MODIFIER | c.671-563_671-562dup others(2): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr7 | 75132548 | |||||
| chr7:75132548
|
CT | C | 16 | a0001c0001t0001g0022a0001c0001t0002g0164a0001c0005t0001g0066others(13): Show | 16 | HG01891.hp2 HG02055.hp2 HG02155.hp2 others(13): Show |
intron_variant | MODIFIER | c.671-562delT | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr7 | 75132548 | |||||
| chr7:75132548
|
CTTT | C | 6 | a0001c0001t0001g0056a0001c0001t0001g0095a0001c0001t0001g0105others(3): Show | 6 | HG00423.hp2 HG04204.hp1 NA18747.hp1 others(3): Show |
intron_variant | MODIFIER | c.671-564_671-562del others(3): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr7 | 75132548 | |||||
| chr7:75132548
|
CTTTT | C | 79 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0016others(76): Show | 80 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(77): Show |
intron_variant | MODIFIER | c.671-565_671-562del others(4): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr7 | 75132548 | |||||
| chr7:75132549
|
T | C | 2 | a0001c0001t0001g0150a0001c0001t0010g0148 | 2 | HG02735.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.671-586T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75132549 | ||||||
| chr7:75132550
|
T | C | 14 | a0001c0001t0002g0164a0002c0002t0002g0155a0002c0002t0002g0156others(11): Show | 14 | HG01891.hp2 HG02055.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.671-585T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75132550 | ||||||
| chr7:75132550
|
T | TC | 3 | a0001c0001t0001g0088a0001c0010t0001g0069a0003c0009t0001g0032 | 3 | HG01346.hp1 HG02165.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.671-585_671-584ins others(1): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75132550 | ||||||
| chr7:75132552
|
T | C | 2 | a0001c0001t0005g0017a0001c0001t0011g0002 | 2 | HG01934.hp1 HG02080.hp2 |
intron_variant | MODIFIER | c.671-583T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75132552 | ||||||
| chr7:75132553
|
T | C | 1 | a0001c0001t0004g0139 | 1 | NA19083.hp2 | intron_variant | MODIFIER | c.671-582T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75132553 | ||||||
| chr7:75132592
|
G | A | 18 | a0001c0001t0001g0150a0001c0001t0002g0164a0001c0001t0005g0017others(15): Show | 18 | HG01891.hp2 HG01934.hp1 HG02055.hp2 others(15): Show |
intron_variant | MODIFIER | c.671-543G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75132592 | ||||||
| chr7:75132618
|
G | A | 1 | a0002c0002t0002g0153 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.671-517G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75132618 | ||||||
| chr7:75132810
|
T | C | 18 | a0001c0001t0001g0150a0001c0001t0002g0164a0001c0001t0005g0017others(15): Show | 18 | HG01891.hp2 HG01934.hp1 HG02055.hp2 others(15): Show |
intron_variant | MODIFIER | c.671-325T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75132810 | ||||||
| chr7:75132833
|
A | G | 16 | a0001c0001t0001g0150a0001c0001t0002g0164a0001c0001t0010g0148others(13): Show | 16 | HG01891.hp2 HG02055.hp2 HG02258.hp1 others(13): Show |
intron_variant | MODIFIER | c.671-302A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75132833 | ||||||
| chr7:75132839
|
C | G | 3 | a0001c0001t0001g0012a0001c0001t0001g0110a0001c0001t0001g0115 | 3 | HG01070.hp2 HG01071.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.671-296C>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75132839 | ||||||
| chr7:75132930
|
G | A | 1 | a0001c0001t0003g0078 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.671-205G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75132930 | ||||||
| chr7:75132937
|
T | A | 1 | a0001c0001t0001g0123 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.671-198T>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75132937 | ||||||
| chr7:75132943
|
A | G | 1 | a0004c0006t0001g0068 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.671-192A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | chr7 | 75132943 | ||||||
| chr7:75133218
|
A | G | 1 | a0001c0001t0005g0006 | 1 | HG01123.hp2 | splice_region_variant&intron_variant | LOW | c.748+6A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 9/15 | chr7 | 75133218 | ||||||
| chr7:75133324
|
A | T | 18 | a0001c0001t0001g0150a0001c0001t0002g0164a0001c0001t0005g0017others(15): Show | 18 | HG01891.hp2 HG01934.hp1 HG02055.hp2 others(15): Show |
intron_variant | MODIFIER | c.748+112A>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 9/15 | chr7 | 75133324 | ||||||
| chr7:75133391
|
T | C | 21 | a0001c0001t0001g0150a0001c0001t0002g0164a0001c0001t0005g0017others(18): Show | 21 | HG01891.hp2 HG01934.hp1 HG02055.hp2 others(18): Show |
intron_variant | MODIFIER | c.748+179T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 9/15 | chr7 | 75133391 | ||||||
| chr7:75133513
|
G | A | 1 | a0001c0001t0006g0081 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.748+301G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 9/15 | chr7 | 75133513 | ||||||
| chr7:75133547
|
C | CT | 89 | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0018others(86): Show | 90 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(87): Show |
intron_variant | MODIFIER | c.748+348dupT | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr7 | 75133547 | |||||
