Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 55636 |
|---|---|
| ensemblid | ENSG00000171316.14 |
| hgncid | 20626 |
| symbol | CHD7 |
| name | chromodomain helicase DNA binding protein 7 |
| refseq_nuc | NM_017780.4 |
| refseq_prot | NP_060250.2 |
| ensembl_nuc | ENST00000423902.7 |
| ensembl_prot | ENSP00000392028.1 |
| mane_status | MANE Select |
| chr | chr8 |
| start | 60678740 |
| end | 60868028 |
| strand | + |
| ver | v1.2 |
| region | chr8:60678740-60868028 |
| region5000 | chr8:60673740-60873028 |
| regionname0 | CHD7_chr8_60678740_60868028 |
| regionname5000 | CHD7_chr8_60673740_60873028 |
| ahapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 2997 | 216 | 57 | 42 | 82 | 11 | 22 | 67 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0002 | 0/0 | 2997 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0003 | 0/0 | 2997 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0004 | 0/0 | 2997 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0005 | 0/0 | 2997 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0006 | 0/0 | 2997 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0007 | 0/0 | 2997 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0008 | 0/0 | 2997 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0009 | 0/0 | 2997 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0010 | 0/0 | 2997 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0011 | 0/0 | 2997 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0012 | 0/0 | 2997 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0013 | 0/0 | 2997 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0014 | 0/0 | 2997 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0015 | 0/0 | 2997 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0016 | 0/0 | 2997 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0017 | 0/0 | 2997 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0018 | 0/0 | 2997 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0019 | 0/0 | 2997 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0020 | 0/0 | 2997 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| chapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 1/1 | 8994 | 159 | 24 | 35 | 74 | 9 | 15 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| c0002 | 0/0 | 8994 | 27 | 16 | 3 | 5 | 1 | 2 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| c0003 | 0/0 | 8994 | 6 | 6 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| c0004 | 0/0 | 8994 | 3 | 0 | 1 | 2 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| c0005 | 0/0 | 8994 | 3 | 1 | 0 | 0 | 1 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| c0006 | 0/0 | 8994 | 2 | 1 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| c0007 | 0/0 | 8994 | 2 | 2 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| c0008 | 0/0 | 8994 | 2 | 2 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| c0009 | 0/0 | 8994 | 2 | 2 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| c0010 | 0/0 | 8994 | 2 | 0 | 1 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| c0011 | 0/0 | 8994 | 1 | 0 | 0 | 0 | 1 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| c0012 | 0/0 | 8994 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| c0013 | 0/0 | 8994 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| c0014 | 0/0 | 8994 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| c0015 | 0/0 | 8994 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| c0016 | 0/0 | 8994 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| c0017 | 0/0 | 8994 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| c0018 | 0/0 | 8994 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| c0019 | 0/0 | 8994 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| c0020 | 0/0 | 8994 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| c0021 | 0/0 | 8994 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| c0022 | 0/0 | 8994 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| c0023 | 0/0 | 8994 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| c0024 | 0/0 | 8994 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| c0025 | 0/0 | 8994 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| c0026 | 0/0 | 8994 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| c0027 | 0/0 | 8994 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| c0028 | 0/0 | 8994 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| c0029 | 0/0 | 8994 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| c0030 | 0/0 | 8994 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| c0031 | 0/0 | 8994 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| c0032 | 0/0 | 8994 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| c0033 | 0/0 | 8994 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| c0034 | 0/0 | 8994 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| c0035 | 0/0 | 8994 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| c0036 | 0/0 | 8994 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| c0037 | 0/0 | 8994 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| c0038 | 0/0 | 8994 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| thapid | grch38chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 0/1 | 2616 | 43 | 1 | 14 | 18 | 2 | 7 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0002 | 1/0 | 2613 | 37 | 4 | 13 | 13 | 4 | 2 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0003 | 0/0 | 2616 | 20 | 0 | 0 | 16 | 3 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0004 | 0/0 | 2619 | 19 | 6 | 2 | 10 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0005 | 0/0 | 2615 | 14 | 9 | 2 | 0 | 1 | 2 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0006 | 0/0 | 2615 | 13 | 9 | 0 | 4 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0007 | 0/0 | 2616 | 11 | 3 | 4 | 3 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0008 | 0/0 | 2619 | 8 | 0 | 0 | 7 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0009 | 0/0 | 2616 | 6 | 4 | 2 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0010 | 0/0 | 2616 | 4 | 4 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0011 | 0/0 | 2616 | 4 | 0 | 0 | 3 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0012 | 0/0 | 2616 | 4 | 2 | 1 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0013 | 0/0 | 2616 | 4 | 2 | 0 | 0 | 0 | 2 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0014 | 0/0 | 2619 | 3 | 2 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0015 | 0/0 | 2622 | 3 | 0 | 0 | 1 | 2 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0016 | 0/0 | 2616 | 3 | 1 | 0 | 0 | 0 | 2 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0017 | 0/0 | 2613 | 2 | 2 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0018 | 0/0 | 2613 | 2 | 2 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0019 | 0/0 | 2613 | 2 | 0 | 1 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0020 | 0/0 | 2657 | 2 | 0 | 0 | 0 | 0 | 2 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0021 | 0/0 | 2619 | 2 | 0 | 0 | 2 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0022 | 0/0 | 2649 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0023 | 0/0 | 2634 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0024 | 0/0 | 2616 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0025 | 0/0 | 2616 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0026 | 0/0 | 2616 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0027 | 0/0 | 2959 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0028 | 0/0 | 2615 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0029 | 0/0 | 2615 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0030 | 0/0 | 2619 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0031 | 0/0 | 2619 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0032 | 0/0 | 2622 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0033 | 0/0 | 2601 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0034 | 0/0 | 2625 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0035 | 0/0 | 2630 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0036 | 0/0 | 2613 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0037 | 0/0 | 2613 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0038 | 0/0 | 2619 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0039 | 0/0 | 2619 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0040 | 0/0 | 2622 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0041 | 0/0 | 2622 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0042 | 0/0 | 2622 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0043 | 0/0 | 2631 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0044 | 0/0 | 2631 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0045 | 0/0 | 2640 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0046 | 0/0 | 2640 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0047 | 0/0 | 2643 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0048 | 0/0 | 2655 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0049 | 0/0 | 2619 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0050 | 0/0 | 2618 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| t0051 | 0/0 | 2624 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| ghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0002 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0004 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0014 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0016 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0017 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0024 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0028 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0031 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0032 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0033 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0036 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0044 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0046 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0047 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0051 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0052 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0075 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0076 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0084 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0085 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0100 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0110 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0111 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0112 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0113 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0120 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0123 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0130 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0131 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0134 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0135 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0137 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0142 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0148 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0149 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0150 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0151 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0153 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0155 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0158 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0159 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0163 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0166 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0169 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0170 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0171 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0172 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0173 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0174 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0176 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0180 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0181 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0182 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0183 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0184 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0185 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0186 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0188 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0189 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0195 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0196 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0198 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0199 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0201 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0203 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0204 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0205 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0209 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0210 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0211 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0212 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0215 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0217 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0219 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0220 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0221 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0222 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0223 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0224 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0225 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0227 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0228 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0229 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0230 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0231 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0232 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0233 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0234 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0235 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| g0236 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| achapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 8994 | 159 | 24 | 35 | 74 | 9 | 15 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0002 | 0/0 | 8994 | 27 | 16 | 3 | 5 | 1 | 2 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0003 | 0/0 | 8994 | 6 | 6 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0004 | 0/0 | 8994 | 3 | 0 | 1 | 2 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0005 | 0/0 | 8994 | 3 | 1 | 0 | 0 | 1 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0006 | 0/0 | 8994 | 2 | 1 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0007 | 0/0 | 8994 | 2 | 2 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0008 | 0/0 | 8994 | 2 | 2 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0010 | 0/0 | 8994 | 2 | 0 | 1 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0016 | 0/0 | 8994 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0018 | 0/0 | 8994 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0019 | 0/0 | 8994 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0021 | 0/0 | 8994 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0024 | 0/0 | 8994 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0027 | 0/0 | 8994 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0032 | 0/0 | 8994 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0033 | 0/0 | 8994 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0036 | 0/0 | 8994 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0038 | 0/0 | 8994 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0002c0009 | 0/0 | 8994 | 2 | 2 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0003c0035 | 0/0 | 8994 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0004c0029 | 0/0 | 8994 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0005c0020 | 0/0 | 8994 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0006c0037 | 0/0 | 8994 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0007c0025 | 0/0 | 8994 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0008c0028 | 0/0 | 8994 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0009c0023 | 0/0 | 8994 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0010c0017 | 0/0 | 8994 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0011c0026 | 0/0 | 8994 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0012c0022 | 0/0 | 8994 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0013c0012 | 0/0 | 8994 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0014c0030 | 0/0 | 8994 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0015c0015 | 0/0 | 8994 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0016c0031 | 0/0 | 8994 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0017c0034 | 0/0 | 8994 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0018c0014 | 0/0 | 8994 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0019c0013 | 0/0 | 8994 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0020c0011 | 0/0 | 8994 | 1 | 0 | 0 | 0 | 1 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/1 | 11609 | 40 | 1 | 13 | 16 | 2 | 7 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0001t0002 | 1/0 | 11606 | 29 | 3 | 11 | 11 | 2 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0001t0003 | 0/0 | 11609 | 18 | 0 | 0 | 15 | 3 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0001t0004 | 0/0 | 11612 | 12 | 1 | 2 | 8 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0001t0007 | 0/0 | 11609 | 8 | 3 | 2 | 2 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0001t0008 | 0/0 | 11612 | 6 | 0 | 0 | 6 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0001t0009 | 0/0 | 11609 | 6 | 4 | 2 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0001t0011 | 0/0 | 11609 | 3 | 0 | 0 | 3 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0001t0012 | 0/0 | 11609 | 3 | 2 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0001t0013 | 0/0 | 11609 | 2 | 0 | 0 | 0 | 0 | 2 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0001t0014 | 0/0 | 11612 | 2 | 1 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0001t0015 | 0/0 | 11615 | 3 | 0 | 0 | 1 | 2 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0001t0016 | 0/0 | 11609 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0001t0017 | 0/0 | 11606 | 2 | 2 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0001t0018 | 0/0 | 11606 | 2 | 2 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0001t0019 | 0/0 | 11606 | 2 | 0 | 1 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0001t0021 | 0/0 | 11612 | 2 | 0 | 0 | 2 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0001t0022 | 0/0 | 11642 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0001t0023 | 0/0 | 11627 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0001t0025 | 0/0 | 11609 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0001t0031 | 0/0 | 11612 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0001t0032 | 0/0 | 11615 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0001t0033 | 0/0 | 11594 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0001t0034 | 0/0 | 11618 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0001t0039 | 0/0 | 11612 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0001t0040 | 0/0 | 11615 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0001t0041 | 0/0 | 11615 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0001t0042 | 0/0 | 11615 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0001t0043 | 0/0 | 11624 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0001t0044 | 0/0 | 11624 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0001t0045 | 0/0 | 11633 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0001t0046 | 0/0 | 11633 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0001t0047 | 0/0 | 11636 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0001t0048 | 0/0 | 11648 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0001t0049 | 0/0 | 11612 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0002t0005 | 0/0 | 11608 | 10 | 8 | 1 | 0 | 1 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0002t0006 | 0/0 | 11608 | 12 | 8 | 0 | 4 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0002t0020 | 0/0 | 11650 | 2 | 0 | 0 | 0 | 0 | 2 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0002t0029 | 0/0 | 11608 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0002t0050 | 0/0 | 11611 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0002t0051 | 0/0 | 11617 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0003t0004 | 0/0 | 11612 | 5 | 5 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0003t0030 | 0/0 | 11612 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0004t0002 | 0/0 | 11606 | 3 | 0 | 1 | 2 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0005t0002 | 0/0 | 11606 | 3 | 1 | 0 | 0 | 1 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0006t0006 | 0/0 | 11608 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0006t0016 | 0/0 | 11609 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0007t0005 | 0/0 | 11608 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0007t0035 | 0/0 | 11623 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0008t0010 | 0/0 | 11609 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0008t0014 | 0/0 | 11612 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0010t0007 | 0/0 | 11609 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0010t0011 | 0/0 | 11609 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0016t0005 | 0/0 | 11608 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0018t0005 | 0/0 | 11608 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0019t0010 | 0/0 | 11609 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0021t0012 | 0/0 | 11609 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0024t0004 | 0/0 | 11612 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0027t0027 | 0/0 | 11952 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0032t0028 | 0/0 | 11608 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0033t0001 | 0/0 | 11609 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0036t0026 | 0/0 | 11609 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0001c0038t0010 | 0/0 | 11609 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0002c0009t0013 | 0/0 | 11609 | 2 | 2 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0003c0035t0038 | 0/0 | 11612 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0004c0029t0008 | 0/0 | 11612 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0005c0020t0004 | 0/0 | 11612 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0006c0037t0036 | 0/0 | 11606 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0007c0025t0002 | 0/0 | 11606 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0008c0028t0037 | 0/0 | 11606 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0009c0023t0001 | 0/0 | 11609 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0010c0017t0005 | 0/0 | 11608 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0011c0026t0007 | 0/0 | 11609 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0012c0022t0008 | 0/0 | 11612 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0013c0012t0024 | 0/0 | 11609 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0014c0030t0016 | 0/0 | 11609 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0015c0015t0010 | 0/0 | 11609 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0016c0031t0003 | 0/0 | 11609 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0017c0034t0007 | 0/0 | 11609 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0018c0014t0003 | 0/0 | 11609 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0019c0013t0001 | 0/0 | 11609 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| a0020c0011t0002 | 0/0 | 11606 | 1 | 0 | 0 | 0 | 1 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | copy fasta | chr8 | 60673740 | 60873028 |
| actghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0001g0004 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0001g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0001g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0001g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0001g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0001g0014 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0001g0024 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0001g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0001g0028 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0001g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0001g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0001g0051 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0001g0052 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0001g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0001g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0001g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0001g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0001g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0001g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0001g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0001g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0001g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0001g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0001g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0001g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0001g0075 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0001g0076 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0001g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0001g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0001g0123 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0001g0149 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0001g0151 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0001g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0001g0153 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0001g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0001g0155 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0001g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0001g0158 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0001g0232 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0002g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0002g0110 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0002g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0002g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0002g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0002g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0002g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0002g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0002g0131 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0002g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0002g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0002g0180 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0002g0181 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0002g0182 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0002g0188 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0002g0189 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0002g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0002g0195 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0002g0196 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0002g0198 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0002g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0002g0201 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0002g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0002g0203 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0002g0204 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0002g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0002g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0002g0209 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0002g0212 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0003g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0003g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0003g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0003g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0003g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0003g0046 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0003g0047 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0003g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0003g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0003g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0003g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0003g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0003g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0003g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0003g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0003g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0003g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0003g0148 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0004g0036 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0004g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0004g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0004g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0004g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0004g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0004g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0004g0134 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0004g0135 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0004g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0004g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0004g0217 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0007g0002 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0007g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0007g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0007g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0007g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0007g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0007g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0007g0223 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0008g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0008g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0008g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0008g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0008g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0008g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0009g0224 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0009g0225 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0009g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0009g0227 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0009g0228 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0009g0229 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0011g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0011g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0011g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0012g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0012g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0012g0112 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0013g0032 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0013g0100 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0014g0221 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0014g0233 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0015g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0015g0130 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0015g0137 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0016g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0017g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0017g0231 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0018g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0018g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0019g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0019g0211 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0021g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0021g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0022g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0023g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0025g0142 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0031g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0032g0016 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0033g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0034g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0039g0220 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0040g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0041g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0042g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0043g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0044g0001 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0045g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0046g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0047g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0048g0044 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0001t0049g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0002t0005g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0002t0005g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0002t0005g0111 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0002t0005g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0002t0005g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0002t0005g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0002t0005g0166 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0002t0005g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0002t0005g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0002t0005g0183 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0002t0006g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0002t0006g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0002t0006g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0002t0006g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0002t0006g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0002t0006g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0002t0006g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0002t0006g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0002t0006g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0002t0006g0230 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0002t0006g0234 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0002t0006g0235 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0002t0020g0084 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0002t0020g0085 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0002t0029g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0002t0050g0163 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0002t0051g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0003t0004g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0003t0004g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0003t0004g0171 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0003t0004g0172 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0003t0004g0186 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0003t0030g0173 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0004t0002g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0004t0002g0176 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0004t0002g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0005t0002g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0005t0002g0210 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0005t0002g0215 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0006t0006g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0006t0016g0120 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0007t0005g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0007t0035g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0008t0010g0236 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0008t0014g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0010t0007g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0010t0011g0159 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0016t0005g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0018t0005g0184 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0019t0010g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0021t0012g0031 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0024t0004g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0027t0027g0185 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0032t0028g0174 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0033t0001g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0036t0026g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0001c0038t0010g0169 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0002c0009t0013g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0002c0009t0013g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0003c0035t0038g0219 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0004c0029t0008g0150 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0005c0020t0004g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0006c0037t0036g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0007c0025t0002g0199 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0008c0028t0037g0170 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0009c0023t0001g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0010c0017t0005g0113 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0011c0026t0007g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0012c0022t0008g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0013c0012t0024g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0014c0030t0016g0033 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0015c0015t0010g0222 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0016c0031t0003g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0017c0034t0007g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0018c0014t0003g0017 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0019c0013t0001g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| a0020c0011t0002g0205 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0002 | t0005 | g0111 | EUR | GBR | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG00099 | hp2 | a0001 | c0005 | t0002 | g0215 | EUR | GBR | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG00140 | hp1 | a0001 | c0001 | t0002 | g0182 | EUR | GBR | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG00140 | hp2 | a0001 | c0001 | t0003 | g0148 | EUR | GBR | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG00280 | hp1 | a0001 | c0001 | t0001 | g0051 | EUR | FIN | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG00280 | hp2 | a0020 | c0011 | t0002 | g0205 | EUR | FIN | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG00438 | hp1 | a0001 | c0001 | t0002 | g0190 | EAS | CHS | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG00438 | hp2 | a0001 | c0001 | t0001 | g0152 | EAS | CHS | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG00558 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | CHS | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG00558 | hp2 | a0001 | c0001 | t0003 | g0079 | EAS | CHS | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG00639 | hp1 | a0001 | c0001 | t0001 | g0155 | AMR | PUR | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG00639 | hp2 | a0001 | c0001 | t0019 | g0211 | AMR | PUR | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG00642 | hp1 | a0001 | c0001 | t0022 | g0144 | AMR | PUR | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG00642 | hp2 | a0001 | c0001 | t0001 | g0158 | AMR | PUR | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG00673 | hp1 | a0001 | c0001 | t0011 | g0090 | EAS | CHS | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG00673 | hp2 | a0001 | c0001 | t0002 | g0116 | EAS | CHS | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG00735 | hp1 | a0001 | c0001 | t0002 | g0195 | AMR | PUR | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG00735 | hp2 | a0001 | c0016 | t0005 | g0121 | AMR | PUR | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG00741 | hp1 | a0001 | c0010 | t0007 | g0056 | AMR | PUR | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG00741 | hp2 | a0001 | c0001 | t0014 | g0221 | AMR | PUR | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG01069 | hp1 | a0001 | c0001 | t0012 | g0112 | AMR | PUR | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG01069 | hp2 | a0001 | c0001 | t0002 | g0203 | AMR | PUR | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG01070 | hp1 | a0001 | c0001 | t0009 | g0224 | AMR | PUR | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG01070 | hp2 | a0001 | c0001 | t0002 | g0181 | AMR | PUR | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG01071 | hp1 | a0001 | c0001 | t0009 | g0225 | AMR | PUR | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG01071 | hp2 | a0001 | c0001 | t0002 | g0198 | AMR | PUR | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG01081 | hp1 | a0001 | c0001 | t0001 | g0053 | AMR | PUR | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG01081 | hp2 | a0001 | c0001 | t0007 | g0143 | AMR | PUR | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG01099 | hp1 | a0001 | c0001 | t0001 | g0057 | AMR | PUR | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG01099 | hp2 | a0001 | c0001 | t0002 | g0196 | AMR | PUR | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG01109 | hp1 | a0001 | c0001 | t0001 | g0153 | AMR | PUR | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG01109 | hp2 | a0001 | c0002 | t0005 | g0164 | AMR | PUR | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG01169 | hp1 | a0001 | c0001 | t0001 | g0049 | AMR | PUR | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG01169 | hp2 | a0001 | c0001 | t0002 | g0212 | AMR | PUR | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG01175 | hp1 | a0001 | c0001 | t0004 | g0036 | AMR | PUR | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG01175 | hp2 | a0017 | c0034 | t0007 | g0015 | AMR | PUR | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG01192 | hp1 | a0001 | c0002 | t0051 | g0030 | AMR | PUR | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG01192 | hp2 | a0001 | c0004 | t0002 | g0176 | AMR | PUR | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG01243 | hp1 | a0001 | c0002 | t0050 | g0163 | AMR | PUR | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG01243 | hp2 | a0001 | c0001 | t0002 | g0188 | AMR | PUR | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG01255 | hp1 | a0001 | c0001 | t0004 | g0134 | AMR | CLM | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG01255 | hp2 | a0001 | c0001 | t0001 | g0093 | AMR | CLM | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG01258 | hp1 | a0001 | c0001 | t0001 | g0123 | AMR | CLM | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG01258 | hp2 | a0001 | c0001 | t0002 | g0209 | AMR | CLM | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG01515 | hp1 | a0001 | c0001 | t0002 | g0204 | EUR | IBS | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG01515 | hp2 | a0001 | c0001 | t0003 | g0047 | EUR | IBS | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG01928 | hp1 | a0001 | c0001 | t0025 | g0142 | AMR | PEL | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG01928 | hp2 | a0001 | c0033 | t0001 | g0010 | AMR | PEL | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG01934 | hp1 | a0001 | c0001 | t0002 | g0110 | AMR | PEL | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG01934 | hp2 | a0001 | c0001 | t0001 | g0058 | AMR | PEL | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG01975 | hp1 | a0001 | c0001 | t0002 | g0125 | AMR | PEL | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG01975 | hp2 | a0001 | c0001 | t0001 | g0052 | AMR | PEL | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG01993 | hp1 | a0001 | c0001 | t0002 | g0201 | AMR | PEL | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG01993 | hp2 | a0001 | c0001 | t0001 | g0060 | AMR | PEL | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02004 | hp1 | a0001 | c0001 | t0001 | g0059 | AMR | PEL | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02004 | hp2 | a0007 | c0025 | t0002 | g0199 | AMR | PEL | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02055 | hp1 | a0001 | c0003 | t0004 | g0107 | AFR | ACB | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02055 | hp2 | a0001 | c0001 | t0049 | g0029 | AFR | ACB | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02080 | hp1 | a0001 | c0001 | t0001 | g0011 | EAS | KHV | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02080 | hp2 | a0001 | c0001 | t0002 | g0161 | EAS | KHV | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02145 | hp1 | a0001 | c0002 | t0005 | g0168 | AFR | ACB | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02145 | hp2 | a0001 | c0036 | t0026 | g0106 | AFR | ACB | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02155 | hp1 | a0001 | c0001 | t0021 | g0023 | EAS | CDX | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02155 | hp2 | a0001 | c0001 | t0004 | g0139 | EAS | CDX | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02257 | hp1 | a0001 | c0001 | t0012 | g0097 | AFR | ACB | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02257 | hp2 | a0001 | c0001 | t0002 | g0189 | AFR | ACB | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02258 | hp1 | a0001 | c0001 | t0001 | g0006 | AFR | ACB | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02258 | hp2 | a0001 | c0002 | t0005 | g0098 | AFR | ACB | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02280 | hp1 | a0001 | c0001 | t0017 | g0231 | AFR | ACB | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02280 | hp2 | a0001 | c0001 | t0012 | g0102 | AFR | ACB | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02293 | hp1 | a0001 | c0001 | t0007 | g0042 | AMR | PEL | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02293 | hp2 | a0001 | c0001 | t0001 | g0007 | AMR | PEL | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02451 | hp1 | a0001 | c0038 | t0010 | g0169 | AFR | ACB | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02451 | hp2 | a0001 | c0001 | t0040 | g0177 | AFR | ACB | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02523 | hp1 | a0001 | c0001 | t0001 | g0092 | EAS | KHV | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02523 | hp2 | a0001 | c0024 | t0004 | g0146 | EAS | KHV | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02572 | hp1 | a0001 | c0001 | t0007 | g0145 | AFR | GWD | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02572 | hp2 | a0001 | c0032 | t0028 | g0174 | AFR | GWD | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0149 | SAS | PJL | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02602 | hp2 | a0001 | c0021 | t0012 | g0031 | SAS | PJL | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02735 | hp1 | a0001 | c0001 | t0032 | g0016 | SAS | PJL | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02735 | hp2 | a0010 | c0017 | t0005 | g0113 | SAS | PJL | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02738 | hp1 | a0001 | c0001 | t0001 | g0028 | SAS | PJL | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02738 | hp2 | a0004 | c0029 | t0008 | g0150 | SAS | PJL | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02818 | hp1 | a0001 | c0002 | t0006 | g0235 | AFR | GWD | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02818 | hp2 | a0001 | c0003 | t0004 | g0172 | AFR | GWD | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02886 | hp1 | a0001 | c0001 | t0016 | g0105 | AFR | GWD | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02886 | hp2 | a0001 | c0002 | t0006 | g0109 | AFR | GWD | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02896 | hp1 | a0002 | c0009 | t0013 | g0104 | AFR | GWD | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02896 | hp2 | a0001 | c0002 | t0006 | g0234 | AFR | GWD | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02897 | hp1 | a0001 | c0003 | t0004 | g0186 | AFR | GWD | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02897 | hp2 | a0002 | c0009 | t0013 | g0103 | AFR | GWD | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02922 | hp1 | a0001 | c0002 | t0005 | g0165 | AFR | ESN | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02922 | hp2 | a0001 | c0001 | t0009 | g0226 | AFR | ESN | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02970 | hp1 | a0001 | c0019 | t0010 | g0043 | AFR | ESN | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02970 | hp2 | a0001 | c0001 | t0014 | g0233 | AFR | ESN | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG03041 | hp1 | a0001 | c0007 | t0005 | g0099 | AFR | GWD | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG03041 | hp2 | a0001 | c0008 | t0010 | g0236 | AFR | GWD | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG03098 | hp1 | a0001 | c0002 | t0005 | g0101 | AFR | MSL | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG03098 | hp2 | a0001 | c0001 | t0017 | g0192 | AFR | MSL | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG03130 | hp1 | a0001 | c0003 | t0004 | g0108 | AFR | ESN | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG03130 | hp2 | a0003 | c0035 | t0038 | g0219 | AFR | ESN | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG03139 | hp1 | a0001 | c0003 | t0004 | g0171 | AFR | ESN | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG03139 | hp2 | a0001 | c0002 | t0005 | g0183 | AFR | ESN | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG03195 | hp1 | a0001 | c0001 | t0009 | g0228 | AFR | ESN | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG03195 | hp2 | a0001 | c0002 | t0006 | g0218 | AFR | ESN | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG03209 | hp1 | a0001 | c0002 | t0006 | g0230 | AFR | MSL | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG03209 | hp2 | a0015 | c0015 | t0010 | g0222 | AFR | MSL | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG03225 | hp1 | a0001 | c0002 | t0006 | g0114 | AFR | MSL | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG03225 | hp2 | a0001 | c0001 | t0009 | g0227 | AFR | MSL | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG03453 | hp1 | a0001 | c0002 | t0005 | g0162 | AFR | MSL | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG03453 | hp2 | a0001 | c0001 | t0009 | g0229 | AFR | MSL | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG03490 | hp1 | a0001 | c0002 | t0020 | g0084 | SAS | PJL | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG03490 | hp2 | a0001 | c0001 | t0004 | g0135 | SAS | PJL | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG03491 | hp1 | a0001 | c0018 | t0005 | g0184 | SAS | PJL | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG03491 | hp2 | a0001 | c0001 | t0001 | g0076 | SAS | PJL | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG03492 | hp1 | a0001 | c0001 | t0001 | g0014 | SAS | PJL | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG03492 | hp2 | a0001 | c0002 | t0020 | g0085 | SAS | PJL | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG03540 | hp1 | a0001 | c0001 | t0007 | g0147 | AFR | GWD | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG03540 | hp2 | a0001 | c0003 | t0030 | g0173 | AFR | GWD | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG03669 | hp1 | a0001 | c0001 | t0002 | g0131 | SAS | PJL | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG03669 | hp2 | a0001 | c0006 | t0016 | g0120 | SAS | PJL | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG03688 | hp1 | a0018 | c0014 | t0003 | g0017 | SAS | STU | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG03688 | hp2 | a0014 | c0030 | t0016 | g0033 | SAS | STU | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG03710 | hp1 | a0001 | c0010 | t0011 | g0159 | SAS | PJL | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG03710 | hp2 | a0001 | c0001 | t0001 | g0024 | SAS | PJL | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG03831 | hp1 | a0001 | c0001 | t0013 | g0032 | SAS | BEB | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG03831 | hp2 | a0001 | c0001 | t0001 | g0004 | SAS | BEB | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG03927 | hp1 | a0001 | c0001 | t0001 | g0232 | SAS | BEB | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG03927 | hp2 | a0001 | c0001 | t0048 | g0044 | SAS | BEB | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG03942 | hp1 | a0001 | c0005 | t0002 | g0210 | SAS | BEB | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG03942 | hp2 | a0001 | c0001 | t0013 | g0100 | SAS | BEB | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG04199 | hp1 | a0001 | c0001 | t0044 | g0001 | SAS | STU | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG04199 | hp2 | a0001 | c0001 | t0007 | g0002 | SAS | STU | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA18522 | hp1 | a0006 | c0037 | t0036 | g0214 | AFR | YRI | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA18522 | hp2 | a0001 | c0001 | t0018 | g0197 | AFR | YRI | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA18612 | hp1 | a0016 | c0031 | t0003 | g0018 | EAS | CHB | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA18612 | hp2 | a0001 | c0001 | t0019 | g0191 | EAS | CHB | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA18747 | hp1 | a0001 | c0004 | t0002 | g0178 | EAS | CHB | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA18747 | hp2 | a0001 | c0001 | t0003 | g0087 | EAS | CHB | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA18943 | hp1 | a0001 | c0001 | t0001 | g0061 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA18943 | hp2 | a0001 | c0001 | t0003 | g0081 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA18950 | hp1 | a0001 | c0002 | t0006 | g0073 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA18950 | hp2 | a0001 | c0001 | t0001 | g0071 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA18952 | hp1 | a0001 | c0001 | t0003 | g0089 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA18952 | hp2 | a0001 | c0001 | t0042 | g0055 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA18954 | hp1 | a0001 | c0001 | t0002 | g0119 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA18954 | hp2 | a0001 | c0001 | t0031 | g0140 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA18957 | hp1 | a0001 | c0001 | t0003 | g0080 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA18957 | hp2 | a0001 | c0001 | t0008 | g0124 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA18962 | hp1 | a0001 | c0001 | t0001 | g0048 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA18962 | hp2 | a0001 | c0001 | t0045 | g0128 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA18965 | hp1 | a0001 | c0001 | t0003 | g0078 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA18965 | hp2 | a0001 | c0002 | t0006 | g0013 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA18969 | hp1 | a0001 | c0001 | t0008 | g0034 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA18969 | hp2 | a0001 | c0001 | t0007 | g0208 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA18970 | hp1 | a0001 | c0001 | t0004 | g0217 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA18970 | hp2 | a0001 | c0001 | t0021 | g0094 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA18980 | hp1 | a0001 | c0001 | t0008 | g0068 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA18980 | hp2 | a0011 | c0026 | t0007 | g0041 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA18983 | hp1 | a0001 | c0001 | t0004 | g0133 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA18983 | hp2 | a0001 | c0001 | t0003 | g0021 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA18984 | hp1 | a0001 | c0001 | t0007 | g0141 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA18984 | hp2 | a0001 | c0001 | t0001 | g0072 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA18985 | hp1 | a0019 | c0013 | t0001 | g0012 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA18985 | hp2 | a0001 | c0001 | t0043 | g0039 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA18986 | hp1 | a0001 | c0001 | t0004 | g0127 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA18986 | hp2 | a0001 | c0001 | t0004 | g0064 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA18987 | hp1 | a0001 | c0002 | t0006 | g0026 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA18987 | hp2 | a0009 | c0023 | t0001 | g0009 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA18990 | hp1 | a0001 | c0001 | t0002 | g0202 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA18990 | hp2 | a0001 | c0001 | t0001 | g0067 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA18993 | hp1 | a0001 | c0001 | t0001 | g0069 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA18993 | hp2 | a0001 | c0001 | t0011 | g0083 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA18998 | hp1 | a0001 | c0001 | t0003 | g0022 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA18998 | hp2 | a0001 | c0002 | t0029 | g0088 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA19000 | hp1 | a0001 | c0001 | t0002 | g0115 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA19000 | hp2 | a0001 | c0001 | t0003 | g0020 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA19002 | hp1 | a0001 | c0001 | t0003 | g0050 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA19002 | hp2 | a0001 | c0004 | t0002 | g0175 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA19004 | hp1 | a0001 | c0001 | t0002 | g0118 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA19004 | hp2 | a0012 | c0022 | t0008 | g0063 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA19009 | hp1 | a0001 | c0001 | t0003 | g0086 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA19009 | hp2 | a0001 | c0001 | t0004 | g0040 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA19010 | hp1 | a0001 | c0001 | t0003 | g0082 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA19010 | hp2 | a0001 | c0001 | t0047 | g0065 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA19030 | hp1 | a0001 | c0006 | t0006 | g0096 | AFR | LWK | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA19030 | hp2 | a0001 | c0001 | t0023 | g0213 | AFR | LWK | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA19043 | hp1 | a0001 | c0007 | t0035 | g0160 | AFR | LWK | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA19043 | hp2 | a0001 | c0001 | t0007 | g0223 | AFR | LWK | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA19054 | hp1 | a0001 | c0001 | t0002 | g0179 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA19054 | hp2 | a0001 | c0001 | t0001 | g0025 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA19056 | hp1 | a0001 | c0001 | t0003 | g0095 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA19056 | hp2 | a0001 | c0001 | t0004 | g0216 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA19057 | hp1 | a0001 | c0001 | t0001 | g0054 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA19057 | hp2 | a0001 | c0001 | t0034 | g0126 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA19060 | hp1 | a0001 | c0001 | t0002 | g0207 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA19060 | hp2 | a0001 | c0001 | t0008 | g0066 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA19062 | hp1 | a0001 | c0001 | t0003 | g0027 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA19062 | hp2 | a0001 | c0002 | t0006 | g0156 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA19063 | hp1 | a0001 | c0001 | t0033 | g0008 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA19063 | hp2 | a0001 | c0001 | t0003 | g0019 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA19066 | hp1 | a0001 | c0001 | t0008 | g0037 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA19066 | hp2 | a0001 | c0001 | t0001 | g0157 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA19070 | hp1 | a0001 | c0001 | t0001 | g0154 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA19070 | hp2 | a0001 | c0001 | t0004 | g0129 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA19072 | hp1 | a0001 | c0001 | t0015 | g0035 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA19072 | hp2 | a0001 | c0001 | t0002 | g0117 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA19077 | hp1 | a0001 | c0001 | t0011 | g0077 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA19077 | hp2 | a0001 | c0001 | t0046 | g0138 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA19079 | hp1 | a0001 | c0001 | t0008 | g0038 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA19079 | hp2 | a0001 | c0001 | t0002 | g0200 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA19087 | hp1 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA19087 | hp2 | a0001 | c0001 | t0041 | g0132 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA19088 | hp1 | a0005 | c0020 | t0004 | g0136 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA19088 | hp2 | a0001 | c0001 | t0001 | g0062 | EAS | JPT | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA20129 | hp1 | a0001 | c0001 | t0004 | g0045 | AFR | ASW | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA20129 | hp2 | a0001 | c0001 | t0002 | g0206 | AFR | ASW | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA20752 | hp1 | a0001 | c0001 | t0015 | g0130 | EUR | TSI | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA20752 | hp2 | a0001 | c0001 | t0001 | g0151 | EUR | TSI | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA20805 | hp1 | a0001 | c0001 | t0003 | g0046 | EUR | TSI | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA20805 | hp2 | a0001 | c0001 | t0015 | g0137 | EUR | TSI | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02109 | hp1 | a0013 | c0012 | t0024 | g0187 | AFR | ACB | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02109 | hp2 | a0001 | c0001 | t0018 | g0194 | AFR | ACB | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02486 | hp1 | a0001 | c0005 | t0002 | g0193 | AFR | ACB | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02486 | hp2 | a0001 | c0002 | t0005 | g0167 | AFR | ACB | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02559 | hp1 | a0001 | c0002 | t0005 | g0166 | AFR | ACB | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG02559 | hp2 | a0001 | c0008 | t0014 | g0122 | AFR | ACB | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG06807 | hp1 | a0008 | c0028 | t0037 | g0170 | AFR | USA | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| HG06807 | hp2 | a0001 | c0002 | t0006 | g0091 | AFR | USA | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA20300 | hp1 | a0001 | c0027 | t0027 | g0185 | AFR | USA | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA20300 | hp2 | a0001 | c0001 | t0039 | g0220 | AFR | USA | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA21309 | hp1 | a0001 | c0002 | t0006 | g0070 | AFR | LWK | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| NA21309 | hp2 | a0001 | c0001 | t0002 | g0074 | AFR | LWK | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0001 | g0075 | REF | REF | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| homoSapiens_grch38 | hp1 | a0001 | c0001 | t0002 | g0180 | REF | REF | CHD7_chr8_60673740_60873028 | CHD7 | chr8 | 60673740 | 60873028 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr8:60741739
|
T | A | 1 | a0020 | 1 | HG00280.hp2 | missense_variant | MODERATE | c.307T>A | p.Ser103Thr | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/38 | 824/11606 | 307/8994 | 103/2997 | chr8 | 60741739 | ||
| chr8:60741987
|
C | A | 1 | a0019 | 1 | NA18985.hp1 | missense_variant | MODERATE | c.555C>A | p.His185Gln | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/38 | 1072/11606 | 555/8994 | 185/2997 | chr8 | 60741987 | ||
| chr8:60742126
|
C | A | 1 | a0018 | 1 | HG03688.hp1 | missense_variant | MODERATE | c.694C>A | p.Pro232Thr | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/38 | 1211/11606 | 694/8994 | 232/2997 | chr8 | 60742126 | ||
| chr8:60742288
|
A | G | 1 | a0003 | 1 | HG03130.hp2 | missense_variant | MODERATE | c.856A>G | p.Arg286Gly | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/38 | 1373/11606 | 856/8994 | 286/2997 | chr8 | 60742288 | ||
| chr8:60742450
|
A | G | 1 | a0017 | 1 | HG01175.hp2 | missense_variant | MODERATE | c.1018A>G | p.Met340Val | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/38 | 1535/11606 | 1018/8994 | 340/2997 | chr8 | 60742450 | ||
| chr8:60742997
|
G | T | 1 | a0016 | 1 | NA18612.hp1 | missense_variant | MODERATE | c.1565G>T | p.Gly522Val | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/38 | 2082/11606 | 1565/8994 | 522/2997 | chr8 | 60742997 | ||
| chr8:60781103
|
T | C | 1 | a0015 | 1 | HG03209.hp2 | missense_variant | MODERATE | c.1769T>C | p.Ile590Thr | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/38 | 2286/11606 | 1769/8994 | 590/2997 | chr8 | 60781103 | ||
| chr8:60781241
|
G | T | 1 | a0014 | 1 | HG03688.hp2 | missense_variant | MODERATE | c.1907G>T | p.Gly636Val | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/38 | 2424/11606 | 1907/8994 | 636/2997 | chr8 | 60781241 | ||
| chr8:60795119
|
G | A | 1 | a0013 | 1 | HG02109.hp1 | missense_variant | MODERATE | c.2230G>A | p.Gly744Ser | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/38 | 2747/11606 | 2230/8994 | 744/2997 | chr8 | 60795119 | ||
| chr8:60820073
|
A | G | 1 | a0004 | 1 | HG02738.hp2 | missense_variant | MODERATE | c.2680A>G | p.Thr894Ala | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 9/38 | 3197/11606 | 2680/8994 | 894/2997 | chr8 | 60820073 | ||
| chr8:60821923
|
G | A | 1 | a0005 | 1 | NA19088.hp1 | missense_variant | MODERATE | c.2831G>A | p.Arg944His | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 10/38 | 3348/11606 | 2831/8994 | 944/2997 | chr8 | 60821923 | ||
| chr8:60850528
|
G | A | 1 | a0012 | 1 | NA19004.hp2 | missense_variant | MODERATE | c.5440G>A | p.Ala1814Thr | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 26/38 | 5957/11606 | 5440/8994 | 1814/2997 | chr8 | 60850528 | ||
| chr8:60852915
|
A | G | 1 | a0011 | 1 | NA18980.hp2 | missense_variant | MODERATE | c.6190A>G | p.Ile2064Val | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 31/38 | 6707/11606 | 6190/8994 | 2064/2997 | chr8 | 60852915 | ||
| chr8:60853164
|
G | A | 1 | a0010 | 1 | HG02735.hp2 | missense_variant | MODERATE | c.6439G>A | p.Ala2147Thr | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 31/38 | 6956/11606 | 6439/8994 | 2147/2997 | chr8 | 60853164 | ||
| chr8:60853203
|
G | A | 1 | a0013 | 1 | HG02109.hp1 | missense_variant | MODERATE | c.6478G>A | p.Ala2160Thr | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 31/38 | 6995/11606 | 6478/8994 | 2160/2997 | chr8 | 60853203 | ||
| chr8:60856027
|
G | C | 1 | a0006 | 1 | NA18522.hp1 | missense_variant | MODERATE | c.6989G>C | p.Gly2330Ala | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 33/38 | 7506/11606 | 6989/8994 | 2330/2997 | chr8 | 60856027 | ||
| chr8:60856563
|
G | A | 1 | a0002 | 2 | HG02896.hp1 HG02897.hp2 |
missense_variant | MODERATE | c.7283G>A | p.Arg2428Gln | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/38 | 7800/11606 | 7283/8994 | 2428/2997 | chr8 | 60856563 | ||
| chr8:60865189
|
T | G | 1 | a0009 | 1 | NA18987.hp2 | missense_variant | MODERATE | c.8250T>G | p.Phe2750Leu | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 8767/11606 | 8250/8994 | 2750/2997 | chr8 | 60865189 | ||
| chr8:60865355
|
C | G | 1 | a0008 | 1 | HG06807.hp1 | missense_variant | MODERATE | c.8416C>G | p.Leu2806Val | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 8933/11606 | 8416/8994 | 2806/2997 | chr8 | 60865355 | ||
| chr8:60865611
|
A | G | 1 | a0007 | 1 | HG02004.hp2 | missense_variant | MODERATE | c.8672A>G | p.Asn2891Ser | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 9189/11606 | 8672/8994 | 2891/2997 | chr8 | 60865611 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr8:60741648
|
T | C | 1 | a0001c0004 | 3 | HG01192.hp2 NA18747.hp1 NA19002.hp2 |
synonymous_variant | LOW | c.216T>C | p.Tyr72Tyr | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/38 | 733/11606 | 216/8994 | 72/2997 | chr8 | 60741648 | ||
| chr8:60741741
|
G | A | 1 | a0013c0012 | 1 | HG02109.hp1 | synonymous_variant | LOW | c.309G>A | p.Ser103Ser | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/38 | 826/11606 | 309/8994 | 103/2997 | chr8 | 60741741 | ||
| chr8:60742089
|
C | T | 4 | a0001c0036a0001c0038a0006c0037others(1): Show | 4 | HG02109.hp1 HG02145.hp2 HG02451.hp1 others(1): Show |
synonymous_variant | LOW | c.657C>T | p.Gly219Gly | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/38 | 1174/11606 | 657/8994 | 219/2997 | chr8 | 60742089 | ||
| chr8:60742470
|
A | G | 1 | a0001c0033 | 1 | HG01928.hp2 | synonymous_variant | LOW | c.1038A>G | p.Arg346Arg | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/38 | 1555/11606 | 1038/8994 | 346/2997 | chr8 | 60742470 | ||
| chr8:60742635
|
A | G | 1 | a0019c0013 | 1 | NA18985.hp1 | synonymous_variant | LOW | c.1203A>G | p.Ala401Ala | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/38 | 1720/11606 | 1203/8994 | 401/2997 | chr8 | 60742635 | ||
| chr8:60742968
|
A | G | 1 | a0001c0032 | 1 | HG02572.hp2 | synonymous_variant | LOW | c.1536A>G | p.Pro512Pro | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/38 | 2053/11606 | 1536/8994 | 512/2997 | chr8 | 60742968 | ||
| chr8:60781401
|
G | A | 1 | a0001c0016 | 1 | HG00735.hp2 | synonymous_variant | LOW | c.2067G>A | p.Thr689Thr | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/38 | 2584/11606 | 2067/8994 | 689/2997 | chr8 | 60781401 | ||
| chr8:60795013
|
T | C | 9 | a0001c0006a0001c0018a0001c0019others(6): Show | 10 | HG02109.hp1 HG02145.hp2 HG02451.hp1 others(7): Show |
synonymous_variant | LOW | c.2124T>C | p.Ser708Ser | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/38 | 2641/11606 | 2124/8994 | 708/2997 | chr8 | 60795013 | ||
| chr8:60828683
|
G | A | 1 | a0001c0021 | 1 | HG02602.hp2 | synonymous_variant | LOW | c.3399G>A | p.Thr1133Thr | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 14/38 | 3916/11606 | 3399/8994 | 1133/2997 | chr8 | 60828683 | ||
| chr8:60849057
|
C | T | 3 | a0001c0003a0008c0028a0013c0012 | 8 | HG02055.hp1 HG02109.hp1 HG02818.hp2 others(5): Show |
synonymous_variant | LOW | c.5307C>T | p.Ala1769Ala | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 25/38 | 5824/11606 | 5307/8994 | 1769/2997 | chr8 | 60849057 | ||
| chr8:60852107
|
T | C | 1 | a0001c0036 | 1 | HG02145.hp2 | synonymous_variant | LOW | c.5754T>C | p.Thr1918Thr | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 29/38 | 6271/11606 | 5754/8994 | 1918/2997 | chr8 | 60852107 | ||
| chr8:60852110
|
C | G | 1 | a0001c0027 | 1 | NA20300.hp1 | synonymous_variant | LOW | c.5757C>G | p.Ala1919Ala | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 29/38 | 6274/11606 | 5757/8994 | 1919/2997 | chr8 | 60852110 | ||
| chr8:60852860
|
G | A | 1 | a0001c0005 | 3 | HG00099.hp2 HG02486.hp1 HG03942.hp1 |
synonymous_variant | LOW | c.6135G>A | p.Pro2045Pro | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 31/38 | 6652/11606 | 6135/8994 | 2045/2997 | chr8 | 60852860 | ||
| chr8:60853001
|
G | A | 5 | a0001c0002a0001c0016a0001c0018others(2): Show | 31 | HG00099.hp1 HG00735.hp2 HG01109.hp2 others(28): Show |
synonymous_variant | LOW | c.6276G>A | p.Glu2092Glu | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 31/38 | 6793/11606 | 6276/8994 | 2092/2997 | chr8 | 60853001 | ||
| chr8:60853463
|
G | A | 1 | a0001c0007 | 2 | HG03041.hp1 NA19043.hp1 |
synonymous_variant | LOW | c.6738G>A | p.Glu2246Glu | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 31/38 | 7255/11606 | 6738/8994 | 2246/2997 | chr8 | 60853463 | ||
| chr8:60854511
|
G | A | 1 | a0001c0036 | 1 | HG02145.hp2 | synonymous_variant | LOW | c.6924G>A | p.Ser2308Ser | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 32/38 | 7441/11606 | 6924/8994 | 2308/2997 | chr8 | 60854511 | ||
| chr8:60856028
|
C | T | 1 | a0006c0037 | 1 | NA18522.hp1 | synonymous_variant | LOW | c.6990C>T | p.Gly2330Gly | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 33/38 | 7507/11606 | 6990/8994 | 2330/2997 | chr8 | 60856028 | ||
| chr8:60856489
|
G | A | 3 | a0001c0008a0001c0019a0001c0038 | 4 | HG02451.hp1 HG02559.hp2 HG02970.hp1 others(1): Show |
synonymous_variant | LOW | c.7209G>A | p.Arg2403Arg | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/38 | 7726/11606 | 7209/8994 | 2403/2997 | chr8 | 60856489 | ||
| chr8:60856636
|
A | G | 2 | a0001c0010a0008c0028 | 3 | HG00741.hp1 HG03710.hp1 HG06807.hp1 |
synonymous_variant | LOW | c.7356A>G | p.Thr2452Thr | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/38 | 7873/11606 | 7356/8994 | 2452/2997 | chr8 | 60856636 | ||
| chr8:60856870
|
A | G | 1 | a0013c0012 | 1 | HG02109.hp1 | synonymous_variant | LOW | c.7590A>G | p.Lys2530Lys | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/38 | 8107/11606 | 7590/8994 | 2530/2997 | chr8 | 60856870 | ||
| chr8:60865729
|
C | T | 1 | a0003c0035 | 1 | HG03130.hp2 | synonymous_variant | LOW | c.8790C>T | p.Ala2930Ala | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 9307/11606 | 8790/8994 | 2930/2997 | chr8 | 60865729 | ||
| chr8:60865807
|
C | T | 1 | a0001c0024 | 1 | HG02523.hp2 | synonymous_variant | LOW | c.8868C>T | p.Ser2956Ser | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 9385/11606 | 8868/8994 | 2956/2997 | chr8 | 60865807 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr8:60678744
|
A | G | 15 | a0001c0001t0012a0001c0001t0013a0001c0001t0016others(12): Show | 28 | HG00099.hp1 HG00735.hp2 HG01069.hp1 others(25): Show |
5_prime_UTR_variant | MODIFIER | c.-513A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/38 | 62689 | chr8 | 60678744 | |||||
| chr8:60678764
|
C | CGCG | 38 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(35): Show | 132 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(129): Show |
5_prime_UTR_variant | MODIFIER | c.-469_-467dupGGC | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/38 | 62642 | INFO_REALIGN_3_PRIME | chr8 | 60678764 | ||||
| chr8:60678764
|
C | CGCGGCG | 16 | a0001c0001t0004a0001c0001t0008a0001c0001t0014others(13): Show | 38 | HG00741.hp2 HG01175.hp1 HG01243.hp1 others(35): Show |
5_prime_UTR_variant | MODIFIER | c.-472_-467dupGGCGGC | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/38 | 62642 | INFO_REALIGN_3_PRIME | chr8 | 60678764 | ||||
| chr8:60678764
|
C | CGCGGCGG others(2): Show |
5 | a0001c0001t0015a0001c0001t0032a0001c0001t0040others(2): Show | 7 | HG02451.hp2 HG02735.hp1 NA18952.hp2 others(4): Show |
5_prime_UTR_variant | MODIFIER | c.-475_-467dupGGCGGC others(3): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/38 | 62642 | INFO_REALIGN_3_PRIME | chr8 | 60678764 | ||||
| chr8:60678764
|
C | CGCGGCGG others(5): Show |
2 | a0001c0001t0034a0001c0002t0051 | 2 | HG01192.hp1 NA19057.hp2 |
5_prime_UTR_variant | MODIFIER | c.-478_-467dupGGCGGC others(6): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/38 | 62642 | INFO_REALIGN_3_PRIME | chr8 | 60678764 | ||||
| chr8:60678764
|
C | CGCGGCGG others(11): Show |
3 | a0001c0001t0043a0001c0001t0044a0001c0007t0035 | 3 | HG04199.hp1 NA18985.hp2 NA19043.hp1 |
5_prime_UTR_variant | MODIFIER | c.-484_-467dupGGCGGC others(12): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/38 | 62642 | INFO_REALIGN_3_PRIME | chr8 | 60678764 | ||||
| chr8:60678764
|
C | CGCGGCGG others(20): Show |
2 | a0001c0001t0045a0001c0001t0046 | 2 | NA18962.hp2 NA19077.hp2 |
5_prime_UTR_variant | MODIFIER | c.-467_-466insGGCGGC others(21): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/38 | 62642 | INFO_REALIGN_3_PRIME | chr8 | 60678764 | ||||
| chr8:60678764
|
C | CGCGGCGG others(23): Show |
1 | a0001c0001t0047 | 1 | NA19010.hp2 | 5_prime_UTR_variant | MODIFIER | c.-467_-466insGGCGGC others(24): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/38 | 62642 | INFO_REALIGN_3_PRIME | chr8 | 60678764 | ||||
| chr8:60678764
|
C | CGCGGCGG others(35): Show |
1 | a0001c0001t0048 | 1 | HG03927.hp2 | 5_prime_UTR_variant | MODIFIER | c.-467_-466insGGCGGC others(36): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/38 | 62642 | INFO_REALIGN_3_PRIME | chr8 | 60678764 | ||||
| chr8:60678770
|
G | GGCGGCGG others(29): Show |
1 | a0001c0001t0022 | 1 | HG00642.hp1 | 5_prime_UTR_variant | MODIFIER | c.-473_-472insAGCGGC others(30): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/38 | 62648 | INFO_REALIGN_3_PRIME | chr8 | 60678770 | ||||
| chr8:60678770
|
G | GGCGGCGG others(38): Show |
1 | a0001c0002t0020 | 2 | HG03490.hp1 HG03492.hp2 |
5_prime_UTR_variant | MODIFIER | c.-467_-466insGGCAGC others(39): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/38 | 62642 | INFO_REALIGN_3_PRIME | chr8 | 60678770 | ||||
| chr8:60678773
|
G | GGCGGCGG others(14): Show |
1 | a0001c0001t0023 | 1 | NA19030.hp2 | 5_prime_UTR_variant | MODIFIER | c.-467_-466insGGCAGC others(15): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/38 | 62642 | INFO_REALIGN_3_PRIME | chr8 | 60678773 | ||||
| chr8:60678779
|
GGCGGCGG others(5): Show |
G | 1 | a0001c0001t0033 | 1 | NA19063.hp1 | 5_prime_UTR_variant | MODIFIER | c.-466_-455delAGCGGC others(6): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/38 | 62631 | INFO_REALIGN_3_PRIME | chr8 | 60678779 | ||||
| chr8:60678791
|
A | G | 14 | a0001c0001t0039a0001c0001t0040a0001c0001t0041others(11): Show | 14 | HG01192.hp1 HG02451.hp2 HG03130.hp2 others(11): Show |
5_prime_UTR_variant | MODIFIER | c.-466A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/38 | 62642 | chr8 | 60678791 | |||||
| chr8:60678818
|
G | A | 1 | a0001c0007t0035 | 1 | NA19043.hp1 | 5_prime_UTR_variant | MODIFIER | c.-439G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/38 | 62615 | chr8 | 60678818 | |||||
| chr8:60678877
|
C | T | 8 | a0001c0001t0003a0001c0001t0011a0001c0001t0021others(5): Show | 29 | HG00140.hp2 HG00558.hp2 HG00673.hp1 others(26): Show |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-380C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/38 | chr8 | 60678877 | ||||||
| chr8:60866050
|
CA | C | 13 | a0001c0002t0005a0001c0002t0006a0001c0002t0020others(10): Show | 34 | HG00099.hp1 HG00735.hp2 HG01109.hp2 others(31): Show |
3_prime_UTR_variant | MODIFIER | c.*127delA | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 127 | INFO_REALIGN_3_PRIME | chr8 | 60866050 | ||||
| chr8:60866146
|
A | G | 1 | a0001c0027t0027 | 1 | NA20300.hp1 | 3_prime_UTR_variant | MODIFIER | c.*213A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 213 | chr8 | 60866146 | |||||
| chr8:60866426
|
T | C | 1 | a0013c0012t0024 | 1 | HG02109.hp1 | 3_prime_UTR_variant | MODIFIER | c.*493T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 493 | chr8 | 60866426 | |||||
| chr8:60867056
|
G | A | 1 | a0006c0037t0036 | 1 | NA18522.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1123G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 1123 | chr8 | 60867056 | |||||
| chr8:60867122
|
A | C | 21 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(18): Show | 86 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(83): Show |
3_prime_UTR_variant | MODIFIER | c.*1189A>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 1189 | chr8 | 60867122 | |||||
| chr8:60867330
|
A | G | 1 | a0001c0001t0031 | 1 | NA18954.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1397A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 1397 | chr8 | 60867330 | |||||
| chr8:60867377
|
T | G | 20 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(17): Show | 85 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(82): Show |
3_prime_UTR_variant | MODIFIER | c.*1444T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 1444 | chr8 | 60867377 | |||||
| chr8:60867428
|
C | T | 1 | a0001c0032t0028 | 1 | HG02572.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1495C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 1495 | chr8 | 60867428 | |||||
| chr8:60867431
|
G | A | 2 | a0001c0001t0023a0001c0003t0030 | 2 | HG03540.hp2 NA19030.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1498G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 1498 | chr8 | 60867431 | |||||
| chr8:60867444
|
C | T | 1 | a0001c0002t0029 | 1 | NA18998.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1511C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 1511 | chr8 | 60867444 | |||||
| chr8:60867512
|
A | G | 4 | a0001c0001t0009a0001c0001t0012a0001c0001t0018others(1): Show | 12 | HG01069.hp1 HG01070.hp1 HG01071.hp1 others(9): Show |
3_prime_UTR_variant | MODIFIER | c.*1579A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 1579 | chr8 | 60867512 | |||||
| chr8:60867661
|
T | C | 51 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(48): Show | 147 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(144): Show |
3_prime_UTR_variant | MODIFIER | c.*1728T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 1728 | chr8 | 60867661 | |||||
| chr8:60867730
|
C | T | 20 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(17): Show | 85 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(82): Show |
3_prime_UTR_variant | MODIFIER | c.*1797C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 1797 | chr8 | 60867730 | |||||
| chr8:60867776
|
C | T | 1 | a0001c0001t0025 | 1 | HG01928.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1843C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 1843 | chr8 | 60867776 | |||||
| chr8:60867781
|
C | G | 1 | a0001c0001t0025 | 1 | HG01928.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1848C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 1848 | chr8 | 60867781 | |||||
| chr8:60867782
|
C | G | 1 | a0001c0001t0025 | 1 | HG01928.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1849C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 1849 | chr8 | 60867782 | |||||
| chr8:60867783
|
C | G | 1 | a0001c0001t0025 | 1 | HG01928.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1850C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 1850 | chr8 | 60867783 | |||||
| chr8:60867784
|
T | G | 1 | a0001c0001t0025 | 1 | HG01928.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1851T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 1851 | chr8 | 60867784 | |||||
| chr8:60867788
|
C | T | 1 | a0001c0001t0025 | 1 | HG01928.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1855C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 1855 | chr8 | 60867788 | |||||
| chr8:60867789
|
C | A | 1 | a0001c0001t0025 | 1 | HG01928.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1856C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 1856 | chr8 | 60867789 | |||||
| chr8:60867793
|
C | T | 1 | a0001c0001t0025 | 1 | HG01928.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1860C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 1860 | chr8 | 60867793 | |||||
| chr8:60867794
|
A | T | 1 | a0001c0001t0025 | 1 | HG01928.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1861A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 1861 | chr8 | 60867794 | |||||
| chr8:60867795
|
G | C | 1 | a0001c0001t0025 | 1 | HG01928.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1862G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 1862 | chr8 | 60867795 | |||||
| chr8:60867802
|
T | G | 1 | a0001c0001t0025 | 1 | HG01928.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1869T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 1869 | chr8 | 60867802 | |||||
| chr8:60867809
|
T | A | 1 | a0001c0001t0025 | 1 | HG01928.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1876T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 1876 | chr8 | 60867809 | |||||
| chr8:60867812
|
T | A | 1 | a0001c0001t0025 | 1 | HG01928.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1879T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 1879 | chr8 | 60867812 | |||||
| chr8:60867814
|
T | C | 1 | a0001c0001t0025 | 1 | HG01928.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1881T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 1881 | chr8 | 60867814 | |||||
| chr8:60867815
|
T | G | 1 | a0001c0001t0025 | 1 | HG01928.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1882T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 1882 | chr8 | 60867815 | |||||
| chr8:60867816
|
T | A | 1 | a0001c0001t0025 | 1 | HG01928.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1883T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 1883 | chr8 | 60867816 | |||||
| chr8:60867818
|
T | G | 1 | a0001c0001t0025 | 1 | HG01928.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1885T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 1885 | chr8 | 60867818 | |||||
| chr8:60867819
|
C | A | 1 | a0001c0001t0025 | 1 | HG01928.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1886C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 1886 | chr8 | 60867819 | |||||
| chr8:60867823
|
G | T | 1 | a0001c0001t0025 | 1 | HG01928.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1890G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 1890 | chr8 | 60867823 | |||||
| chr8:60867824
|
T | A | 1 | a0001c0001t0025 | 1 | HG01928.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1891T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 1891 | chr8 | 60867824 | |||||
| chr8:60867826
|
G | A | 1 | a0001c0001t0025 | 1 | HG01928.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1893G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 1893 | chr8 | 60867826 | |||||
| chr8:60867827
|
T | C | 1 | a0001c0001t0025 | 1 | HG01928.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1894T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 1894 | chr8 | 60867827 | |||||
| chr8:60867828
|
T | A | 1 | a0001c0001t0025 | 1 | HG01928.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1895T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 1895 | chr8 | 60867828 | |||||
| chr8:60867828
|
T | C | 1 | a0003c0035t0038 | 1 | HG03130.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1895T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 1895 | chr8 | 60867828 | |||||
| chr8:60867852
|
T | A | 1 | a0001c0001t0025 | 1 | HG01928.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1919T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 1919 | chr8 | 60867852 | |||||
| chr8:60867890
|
T | TTTGTATT others(336): Show |
1 | a0001c0027t0027 | 1 | NA20300.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1957_*1958insTTGT others(339): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 1958 | chr8 | 60867890 | |||||
| chr8:60867891
|
G | T | 1 | a0001c0027t0027 | 1 | NA20300.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1958G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 1958 | chr8 | 60867891 | |||||
| chr8:60867897
|
G | A | 1 | a0013c0012t0024 | 1 | HG02109.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1964G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 1964 | chr8 | 60867897 | |||||
| chr8:60867901
|
T | A | 1 | a0001c0027t0027 | 1 | NA20300.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1968T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 1968 | chr8 | 60867901 | |||||
| chr8:60867902
|
A | C | 1 | a0001c0027t0027 | 1 | NA20300.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1969A>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 1969 | chr8 | 60867902 | |||||
| chr8:60867903
|
T | A | 1 | a0001c0027t0027 | 1 | NA20300.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1970T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 38/38 | 1970 | chr8 | 60867903 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr8:60679204
|
C | CGGGGCGA | 3 | a0001c0002t0006g0234a0001c0002t0006g0235a0001c0008t0010g0236 | 3 | HG02818.hp1 HG02896.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.-175+140_-175+146d others(9): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60679204 | |||||
| chr8:60679291
|
C | T | 1 | a0001c0001t0014g0233 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.-175+209C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60679291 | ||||||
| chr8:60679417
|
C | G | 1 | a0001c0001t0001g0232 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.-175+335C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60679417 | ||||||
| chr8:60679438
|
T | TG | 104 | a0001c0001t0001g0048a0001c0001t0001g0049a0001c0001t0001g0051others(101): Show | 104 | HG00099.hp1 HG00280.hp1 HG00558.hp2 others(101): Show |
intron_variant | MODIFIER | c.-175+366dupG | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60679438 | |||||
| chr8:60679438
|
T | TGG | 46 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(43): Show | 46 | HG00558.hp1 HG01175.hp1 HG01175.hp2 others(43): Show |
intron_variant | MODIFIER | c.-175+365_-175+366d others(4): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60679438 | |||||
| chr8:60679623
|
GCGGCGGC others(13): Show |
G | 1 | a0001c0001t0007g0147 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-175+550_-175+569d others(22): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60679623 | |||||
| chr8:60679655
|
C | A | 3 | a0001c0001t0003g0046a0001c0001t0003g0047a0001c0001t0003g0148 | 3 | HG00140.hp2 HG01515.hp2 NA20805.hp1 |
intron_variant | MODIFIER | c.-175+573C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60679655 | ||||||
| chr8:60679674
|
C | T | 56 | a0001c0001t0002g0125a0001c0001t0002g0131a0001c0001t0004g0036others(53): Show | 56 | HG00642.hp1 HG00741.hp2 HG01070.hp1 others(53): Show |
intron_variant | MODIFIER | c.-175+592C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60679674 | ||||||
| chr8:60679675
|
C | T | 1 | a0001c0001t0004g0045 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.-175+593C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60679675 | ||||||
| chr8:60679781
|
C | T | 1 | a0001c0001t0001g0123 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.-175+699C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60679781 | ||||||
| chr8:60679866
|
G | A | 92 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(89): Show | 92 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(89): Show |
intron_variant | MODIFIER | c.-175+784G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60679866 | ||||||
| chr8:60679872
|
A | G | 1 | a0001c0001t0001g0232 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.-175+790A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60679872 | ||||||
| chr8:60679956
|
C | A | 3 | a0001c0002t0006g0234a0001c0002t0006g0235a0001c0008t0010g0236 | 3 | HG02818.hp1 HG02896.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.-175+874C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60679956 | ||||||
| chr8:60680039
|
G | C | 1 | a0001c0007t0035g0160 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-175+957G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60680039 | ||||||
| chr8:60680171
|
G | C | 3 | a0001c0001t0002g0125a0001c0001t0008g0034a0001c0001t0008g0124 | 3 | HG01975.hp1 NA18957.hp2 NA18969.hp1 |
intron_variant | MODIFIER | c.-175+1089G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60680171 | ||||||
| chr8:60680194
|
C | A | 1 | a0001c0001t0002g0161 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.-175+1112C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60680194 | ||||||
| chr8:60680232
|
C | T | 1 | a0001c0005t0002g0215 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.-175+1150C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60680232 | ||||||
| chr8:60680398
|
C | CG | 47 | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0028others(44): Show | 47 | HG00099.hp2 HG00280.hp2 HG00438.hp1 others(44): Show |
intron_variant | MODIFIER | c.-175+1328dupG | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60680398 | |||||
| chr8:60680398
|
CG | C | 28 | a0001c0001t0001g0048a0001c0001t0001g0049a0001c0001t0002g0125others(25): Show | 28 | HG01109.hp2 HG01169.hp1 HG01192.hp1 others(25): Show |
intron_variant | MODIFIER | c.-175+1328delG | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60680398 | |||||
| chr8:60680403
|
G | A | 1 | a0001c0006t0006g0096 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-175+1321G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60680403 | ||||||
| chr8:60680404
|
G | T | 1 | a0006c0037t0036g0214 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.-175+1322G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60680404 | ||||||
| chr8:60680408
|
G | GCGGGGGC | 4 | a0001c0001t0004g0045a0001c0001t0004g0127a0001c0001t0034g0126others(1): Show | 4 | NA18962.hp2 NA18986.hp1 NA19057.hp2 others(1): Show |
intron_variant | MODIFIER | c.-175+1326_-175+132 others(11): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60680408 | ||||||
| chr8:60680408
|
G | GGC | 25 | a0001c0001t0007g0042a0001c0001t0007g0141a0001c0001t0007g0143others(22): Show | 25 | HG00642.hp1 HG00741.hp2 HG01070.hp1 others(22): Show |
intron_variant | MODIFIER | c.-175+1327_-175+132 others(6): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60680408 | |||||
| chr8:60680408
|
G | GGCGGGGG others(1): Show |
22 | a0001c0001t0002g0131a0001c0001t0004g0036a0001c0001t0004g0040others(19): Show | 22 | HG01175.hp1 HG01255.hp1 HG02155.hp2 others(19): Show |
intron_variant | MODIFIER | c.-175+1327_-175+132 others(12): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60680408 | |||||
| chr8:60680411
|
C | G | 26 | a0001c0001t0007g0042a0001c0001t0007g0141a0001c0001t0007g0143others(23): Show | 26 | HG00642.hp1 HG00741.hp2 HG01070.hp1 others(23): Show |
intron_variant | MODIFIER | c.-175+1329C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60680411 | ||||||
| chr8:60680414
|
G | C | 59 | a0001c0001t0002g0131a0001c0001t0004g0036a0001c0001t0004g0040others(56): Show | 59 | HG00642.hp1 HG00741.hp2 HG01070.hp1 others(56): Show |
intron_variant | MODIFIER | c.-175+1332G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60680414 | ||||||
| chr8:60681010
|
C | T | 59 | a0001c0001t0002g0125a0001c0001t0002g0131a0001c0001t0004g0036others(56): Show | 59 | HG00642.hp1 HG00741.hp2 HG01070.hp1 others(56): Show |
intron_variant | MODIFIER | c.-175+1928C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60681010 | ||||||
| chr8:60681044
|
T | G | 1 | a0001c0001t0044g0001 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.-175+1962T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60681044 | ||||||
| chr8:60681730
|
C | T | 1 | a0001c0001t0001g0092 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.-175+2648C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60681730 | ||||||
| chr8:60681884
|
TAAG | T | 3 | a0001c0002t0006g0109a0001c0002t0006g0114a0001c0032t0028g0174 | 3 | HG02572.hp2 HG02886.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.-175+2805_-175+280 others(7): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60681884 | |||||
| chr8:60681910
|
A | G | 16 | a0001c0001t0023g0213a0001c0002t0006g0109a0001c0002t0006g0114others(13): Show | 16 | HG02055.hp1 HG02559.hp2 HG02572.hp2 others(13): Show |
intron_variant | MODIFIER | c.-175+2828A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60681910 | ||||||
| chr8:60682454
|
C | T | 1 | a0001c0001t0001g0123 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.-175+3372C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60682454 | ||||||
| chr8:60682462
|
C | G | 1 | a0001c0001t0031g0140 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.-175+3380C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60682462 | ||||||
| chr8:60682493
|
G | A | 3 | a0001c0001t0023g0213a0001c0027t0027g0185a0006c0037t0036g0214 | 3 | NA18522.hp1 NA19030.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.-175+3411G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60682493 | ||||||
| chr8:60682619
|
T | A | 1 | a0001c0007t0035g0160 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-175+3537T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60682619 | ||||||
| chr8:60683047
|
A | G | 32 | a0001c0001t0012g0097a0001c0001t0012g0102a0001c0001t0012g0112others(29): Show | 32 | HG00099.hp1 HG00735.hp2 HG01069.hp1 others(29): Show |
intron_variant | MODIFIER | c.-175+3965A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60683047 | ||||||
| chr8:60683112
|
T | C | 90 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(87): Show | 90 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(87): Show |
intron_variant | MODIFIER | c.-175+4030T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60683112 | ||||||
| chr8:60683194
|
C | T | 1 | a0001c0001t0016g0105 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.-175+4112C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60683194 | ||||||
| chr8:60683226
|
A | T | 2 | a0001c0001t0002g0182a0001c0001t0002g0212 | 2 | HG00140.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.-175+4144A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60683226 | ||||||
| chr8:60683232
|
A | G | 1 | a0001c0008t0014g0122 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.-175+4150A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60683232 | ||||||
| chr8:60683909
|
G | GT | 102 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(99): Show | 102 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(99): Show |
intron_variant | MODIFIER | c.-175+4839dupT | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60683909 | |||||
| chr8:60683988
|
T | A | 1 | a0001c0019t0010g0043 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-175+4906T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60683988 | ||||||
| chr8:60684074
|
T | C | 1 | a0001c0001t0007g0223 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-175+4992T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60684074 | ||||||
| chr8:60684093
|
G | T | 29 | a0001c0001t0003g0019a0001c0001t0003g0020a0001c0001t0003g0021others(26): Show | 29 | HG00140.hp2 HG00558.hp2 HG00673.hp1 others(26): Show |
intron_variant | MODIFIER | c.-175+5011G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60684093 | ||||||
| chr8:60684253
|
T | G | 1 | a0001c0001t0012g0097 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.-175+5171T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60684253 | ||||||
| chr8:60684278
|
G | C | 1 | a0001c0001t0002g0188 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.-175+5196G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60684278 | ||||||
| chr8:60684400
|
A | G | 1 | a0001c0001t0032g0016 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.-175+5318A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60684400 | ||||||
| chr8:60684405
|
A | G | 1 | a0017c0034t0007g0015 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.-175+5323A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60684405 | ||||||
| chr8:60684427
|
A | C | 1 | a0001c0001t0002g0125 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.-175+5345A>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60684427 | ||||||
| chr8:60684492
|
G | T | 1 | a0001c0001t0011g0090 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.-175+5410G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60684492 | ||||||
| chr8:60684652
|
G | T | 1 | a0001c0027t0027g0185 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-175+5570G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60684652 | ||||||
| chr8:60684689
|
G | C | 3 | a0001c0002t0006g0109a0001c0002t0006g0114a0001c0032t0028g0174 | 3 | HG02572.hp2 HG02886.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.-175+5607G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60684689 | ||||||
| chr8:60684819
|
T | C | 1 | a0001c0001t0002g0189 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.-175+5737T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60684819 | ||||||
| chr8:60684842
|
G | T | 5 | a0001c0001t0014g0221a0001c0001t0014g0233a0001c0001t0017g0231others(2): Show | 5 | HG00741.hp2 HG02280.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.-175+5760G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60684842 | ||||||
| chr8:60684888
|
G | A | 28 | a0001c0001t0012g0097a0001c0001t0012g0102a0001c0001t0012g0112others(25): Show | 28 | HG00099.hp1 HG00735.hp2 HG01069.hp1 others(25): Show |
intron_variant | MODIFIER | c.-175+5806G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60684888 | ||||||
| chr8:60685130
|
C | G | 40 | a0001c0001t0001g0028a0001c0001t0002g0125a0001c0001t0002g0131others(37): Show | 40 | HG00642.hp1 HG01081.hp2 HG01175.hp1 others(37): Show |
intron_variant | MODIFIER | c.-175+6048C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60685130 | ||||||
| chr8:60685250
|
A | G | 195 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(192): Show | 195 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(192): Show |
intron_variant | MODIFIER | c.-175+6168A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60685250 | ||||||
| chr8:60685311
|
G | T | 5 | a0001c0001t0014g0221a0001c0001t0014g0233a0001c0001t0017g0231others(2): Show | 5 | HG00741.hp2 HG02280.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.-175+6229G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60685311 | ||||||
| chr8:60685367
|
A | T | 1 | a0001c0005t0002g0215 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.-175+6285A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60685367 | ||||||
| chr8:60685448
|
G | C | 195 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(192): Show | 195 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(192): Show |
intron_variant | MODIFIER | c.-175+6366G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60685448 | ||||||
| chr8:60685774