| chr7:75133547
|
CT | C | 19 | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0001t0002g0164others(16): Show | 19 | HG01891.hp2 HG01934.hp1 HG02055.hp2 others(16): Show |
intron_variant | MODIFIER | c.748+348delT | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr7 | 75133547 | |||||
| chr7:75133674
|
G | C | 22 | a0001c0001t0001g0150a0001c0001t0002g0164a0001c0001t0005g0017others(19): Show | 22 | HG01891.hp2 HG01934.hp1 HG02055.hp2 others(19): Show |
intron_variant | MODIFIER | c.748+462G>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 9/15 | chr7 | 75133674 | ||||||
| chr7:75133789
|
T | A | 1 | a0001c0001t0001g0150 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.748+577T>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 9/15 | chr7 | 75133789 | ||||||
| chr7:75134020
|
C | A | 23 | a0001c0001t0001g0150a0001c0001t0002g0164a0001c0001t0010g0148others(20): Show | 23 | HG00673.hp2 HG01891.hp2 HG02055.hp2 others(20): Show |
intron_variant | MODIFIER | c.748+808C>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 9/15 | chr7 | 75134020 | ||||||
| chr7:75134033
|
G | A | 1 | a0002c0002t0002g0159 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.748+821G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 9/15 | chr7 | 75134033 | ||||||
| chr7:75134080
|
C | CA | 79 | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0018others(76): Show | 80 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(77): Show |
intron_variant | MODIFIER | c.748+885dupA | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr7 | 75134080 | |||||
| chr7:75134080
|
CA | C | 10 | a0001c0001t0001g0042a0001c0001t0001g0093a0001c0001t0001g0123others(7): Show | 10 | HG01934.hp1 HG02080.hp2 HG02647.hp2 others(7): Show |
intron_variant | MODIFIER | c.748+885delA | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr7 | 75134080 | |||||
| chr7:75134080
|
CAA | C | 16 | a0001c0001t0001g0150a0001c0001t0002g0164a0001c0001t0010g0148others(13): Show | 16 | HG01891.hp2 HG02055.hp2 HG02258.hp1 others(13): Show |
intron_variant | MODIFIER | c.748+884_748+885del others(2): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr7 | 75134080 | |||||
| chr7:75134114
|
G | A | 10 | a0001c0001t0001g0026a0001c0001t0001g0042a0001c0001t0001g0108others(7): Show | 10 | HG02145.hp1 HG02647.hp2 HG02723.hp1 others(7): Show |
intron_variant | MODIFIER | c.749-887G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 9/15 | chr7 | 75134114 | ||||||
| chr7:75134217
|
G | A | 1 | a0001c0001t0001g0049 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.749-784G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 9/15 | chr7 | 75134217 | ||||||
| chr7:75134244
|
C | T | 1 | a0002c0002t0002g0153 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.749-757C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 9/15 | chr7 | 75134244 | ||||||
| chr7:75134255
|
G | C | 1 | a0001c0001t0004g0045 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.749-746G>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 9/15 | chr7 | 75134255 | ||||||
| chr7:75134377
|
A | G | 35 | a0001c0001t0001g0026a0001c0001t0001g0042a0001c0001t0001g0108others(32): Show | 35 | HG01123.hp2 HG01169.hp1 HG01169.hp2 others(32): Show |
intron_variant | MODIFIER | c.749-624A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 9/15 | chr7 | 75134377 | ||||||
| chr7:75134631
|
T | C | 1 | a0001c0001t0001g0023 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.749-370T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 9/15 | chr7 | 75134631 | ||||||
| chr7:75134711
|
A | G | 160 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0016others(157): Show | 161 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(158): Show |
intron_variant | MODIFIER | c.749-290A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 9/15 | chr7 | 75134711 | ||||||
| chr7:75134845
|
G | A | 16 | a0001c0001t0001g0150a0001c0001t0002g0164a0001c0001t0010g0148others(13): Show | 16 | HG01891.hp2 HG02055.hp2 HG02258.hp1 others(13): Show |
intron_variant | MODIFIER | c.749-156G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 9/15 | chr7 | 75134845 | ||||||
| chr7:75134852
|
T | C | 18 | a0001c0001t0001g0150a0001c0001t0002g0164a0001c0001t0005g0017others(15): Show | 18 | HG01891.hp2 HG01934.hp1 HG02055.hp2 others(15): Show |
intron_variant | MODIFIER | c.749-149T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 9/15 | chr7 | 75134852 | ||||||
| chr7:75134859
|
G | A | 1 | a0002c0002t0002g0153 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.749-142G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 9/15 | chr7 | 75134859 | ||||||
| chr7:75134864
|
G | A | 7 | a0003c0003t0001g0030a0003c0003t0001g0031a0003c0003t0001g0033others(4): Show | 7 | HG00673.hp2 HG02165.hp1 NA18747.hp2 others(4): Show |
intron_variant | MODIFIER | c.749-137G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 9/15 | chr7 | 75134864 | ||||||
| chr7:75134909
|
C | T | 18 | a0001c0001t0001g0150a0001c0001t0002g0164a0001c0001t0005g0017others(15): Show | 18 | HG01891.hp2 HG01934.hp1 HG02055.hp2 others(15): Show |
intron_variant | MODIFIER | c.749-92C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 9/15 | chr7 | 75134909 | ||||||
| chr7:75134965
|
T | A | 7 | a0003c0003t0001g0030a0003c0003t0001g0031a0003c0003t0001g0033others(4): Show | 7 | HG00673.hp2 HG02165.hp1 NA18747.hp2 others(4): Show |
intron_variant | MODIFIER | c.749-36T>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 9/15 | chr7 | 75134965 | ||||||
| chr7:75135202
|
C | T | 1 | a0001c0001t0001g0150 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.805+145C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 10/15 | chr7 | 75135202 | ||||||
| chr7:75135226
|
T | C | 1 | a0001c0001t0001g0043 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.805+169T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 10/15 | chr7 | 75135226 | ||||||
| chr7:75135290
|
C | T | 1 | a0001c0001t0001g0150 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.805+233C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 10/15 | chr7 | 75135290 | ||||||
| chr7:75135351
|
C | T | 15 | a0001c0001t0003g0070a0001c0001t0003g0071a0001c0001t0003g0073others(12): Show | 15 | HG00642.hp2 HG00733.hp1 HG00735.hp2 others(12): Show |
intron_variant | MODIFIER | c.805+294C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 10/15 | chr7 | 75135351 | ||||||
| chr7:75135353
|
C | T | 6 | a0001c0001t0001g0150a0001c0004t0001g0005a0001c0004t0001g0054others(3): Show | 6 | HG02145.hp2 HG02622.hp2 HG02735.hp1 others(3): Show |
intron_variant | MODIFIER | c.805+296C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 10/15 | chr7 | 75135353 | ||||||
| chr7:75135381
|
A | G | 2 | a0001c0001t0001g0056a0001c0001t0001g0150 | 2 | HG02735.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.805+324A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 10/15 | chr7 | 75135381 | ||||||
| chr7:75135488
|
A | G | 1 | a0001c0004t0001g0054 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.805+431A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 10/15 | chr7 | 75135488 | ||||||
| chr7:75135498
|
G | A | 15 | a0001c0001t0003g0070a0001c0001t0003g0071a0001c0001t0003g0073others(12): Show | 15 | HG00642.hp2 HG00733.hp1 HG00735.hp2 others(12): Show |
intron_variant | MODIFIER | c.805+441G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 10/15 | chr7 | 75135498 | ||||||
| chr7:75135625
|
C | T | 1 | a0001c0001t0004g0045 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.805+568C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 10/15 | chr7 | 75135625 | ||||||
| chr7:75135813
|
C | T | 1 | a0001c0004t0001g0005 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.805+756C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 10/15 | chr7 | 75135813 | ||||||
| chr7:75136048
|
C | T | 1 | a0001c0004t0001g0147 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.806-737C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 10/15 | chr7 | 75136048 | ||||||
| chr7:75136072
|
C | T | 3 | a0001c0001t0001g0051a0001c0001t0001g0091a0003c0009t0001g0032 | 3 | HG00738.hp2 HG00741.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.806-713C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 10/15 | chr7 | 75136072 | ||||||
| chr7:75136145
|
G | GATA | 12 | a0001c0001t0003g0070a0001c0001t0003g0071a0001c0001t0003g0074others(9): Show | 12 | HG00642.hp2 HG00735.hp2 HG00741.hp1 others(9): Show |
intron_variant | MODIFIER | c.806-614_806-612dup others(3): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr7 | 75136145 | |||||
| chr7:75136145
|
GATA | G | 139 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0016others(136): Show | 140 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(137): Show |
intron_variant | MODIFIER | c.806-614_806-612del others(3): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr7 | 75136145 | |||||
| chr7:75136151
|
A | G | 1 | a0001c0001t0004g0139 | 1 | NA19083.hp2 | intron_variant | MODIFIER | c.806-634A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 10/15 | chr7 | 75136151 | ||||||
| chr7:75136298
|
GT | G | 48 | a0001c0001t0001g0025a0001c0001t0001g0123a0001c0001t0001g0150others(45): Show | 48 | HG00642.hp2 HG00673.hp2 HG00733.hp1 others(45): Show |
intron_variant | MODIFIER | c.806-469delT | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr7 | 75136298 | |||||
| chr7:75136298
|
GTT | G | 5 | a0001c0001t0001g0051a0001c0001t0001g0091a0001c0004t0001g0005others(2): Show | 5 | HG00738.hp2 HG00741.hp2 HG02145.hp2 others(2): Show |
intron_variant | MODIFIER | c.806-470_806-469del others(2): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr7 | 75136298 | |||||
| chr7:75136362
|
A | G | 1 | a0001c0001t0001g0150 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.806-423A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 10/15 | chr7 | 75136362 | ||||||
| chr7:75136467
|
A | ATTTTTGT others(182): Show |
1 | a0001c0001t0001g0150 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.806-305_806-304ins others(189): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr7 | 75136467 | |||||
| chr7:75136580
|
G | A | 1 | a0001c0001t0001g0105 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.806-205G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 10/15 | chr7 | 75136580 | ||||||
| chr7:75137007
|
C | T | 3 | a0001c0005t0001g0066a0001c0005t0001g0142a0001c0005t0001g0143 | 3 | HG02818.hp1 HG02895.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.871+157C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 11/15 | chr7 | 75137007 | ||||||