|
C | T | 4 | a0001c0001t0001g0014a0001c0001t0001g0049a0001c0001t0001g0075others(1): Show | 4 | HG01169.hp1 HG03491.hp2 HG03492.hp1 others(1): Show |
intron_variant | MODIFIER | c.-175+6692C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60685774 | ||||||
| chr8:60685995
|
A | T | 90 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(87): Show | 90 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(87): Show |
intron_variant | MODIFIER | c.-175+6913A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60685995 | ||||||
| chr8:60686314
|
T | A | 1 | a0001c0002t0006g0218 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.-175+7232T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60686314 | ||||||
| chr8:60686348
|
T | TA | 5 | a0001c0001t0002g0115a0001c0001t0002g0116a0001c0001t0002g0190others(2): Show | 5 | HG00438.hp1 HG00673.hp2 HG03098.hp2 others(2): Show |
intron_variant | MODIFIER | c.-175+7284dupA | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60686348 | |||||
| chr8:60686348
|
TAAA | T | 30 | a0001c0001t0012g0097a0001c0001t0012g0102a0001c0001t0012g0112others(27): Show | 30 | HG00099.hp1 HG00735.hp2 HG01069.hp1 others(27): Show |
intron_variant | MODIFIER | c.-175+7282_-175+728 others(7): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60686348 | |||||
| chr8:60686348
|
TAAAA | T | 19 | a0001c0001t0009g0224a0001c0001t0009g0225a0001c0002t0006g0109others(16): Show | 19 | HG01070.hp1 HG01071.hp1 HG02055.hp1 others(16): Show |
intron_variant | MODIFIER | c.-175+7281_-175+728 others(8): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60686348 | |||||
| chr8:60686348
|
TAAAAA | T | 143 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(140): Show | 143 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(140): Show |
intron_variant | MODIFIER | c.-175+7280_-175+728 others(9): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60686348 | |||||
| chr8:60686375
|
A | G | 1 | a0001c0001t0001g0157 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.-175+7293A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60686375 | ||||||
| chr8:60686563
|
A | G | 90 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(87): Show | 90 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(87): Show |
intron_variant | MODIFIER | c.-175+7481A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60686563 | ||||||
| chr8:60686765
|
ACAGT | A | 2 | a0001c0001t0014g0221a0001c0001t0039g0220 | 2 | HG00741.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.-175+7687_-175+769 others(8): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60686765 | |||||
| chr8:60686813
|
A | C | 1 | a0001c0001t0002g0161 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.-175+7731A>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60686813 | ||||||
| chr8:60686973
|
G | A | 2 | a0001c0001t0004g0127a0001c0001t0004g0129 | 2 | NA18986.hp1 NA19070.hp2 |
intron_variant | MODIFIER | c.-175+7891G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60686973 | ||||||
| chr8:60687303
|
TA | T | 191 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(188): Show | 191 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(188): Show |
intron_variant | MODIFIER | c.-175+8231delA | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60687303 | |||||
| chr8:60687479
|
A | G | 1 | a0001c0001t0002g0119 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.-175+8397A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60687479 | ||||||
| chr8:60687580
|
G | T | 195 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(192): Show | 195 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(192): Show |
intron_variant | MODIFIER | c.-175+8498G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60687580 | ||||||
| chr8:60687749
|
G | C | 176 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(173): Show | 176 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(173): Show |
intron_variant | MODIFIER | c.-175+8667G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60687749 | ||||||
| chr8:60688226
|
C | T | 1 | a0001c0007t0035g0160 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-175+9144C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60688226 | ||||||
| chr8:60688292
|
A | T | 1 | a0001c0006t0006g0096 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-175+9210A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60688292 | ||||||
| chr8:60688319
|
G | GTA | 61 | a0001c0001t0001g0028a0001c0001t0002g0125a0001c0001t0002g0131others(58): Show | 61 | HG00642.hp1 HG00741.hp2 HG01070.hp1 others(58): Show |
intron_variant | MODIFIER | c.-175+9240_-175+924 others(6): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60688319 | |||||
| chr8:60688652
|
T | A | 1 | a0001c0001t0001g0028 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-175+9570T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60688652 | ||||||
| chr8:60688864
|
A | G | 2 | a0001c0001t0004g0139a0001c0001t0031g0140 | 2 | HG02155.hp2 NA18954.hp2 |
intron_variant | MODIFIER | c.-175+9782A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60688864 | ||||||
| chr8:60688988
|
T | G | 1 | a0001c0002t0005g0111 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.-175+9906T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60688988 | ||||||
| chr8:60689019
|
A | G | 195 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(192): Show | 195 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(192): Show |
intron_variant | MODIFIER | c.-175+9937A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60689019 | ||||||
| chr8:60689072
|
T | A | 1 | a0001c0001t0011g0077 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.-175+9990T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60689072 | ||||||
| chr8:60689109
|
A | T | 1 | a0001c0019t0010g0043 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-175+10027A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60689109 | ||||||
| chr8:60689289
|
G | A | 195 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(192): Show | 195 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(192): Show |
intron_variant | MODIFIER | c.-175+10207G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60689289 | ||||||
| chr8:60690053
|
C | T | 3 | a0001c0002t0006g0109a0001c0002t0006g0114a0001c0032t0028g0174 | 3 | HG02572.hp2 HG02886.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.-175+10971C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60690053 | ||||||
| chr8:60690164
|
CAGAGTGG others(4): Show |
C | 17 | a0001c0001t0002g0074a0001c0001t0023g0213a0001c0002t0006g0109others(14): Show | 17 | HG02055.hp1 HG02559.hp2 HG02572.hp2 others(14): Show |
intron_variant | MODIFIER | c.-175+11084_-175+11 others(17): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60690164 | |||||
| chr8:60690175
|
G | A | 1 | a0001c0006t0006g0096 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-175+11093G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60690175 | ||||||
| chr8:60690196
|
TA | T | 13 | a0001c0001t0007g0145a0001c0001t0007g0147a0001c0001t0007g0223others(10): Show | 13 | HG01070.hp1 HG01071.hp1 HG02572.hp1 others(10): Show |
intron_variant | MODIFIER | c.-175+11127delA | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60690196 | |||||
| chr8:60690240
|
C | T | 9 | a0001c0003t0004g0107a0001c0003t0004g0108a0001c0003t0004g0171others(6): Show | 9 | HG02055.hp1 HG02559.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.-175+11158C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60690240 | ||||||
| chr8:60690402
|
G | A | 195 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(192): Show | 195 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(192): Show |
intron_variant | MODIFIER | c.-175+11320G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60690402 | ||||||
| chr8:60690557
|
G | T | 28 | a0001c0001t0012g0097a0001c0001t0012g0102a0001c0001t0012g0112others(25): Show | 28 | HG00099.hp1 HG00735.hp2 HG01069.hp1 others(25): Show |
intron_variant | MODIFIER | c.-175+11475G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60690557 | ||||||
| chr8:60690678
|
G | T | 31 | a0001c0001t0012g0097a0001c0001t0012g0102a0001c0001t0012g0112others(28): Show | 31 | HG00099.hp1 HG00735.hp2 HG01069.hp1 others(28): Show |
intron_variant | MODIFIER | c.-175+11596G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60690678 | ||||||
| chr8:60690797
|
G | A | 9 | a0001c0003t0004g0107a0001c0003t0004g0108a0001c0003t0004g0171others(6): Show | 9 | HG02055.hp1 HG02559.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.-175+11715G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60690797 | ||||||
| chr8:60691098
|
A | G | 1 | a0001c0001t0014g0233 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.-175+12016A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60691098 | ||||||
| chr8:60691153
|
T | C | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-175+12071T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60691153 | ||||||
| chr8:60691168
|
C | T | 1 | a0001c0008t0014g0122 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.-175+12086C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60691168 | ||||||
| chr8:60691260
|
A | G | 1 | a0001c0003t0004g0108 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.-175+12178A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60691260 | ||||||
| chr8:60691568
|
T | C | 1 | a0001c0001t0015g0035 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-175+12486T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60691568 | ||||||
| chr8:60691655
|
T | C | 1 | a0001c0032t0028g0174 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.-175+12573T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60691655 | ||||||
| chr8:60691663
|
C | T | 17 | a0001c0001t0002g0074a0001c0001t0023g0213a0001c0002t0006g0109others(14): Show | 17 | HG02055.hp1 HG02559.hp2 HG02572.hp2 others(14): Show |
intron_variant | MODIFIER | c.-175+12581C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60691663 | ||||||
| chr8:60691804
|
G | T | 5 | a0001c0002t0006g0013a0001c0002t0006g0026a0001c0002t0006g0073others(2): Show | 5 | HG06807.hp2 NA18950.hp1 NA18965.hp2 others(2): Show |
intron_variant | MODIFIER | c.-175+12722G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60691804 | ||||||
| chr8:60692140
|
T | C | 1 | a0001c0001t0007g0223 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-175+13058T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60692140 | ||||||
| chr8:60692168
|
G | A | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-175+13086G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60692168 | ||||||
| chr8:60692209
|
GT | G | 8 | a0001c0001t0001g0024a0001c0001t0001g0051a0001c0001t0001g0052others(5): Show | 8 | HG00280.hp1 HG01081.hp1 HG01255.hp2 others(5): Show |
intron_variant | MODIFIER | c.-175+13128delT | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60692209 | ||||||
| chr8:60692592
|
G | A | 1 | a0008c0028t0037g0170 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.-175+13510G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60692592 | ||||||
| chr8:60692609
|
T | C | 3 | a0001c0001t0003g0046a0001c0001t0003g0047a0001c0001t0003g0148 | 3 | HG00140.hp2 HG01515.hp2 NA20805.hp1 |
intron_variant | MODIFIER | c.-175+13527T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60692609 | ||||||
| chr8:60692635
|
T | C | 32 | a0001c0001t0012g0097a0001c0001t0012g0102a0001c0001t0012g0112others(29): Show | 32 | HG00099.hp1 HG00735.hp2 HG01069.hp1 others(29): Show |
intron_variant | MODIFIER | c.-175+13553T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60692635 | ||||||
| chr8:60692948
|
A | G | 1 | a0001c0019t0010g0043 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-175+13866A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60692948 | ||||||
| chr8:60692970
|
G | A | 1 | a0001c0001t0002g0212 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.-175+13888G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60692970 | ||||||
| chr8:60693088
|
A | G | 147 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(144): Show | 147 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(144): Show |
intron_variant | MODIFIER | c.-175+14006A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60693088 | ||||||
| chr8:60693163
|
C | T | 2 | a0001c0001t0001g0072a0001c0001t0001g0092 | 2 | HG02523.hp1 NA18984.hp2 |
intron_variant | MODIFIER | c.-175+14081C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60693163 | ||||||
| chr8:60693192
|
C | G | 2 | a0001c0001t0023g0213a0001c0027t0027g0185 | 2 | NA19030.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.-175+14110C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60693192 | ||||||
| chr8:60693199
|
C | T | 16 | a0001c0001t0002g0074a0001c0001t0023g0213a0001c0002t0006g0109others(13): Show | 16 | HG02055.hp1 HG02559.hp2 HG02572.hp2 others(13): Show |
intron_variant | MODIFIER | c.-175+14117C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60693199 | ||||||
| chr8:60693209
|
G | T | 147 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(144): Show | 147 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(144): Show |
intron_variant | MODIFIER | c.-175+14127G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60693209 | ||||||
| chr8:60693211
|
A | G | 1 | a0006c0037t0036g0214 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.-175+14129A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60693211 | ||||||
| chr8:60693387
|
C | T | 1 | a0001c0001t0001g0071 | 1 | NA18950.hp2 | intron_variant | MODIFIER | c.-175+14305C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60693387 | ||||||
| chr8:60693589
|
C | T | 195 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(192): Show | 195 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(192): Show |
intron_variant | MODIFIER | c.-175+14507C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60693589 | ||||||
| chr8:60693856
|
C | T | 195 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(192): Show | 195 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(192): Show |
intron_variant | MODIFIER | c.-175+14774C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60693856 | ||||||
| chr8:60693874
|
C | A | 195 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(192): Show | 195 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(192): Show |
intron_variant | MODIFIER | c.-175+14792C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60693874 | ||||||
| chr8:60693961
|
T | A | 1 | a0001c0002t0006g0218 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.-175+14879T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60693961 | ||||||
| chr8:60694143
|
G | A | 5 | a0001c0001t0007g0042a0001c0001t0007g0141a0001c0001t0007g0143others(2): Show | 5 | HG01081.hp2 HG01928.hp1 HG02293.hp1 others(2): Show |
intron_variant | MODIFIER | c.-175+15061G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60694143 | ||||||
| chr8:60694150
|
C | T | 1 | a0001c0027t0027g0185 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-175+15068C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60694150 | ||||||
| chr8:60694186
|
G | A | 32 | a0001c0001t0012g0097a0001c0001t0012g0102a0001c0001t0012g0112others(29): Show | 32 | HG00099.hp1 HG00735.hp2 HG01069.hp1 others(29): Show |
intron_variant | MODIFIER | c.-175+15104G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60694186 | ||||||
| chr8:60694203
|
T | C | 53 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(50): Show | 53 | HG00280.hp1 HG00438.hp2 HG00558.hp1 others(50): Show |
intron_variant | MODIFIER | c.-175+15121T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60694203 | ||||||
| chr8:60694271
|
T | C | 2 | a0001c0002t0005g0098a0001c0007t0005g0099 | 2 | HG02258.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.-175+15189T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60694271 | ||||||
| chr8:60694290
|
A | G | 1 | a0001c0001t0007g0002 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.-175+15208A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60694290 | ||||||
| chr8:60694309
|
A | G | 8 | a0001c0003t0004g0107a0001c0003t0004g0108a0001c0003t0004g0171others(5): Show | 8 | HG02055.hp1 HG02559.hp2 HG02818.hp2 others(5): Show |
intron_variant | MODIFIER | c.-175+15227A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60694309 | ||||||
| chr8:60694424
|
A | G | 1 | a0001c0006t0006g0096 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-175+15342A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60694424 | ||||||
| chr8:60694627
|
G | A | 2 | a0001c0001t0004g0216a0001c0001t0015g0035 | 2 | NA19056.hp2 NA19072.hp1 |
intron_variant | MODIFIER | c.-175+15545G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60694627 | ||||||
| chr8:60694637
|
C | T | 2 | a0001c0001t0001g0014a0001c0001t0001g0076 | 2 | HG03491.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.-175+15555C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60694637 | ||||||
| chr8:60694804
|
G | A | 1 | a0001c0001t0007g0223 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-175+15722G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60694804 | ||||||
| chr8:60694892
|
A | G | 28 | a0001c0001t0012g0097a0001c0001t0012g0102a0001c0001t0012g0112others(25): Show | 28 | HG00099.hp1 HG00735.hp2 HG01069.hp1 others(25): Show |
intron_variant | MODIFIER | c.-175+15810A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60694892 | ||||||
| chr8:60694898
|
A | G | 29 | a0001c0001t0003g0019a0001c0001t0003g0020a0001c0001t0003g0021others(26): Show | 29 | HG00140.hp2 HG00558.hp2 HG00673.hp1 others(26): Show |
intron_variant | MODIFIER | c.-175+15816A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60694898 | ||||||
| chr8:60695017
|
C | T | 1 | a0001c0001t0003g0089 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.-175+15935C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60695017 | ||||||
| chr8:60695102
|
G | A | 2 | a0001c0001t0011g0077a0001c0001t0011g0090 | 2 | HG00673.hp1 NA19077.hp1 |
intron_variant | MODIFIER | c.-175+16020G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60695102 | ||||||
| chr8:60695342
|
T | C | 3 | a0001c0001t0001g0014a0001c0001t0001g0075a0001c0001t0001g0076 | 3 | HG03491.hp2 HG03492.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.-175+16260T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60695342 | ||||||
| chr8:60695360
|
A | T | 1 | a0001c0002t0006g0218 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.-175+16278A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60695360 | ||||||
| chr8:60695430
|
A | C | 1 | a0001c0001t0003g0050 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.-175+16348A>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60695430 | ||||||
| chr8:60695483
|
A | G | 1 | a0001c0024t0004g0146 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.-175+16401A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60695483 | ||||||
| chr8:60695547
|
G | A | 16 | a0001c0001t0002g0074a0001c0001t0023g0213a0001c0002t0006g0109others(13): Show | 16 | HG02055.hp1 HG02559.hp2 HG02572.hp2 others(13): Show |
intron_variant | MODIFIER | c.-175+16465G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60695547 | ||||||
| chr8:60695929
|
T | TA | 60 | a0001c0001t0001g0028a0001c0001t0002g0125a0001c0001t0002g0131others(57): Show | 60 | HG00642.hp1 HG00741.hp2 HG01081.hp2 others(57): Show |
intron_variant | MODIFIER | c.-175+16850dupA | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60695929 | |||||
| chr8:60696058
|
T | A | 1 | a0001c0032t0028g0174 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.-175+16976T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60696058 | ||||||
| chr8:60696200
|
T | A | 1 | a0001c0001t0007g0223 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-175+17118T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60696200 | ||||||
| chr8:60696292
|
T | C | 1 | a0015c0015t0010g0222 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.-175+17210T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60696292 | ||||||
| chr8:60696374
|
G | A | 1 | a0001c0001t0031g0140 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.-175+17292G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60696374 | ||||||
| chr8:60696376
|
T | C | 3 | a0001c0001t0009g0224a0001c0001t0009g0225a0006c0037t0036g0214 | 3 | HG01070.hp1 HG01071.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.-175+17294T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60696376 | ||||||
| chr8:60696448
|
A | C | 1 | a0001c0002t0006g0218 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.-175+17366A>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60696448 | ||||||
| chr8:60696607
|
A | G | 1 | a0001c0006t0006g0096 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-175+17525A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60696607 | ||||||
| chr8:60696978
|
C | T | 1 | a0001c0001t0014g0233 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.-175+17896C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60696978 | ||||||
| chr8:60697353
|
A | G | 45 | a0001c0001t0001g0028a0001c0001t0002g0125a0001c0001t0002g0131others(42): Show | 45 | HG00642.hp1 HG01081.hp2 HG01175.hp1 others(42): Show |
intron_variant | MODIFIER | c.-175+18271A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60697353 | ||||||
| chr8:60697418
|
A | G | 11 | a0001c0001t0007g0145a0001c0001t0007g0147a0001c0001t0007g0223others(8): Show | 11 | HG01070.hp1 HG01071.hp1 HG02572.hp1 others(8): Show |
intron_variant | MODIFIER | c.-175+18336A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60697418 | ||||||
| chr8:60697424
|
A | G | 1 | a0001c0002t0006g0218 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.-175+18342A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60697424 | ||||||
| chr8:60697933
|
C | T | 1 | a0003c0035t0038g0219 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.-175+18851C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60697933 | ||||||
| chr8:60698046
|
G | A | 1 | a0001c0006t0006g0096 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-175+18964G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60698046 | ||||||
| chr8:60698283
|
G | T | 2 | a0001c0002t0006g0234a0001c0002t0006g0235 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.-175+19201G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60698283 | ||||||
| chr8:60698624
|
G | A | 145 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(142): Show | 145 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(142): Show |
intron_variant | MODIFIER | c.-175+19542G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60698624 | ||||||
| chr8:60698754
|
T | C | 1 | a0013c0012t0024g0187 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.-175+19672T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60698754 | ||||||
| chr8:60698770
|
T | G | 1 | a0015c0015t0010g0222 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.-175+19688T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60698770 | ||||||
| chr8:60698771
|
T | A | 1 | a0015c0015t0010g0222 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.-175+19689T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60698771 | ||||||
| chr8:60698861
|
A | G | 85 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(82): Show | 85 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(82): Show |
intron_variant | MODIFIER | c.-175+19779A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60698861 | ||||||
| chr8:60699181
|
A | T | 1 | a0001c0036t0026g0106 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.-175+20099A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60699181 | ||||||
| chr8:60699439
|
T | C | 1 | a0001c0002t0006g0218 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.-175+20357T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60699439 | ||||||
| chr8:60699460
|
A | G | 2 | a0001c0001t0023g0213a0001c0027t0027g0185 | 2 | NA19030.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.-175+20378A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60699460 | ||||||
| chr8:60699525
|
A | T | 32 | a0001c0001t0012g0097a0001c0001t0012g0102a0001c0001t0012g0112others(29): Show | 32 | HG00099.hp1 HG00735.hp2 HG01069.hp1 others(29): Show |
intron_variant | MODIFIER | c.-175+20443A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60699525 | ||||||
| chr8:60699525
|
AT | A | 13 | a0001c0001t0003g0078a0001c0001t0007g0141a0001c0001t0009g0226others(10): Show | 13 | HG02055.hp1 HG02559.hp2 HG02818.hp2 others(10): Show |
intron_variant | MODIFIER | c.-175+20456delT | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60699525 | |||||
| chr8:60699615
|
C | T | 1 | a0001c0001t0021g0023 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.-175+20533C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60699615 | ||||||
| chr8:60699621
|
C | T | 1 | a0001c0001t0046g0138 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.-175+20539C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60699621 | ||||||
| chr8:60699649
|
G | A | 1 | a0001c0001t0015g0130 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.-175+20567G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60699649 | ||||||
| chr8:60699771
|
T | C | 1 | a0013c0012t0024g0187 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.-175+20689T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60699771 | ||||||
| chr8:60699791
|
A | G | 1 | a0001c0005t0002g0215 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.-175+20709A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60699791 | ||||||
| chr8:60699833
|
CT | C | 94 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(91): Show | 94 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(91): Show |
intron_variant | MODIFIER | c.-175+20763delT | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60699833 | |||||
| chr8:60699897
|
G | A | 1 | a0001c0002t0006g0109 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.-175+20815G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60699897 | ||||||
| chr8:60699922
|
C | T | 1 | a0001c0001t0021g0023 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.-175+20840C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60699922 | ||||||
| chr8:60699950
|
C | T | 18 | a0001c0001t0002g0074a0001c0001t0009g0224a0001c0001t0009g0225others(15): Show | 18 | HG01070.hp1 HG01071.hp1 HG02055.hp1 others(15): Show |
intron_variant | MODIFIER | c.-175+20868C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60699950 | ||||||
| chr8:60700047
|
A | G | 1 | a0001c0036t0026g0106 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.-175+20965A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60700047 | ||||||
| chr8:60700298
|
G | A | 1 | a0001c0001t0013g0100 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.-175+21216G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60700298 | ||||||
| chr8:60700340
|
G | C | 1 | a0001c0001t0034g0126 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.-175+21258G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60700340 | ||||||
| chr8:60700464
|
A | G | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-175+21382A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60700464 | ||||||
| chr8:60700466
|
A | G | 85 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(82): Show | 85 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(82): Show |
intron_variant | MODIFIER | c.-175+21384A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60700466 | ||||||
| chr8:60700492
|
G | A | 9 | a0001c0002t0005g0101a0001c0002t0005g0162a0001c0002t0005g0164others(6): Show | 9 | HG01109.hp2 HG01192.hp1 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.-175+21410G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60700492 | ||||||
| chr8:60700769
|
T | A | 3 | a0001c0001t0009g0224a0001c0001t0009g0225a0006c0037t0036g0214 | 3 | HG01070.hp1 HG01071.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.-175+21687T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60700769 | ||||||
| chr8:60700793
|
G | A | 1 | a0001c0002t0006g0218 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.-175+21711G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60700793 | ||||||
| chr8:60700845
|
T | C | 195 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(192): Show | 195 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(192): Show |
intron_variant | MODIFIER | c.-175+21763T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60700845 | ||||||
| chr8:60700905
|
A | G | 2 | a0001c0001t0002g0182a0001c0001t0002g0212 | 2 | HG00140.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.-175+21823A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60700905 | ||||||
| chr8:60701162
|
C | T | 4 | a0001c0001t0001g0024a0001c0001t0001g0053a0001c0001t0001g0149others(1): Show | 4 | HG01081.hp1 HG02602.hp1 HG03710.hp2 others(1): Show |
intron_variant | MODIFIER | c.-175+22080C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60701162 | ||||||
| chr8:60701174
|
CAACAGTT others(3): Show |
C | 1 | a0001c0006t0016g0120 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.-175+22093_-175+22 others(16): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60701174 | ||||||
| chr8:60701865
|
C | T | 1 | a0001c0002t0006g0218 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.-175+22783C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60701865 | ||||||
| chr8:60701902
|
G | T | 1 | a0001c0006t0006g0096 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-175+22820G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60701902 | ||||||
| chr8:60702023
|
T | C | 1 | a0018c0014t0003g0017 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.-175+22941T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60702023 | ||||||
| chr8:60702325
|
G | T | 145 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(142): Show | 145 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(142): Show |
intron_variant | MODIFIER | c.-175+23243G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60702325 | ||||||
| chr8:60702608
|
C | G | 2 | a0001c0002t0005g0167a0001c0002t0005g0183 | 2 | HG02486.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.-175+23526C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60702608 | ||||||
| chr8:60702902
|
C | T | 45 | a0001c0001t0001g0028a0001c0001t0002g0125a0001c0001t0002g0131others(42): Show | 45 | HG00642.hp1 HG01081.hp2 HG01175.hp1 others(42): Show |
intron_variant | MODIFIER | c.-175+23820C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60702902 | ||||||
| chr8:60702911
|
G | A | 1 | a0001c0003t0004g0171 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-175+23829G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60702911 | ||||||
| chr8:60703443
|
G | A | 1 | a0016c0031t0003g0018 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.-175+24361G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60703443 | ||||||
| chr8:60703587
|
GT | G | 3 | a0001c0002t0006g0109a0001c0002t0006g0114a0001c0032t0028g0174 | 3 | HG02572.hp2 HG02886.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.-175+24508delT | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60703587 | |||||
| chr8:60703592
|
G | T | 3 | a0001c0002t0006g0109a0001c0002t0006g0114a0001c0032t0028g0174 | 3 | HG02572.hp2 HG02886.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.-175+24510G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60703592 | ||||||
| chr8:60703956
|
C | G | 15 | a0001c0001t0049g0029a0001c0002t0005g0101a0001c0002t0005g0111others(12): Show | 15 | HG00099.hp1 HG00735.hp2 HG01109.hp2 others(12): Show |
intron_variant | MODIFIER | c.-175+24874C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60703956 | ||||||
| chr8:60703972
|
C | T | 1 | a0001c0001t0014g0233 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.-175+24890C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60703972 | ||||||
| chr8:60704117
|
T | C | 1 | a0001c0006t0006g0096 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-175+25035T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60704117 | ||||||
| chr8:60704284
|
T | C | 85 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(82): Show | 85 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(82): Show |
intron_variant | MODIFIER | c.-175+25202T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60704284 | ||||||
| chr8:60704498
|
GAGAGCTT others(13): Show |
G | 3 | a0001c0002t0006g0109a0001c0002t0006g0114a0001c0032t0028g0174 | 3 | HG02572.hp2 HG02886.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.-175+25422_-175+25 others(26): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60704498 | |||||
| chr8:60704710
|
G | C | 1 | a0004c0029t0008g0150 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.-175+25628G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60704710 | ||||||
| chr8:60704731
|
G | A | 1 | a0001c0002t0006g0218 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.-175+25649G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60704731 | ||||||
| chr8:60704835
|
A | T | 1 | a0001c0001t0008g0068 | 1 | NA18980.hp1 | intron_variant | MODIFIER | c.-175+25753A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60704835 | ||||||
| chr8:60705037
|
G | A | 1 | a0001c0038t0010g0169 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.-175+25955G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60705037 | ||||||
| chr8:60705058
|
A | G | 1 | a0001c0006t0006g0096 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-175+25976A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60705058 | ||||||
| chr8:60705214
|
CAAG | C | 16 | a0001c0001t0002g0074a0001c0001t0023g0213a0001c0002t0006g0109others(13): Show | 16 | HG02055.hp1 HG02559.hp2 HG02572.hp2 others(13): Show |
intron_variant | MODIFIER | c.-175+26133_-175+26 others(9): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60705214 | ||||||
| chr8:60705261
|
C | T | 1 | a0001c0001t0014g0233 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.-175+26179C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60705261 | ||||||
| chr8:60705290
|
C | T | 30 | a0001c0001t0001g0067a0001c0001t0003g0019a0001c0001t0003g0020others(27): Show | 30 | HG00140.hp2 HG00558.hp2 HG00673.hp1 others(27): Show |
intron_variant | MODIFIER | c.-175+26208C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60705290 | ||||||
| chr8:60705414
|
T | C | 1 | a0001c0001t0048g0044 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.-175+26332T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60705414 | ||||||
| chr8:60705843
|
T | C | 16 | a0001c0001t0002g0074a0001c0001t0023g0213a0001c0002t0006g0109others(13): Show | 16 | HG02055.hp1 HG02559.hp2 HG02572.hp2 others(13): Show |
intron_variant | MODIFIER | c.-175+26761T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60705843 | ||||||
| chr8:60706154
|
A | G | 86 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(83): Show | 86 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(83): Show |
intron_variant | MODIFIER | c.-175+27072A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60706154 | ||||||
| chr8:60706195
|
G | A | 2 | a0001c0001t0023g0213a0001c0027t0027g0185 | 2 | NA19030.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.-175+27113G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60706195 | ||||||
| chr8:60706213
|
C | G | 1 | a0013c0012t0024g0187 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.-175+27131C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60706213 | ||||||
| chr8:60706327
|
G | A | 1 | a0001c0002t0005g0111 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.-175+27245G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60706327 | ||||||
| chr8:60706373
|
C | T | 16 | a0001c0001t0002g0074a0001c0001t0023g0213a0001c0002t0006g0109others(13): Show | 16 | HG02055.hp1 HG02559.hp2 HG02572.hp2 others(13): Show |
intron_variant | MODIFIER | c.-175+27291C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60706373 | ||||||
| chr8:60706389
|
A | G | 86 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(83): Show | 86 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(83): Show |
intron_variant | MODIFIER | c.-175+27307A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60706389 | ||||||
| chr8:60706464
|
T | G | 3 | a0001c0002t0006g0109a0001c0002t0006g0114a0001c0032t0028g0174 | 3 | HG02572.hp2 HG02886.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.-175+27382T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60706464 | ||||||
| chr8:60706660
|
A | G | 1 | a0001c0006t0006g0096 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-175+27578A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60706660 | ||||||
| chr8:60706815
|
T | A | 1 | a0001c0001t0001g0003 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.-175+27733T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60706815 | ||||||
| chr8:60706868
|
A | G | 195 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(192): Show | 195 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(192): Show |
intron_variant | MODIFIER | c.-175+27786A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60706868 | ||||||
| chr8:60706912
|
C | T | 1 | a0001c0006t0006g0096 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-175+27830C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60706912 | ||||||
| chr8:60707438
|
CGTGTTCC others(10): Show |
C | 1 | a0001c0002t0006g0218 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.-175+28357_-175+28 others(23): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60707438 | ||||||
| chr8:60707495
|
C | T | 1 | a0006c0037t0036g0214 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.-175+28413C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60707495 | ||||||
| chr8:60708054
|
G | A | 56 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(53): Show | 56 | HG00280.hp1 HG00438.hp2 HG00558.hp1 others(53): Show |
intron_variant | MODIFIER | c.-175+28972G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60708054 | ||||||
| chr8:60708073
|
T | C | 18 | a0001c0001t0002g0074a0001c0001t0009g0224a0001c0001t0009g0225others(15): Show | 18 | HG01070.hp1 HG01071.hp1 HG02055.hp1 others(15): Show |
intron_variant | MODIFIER | c.-175+28991T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60708073 | ||||||
| chr8:60708202
|
T | G | 18 | a0001c0001t0002g0074a0001c0001t0009g0224a0001c0001t0009g0225others(15): Show | 18 | HG01070.hp1 HG01071.hp1 HG02055.hp1 others(15): Show |
intron_variant | MODIFIER | c.-175+29120T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60708202 | ||||||
| chr8:60708266
|
C | T | 1 | a0001c0002t0006g0218 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.-175+29184C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60708266 | ||||||
| chr8:60708328
|
A | T | 1 | a0001c0002t0005g0166 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.-175+29246A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60708328 | ||||||
| chr8:60708335
|
T | C | 195 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(192): Show | 195 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(192): Show |
intron_variant | MODIFIER | c.-175+29253T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60708335 | ||||||
| chr8:60708559
|
A | G | 1 | a0001c0001t0002g0188 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.-175+29477A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60708559 | ||||||
| chr8:60708693
|
C | G | 2 | a0001c0001t0001g0014a0001c0001t0001g0076 | 2 | HG03491.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.-175+29611C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60708693 | ||||||
| chr8:60708700
|
A | G | 1 | a0001c0001t0019g0211 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.-175+29618A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60708700 | ||||||
| chr8:60708947
|
C | G | 145 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(142): Show | 145 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(142): Show |
intron_variant | MODIFIER | c.-175+29865C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60708947 | ||||||
| chr8:60709080
|
A | G | 1 | a0001c0027t0027g0185 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-175+29998A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60709080 | ||||||
| chr8:60709298
|
G | A | 1 | a0001c0002t0006g0218 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.-175+30216G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60709298 | ||||||
| chr8:60709715
|
T | C | 1 | a0001c0001t0003g0019 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.-175+30633T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60709715 | ||||||
| chr8:60710059
|
G | C | 1 | a0001c0001t0001g0004 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.-175+30977G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60710059 | ||||||
| chr8:60710076
|
C | CT | 11 | a0001c0001t0007g0145a0001c0001t0007g0147a0001c0001t0007g0223others(8): Show | 11 | HG01070.hp1 HG01071.hp1 HG02572.hp1 others(8): Show |
intron_variant | MODIFIER | c.-175+31006dupT | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60710076 | |||||
| chr8:60710234
|
C | CT | 58 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(55): Show | 58 | HG00280.hp1 HG00438.hp2 HG00558.hp1 others(55): Show |
intron_variant | MODIFIER | c.-174-31009dupT | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60710234 | |||||
| chr8:60710234
|
CT | C | 32 | a0001c0001t0012g0097a0001c0001t0012g0102a0001c0001t0012g0112others(29): Show | 32 | HG00099.hp1 HG00735.hp2 HG01069.hp1 others(29): Show |
intron_variant | MODIFIER | c.-174-31009delT | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60710234 | |||||
| chr8:60710610
|
C | A | 1 | a0001c0010t0011g0159 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.-174-30649C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60710610 | ||||||
| chr8:60710631
|
A | G | 6 | a0001c0001t0007g0042a0001c0001t0007g0141a0001c0001t0007g0143others(3): Show | 6 | HG00642.hp1 HG01081.hp2 HG01928.hp1 others(3): Show |
intron_variant | MODIFIER | c.-174-30628A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60710631 | ||||||
| chr8:60710754
|
T | C | 1 | a0001c0006t0016g0120 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.-174-30505T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60710754 | ||||||
| chr8:60710877
|
C | T | 1 | a0001c0001t0017g0192 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.-174-30382C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60710877 | ||||||
| chr8:60711124
|
A | C | 10 | a0001c0001t0016g0105a0001c0002t0006g0070a0001c0003t0004g0107others(7): Show | 10 | HG02055.hp1 HG02559.hp2 HG02818.hp2 others(7): Show |
intron_variant | MODIFIER | c.-174-30135A>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60711124 | ||||||
| chr8:60711592
|
T | C | 1 | a0001c0001t0039g0220 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.-174-29667T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60711592 | ||||||
| chr8:60711648
|
G | A | 1 | a0001c0001t0003g0020 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.-174-29611G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60711648 | ||||||
| chr8:60711732
|
T | C | 179 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(176): Show | 179 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(176): Show |
intron_variant | MODIFIER | c.-174-29527T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60711732 | ||||||
| chr8:60712390
|
T | C | 25 | a0001c0001t0012g0097a0001c0001t0012g0102a0001c0001t0012g0112others(22): Show | 25 | HG00099.hp1 HG00735.hp2 HG01069.hp1 others(22): Show |
intron_variant | MODIFIER | c.-174-28869T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60712390 | ||||||
| chr8:60712406
|
G | T | 1 | a0001c0003t0004g0171 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-174-28853G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60712406 | ||||||
| chr8:60712681
|
C | A | 29 | a0001c0001t0003g0019a0001c0001t0003g0020a0001c0001t0003g0021others(26): Show | 29 | HG00140.hp2 HG00558.hp2 HG01515.hp2 others(26): Show |
intron_variant | MODIFIER | c.-174-28578C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60712681 | ||||||
| chr8:60712874
|
A | C | 1 | a0019c0013t0001g0012 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.-174-28385A>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60712874 | ||||||
| chr8:60713049
|
C | CA | 107 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006others(104): Show | 107 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(104): Show |
intron_variant | MODIFIER | c.-174-28192dupA | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60713049 | |||||
| chr8:60713049
|
C | CAA | 70 | a0001c0001t0001g0005a0001c0001t0001g0028a0001c0001t0002g0125others(67): Show | 70 | HG00642.hp1 HG00673.hp1 HG01069.hp1 others(67): Show |
intron_variant | MODIFIER | c.-174-28193_-174-28 others(8): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60713049 | |||||
| chr8:60713049
|
C | CAAA | 9 | a0001c0001t0004g0036a0001c0001t0007g0145a0001c0001t0007g0223others(6): Show | 9 | HG01175.hp1 HG02280.hp1 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.-174-28194_-174-28 others(9): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60713049 | |||||
| chr8:60713083
|
T | A | 1 | a0001c0002t0006g0109 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.-174-28176T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60713083 | ||||||
| chr8:60713260
|
C | T | 2 | a0001c0001t0004g0139a0001c0001t0031g0140 | 2 | HG02155.hp2 NA18954.hp2 |
intron_variant | MODIFIER | c.-174-27999C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60713260 | ||||||
| chr8:60713301
|
C | T | 2 | a0001c0001t0001g0005a0001c0001t0001g0048 | 2 | NA18962.hp1 NA19087.hp1 |
intron_variant | MODIFIER | c.-174-27958C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60713301 | ||||||
| chr8:60713356
|
T | C | 150 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(147): Show | 150 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(147): Show |
intron_variant | MODIFIER | c.-174-27903T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60713356 | ||||||
| chr8:60713414
|
AT | A | 83 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(80): Show | 83 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(80): Show |
intron_variant | MODIFIER | c.-174-27834delT | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60713414 | |||||
| chr8:60713528
|
T | C | 83 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(80): Show | 83 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(80): Show |
intron_variant | MODIFIER | c.-174-27731T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60713528 | ||||||
| chr8:60713797
|
C | T | 1 | a0001c0007t0035g0160 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-174-27462C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60713797 | ||||||
| chr8:60713886
|
A | AT | 25 | a0001c0001t0012g0097a0001c0001t0012g0102a0001c0001t0012g0112others(22): Show | 25 | HG00099.hp1 HG00735.hp2 HG01069.hp1 others(22): Show |
intron_variant | MODIFIER | c.-174-27366dupT | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60713886 | |||||
| chr8:60713915
|
T | TC | 179 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(176): Show | 179 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(176): Show |
intron_variant | MODIFIER | c.-174-27343dupC | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60713915 | |||||
| chr8:60713973
|
A | G | 179 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(176): Show | 179 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(176): Show |
intron_variant | MODIFIER | c.-174-27286A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60713973 | ||||||
| chr8:60714111
|
G | GGCCGCGC others(3): Show |
1 | a0001c0038t0010g0169 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.-174-27147_-174-27 others(16): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60714111 | |||||
| chr8:60714197
|
C | A | 1 | a0001c0001t0001g0151 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.-174-27062C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60714197 | ||||||
| chr8:60714322
|
A | G | 1 | a0001c0002t0005g0167 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.-174-26937A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60714322 | ||||||
| chr8:60714329
|
C | T | 1 | a0001c0027t0027g0185 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-174-26930C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60714329 | ||||||
| chr8:60714406
|
G | GC | 25 | a0001c0001t0001g0025a0001c0001t0002g0116a0001c0001t0002g0182others(22): Show | 25 | HG00140.hp1 HG00438.hp1 HG00673.hp2 others(22): Show |
intron_variant | MODIFIER | c.-174-26832dupC | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60714406 | |||||
| chr8:60714406
|
G | GCC | 17 | a0001c0001t0001g0069a0001c0001t0002g0110a0001c0001t0002g0115others(14): Show | 17 | HG01192.hp2 HG01934.hp1 HG01975.hp1 others(14): Show |
intron_variant | MODIFIER | c.-174-26833_-174-26 others(8): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60714406 | |||||
| chr8:60714406
|
G | GCCC | 22 | a0001c0001t0002g0131a0001c0001t0002g0188a0001c0001t0002g0195others(19): Show | 22 | HG00673.hp1 HG00735.hp1 HG01081.hp2 others(19): Show |
intron_variant | MODIFIER | c.-174-26834_-174-26 others(9): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60714406 | |||||
| chr8:60714406
|
GC | G | 17 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0054others(14): Show | 17 | HG00099.hp2 HG00741.hp1 HG01070.hp1 others(14): Show |
intron_variant | MODIFIER | c.-174-26832delC | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60714406 | |||||
| chr8:60714406
|
GCC | G | 25 | a0001c0001t0001g0005a0001c0001t0001g0024a0001c0001t0001g0049others(22): Show | 25 | HG00280.hp1 HG00438.hp2 HG00642.hp2 others(22): Show |
intron_variant | MODIFIER | c.-174-26833_-174-26 others(8): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60714406 | |||||
| chr8:60714406
|
GCCC | G | 28 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(25): Show | 28 | HG00558.hp1 HG00639.hp1 HG01175.hp2 others(25): Show |
intron_variant | MODIFIER | c.-174-26834_-174-26 others(9): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60714406 | |||||
| chr8:60714406
|
GCCCCC | G | 28 | a0001c0001t0003g0021a0001c0001t0003g0022a0001c0001t0003g0027others(25): Show | 28 | HG01109.hp2 HG01243.hp1 HG02055.hp2 others(25): Show |
intron_variant | MODIFIER | c.-174-26836_-174-26 others(11): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60714406 | |||||
| chr8:60714406
|
GCCCCCC | G | 18 | a0001c0001t0003g0019a0001c0001t0003g0020a0001c0001t0003g0047others(15): Show | 18 | HG00140.hp2 HG01192.hp1 HG01515.hp2 others(15): Show |
intron_variant | MODIFIER | c.-174-26837_-174-26 others(12): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60714406 | |||||
| chr8:60714412
|
CCCCCCCC others(9): Show |
C | 1 | a0001c0001t0008g0034 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.-174-26842_-174-26 others(22): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60714412 | |||||