| chr7:75137094
|
C | T | 4 | a0001c0001t0004g0045a0001c0001t0004g0057a0001c0001t0005g0017others(1): Show | 4 | HG00733.hp1 HG01934.hp1 HG02080.hp2 others(1): Show |
intron_variant | MODIFIER | c.871+244C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 11/15 | chr7 | 75137094 | ||||||
| chr7:75137150
|
C | A | 31 | a0001c0001t0002g0164a0001c0001t0010g0148a0001c0004t0001g0005others(28): Show | 31 | HG00673.hp2 HG01109.hp1 HG01891.hp2 others(28): Show |
intron_variant | MODIFIER | c.871+300C>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 11/15 | chr7 | 75137150 | ||||||
| chr7:75137261
|
G | A | 13 | a0001c0001t0001g0012a0001c0001t0001g0047a0001c0001t0001g0048others(10): Show | 13 | HG00733.hp1 HG01070.hp2 HG01071.hp1 others(10): Show |
intron_variant | MODIFIER | c.871+411G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 11/15 | chr7 | 75137261 | ||||||
| chr7:75137723
|
C | T | 1 | a0001c0001t0001g0044 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.871+873C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 11/15 | chr7 | 75137723 | ||||||
| chr7:75137782
|
C | A | 6 | a0001c0001t0001g0106a0001c0001t0005g0017a0001c0001t0011g0002others(3): Show | 6 | HG01123.hp1 HG01934.hp1 HG02080.hp2 others(3): Show |
intron_variant | MODIFIER | c.871+932C>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 11/15 | chr7 | 75137782 | ||||||
| chr7:75137834
|
A | T | 3 | a0001c0005t0001g0066a0001c0005t0001g0142a0001c0005t0001g0143 | 3 | HG02818.hp1 HG02895.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.871+984A>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 11/15 | chr7 | 75137834 | ||||||
| chr7:75137983
|
A | AT | 5 | a0001c0004t0001g0005a0001c0004t0001g0054a0001c0004t0001g0147others(2): Show | 5 | HG02145.hp2 HG02622.hp2 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.872-958dupT | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr7 | 75137983 | |||||
| chr7:75137984
|
T | A | 7 | a0003c0003t0001g0030a0003c0003t0001g0031a0003c0003t0001g0033others(4): Show | 7 | HG00673.hp2 HG02165.hp1 NA18747.hp2 others(4): Show |
intron_variant | MODIFIER | c.872-966T>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 11/15 | chr7 | 75137984 | ||||||
| chr7:75138083
|
G | A | 2 | a0001c0001t0001g0038a0001c0001t0001g0130 | 2 | HG02055.hp1 HG03491.hp2 |
intron_variant | MODIFIER | c.872-867G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 11/15 | chr7 | 75138083 | ||||||
| chr7:75138202
|
A | T | 1 | a0001c0001t0001g0088 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.872-748A>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 11/15 | chr7 | 75138202 | ||||||
| chr7:75138203
|
A | G | 1 | a0001c0001t0001g0088 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.872-747A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 11/15 | chr7 | 75138203 | ||||||
| chr7:75138393
|
G | A | 1 | a0001c0001t0005g0008 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.872-557G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 11/15 | chr7 | 75138393 | ||||||
| chr7:75138479
|
T | C | 47 | a0001c0001t0002g0164a0001c0001t0003g0070a0001c0001t0003g0071others(44): Show | 47 | HG00642.hp2 HG00673.hp2 HG00733.hp1 others(44): Show |
intron_variant | MODIFIER | c.872-471T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 11/15 | chr7 | 75138479 | ||||||
| chr7:75138593
|
G | A | 1 | a0001c0001t0001g0130 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.872-357G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 11/15 | chr7 | 75138593 | ||||||
| chr7:75138660
|
C | CA | 107 | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0018others(104): Show | 108 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(105): Show |
intron_variant | MODIFIER | c.872-274dupA | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr7 | 75138660 | |||||
| chr7:75139177
|
C | T | 4 | a0001c0005t0001g0066a0001c0005t0001g0142a0001c0005t0001g0143others(1): Show | 4 | HG02818.hp1 HG02895.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.949+150C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 12/15 | chr7 | 75139177 | ||||||
| chr7:75139404
|
C | T | 6 | a0001c0001t0001g0036a0001c0001t0005g0017a0001c0001t0011g0002others(3): Show | 6 | HG00673.hp1 HG01934.hp1 HG02080.hp2 others(3): Show |
intron_variant | MODIFIER | c.949+377C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 12/15 | chr7 | 75139404 | ||||||
| chr7:75139429
|
C | G | 1 | a0001c0004t0001g0054 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.949+402C>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 12/15 | chr7 | 75139429 | ||||||
| chr7:75139430
|
A | G | 150 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0016others(147): Show | 151 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(148): Show |
intron_variant | MODIFIER | c.949+403A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 12/15 | chr7 | 75139430 | ||||||
| chr7:75139436
|
A | T | 70 | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0018others(67): Show | 71 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(68): Show |
intron_variant | MODIFIER | c.949+409A>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 12/15 | chr7 | 75139436 | ||||||
| chr7:75139551
|