| chr8:60714417
|
C | T | 1 | a0001c0006t0006g0096 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-174-26842C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60714417 | ||||||
| chr8:60714426
|
C | G | 1 | a0001c0001t0013g0100 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.-174-26833C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60714426 | ||||||
| chr8:60714439
|
C | T | 1 | a0001c0001t0003g0047 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.-174-26820C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60714439 | ||||||
| chr8:60714624
|
C | T | 5 | a0001c0002t0006g0013a0001c0002t0006g0026a0001c0002t0006g0073others(2): Show | 5 | NA18950.hp1 NA18965.hp2 NA18987.hp1 others(2): Show |
intron_variant | MODIFIER | c.-174-26635C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60714624 | ||||||
| chr8:60714663
|
T | C | 1 | a0001c0002t0006g0091 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.-174-26596T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60714663 | ||||||
| chr8:60714667
|
G | A | 25 | a0001c0001t0012g0097a0001c0001t0012g0102a0001c0001t0012g0112others(22): Show | 25 | HG00099.hp1 HG00735.hp2 HG01069.hp1 others(22): Show |
intron_variant | MODIFIER | c.-174-26592G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60714667 | ||||||
| chr8:60714753
|
T | C | 196 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(193): Show | 196 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(193): Show |
intron_variant | MODIFIER | c.-174-26506T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60714753 | ||||||
| chr8:60715136
|
C | T | 1 | a0001c0001t0002g0207 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.-174-26123C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60715136 | ||||||
| chr8:60715326
|
C | CT | 33 | a0001c0001t0001g0028a0001c0001t0002g0195a0001c0001t0004g0040others(30): Show | 33 | HG00099.hp1 HG00735.hp1 HG00735.hp2 others(30): Show |
intron_variant | MODIFIER | c.-174-25914dupT | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60715326 | |||||
| chr8:60715326
|
CT | C | 11 | a0001c0001t0001g0054a0001c0001t0002g0074a0001c0001t0002g0125others(8): Show | 11 | HG01099.hp2 HG01255.hp1 HG01975.hp1 others(8): Show |
intron_variant | MODIFIER | c.-174-25914delT | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60715326 | |||||
| chr8:60715476
|
C | T | 7 | a0001c0001t0001g0011a0001c0001t0004g0064a0001c0001t0008g0066others(4): Show | 7 | HG02080.hp1 NA18980.hp1 NA18985.hp1 others(4): Show |
intron_variant | MODIFIER | c.-174-25783C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60715476 | ||||||
| chr8:60715604
|
C | T | 1 | a0001c0001t0008g0066 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.-174-25655C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60715604 | ||||||
| chr8:60715761
|
AAAAACAA others(3): Show |
A | 47 | a0001c0001t0002g0125a0001c0001t0002g0131a0001c0001t0004g0036others(44): Show | 47 | HG00642.hp1 HG00673.hp1 HG01081.hp2 others(44): Show |
intron_variant | MODIFIER | c.-174-25482_-174-25 others(16): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60715761 | |||||
| chr8:60715817
|
C | A | 3 | a0001c0002t0006g0234a0001c0002t0006g0235a0001c0008t0010g0236 | 3 | HG02818.hp1 HG02896.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.-174-25442C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60715817 | ||||||
| chr8:60716014
|
C | T | 195 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(192): Show | 195 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(192): Show |
intron_variant | MODIFIER | c.-174-25245C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60716014 | ||||||
| chr8:60716081
|
T | C | 1 | a0001c0001t0041g0132 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.-174-25178T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60716081 | ||||||
| chr8:60716182
|
T | C | 1 | a0001c0002t0006g0218 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.-174-25077T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60716182 | ||||||
| chr8:60716448
|
C | G | 1 | a0001c0001t0002g0206 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-174-24811C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60716448 | ||||||
| chr8:60716679
|
A | G | 1 | a0001c0001t0017g0192 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.-174-24580A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60716679 | ||||||
| chr8:60716751
|
T | C | 1 | a0001c0001t0044g0001 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.-174-24508T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60716751 | ||||||
| chr8:60716764
|
G | T | 1 | a0001c0001t0049g0029 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.-174-24495G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60716764 | ||||||
| chr8:60716772
|
G | A | 195 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(192): Show | 195 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(192): Show |
intron_variant | MODIFIER | c.-174-24487G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60716772 | ||||||
| chr8:60716842
|
G | A | 177 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(174): Show | 177 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(174): Show |
intron_variant | MODIFIER | c.-174-24417G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60716842 | ||||||
| chr8:60716859
|
C | T | 148 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(145): Show | 148 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(145): Show |
intron_variant | MODIFIER | c.-174-24400C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60716859 | ||||||
| chr8:60717033
|
CT | C | 146 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(143): Show | 146 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(143): Show |
intron_variant | MODIFIER | c.-174-24209delT | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60717033 | |||||
| chr8:60717033
|
CTT | C | 27 | a0001c0001t0004g0127a0001c0001t0009g0227a0001c0001t0012g0097others(24): Show | 27 | HG00099.hp1 HG00735.hp2 HG01069.hp1 others(24): Show |
intron_variant | MODIFIER | c.-174-24210_-174-24 others(8): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60717033 | |||||
| chr8:60717093
|
A | G | 9 | a0001c0001t0007g0145a0001c0001t0007g0147a0001c0001t0007g0223others(6): Show | 9 | HG02572.hp1 HG02922.hp2 HG02970.hp1 others(6): Show |
intron_variant | MODIFIER | c.-174-24166A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60717093 | ||||||
| chr8:60717122
|
T | G | 6 | a0001c0001t0003g0021a0001c0001t0003g0078a0001c0001t0003g0080others(3): Show | 6 | NA18943.hp2 NA18957.hp1 NA18965.hp1 others(3): Show |
intron_variant | MODIFIER | c.-174-24137T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60717122 | ||||||
| chr8:60717303
|
C | T | 1 | a0019c0013t0001g0012 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.-174-23956C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60717303 | ||||||
| chr8:60717498
|
C | G | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-174-23761C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60717498 | ||||||
| chr8:60717526
|
A | G | 1 | a0001c0002t0006g0109 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.-174-23733A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60717526 | ||||||
| chr8:60717742
|
CA | C | 177 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(174): Show | 177 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(174): Show |
intron_variant | MODIFIER | c.-174-23515delA | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60717742 | |||||
| chr8:60717948
|
C | T | 5 | a0001c0001t0014g0221a0001c0001t0014g0233a0001c0001t0017g0231others(2): Show | 5 | HG00741.hp2 HG02280.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.-174-23311C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60717948 | ||||||
| chr8:60717968
|
T | A | 3 | a0001c0010t0007g0056a0001c0038t0010g0169a0013c0012t0024g0187 | 3 | HG00741.hp1 HG02109.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.-174-23291T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60717968 | ||||||
| chr8:60717968
|
T | TA | 83 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(80): Show | 83 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(80): Show |
intron_variant | MODIFIER | c.-174-23288dupA | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60717968 | |||||
| chr8:60717994
|
G | A | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-174-23265G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60717994 | ||||||
| chr8:60718193
|
G | C | 1 | a0001c0002t0005g0168 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.-174-23066G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60718193 | ||||||
| chr8:60718350
|
C | T | 2 | a0001c0001t0023g0213a0001c0027t0027g0185 | 2 | NA19030.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.-174-22909C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60718350 | ||||||
| chr8:60718466
|
C | T | 1 | a0001c0001t0049g0029 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.-174-22793C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60718466 | ||||||
| chr8:60718759
|
ACATC | A | 2 | a0001c0007t0005g0099a0001c0008t0014g0122 | 2 | HG02559.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.-174-22498_-174-22 others(10): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60718759 | |||||
| chr8:60718785
|
CCACT | C | 25 | a0001c0001t0012g0097a0001c0001t0012g0102a0001c0001t0012g0112others(22): Show | 25 | HG00099.hp1 HG00735.hp2 HG01069.hp1 others(22): Show |
intron_variant | MODIFIER | c.-174-22454_-174-22 others(10): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60718785 | |||||
| chr8:60718977
|
A | G | 1 | a0001c0001t0002g0131 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.-174-22282A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60718977 | ||||||
| chr8:60719012
|
T | C | 84 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(81): Show | 84 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(81): Show |
intron_variant | MODIFIER | c.-174-22247T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60719012 | ||||||
| chr8:60719038
|
G | T | 1 | a0001c0001t0001g0067 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.-174-22221G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60719038 | ||||||
| chr8:60719047
|
C | G | 6 | a0001c0003t0004g0107a0001c0003t0004g0108a0001c0003t0004g0171others(3): Show | 6 | HG02055.hp1 HG02818.hp2 HG02897.hp1 others(3): Show |
intron_variant | MODIFIER | c.-174-22212C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60719047 | ||||||
| chr8:60719062
|
A | G | 1 | a0001c0001t0008g0034 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.-174-22197A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60719062 | ||||||
| chr8:60719190
|
G | T | 1 | a0020c0011t0002g0205 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.-174-22069G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60719190 | ||||||
| chr8:60719353
|
T | C | 1 | a0001c0002t0005g0162 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.-174-21906T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60719353 | ||||||
| chr8:60719637
|
C | T | 83 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(80): Show | 83 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(80): Show |
intron_variant | MODIFIER | c.-174-21622C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60719637 | ||||||
| chr8:60719836
|
G | A | 1 | a0001c0001t0016g0105 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.-174-21423G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60719836 | ||||||
| chr8:60720008
|
A | T | 1 | a0001c0006t0006g0096 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-174-21251A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60720008 | ||||||
| chr8:60720046
|
G | A | 2 | a0001c0001t0007g0002a0001c0001t0022g0144 | 2 | HG00642.hp1 HG04199.hp2 |
intron_variant | MODIFIER | c.-174-21213G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60720046 | ||||||
| chr8:60720349
|
G | T | 6 | a0001c0003t0004g0107a0001c0003t0004g0108a0001c0003t0004g0171others(3): Show | 6 | HG02055.hp1 HG02818.hp2 HG02897.hp1 others(3): Show |
intron_variant | MODIFIER | c.-174-20910G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60720349 | ||||||
| chr8:60720520
|
G | A | 1 | a0001c0001t0044g0001 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.-174-20739G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60720520 | ||||||
| chr8:60720542
|
T | G | 1 | a0001c0038t0010g0169 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.-174-20717T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60720542 | ||||||
| chr8:60720559
|
C | A | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-174-20700C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60720559 | ||||||
| chr8:60720655
|
A | G | 1 | a0003c0035t0038g0219 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.-174-20604A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60720655 | ||||||
| chr8:60720780
|
TAATGGGG others(3): Show |
T | 3 | a0001c0001t0004g0134a0001c0001t0015g0130a0001c0001t0015g0137 | 3 | HG01255.hp1 NA20752.hp1 NA20805.hp2 |
intron_variant | MODIFIER | c.-174-20477_-174-20 others(16): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60720780 | |||||
| chr8:60720803
|
T | G | 1 | a0001c0001t0001g0004 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.-174-20456T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60720803 | ||||||
| chr8:60721057
|
G | A | 1 | a0001c0001t0003g0027 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.-174-20202G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60721057 | ||||||
| chr8:60721255
|
C | T | 2 | a0001c0001t0001g0007a0001c0033t0001g0010 | 2 | HG01928.hp2 HG02293.hp2 |
intron_variant | MODIFIER | c.-174-20004C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60721255 | ||||||
| chr8:60721316
|
G | T | 2 | a0002c0009t0013g0103a0002c0009t0013g0104 | 2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.-174-19943G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60721316 | ||||||
| chr8:60721459
|
G | T | 5 | a0001c0002t0006g0013a0001c0002t0006g0026a0001c0002t0006g0073others(2): Show | 5 | NA18950.hp1 NA18965.hp2 NA18987.hp1 others(2): Show |
intron_variant | MODIFIER | c.-174-19800G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60721459 | ||||||
| chr8:60721580
|
T | C | 5 | a0001c0002t0006g0013a0001c0002t0006g0026a0001c0002t0006g0073others(2): Show | 5 | NA18950.hp1 NA18965.hp2 NA18987.hp1 others(2): Show |
intron_variant | MODIFIER | c.-174-19679T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60721580 | ||||||
| chr8:60721585
|
A | G | 195 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(192): Show | 195 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(192): Show |
intron_variant | MODIFIER | c.-174-19674A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60721585 | ||||||
| chr8:60721975
|
G | A | 62 | a0001c0001t0002g0125a0001c0001t0002g0131a0001c0001t0004g0036others(59): Show | 62 | HG00642.hp1 HG00673.hp1 HG00741.hp2 others(59): Show |
intron_variant | MODIFIER | c.-174-19284G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60721975 | ||||||
| chr8:60722152
|
A | G | 1 | a0001c0001t0008g0068 | 1 | NA18980.hp1 | intron_variant | MODIFIER | c.-174-19107A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60722152 | ||||||
| chr8:60722193
|
A | G | 1 | a0001c0001t0002g0118 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.-174-19066A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60722193 | ||||||
| chr8:60722319
|
A | G | 1 | a0001c0006t0006g0096 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-174-18940A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60722319 | ||||||
| chr8:60722332
|
T | A | 1 | a0001c0001t0002g0115 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.-174-18927T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60722332 | ||||||
| chr8:60722345
|
G | A | 1 | a0001c0038t0010g0169 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.-174-18914G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60722345 | ||||||
| chr8:60722434
|
G | A | 1 | a0001c0001t0013g0100 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.-174-18825G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60722434 | ||||||
| chr8:60722679
|
A | G | 1 | a0013c0012t0024g0187 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.-174-18580A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60722679 | ||||||
| chr8:60722819
|
A | C | 1 | a0001c0002t0005g0098 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.-174-18440A>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60722819 | ||||||
| chr8:60722821
|
G | A | 1 | a0001c0001t0048g0044 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.-174-18438G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60722821 | ||||||
| chr8:60722980
|
A | G | 150 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(147): Show | 150 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(147): Show |
intron_variant | MODIFIER | c.-174-18279A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60722980 | ||||||
| chr8:60723028
|
T | C | 1 | a0001c0001t0041g0132 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.-174-18231T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60723028 | ||||||
| chr8:60723114
|
A | T | 1 | a0001c0001t0002g0110 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.-174-18145A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60723114 | ||||||
| chr8:60723226
|
G | A | 18 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0048others(15): Show | 18 | HG00438.hp2 HG00558.hp1 HG01099.hp1 others(15): Show |
intron_variant | MODIFIER | c.-174-18033G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60723226 | ||||||
| chr8:60723432
|
G | A | 50 | a0001c0001t0001g0058a0001c0001t0001g0069a0001c0001t0001g0072others(47): Show | 50 | HG00140.hp2 HG01192.hp2 HG01243.hp1 others(47): Show |
intron_variant | MODIFIER | c.-174-17827G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60723432 | ||||||
| chr8:60723615
|
T | G | 27 | a0001c0001t0001g0057a0001c0001t0001g0058a0001c0001t0001g0059others(24): Show | 27 | HG00140.hp1 HG00438.hp1 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.-174-17644T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60723615 | ||||||
| chr8:60723670
|
A | G | 2 | a0001c0001t0004g0127a0001c0001t0004g0129 | 2 | NA18986.hp1 NA19070.hp2 |
intron_variant | MODIFIER | c.-174-17589A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60723670 | ||||||
| chr8:60723752
|
C | T | 2 | a0001c0001t0001g0003a0001c0001t0001g0061 | 2 | HG00558.hp1 NA18943.hp1 |
intron_variant | MODIFIER | c.-174-17507C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60723752 | ||||||
| chr8:60724308
|
A | G | 1 | a0001c0032t0028g0174 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.-174-16951A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60724308 | ||||||
| chr8:60724328
|
A | G | 63 | a0001c0001t0002g0125a0001c0001t0002g0131a0001c0001t0004g0036others(60): Show | 63 | HG00099.hp1 HG00642.hp1 HG00673.hp1 others(60): Show |
intron_variant | MODIFIER | c.-174-16931A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60724328 | ||||||
| chr8:60724353
|
T | A | 77 | a0001c0001t0002g0125a0001c0001t0002g0131a0001c0001t0004g0036others(74): Show | 77 | HG00099.hp1 HG00642.hp1 HG00673.hp1 others(74): Show |
intron_variant | MODIFIER | c.-174-16906T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60724353 | ||||||
| chr8:60724399
|
C | T | 1 | a0003c0035t0038g0219 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.-174-16860C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60724399 | ||||||
| chr8:60724443
|
C | T | 77 | a0001c0001t0002g0125a0001c0001t0002g0131a0001c0001t0004g0036others(74): Show | 77 | HG00099.hp1 HG00642.hp1 HG00673.hp1 others(74): Show |
intron_variant | MODIFIER | c.-174-16816C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60724443 | ||||||
| chr8:60724533
|
A | G | 1 | a0018c0014t0003g0017 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.-174-16726A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60724533 | ||||||
| chr8:60724802
|
A | T | 1 | a0015c0015t0010g0222 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.-174-16457A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60724802 | ||||||
| chr8:60725147
|
G | A | 1 | a0001c0001t0001g0123 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.-174-16112G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60725147 | ||||||
| chr8:60725193
|
T | C | 194 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(191): Show | 194 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(191): Show |
intron_variant | MODIFIER | c.-174-16066T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60725193 | ||||||
| chr8:60725238
|
A | T | 2 | a0001c0001t0002g0117a0001c0001t0002g0202 | 2 | NA18990.hp1 NA19072.hp2 |
intron_variant | MODIFIER | c.-174-16021A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60725238 | ||||||
| chr8:60725315
|
A | C | 1 | a0001c0001t0002g0115 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.-174-15944A>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60725315 | ||||||
| chr8:60725364
|
G | A | 1 | a0001c0001t0017g0231 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.-174-15895G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60725364 | ||||||
| chr8:60725571
|
T | C | 1 | a0001c0001t0003g0086 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.-174-15688T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60725571 | ||||||
| chr8:60725680
|
G | T | 1 | a0001c0001t0014g0233 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.-174-15579G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60725680 | ||||||
| chr8:60725798
|
T | G | 2 | a0001c0001t0009g0224a0001c0001t0009g0225 | 2 | HG01070.hp1 HG01071.hp1 |
intron_variant | MODIFIER | c.-174-15461T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60725798 | ||||||
| chr8:60726147
|
C | T | 1 | a0001c0002t0006g0218 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.-174-15112C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60726147 | ||||||
| chr8:60726218
|
A | G | 1 | a0001c0016t0005g0121 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.-174-15041A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60726218 | ||||||
| chr8:60726295
|
A | G | 5 | a0001c0001t0004g0064a0001c0001t0008g0066a0001c0001t0008g0068others(2): Show | 5 | NA18980.hp1 NA18986.hp2 NA19004.hp2 others(2): Show |
intron_variant | MODIFIER | c.-174-14964A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60726295 | ||||||
| chr8:60726340
|
C | T | 2 | a0001c0007t0005g0099a0001c0008t0014g0122 | 2 | HG02559.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.-174-14919C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60726340 | ||||||
| chr8:60726394
|
C | T | 166 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(163): Show | 166 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(163): Show |
intron_variant | MODIFIER | c.-174-14865C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60726394 | ||||||
| chr8:60726607
|
C | A | 1 | a0001c0003t0004g0171 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-174-14652C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60726607 | ||||||
| chr8:60726633
|
G | A | 1 | a0001c0032t0028g0174 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.-174-14626G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60726633 | ||||||
| chr8:60726668
|
G | A | 1 | a0001c0001t0016g0105 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.-174-14591G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60726668 | ||||||
| chr8:60726693
|
G | C | 13 | a0001c0001t0012g0102a0001c0001t0012g0112a0001c0001t0013g0100others(10): Show | 13 | HG01069.hp1 HG02109.hp1 HG02145.hp2 others(10): Show |
intron_variant | MODIFIER | c.-174-14566G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60726693 | ||||||
| chr8:60726870
|
A | G | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-174-14389A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60726870 | ||||||
| chr8:60726972
|
C | T | 2 | a0001c0001t0033g0008a0001c0001t0042g0055 | 2 | NA18952.hp2 NA19063.hp1 |
intron_variant | MODIFIER | c.-174-14287C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60726972 | ||||||
| chr8:60727060
|
A | G | 78 | a0001c0001t0002g0125a0001c0001t0002g0131a0001c0001t0004g0036others(75): Show | 78 | HG00099.hp1 HG00642.hp1 HG00673.hp1 others(75): Show |
intron_variant | MODIFIER | c.-174-14199A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60727060 | ||||||
| chr8:60727219
|
A | T | 8 | a0001c0001t0012g0102a0001c0001t0012g0112a0001c0001t0013g0100others(5): Show | 8 | HG01069.hp1 HG02280.hp2 HG02602.hp2 others(5): Show |
intron_variant | MODIFIER | c.-174-14040A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60727219 | ||||||
| chr8:60727283
|
C | G | 1 | a0001c0001t0001g0232 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.-174-13976C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60727283 | ||||||
| chr8:60727316
|
C | T | 56 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(53): Show | 56 | HG00280.hp1 HG00438.hp2 HG00558.hp1 others(53): Show |
intron_variant | MODIFIER | c.-174-13943C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60727316 | ||||||
| chr8:60727326
|
C | G | 2 | a0001c0036t0026g0106a0006c0037t0036g0214 | 2 | HG02145.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.-174-13933C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60727326 | ||||||
| chr8:60727493
|
G | T | 17 | a0001c0001t0009g0224a0001c0001t0009g0225a0001c0001t0012g0097others(14): Show | 17 | HG00099.hp1 HG00735.hp2 HG01070.hp1 others(14): Show |
intron_variant | MODIFIER | c.-174-13766G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60727493 | ||||||
| chr8:60727507
|
G | A | 1 | a0001c0006t0006g0096 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-174-13752G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60727507 | ||||||
| chr8:60727547
|
C | T | 1 | a0001c0001t0002g0207 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.-174-13712C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60727547 | ||||||
| chr8:60727780
|
G | A | 204 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(201): Show | 204 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(201): Show |
intron_variant | MODIFIER | c.-174-13479G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60727780 | ||||||
| chr8:60727908
|
G | T | 1 | a0006c0037t0036g0214 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.-174-13351G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60727908 | ||||||
| chr8:60728092
|
C | T | 2 | a0001c0001t0016g0105a0003c0035t0038g0219 | 2 | HG02886.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.-174-13167C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60728092 | ||||||
| chr8:60728108
|
T | G | 2 | a0001c0036t0026g0106a0006c0037t0036g0214 | 2 | HG02145.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.-174-13151T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60728108 | ||||||
| chr8:60728608
|
G | A | 1 | a0001c0001t0011g0077 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.-174-12651G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60728608 | ||||||
| chr8:60728610
|
G | A | 1 | a0001c0006t0006g0096 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-174-12649G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60728610 | ||||||
| chr8:60728723
|
A | G | 1 | a0001c0033t0001g0010 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.-174-12536A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60728723 | ||||||
| chr8:60729240
|
G | A | 1 | a0003c0035t0038g0219 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.-174-12019G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60729240 | ||||||
| chr8:60729568
|
A | G | 2 | a0001c0001t0014g0221a0001c0001t0039g0220 | 2 | HG00741.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.-174-11691A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60729568 | ||||||
| chr8:60729686
|
C | T | 1 | a0001c0036t0026g0106 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.-174-11573C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60729686 | ||||||
| chr8:60729768
|
C | G | 87 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(84): Show | 87 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(84): Show |
intron_variant | MODIFIER | c.-174-11491C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60729768 | ||||||
| chr8:60730274
|
G | A | 8 | a0001c0001t0012g0102a0001c0001t0012g0112a0001c0001t0013g0100others(5): Show | 8 | HG01069.hp1 HG02280.hp2 HG02602.hp2 others(5): Show |
intron_variant | MODIFIER | c.-174-10985G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60730274 | ||||||
| chr8:60730305
|
A | C | 1 | a0001c0001t0003g0078 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.-174-10954A>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60730305 | ||||||
| chr8:60730390
|
G | T | 1 | a0001c0038t0010g0169 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.-174-10869G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60730390 | ||||||
| chr8:60730447
|
C | T | 1 | a0001c0001t0041g0132 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.-174-10812C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60730447 | ||||||
| chr8:60730464
|
T | G | 2 | a0001c0001t0001g0069a0001c0010t0007g0056 | 2 | HG00741.hp1 NA18993.hp1 |
intron_variant | MODIFIER | c.-174-10795T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60730464 | ||||||
| chr8:60730558
|
G | A | 3 | a0001c0002t0006g0109a0001c0002t0006g0114a0001c0032t0028g0174 | 3 | HG02572.hp2 HG02886.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.-174-10701G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60730558 | ||||||
| chr8:60730638
|
A | G | 1 | a0001c0001t0001g0054 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.-174-10621A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60730638 | ||||||
| chr8:60731171
|
A | G | 1 | a0001c0001t0001g0057 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.-174-10088A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60731171 | ||||||
| chr8:60731218
|
T | G | 1 | a0001c0002t0006g0114 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-174-10041T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60731218 | ||||||
| chr8:60731218
|
T | TAAAG | 232 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(229): Show | 232 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(229): Show |
intron_variant | MODIFIER | c.-174-10037_-174-10 others(10): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60731218 | |||||
| chr8:60731509
|
T | C | 8 | a0001c0001t0012g0102a0001c0001t0012g0112a0001c0001t0013g0100others(5): Show | 8 | HG01069.hp1 HG02280.hp2 HG02602.hp2 others(5): Show |
intron_variant | MODIFIER | c.-174-9750T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60731509 | ||||||
| chr8:60731517
|
C | T | 1 | a0001c0006t0006g0096 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-174-9742C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60731517 | ||||||
| chr8:60731518
|
G | A | 78 | a0001c0001t0002g0125a0001c0001t0002g0131a0001c0001t0004g0036others(75): Show | 78 | HG00099.hp1 HG00642.hp1 HG00673.hp1 others(75): Show |
intron_variant | MODIFIER | c.-174-9741G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60731518 | ||||||
| chr8:60731523
|
C | T | 1 | a0009c0023t0001g0009 | 1 | NA18987.hp2 | intron_variant | MODIFIER | c.-174-9736C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60731523 | ||||||
| chr8:60731547
|
A | G | 1 | a0001c0002t0005g0166 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.-174-9712A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60731547 | ||||||
| chr8:60731662
|
T | G | 1 | a0001c0001t0002g0195 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.-174-9597T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60731662 | ||||||
| chr8:60732027
|
A | C | 2 | a0001c0001t0004g0127a0001c0001t0004g0129 | 2 | NA18986.hp1 NA19070.hp2 |
intron_variant | MODIFIER | c.-174-9232A>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60732027 | ||||||
| chr8:60732141
|
A | G | 13 | a0001c0001t0012g0102a0001c0001t0012g0112a0001c0001t0013g0100others(10): Show | 13 | HG01069.hp1 HG02109.hp1 HG02145.hp2 others(10): Show |
intron_variant | MODIFIER | c.-174-9118A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60732141 | ||||||
| chr8:60732234
|
C | A | 2 | a0001c0001t0001g0006a0001c0001t0001g0025 | 2 | HG02258.hp1 NA19054.hp2 |
intron_variant | MODIFIER | c.-174-9025C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60732234 | ||||||
| chr8:60732289
|
A | G | 1 | a0015c0015t0010g0222 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.-174-8970A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60732289 | ||||||
| chr8:60732835
|
C | G | 1 | a0001c0001t0002g0181 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.-174-8424C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60732835 | ||||||
| chr8:60732866
|
C | G | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-174-8393C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60732866 | ||||||
| chr8:60732882
|
G | A | 2 | a0001c0001t0023g0213a0001c0027t0027g0185 | 2 | NA19030.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.-174-8377G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60732882 | ||||||
| chr8:60733085
|
A | T | 195 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(192): Show | 195 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(192): Show |
intron_variant | MODIFIER | c.-174-8174A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60733085 | ||||||
| chr8:60733228
|
C | A | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-174-8031C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60733228 | ||||||
| chr8:60733237
|
TA | T | 193 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(190): Show | 193 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(190): Show |
intron_variant | MODIFIER | c.-174-8008delA | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60733237 | |||||
| chr8:60733273
|
T | C | 3 | a0001c0002t0006g0109a0001c0002t0006g0114a0001c0032t0028g0174 | 3 | HG02572.hp2 HG02886.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.-174-7986T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60733273 | ||||||
| chr8:60733397
|
G | A | 1 | a0001c0001t0004g0217 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.-174-7862G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60733397 | ||||||
| chr8:60733539
|
T | A | 8 | a0001c0001t0012g0102a0001c0001t0012g0112a0001c0001t0013g0100others(5): Show | 8 | HG01069.hp1 HG02280.hp2 HG02602.hp2 others(5): Show |
intron_variant | MODIFIER | c.-174-7720T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60733539 | ||||||
| chr8:60733644
|
T | G | 1 | a0001c0036t0026g0106 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.-174-7615T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60733644 | ||||||
| chr8:60733645
|
C | T | 28 | a0001c0001t0001g0072a0001c0001t0003g0019a0001c0001t0003g0020others(25): Show | 28 | HG00140.hp2 HG00558.hp2 HG01515.hp2 others(25): Show |
intron_variant | MODIFIER | c.-174-7614C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60733645 | ||||||
| chr8:60733792
|
C | CA | 66 | a0001c0001t0001g0028a0001c0001t0002g0125a0001c0001t0002g0131others(63): Show | 66 | HG00099.hp1 HG00642.hp1 HG00673.hp1 others(63): Show |
intron_variant | MODIFIER | c.-174-7466dupA | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | 60733792 | |||||
| chr8:60733955
|
A | C | 1 | a0001c0006t0006g0096 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-174-7304A>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60733955 | ||||||
| chr8:60734322
|
C | T | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-174-6937C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60734322 | ||||||
| chr8:60734396
|
C | T | 13 | a0001c0001t0012g0102a0001c0001t0012g0112a0001c0001t0013g0100others(10): Show | 13 | HG01069.hp1 HG02109.hp1 HG02145.hp2 others(10): Show |
intron_variant | MODIFIER | c.-174-6863C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60734396 | ||||||
| chr8:60734488
|
C | T | 1 | a0006c0037t0036g0214 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.-174-6771C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60734488 | ||||||
| chr8:60734489
|
A | G | 179 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(176): Show | 179 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(176): Show |
intron_variant | MODIFIER | c.-174-6770A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60734489 | ||||||
| chr8:60734534
|
A | G | 1 | a0001c0006t0006g0096 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-174-6725A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60734534 | ||||||
| chr8:60735062
|
G | A | 1 | a0001c0027t0027g0185 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-174-6197G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60735062 | ||||||
| chr8:60735293
|
C | T | 1 | a0001c0036t0026g0106 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.-174-5966C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60735293 | ||||||
| chr8:60735895
|
T | G | 1 | a0001c0001t0012g0097 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.-174-5364T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60735895 | ||||||
| chr8:60735956
|
A | G | 179 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(176): Show | 179 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(176): Show |
intron_variant | MODIFIER | c.-174-5303A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60735956 | ||||||
| chr8:60735979
|
G | A | 10 | a0001c0003t0004g0107a0001c0003t0004g0108a0001c0003t0004g0171others(7): Show | 10 | HG02055.hp1 HG02559.hp2 HG02818.hp2 others(7): Show |
intron_variant | MODIFIER | c.-174-5280G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60735979 | ||||||
| chr8:60735992
|
C | T | 78 | a0001c0001t0001g0028a0001c0001t0002g0125a0001c0001t0002g0131others(75): Show | 78 | HG00099.hp1 HG00642.hp1 HG00673.hp1 others(75): Show |
intron_variant | MODIFIER | c.-174-5267C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60735992 | ||||||
| chr8:60735994
|
G | A | 1 | a0001c0001t0001g0028 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-174-5265G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60735994 | ||||||
| chr8:60736117
|
C | T | 1 | a0001c0002t0006g0218 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.-174-5142C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60736117 | ||||||
| chr8:60736177
|
G | T | 1 | a0001c0038t0010g0169 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.-174-5082G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60736177 | ||||||
| chr8:60736214
|
A | T | 4 | a0001c0001t0001g0049a0001c0001t0001g0075a0001c0001t0001g0123others(1): Show | 4 | HG01169.hp1 HG01258.hp1 HG04199.hp1 others(1): Show |
intron_variant | MODIFIER | c.-174-5045A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60736214 | ||||||
| chr8:60736266
|
C | G | 13 | a0001c0001t0012g0102a0001c0001t0012g0112a0001c0001t0013g0100others(10): Show | 13 | HG01069.hp1 HG02109.hp1 HG02145.hp2 others(10): Show |
intron_variant | MODIFIER | c.-174-4993C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60736266 | ||||||
| chr8:60736504
|
T | G | 1 | a0001c0002t0005g0111 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.-174-4755T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60736504 | ||||||
| chr8:60736580
|
A | G | 1 | a0001c0001t0002g0182 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.-174-4679A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60736580 | ||||||
| chr8:60736876
|
C | T | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-174-4383C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60736876 | ||||||
| chr8:60737110
|
C | T | 6 | a0001c0001t0009g0226a0001c0001t0009g0227a0001c0001t0009g0228others(3): Show | 6 | HG02922.hp2 HG02970.hp1 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.-174-4149C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60737110 | ||||||
| chr8:60737143
|
G | T | 2 | a0001c0001t0003g0019a0001c0001t0003g0027 | 2 | NA19062.hp1 NA19063.hp2 |
intron_variant | MODIFIER | c.-174-4116G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60737143 | ||||||
| chr8:60737216
|
T | C | 1 | a0001c0036t0026g0106 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.-174-4043T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60737216 | ||||||
| chr8:60737430
|
A | G | 12 | a0001c0001t0023g0213a0001c0003t0004g0107a0001c0003t0004g0108others(9): Show | 12 | HG02055.hp1 HG02559.hp2 HG02818.hp2 others(9): Show |
intron_variant | MODIFIER | c.-174-3829A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60737430 | ||||||
| chr8:60737802
|
A | G | 1 | a0001c0001t0001g0060 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.-174-3457A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60737802 | ||||||
| chr8:60737914
|
A | C | 1 | a0017c0034t0007g0015 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.-174-3345A>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60737914 | ||||||
| chr8:60738034
|
C | A | 8 | a0001c0001t0012g0102a0001c0001t0012g0112a0001c0001t0013g0100others(5): Show | 8 | HG01069.hp1 HG02280.hp2 HG02602.hp2 others(5): Show |
intron_variant | MODIFIER | c.-174-3225C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60738034 | ||||||
| chr8:60738112
|
T | C | 1 | a0001c0001t0001g0151 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.-174-3147T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60738112 | ||||||
| chr8:60738122
|
T | C | 3 | a0001c0001t0043g0039a0001c0001t0045g0128a0001c0001t0046g0138 | 3 | NA18962.hp2 NA18985.hp2 NA19077.hp2 |
intron_variant | MODIFIER | c.-174-3137T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60738122 | ||||||
| chr8:60738196
|
T | C | 6 | a0001c0001t0009g0226a0001c0001t0009g0227a0001c0001t0009g0228others(3): Show | 6 | HG02922.hp2 HG02970.hp1 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.-174-3063T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60738196 | ||||||
| chr8:60738243
|
A | G | 1 | a0001c0001t0001g0093 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.-174-3016A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60738243 | ||||||
| chr8:60738272
|
A | T | 72 | a0001c0001t0001g0028a0001c0001t0002g0125a0001c0001t0002g0131others(69): Show | 72 | HG00099.hp1 HG00642.hp1 HG00673.hp1 others(69): Show |
intron_variant | MODIFIER | c.-174-2987A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60738272 | ||||||
| chr8:60738453
|
A | G | 1 | a0001c0038t0010g0169 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.-174-2806A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60738453 | ||||||
| chr8:60738770
|
G | T | 8 | a0001c0001t0002g0117a0001c0001t0002g0118a0001c0001t0002g0119others(5): Show | 8 | NA18954.hp1 NA18969.hp2 NA18990.hp1 others(5): Show |
intron_variant | MODIFIER | c.-174-2489G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60738770 | ||||||
| chr8:60738839
|
A | G | 13 | a0001c0001t0012g0102a0001c0001t0012g0112a0001c0001t0013g0100others(10): Show | 13 | HG01069.hp1 HG02109.hp1 HG02145.hp2 others(10): Show |
intron_variant | MODIFIER | c.-174-2420A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60738839 | ||||||
| chr8:60738933
|
G | C | 5 | a0001c0001t0014g0221a0001c0001t0014g0233a0001c0001t0017g0231others(2): Show | 5 | HG00741.hp2 HG02280.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.-174-2326G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60738933 | ||||||
| chr8:60739055
|
A | G | 173 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(170): Show | 173 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(170): Show |
intron_variant | MODIFIER | c.-174-2204A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60739055 | ||||||
| chr8:60739148
|
G | A | 86 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(83): Show | 86 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(83): Show |
intron_variant | MODIFIER | c.-174-2111G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60739148 | ||||||
| chr8:60739324
|
C | A | 1 | a0020c0011t0002g0205 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.-174-1935C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60739324 | ||||||
| chr8:60739510
|
T | C | 1 | a0001c0001t0001g0154 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.-174-1749T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60739510 | ||||||
| chr8:60739585
|
G | A | 86 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(83): Show | 86 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(83): Show |
intron_variant | MODIFIER | c.-174-1674G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60739585 | ||||||
| chr8:60739632
|
A | G | 13 | a0001c0001t0012g0102a0001c0001t0012g0112a0001c0001t0013g0100others(10): Show | 13 | HG01069.hp1 HG02109.hp1 HG02145.hp2 others(10): Show |
intron_variant | MODIFIER | c.-174-1627A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60739632 | ||||||
| chr8:60739749
|
C | T | 2 | a0001c0001t0001g0069a0001c0002t0006g0218 | 2 | HG03195.hp2 NA18993.hp1 |
intron_variant | MODIFIER | c.-174-1510C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60739749 | ||||||
| chr8:60739995
|
T | C | 1 | a0001c0001t0007g0223 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-174-1264T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60739995 | ||||||
| chr8:60740403
|
C | T | 1 | a0001c0018t0005g0184 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.-174-856C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60740403 | ||||||
| chr8:60740509
|
G | C | 1 | a0001c0001t0001g0004 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.-174-750G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60740509 | ||||||
| chr8:60740641
|
C | T | 1 | a0001c0001t0001g0123 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.-174-618C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60740641 | ||||||
| chr8:60740675
|
G | A | 1 | a0001c0001t0001g0075 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-174-584G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60740675 | ||||||
| chr8:60740821
|
G | A | 2 | a0001c0001t0009g0224a0001c0001t0009g0225 | 2 | HG01070.hp1 HG01071.hp1 |
intron_variant | MODIFIER | c.-174-438G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60740821 | ||||||
| chr8:60740951
|
G | A | 2 | a0001c0001t0002g0189a0001c0001t0002g0195 | 2 | HG00735.hp1 HG02257.hp2 |
intron_variant | MODIFIER | c.-174-308G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60740951 | ||||||
| chr8:60741037
|
T | C | 9 | a0001c0003t0004g0107a0001c0003t0004g0108a0001c0003t0004g0171others(6): Show | 9 | HG02055.hp1 HG02559.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.-174-222T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60741037 | ||||||
| chr8:60741047
|
C | A | 2 | a0001c0001t0001g0069a0001c0010t0007g0056 | 2 | HG00741.hp1 NA18993.hp1 |
intron_variant | MODIFIER | c.-174-212C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60741047 | ||||||
| chr8:60741103
|
T | C | 2 | a0002c0009t0013g0103a0002c0009t0013g0104 | 2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.-174-156T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | 60741103 | ||||||
| chr8:60743126
|
T | C | 1 | a0001c0001t0014g0233 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.1665+29T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60743126 | ||||||
| chr8:60743131
|
G | A | 179 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(176): Show | 179 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(176): Show |
intron_variant | MODIFIER | c.1665+34G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60743131 | ||||||
| chr8:60743206
|
T | C | 1 | a0001c0002t0006g0218 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1665+109T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60743206 | ||||||
| chr8:60743227
|
T | C | 2 | a0001c0038t0010g0169a0013c0012t0024g0187 | 2 | HG02109.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.1665+130T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60743227 | ||||||
| chr8:60743246
|
T | C | 5 | a0001c0001t0014g0221a0001c0001t0014g0233a0001c0001t0017g0231others(2): Show | 5 | HG00741.hp2 HG02280.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.1665+149T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60743246 | ||||||
| chr8:60743345
|
G | A | 2 | a0001c0001t0001g0075a0001c0001t0044g0001 | 2 | HG04199.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.1665+248G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60743345 | ||||||
| chr8:60743366
|
G | C | 2 | a0001c0002t0005g0164a0001c0002t0005g0165 | 2 | HG01109.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.1665+269G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60743366 | ||||||
| chr8:60743503
|
A | G | 1 | a0001c0003t0004g0186 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.1665+406A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60743503 | ||||||
| chr8:60743644
|
G | A | 1 | a0001c0027t0027g0185 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.1665+547G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60743644 | ||||||
| chr8:60743837
|
A | G | 1 | a0001c0001t0017g0231 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1665+740A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60743837 | ||||||
| chr8:60743952
|
A | C | 87 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(84): Show | 87 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(84): Show |
intron_variant | MODIFIER | c.1665+855A>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60743952 | ||||||
| chr8:60744231
|
A | C | 1 | a0001c0006t0006g0096 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1665+1134A>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60744231 | ||||||
| chr8:60744246
|
T | G | 179 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(176): Show | 179 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(176): Show |
intron_variant | MODIFIER | c.1665+1149T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60744246 | ||||||
| chr8:60744360
|
G | A | 3 | a0001c0002t0006g0109a0001c0002t0006g0114a0001c0032t0028g0174 | 3 | HG02572.hp2 HG02886.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.1665+1263G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60744360 | ||||||
| chr8:60744388
|
A | G | 179 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(176): Show | 179 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(176): Show |
intron_variant | MODIFIER | c.1665+1291A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60744388 | ||||||
| chr8:60744478
|
AT | A | 16 | a0001c0001t0002g0117a0001c0001t0002g0204a0001c0001t0003g0050others(13): Show | 16 | HG01109.hp2 HG01175.hp1 HG01243.hp1 others(13): Show |