G | A | 1 | a0003c0009t0001g0032 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.949+524G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 12/15 | chr7 | 75139551 | ||||||
| chr7:75139612
|
C | T | 1 | a0001c0010t0001g0069 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.949+585C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 12/15 | chr7 | 75139612 | ||||||
| chr7:75139620
|
T | C | 62 | a0001c0001t0001g0036a0001c0001t0002g0164a0001c0001t0003g0070others(59): Show | 62 | HG00642.hp2 HG00673.hp1 HG00673.hp2 others(59): Show |
intron_variant | MODIFIER | c.949+593T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 12/15 | chr7 | 75139620 | ||||||
| chr7:75139642
|
A | AAAT | 4 | a0001c0005t0001g0066a0001c0005t0001g0142a0001c0005t0001g0143others(1): Show | 4 | HG02818.hp1 HG02895.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.949+634_949+636dup others(3): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr7 | 75139642 | |||||
| chr7:75139752
|
C | T | 1 | a0001c0001t0001g0135 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.949+725C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 12/15 | chr7 | 75139752 | ||||||
| chr7:75139757
|
A | G | 1 | a0001c0010t0001g0069 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.949+730A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 12/15 | chr7 | 75139757 | ||||||
| chr7:75139889
|
AGC | A | 54 | a0001c0001t0001g0036a0001c0001t0002g0164a0001c0001t0003g0070others(51): Show | 54 | HG00642.hp2 HG00673.hp1 HG00673.hp2 others(51): Show |
intron_variant | MODIFIER | c.949+863_949+864del others(2): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 12/15 | chr7 | 75139889 | ||||||
| chr7:75139891
|
CA | C | 101 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0016others(98): Show | 102 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(99): Show |
intron_variant | MODIFIER | c.949+875delA | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr7 | 75139891 | |||||
| chr7:75139893
|
A | C | 54 | a0001c0001t0001g0036a0001c0001t0002g0164a0001c0001t0003g0070others(51): Show | 54 | HG00642.hp2 HG00673.hp1 HG00673.hp2 others(51): Show |
intron_variant | MODIFIER | c.949+866A>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 12/15 | chr7 | 75139893 | ||||||
| chr7:75139902
|
A | G | 1 | a0001c0001t0004g0139 | 1 | NA19083.hp2 | intron_variant | MODIFIER | c.949+875A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 12/15 | chr7 | 75139902 | ||||||
| chr7:75139973
|
C | T | 1 | a0003c0003t0001g0030 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.949+946C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 12/15 | chr7 | 75139973 | ||||||
| chr7:75140184
|
T | TG | 4 | a0001c0005t0001g0066a0001c0005t0001g0142a0001c0005t0001g0143others(1): Show | 4 | HG02818.hp1 HG02895.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.950-917dupG | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr7 | 75140184 | |||||
| chr7:75140189
|
T | C | 13 | a0001c0001t0003g0070a0001c0001t0003g0071a0001c0001t0003g0073others(10): Show | 13 | HG00642.hp2 HG00735.hp2 HG00741.hp1 others(10): Show |
intron_variant | MODIFIER | c.950-914T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 12/15 | chr7 | 75140189 | ||||||
| chr7:75140237
|
G | T | 1 | a0001c0010t0001g0069 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.950-866G>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 12/15 | chr7 | 75140237 | ||||||
| chr7:75140364
|
A | G | 2 | a0001c0001t0005g0014a0001c0001t0005g0015 | 2 | HG01169.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.950-739A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 12/15 | chr7 | 75140364 | ||||||
| chr7:75140441
|
C | T | 2 | a0001c0001t0005g0017a0001c0001t0011g0002 | 2 | HG01934.hp1 HG02080.hp2 |
intron_variant | MODIFIER | c.950-662C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 12/15 | chr7 | 75140441 | ||||||
| chr7:75140525
|
G | A | 4 | a0001c0005t0001g0066a0001c0005t0001g0142a0001c0005t0001g0143others(1): Show | 4 | HG02818.hp1 HG02895.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.950-578G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 12/15 | chr7 | 75140525 | ||||||
| chr7:75140527
|
C | CT | 9 | a0001c0001t0001g0028a0001c0001t0001g0062a0001c0001t0001g0102others(6): Show | 9 | HG00735.hp1 HG02145.hp2 HG03453.hp1 others(6): Show |
intron_variant | MODIFIER | c.950-553dupT | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr7 | 75140527 | |||||
| chr7:75140527
|
CT | C | 7 | a0001c0001t0001g0051a0001c0001t0001g0095a0001c0001t0005g0017others(4): Show | 7 | HG00738.hp2 HG01934.hp1 HG02080.hp2 others(4): Show |
intron_variant | MODIFIER | c.950-553delT | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr7 | 75140527 | |||||
| chr7:75140633
|
C | T | 2 | a0001c0001t0001g0108a0001c0001t0001g0109 | 2 | HG02922.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.950-470C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 12/15 | chr7 | 75140633 | ||||||
| chr7:75140715
|
G | T | 1 | a0002c0002t0002g0161 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.950-388G>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 12/15 | chr7 | 75140715 | ||||||
| chr7:75140810
|
G | A | 3 | a0001c0005t0001g0066a0001c0005t0001g0142a0001c0005t0001g0143 | 3 | HG02818.hp1 HG02895.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.950-293G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 12/15 | chr7 | 75140810 | ||||||
| chr7:75140863
|
A | G | 8 | a0003c0003t0001g0030a0003c0003t0001g0031a0003c0003t0001g0033others(5): Show | 8 | HG00673.hp2 HG02165.hp1 HG02165.hp2 others(5): Show |
intron_variant | MODIFIER | c.950-240A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 12/15 | chr7 | 75140863 | ||||||
| chr7:75140905
|
T | C | 1 | a0001c0001t0001g0042 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.950-198T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 12/15 | chr7 | 75140905 | ||||||
| chr7:75141208
|
T | C | 2 | a0001c0004t0001g0096a0001c0004t0001g0098 | 2 | HG02723.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1033+22T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 13/15 | chr7 | 75141208 | ||||||
| chr7:75141287
|
A | G | 1 | a0001c0010t0001g0069 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1033+101A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 13/15 | chr7 | 75141287 | ||||||
| chr7:75141471
|
T | G | 4 | a0001c0005t0001g0066a0001c0005t0001g0142a0001c0005t0001g0143others(1): Show | 4 | HG02818.hp1 HG02895.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.1033+285T>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 13/15 | chr7 | 75141471 | ||||||
| chr7:75141544
|
CA | C | 4 | a0001c0005t0001g0066a0001c0005t0001g0142a0001c0005t0001g0143others(1): Show | 4 | HG02818.hp1 HG02895.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.1033+365delA | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | 75141544 | |||||
| chr7:75141557
|
C | T | 1 | a0001c0001t0004g0046 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.1033+371C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 13/15 | chr7 | 75141557 | ||||||
| chr7:75141558
|
G | A | 11 | a0001c0001t0001g0028a0001c0001t0001g0114a0001c0001t0006g0084others(8): Show | 11 | HG00673.hp2 HG02165.hp1 HG02683.hp1 others(8): Show |
intron_variant | MODIFIER | c.1033+372G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 13/15 | chr7 | 75141558 | ||||||
| chr7:75141633
|
A | G | 4 | a0001c0005t0001g0066a0001c0005t0001g0142a0001c0005t0001g0143others(1): Show | 4 | HG02818.hp1 HG02895.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.1033+447A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 13/15 | chr7 | 75141633 | ||||||
| chr7:75141679
|
C | T | 2 | a0003c0003t0001g0030a0003c0003t0001g0035 | 2 | NA18988.hp2 NA19056.hp1 |
intron_variant | MODIFIER | c.1033+493C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 13/15 | chr7 | 75141679 | ||||||
| chr7:75141687
|
T | C | 4 | a0001c0005t0001g0066a0001c0005t0001g0142a0001c0005t0001g0143others(1): Show | 4 | HG02818.hp1 HG02895.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.1033+501T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 13/15 | chr7 | 75141687 | ||||||
| chr7:75141700
|
C | CA | 6 | a0001c0001t0001g0061a0001c0001t0012g0003a0001c0005t0001g0066others(3): Show | 6 | HG02818.hp1 HG02895.hp1 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.1033+533dupA | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | 75141700 | |||||
| chr7:75141700
|
CA | C | 15 | a0001c0001t0001g0088a0001c0001t0003g0070a0001c0001t0003g0071others(12): Show | 15 | HG00642.hp2 HG00735.hp2 HG00741.hp1 others(12): Show |
intron_variant | MODIFIER | c.1033+533delA | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | 75141700 | |||||
| chr7:75141860
|
A | G | 4 | a0001c0005t0001g0066a0001c0005t0001g0142a0001c0005t0001g0143others(1): Show | 4 | HG02818.hp1 HG02895.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.1034-622A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 13/15 | chr7 | 75141860 | ||||||
| chr7:75141955
|
G | A | 4 | a0001c0005t0001g0066a0001c0005t0001g0142a0001c0005t0001g0143others(1): Show | 4 | HG02818.hp1 HG02895.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.1034-527G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 13/15 | chr7 | 75141955 | ||||||
| chr7:75142187
|
G | GCAGGGTC others(22): Show |
1 | a0001c0001t0004g0064 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.1034-294_1034-266d others(31): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | 75142187 | |||||
| chr7:75142237
|
C | A | 1 | a0001c0010t0001g0069 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1034-245C>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 13/15 | chr7 | 75142237 | ||||||
| chr7:75142260
|
G | A | 19 | a0001c0001t0002g0164a0001c0001t0010g0148a0002c0002t0002g0152others(16): Show | 19 | HG01109.hp1 HG01891.hp2 HG02055.hp2 others(16): Show |
intron_variant | MODIFIER | c.1034-222G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 13/15 | chr7 | 75142260 | ||||||
| chr7:75142301
|
C | T | 1 | a0007c0008t0001g0126 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.1034-181C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 13/15 | chr7 | 75142301 | ||||||
| chr7:75142315
|
T | TTG | 3 | a0001c0001t0005g0017a0001c0001t0011g0002a0001c0004t0001g0054 | 3 | HG01934.hp1 HG02080.hp2 NA19056.hp2 |
intron_variant | MODIFIER | c.1034-165_1034-164d others(4): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | 75142315 | |||||
| chr7:75142355
|