intron_variant | MODIFIER | c.1665+1407delT | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr8 | 60744478 | |||||
| chr8:60744478
|
ATT | A | 79 | a0001c0001t0001g0007a0001c0001t0001g0028a0001c0001t0001g0072others(76): Show | 79 | HG00099.hp1 HG00438.hp2 HG00642.hp1 others(76): Show |
intron_variant | MODIFIER | c.1665+1406_1665+140 others(6): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr8 | 60744478 | |||||
| chr8:60744478
|
ATTT | A | 96 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(93): Show | 96 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(93): Show |
intron_variant | MODIFIER | c.1665+1405_1665+140 others(7): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr8 | 60744478 | |||||
| chr8:60744478
|
ATTTT | A | 5 | a0001c0001t0003g0080a0001c0001t0003g0148a0001c0002t0006g0218others(2): Show | 5 | HG00140.hp2 HG02897.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.1665+1404_1665+140 others(8): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr8 | 60744478 | |||||
| chr8:60744478
|
ATTTTTTT others(3): Show |
A | 1 | a0001c0001t0001g0054 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.1665+1398_1665+140 others(14): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr8 | 60744478 | |||||
| chr8:60744478
|
ATTTTTTT others(4): Show |
A | 1 | a0001c0001t0002g0110 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.1665+1397_1665+140 others(15): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr8 | 60744478 | |||||
| chr8:60744514
|
A | G | 166 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(163): Show | 166 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(163): Show |
intron_variant | MODIFIER | c.1665+1417A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60744514 | ||||||
| chr8:60744582
|
A | G | 179 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(176): Show | 179 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(176): Show |
intron_variant | MODIFIER | c.1665+1485A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60744582 | ||||||
| chr8:60744669
|
A | G | 1 | a0001c0006t0006g0096 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1665+1572A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60744669 | ||||||
| chr8:60744818
|
T | G | 179 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(176): Show | 179 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(176): Show |
intron_variant | MODIFIER | c.1665+1721T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60744818 | ||||||
| chr8:60744853
|
TA | T | 191 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(188): Show | 191 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(188): Show |
intron_variant | MODIFIER | c.1665+1769delA | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr8 | 60744853 | |||||
| chr8:60745274
|
A | G | 194 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(191): Show | 194 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(191): Show |
intron_variant | MODIFIER | c.1665+2177A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60745274 | ||||||
| chr8:60745291
|
C | T | 1 | a0001c0001t0023g0213 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1665+2194C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60745291 | ||||||
| chr8:60745305
|
A | G | 1 | a0001c0001t0004g0045 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.1665+2208A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60745305 | ||||||
| chr8:60745514
|
CCTT | C | 86 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(83): Show | 86 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(83): Show |
intron_variant | MODIFIER | c.1665+2421_1665+242 others(7): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr8 | 60745514 | |||||
| chr8:60745528
|
G | A | 166 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(163): Show | 166 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(163): Show |
intron_variant | MODIFIER | c.1665+2431G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60745528 | ||||||
| chr8:60745545
|
C | G | 2 | a0002c0009t0013g0103a0002c0009t0013g0104 | 2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.1665+2448C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60745545 | ||||||
| chr8:60745767
|
G | A | 2 | a0001c0007t0005g0099a0001c0008t0014g0122 | 2 | HG02559.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.1665+2670G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60745767 | ||||||
| chr8:60745803
|
G | A | 166 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(163): Show | 166 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(163): Show |
intron_variant | MODIFIER | c.1665+2706G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60745803 | ||||||
| chr8:60745826
|
G | T | 1 | a0001c0006t0006g0096 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1665+2729G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60745826 | ||||||
| chr8:60745951
|
A | G | 1 | a0001c0001t0001g0054 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.1665+2854A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60745951 | ||||||
| chr8:60746095
|
G | A | 8 | a0001c0001t0012g0102a0001c0001t0012g0112a0001c0001t0013g0100others(5): Show | 8 | HG01069.hp1 HG02280.hp2 HG02602.hp2 others(5): Show |
intron_variant | MODIFIER | c.1665+2998G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60746095 | ||||||
| chr8:60746098
|
A | G | 2 | a0002c0009t0013g0103a0002c0009t0013g0104 | 2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.1665+3001A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60746098 | ||||||
| chr8:60746174
|
C | G | 1 | a0017c0034t0007g0015 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.1665+3077C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60746174 | ||||||
| chr8:60746178
|
C | T | 1 | a0001c0001t0002g0206 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.1665+3081C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60746178 | ||||||
| chr8:60746923
|
G | A | 1 | a0001c0001t0002g0181 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.1665+3826G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60746923 | ||||||
| chr8:60747137
|
C | T | 179 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(176): Show | 179 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(176): Show |
intron_variant | MODIFIER | c.1665+4040C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60747137 | ||||||
| chr8:60747192
|
C | T | 1 | a0013c0012t0024g0187 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1665+4095C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60747192 | ||||||
| chr8:60747393
|
G | A | 1 | a0006c0037t0036g0214 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.1665+4296G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60747393 | ||||||
| chr8:60747451
|
C | T | 1 | a0001c0001t0002g0206 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.1665+4354C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60747451 | ||||||
| chr8:60747455
|
A | G | 1 | a0001c0001t0002g0206 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.1665+4358A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60747455 | ||||||
| chr8:60747604
|
A | G | 79 | a0001c0001t0001g0028a0001c0001t0002g0125a0001c0001t0002g0131others(76): Show | 79 | HG00099.hp1 HG00642.hp1 HG00673.hp1 others(76): Show |
intron_variant | MODIFIER | c.1665+4507A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60747604 | ||||||
| chr8:60747752
|
G | A | 8 | a0001c0001t0012g0102a0001c0001t0012g0112a0001c0001t0013g0100others(5): Show | 8 | HG01069.hp1 HG02280.hp2 HG02602.hp2 others(5): Show |
intron_variant | MODIFIER | c.1665+4655G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60747752 | ||||||
| chr8:60747833
|
A | G | 1 | a0015c0015t0010g0222 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1665+4736A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60747833 | ||||||
| chr8:60748041
|
T | C | 1 | a0001c0006t0006g0096 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1665+4944T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60748041 | ||||||
| chr8:60748323
|
T | C | 1 | a0001c0008t0014g0122 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1665+5226T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60748323 | ||||||
| chr8:60748411
|
G | T | 1 | a0001c0002t0006g0218 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1665+5314G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60748411 | ||||||
| chr8:60748435
|
G | A | 1 | a0001c0001t0015g0137 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.1665+5338G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60748435 | ||||||
| chr8:60748508
|
G | A | 1 | a0001c0001t0002g0131 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.1665+5411G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60748508 | ||||||
| chr8:60748648
|
C | T | 1 | a0001c0001t0001g0004 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1665+5551C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60748648 | ||||||
| chr8:60748881
|
A | G | 179 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(176): Show | 179 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(176): Show |
intron_variant | MODIFIER | c.1665+5784A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60748881 | ||||||
| chr8:60748970
|
AT | A | 25 | a0001c0001t0001g0048a0001c0001t0001g0060a0001c0001t0001g0072others(22): Show | 25 | HG01169.hp2 HG01993.hp2 HG02055.hp1 others(22): Show |
intron_variant | MODIFIER | c.1665+5890delT | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr8 | 60748970 | |||||
| chr8:60748980
|
T | A | 1 | a0001c0006t0006g0096 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1665+5883T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60748980 | ||||||
| chr8:60748981
|
T | A | 1 | a0001c0006t0006g0096 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1665+5884T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60748981 | ||||||
| chr8:60748982
|
T | A | 2 | a0001c0006t0006g0096a0001c0038t0010g0169 | 2 | HG02451.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1665+5885T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60748982 | ||||||
| chr8:60748983
|
T | A | 13 | a0001c0001t0002g0074a0001c0001t0012g0102a0001c0001t0012g0112others(10): Show | 13 | HG01069.hp1 HG02109.hp1 HG02145.hp2 others(10): Show |
intron_variant | MODIFIER | c.1665+5886T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60748983 | ||||||
| chr8:60748984
|
T | A | 20 | a0001c0001t0002g0074a0001c0001t0003g0021a0001c0001t0003g0078others(17): Show | 20 | HG01069.hp1 HG02109.hp1 HG02145.hp2 others(17): Show |
intron_variant | MODIFIER | c.1665+5887T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60748984 | ||||||
| chr8:60748985
|
T | A | 95 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(92): Show | 95 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(92): Show |
intron_variant | MODIFIER | c.1665+5888T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60748985 | ||||||
| chr8:60748986
|
T | A | 178 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(175): Show | 178 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(175): Show |
intron_variant | MODIFIER | c.1665+5889T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60748986 | ||||||
| chr8:60748987
|
T | A | 194 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(191): Show | 194 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(191): Show |
intron_variant | MODIFIER | c.1665+5890T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60748987 | ||||||
| chr8:60748988
|
A | T | 4 | a0001c0001t0002g0182a0001c0001t0002g0201a0001c0001t0002g0209others(1): Show | 4 | HG00140.hp1 HG01258.hp2 HG01993.hp1 others(1): Show |
intron_variant | MODIFIER | c.1665+5891A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60748988 | ||||||
| chr8:60748989
|
A | T | 1 | a0001c0001t0002g0209 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.1665+5892A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60748989 | ||||||
| chr8:60749024
|
A | G | 1 | a0001c0006t0006g0096 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1665+5927A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60749024 | ||||||
| chr8:60749166
|
T | C | 78 | a0001c0001t0002g0125a0001c0001t0002g0131a0001c0001t0004g0036others(75): Show | 78 | HG00099.hp1 HG00642.hp1 HG00673.hp1 others(75): Show |
intron_variant | MODIFIER | c.1665+6069T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60749166 | ||||||
| chr8:60749199
|
T | C | 179 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(176): Show | 179 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(176): Show |
intron_variant | MODIFIER | c.1665+6102T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60749199 | ||||||
| chr8:60749242
|
A | T | 5 | a0001c0001t0014g0221a0001c0001t0014g0233a0001c0001t0017g0231others(2): Show | 5 | HG00741.hp2 HG02280.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.1665+6145A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60749242 | ||||||
| chr8:60749302
|
C | T | 3 | a0001c0001t0018g0194a0001c0001t0018g0197a0001c0001t0040g0177 | 3 | HG02109.hp2 HG02451.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.1665+6205C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60749302 | ||||||
| chr8:60749322
|
G | A | 1 | a0001c0002t0005g0168 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1665+6225G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60749322 | ||||||
| chr8:60749329
|
C | G | 1 | a0001c0027t0027g0185 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.1665+6232C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60749329 | ||||||
| chr8:60749370
|
C | CA | 47 | a0001c0001t0002g0074a0001c0001t0002g0110a0001c0001t0002g0115others(44): Show | 47 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(44): Show |
intron_variant | MODIFIER | c.1665+6297dupA | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr8 | 60749370 | |||||
| chr8:60749370
|
C | CAA | 8 | a0001c0001t0002g0190a0001c0001t0002g0195a0001c0001t0002g0200others(5): Show | 8 | HG00438.hp1 HG00735.hp1 HG03195.hp2 others(5): Show |
intron_variant | MODIFIER | c.1665+6296_1665+629 others(6): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr8 | 60749370 | |||||
| chr8:60749370
|
C | CAAA | 121 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(118): Show | 121 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(118): Show |
intron_variant | MODIFIER | c.1665+6295_1665+629 others(7): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr8 | 60749370 | |||||
| chr8:60749370
|
C | CAAAA | 37 | a0001c0001t0001g0004a0001c0001t0001g0057a0001c0001t0001g0058others(34): Show | 37 | HG00099.hp1 HG00735.hp2 HG00741.hp1 others(34): Show |
intron_variant | MODIFIER | c.1665+6294_1665+629 others(8): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr8 | 60749370 | |||||
| chr8:60749370
|
C | CAAAAA | 17 | a0001c0001t0001g0028a0001c0001t0001g0061a0001c0001t0002g0125others(14): Show | 17 | HG01070.hp1 HG01071.hp1 HG01109.hp2 others(14): Show |
intron_variant | MODIFIER | c.1665+6293_1665+629 others(9): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr8 | 60749370 | |||||
| chr8:60749370
|
CAAAAAAA others(8): Show |
C | 1 | a0001c0001t0008g0124 | 1 | NA18957.hp2 | intron_variant | MODIFIER | c.1665+6283_1665+629 others(19): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr8 | 60749370 | |||||
| chr8:60749397
|
A | G | 13 | a0001c0001t0012g0102a0001c0001t0012g0112a0001c0001t0013g0100others(10): Show | 13 | HG01069.hp1 HG02109.hp1 HG02145.hp2 others(10): Show |
intron_variant | MODIFIER | c.1665+6300A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60749397 | ||||||
| chr8:60749430
|
G | A | 1 | a0001c0001t0012g0097 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.1665+6333G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60749430 | ||||||
| chr8:60749479
|
C | T | 166 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(163): Show | 166 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(163): Show |
intron_variant | MODIFIER | c.1665+6382C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60749479 | ||||||
| chr8:60749565
|
T | G | 1 | a0001c0001t0001g0123 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.1665+6468T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60749565 | ||||||
| chr8:60749603
|
T | TA | 86 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(83): Show | 86 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(83): Show |
intron_variant | MODIFIER | c.1665+6515dupA | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr8 | 60749603 | |||||
| chr8:60749735
|
A | G | 26 | a0001c0001t0009g0224a0001c0001t0009g0225a0001c0001t0012g0097others(23): Show | 26 | HG00099.hp1 HG00735.hp2 HG01070.hp1 others(23): Show |
intron_variant | MODIFIER | c.1665+6638A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60749735 | ||||||
| chr8:60749789
|
T | A | 87 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(84): Show | 87 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(84): Show |
intron_variant | MODIFIER | c.1665+6692T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60749789 | ||||||
| chr8:60750066
|
T | C | 6 | a0001c0001t0009g0226a0001c0001t0009g0227a0001c0001t0009g0228others(3): Show | 6 | HG02922.hp2 HG02970.hp1 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.1665+6969T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60750066 | ||||||
| chr8:60750707
|
G | C | 28 | a0001c0001t0001g0028a0001c0001t0003g0019a0001c0001t0003g0020others(25): Show | 28 | HG00140.hp2 HG00558.hp2 HG01515.hp2 others(25): Show |
intron_variant | MODIFIER | c.1665+7610G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60750707 | ||||||
| chr8:60750952
|
A | G | 1 | a0001c0001t0004g0040 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.1665+7855A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60750952 | ||||||
| chr8:60751022
|
C | T | 8 | a0001c0001t0012g0102a0001c0001t0012g0112a0001c0001t0013g0100others(5): Show | 8 | HG01069.hp1 HG02280.hp2 HG02602.hp2 others(5): Show |
intron_variant | MODIFIER | c.1665+7925C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60751022 | ||||||
| chr8:60751287
|
A | G | 1 | a0001c0002t0006g0218 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1665+8190A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60751287 | ||||||
| chr8:60751655
|
G | A | 87 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(84): Show | 87 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(84): Show |
intron_variant | MODIFIER | c.1665+8558G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60751655 | ||||||
| chr8:60751843
|
G | A | 4 | a0001c0001t0001g0057a0001c0001t0001g0058a0001c0001t0001g0059others(1): Show | 4 | HG01099.hp1 HG01934.hp2 HG01993.hp2 others(1): Show |
intron_variant | MODIFIER | c.1665+8746G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60751843 | ||||||
| chr8:60752071
|
T | G | 2 | a0001c0001t0007g0002a0001c0001t0022g0144 | 2 | HG00642.hp1 HG04199.hp2 |
intron_variant | MODIFIER | c.1665+8974T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60752071 | ||||||
| chr8:60752125
|
G | A | 2 | a0001c0001t0016g0105a0003c0035t0038g0219 | 2 | HG02886.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.1665+9028G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60752125 | ||||||
| chr8:60752471
|
G | A | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1665+9374G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60752471 | ||||||
| chr8:60752496
|
G | A | 2 | a0001c0001t0002g0182a0001c0001t0002g0212 | 2 | HG00140.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.1665+9399G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60752496 | ||||||
| chr8:60753018
|
T | G | 91 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(88): Show | 91 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(88): Show |
intron_variant | MODIFIER | c.1665+9921T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60753018 | ||||||
| chr8:60753218
|
C | G | 13 | a0001c0001t0012g0102a0001c0001t0012g0112a0001c0001t0013g0100others(10): Show | 13 | HG01069.hp1 HG02109.hp1 HG02145.hp2 others(10): Show |
intron_variant | MODIFIER | c.1665+10121C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60753218 | ||||||
| chr8:60753293
|
G | T | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1665+10196G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60753293 | ||||||
| chr8:60753512
|
T | C | 7 | a0001c0001t0007g0002a0001c0001t0007g0042a0001c0001t0007g0141others(4): Show | 7 | HG00642.hp1 HG01081.hp2 HG01928.hp1 others(4): Show |
intron_variant | MODIFIER | c.1665+10415T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60753512 | ||||||
| chr8:60753574
|
A | G | 2 | a0001c0001t0001g0157a0001c0001t0008g0037 | 2 | NA19066.hp1 NA19066.hp2 |
intron_variant | MODIFIER | c.1665+10477A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60753574 | ||||||
| chr8:60753688
|
G | A | 1 | a0001c0001t0001g0028 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.1665+10591G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60753688 | ||||||
| chr8:60754041
|
C | A | 13 | a0001c0001t0012g0102a0001c0001t0012g0112a0001c0001t0013g0100others(10): Show | 13 | HG01069.hp1 HG02109.hp1 HG02145.hp2 others(10): Show |
intron_variant | MODIFIER | c.1665+10944C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60754041 | ||||||
| chr8:60754070
|
G | T | 1 | a0001c0001t0014g0221 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.1665+10973G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60754070 | ||||||
| chr8:60754487
|
C | T | 179 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(176): Show | 179 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(176): Show |
intron_variant | MODIFIER | c.1665+11390C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60754487 | ||||||
| chr8:60754596
|
A | G | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1665+11499A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60754596 | ||||||
| chr8:60754721
|
C | G | 28 | a0001c0001t0001g0028a0001c0001t0003g0019a0001c0001t0003g0020others(25): Show | 28 | HG00140.hp2 HG00558.hp2 HG01515.hp2 others(25): Show |
intron_variant | MODIFIER | c.1665+11624C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60754721 | ||||||
| chr8:60754782
|
G | A | 1 | a0001c0001t0017g0231 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1665+11685G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60754782 | ||||||
| chr8:60754848
|
T | C | 179 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(176): Show | 179 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(176): Show |
intron_variant | MODIFIER | c.1665+11751T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60754848 | ||||||
| chr8:60754857
|
C | T | 1 | a0015c0015t0010g0222 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1665+11760C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60754857 | ||||||
| chr8:60754868
|
G | A | 194 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(191): Show | 194 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(191): Show |
intron_variant | MODIFIER | c.1665+11771G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60754868 | ||||||
| chr8:60754879
|
T | C | 1 | a0001c0001t0007g0223 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1665+11782T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60754879 | ||||||
| chr8:60755040
|
A | G | 1 | a0001c0038t0010g0169 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1665+11943A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60755040 | ||||||
| chr8:60755253
|
G | T | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1665+12156G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60755253 | ||||||
| chr8:60755254
|
C | T | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1665+12157C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60755254 | ||||||
| chr8:60755255
|
A | T | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1665+12158A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60755255 | ||||||
| chr8:60755256
|
G | T | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1665+12159G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60755256 | ||||||
| chr8:60755314
|
A | C | 3 | a0001c0001t0018g0194a0001c0001t0018g0197a0001c0001t0040g0177 | 3 | HG02109.hp2 HG02451.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.1665+12217A>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60755314 | ||||||
| chr8:60755339
|
G | A | 87 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(84): Show | 87 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(84): Show |
intron_variant | MODIFIER | c.1665+12242G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60755339 | ||||||
| chr8:60755362
|
A | T | 179 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(176): Show | 179 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(176): Show |
intron_variant | MODIFIER | c.1665+12265A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60755362 | ||||||
| chr8:60755429
|
C | T | 1 | a0001c0001t0003g0086 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.1665+12332C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60755429 | ||||||
| chr8:60755473
|
G | C | 1 | a0001c0002t0006g0218 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1665+12376G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60755473 | ||||||
| chr8:60755521
|
A | G | 1 | a0001c0001t0012g0097 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.1665+12424A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60755521 | ||||||
| chr8:60755730
|
A | G | 3 | a0001c0001t0014g0221a0001c0001t0017g0231a0001c0001t0039g0220 | 3 | HG00741.hp2 HG02280.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.1665+12633A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60755730 | ||||||
| chr8:60755758
|
G | A | 178 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(175): Show | 178 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(175): Show |
intron_variant | MODIFIER | c.1665+12661G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60755758 | ||||||
| chr8:60755879
|
T | A | 194 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(191): Show | 194 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(191): Show |
intron_variant | MODIFIER | c.1665+12782T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60755879 | ||||||
| chr8:60756300
|
G | C | 1 | a0001c0038t0010g0169 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1665+13203G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60756300 | ||||||
| chr8:60756451
|
T | A | 1 | a0001c0001t0016g0105 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1665+13354T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60756451 | ||||||
| chr8:60756536
|
G | T | 1 | a0001c0002t0006g0156 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.1665+13439G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60756536 | ||||||
| chr8:60756541
|
G | A | 1 | a0001c0002t0006g0234 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.1665+13444G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60756541 | ||||||
| chr8:60756661
|
A | T | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1665+13564A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60756661 | ||||||
| chr8:60756880
|
T | C | 1 | a0001c0002t0006g0218 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1665+13783T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60756880 | ||||||
| chr8:60757035
|
A | G | 1 | a0001c0001t0022g0144 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.1665+13938A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60757035 | ||||||
| chr8:60757407
|
T | A | 4 | a0001c0002t0006g0013a0001c0002t0006g0026a0001c0002t0006g0073others(1): Show | 4 | NA18950.hp1 NA18965.hp2 NA18987.hp1 others(1): Show |
intron_variant | MODIFIER | c.1665+14310T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60757407 | ||||||
| chr8:60757654
|
G | A | 1 | a0001c0006t0006g0096 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1665+14557G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60757654 | ||||||
| chr8:60757749
|
C | T | 179 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(176): Show | 179 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(176): Show |
intron_variant | MODIFIER | c.1665+14652C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60757749 | ||||||
| chr8:60757754
|
A | G | 179 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(176): Show | 179 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(176): Show |
intron_variant | MODIFIER | c.1665+14657A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60757754 | ||||||
| chr8:60757794
|
T | C | 1 | a0001c0002t0006g0109 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1665+14697T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60757794 | ||||||
| chr8:60757917
|
A | G | 77 | a0001c0001t0002g0125a0001c0001t0002g0131a0001c0001t0004g0036others(74): Show | 77 | HG00099.hp1 HG00642.hp1 HG00673.hp1 others(74): Show |
intron_variant | MODIFIER | c.1665+14820A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60757917 | ||||||
| chr8:60757963
|
T | C | 3 | a0001c0002t0006g0109a0001c0002t0006g0114a0001c0032t0028g0174 | 3 | HG02572.hp2 HG02886.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.1665+14866T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60757963 | ||||||
| chr8:60758135
|
T | C | 1 | a0001c0001t0017g0231 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1665+15038T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60758135 | ||||||
| chr8:60758416
|
A | G | 204 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(201): Show | 204 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(201): Show |
intron_variant | MODIFIER | c.1665+15319A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60758416 | ||||||
| chr8:60758434
|
T | C | 1 | a0001c0001t0016g0105 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1665+15337T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60758434 | ||||||
| chr8:60758512
|
G | A | 28 | a0001c0001t0001g0028a0001c0001t0003g0019a0001c0001t0003g0020others(25): Show | 28 | HG00140.hp2 HG00558.hp2 HG01515.hp2 others(25): Show |
intron_variant | MODIFIER | c.1665+15415G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60758512 | ||||||
| chr8:60758711
|
G | C | 1 | a0006c0037t0036g0214 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.1665+15614G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60758711 | ||||||
| chr8:60758938
|
A | C | 1 | a0001c0001t0007g0002 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.1665+15841A>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60758938 | ||||||
| chr8:60758953
|
A | G | 1 | a0001c0038t0010g0169 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1665+15856A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60758953 | ||||||
| chr8:60758961
|
C | T | 179 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(176): Show | 179 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(176): Show |
intron_variant | MODIFIER | c.1665+15864C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60758961 | ||||||
| chr8:60759071
|
A | G | 194 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(191): Show | 194 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(191): Show |
intron_variant | MODIFIER | c.1665+15974A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60759071 | ||||||
| chr8:60759169
|
C | CA | 77 | a0001c0001t0002g0125a0001c0001t0002g0131a0001c0001t0004g0036others(74): Show | 77 | HG00099.hp1 HG00642.hp1 HG00673.hp1 others(74): Show |
intron_variant | MODIFIER | c.1665+16076dupA | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr8 | 60759169 | |||||
| chr8:60759196
|
A | G | 5 | a0001c0002t0006g0013a0001c0002t0006g0026a0001c0002t0006g0073others(2): Show | 5 | NA18950.hp1 NA18965.hp2 NA18987.hp1 others(2): Show |
intron_variant | MODIFIER | c.1665+16099A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60759196 | ||||||
| chr8:60759436
|
G | T | 1 | a0001c0001t0002g0204 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.1665+16339G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60759436 | ||||||
| chr8:60759480
|
C | T | 1 | a0001c0001t0023g0213 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1665+16383C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60759480 | ||||||
| chr8:60759482
|
T | TCTCTCC | 8 | a0001c0001t0002g0074a0001c0003t0004g0107a0001c0003t0004g0108others(5): Show | 8 | HG02055.hp1 HG02559.hp2 HG02818.hp2 others(5): Show |
intron_variant | MODIFIER | c.1665+16407_1665+16 others(12): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr8 | 60759482 | |||||
| chr8:60759482
|
TCTCTCC | T | 15 | a0001c0001t0002g0118a0001c0001t0007g0208a0001c0001t0012g0102others(12): Show | 15 | HG01069.hp1 HG02109.hp1 HG02145.hp2 others(12): Show |
intron_variant | MODIFIER | c.1665+16407_1665+16 others(12): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr8 | 60759482 | |||||
| chr8:60759845
|
C | T | 1 | a0001c0001t0034g0126 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.1665+16748C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60759845 | ||||||
| chr8:60759947
|
A | G | 1 | a0001c0001t0003g0148 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.1665+16850A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60759947 | ||||||
| chr8:60759956
|
A | C | 179 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(176): Show | 179 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(176): Show |
intron_variant | MODIFIER | c.1665+16859A>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60759956 | ||||||
| chr8:60759998
|
G | A | 2 | a0001c0001t0003g0022a0001c0001t0011g0083 | 2 | NA18993.hp2 NA18998.hp1 |
intron_variant | MODIFIER | c.1665+16901G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60759998 | ||||||
| chr8:60760329
|
T | C | 2 | a0001c0001t0004g0139a0001c0001t0031g0140 | 2 | HG02155.hp2 NA18954.hp2 |
intron_variant | MODIFIER | c.1665+17232T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60760329 | ||||||
| chr8:60760552
|
A | G | 1 | a0001c0036t0026g0106 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.1665+17455A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60760552 | ||||||
| chr8:60760564
|
A | G | 1 | a0001c0002t0006g0218 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1665+17467A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60760564 | ||||||
| chr8:60760620
|
C | T | 1 | a0001c0036t0026g0106 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.1665+17523C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60760620 | ||||||
| chr8:60760788
|
A | G | 13 | a0001c0001t0012g0102a0001c0001t0012g0112a0001c0001t0013g0100others(10): Show | 13 | HG01069.hp1 HG02109.hp1 HG02145.hp2 others(10): Show |
intron_variant | MODIFIER | c.1665+17691A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60760788 | ||||||
| chr8:60760929
|
T | G | 1 | a0015c0015t0010g0222 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1665+17832T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60760929 | ||||||
| chr8:60761067
|
C | A | 1 | a0018c0014t0003g0017 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.1665+17970C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60761067 | ||||||
| chr8:60761105
|
A | G | 179 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(176): Show | 179 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(176): Show |
intron_variant | MODIFIER | c.1665+18008A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60761105 | ||||||
| chr8:60761122
|
G | GAA | 7 | a0001c0001t0007g0223a0001c0001t0009g0226a0001c0001t0009g0227others(4): Show | 7 | HG02922.hp2 HG02970.hp1 HG03195.hp1 others(4): Show |
intron_variant | MODIFIER | c.1665+18028_1665+18 others(8): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr8 | 60761122 | |||||
| chr8:60761150
|
T | C | 1 | a0001c0001t0013g0100 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.1665+18053T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60761150 | ||||||
| chr8:60761333
|
G | T | 1 | a0001c0001t0041g0132 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.1665+18236G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60761333 | ||||||
| chr8:60761371
|
C | T | 5 | a0001c0002t0005g0164a0001c0002t0005g0165a0001c0002t0005g0167others(2): Show | 5 | HG01109.hp2 HG01243.hp1 HG02486.hp2 others(2): Show |
intron_variant | MODIFIER | c.1665+18274C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60761371 | ||||||
| chr8:60761500
|
A | T | 1 | a0001c0008t0014g0122 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1665+18403A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60761500 | ||||||
| chr8:60761570
|
A | C | 4 | a0001c0006t0016g0120a0001c0018t0005g0184a0010c0017t0005g0113others(1): Show | 4 | HG02735.hp2 HG03491.hp1 HG03669.hp2 others(1): Show |
intron_variant | MODIFIER | c.1665+18473A>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60761570 | ||||||
| chr8:60761608
|
G | A | 5 | a0001c0001t0014g0221a0001c0001t0014g0233a0001c0001t0017g0231others(2): Show | 5 | HG00741.hp2 HG02280.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.1665+18511G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60761608 | ||||||
| chr8:60761758
|
G | A | 1 | a0001c0001t0012g0097 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.1665+18661G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60761758 | ||||||
| chr8:60761801
|
A | C | 77 | a0001c0001t0002g0125a0001c0001t0002g0131a0001c0001t0004g0036others(74): Show | 77 | HG00099.hp1 HG00642.hp1 HG00673.hp1 others(74): Show |
intron_variant | MODIFIER | c.1665+18704A>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60761801 | ||||||
| chr8:60761821
|
C | T | 2 | a0001c0002t0020g0084a0001c0002t0020g0085 | 2 | HG03490.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.1665+18724C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60761821 | ||||||
| chr8:60761996
|
T | C | 180 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(177): Show | 180 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(177): Show |
intron_variant | MODIFIER | c.1665+18899T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60761996 | ||||||
| chr8:60762087
|
G | A | 26 | a0001c0001t0009g0224a0001c0001t0009g0225a0001c0001t0012g0097others(23): Show | 26 | HG00099.hp1 HG00735.hp2 HG01070.hp1 others(23): Show |
intron_variant | MODIFIER | c.1666-18913G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60762087 | ||||||
| chr8:60762201
|
A | G | 1 | a0004c0029t0008g0150 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.1666-18799A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60762201 | ||||||
| chr8:60762273
|
C | T | 1 | a0001c0001t0002g0115 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.1666-18727C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60762273 | ||||||
| chr8:60762419
|
A | G | 180 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(177): Show | 180 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(177): Show |
intron_variant | MODIFIER | c.1666-18581A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60762419 | ||||||
| chr8:60762583
|
G | A | 1 | a0001c0002t0005g0162 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1666-18417G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60762583 | ||||||
| chr8:60762658
|
A | G | 13 | a0001c0001t0012g0102a0001c0001t0012g0112a0001c0001t0013g0100others(10): Show | 13 | HG01069.hp1 HG02109.hp1 HG02145.hp2 others(10): Show |
intron_variant | MODIFIER | c.1666-18342A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60762658 | ||||||
| chr8:60762753
|
A | G | 1 | a0001c0001t0001g0052 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.1666-18247A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60762753 | ||||||
| chr8:60762902
|
G | A | 180 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(177): Show | 180 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(177): Show |
intron_variant | MODIFIER | c.1666-18098G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60762902 | ||||||
| chr8:60763264
|
T | C | 1 | a0001c0001t0002g0206 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.1666-17736T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60763264 | ||||||
| chr8:60763265
|
G | C | 2 | a0001c0001t0008g0034a0001c0001t0008g0124 | 2 | NA18957.hp2 NA18969.hp1 |
intron_variant | MODIFIER | c.1666-17735G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60763265 | ||||||
| chr8:60763327
|
G | C | 9 | a0001c0003t0004g0107a0001c0003t0004g0108a0001c0003t0004g0171others(6): Show | 9 | HG02055.hp1 HG02559.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.1666-17673G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60763327 | ||||||
| chr8:60763376
|
A | G | 1 | a0001c0024t0004g0146 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.1666-17624A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60763376 | ||||||
| chr8:60763651
|
A | G | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1666-17349A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60763651 | ||||||
| chr8:60763872
|
C | T | 3 | a0001c0002t0006g0109a0001c0002t0006g0114a0001c0032t0028g0174 | 3 | HG02572.hp2 HG02886.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.1666-17128C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60763872 | ||||||
| chr8:60763877
|
C | A | 1 | a0001c0001t0013g0100 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.1666-17123C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60763877 | ||||||
| chr8:60763880
|
G | A | 1 | a0001c0038t0010g0169 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1666-17120G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60763880 | ||||||
| chr8:60763977
|
G | T | 195 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(192): Show | 195 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(192): Show |
intron_variant | MODIFIER | c.1666-17023G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60763977 | ||||||
| chr8:60764040
|
T | A | 1 | a0001c0001t0013g0100 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.1666-16960T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60764040 | ||||||
| chr8:60764100
|
G | A | 13 | a0001c0001t0012g0102a0001c0001t0012g0112a0001c0001t0013g0100others(10): Show | 13 | HG01069.hp1 HG02109.hp1 HG02145.hp2 others(10): Show |
intron_variant | MODIFIER | c.1666-16900G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60764100 | ||||||
| chr8:60764137
|
G | A | 1 | a0001c0001t0015g0130 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.1666-16863G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60764137 | ||||||
| chr8:60764521
|
G | A | 1 | a0001c0036t0026g0106 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.1666-16479G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60764521 | ||||||
| chr8:60765204
|
T | TAC | 34 | a0001c0001t0002g0115a0001c0001t0002g0116a0001c0001t0002g0117others(31): Show | 34 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(31): Show |
intron_variant | MODIFIER | c.1666-15771_1666-15 others(8): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr8 | 60765204 | |||||
| chr8:60765204
|
T | TACAC | 2 | a0001c0001t0002g0110a0001c0001t0002g0196 | 2 | HG01099.hp2 HG01934.hp1 |
intron_variant | MODIFIER | c.1666-15773_1666-15 others(10): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr8 | 60765204 | |||||
| chr8:60765204
|
TAC | T | 16 | a0001c0001t0002g0206a0001c0001t0023g0213a0001c0002t0006g0109others(13): Show | 16 | HG02055.hp1 HG02559.hp2 HG02572.hp2 others(13): Show |
intron_variant | MODIFIER | c.1666-15771_1666-15 others(8): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr8 | 60765204 | |||||
| chr8:60765204
|
TACACACA others(1): Show |
T | 179 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(176): Show | 179 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(176): Show |
intron_variant | MODIFIER | c.1666-15777_1666-15 others(14): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr8 | 60765204 | |||||
| chr8:60765255
|
A | G | 13 | a0001c0001t0012g0102a0001c0001t0012g0112a0001c0001t0013g0100others(10): Show | 13 | HG01069.hp1 HG02109.hp1 HG02145.hp2 others(10): Show |
intron_variant | MODIFIER | c.1666-15745A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60765255 | ||||||
| chr8:60765274
|
TAC | T | 180 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(177): Show | 180 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(177): Show |
intron_variant | MODIFIER | c.1666-15717_1666-15 others(8): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr8 | 60765274 | |||||
| chr8:60765310
|
G | GCA | 180 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(177): Show | 180 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(177): Show |
intron_variant | MODIFIER | c.1666-15688_1666-15 others(8): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr8 | 60765310 | |||||
| chr8:60765333
|
T | TAC | 2 | a0001c0001t0003g0089a0001c0005t0002g0215 | 2 | HG00099.hp2 NA18952.hp1 |
intron_variant | MODIFIER | c.1666-15654_1666-15 others(8): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr8 | 60765333 | |||||
| chr8:60765333
|
TAC | T | 2 | a0002c0009t0013g0103a0002c0009t0013g0104 | 2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.1666-15654_1666-15 others(8): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr8 | 60765333 | |||||
| chr8:60765565
|
G | T | 1 | a0001c0001t0003g0148 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.1666-15435G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60765565 | ||||||
| chr8:60765604
|
G | A | 4 | a0001c0036t0026g0106a0001c0038t0010g0169a0006c0037t0036g0214others(1): Show | 4 | HG02109.hp1 HG02145.hp2 HG02451.hp1 others(1): Show |
intron_variant | MODIFIER | c.1666-15396G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60765604 | ||||||
| chr8:60765760
|
A | G | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1666-15240A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60765760 | ||||||
| chr8:60765771
|
C | T | 26 | a0001c0001t0009g0224a0001c0001t0009g0225a0001c0001t0012g0097others(23): Show | 26 | HG00099.hp1 HG00735.hp2 HG01070.hp1 others(23): Show |
intron_variant | MODIFIER | c.1666-15229C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60765771 | ||||||
| chr8:60766294
|
G | C | 1 | a0001c0007t0035g0160 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1666-14706G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60766294 | ||||||
| chr8:60766424
|
A | G | 1 | a0001c0001t0002g0131 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.1666-14576A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60766424 | ||||||
| chr8:60766434
|
C | T | 78 | a0001c0001t0002g0125a0001c0001t0002g0131a0001c0001t0004g0036others(75): Show | 78 | HG00099.hp1 HG00642.hp1 HG00673.hp1 others(75): Show |
intron_variant | MODIFIER | c.1666-14566C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60766434 | ||||||
| chr8:60766479
|
A | T | 180 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(177): Show | 180 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(177): Show |
intron_variant | MODIFIER | c.1666-14521A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60766479 | ||||||
| chr8:60766749
|
G | T | 2 | a0001c0001t0014g0221a0001c0001t0039g0220 | 2 | HG00741.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1666-14251G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60766749 | ||||||
| chr8:60766807
|
A | G | 1 | a0001c0002t0006g0218 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1666-14193A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60766807 | ||||||
| chr8:60766815
|
T | G | 195 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(192): Show | 195 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(192): Show |
intron_variant | MODIFIER | c.1666-14185T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60766815 | ||||||
| chr8:60766823
|
A | G | 180 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(177): Show | 180 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(177): Show |
intron_variant | MODIFIER | c.1666-14177A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60766823 | ||||||
| chr8:60766827
|
G | A | 1 | a0001c0001t0014g0233 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.1666-14173G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60766827 | ||||||
| chr8:60766835
|
T | C | 1 | a0013c0012t0024g0187 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1666-14165T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60766835 | ||||||
| chr8:60766981
|
G | A | 8 | a0001c0006t0016g0120a0001c0018t0005g0184a0001c0036t0026g0106others(5): Show | 8 | HG02109.hp1 HG02145.hp2 HG02451.hp1 others(5): Show |
intron_variant | MODIFIER | c.1666-14019G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60766981 | ||||||
| chr8:60767390
|
G | C | 180 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(177): Show | 180 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(177): Show |
intron_variant | MODIFIER | c.1666-13610G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60767390 | ||||||
| chr8:60767535
|
C | G | 1 | a0001c0002t0005g0166 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1666-13465C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60767535 | ||||||
| chr8:60767650
|
C | T | 1 | a0001c0001t0001g0004 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1666-13350C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60767650 | ||||||
| chr8:60767683
|
C | T | 2 | a0001c0038t0010g0169a0013c0012t0024g0187 | 2 | HG02109.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.1666-13317C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60767683 | ||||||
| chr8:60767752
|
T | C | 180 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(177): Show | 180 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(177): Show |
intron_variant | MODIFIER | c.1666-13248T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60767752 | ||||||
| chr8:60767782
|
G | A | 180 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(177): Show | 180 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(177): Show |
intron_variant | MODIFIER | c.1666-13218G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60767782 | ||||||
| chr8:60767860
|
C | T | 1 | a0003c0035t0038g0219 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1666-13140C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60767860 | ||||||
| chr8:60767911
|
A | G | 1 | a0001c0007t0035g0160 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1666-13089A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60767911 | ||||||
| chr8:60767965
|
G | A | 1 | a0001c0007t0035g0160 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1666-13035G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60767965 | ||||||
| chr8:60768158
|
C | T | 9 | a0001c0003t0004g0107a0001c0003t0004g0108a0001c0003t0004g0171others(6): Show | 9 | HG02055.hp1 HG02559.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.1666-12842C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60768158 | ||||||