G | T | 4 | a0001c0005t0001g0066a0001c0005t0001g0142a0001c0005t0001g0143others(1): Show | 4 | HG02818.hp1 HG02895.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.1034-127G>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 13/15 | chr7 | 75142355 | ||||||
| chr7:75142700
|
G | A | 1 | a0001c0010t0001g0069 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1217+35G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 14/15 | chr7 | 75142700 | ||||||
| chr7:75142912
|
A | G | 72 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(69): Show | 72 | HG00642.hp2 HG00673.hp2 HG00733.hp1 others(69): Show |
intron_variant | MODIFIER | c.1217+247A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 14/15 | chr7 | 75142912 | ||||||
| chr7:75142914
|
T | C | 4 | a0001c0005t0001g0066a0001c0005t0001g0142a0001c0005t0001g0143others(1): Show | 4 | HG02818.hp1 HG02895.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.1217+249T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 14/15 | chr7 | 75142914 | ||||||
| chr7:75143060
|
C | T | 3 | a0001c0005t0001g0066a0001c0005t0001g0142a0001c0005t0001g0143 | 3 | HG02818.hp1 HG02895.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.1217+395C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 14/15 | chr7 | 75143060 | ||||||
| chr7:75143291
|
G | A | 3 | a0001c0001t0001g0121a0001c0001t0001g0122a0001c0001t0004g0064 | 3 | HG00544.hp1 NA18945.hp2 NA18955.hp2 |
intron_variant | MODIFIER | c.1217+626G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 14/15 | chr7 | 75143291 | ||||||
| chr7:75143541
|
G | A | 5 | a0001c0001t0001g0063a0001c0005t0001g0066a0001c0005t0001g0142others(2): Show | 5 | HG00597.hp1 HG02818.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.1218-409G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 14/15 | chr7 | 75143541 | ||||||
| chr7:75143746
|
A | G | 62 | a0001c0001t0001g0042a0001c0001t0002g0164a0001c0001t0003g0070others(59): Show | 62 | HG00642.hp2 HG00673.hp2 HG00735.hp2 others(59): Show |
intron_variant | MODIFIER | c.1218-204A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 14/15 | chr7 | 75143746 | ||||||
| chr7:75143759
|
C | G | 1 | a0001c0004t0001g0005 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.1218-191C>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 14/15 | chr7 | 75143759 | ||||||
| chr7:75143761
|
C | A | 15 | a0001c0001t0003g0070a0001c0001t0003g0071a0001c0001t0003g0073others(12): Show | 15 | HG00642.hp2 HG00733.hp1 HG00735.hp2 others(12): Show |
intron_variant | MODIFIER | c.1218-189C>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 14/15 | chr7 | 75143761 | ||||||
| chr7:75143922
|
A | G | 4 | a0001c0005t0001g0066a0001c0005t0001g0142a0001c0005t0001g0143others(1): Show | 4 | HG02818.hp1 HG02895.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.1218-28A>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 14/15 | chr7 | 75143922 | ||||||
| chr7:75144058
|
T | C | 2 | a0001c0001t0001g0038a0001c0001t0001g0130 | 2 | HG02055.hp1 HG03491.hp2 |
intron_variant | MODIFIER | c.1246+80T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 15/15 | chr7 | 75144058 | ||||||
| chr7:75144670
|
T | C | 1 | a0001c0001t0005g0008 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.1246+692T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 15/15 | chr7 | 75144670 | ||||||
| chr7:75144778
|
T | C | 22 | a0001c0001t0001g0026a0001c0001t0001g0108a0001c0001t0001g0109others(19): Show | 22 | HG00642.hp2 HG00733.hp1 HG00735.hp2 others(19): Show |
intron_variant | MODIFIER | c.1246+800T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 15/15 | chr7 | 75144778 | ||||||
| chr7:75144872
|
C | T | 1 | a0001c0001t0003g0079 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.1246+894C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 15/15 | chr7 | 75144872 | ||||||
| chr7:75144927
|
C | G | 1 | a0001c0010t0001g0069 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1246+949C>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 15/15 | chr7 | 75144927 | ||||||
| chr7:75144927
|
C | T | 2 | a0004c0006t0001g0067a0004c0006t0001g0068 | 2 | HG02622.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.1246+949C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 15/15 | chr7 | 75144927 | ||||||
| chr7:75144928
|
G | A | 3 | a0001c0005t0001g0066a0001c0005t0001g0142a0001c0005t0001g0143 | 3 | HG02818.hp1 HG02895.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.1246+950G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 15/15 | chr7 | 75144928 | ||||||
| chr7:75145005
|
C | T | 1 | a0001c0001t0001g0114 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.1246+1027C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 15/15 | chr7 | 75145005 | ||||||
| chr7:75145013
|
C | T | 1 | a0001c0001t0003g0085 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.1246+1035C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 15/15 | chr7 | 75145013 | ||||||
| chr7:75145183
|
A | C | 1 | a0001c0004t0001g0005 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.1246+1205A>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 15/15 | chr7 | 75145183 | ||||||
| chr7:75145204
|
C | T | 2 | a0001c0001t0003g0082a0001c0001t0003g0083 | 2 | HG03516.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.1246+1226C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 15/15 | chr7 | 75145204 | ||||||
| chr7:75145301