| chr8:60768166
|
C | T | 1 | a0001c0001t0004g0135 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.1666-12834C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60768166 | ||||||
| chr8:60768228
|
T | C | 1 | a0001c0001t0001g0069 | 1 | NA18993.hp1 | intron_variant | MODIFIER | c.1666-12772T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60768228 | ||||||
| chr8:60768236
|
G | A | 1 | a0001c0001t0003g0019 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.1666-12764G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60768236 | ||||||
| chr8:60768535
|
A | C | 1 | a0001c0004t0002g0176 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.1666-12465A>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60768535 | ||||||
| chr8:60768554
|
G | A | 2 | a0001c0001t0049g0029a0001c0002t0005g0168 | 2 | HG02055.hp2 HG02145.hp1 |
intron_variant | MODIFIER | c.1666-12446G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60768554 | ||||||
| chr8:60768617
|
C | A | 1 | a0001c0001t0041g0132 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.1666-12383C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60768617 | ||||||
| chr8:60768743
|
G | A | 7 | a0001c0001t0007g0002a0001c0001t0007g0042a0001c0001t0007g0141others(4): Show | 7 | HG00642.hp1 HG01081.hp2 HG01928.hp1 others(4): Show |
intron_variant | MODIFIER | c.1666-12257G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60768743 | ||||||
| chr8:60768834
|
GA | G | 180 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(177): Show | 180 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(177): Show |
intron_variant | MODIFIER | c.1666-12156delA | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr8 | 60768834 | |||||
| chr8:60768886
|
C | T | 6 | a0001c0003t0004g0107a0001c0003t0004g0108a0001c0003t0004g0171others(3): Show | 6 | HG02055.hp1 HG02818.hp2 HG02897.hp1 others(3): Show |
intron_variant | MODIFIER | c.1666-12114C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60768886 | ||||||
| chr8:60769147
|
A | G | 1 | a0001c0007t0005g0099 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1666-11853A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60769147 | ||||||
| chr8:60769178
|
G | A | 1 | a0001c0010t0011g0159 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.1666-11822G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60769178 | ||||||
| chr8:60769195
|
A | G | 4 | a0001c0006t0016g0120a0001c0018t0005g0184a0010c0017t0005g0113others(1): Show | 4 | HG02735.hp2 HG03491.hp1 HG03669.hp2 others(1): Show |
intron_variant | MODIFIER | c.1666-11805A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60769195 | ||||||
| chr8:60769261
|
A | G | 1 | a0015c0015t0010g0222 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1666-11739A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60769261 | ||||||
| chr8:60769468
|
C | T | 81 | a0001c0001t0002g0125a0001c0001t0002g0131a0001c0001t0004g0036others(78): Show | 81 | HG00099.hp1 HG00642.hp1 HG00673.hp1 others(78): Show |
intron_variant | MODIFIER | c.1666-11532C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60769468 | ||||||
| chr8:60769733
|
A | G | 1 | a0001c0002t0006g0091 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.1666-11267A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60769733 | ||||||
| chr8:60769806
|
C | T | 1 | a0001c0001t0007g0223 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1666-11194C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60769806 | ||||||
| chr8:60770101
|
C | T | 30 | a0001c0001t0002g0125a0001c0001t0002g0131a0001c0001t0004g0036others(27): Show | 30 | HG00673.hp1 HG01175.hp1 HG01255.hp1 others(27): Show |
intron_variant | MODIFIER | c.1666-10899C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60770101 | ||||||
| chr8:60770204
|
T | A | 180 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(177): Show | 180 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(177): Show |
intron_variant | MODIFIER | c.1666-10796T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60770204 | ||||||
| chr8:60770633
|
A | T | 180 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(177): Show | 180 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(177): Show |
intron_variant | MODIFIER | c.1666-10367A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60770633 | ||||||
| chr8:60770748
|
C | G | 1 | a0001c0007t0035g0160 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1666-10252C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60770748 | ||||||
| chr8:60770888
|
A | G | 1 | a0001c0001t0003g0050 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.1666-10112A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60770888 | ||||||
| chr8:60770940
|
C | CTT | 4 | a0001c0006t0016g0120a0001c0018t0005g0184a0010c0017t0005g0113others(1): Show | 4 | HG02735.hp2 HG03491.hp1 HG03669.hp2 others(1): Show |
intron_variant | MODIFIER | c.1666-10058_1666-10 others(8): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr8 | 60770940 | |||||
| chr8:60771017
|
C | A | 1 | a0001c0027t0027g0185 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.1666-9983C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60771017 | ||||||
| chr8:60771214
|
A | G | 1 | a0001c0007t0035g0160 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1666-9786A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60771214 | ||||||
| chr8:60771277
|
G | C | 1 | a0001c0001t0023g0213 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1666-9723G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60771277 | ||||||
| chr8:60771479
|
G | A | 180 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(177): Show | 180 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(177): Show |
intron_variant | MODIFIER | c.1666-9521G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60771479 | ||||||
| chr8:60771671
|
GGGGAGTC | G | 180 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(177): Show | 180 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(177): Show |
intron_variant | MODIFIER | c.1666-9328_1666-932 others(11): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60771671 | ||||||
| chr8:60771680
|
TGA | T | 180 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(177): Show | 180 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(177): Show |
intron_variant | MODIFIER | c.1666-9319_1666-931 others(6): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60771680 | ||||||
| chr8:60771684
|
T | C | 180 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(177): Show | 180 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(177): Show |
intron_variant | MODIFIER | c.1666-9316T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60771684 | ||||||
| chr8:60771685
|
G | A | 180 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(177): Show | 180 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(177): Show |
intron_variant | MODIFIER | c.1666-9315G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60771685 | ||||||
| chr8:60771686
|
G | C | 180 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(177): Show | 180 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(177): Show |
intron_variant | MODIFIER | c.1666-9314G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60771686 | ||||||
| chr8:60771687
|
G | A | 180 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(177): Show | 180 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(177): Show |
intron_variant | MODIFIER | c.1666-9313G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60771687 | ||||||
| chr8:60771690
|
G | A | 180 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(177): Show | 180 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(177): Show |
intron_variant | MODIFIER | c.1666-9310G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60771690 | ||||||
| chr8:60771691
|
G | C | 180 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(177): Show | 180 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(177): Show |
intron_variant | MODIFIER | c.1666-9309G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60771691 | ||||||
| chr8:60771693
|
A | G | 180 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(177): Show | 180 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(177): Show |
intron_variant | MODIFIER | c.1666-9307A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60771693 | ||||||
| chr8:60771699
|
G | T | 1 | a0001c0001t0034g0126 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.1666-9301G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60771699 | ||||||
| chr8:60771941
|
C | T | 171 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(168): Show | 171 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(168): Show |
intron_variant | MODIFIER | c.1666-9059C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60771941 | ||||||
| chr8:60772216
|
C | T | 1 | a0001c0001t0002g0196 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.1666-8784C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60772216 | ||||||
| chr8:60772239
|
C | T | 1 | a0001c0002t0006g0114 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1666-8761C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60772239 | ||||||
| chr8:60772303
|
A | G | 1 | a0001c0002t0006g0218 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1666-8697A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60772303 | ||||||
| chr8:60772362
|
C | T | 4 | a0001c0036t0026g0106a0001c0038t0010g0169a0006c0037t0036g0214others(1): Show | 4 | HG02109.hp1 HG02145.hp2 HG02451.hp1 others(1): Show |
intron_variant | MODIFIER | c.1666-8638C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60772362 | ||||||
| chr8:60772375
|
T | G | 1 | a0001c0001t0001g0057 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1666-8625T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60772375 | ||||||
| chr8:60772482
|
T | C | 1 | a0001c0001t0022g0144 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.1666-8518T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60772482 | ||||||
| chr8:60772566
|
G | A | 171 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(168): Show | 171 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(168): Show |
intron_variant | MODIFIER | c.1666-8434G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60772566 | ||||||
| chr8:60772635
|
C | T | 180 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(177): Show | 180 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(177): Show |
intron_variant | MODIFIER | c.1666-8365C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60772635 | ||||||
| chr8:60772927
|
A | G | 1 | a0001c0001t0016g0105 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1666-8073A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60772927 | ||||||
| chr8:60773039
|
A | G | 1 | a0006c0037t0036g0214 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.1666-7961A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60773039 | ||||||
| chr8:60773152
|
AG | A | 9 | a0001c0002t0006g0013a0001c0002t0006g0026a0001c0002t0006g0073others(6): Show | 9 | HG02818.hp1 HG02896.hp2 HG03041.hp2 others(6): Show |
intron_variant | MODIFIER | c.1666-7842delG | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr8 | 60773152 | |||||
| chr8:60773186
|
C | A | 4 | a0001c0001t0002g0131a0001c0001t0004g0134a0001c0001t0015g0130others(1): Show | 4 | HG01255.hp1 HG03669.hp1 NA20752.hp1 others(1): Show |
intron_variant | MODIFIER | c.1666-7814C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60773186 | ||||||
| chr8:60773321
|
G | A | 2 | a0001c0001t0003g0020a0001c0001t0003g0079 | 2 | HG00558.hp2 NA19000.hp2 |
intron_variant | MODIFIER | c.1666-7679G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60773321 | ||||||
| chr8:60773363
|
C | G | 1 | a0001c0001t0003g0046 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.1666-7637C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60773363 | ||||||
| chr8:60773503
|
T | C | 9 | a0001c0006t0006g0096a0001c0006t0016g0120a0001c0018t0005g0184others(6): Show | 9 | HG02109.hp1 HG02145.hp2 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.1666-7497T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60773503 | ||||||
| chr8:60773686
|
G | A | 1 | a0001c0001t0004g0133 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.1666-7314G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60773686 | ||||||
| chr8:60773836
|
A | G | 1 | a0001c0001t0008g0038 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.1666-7164A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60773836 | ||||||
| chr8:60773837
|
T | C | 1 | a0001c0001t0004g0036 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.1666-7163T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60773837 | ||||||
| chr8:60774516
|
G | A | 78 | a0001c0001t0001g0060a0001c0001t0001g0151a0001c0001t0001g0153others(75): Show | 78 | HG00099.hp1 HG00639.hp1 HG00642.hp1 others(75): Show |
intron_variant | MODIFIER | c.1666-6484G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60774516 | ||||||
| chr8:60774684
|
G | T | 1 | a0001c0005t0002g0193 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.1666-6316G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60774684 | ||||||
| chr8:60774910
|
C | T | 1 | a0001c0036t0026g0106 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.1666-6090C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60774910 | ||||||
| chr8:60775146
|
G | T | 1 | a0001c0002t0006g0114 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1666-5854G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60775146 | ||||||
| chr8:60775332
|
C | CAA | 5 | a0001c0001t0003g0021a0001c0001t0003g0080a0001c0001t0003g0081others(2): Show | 5 | NA18943.hp2 NA18957.hp1 NA18983.hp2 others(2): Show |
intron_variant | MODIFIER | c.1666-5667_1666-566 others(6): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr8 | 60775332 | |||||
| chr8:60775335
|
G | A | 5 | a0001c0001t0003g0021a0001c0001t0003g0080a0001c0001t0003g0081others(2): Show | 5 | NA18943.hp2 NA18957.hp1 NA18983.hp2 others(2): Show |
intron_variant | MODIFIER | c.1666-5665G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60775335 | ||||||
| chr8:60775363
|
T | TAAGCTTA others(43): Show |
87 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(84): Show | 87 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(84): Show |
intron_variant | MODIFIER | c.1666-5637_1666-563 others(54): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60775363 | ||||||
| chr8:60775365
|
C | T | 87 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(84): Show | 87 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(84): Show |
intron_variant | MODIFIER | c.1666-5635C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60775365 | ||||||
| chr8:60775366
|
C | A | 87 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(84): Show | 87 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(84): Show |
intron_variant | MODIFIER | c.1666-5634C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60775366 | ||||||
| chr8:60775458
|
G | A | 1 | a0001c0001t0013g0032 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.1666-5542G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60775458 | ||||||
| chr8:60775485
|
A | G | 3 | a0001c0004t0002g0175a0001c0004t0002g0176a0001c0004t0002g0178 | 3 | HG01192.hp2 NA18747.hp1 NA19002.hp2 |
intron_variant | MODIFIER | c.1666-5515A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60775485 | ||||||
| chr8:60775492
|
A | G | 1 | a0001c0001t0011g0090 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.1666-5508A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60775492 | ||||||
| chr8:60775827
|
G | A | 1 | a0001c0001t0048g0044 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.1666-5173G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60775827 | ||||||
| chr8:60775918
|
C | T | 2 | a0001c0038t0010g0169a0013c0012t0024g0187 | 2 | HG02109.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.1666-5082C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60775918 | ||||||
| chr8:60775933
|
A | AT | 66 | a0001c0001t0002g0125a0001c0001t0002g0131a0001c0001t0004g0036others(63): Show | 66 | HG00099.hp1 HG00642.hp1 HG00673.hp1 others(63): Show |
intron_variant | MODIFIER | c.1666-5061dupT | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr8 | 60775933 | |||||
| chr8:60776405
|
A | G | 1 | a0001c0001t0023g0213 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1666-4595A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60776405 | ||||||
| chr8:60777021
|
A | T | 1 | a0001c0001t0001g0052 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.1666-3979A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60777021 | ||||||
| chr8:60777215
|
G | A | 1 | a0009c0023t0001g0009 | 1 | NA18987.hp2 | intron_variant | MODIFIER | c.1666-3785G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60777215 | ||||||
| chr8:60777536
|
G | T | 1 | a0001c0006t0006g0096 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1666-3464G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60777536 | ||||||
| chr8:60777571
|
G | A | 1 | a0001c0001t0001g0028 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.1666-3429G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60777571 | ||||||
| chr8:60777684
|
G | A | 10 | a0001c0006t0006g0096a0001c0006t0016g0120a0001c0018t0005g0184others(7): Show | 10 | HG02109.hp1 HG02145.hp2 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.1666-3316G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60777684 | ||||||
| chr8:60777762
|
A | G | 184 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(181): Show | 184 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(181): Show |
intron_variant | MODIFIER | c.1666-3238A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60777762 | ||||||
| chr8:60777768
|
A | G | 1 | a0001c0001t0034g0126 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.1666-3232A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60777768 | ||||||
| chr8:60777857
|
G | A | 1 | a0001c0001t0023g0213 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1666-3143G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60777857 | ||||||
| chr8:60778105
|
A | AG | 25 | a0001c0001t0001g0028a0001c0001t0001g0069a0001c0001t0003g0019others(22): Show | 25 | HG00140.hp2 HG00558.hp2 HG01515.hp2 others(22): Show |
intron_variant | MODIFIER | c.1666-2888dupG | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr8 | 60778105 | |||||
| chr8:60778107
|
G | C | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1666-2893G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60778107 | ||||||
| chr8:60778107
|
G | T | 1 | a0001c0001t0014g0233 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.1666-2893G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60778107 | ||||||
| chr8:60778246
|
A | C | 1 | a0001c0001t0009g0226 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1666-2754A>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60778246 | ||||||
| chr8:60778448
|
C | CT | 9 | a0001c0001t0001g0014a0001c0001t0001g0024a0001c0001t0001g0051others(6): Show | 9 | HG00280.hp1 HG01081.hp1 HG01255.hp2 others(6): Show |
intron_variant | MODIFIER | c.1666-2551dupT | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr8 | 60778448 | |||||
| chr8:60778474
|
G | A | 1 | a0001c0001t0001g0060 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.1666-2526G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60778474 | ||||||
| chr8:60778801
|
C | A | 174 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | 174 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(171): Show |
intron_variant | MODIFIER | c.1666-2199C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60778801 | ||||||
| chr8:60778912
|
A | G | 1 | a0001c0001t0012g0097 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.1666-2088A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60778912 | ||||||
| chr8:60779525
|
T | C | 1 | a0001c0007t0035g0160 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1666-1475T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60779525 | ||||||
| chr8:60779609
|
G | A | 4 | a0001c0003t0004g0171a0001c0003t0004g0172a0001c0003t0004g0186others(1): Show | 4 | HG02818.hp2 HG02897.hp1 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.1666-1391G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60779609 | ||||||
| chr8:60779684
|
T | C | 1 | a0001c0021t0012g0031 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.1666-1316T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60779684 | ||||||
| chr8:60779688
|
G | A | 7 | a0001c0001t0012g0102a0001c0001t0012g0112a0001c0001t0013g0100others(4): Show | 7 | HG01069.hp1 HG02109.hp2 HG02280.hp2 others(4): Show |
intron_variant | MODIFIER | c.1666-1312G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60779688 | ||||||
| chr8:60779716
|
T | C | 1 | a0001c0001t0015g0035 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1666-1284T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60779716 | ||||||
| chr8:60779863
|
C | T | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1666-1137C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60779863 | ||||||
| chr8:60780104
|
A | G | 1 | a0001c0038t0010g0169 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1666-896A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60780104 | ||||||
| chr8:60780329
|
T | G | 183 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(180): Show | 183 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(180): Show |
intron_variant | MODIFIER | c.1666-671T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60780329 | ||||||
| chr8:60780593
|
A | T | 85 | a0001c0001t0002g0125a0001c0001t0002g0131a0001c0001t0004g0036others(82): Show | 85 | HG00099.hp1 HG00642.hp1 HG00673.hp1 others(82): Show |
intron_variant | MODIFIER | c.1666-407A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60780593 | ||||||
| chr8:60780755
|
A | G | 1 | a0001c0002t0005g0166 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1666-245A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60780755 | ||||||
| chr8:60780853
|
C | A | 183 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(180): Show | 183 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(180): Show |
intron_variant | MODIFIER | c.1666-147C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | chr8 | 60780853 | ||||||
| chr8:60780897
|
TGAGTATA | T | 53 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(50): Show | 53 | HG00280.hp1 HG00438.hp2 HG00558.hp1 others(50): Show |
intron_variant | MODIFIER | c.1666-100_1666-94de others(8): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr8 | 60780897 | |||||
| chr8:60781593
|
G | T | 1 | a0011c0026t0007g0041 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.2096+163G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60781593 | ||||||
| chr8:60781643
|
T | G | 1 | a0001c0001t0014g0233 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.2096+213T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60781643 | ||||||
| chr8:60782104
|
T | C | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2096+674T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60782104 | ||||||
| chr8:60782146
|
C | T | 1 | a0001c0001t0001g0028 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2096+716C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60782146 | ||||||
| chr8:60782225
|
G | T | 2 | a0001c0001t0001g0014a0001c0001t0001g0076 | 2 | HG03491.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.2096+795G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60782225 | ||||||
| chr8:60782239
|
G | A | 1 | a0001c0003t0004g0107 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.2096+809G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60782239 | ||||||
| chr8:60782362
|
G | T | 1 | a0001c0027t0027g0185 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.2096+932G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60782362 | ||||||
| chr8:60782554
|
A | G | 2 | a0001c0001t0001g0003a0001c0001t0008g0037 | 2 | HG00558.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.2096+1124A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60782554 | ||||||
| chr8:60783146
|
C | G | 89 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(86): Show | 89 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(86): Show |
intron_variant | MODIFIER | c.2096+1716C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60783146 | ||||||
| chr8:60783204
|
A | G | 1 | a0006c0037t0036g0214 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.2096+1774A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60783204 | ||||||
| chr8:60783237
|
G | A | 1 | a0001c0001t0034g0126 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.2096+1807G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60783237 | ||||||
| chr8:60783276
|
T | A | 2 | a0001c0001t0002g0182a0001c0001t0002g0212 | 2 | HG00140.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.2096+1846T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60783276 | ||||||
| chr8:60783378
|
C | G | 10 | a0001c0006t0006g0096a0001c0006t0016g0120a0001c0018t0005g0184others(7): Show | 10 | HG02109.hp1 HG02145.hp2 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.2096+1948C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60783378 | ||||||
| chr8:60783586
|
G | A | 1 | a0001c0002t0006g0156 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.2096+2156G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60783586 | ||||||
| chr8:60783602
|
C | G | 2 | a0001c0001t0007g0145a0001c0001t0007g0147 | 2 | HG02572.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.2096+2172C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60783602 | ||||||
| chr8:60783603
|
C | T | 1 | a0001c0001t0001g0024 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.2096+2173C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60783603 | ||||||
| chr8:60783672
|
G | T | 83 | a0001c0001t0002g0125a0001c0001t0002g0131a0001c0001t0004g0036others(80): Show | 83 | HG00099.hp1 HG00642.hp1 HG00673.hp1 others(80): Show |
intron_variant | MODIFIER | c.2096+2242G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60783672 | ||||||
| chr8:60783895
|
T | C | 1 | a0001c0024t0004g0146 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.2096+2465T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60783895 | ||||||
| chr8:60784099
|
C | T | 1 | a0001c0001t0032g0016 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.2096+2669C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60784099 | ||||||
| chr8:60784128
|
T | C | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2096+2698T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60784128 | ||||||
| chr8:60784732
|
C | A | 1 | a0001c0001t0001g0067 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.2096+3302C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60784732 | ||||||
| chr8:60784969
|
C | A | 1 | a0001c0001t0017g0192 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.2096+3539C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60784969 | ||||||
| chr8:60784978
|
A | G | 1 | a0001c0001t0003g0046 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.2096+3548A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60784978 | ||||||
| chr8:60785038
|
G | A | 5 | a0001c0019t0010g0043a0001c0036t0026g0106a0001c0038t0010g0169others(2): Show | 5 | HG02109.hp1 HG02145.hp2 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.2096+3608G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60785038 | ||||||
| chr8:60785567
|
C | T | 2 | a0001c0002t0006g0218a0001c0008t0014g0122 | 2 | HG02559.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.2096+4137C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60785567 | ||||||
| chr8:60785899
|
A | G | 1 | a0013c0012t0024g0187 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.2096+4469A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60785899 | ||||||
| chr8:60786235
|
C | T | 1 | a0001c0002t0005g0111 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.2096+4805C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60786235 | ||||||
| chr8:60786404
|
A | G | 6 | a0001c0002t0005g0162a0001c0002t0005g0164a0001c0002t0005g0165others(3): Show | 6 | HG01109.hp2 HG01243.hp1 HG02486.hp2 others(3): Show |
intron_variant | MODIFIER | c.2096+4974A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60786404 | ||||||
| chr8:60786424
|
G | A | 7 | a0001c0003t0004g0107a0001c0003t0004g0108a0001c0003t0004g0171others(4): Show | 7 | HG02055.hp1 HG02818.hp2 HG02897.hp1 others(4): Show |
intron_variant | MODIFIER | c.2096+4994G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60786424 | ||||||
| chr8:60786480
|
T | C | 1 | a0001c0001t0034g0126 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.2096+5050T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60786480 | ||||||
| chr8:60786626
|
T | A | 2 | a0002c0009t0013g0103a0002c0009t0013g0104 | 2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.2096+5196T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60786626 | ||||||
| chr8:60786848
|
G | T | 1 | a0001c0001t0008g0037 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.2096+5418G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60786848 | ||||||
| chr8:60786879
|
G | A | 2 | a0001c0001t0009g0224a0001c0001t0009g0225 | 2 | HG01070.hp1 HG01071.hp1 |
intron_variant | MODIFIER | c.2096+5449G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60786879 | ||||||
| chr8:60787080
|
T | C | 28 | a0001c0001t0001g0028a0001c0001t0003g0019a0001c0001t0003g0020others(25): Show | 28 | HG00140.hp2 HG00558.hp2 HG01515.hp2 others(25): Show |
intron_variant | MODIFIER | c.2096+5650T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60787080 | ||||||
| chr8:60787084
|
A | G | 1 | a0013c0012t0024g0187 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.2096+5654A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60787084 | ||||||
| chr8:60787217
|
T | C | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2096+5787T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60787217 | ||||||
| chr8:60787352
|
A | G | 5 | a0001c0002t0005g0164a0001c0002t0005g0165a0001c0002t0005g0167others(2): Show | 5 | HG01109.hp2 HG01243.hp1 HG02486.hp2 others(2): Show |
intron_variant | MODIFIER | c.2096+5922A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60787352 | ||||||
| chr8:60787372
|
G | A | 197 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(194): Show | 197 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(194): Show |
intron_variant | MODIFIER | c.2096+5942G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60787372 | ||||||
| chr8:60787380
|
G | A | 1 | a0001c0001t0003g0047 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.2096+5950G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60787380 | ||||||
| chr8:60787634
|
C | G | 6 | a0001c0003t0004g0107a0001c0003t0004g0108a0001c0003t0004g0171others(3): Show | 6 | HG02055.hp1 HG02818.hp2 HG02897.hp1 others(3): Show |
intron_variant | MODIFIER | c.2096+6204C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60787634 | ||||||
| chr8:60787682
|
C | G | 1 | a0001c0001t0007g0223 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2096+6252C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60787682 | ||||||
| chr8:60787716
|
G | A | 3 | a0001c0001t0018g0194a0001c0001t0018g0197a0001c0001t0040g0177 | 3 | HG02109.hp2 HG02451.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.2096+6286G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60787716 | ||||||
| chr8:60787733
|
T | C | 3 | a0001c0001t0001g0153a0001c0001t0001g0155a0001c0001t0001g0158 | 3 | HG00639.hp1 HG00642.hp2 HG01109.hp1 |
intron_variant | MODIFIER | c.2096+6303T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60787733 | ||||||
| chr8:60787829
|
C | CT | 5 | a0001c0001t0002g0212a0001c0002t0006g0218a0001c0007t0035g0160others(2): Show | 5 | HG01169.hp2 HG02145.hp2 HG02559.hp2 others(2): Show |
intron_variant | MODIFIER | c.2096+6418dupT | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr8 | 60787829 | |||||
| chr8:60787829
|
CT | C | 169 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(166): Show | 169 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(166): Show |
intron_variant | MODIFIER | c.2096+6418delT | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr8 | 60787829 | |||||
| chr8:60787851
|
A | G | 183 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(180): Show | 183 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(180): Show |
intron_variant | MODIFIER | c.2096+6421A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60787851 | ||||||
| chr8:60787908
|
A | G | 1 | a0015c0015t0010g0222 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.2096+6478A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60787908 | ||||||
| chr8:60788088
|
C | A | 10 | a0001c0006t0006g0096a0001c0006t0016g0120a0001c0018t0005g0184others(7): Show | 10 | HG02109.hp1 HG02145.hp2 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.2096+6658C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60788088 | ||||||
| chr8:60788397
|
T | A | 1 | a0001c0001t0011g0077 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.2097-6589T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60788397 | ||||||
| chr8:60788498
|
C | T | 87 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(84): Show | 87 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(84): Show |
intron_variant | MODIFIER | c.2097-6488C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60788498 | ||||||
| chr8:60788542
|
C | G | 2 | a0001c0002t0006g0218a0001c0008t0014g0122 | 2 | HG02559.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.2097-6444C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60788542 | ||||||
| chr8:60788692
|
G | A | 2 | a0001c0002t0020g0084a0001c0002t0020g0085 | 2 | HG03490.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.2097-6294G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60788692 | ||||||
| chr8:60788948
|
T | C | 1 | a0001c0001t0004g0040 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.2097-6038T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60788948 | ||||||
| chr8:60788966
|
G | A | 1 | a0001c0019t0010g0043 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.2097-6020G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60788966 | ||||||
| chr8:60789001
|
A | C | 65 | a0001c0001t0002g0125a0001c0001t0002g0131a0001c0001t0004g0036others(62): Show | 65 | HG00099.hp1 HG00642.hp1 HG00673.hp1 others(62): Show |
intron_variant | MODIFIER | c.2097-5985A>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60789001 | ||||||
| chr8:60789159
|
A | G | 3 | a0001c0002t0006g0109a0001c0002t0006g0114a0001c0032t0028g0174 | 3 | HG02572.hp2 HG02886.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.2097-5827A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60789159 | ||||||
| chr8:60789545
|
C | G | 1 | a0013c0012t0024g0187 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.2097-5441C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60789545 | ||||||
| chr8:60789726
|
A | G | 2 | a0001c0002t0006g0218a0001c0008t0014g0122 | 2 | HG02559.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.2097-5260A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60789726 | ||||||
| chr8:60790015
|
C | T | 1 | a0001c0002t0006g0156 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.2097-4971C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60790015 | ||||||
| chr8:60790016
|
C | T | 1 | a0001c0001t0004g0040 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.2097-4970C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60790016 | ||||||
| chr8:60790284
|
C | T | 172 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(169): Show | 172 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(169): Show |
intron_variant | MODIFIER | c.2097-4702C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60790284 | ||||||
| chr8:60790370
|
A | G | 172 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(169): Show | 172 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(169): Show |
intron_variant | MODIFIER | c.2097-4616A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60790370 | ||||||
| chr8:60790620
|
T | C | 7 | a0001c0003t0004g0107a0001c0003t0004g0108a0001c0003t0004g0171others(4): Show | 7 | HG02055.hp1 HG02818.hp2 HG02897.hp1 others(4): Show |
intron_variant | MODIFIER | c.2097-4366T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60790620 | ||||||
| chr8:60790938
|
C | G | 2 | a0001c0001t0001g0007a0001c0033t0001g0010 | 2 | HG01928.hp2 HG02293.hp2 |
intron_variant | MODIFIER | c.2097-4048C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60790938 | ||||||
| chr8:60791373
|
T | C | 10 | a0001c0006t0006g0096a0001c0006t0016g0120a0001c0018t0005g0184others(7): Show | 10 | HG02109.hp1 HG02145.hp2 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.2097-3613T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60791373 | ||||||
| chr8:60791496
|
C | T | 87 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(84): Show | 87 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(84): Show |
intron_variant | MODIFIER | c.2097-3490C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60791496 | ||||||
| chr8:60791524
|
G | A | 182 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(179): Show | 182 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(179): Show |
intron_variant | MODIFIER | c.2097-3462G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60791524 | ||||||
| chr8:60791657
|
G | A | 1 | a0006c0037t0036g0214 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.2097-3329G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60791657 | ||||||
| chr8:60791661
|
T | C | 1 | a0001c0001t0002g0206 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.2097-3325T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60791661 | ||||||
| chr8:60791816
|
T | A | 1 | a0013c0012t0024g0187 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.2097-3170T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60791816 | ||||||
| chr8:60791910
|
G | C | 2 | a0001c0002t0006g0218a0001c0008t0014g0122 | 2 | HG02559.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.2097-3076G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60791910 | ||||||
| chr8:60791977
|
A | T | 1 | a0001c0001t0004g0040 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.2097-3009A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60791977 | ||||||
| chr8:60791982
|
C | A | 1 | a0001c0001t0032g0016 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.2097-3004C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60791982 | ||||||
| chr8:60792027
|
C | G | 1 | a0001c0006t0006g0096 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2097-2959C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60792027 | ||||||
| chr8:60792258
|
A | G | 197 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(194): Show | 197 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(194): Show |
intron_variant | MODIFIER | c.2097-2728A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60792258 | ||||||
| chr8:60792283
|
A | G | 1 | a0001c0001t0022g0144 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.2097-2703A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60792283 | ||||||
| chr8:60792297
|
A | G | 1 | a0001c0001t0002g0196 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.2097-2689A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60792297 | ||||||
| chr8:60792302
|
G | A | 1 | a0001c0001t0001g0004 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.2097-2684G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60792302 | ||||||
| chr8:60792581
|
G | C | 4 | a0001c0001t0004g0127a0001c0001t0004g0129a0001c0001t0004g0139others(1): Show | 4 | HG02155.hp2 NA18954.hp2 NA18986.hp1 others(1): Show |
intron_variant | MODIFIER | c.2097-2405G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60792581 | ||||||
| chr8:60792602
|
G | A | 1 | a0001c0001t0007g0223 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2097-2384G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60792602 | ||||||
| chr8:60792710
|
A | G | 4 | a0001c0002t0006g0013a0001c0002t0006g0026a0001c0002t0006g0073others(1): Show | 4 | NA18950.hp1 NA18965.hp2 NA18987.hp1 others(1): Show |
intron_variant | MODIFIER | c.2097-2276A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60792710 | ||||||
| chr8:60792752
|
T | C | 182 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(179): Show | 182 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(179): Show |
intron_variant | MODIFIER | c.2097-2234T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60792752 | ||||||
| chr8:60792773
|
C | T | 1 | a0006c0037t0036g0214 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.2097-2213C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60792773 | ||||||
| chr8:60792784
|
C | T | 1 | a0001c0001t0001g0123 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.2097-2202C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60792784 | ||||||
| chr8:60793088
|
G | C | 1 | a0001c0001t0003g0078 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.2097-1898G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60793088 | ||||||
| chr8:60793136
|
T | C | 1 | a0013c0012t0024g0187 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.2097-1850T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60793136 | ||||||
| chr8:60793235
|
C | T | 1 | a0001c0007t0035g0160 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.2097-1751C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60793235 | ||||||
| chr8:60793246
|
AT | A | 11 | a0001c0001t0019g0211a0001c0006t0006g0096a0001c0006t0016g0120others(8): Show | 11 | HG00639.hp2 HG02109.hp1 HG02145.hp2 others(8): Show |
intron_variant | MODIFIER | c.2097-1729delT | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr8 | 60793246 | |||||
| chr8:60793313
|
G | C | 1 | a0001c0008t0014g0122 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.2097-1673G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60793313 | ||||||
| chr8:60793421
|
T | G | 2 | a0001c0001t0001g0006a0001c0001t0001g0025 | 2 | HG02258.hp1 NA19054.hp2 |
intron_variant | MODIFIER | c.2097-1565T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60793421 | ||||||
| chr8:60793548
|
C | G | 7 | a0001c0003t0004g0107a0001c0003t0004g0108a0001c0003t0004g0171others(4): Show | 7 | HG02055.hp1 HG02818.hp2 HG02897.hp1 others(4): Show |
intron_variant | MODIFIER | c.2097-1438C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60793548 | ||||||
| chr8:60793792
|
A | G | 1 | a0001c0001t0003g0087 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.2097-1194A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60793792 | ||||||
| chr8:60793888
|
C | G | 2 | a0001c0001t0002g0195a0017c0034t0007g0015 | 2 | HG00735.hp1 HG01175.hp2 |
intron_variant | MODIFIER | c.2097-1098C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60793888 | ||||||
| chr8:60794046
|
C | T | 5 | a0001c0001t0002g0115a0001c0001t0002g0116a0001c0001t0002g0190others(2): Show | 5 | HG00438.hp1 HG00673.hp2 HG03831.hp1 others(2): Show |
intron_variant | MODIFIER | c.2097-940C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60794046 | ||||||
| chr8:60794194
|
A | G | 10 | a0001c0006t0006g0096a0001c0006t0016g0120a0001c0018t0005g0184others(7): Show | 10 | HG02109.hp1 HG02145.hp2 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.2097-792A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60794194 | ||||||
| chr8:60794266
|
A | G | 1 | a0001c0003t0004g0108 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.2097-720A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60794266 | ||||||
| chr8:60794395
|
A | G | 1 | a0008c0028t0037g0170 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.2097-591A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60794395 | ||||||
| chr8:60794403
|
G | A | 1 | a0001c0001t0001g0011 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.2097-583G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60794403 | ||||||
| chr8:60794640
|
TA | T | 4 | a0001c0006t0016g0120a0001c0018t0005g0184a0010c0017t0005g0113others(1): Show | 4 | HG02735.hp2 HG03491.hp1 HG03669.hp2 others(1): Show |
intron_variant | MODIFIER | c.2097-338delA | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr8 | 60794640 | |||||
| chr8:60794787
|
G | A | 10 | a0001c0006t0006g0096a0001c0006t0016g0120a0001c0018t0005g0184others(7): Show | 10 | HG02109.hp1 HG02145.hp2 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.2097-199G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 3/37 | chr8 | 60794787 | ||||||
| chr8:60795166
|
G | A | 197 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(194): Show | 197 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(194): Show |
intron_variant | MODIFIER | c.2238+39G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60795166 | ||||||
| chr8:60795237
|
A | C | 1 | a0001c0001t0001g0062 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.2238+110A>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60795237 | ||||||
| chr8:60795349
|
A | G | 1 | a0001c0002t0005g0111 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.2238+222A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60795349 | ||||||
| chr8:60795760
|
G | A | 172 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(169): Show | 172 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(169): Show |
intron_variant | MODIFIER | c.2238+633G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60795760 | ||||||
| chr8:60795975
|
G | C | 4 | a0001c0006t0016g0120a0001c0018t0005g0184a0010c0017t0005g0113others(1): Show | 4 | HG02735.hp2 HG03491.hp1 HG03669.hp2 others(1): Show |
intron_variant | MODIFIER | c.2238+848G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60795975 | ||||||
| chr8:60796126
|
T | C | 2 | a0001c0002t0006g0218a0001c0008t0014g0122 | 2 | HG02559.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.2238+999T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60796126 | ||||||
| chr8:60796231
|
G | A | 1 | a0001c0002t0005g0162 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.2238+1104G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60796231 | ||||||
| chr8:60796297
|
C | A | 5 | a0001c0002t0006g0013a0001c0002t0006g0026a0001c0002t0006g0073others(2): Show | 5 | NA18950.hp1 NA18965.hp2 NA18987.hp1 others(2): Show |
intron_variant | MODIFIER | c.2238+1170C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60796297 | ||||||
| chr8:60796333
|
T | C | 198 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(195): Show | 198 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(195): Show |
intron_variant | MODIFIER | c.2238+1206T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60796333 | ||||||
| chr8:60796500
|
G | A | 197 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(194): Show | 197 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(194): Show |
intron_variant | MODIFIER | c.2238+1373G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60796500 | ||||||
| chr8:60796617
|
G | GT | 6 | a0001c0006t0006g0096a0001c0006t0016g0120a0001c0018t0005g0184others(3): Show | 6 | HG01175.hp2 HG02735.hp2 HG03491.hp1 others(3): Show |
intron_variant | MODIFIER | c.2238+1504dupT | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr8 | 60796617 | |||||
| chr8:60796617
|
G | GTT | 5 | a0001c0019t0010g0043a0001c0036t0026g0106a0001c0038t0010g0169others(2): Show | 5 | HG02109.hp1 HG02145.hp2 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.2238+1503_2238+150 others(6): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr8 | 60796617 | |||||
| chr8:60796628
|
T | TC | 171 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(168): Show | 171 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(168): Show |
intron_variant | MODIFIER | c.2238+1501_2238+150 others(5): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60796628 | ||||||
| chr8:60796715
|
G | T | 1 | a0001c0001t0001g0123 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.2238+1588G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60796715 | ||||||
| chr8:60796941
|
A | G | 172 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(169): Show | 172 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(169): Show |
intron_variant | MODIFIER | c.2238+1814A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60796941 | ||||||
| chr8:60797008
|
C | G | 3 | a0001c0002t0006g0109a0001c0002t0006g0114a0001c0032t0028g0174 | 3 | HG02572.hp2 HG02886.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.2238+1881C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60797008 | ||||||
| chr8:60797031
|
G | A | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2238+1904G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60797031 | ||||||
| chr8:60797081
|
A | G | 1 | a0001c0003t0004g0171 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.2238+1954A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60797081 | ||||||
| chr8:60797097
|
T | C | 10 | a0001c0006t0006g0096a0001c0006t0016g0120a0001c0018t0005g0184others(7): Show | 10 | HG02109.hp1 HG02145.hp2 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.2238+1970T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60797097 | ||||||
| chr8:60797263
|
G | A | 1 | a0001c0001t0001g0157 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.2238+2136G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60797263 | ||||||
| chr8:60797539
|
C | A | 1 | a0001c0001t0041g0132 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.2238+2412C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60797539 | ||||||
| chr8:60797605
|
A | G | 2 | a0001c0001t0014g0221a0001c0001t0039g0220 | 2 | HG00741.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.2238+2478A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60797605 | ||||||
| chr8:60797752
|
G | A | 1 | a0001c0002t0005g0167 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.2238+2625G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60797752 | ||||||
| chr8:60797819
|
G | A | 9 | a0001c0006t0016g0120a0001c0018t0005g0184a0001c0019t0010g0043others(6): Show | 9 | HG02109.hp1 HG02145.hp2 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.2239-2569G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60797819 | ||||||
| chr8:60797821
|
A | C | 1 | a0001c0002t0029g0088 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.2239-2567A>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60797821 | ||||||
| chr8:60797868
|
G | C | 1 | a0001c0002t0050g0163 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.2239-2520G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60797868 | ||||||
| chr8:60797913
|
T | C | 1 | a0001c0001t0004g0045 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.2239-2475T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60797913 | ||||||
| chr8:60797996
|