|
T | TC | 6 | a0001c0001t0001g0043a0001c0001t0001g0121a0001c0001t0001g0130others(3): Show | 6 | HG00544.hp1 HG00597.hp2 HG02055.hp1 others(3): Show |
intron_variant | MODIFIER | c.1246+1329dupC | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr7 | 75145301 | |||||
| chr7:75145588
|
C | T | 3 | a0001c0005t0001g0066a0001c0005t0001g0142a0001c0005t0001g0143 | 3 | HG02818.hp1 HG02895.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.1246+1610C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 15/15 | chr7 | 75145588 | ||||||
| chr7:75145681
|
T | C | 5 | a0001c0001t0001g0108a0001c0001t0001g0109a0001c0005t0001g0066others(2): Show | 5 | HG02818.hp1 HG02895.hp1 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.1246+1703T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 15/15 | chr7 | 75145681 | ||||||
| chr7:75145731
|
CA | C | 142 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0016others(139): Show | 143 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(140): Show |
intron_variant | MODIFIER | c.1246+1770delA | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr7 | 75145731 | |||||
| chr7:75145744
|
A | AAAG | 5 | a0001c0001t0005g0017a0001c0001t0011g0002a0001c0005t0001g0066others(2): Show | 5 | HG01934.hp1 HG02080.hp2 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.1246+1768_1246+176 others(7): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr7 | 75145744 | |||||
| chr7:75145778
|
T | C | 1 | a0003c0011t0001g0037 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.1246+1800T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 15/15 | chr7 | 75145778 | ||||||
| chr7:75145832
|
T | C | 1 | a0001c0001t0001g0016 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.1246+1854T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 15/15 | chr7 | 75145832 | ||||||
| chr7:75145983
|
C | T | 13 | a0001c0001t0003g0070a0001c0001t0003g0071a0001c0001t0003g0073others(10): Show | 13 | HG00642.hp2 HG00735.hp2 HG00741.hp1 others(10): Show |
intron_variant | MODIFIER | c.1247-1711C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 15/15 | chr7 | 75145983 | ||||||
| chr7:75145984
|
G | A | 89 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0016others(86): Show | 90 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(87): Show |
intron_variant | MODIFIER | c.1247-1710G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 15/15 | chr7 | 75145984 | ||||||
| chr7:75146017
|
A | AT | 55 | a0001c0001t0001g0028a0001c0001t0001g0036a0001c0001t0001g0042others(52): Show | 55 | HG00597.hp1 HG00597.hp2 HG00642.hp1 others(52): Show |
intron_variant | MODIFIER | c.1247-1655dupT | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr7 | 75146017 | |||||
| chr7:75146017
|
A | ATT | 9 | a0001c0001t0005g0017a0001c0001t0008g0053a0001c0001t0012g0003others(6): Show | 9 | HG00673.hp2 HG02080.hp2 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.1247-1656_1247-165 others(6): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr7 | 75146017 | |||||
| chr7:75146017
|
AT | A | 11 | a0001c0001t0001g0029a0001c0001t0001g0125a0001c0001t0004g0004others(8): Show | 11 | HG01123.hp2 HG01169.hp1 HG01169.hp2 others(8): Show |
intron_variant | MODIFIER | c.1247-1655delT | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr7 | 75146017 | |||||
| chr7:75146131
|
T | C | 1 | a0001c0001t0001g0149 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.1247-1563T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 15/15 | chr7 | 75146131 | ||||||
| chr7:75146197
|
T | G | 1 | a0001c0004t0001g0054 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.1247-1497T>G | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 15/15 | chr7 | 75146197 | ||||||
| chr7:75146253
|
T | C | 166 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0012others(163): Show | 167 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(164): Show |
intron_variant | MODIFIER | c.1247-1441T>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 15/15 | chr7 | 75146253 | ||||||
| chr7:75146773
|
C | T | 1 | a0001c0001t0001g0131 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.1247-921C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 15/15 | chr7 | 75146773 | ||||||
| chr7:75146877
|
C | T | 13 | a0001c0001t0003g0070a0001c0001t0003g0071a0001c0001t0003g0073others(10): Show | 13 | HG00642.hp2 HG00735.hp2 HG00741.hp1 others(10): Show |
intron_variant | MODIFIER | c.1247-817C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 15/15 | chr7 | 75146877 | ||||||
| chr7:75147088
|
A | C | 6 | a0001c0001t0001g0026a0001c0001t0001g0108a0001c0001t0001g0109others(3): Show | 6 | HG02145.hp1 HG02723.hp1 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.1247-606A>C | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 15/15 | chr7 | 75147088 | ||||||
| chr7:75147390
|
G | A | 1 | a0001c0001t0008g0053 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1247-304G>A | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 15/15 | chr7 | 75147390 | ||||||
| chr7:75147605
|
C | T | 47 | a0001c0001t0002g0164a0001c0001t0003g0070a0001c0001t0003g0071others(44): Show | 47 | HG00642.hp2 HG00673.hp2 HG00733.hp1 others(44): Show |
intron_variant | MODIFIER | c.1247-89C>T | GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 15/15 | chr7 | 75147605 |