C | T | 1 | a0001c0002t0005g0166 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.2239-2392C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60797996 | ||||||
| chr8:60798205
|
ATC | A | 2 | a0001c0001t0014g0221a0001c0001t0039g0220 | 2 | HG00741.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.2239-2179_2239-217 others(6): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr8 | 60798205 | |||||
| chr8:60798287
|
G | A | 1 | a0001c0001t0009g0228 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.2239-2101G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60798287 | ||||||
| chr8:60798426
|
A | G | 9 | a0001c0001t0002g0181a0001c0001t0002g0189a0001c0001t0002g0195others(6): Show | 9 | HG00099.hp2 HG00280.hp2 HG00735.hp1 others(6): Show |
intron_variant | MODIFIER | c.2239-1962A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60798426 | ||||||
| chr8:60798435
|
A | T | 10 | a0001c0006t0006g0096a0001c0006t0016g0120a0001c0018t0005g0184others(7): Show | 10 | HG02109.hp1 HG02145.hp2 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.2239-1953A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60798435 | ||||||
| chr8:60798494
|
G | A | 1 | a0001c0001t0014g0233 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.2239-1894G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60798494 | ||||||
| chr8:60798577
|
A | G | 9 | a0001c0006t0006g0096a0001c0006t0016g0120a0001c0018t0005g0184others(6): Show | 9 | HG02109.hp1 HG02451.hp1 HG02735.hp2 others(6): Show |
intron_variant | MODIFIER | c.2239-1811A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60798577 | ||||||
| chr8:60798807
|
C | T | 1 | a0001c0001t0023g0213 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2239-1581C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60798807 | ||||||
| chr8:60798925
|
C | T | 182 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(179): Show | 182 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(179): Show |
intron_variant | MODIFIER | c.2239-1463C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60798925 | ||||||
| chr8:60798993
|
T | C | 4 | a0001c0006t0016g0120a0001c0018t0005g0184a0010c0017t0005g0113others(1): Show | 4 | HG02735.hp2 HG03491.hp1 HG03669.hp2 others(1): Show |
intron_variant | MODIFIER | c.2239-1395T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60798993 | ||||||
| chr8:60799098
|
A | G | 1 | a0001c0002t0005g0168 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.2239-1290A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60799098 | ||||||
| chr8:60799631
|
A | G | 1 | a0001c0010t0007g0056 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.2239-757A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60799631 | ||||||
| chr8:60799701
|
TGTTAAAA others(9): Show |
T | 10 | a0001c0006t0006g0096a0001c0006t0016g0120a0001c0018t0005g0184others(7): Show | 10 | HG02109.hp1 HG02145.hp2 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.2239-684_2239-669d others(18): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr8 | 60799701 | |||||
| chr8:60799735
|
A | G | 1 | a0013c0012t0024g0187 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.2239-653A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60799735 | ||||||
| chr8:60799811
|
T | C | 204 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(201): Show | 204 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(201): Show |
intron_variant | MODIFIER | c.2239-577T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60799811 | ||||||
| chr8:60799884
|
G | A | 85 | a0001c0001t0002g0125a0001c0001t0002g0131a0001c0001t0004g0036others(82): Show | 85 | HG00099.hp1 HG00642.hp1 HG00673.hp1 others(82): Show |
intron_variant | MODIFIER | c.2239-504G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60799884 | ||||||
| chr8:60800056
|
A | T | 84 | a0001c0001t0002g0125a0001c0001t0002g0131a0001c0001t0004g0036others(81): Show | 84 | HG00099.hp1 HG00642.hp1 HG00673.hp1 others(81): Show |
intron_variant | MODIFIER | c.2239-332A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60800056 | ||||||
| chr8:60800077
|
C | A | 1 | a0001c0001t0017g0231 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.2239-311C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60800077 | ||||||
| chr8:60800187
|
C | A | 1 | a0014c0030t0016g0033 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.2239-201C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60800187 | ||||||
| chr8:60800225
|
T | G | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2239-163T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60800225 | ||||||
| chr8:60800278
|
C | T | 1 | a0001c0001t0002g0190 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.2239-110C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60800278 | ||||||
| chr8:60800323
|
C | T | 2 | a0001c0001t0002g0117a0001c0001t0002g0202 | 2 | NA18990.hp1 NA19072.hp2 |
intron_variant | MODIFIER | c.2239-65C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 4/37 | chr8 | 60800323 | ||||||
| chr8:60800567
|
A | ATGGACT | 172 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(169): Show | 172 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(169): Show |
intron_variant | MODIFIER | c.2376+43_2376+48dup others(6): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr8 | 60800567 | |||||
| chr8:60800672
|
C | A | 54 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(51): Show | 54 | HG00280.hp1 HG00438.hp2 HG00558.hp1 others(51): Show |
intron_variant | MODIFIER | c.2376+147C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 5/37 | chr8 | 60800672 | ||||||
| chr8:60801120
|
A | G | 5 | a0001c0001t0014g0221a0001c0001t0014g0233a0001c0001t0017g0231others(2): Show | 5 | HG00741.hp2 HG02280.hp1 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.2377-408A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 5/37 | chr8 | 60801120 | ||||||
| chr8:60801124
|
T | C | 1 | a0008c0028t0037g0170 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.2377-404T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 5/37 | chr8 | 60801124 | ||||||
| chr8:60801345
|
T | C | 1 | a0001c0001t0003g0086 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.2377-183T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 5/37 | chr8 | 60801345 | ||||||
| chr8:60801364
|
T | C | 1 | a0001c0001t0001g0011 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.2377-164T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 5/37 | chr8 | 60801364 | ||||||
| chr8:60801686
|
A | G | 204 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(201): Show | 204 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(201): Show |
intron_variant | MODIFIER | c.2442+93A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60801686 | ||||||
| chr8:60801781
|
T | C | 1 | a0001c0001t0034g0126 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.2442+188T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60801781 | ||||||
| chr8:60802035
|
A | G | 1 | a0001c0001t0004g0135 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.2442+442A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60802035 | ||||||
| chr8:60802074
|
G | A | 3 | a0001c0002t0006g0218a0001c0008t0014g0122a0001c0036t0026g0106 | 3 | HG02145.hp2 HG02559.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.2442+481G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60802074 | ||||||
| chr8:60802108
|
A | G | 172 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(169): Show | 172 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(169): Show |
intron_variant | MODIFIER | c.2442+515A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60802108 | ||||||
| chr8:60802175
|
A | C | 1 | a0001c0006t0006g0096 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2442+582A>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60802175 | ||||||
| chr8:60802481
|
G | C | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2442+888G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60802481 | ||||||
| chr8:60802492
|
G | A | 1 | a0001c0001t0007g0143 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.2442+899G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60802492 | ||||||
| chr8:60802979
|
A | T | 1 | a0001c0001t0023g0213 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2442+1386A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60802979 | ||||||
| chr8:60803184
|
A | G | 1 | a0008c0028t0037g0170 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.2442+1591A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60803184 | ||||||
| chr8:60803233
|
A | G | 1 | a0001c0007t0035g0160 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.2442+1640A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60803233 | ||||||
| chr8:60803410
|
T | G | 1 | a0001c0038t0010g0169 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2442+1817T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60803410 | ||||||
| chr8:60803579
|
T | A | 2 | a0002c0009t0013g0103a0002c0009t0013g0104 | 2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.2442+1986T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60803579 | ||||||
| chr8:60803615
|
G | A | 1 | a0001c0001t0004g0040 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.2442+2022G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60803615 | ||||||
| chr8:60803770
|
T | C | 1 | a0001c0006t0006g0096 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2442+2177T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60803770 | ||||||
| chr8:60804079
|
A | G | 6 | a0001c0001t0003g0079a0001c0002t0006g0013a0001c0002t0006g0026others(3): Show | 6 | HG00558.hp2 NA18950.hp1 NA18965.hp2 others(3): Show |
intron_variant | MODIFIER | c.2442+2486A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60804079 | ||||||
| chr8:60804175
|
A | G | 172 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(169): Show | 172 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(169): Show |
intron_variant | MODIFIER | c.2442+2582A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60804175 | ||||||
| chr8:60804340
|
C | CT | 7 | a0001c0001t0012g0102a0001c0001t0012g0112a0001c0001t0013g0100others(4): Show | 7 | HG01069.hp1 HG02109.hp2 HG02280.hp2 others(4): Show |
intron_variant | MODIFIER | c.2442+2757dupT | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr8 | 60804340 | |||||
| chr8:60804387
|
G | A | 1 | a0001c0001t0023g0213 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2442+2794G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60804387 | ||||||
| chr8:60804578
|
A | G | 87 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(84): Show | 87 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(84): Show |
intron_variant | MODIFIER | c.2442+2985A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60804578 | ||||||
| chr8:60804599
|
A | G | 2 | a0001c0001t0001g0069a0001c0010t0007g0056 | 2 | HG00741.hp1 NA18993.hp1 |
intron_variant | MODIFIER | c.2442+3006A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60804599 | ||||||
| chr8:60804603
|
G | A | 1 | a0018c0014t0003g0017 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.2442+3010G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60804603 | ||||||
| chr8:60804617
|
G | A | 2 | a0001c0001t0004g0127a0001c0001t0004g0129 | 2 | NA18986.hp1 NA19070.hp2 |
intron_variant | MODIFIER | c.2442+3024G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60804617 | ||||||
| chr8:60804635
|
T | C | 2 | a0001c0001t0001g0014a0001c0001t0001g0076 | 2 | HG03491.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.2442+3042T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60804635 | ||||||
| chr8:60804699
|
T | C | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2442+3106T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60804699 | ||||||
| chr8:60804733
|
G | A | 1 | a0001c0032t0028g0174 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.2442+3140G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60804733 | ||||||
| chr8:60804819
|
T | C | 3 | a0001c0002t0006g0218a0001c0008t0014g0122a0001c0036t0026g0106 | 3 | HG02145.hp2 HG02559.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.2442+3226T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60804819 | ||||||
| chr8:60805059
|
A | G | 1 | a0008c0028t0037g0170 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.2443-3158A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60805059 | ||||||
| chr8:60805208
|
C | T | 1 | a0001c0001t0001g0149 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.2443-3009C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60805208 | ||||||
| chr8:60805301
|
C | T | 1 | a0008c0028t0037g0170 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.2443-2916C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60805301 | ||||||
| chr8:60805514
|
T | C | 1 | a0001c0001t0003g0027 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.2443-2703T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60805514 | ||||||
| chr8:60805527
|
C | A | 1 | a0001c0002t0005g0098 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.2443-2690C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60805527 | ||||||
| chr8:60805887
|
A | G | 1 | a0001c0001t0034g0126 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.2443-2330A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60805887 | ||||||
| chr8:60805906
|
C | A | 87 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(84): Show | 87 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(84): Show |
intron_variant | MODIFIER | c.2443-2311C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60805906 | ||||||
| chr8:60805956
|
G | A | 1 | a0001c0002t0006g0070 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2443-2261G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60805956 | ||||||
| chr8:60806021
|
C | G | 6 | a0001c0003t0004g0107a0001c0003t0004g0108a0001c0003t0004g0171others(3): Show | 6 | HG02055.hp1 HG02818.hp2 HG02897.hp1 others(3): Show |
intron_variant | MODIFIER | c.2443-2196C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60806021 | ||||||
| chr8:60806052
|
A | G | 5 | a0001c0001t0009g0226a0001c0001t0009g0227a0001c0001t0009g0228others(2): Show | 5 | HG02922.hp2 HG03195.hp1 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.2443-2165A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60806052 | ||||||
| chr8:60806128
|
C | T | 4 | a0001c0002t0006g0013a0001c0002t0006g0026a0001c0002t0006g0073others(1): Show | 4 | NA18950.hp1 NA18965.hp2 NA18987.hp1 others(1): Show |
intron_variant | MODIFIER | c.2443-2089C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60806128 | ||||||
| chr8:60806158
|
T | C | 184 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(181): Show | 184 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(181): Show |
intron_variant | MODIFIER | c.2443-2059T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60806158 | ||||||
| chr8:60806179
|
G | A | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2443-2038G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60806179 | ||||||
| chr8:60806189
|
C | T | 1 | a0001c0001t0013g0100 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.2443-2028C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60806189 | ||||||
| chr8:60806280
|
G | A | 172 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(169): Show | 172 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(169): Show |
intron_variant | MODIFIER | c.2443-1937G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60806280 | ||||||
| chr8:60806289
|
C | T | 84 | a0001c0001t0002g0125a0001c0001t0002g0131a0001c0001t0004g0036others(81): Show | 84 | HG00099.hp1 HG00642.hp1 HG00673.hp1 others(81): Show |
intron_variant | MODIFIER | c.2443-1928C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60806289 | ||||||
| chr8:60806302
|
G | A | 1 | a0001c0001t0004g0040 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.2443-1915G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60806302 | ||||||
| chr8:60806406
|
A | T | 1 | a0001c0005t0002g0215 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.2443-1811A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60806406 | ||||||
| chr8:60806566
|
C | A | 3 | a0001c0004t0002g0175a0001c0004t0002g0176a0001c0004t0002g0178 | 3 | HG01192.hp2 NA18747.hp1 NA19002.hp2 |
intron_variant | MODIFIER | c.2443-1651C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60806566 | ||||||
| chr8:60806727
|
G | A | 1 | a0001c0016t0005g0121 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.2443-1490G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60806727 | ||||||
| chr8:60806780
|
A | G | 9 | a0001c0006t0006g0096a0001c0006t0016g0120a0001c0018t0005g0184others(6): Show | 9 | HG02109.hp1 HG02451.hp1 HG02735.hp2 others(6): Show |
intron_variant | MODIFIER | c.2443-1437A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60806780 | ||||||
| chr8:60806961
|
T | G | 181 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(178): Show | 181 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(178): Show |
intron_variant | MODIFIER | c.2443-1256T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60806961 | ||||||
| chr8:60806990
|
A | G | 7 | a0001c0003t0004g0107a0001c0003t0004g0108a0001c0003t0004g0171others(4): Show | 7 | HG02055.hp1 HG02818.hp2 HG02897.hp1 others(4): Show |
intron_variant | MODIFIER | c.2443-1227A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60806990 | ||||||
| chr8:60807186
|
C | T | 172 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(169): Show | 172 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(169): Show |
intron_variant | MODIFIER | c.2443-1031C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60807186 | ||||||
| chr8:60807279
|
G | A | 3 | a0001c0004t0002g0175a0001c0004t0002g0176a0001c0004t0002g0178 | 3 | HG01192.hp2 NA18747.hp1 NA19002.hp2 |
intron_variant | MODIFIER | c.2443-938G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60807279 | ||||||
| chr8:60807382
|
A | C | 1 | a0001c0001t0001g0005 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.2443-835A>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60807382 | ||||||
| chr8:60807676
|
T | A | 1 | a0001c0002t0005g0162 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.2443-541T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60807676 | ||||||
| chr8:60807803
|
A | C | 1 | a0019c0013t0001g0012 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.2443-414A>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60807803 | ||||||
| chr8:60808195
|
C | T | 1 | a0001c0001t0007g0145 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.2443-22C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 6/37 | chr8 | 60808195 | ||||||
| chr8:60808342
|
T | A | 1 | a0020c0011t0002g0205 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.2498+70T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60808342 | ||||||
| chr8:60808658
|
G | A | 1 | a0001c0001t0008g0037 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.2498+386G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60808658 | ||||||
| chr8:60808780
|
A | C | 1 | a0001c0002t0006g0114 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.2498+508A>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60808780 | ||||||
| chr8:60809480
|
C | T | 2 | a0001c0018t0005g0184a0010c0017t0005g0113 | 2 | HG02735.hp2 HG03491.hp1 |
intron_variant | MODIFIER | c.2498+1208C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60809480 | ||||||
| chr8:60809584
|
C | T | 2 | a0001c0001t0021g0023a0001c0001t0021g0094 | 2 | HG02155.hp1 NA18970.hp2 |
intron_variant | MODIFIER | c.2498+1312C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60809584 | ||||||
| chr8:60809668
|
G | GA | 8 | a0001c0001t0002g0182a0001c0001t0002g0190a0001c0001t0012g0102others(5): Show | 8 | HG00140.hp1 HG00280.hp2 HG00438.hp1 others(5): Show |
intron_variant | MODIFIER | c.2498+1422dupA | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | 60809668 | |||||
| chr8:60809668
|
GA | G | 21 | a0001c0001t0001g0028a0001c0001t0002g0117a0001c0001t0002g0181others(18): Show | 21 | HG00741.hp2 HG01069.hp2 HG01070.hp2 others(18): Show |
intron_variant | MODIFIER | c.2498+1422delA | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | 60809668 | |||||
| chr8:60809668
|
GAA | G | 88 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(85): Show | 88 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(85): Show |
intron_variant | MODIFIER | c.2498+1421_2498+142 others(6): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | 60809668 | |||||
| chr8:60809668
|
GAAAAAAA others(1): Show |
G | 59 | a0001c0001t0002g0125a0001c0001t0002g0131a0001c0001t0004g0036others(56): Show | 59 | HG00099.hp1 HG00642.hp1 HG00735.hp2 others(56): Show |
intron_variant | MODIFIER | c.2498+1415_2498+142 others(12): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | 60809668 | |||||
| chr8:60809668
|
GAAAAAAA others(4): Show |
G | 1 | a0001c0001t0001g0006 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.2498+1412_2498+142 others(15): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | 60809668 | |||||
| chr8:60809686
|
A | G | 57 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(54): Show | 57 | HG00280.hp1 HG00438.hp2 HG00558.hp1 others(54): Show |
intron_variant | MODIFIER | c.2498+1414A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60809686 | ||||||
| chr8:60809688
|
A | G | 1 | a0006c0037t0036g0214 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.2498+1416A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60809688 | ||||||
| chr8:60809689
|
A | G | 2 | a0001c0001t0003g0019a0001c0001t0003g0027 | 2 | NA19062.hp1 NA19063.hp2 |
intron_variant | MODIFIER | c.2498+1417A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60809689 | ||||||
| chr8:60809730
|
C | T | 2 | a0001c0018t0005g0184a0010c0017t0005g0113 | 2 | HG02735.hp2 HG03491.hp1 |
intron_variant | MODIFIER | c.2498+1458C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60809730 | ||||||
| chr8:60809758
|
T | G | 1 | a0001c0038t0010g0169 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2498+1486T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60809758 | ||||||
| chr8:60809993
|
A | G | 84 | a0001c0001t0002g0074a0001c0001t0002g0125a0001c0001t0002g0131others(81): Show | 84 | HG00099.hp1 HG00642.hp1 HG00673.hp1 others(81): Show |
intron_variant | MODIFIER | c.2498+1721A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60809993 | ||||||
| chr8:60810024
|
G | C | 1 | a0016c0031t0003g0018 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.2498+1752G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60810024 | ||||||
| chr8:60810173
|
C | G | 66 | a0001c0001t0002g0125a0001c0001t0002g0131a0001c0001t0004g0036others(63): Show | 66 | HG00099.hp1 HG00642.hp1 HG00673.hp1 others(63): Show |
intron_variant | MODIFIER | c.2498+1901C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60810173 | ||||||
| chr8:60810190
|
A | G | 2 | a0001c0018t0005g0184a0010c0017t0005g0113 | 2 | HG02735.hp2 HG03491.hp1 |
intron_variant | MODIFIER | c.2498+1918A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60810190 | ||||||
| chr8:60810353
|
C | T | 7 | a0001c0006t0006g0096a0001c0018t0005g0184a0001c0019t0010g0043others(4): Show | 7 | HG02109.hp1 HG02451.hp1 HG02735.hp2 others(4): Show |
intron_variant | MODIFIER | c.2498+2081C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60810353 | ||||||
| chr8:60810368
|
G | GGA | 5 | a0001c0001t0001g0067a0001c0001t0002g0117a0001c0001t0002g0202others(2): Show | 5 | HG01515.hp1 HG03688.hp2 NA18990.hp1 others(2): Show |
intron_variant | MODIFIER | c.2498+2108_2498+210 others(6): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | 60810368 | |||||
| chr8:60810368
|
GGA | G | 4 | a0001c0001t0009g0227a0001c0001t0009g0228a0001c0001t0009g0229others(1): Show | 4 | HG03195.hp1 HG03209.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.2498+2108_2498+210 others(6): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | 60810368 | |||||
| chr8:60810380
|
A | AGAGTGTG others(1): Show |
3 | a0001c0001t0003g0046a0001c0001t0003g0047a0001c0001t0003g0148 | 3 | HG00140.hp2 HG01515.hp2 NA20805.hp1 |
intron_variant | MODIFIER | c.2498+2109_2498+211 others(12): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | 60810380 | |||||
| chr8:60810380
|
A | AGT | 9 | a0001c0001t0001g0025a0001c0001t0001g0154a0001c0001t0003g0019others(6): Show | 9 | HG01255.hp1 HG03669.hp2 NA18957.hp2 others(6): Show |
intron_variant | MODIFIER | c.2498+2137_2498+213 others(6): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | 60810380 | |||||
| chr8:60810380
|
A | AGTGT | 4 | a0001c0002t0006g0218a0001c0008t0014g0122a0001c0036t0026g0106others(1): Show | 4 | HG02145.hp2 HG02559.hp2 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.2498+2135_2498+213 others(8): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | 60810380 | |||||
| chr8:60810380
|
A | AGTGTGT | 21 | a0001c0001t0001g0028a0001c0001t0003g0020a0001c0001t0003g0021others(18): Show | 21 | HG00558.hp2 HG02155.hp1 HG02735.hp1 others(18): Show |
intron_variant | MODIFIER | c.2498+2133_2498+213 others(10): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | 60810380 | |||||
| chr8:60810380
|
A | AGTGTGTG others(3): Show |
1 | a0001c0001t0003g0089 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.2498+2129_2498+213 others(14): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | 60810380 | |||||
| chr8:60810380
|
A | T | 1 | a0001c0001t0009g0226 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.2498+2108A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60810380 | ||||||
| chr8:60810380
|
AGT | A | 28 | a0001c0001t0001g0007a0001c0001t0007g0223a0001c0001t0009g0224others(25): Show | 28 | HG00741.hp2 HG01069.hp1 HG01070.hp1 others(25): Show |
intron_variant | MODIFIER | c.2498+2137_2498+213 others(6): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | 60810380 | |||||
| chr8:60810380
|
AGTGT | A | 8 | a0001c0001t0002g0074a0001c0006t0006g0096a0001c0018t0005g0184others(5): Show | 8 | HG02109.hp1 HG02451.hp1 HG02572.hp2 others(5): Show |
intron_variant | MODIFIER | c.2498+2135_2498+213 others(8): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | 60810380 | |||||
| chr8:60810380
|
AGTGTGT | A | 3 | a0001c0001t0023g0213a0001c0002t0006g0109a0001c0002t0006g0114 | 3 | HG02886.hp2 HG03225.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.2498+2133_2498+213 others(10): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | 60810380 | |||||
| chr8:60810382
|
T | A | 18 | a0001c0001t0001g0067a0001c0001t0002g0181a0001c0001t0002g0182others(15): Show | 18 | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(15): Show |
intron_variant | MODIFIER | c.2498+2110T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60810382 | ||||||
| chr8:60810384
|
T | A | 3 | a0001c0001t0002g0189a0001c0001t0002g0195a0017c0034t0007g0015 | 3 | HG00735.hp1 HG01175.hp2 HG02257.hp2 |
intron_variant | MODIFIER | c.2498+2112T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60810384 | ||||||
| chr8:60810434
|
T | A | 2 | a0001c0001t0015g0130a0001c0001t0015g0137 | 2 | NA20752.hp1 NA20805.hp2 |
intron_variant | MODIFIER | c.2498+2162T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60810434 | ||||||
| chr8:60810465
|
C | T | 1 | a0001c0002t0006g0114 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.2498+2193C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60810465 | ||||||
| chr8:60810534
|
G | A | 2 | a0001c0002t0005g0101a0001c0002t0051g0030 | 2 | HG01192.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.2498+2262G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60810534 | ||||||
| chr8:60810552
|
C | T | 1 | a0013c0012t0024g0187 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.2498+2280C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60810552 | ||||||
| chr8:60810639
|
A | G | 6 | a0001c0001t0007g0223a0001c0001t0009g0226a0001c0001t0009g0227others(3): Show | 6 | HG02922.hp2 HG03195.hp1 HG03209.hp1 others(3): Show |
intron_variant | MODIFIER | c.2498+2367A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60810639 | ||||||
| chr8:60810704
|
T | C | 2 | a0001c0001t0001g0005a0001c0001t0001g0048 | 2 | NA18962.hp1 NA19087.hp1 |
intron_variant | MODIFIER | c.2498+2432T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60810704 | ||||||
| chr8:60810931
|
C | G | 6 | a0001c0001t0003g0021a0001c0001t0003g0078a0001c0001t0003g0080others(3): Show | 6 | NA18943.hp2 NA18957.hp1 NA18965.hp1 others(3): Show |
intron_variant | MODIFIER | c.2498+2659C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60810931 | ||||||
| chr8:60810974
|
G | C | 6 | a0001c0001t0003g0021a0001c0001t0003g0078a0001c0001t0003g0080others(3): Show | 6 | NA18943.hp2 NA18957.hp1 NA18965.hp1 others(3): Show |
intron_variant | MODIFIER | c.2498+2702G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60810974 | ||||||
| chr8:60810984
|
G | A | 1 | a0013c0012t0024g0187 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.2498+2712G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60810984 | ||||||
| chr8:60811218
|
C | T | 65 | a0001c0001t0002g0125a0001c0001t0002g0131a0001c0001t0004g0036others(62): Show | 65 | HG00099.hp1 HG00642.hp1 HG00673.hp1 others(62): Show |
intron_variant | MODIFIER | c.2498+2946C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60811218 | ||||||
| chr8:60811532
|
T | C | 1 | a0016c0031t0003g0018 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.2498+3260T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60811532 | ||||||
| chr8:60811657
|
T | C | 7 | a0001c0006t0006g0096a0001c0018t0005g0184a0001c0019t0010g0043others(4): Show | 7 | HG02109.hp1 HG02451.hp1 HG02735.hp2 others(4): Show |
intron_variant | MODIFIER | c.2498+3385T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60811657 | ||||||
| chr8:60811682
|
T | C | 8 | a0001c0001t0007g0002a0001c0001t0007g0042a0001c0001t0007g0141others(5): Show | 8 | HG00642.hp1 HG01081.hp2 HG01928.hp1 others(5): Show |
intron_variant | MODIFIER | c.2498+3410T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60811682 | ||||||
| chr8:60811728
|
CAT | C | 6 | a0001c0003t0004g0107a0001c0003t0004g0108a0001c0003t0004g0171others(3): Show | 6 | HG02055.hp1 HG02818.hp2 HG02897.hp1 others(3): Show |
intron_variant | MODIFIER | c.2498+3457_2498+345 others(6): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60811728 | ||||||
| chr8:60811941
|
G | C | 1 | a0001c0036t0026g0106 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.2498+3669G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60811941 | ||||||
| chr8:60812008
|
C | T | 6 | a0001c0001t0007g0223a0001c0001t0009g0226a0001c0001t0009g0227others(3): Show | 6 | HG02922.hp2 HG03195.hp1 HG03209.hp1 others(3): Show |
intron_variant | MODIFIER | c.2498+3736C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60812008 | ||||||
| chr8:60812091
|
C | A | 1 | a0001c0001t0008g0038 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.2498+3819C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60812091 | ||||||
| chr8:60812147
|
G | A | 2 | a0001c0001t0004g0040a0005c0020t0004g0136 | 2 | NA19009.hp2 NA19088.hp1 |
intron_variant | MODIFIER | c.2498+3875G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60812147 | ||||||
| chr8:60812161
|
A | AT | 5 | a0001c0001t0009g0226a0001c0001t0009g0227a0001c0001t0009g0228others(2): Show | 5 | HG02922.hp2 HG03195.hp1 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.2498+3895dupT | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | 60812161 | |||||
| chr8:60812350
|
T | C | 1 | a0001c0001t0031g0140 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.2499-4037T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60812350 | ||||||
| chr8:60812446
|
C | T | 2 | a0001c0001t0023g0213a0001c0027t0027g0185 | 2 | NA19030.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.2499-3941C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60812446 | ||||||
| chr8:60812483
|
C | T | 9 | a0001c0001t0001g0014a0001c0001t0001g0024a0001c0001t0001g0051others(6): Show | 9 | HG00280.hp1 HG01081.hp1 HG01255.hp2 others(6): Show |
intron_variant | MODIFIER | c.2499-3904C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60812483 | ||||||
| chr8:60812492
|
A | G | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2499-3895A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60812492 | ||||||
| chr8:60812556
|
C | T | 1 | a0001c0001t0001g0093 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.2499-3831C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60812556 | ||||||
| chr8:60812563
|
C | T | 1 | a0001c0001t0007g0223 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2499-3824C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60812563 | ||||||
| chr8:60812578
|
C | T | 1 | a0001c0001t0001g0011 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.2499-3809C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60812578 | ||||||
| chr8:60812579
|
G | A | 1 | a0001c0002t0005g0162 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.2499-3808G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60812579 | ||||||
| chr8:60812662
|
C | CA | 72 | a0001c0001t0002g0116a0001c0001t0002g0125a0001c0001t0002g0131others(69): Show | 72 | HG00099.hp1 HG00642.hp1 HG00673.hp1 others(69): Show |
intron_variant | MODIFIER | c.2499-3708dupA | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | 60812662 | |||||
| chr8:60812662
|
CA | C | 5 | a0001c0002t0006g0218a0001c0008t0010g0236a0001c0008t0014g0122others(2): Show | 5 | HG02145.hp2 HG02451.hp1 HG02559.hp2 others(2): Show |
intron_variant | MODIFIER | c.2499-3708delA | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | 60812662 | |||||
| chr8:60812834
|
G | C | 27 | a0001c0001t0001g0028a0001c0001t0003g0019a0001c0001t0003g0020others(24): Show | 27 | HG00140.hp2 HG00558.hp2 HG01515.hp2 others(24): Show |
intron_variant | MODIFIER | c.2499-3553G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60812834 | ||||||
| chr8:60812897
|
T | A | 2 | a0001c0001t0004g0139a0001c0001t0031g0140 | 2 | HG02155.hp2 NA18954.hp2 |
intron_variant | MODIFIER | c.2499-3490T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60812897 | ||||||
| chr8:60812904
|
C | T | 1 | a0001c0001t0017g0231 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.2499-3483C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60812904 | ||||||
| chr8:60813061
|
C | G | 2 | a0001c0018t0005g0184a0010c0017t0005g0113 | 2 | HG02735.hp2 HG03491.hp1 |
intron_variant | MODIFIER | c.2499-3326C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60813061 | ||||||
| chr8:60813063
|
G | A | 1 | a0001c0019t0010g0043 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.2499-3324G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60813063 | ||||||
| chr8:60813112
|
T | G | 7 | a0001c0006t0006g0096a0001c0018t0005g0184a0001c0019t0010g0043others(4): Show | 7 | HG02109.hp1 HG02451.hp1 HG02735.hp2 others(4): Show |
intron_variant | MODIFIER | c.2499-3275T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60813112 | ||||||
| chr8:60813227
|
A | T | 181 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(178): Show | 181 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(178): Show |
intron_variant | MODIFIER | c.2499-3160A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60813227 | ||||||
| chr8:60813430
|
A | G | 58 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(55): Show | 58 | HG00280.hp1 HG00438.hp2 HG00558.hp1 others(55): Show |
intron_variant | MODIFIER | c.2499-2957A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60813430 | ||||||
| chr8:60813488
|
A | G | 1 | a0001c0002t0005g0098 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.2499-2899A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60813488 | ||||||
| chr8:60813565
|
T | C | 7 | a0001c0006t0006g0096a0001c0018t0005g0184a0001c0019t0010g0043others(4): Show | 7 | HG02109.hp1 HG02451.hp1 HG02735.hp2 others(4): Show |
intron_variant | MODIFIER | c.2499-2822T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60813565 | ||||||
| chr8:60813624
|
A | C | 2 | a0001c0001t0008g0034a0001c0001t0008g0124 | 2 | NA18957.hp2 NA18969.hp1 |
intron_variant | MODIFIER | c.2499-2763A>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60813624 | ||||||
| chr8:60813840
|
A | G | 5 | a0001c0001t0009g0226a0001c0001t0009g0227a0001c0001t0009g0228others(2): Show | 5 | HG02922.hp2 HG03195.hp1 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.2499-2547A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60813840 | ||||||
| chr8:60813863
|
C | T | 1 | a0004c0029t0008g0150 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.2499-2524C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60813863 | ||||||
| chr8:60814213
|
T | A | 2 | a0001c0001t0007g0145a0001c0001t0007g0147 | 2 | HG02572.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.2499-2174T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60814213 | ||||||
| chr8:60814254
|
T | C | 1 | a0001c0001t0003g0027 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.2499-2133T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60814254 | ||||||
| chr8:60814320
|
G | A | 58 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(55): Show | 58 | HG00280.hp1 HG00438.hp2 HG00558.hp1 others(55): Show |
intron_variant | MODIFIER | c.2499-2067G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60814320 | ||||||
| chr8:60814411
|
T | C | 86 | a0001c0001t0002g0074a0001c0001t0002g0125a0001c0001t0002g0131others(83): Show | 86 | HG00099.hp1 HG00642.hp1 HG00673.hp1 others(83): Show |
intron_variant | MODIFIER | c.2499-1976T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60814411 | ||||||
| chr8:60814482
|
G | A | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2499-1905G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60814482 | ||||||
| chr8:60814495
|
G | A | 3 | a0001c0001t0043g0039a0001c0001t0045g0128a0001c0001t0046g0138 | 3 | NA18962.hp2 NA18985.hp2 NA19077.hp2 |
intron_variant | MODIFIER | c.2499-1892G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60814495 | ||||||
| chr8:60814593
|
A | C | 6 | a0001c0001t0007g0223a0001c0001t0009g0226a0001c0001t0009g0227others(3): Show | 6 | HG02922.hp2 HG03195.hp1 HG03209.hp1 others(3): Show |
intron_variant | MODIFIER | c.2499-1794A>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60814593 | ||||||
| chr8:60815028
|
T | G | 87 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(84): Show | 87 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(84): Show |
intron_variant | MODIFIER | c.2499-1359T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60815028 | ||||||
| chr8:60815242
|
A | G | 85 | a0001c0001t0002g0125a0001c0001t0002g0131a0001c0001t0004g0036others(82): Show | 85 | HG00099.hp1 HG00642.hp1 HG00673.hp1 others(82): Show |
intron_variant | MODIFIER | c.2499-1145A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60815242 | ||||||
| chr8:60815244
|
A | G | 7 | a0001c0003t0004g0107a0001c0003t0004g0108a0001c0003t0004g0171others(4): Show | 7 | HG02055.hp1 HG02818.hp2 HG02897.hp1 others(4): Show |
intron_variant | MODIFIER | c.2499-1143A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60815244 | ||||||
| chr8:60815346
|
A | G | 2 | a0001c0001t0004g0127a0001c0001t0004g0129 | 2 | NA18986.hp1 NA19070.hp2 |
intron_variant | MODIFIER | c.2499-1041A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60815346 | ||||||
| chr8:60815350
|
G | A | 87 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(84): Show | 87 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(84): Show |
intron_variant | MODIFIER | c.2499-1037G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60815350 | ||||||
| chr8:60815470
|
A | T | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2499-917A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60815470 | ||||||
| chr8:60815550
|
T | G | 1 | a0001c0038t0010g0169 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2499-837T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60815550 | ||||||
| chr8:60815646
|
G | A | 1 | a0001c0002t0051g0030 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.2499-741G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60815646 | ||||||
| chr8:60815718
|
A | G | 1 | a0001c0005t0002g0193 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.2499-669A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60815718 | ||||||
| chr8:60815765
|
G | A | 1 | a0001c0001t0013g0032 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.2499-622G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60815765 | ||||||
| chr8:60815779
|
C | A | 1 | a0001c0001t0003g0020 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.2499-608C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60815779 | ||||||
| chr8:60816095
|
T | TTGTC | 13 | a0001c0001t0001g0051a0001c0001t0002g0116a0001c0001t0007g0223others(10): Show | 13 | HG00280.hp1 HG00673.hp2 HG02486.hp2 others(10): Show |
intron_variant | MODIFIER | c.2499-274_2499-271d others(6): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | 60816095 | |||||
| chr8:60816095
|
T | TTGTCTGT others(1): Show |
3 | a0001c0001t0009g0227a0001c0001t0009g0228a0001c0001t0014g0233 | 3 | HG02970.hp2 HG03195.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.2499-278_2499-271d others(10): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | 60816095 | |||||
| chr8:60816113
|
G | GTCTC | 2 | a0001c0008t0010g0236a0001c0008t0014g0122 | 2 | HG02559.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.2499-236_2499-233d others(6): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | 60816113 | |||||
| chr8:60816113
|
G | GTCTCTCT others(3): Show |
1 | a0001c0002t0006g0218 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2499-242_2499-233d others(12): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | 60816113 | |||||
| chr8:60816113
|
G | GTCTCTCT others(5): Show |
1 | a0001c0036t0026g0106 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.2499-244_2499-233d others(14): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | 60816113 | |||||
| chr8:60816113
|
G | GTCTCTCT others(7): Show |
1 | a0001c0002t0005g0111 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.2499-246_2499-233d others(16): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | 60816113 | |||||
| chr8:60816113
|
G | GTCTGTC | 4 | a0001c0001t0002g0115a0001c0001t0049g0029a0001c0002t0005g0168others(1): Show | 4 | HG02055.hp2 HG02145.hp1 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.2499-271_2499-270i others(8): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | 60816113 | |||||
| chr8:60816113
|
G | GTCTGTCT others(1): Show |
8 | a0001c0001t0009g0224a0001c0001t0009g0225a0001c0001t0012g0097others(5): Show | 8 | HG01070.hp1 HG01071.hp1 HG02257.hp1 others(5): Show |
intron_variant | MODIFIER | c.2499-271_2499-270i others(10): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | 60816113 | |||||
| chr8:60816113
|
G | GTCTGTCT others(3): Show |
3 | a0001c0001t0002g0190a0001c0001t0013g0032a0001c0019t0010g0043 | 3 | HG00438.hp1 HG02970.hp1 HG03831.hp1 |
intron_variant | MODIFIER | c.2499-271_2499-270i others(12): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | 60816113 | |||||
| chr8:60816113
|
G | GTCTGTCT others(5): Show |
2 | a0001c0001t0009g0226a0001c0007t0005g0099 | 2 | HG02922.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.2499-271_2499-270i others(14): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | 60816113 | |||||
| chr8:60816113
|
G | GTCTGTCT others(3): Show |
4 | a0001c0001t0012g0102a0001c0001t0012g0112a0001c0001t0014g0221others(1): Show | 4 | HG00741.hp2 HG01069.hp1 HG02280.hp2 others(1): Show |
intron_variant | MODIFIER | c.2499-271_2499-270i others(12): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | 60816113 | |||||
| chr8:60816113
|
G | GTCTGTCT others(5): Show |
2 | a0001c0002t0051g0030a0001c0016t0005g0121 | 2 | HG00735.hp2 HG01192.hp1 |
intron_variant | MODIFIER | c.2499-271_2499-270i others(14): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | 60816113 | |||||
| chr8:60816113
|
G | GTCTGTCT others(7): Show |
1 | a0001c0001t0013g0100 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.2499-271_2499-270i others(16): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | 60816113 | |||||
| chr8:60816113
|
G | GTCTGTCT others(13): Show |
1 | a0001c0021t0012g0031 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.2499-271_2499-270i others(22): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | 60816113 | |||||
| chr8:60816113
|
G | GTCTGTCT others(15): Show |
1 | a0015c0015t0010g0222 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.2499-271_2499-270i others(24): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | 60816113 | |||||
| chr8:60816113
|
GTC | G | 42 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(39): Show | 42 | HG00639.hp1 HG00639.hp2 HG00642.hp1 others(39): Show |
intron_variant | MODIFIER | c.2499-234_2499-233d others(4): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | 60816113 | |||||
| chr8:60816113
|
GTCTC | G | 11 | a0001c0001t0001g0093a0001c0001t0002g0118a0001c0001t0002g0119others(8): Show | 11 | HG01192.hp2 HG01255.hp2 HG06807.hp2 others(8): Show |
intron_variant | MODIFIER | c.2499-236_2499-233d others(6): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | 60816113 | |||||
| chr8:60816113
|
GTCTCTCT others(3): Show |
G | 1 | a0001c0001t0003g0027 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.2499-242_2499-233d others(12): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | 60816113 | |||||
| chr8:60816113
|
GTCTCTCT others(5): Show |
G | 27 | a0001c0001t0001g0028a0001c0001t0003g0019a0001c0001t0003g0020others(24): Show | 27 | HG00140.hp2 HG00558.hp2 HG01515.hp2 others(24): Show |
intron_variant | MODIFIER | c.2499-244_2499-233d others(14): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | 60816113 | |||||
| chr8:60816113
|
GTCTCTCT others(7): Show |
G | 8 | a0001c0003t0004g0107a0001c0003t0004g0108a0001c0003t0004g0171others(5): Show | 8 | HG02055.hp1 HG02818.hp2 HG02897.hp1 others(5): Show |
intron_variant | MODIFIER | c.2499-246_2499-233d others(16): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | 60816113 | |||||
| chr8:60816115
|
C | CTG | 17 | a0001c0001t0001g0025a0001c0001t0001g0049a0001c0001t0001g0067others(14): Show | 17 | HG01109.hp2 HG01169.hp1 HG02922.hp1 others(14): Show |
intron_variant | MODIFIER | c.2499-271_2499-270i others(4): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | 60816115 | |||||
| chr8:60816115
|
C | CTGTCTGT others(3): Show |
3 | a0001c0001t0018g0194a0001c0001t0018g0197a0001c0001t0040g0177 | 3 | HG02109.hp2 HG02451.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.2499-271_2499-270i others(12): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | 60816115 | |||||
| chr8:60816117
|
C | G | 54 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0048others(51): Show | 54 | HG00438.hp2 HG00558.hp1 HG00673.hp1 others(51): Show |
intron_variant | MODIFIER | c.2499-270C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60816117 | ||||||
| chr8:60816119
|
C | G | 40 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(37): Show | 40 | HG00639.hp1 HG00642.hp1 HG00642.hp2 others(37): Show |
intron_variant | MODIFIER | c.2499-268C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60816119 | ||||||
| chr8:60816121
|
C | G | 4 | a0001c0001t0001g0093a0001c0001t0002g0074a0001c0002t0006g0091others(1): Show | 4 | HG01255.hp2 HG02572.hp2 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.2499-266C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60816121 | ||||||
| chr8:60816123
|
C | G | 2 | a0001c0001t0001g0069a0001c0001t0016g0105 | 2 | HG02886.hp1 NA18993.hp1 |
intron_variant | MODIFIER | c.2499-264C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60816123 | ||||||
| chr8:60816125
|
C | G | 1 | a0001c0001t0003g0089 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.2499-262C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60816125 | ||||||
| chr8:60816127
|
C | G | 1 | a0001c0001t0003g0027 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.2499-260C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60816127 | ||||||
| chr8:60816129
|
C | G | 27 | a0001c0001t0001g0028a0001c0001t0003g0019a0001c0001t0003g0020others(24): Show | 27 | HG00140.hp2 HG00558.hp2 HG01515.hp2 others(24): Show |
intron_variant | MODIFIER | c.2499-258C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60816129 | ||||||
| chr8:60816131
|
C | G | 8 | a0001c0003t0004g0107a0001c0003t0004g0108a0001c0003t0004g0171others(5): Show | 8 | HG02055.hp1 HG02818.hp2 HG02897.hp1 others(5): Show |
intron_variant | MODIFIER | c.2499-256C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60816131 | ||||||
| chr8:60816208
|
A | G | 1 | a0006c0037t0036g0214 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.2499-179A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60816208 | ||||||
| chr8:60816276
|
G | T | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2499-111G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | chr8 | 60816276 | ||||||
| chr8:60816506
|
G | A | 1 | a0001c0027t0027g0185 | 1 | NA20300.hp1 | splice_region_variant&intron_variant | LOW | c.2613+5G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 8/37 | chr8 | 60816506 | ||||||
| chr8:60816714
|
T | G | 157 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(154): Show | 157 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(154): Show |
intron_variant | MODIFIER | c.2613+213T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 8/37 | chr8 | 60816714 | ||||||
| chr8:60816718
|
G | T | 4 | a0001c0002t0006g0218a0001c0008t0010g0236a0001c0008t0014g0122others(1): Show | 4 | HG02145.hp2 HG02559.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.2613+217G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 8/37 | chr8 | 60816718 | ||||||
| chr8:60816990
|
T | C | 4 | a0001c0002t0006g0218a0001c0008t0010g0236a0001c0008t0014g0122others(1): Show | 4 | HG02145.hp2 HG02559.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.2613+489T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 8/37 | chr8 | 60816990 | ||||||
| chr8:60817425
|
T | C | 3 | a0001c0002t0006g0109a0001c0002t0006g0114a0001c0032t0028g0174 | 3 | HG02572.hp2 HG02886.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.2613+924T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 8/37 | chr8 | 60817425 | ||||||
| chr8:60817597
|
T | G | 230 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(227): Show | 230 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(227): Show |
intron_variant | MODIFIER | c.2613+1096T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 8/37 | chr8 | 60817597 | ||||||
| chr8:60817724
|
T | C | 2 | a0001c0001t0001g0006a0001c0001t0001g0025 | 2 | HG02258.hp1 NA19054.hp2 |
intron_variant | MODIFIER | c.2613+1223T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 8/37 | chr8 | 60817724 | ||||||
| chr8:60817892
|
G | A | 18 | a0001c0001t0007g0223a0001c0001t0009g0226a0001c0001t0009g0227others(15): Show | 18 | HG00741.hp2 HG01069.hp1 HG02109.hp2 others(15): Show |
intron_variant | MODIFIER | c.2613+1391G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 8/37 | chr8 | 60817892 | ||||||
| chr8:60818147
|
G | T | 1 | a0013c0012t0024g0187 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.2613+1646G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 8/37 | chr8 | 60818147 | ||||||
| chr8:60818316
|
G | A | 2 | a0001c0018t0005g0184a0010c0017t0005g0113 | 2 | HG02735.hp2 HG03491.hp1 |
intron_variant | MODIFIER | c.2614-1691G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 8/37 | chr8 | 60818316 | ||||||
| chr8:60818336
|
GA | G | 4 | a0001c0019t0010g0043a0001c0038t0010g0169a0006c0037t0036g0214others(1): Show | 4 | HG02109.hp1 HG02451.hp1 HG02970.hp1 others(1): Show |
intron_variant | MODIFIER | c.2614-1670delA | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 8/37 | chr8 | 60818336 | ||||||
| chr8:60818465
|
G | A | 1 | a0001c0001t0002g0131 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.2614-1542G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 8/37 | chr8 | 60818465 | ||||||
| chr8:60818514
|
C | A | 179 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(176): Show | 179 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(176): Show |
intron_variant | MODIFIER | c.2614-1493C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 8/37 | chr8 | 60818514 | ||||||
| chr8:60818522
|
A | G | 1 | a0001c0002t0006g0114 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.2614-1485A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 8/37 | chr8 | 60818522 | ||||||
| chr8:60818554
|
A | T | 2 | a0001c0001t0023g0213a0001c0027t0027g0185 | 2 | NA19030.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.2614-1453A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 8/37 | chr8 | 60818554 | ||||||
| chr8:60818584
|
AT | A | 4 | a0001c0002t0006g0218a0001c0008t0010g0236a0001c0008t0014g0122others(1): Show | 4 | HG02145.hp2 HG02559.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.2614-1414delT | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr8 | 60818584 | |||||
| chr8:60818661
|
T | A | 1 | a0001c0001t0002g0161 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.2614-1346T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 8/37 | chr8 | 60818661 | ||||||
| chr8:60818699
|
G | A | 157 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(154): Show | 157 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(154): Show |
intron_variant | MODIFIER | c.2614-1308G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 8/37 | chr8 | 60818699 | ||||||
| chr8:60818723
|
A | G | 233 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(230): Show | 233 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(230): Show |
intron_variant | MODIFIER | c.2614-1284A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 8/37 | chr8 | 60818723 | ||||||
| chr8:60818798
|
G | A | 1 | a0001c0001t0002g0161 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.2614-1209G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 8/37 | chr8 | 60818798 | ||||||
| chr8:60818910
|
T | A | 2 | a0001c0018t0005g0184a0010c0017t0005g0113 | 2 | HG02735.hp2 HG03491.hp1 |
intron_variant | MODIFIER | c.2614-1097T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 8/37 | chr8 | 60818910 | ||||||
| chr8:60818914
|
A | G | 1 | a0001c0001t0023g0213 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2614-1093A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 8/37 | chr8 | 60818914 | ||||||
| chr8:60819382
|
G | A | 2 | a0001c0018t0005g0184a0010c0017t0005g0113 | 2 | HG02735.hp2 HG03491.hp1 |
intron_variant | MODIFIER | c.2614-625G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 8/37 | chr8 | 60819382 | ||||||
| chr8:60819595
|
C | T | 1 | a0001c0001t0017g0192 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.2614-412C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 8/37 | chr8 | 60819595 | ||||||
| chr8:60819742
|
A | T | 1 | a0001c0001t0003g0087 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.2614-265A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 8/37 | chr8 | 60819742 | ||||||
| chr8:60819802
|
C | A | 1 | a0001c0001t0048g0044 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.2614-205C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 8/37 | chr8 | 60819802 | ||||||
| chr8:60819846
|
A | C | 1 | a0001c0001t0004g0045 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.2614-161A>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 8/37 | chr8 | 60819846 | ||||||
| chr8:60819959
|
C | G | 3 | a0001c0001t0018g0194a0001c0001t0018g0197a0001c0001t0040g0177 | 3 | HG02109.hp2 HG02451.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.2614-48C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 8/37 | chr8 | 60819959 | ||||||
| chr8:60819962
|
A | G | 179 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(176): Show | 179 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(176): Show |
intron_variant | MODIFIER | c.2614-45A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 8/37 | chr8 | 60819962 | ||||||
| chr8:60819983
|
CT | C | 24 | a0001c0001t0002g0125a0001c0001t0004g0036a0001c0001t0004g0040others(21): Show | 24 | HG00673.hp1 HG01175.hp1 HG01975.hp1 others(21): Show |
intron_variant | MODIFIER | c.2614-14delT | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr8 | 60819983 | |||||
| chr8:60820256
|
TTAA | T | 3 | a0001c0002t0006g0109a0001c0002t0006g0114a0001c0032t0028g0174 | 3 | HG02572.hp2 HG02886.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.2697+172_2697+174d others(5): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 9/37 | INFO_REALIGN_3_PRIME | chr8 | 60820256 | |||||
| chr8:60820609
|
T | C | 1 | a0001c0001t0017g0231 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.2697+519T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 9/37 | chr8 | 60820609 | ||||||
| chr8:60820829
|
T | C | 1 | a0001c0005t0002g0215 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.2697+739T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 9/37 | chr8 | 60820829 | ||||||
| chr8:60820980
|
T | G | 1 | a0001c0001t0002g0110 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.2698-810T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 9/37 | chr8 | 60820980 | ||||||
| chr8:60821180
|
C | T | 22 | a0001c0001t0002g0074a0001c0001t0007g0223a0001c0001t0009g0226others(19): Show | 22 | HG00741.hp2 HG01069.hp1 HG02109.hp2 others(19): Show |
intron_variant | MODIFIER | c.2698-610C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 9/37 | chr8 | 60821180 | ||||||
| chr8:60821248
|
A | G | 3 | a0001c0002t0006g0109a0001c0002t0006g0114a0001c0032t0028g0174 | 3 | HG02572.hp2 HG02886.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.2698-542A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 9/37 | chr8 | 60821248 | ||||||
| chr8:60821312
|
G | A | 1 | a0001c0001t0016g0105 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2698-478G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 9/37 | chr8 | 60821312 | ||||||
| chr8:60821466
|
G | C | 1 | a0001c0001t0001g0011 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.2698-324G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 9/37 | chr8 | 60821466 | ||||||
| chr8:60821544
|
GTA | G | 8 | a0001c0003t0004g0107a0001c0003t0004g0108a0001c0003t0004g0171others(5): Show | 8 | HG02055.hp1 HG02818.hp2 HG02897.hp1 others(5): Show |
intron_variant | MODIFIER | c.2698-237_2698-236d others(4): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 9/37 | INFO_REALIGN_3_PRIME | chr8 | 60821544 | |||||
| chr8:60821607
|
T | G | 1 | a0001c0006t0006g0096 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2698-183T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 9/37 | chr8 | 60821607 | ||||||
| chr8:60821630
|
G | GTATATGT others(25): Show |
2 | a0001c0001t0002g0115a0003c0035t0038g0219 | 2 | HG03130.hp2 NA19000.hp1 |
intron_variant | MODIFIER | c.2698-133_2698-102d others(34): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 9/37 | INFO_REALIGN_3_PRIME | chr8 | 60821630 | |||||
| chr8:60821630
|
GTATATGT others(25): Show |
G | 1 | a0001c0019t0010g0043 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.2698-133_2698-102d others(34): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 9/37 | INFO_REALIGN_3_PRIME | chr8 | 60821630 | |||||
| chr8:60821643
|
CAT | C | 9 | a0001c0001t0023g0213a0001c0003t0004g0107a0001c0003t0004g0108others(6): Show | 9 | HG02055.hp1 HG02818.hp2 HG02897.hp1 others(6): Show |
intron_variant | MODIFIER | c.2698-139_2698-138d others(4): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 9/37 | INFO_REALIGN_3_PRIME | chr8 | 60821643 | |||||
| chr8:60821645
|
T | TATATATA others(19): Show |
1 | a0001c0007t0035g0160 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.2698-136_2698-135i others(28): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 9/37 | INFO_REALIGN_3_PRIME | chr8 | 60821645 | |||||
| chr8:60821736
|
A | G | 58 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(55): Show | 58 | HG00280.hp1 HG00438.hp2 HG00558.hp1 others(55): Show |
intron_variant | MODIFIER | c.2698-54A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 9/37 | chr8 | 60821736 | ||||||
| chr8:60821945
|
G | C | 1 | a0001c0001t0002g0116 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.2835+18G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 10/37 | chr8 | 60821945 | ||||||
| chr8:60822296
|
ATATT | A | 2 | a0001c0001t0001g0007a0001c0033t0001g0010 | 2 | HG01928.hp2 HG02293.hp2 |
intron_variant | MODIFIER | c.2957+152_2957+155d others(6): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 11/37 | chr8 | 60822296 | ||||||
| chr8:60822397
|
C | T | 22 | a0001c0001t0002g0074a0001c0001t0007g0223a0001c0001t0009g0226others(19): Show | 22 | HG00741.hp2 HG01069.hp1 HG02109.hp2 others(19): Show |
intron_variant | MODIFIER | c.2958-106C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 11/37 | chr8 | 60822397 | ||||||
| chr8:60822915
|
A | T | 3 | a0001c0002t0006g0218a0001c0008t0010g0236a0001c0008t0014g0122 | 3 | HG02559.hp2 HG03041.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.3201+169A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 12/37 | chr8 | 60822915 | ||||||
| chr8:60823087
|
A | G | 9 | a0001c0001t0001g0005a0001c0001t0001g0048a0001c0001t0001g0054others(6): Show | 9 | HG01099.hp1 HG01934.hp2 HG01993.hp2 others(6): Show |
intron_variant | MODIFIER | c.3201+341A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 12/37 | chr8 | 60823087 | ||||||
| chr8:60823130
|
T | C | 1 | a0001c0001t0048g0044 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.3201+384T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 12/37 | chr8 | 60823130 | ||||||
| chr8:60823389
|
CTATA | C | 3 | a0001c0001t0014g0221a0001c0001t0039g0220a0008c0028t0037g0170 | 3 | HG00741.hp2 HG06807.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.3202-446_3202-443d others(6): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 12/37 | INFO_REALIGN_3_PRIME | chr8 | 60823389 | |||||
| chr8:60823390
|
TATATATA others(1): Show |
T | 9 | a0001c0001t0014g0233a0001c0003t0004g0107a0001c0003t0004g0108others(6): Show | 9 | HG02055.hp1 HG02818.hp2 HG02897.hp1 others(6): Show |
intron_variant | MODIFIER | c.3202-446_3202-439d others(10): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 12/37 | INFO_REALIGN_3_PRIME | chr8 | 60823390 | |||||
| chr8:60823394
|
T | TATAG | 2 | a0001c0001t0001g0092a0010c0017t0005g0113 | 2 | HG02523.hp1 HG02735.hp2 |
intron_variant | MODIFIER | c.3202-403_3202-400d others(6): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 12/37 | INFO_REALIGN_3_PRIME | chr8 | 60823394 | |||||
| chr8:60823394
|
TATAG | T | 93 | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0011others(90): Show | 93 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(90): Show |
intron_variant | MODIFIER | c.3202-403_3202-400d others(6): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 12/37 | INFO_REALIGN_3_PRIME | chr8 | 60823394 | |||||
| chr8:60823394
|
TATAGATA others(1): Show |
T | 46 | a0001c0001t0001g0028a0001c0001t0001g0232a0001c0001t0002g0116others(43): Show | 46 | HG00140.hp2 HG00558.hp2 HG00642.hp1 others(43): Show |
intron_variant | MODIFIER | c.3202-407_3202-400d others(10): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 12/37 | INFO_REALIGN_3_PRIME | chr8 | 60823394 | |||||
| chr8:60823394
|
TATAGATA others(5): Show |
T | 1 | a0001c0001t0017g0231 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.3202-411_3202-400d others(14): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 12/37 | INFO_REALIGN_3_PRIME | chr8 | 60823394 | |||||
| chr8:60823394
|
TATAGATA others(9): Show |
T | 1 | a0001c0007t0005g0099 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.3202-415_3202-400d others(18): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 12/37 | INFO_REALIGN_3_PRIME | chr8 | 60823394 | |||||
| chr8:60823394
|
TATAGATA others(13): Show |
T | 1 | a0001c0001t0017g0192 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.3202-419_3202-400d others(22): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 12/37 | INFO_REALIGN_3_PRIME | chr8 | 60823394 | |||||
| chr8:60823398
|
G | T | 2 | a0001c0002t0006g0109a0001c0002t0006g0114 | 2 | HG02886.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.3202-442G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 12/37 | chr8 | 60823398 | ||||||
| chr8:60823402
|
G | T | 2 | a0001c0027t0027g0185a0001c0032t0028g0174 | 2 | HG02572.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.3202-438G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 12/37 | chr8 | 60823402 | ||||||
| chr8:60823406
|
G | T | 1 | a0001c0001t0023g0213 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.3202-434G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 12/37 | chr8 | 60823406 | ||||||
| chr8:60823835
|
T | C | 3 | a0001c0001t0001g0054a0001c0001t0033g0008a0001c0001t0042g0055 | 3 | NA18952.hp2 NA19057.hp1 NA19063.hp1 |
splice_region_variant&intron_variant | LOW | c.3202-5T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 12/37 | chr8 | 60823835 | ||||||
| chr8:60824224
|
A | G | 21 | a0001c0001t0007g0223a0001c0001t0009g0226a0001c0001t0009g0227others(18): Show | 21 | HG00741.hp2 HG01069.hp1 HG02109.hp2 others(18): Show |
intron_variant | MODIFIER | c.3378+208A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 13/37 | chr8 | 60824224 | ||||||
| chr8:60824597
|
G | A | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.3378+581G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 13/37 | chr8 | 60824597 | ||||||
| chr8:60824828
|
A | T | 1 | a0001c0001t0003g0078 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.3378+812A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 13/37 | chr8 | 60824828 | ||||||
| chr8:60824957
|
T | A | 1 | a0001c0001t0002g0206 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.3378+941T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 13/37 | chr8 | 60824957 | ||||||
| chr8:60825163
|
A | G | 1 | a0001c0001t0019g0211 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.3378+1147A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 13/37 | chr8 | 60825163 | ||||||
| chr8:60825450
|
A | G | 2 | a0001c0001t0014g0221a0001c0001t0039g0220 | 2 | HG00741.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.3378+1434A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 13/37 | chr8 | 60825450 | ||||||
| chr8:60825696
|
A | G | 1 | a0001c0001t0017g0231 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.3378+1680A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 13/37 | chr8 | 60825696 | ||||||
| chr8:60826691
|
G | A | 1 | a0001c0001t0001g0049 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.3379-1972G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 13/37 | chr8 | 60826691 | ||||||
| chr8:60827001
|
C | T | 1 | a0001c0002t0005g0168 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.3379-1662C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 13/37 | chr8 | 60827001 | ||||||
| chr8:60827154
|
C | T | 1 | a0001c0001t0034g0126 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.3379-1509C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 13/37 | chr8 | 60827154 | ||||||
| chr8:60827248
|
TA | T | 66 | a0001c0001t0001g0076a0001c0001t0002g0125a0001c0001t0002g0131others(63): Show | 66 | HG00099.hp1 HG00642.hp1 HG00673.hp1 others(63): Show |
intron_variant | MODIFIER | c.3379-1402delA | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr8 | 60827248 | |||||
| chr8:60827249
|
A | T | 1 | a0013c0012t0024g0187 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.3379-1414A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 13/37 | chr8 | 60827249 | ||||||
| chr8:60827340
|
T | G | 1 | a0001c0001t0003g0020 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.3379-1323T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 13/37 | chr8 | 60827340 | ||||||
| chr8:60827575
|
C | T | 1 | a0001c0016t0005g0121 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.3379-1088C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 13/37 | chr8 | 60827575 | ||||||
| chr8:60827718
|
A | T | 157 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(154): Show | 157 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(154): Show |
intron_variant | MODIFIER | c.3379-945A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 13/37 | chr8 | 60827718 | ||||||
| chr8:60827738
|
T | C | 1 | a0001c0006t0006g0096 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.3379-925T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 13/37 | chr8 | 60827738 | ||||||
| chr8:60827784
|
C | G | 2 | a0001c0001t0003g0022a0001c0001t0011g0083 | 2 | NA18993.hp2 NA18998.hp1 |
intron_variant | MODIFIER | c.3379-879C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 13/37 | chr8 | 60827784 | ||||||
| chr8:60828262
|
A | G | 1 | a0001c0001t0023g0213 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.3379-401A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 13/37 | chr8 | 60828262 | ||||||
| chr8:60828322
|
T | C | 1 | a0001c0001t0001g0028 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3379-341T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 13/37 | chr8 | 60828322 | ||||||
| chr8:60828504
|
G | C | 1 | a0001c0002t0005g0168 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.3379-159G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 13/37 | chr8 | 60828504 | ||||||
| chr8:60829147
|
G | A | 194 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(191): Show | 194 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(191): Show |
intron_variant | MODIFIER | c.3522+341G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 14/37 | chr8 | 60829147 | ||||||
| chr8:60829210
|
C | G | 2 | a0001c0001t0002g0182a0001c0001t0002g0212 | 2 | HG00140.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.3522+404C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 14/37 | chr8 | 60829210 | ||||||
| chr8:60829231
|
G | A | 172 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(169): Show | 172 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(169): Show |
intron_variant | MODIFIER | c.3522+425G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 14/37 | chr8 | 60829231 | ||||||
| chr8:60829316
|
T | C | 157 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(154): Show | 157 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(154): Show |
intron_variant | MODIFIER | c.3522+510T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 14/37 | chr8 | 60829316 | ||||||
| chr8:60829380
|
A | C | 1 | a0001c0001t0034g0126 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.3522+574A>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 14/37 | chr8 | 60829380 | ||||||
| chr8:60829381
|
C | T | 1 | a0001c0001t0034g0126 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.3522+575C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 14/37 | chr8 | 60829381 | ||||||
| chr8:60829498
|
C | T | 4 | a0001c0002t0006g0218a0001c0008t0010g0236a0001c0008t0014g0122others(1): Show | 4 | HG02145.hp2 HG02559.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.3522+692C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 14/37 | chr8 | 60829498 | ||||||
| chr8:60829578
|
G | A | 21 | a0001c0001t0007g0223a0001c0001t0009g0226a0001c0001t0009g0227others(18): Show | 21 | HG00741.hp2 HG01069.hp1 HG02109.hp2 others(18): Show |
intron_variant | MODIFIER | c.3523-744G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 14/37 | chr8 | 60829578 | ||||||
| chr8:60829724
|
G | A | 1 | a0007c0025t0002g0199 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.3523-598G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 14/37 | chr8 | 60829724 | ||||||
| chr8:60829742
|
C | T | 1 | a0001c0001t0031g0140 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.3523-580C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 14/37 | chr8 | 60829742 | ||||||
| chr8:60829743
|
A | G | 194 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(191): Show | 194 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(191): Show |
intron_variant | MODIFIER | c.3523-579A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 14/37 | chr8 | 60829743 | ||||||
| chr8:60829757
|
T | C | 2 | a0001c0001t0002g0182a0001c0001t0002g0212 | 2 | HG00140.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.3523-565T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 14/37 | chr8 | 60829757 | ||||||
| chr8:60829780
|
A | G | 156 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(153): Show | 156 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(153): Show |
intron_variant | MODIFIER | c.3523-542A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 14/37 | chr8 | 60829780 | ||||||
| chr8:60829785
|
G | A | 2 | a0001c0001t0012g0102a0001c0001t0012g0112 | 2 | HG01069.hp1 HG02280.hp2 |
intron_variant | MODIFIER | c.3523-537G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 14/37 | chr8 | 60829785 | ||||||
| chr8:60829878
|
T | G | 1 | a0001c0001t0015g0130 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.3523-444T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 14/37 | chr8 | 60829878 | ||||||
| chr8:60829986
|
T | C | 1 | a0001c0001t0017g0231 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.3523-336T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 14/37 | chr8 | 60829986 | ||||||
| chr8:60830185
|
C | A | 1 | a0001c0001t0016g0105 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.3523-137C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 14/37 | chr8 | 60830185 | ||||||
| chr8:60830255
|
A | G | 3 | a0001c0002t0006g0109a0001c0002t0006g0114a0001c0032t0028g0174 | 3 | HG02572.hp2 HG02886.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.3523-67A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 14/37 | chr8 | 60830255 | ||||||
| chr8:60830287
|
C | G | 19 | a0001c0001t0002g0074a0001c0001t0007g0223a0001c0001t0009g0226others(16): Show | 19 | HG00741.hp2 HG01069.hp1 HG02109.hp2 others(16): Show |
intron_variant | MODIFIER | c.3523-35C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 14/37 | chr8 | 60830287 | ||||||
| chr8:60830689
|
C | T | 1 | a0001c0001t0004g0036 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.3778+112C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 15/37 | chr8 | 60830689 | ||||||
| chr8:60830834
|
G | A | 1 | a0001c0006t0006g0096 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.3778+257G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 15/37 | chr8 | 60830834 | ||||||
| chr8:60831017
|
G | A | 1 | a0001c0001t0007g0002 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.3778+440G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 15/37 | chr8 | 60831017 | ||||||
| chr8:60831174
|
G | A | 177 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(174): Show | 177 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(174): Show |
intron_variant | MODIFIER | c.3778+597G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 15/37 | chr8 | 60831174 | ||||||
| chr8:60831245
|
C | T | 2 | a0001c0001t0003g0050a0001c0001t0003g0089 | 2 | NA18952.hp1 NA19002.hp1 |
intron_variant | MODIFIER | c.3778+668C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 15/37 | chr8 | 60831245 | ||||||
| chr8:60831282
|
G | A | 1 | a0001c0001t0002g0201 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.3778+705G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 15/37 | chr8 | 60831282 | ||||||
| chr8:60831449
|
A | G | 1 | a0001c0001t0001g0157 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.3778+872A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 15/37 | chr8 | 60831449 | ||||||
| chr8:60831509
|
G | A | 1 | a0001c0007t0035g0160 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.3778+932G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 15/37 | chr8 | 60831509 | ||||||
| chr8:60831592
|
G | C | 1 | a0001c0001t0001g0059 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.3778+1015G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 15/37 | chr8 | 60831592 | ||||||
| chr8:60831939
|
C | T | 1 | a0001c0001t0009g0227 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.3778+1362C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 15/37 | chr8 | 60831939 | ||||||
| chr8:60832038
|
T | A | 1 | a0001c0038t0010g0169 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.3778+1461T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 15/37 | chr8 | 60832038 | ||||||
| chr8:60832076
|
C | T | 1 | a0001c0001t0017g0231 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.3778+1499C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 15/37 | chr8 | 60832076 | ||||||
| chr8:60832311
|
C | T | 4 | a0001c0002t0006g0218a0001c0008t0010g0236a0001c0008t0014g0122others(1): Show | 4 | HG02145.hp2 HG02559.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.3778+1734C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 15/37 | chr8 | 60832311 | ||||||
| chr8:60832333
|
T | G | 1 | a0001c0001t0012g0112 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.3778+1756T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 15/37 | chr8 | 60832333 | ||||||
| chr8:60832394
|
G | C | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.3778+1817G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 15/37 | chr8 | 60832394 | ||||||
| chr8:60832497
|
A | G | 66 | a0001c0001t0002g0125a0001c0001t0002g0131a0001c0001t0004g0036others(63): Show | 66 | HG00099.hp1 HG00642.hp1 HG00673.hp1 others(63): Show |
intron_variant | MODIFIER | c.3778+1920A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 15/37 | chr8 | 60832497 | ||||||
| chr8:60832502
|
A | G | 1 | a0001c0001t0007g0002 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.3778+1925A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 15/37 | chr8 | 60832502 | ||||||
| chr8:60832509
|
G | A | 2 | a0001c0002t0005g0101a0001c0002t0051g0030 | 2 | HG01192.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.3778+1932G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 15/37 | chr8 | 60832509 | ||||||
| chr8:60832758
|
G | A | 1 | a0001c0027t0027g0185 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.3778+2181G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 15/37 | chr8 | 60832758 | ||||||
| chr8:60832780
|
G | A | 7 | a0001c0003t0004g0107a0001c0003t0004g0108a0001c0003t0004g0171others(4): Show | 7 | HG02055.hp1 HG02818.hp2 HG02897.hp1 others(4): Show |
intron_variant | MODIFIER | c.3778+2203G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 15/37 | chr8 | 60832780 | ||||||
| chr8:60832841
|
C | T | 2 | a0002c0009t0013g0103a0002c0009t0013g0104 | 2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.3778+2264C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 15/37 | chr8 | 60832841 | ||||||
| chr8:60832843
|
C | T | 1 | a0001c0024t0004g0146 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.3778+2266C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 15/37 | chr8 | 60832843 | ||||||
| chr8:60832883
|
G | A | 2 | a0001c0018t0005g0184a0010c0017t0005g0113 | 2 | HG02735.hp2 HG03491.hp1 |
intron_variant | MODIFIER | c.3778+2306G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 15/37 | chr8 | 60832883 | ||||||
| chr8:60833005
|
A | G | 1 | a0001c0024t0004g0146 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.3778+2428A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 15/37 | chr8 | 60833005 | ||||||
| chr8:60833077
|
C | A | 194 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(191): Show | 194 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(191): Show |
intron_variant | MODIFIER | c.3778+2500C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 15/37 | chr8 | 60833077 | ||||||
| chr8:60833160
|
A | G | 1 | a0001c0001t0002g0125 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.3778+2583A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 15/37 | chr8 | 60833160 | ||||||
| chr8:60833568
|
T | C | 1 | a0001c0002t0006g0114 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.3779-2505T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 15/37 | chr8 | 60833568 | ||||||
| chr8:60833681
|
C | G | 1 | a0001c0001t0017g0231 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.3779-2392C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 15/37 | chr8 | 60833681 | ||||||
| chr8:60833863
|
C | T | 66 | a0001c0001t0002g0125a0001c0001t0002g0131a0001c0001t0004g0036others(63): Show | 66 | HG00099.hp1 HG00642.hp1 HG00673.hp1 others(63): Show |
intron_variant | MODIFIER | c.3779-2210C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 15/37 | chr8 | 60833863 | ||||||
| chr8:60833870
|
C | A | 4 | a0001c0001t0014g0221a0001c0001t0014g0233a0001c0001t0039g0220others(1): Show | 4 | HG00741.hp2 HG02970.hp2 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.3779-2203C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 15/37 | chr8 | 60833870 | ||||||
| chr8:60833880
|
T | A | 6 | a0001c0001t0003g0021a0001c0001t0003g0078a0001c0001t0003g0080others(3): Show | 6 | NA18943.hp2 NA18957.hp1 NA18965.hp1 others(3): Show |
intron_variant | MODIFIER | c.3779-2193T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 15/37 | chr8 | 60833880 | ||||||
| chr8:60833882
|
T | C | 1 | a0001c0001t0001g0003 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.3779-2191T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 15/37 | chr8 | 60833882 | ||||||
| chr8:60834015
|
G | A | 2 | a0001c0001t0001g0014a0001c0001t0001g0076 | 2 | HG03491.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.3779-2058G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 15/37 | chr8 | 60834015 | ||||||
| chr8:60834297
|
A | T | 2 | a0001c0018t0005g0184a0010c0017t0005g0113 | 2 | HG02735.hp2 HG03491.hp1 |
intron_variant | MODIFIER | c.3779-1776A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 15/37 | chr8 | 60834297 | ||||||
| chr8:60834427
|
G | A | 1 | a0001c0002t0006g0114 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.3779-1646G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 15/37 | chr8 | 60834427 | ||||||
| chr8:60834431
|
A | C | 1 | a0006c0037t0036g0214 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.3779-1642A>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 15/37 | chr8 | 60834431 | ||||||
| chr8:60834528
|
A | G | 2 | a0001c0018t0005g0184a0010c0017t0005g0113 | 2 | HG02735.hp2 HG03491.hp1 |
intron_variant | MODIFIER | c.3779-1545A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 15/37 | chr8 | 60834528 | ||||||
| chr8:60834964
|
T | C | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.3779-1109T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 15/37 | chr8 | 60834964 | ||||||
| chr8:60835032
|
T | G | 2 | a0001c0001t0023g0213a0001c0027t0027g0185 | 2 | NA19030.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.3779-1041T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 15/37 | chr8 | 60835032 | ||||||
| chr8:60835140
|
A | G | 1 | a0001c0001t0001g0072 | 1 | NA18984.hp2 | intron_variant | MODIFIER | c.3779-933A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 15/37 | chr8 | 60835140 | ||||||
| chr8:60835423
|
G | A | 3 | a0001c0001t0002g0204a0001c0001t0002g0209a0001c0001t0019g0211 | 3 | HG00639.hp2 HG01258.hp2 HG01515.hp1 |
intron_variant | MODIFIER | c.3779-650G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 15/37 | chr8 | 60835423 | ||||||
| chr8:60835856
|
G | A | 194 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(191): Show | 194 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(191): Show |
intron_variant | MODIFIER | c.3779-217G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 15/37 | chr8 | 60835856 | ||||||
| chr8:60836317
|
A | G | 2 | a0001c0001t0002g0117a0001c0001t0002g0202 | 2 | NA18990.hp1 NA19072.hp2 |
intron_variant | MODIFIER | c.3989+34A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 16/37 | chr8 | 60836317 | ||||||
| chr8:60836334
|
C | A | 177 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(174): Show | 177 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(174): Show |
intron_variant | MODIFIER | c.3989+51C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 16/37 | chr8 | 60836334 | ||||||
| chr8:60836421
|
T | C | 1 | a0001c0001t0018g0197 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.3989+138T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 16/37 | chr8 | 60836421 | ||||||
| chr8:60836736
|
G | T | 1 | a0001c0002t0005g0111 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.3990-81G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 16/37 | chr8 | 60836736 | ||||||
| chr8:60836751
|
T | TA | 7 | a0001c0001t0012g0102a0001c0001t0012g0112a0001c0001t0013g0100others(4): Show | 7 | HG01069.hp1 HG02109.hp2 HG02280.hp2 others(4): Show |
intron_variant | MODIFIER | c.3990-59dupA | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 16/37 | INFO_REALIGN_3_PRIME | chr8 | 60836751 | |||||
| chr8:60836786
|
A | G | 1 | a0001c0001t0001g0061 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.3990-31A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 16/37 | chr8 | 60836786 | ||||||
| chr8:60837102
|
G | C | 66 | a0001c0001t0002g0125a0001c0001t0002g0131a0001c0001t0004g0036others(63): Show | 66 | HG00099.hp1 HG00642.hp1 HG00673.hp1 others(63): Show |
intron_variant | MODIFIER | c.4185+90G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 17/37 | chr8 | 60837102 | ||||||
| chr8:60837107
|
G | A | 1 | a0016c0031t0003g0018 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.4185+95G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 17/37 | chr8 | 60837107 | ||||||
| chr8:60837443
|
A | G | 178 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(175): Show | 178 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(175): Show |
intron_variant | MODIFIER | c.4186-225A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 17/37 | chr8 | 60837443 | ||||||
| chr8:60837972
|
A | G | 1 | a0001c0001t0001g0028 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.4354-104A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 18/37 | chr8 | 60837972 | ||||||
| chr8:60838301
|
A | G | 178 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(175): Show | 178 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(175): Show |
intron_variant | MODIFIER | c.4533+46A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 19/37 | chr8 | 60838301 | ||||||
| chr8:60838473
|
C | A | 1 | a0001c0010t0011g0159 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.4533+218C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 19/37 | chr8 | 60838473 | ||||||
| chr8:60838509
|
G | A | 1 | a0001c0008t0014g0122 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.4533+254G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 19/37 | chr8 | 60838509 | ||||||
| chr8:60838821
|
A | G | 1 | a0001c0038t0010g0169 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.4533+566A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 19/37 | chr8 | 60838821 | ||||||
| chr8:60838976
|
A | C | 1 | a0001c0001t0007g0141 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.4533+721A>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 19/37 | chr8 | 60838976 | ||||||
| chr8:60839321
|
C | A | 178 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(175): Show | 178 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(175): Show |
intron_variant | MODIFIER | c.4533+1066C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 19/37 | chr8 | 60839321 | ||||||
| chr8:60839663
|
A | G | 1 | a0001c0018t0005g0184 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.4533+1408A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 19/37 | chr8 | 60839663 | ||||||
| chr8:60839727
|
A | G | 4 | a0001c0001t0014g0221a0001c0001t0014g0233a0001c0001t0039g0220others(1): Show | 4 | HG00741.hp2 HG02970.hp2 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.4533+1472A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 19/37 | chr8 | 60839727 | ||||||
| chr8:60839833
|
T | C | 1 | a0001c0027t0027g0185 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.4533+1578T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 19/37 | chr8 | 60839833 | ||||||
| chr8:60839951
|
A | G | 1 | a0001c0007t0035g0160 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.4534-1693A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 19/37 | chr8 | 60839951 | ||||||
| chr8:60839995
|
C | T | 2 | a0001c0038t0010g0169a0013c0012t0024g0187 | 2 | HG02109.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.4534-1649C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 19/37 | chr8 | 60839995 | ||||||
| chr8:60840582
|
A | G | 2 | a0001c0001t0002g0118a0001c0001t0007g0208 | 2 | NA18969.hp2 NA19004.hp1 |
intron_variant | MODIFIER | c.4534-1062A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 19/37 | chr8 | 60840582 | ||||||
| chr8:60840614
|
A | C | 2 | a0002c0009t0013g0103a0002c0009t0013g0104 | 2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.4534-1030A>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 19/37 | chr8 | 60840614 | ||||||
| chr8:60840625
|
C | CT | 156 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(153): Show | 156 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(153): Show |
intron_variant | MODIFIER | c.4534-1007dupT | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 19/37 | INFO_REALIGN_3_PRIME | chr8 | 60840625 | |||||
| chr8:60840704
|
A | G | 194 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(191): Show | 194 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(191): Show |
intron_variant | MODIFIER | c.4534-940A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 19/37 | chr8 | 60840704 | ||||||
| chr8:60840855
|
C | T | 1 | a0008c0028t0037g0170 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.4534-789C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 19/37 | chr8 | 60840855 | ||||||
| chr8:60840916
|
C | A | 2 | a0001c0001t0009g0224a0001c0001t0009g0225 | 2 | HG01070.hp1 HG01071.hp1 |
intron_variant | MODIFIER | c.4534-728C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 19/37 | chr8 | 60840916 | ||||||
| chr8:60840995
|
G | A | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.4534-649G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 19/37 | chr8 | 60840995 | ||||||
| chr8:60841021
|
G | C | 1 | a0001c0002t0029g0088 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.4534-623G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 19/37 | chr8 | 60841021 | ||||||
| chr8:60841344
|
G | A | 2 | a0002c0009t0013g0103a0002c0009t0013g0104 | 2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.4534-300G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 19/37 | chr8 | 60841344 | ||||||
| chr8:60841350
|
C | T | 7 | a0001c0001t0012g0102a0001c0001t0012g0112a0001c0001t0013g0100others(4): Show | 7 | HG01069.hp1 HG02109.hp2 HG02280.hp2 others(4): Show |
intron_variant | MODIFIER | c.4534-294C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 19/37 | chr8 | 60841350 | ||||||
| chr8:60841483
|
G | T | 1 | a0001c0001t0019g0191 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.4534-161G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 19/37 | chr8 | 60841483 | ||||||
| chr8:60841558
|
C | T | 1 | a0008c0028t0037g0170 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.4534-86C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 19/37 | chr8 | 60841558 | ||||||
| chr8:60841631
|
T | G | 5 | a0001c0001t0009g0226a0001c0001t0009g0227a0001c0001t0009g0228others(2): Show | 5 | HG02922.hp2 HG03195.hp1 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.4534-13T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 19/37 | chr8 | 60841631 | ||||||
| chr8:60841780
|
C | T | 1 | a0008c0028t0037g0170 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.4644+26C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 20/37 | chr8 | 60841780 | ||||||
| chr8:60842128
|
A | G | 20 | a0001c0001t0002g0074a0001c0001t0007g0223a0001c0001t0009g0226others(17): Show | 20 | HG00741.hp2 HG01069.hp1 HG02109.hp2 others(17): Show |
intron_variant | MODIFIER | c.4850+76A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 21/37 | chr8 | 60842128 | ||||||
| chr8:60842404
|
G | A | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.4850+352G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 21/37 | chr8 | 60842404 | ||||||
| chr8:60842424
|
T | A | 1 | a0001c0001t0021g0094 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.4850+372T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 21/37 | chr8 | 60842424 | ||||||
| chr8:60842859
|
G | A | 1 | a0001c0033t0001g0010 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.4850+807G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 21/37 | chr8 | 60842859 | ||||||
| chr8:60842908
|
G | T | 3 | a0001c0002t0006g0109a0001c0002t0006g0114a0001c0032t0028g0174 | 3 | HG02572.hp2 HG02886.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.4850+856G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 21/37 | chr8 | 60842908 | ||||||
| chr8:60842936
|
C | T | 1 | a0001c0001t0008g0068 | 1 | NA18980.hp1 | intron_variant | MODIFIER | c.4850+884C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 21/37 | chr8 | 60842936 | ||||||
| chr8:60843309
|
G | T | 157 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(154): Show | 157 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(154): Show |
intron_variant | MODIFIER | c.4850+1257G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 21/37 | chr8 | 60843309 | ||||||
| chr8:60843314
|
G | A | 1 | a0001c0007t0035g0160 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.4850+1262G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 21/37 | chr8 | 60843314 | ||||||
| chr8:60843407
|
A | G | 175 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(172): Show | 175 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(172): Show |
intron_variant | MODIFIER | c.4850+1355A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 21/37 | chr8 | 60843407 | ||||||
| chr8:60843476
|
A | G | 4 | a0001c0002t0006g0218a0001c0008t0010g0236a0001c0008t0014g0122others(1): Show | 4 | HG02145.hp2 HG02559.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.4851-1388A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 21/37 | chr8 | 60843476 | ||||||
| chr8:60843507
|
G | T | 1 | a0001c0001t0001g0059 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.4851-1357G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 21/37 | chr8 | 60843507 | ||||||
| chr8:60843510
|
A | G | 194 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(191): Show | 194 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(191): Show |
intron_variant | MODIFIER | c.4851-1354A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 21/37 | chr8 | 60843510 | ||||||
| chr8:60843542
|
G | A | 2 | a0001c0001t0004g0036a0001c0001t0004g0045 | 2 | HG01175.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.4851-1322G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 21/37 | chr8 | 60843542 | ||||||
| chr8:60843871
|
A | C | 1 | a0001c0001t0012g0097 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.4851-993A>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 21/37 | chr8 | 60843871 | ||||||
| chr8:60844003
|
C | G | 1 | a0001c0001t0017g0231 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.4851-861C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 21/37 | chr8 | 60844003 | ||||||
| chr8:60844030
|
T | C | 1 | a0005c0020t0004g0136 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.4851-834T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 21/37 | chr8 | 60844030 | ||||||
| chr8:60844149
|
C | T | 1 | a0003c0035t0038g0219 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.4851-715C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 21/37 | chr8 | 60844149 | ||||||
| chr8:60844435
|
C | T | 1 | a0001c0001t0003g0087 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.4851-429C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 21/37 | chr8 | 60844435 | ||||||
| chr8:60845246
|
C | T | 1 | a0001c0001t0002g0201 | 1 | HG01993.hp1 | splice_region_variant&intron_variant | LOW | c.5051-4C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 22/37 | chr8 | 60845246 | ||||||
| chr8:60845432
|
TG | T | 4 | a0001c0001t0008g0066a0001c0001t0008g0068a0001c0001t0047g0065others(1): Show | 4 | NA18980.hp1 NA19004.hp2 NA19010.hp2 others(1): Show |
intron_variant | MODIFIER | c.5210+25delG | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 23/37 | INFO_REALIGN_3_PRIME | chr8 | 60845432 | |||||
| chr8:60845460
|
T | TA | 8 | a0001c0001t0012g0097a0001c0001t0012g0102a0001c0001t0012g0112others(5): Show | 8 | HG01069.hp1 HG02109.hp2 HG02257.hp1 others(5): Show |
intron_variant | MODIFIER | c.5210+57dupA | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 23/37 | INFO_REALIGN_3_PRIME | chr8 | 60845460 | |||||
| chr8:60845524
|
A | G | 1 | a0001c0001t0001g0075 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.5210+115A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 23/37 | chr8 | 60845524 | ||||||
| chr8:60845578
|
A | G | 1 | a0001c0001t0012g0097 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.5210+169A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 23/37 | chr8 | 60845578 | ||||||
| chr8:60845695
|
G | A | 178 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(175): Show | 178 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(175): Show |
intron_variant | MODIFIER | c.5210+286G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 23/37 | chr8 | 60845695 | ||||||
| chr8:60845934
|
A | G | 2 | a0001c0001t0003g0050a0001c0001t0003g0089 | 2 | NA18952.hp1 NA19002.hp1 |
intron_variant | MODIFIER | c.5210+525A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 23/37 | chr8 | 60845934 | ||||||
| chr8:60845952
|
G | A | 1 | a0001c0002t0005g0168 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.5210+543G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 23/37 | chr8 | 60845952 | ||||||
| chr8:60846139
|
G | A | 9 | a0001c0002t0005g0101a0001c0002t0005g0162a0001c0002t0005g0164others(6): Show | 9 | HG01109.hp2 HG01192.hp1 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.5210+730G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 23/37 | chr8 | 60846139 | ||||||
| chr8:60846210
|
C | G | 1 | a0001c0001t0002g0131 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.5210+801C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 23/37 | chr8 | 60846210 | ||||||
| chr8:60846216
|
T | C | 1 | a0003c0035t0038g0219 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.5210+807T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 23/37 | chr8 | 60846216 | ||||||
| chr8:60846243
|
G | A | 1 | a0001c0001t0002g0131 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.5210+834G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 23/37 | chr8 | 60846243 | ||||||
| chr8:60846300
|
A | T | 1 | a0001c0001t0047g0065 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.5210+891A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 23/37 | chr8 | 60846300 | ||||||
| chr8:60846417
|
G | A | 1 | a0001c0001t0011g0090 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.5210+1008G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 23/37 | chr8 | 60846417 | ||||||
| chr8:60846490
|
G | A | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.5210+1081G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 23/37 | chr8 | 60846490 | ||||||
| chr8:60846586
|
C | G | 158 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(155): Show | 158 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(155): Show |
intron_variant | MODIFIER | c.5210+1177C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 23/37 | chr8 | 60846586 | ||||||
| chr8:60846638
|
A | T | 1 | a0001c0001t0003g0087 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.5210+1229A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 23/37 | chr8 | 60846638 | ||||||
| chr8:60846858
|
C | G | 1 | a0013c0012t0024g0187 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.5210+1449C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 23/37 | chr8 | 60846858 | ||||||
| chr8:60847676
|
T | C | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.5211-839T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 23/37 | chr8 | 60847676 | ||||||
| chr8:60847962
|
A | G | 179 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(176): Show | 179 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(176): Show |
intron_variant | MODIFIER | c.5211-553A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 23/37 | chr8 | 60847962 | ||||||
| chr8:60848035
|
A | T | 1 | a0001c0001t0017g0231 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.5211-480A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 23/37 | chr8 | 60848035 | ||||||
| chr8:60848264
|
C | A | 2 | a0001c0001t0002g0182a0001c0001t0002g0212 | 2 | HG00140.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.5211-251C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 23/37 | chr8 | 60848264 | ||||||
| chr8:60848291
|
T | C | 3 | a0001c0001t0011g0077a0001c0001t0043g0039a0001c0001t0045g0128 | 3 | NA18962.hp2 NA18985.hp2 NA19077.hp1 |
intron_variant | MODIFIER | c.5211-224T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 23/37 | chr8 | 60848291 | ||||||
| chr8:60848489
|
T | C | 2 | a0001c0001t0004g0139a0001c0001t0031g0140 | 2 | HG02155.hp2 NA18954.hp2 |
intron_variant | MODIFIER | c.5211-26T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 23/37 | chr8 | 60848489 | ||||||
| chr8:60848621
|
A | G | 1 | a0001c0008t0010g0236 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.5300+17A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 24/37 | chr8 | 60848621 | ||||||
| chr8:60848737
|
A | G | 2 | a0002c0009t0013g0103a0002c0009t0013g0104 | 2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.5300+133A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 24/37 | chr8 | 60848737 | ||||||
| chr8:60848953
|
T | A | 2 | a0001c0001t0023g0213a0001c0027t0027g0185 | 2 | NA19030.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.5301-98T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 24/37 | chr8 | 60848953 | ||||||
| chr8:60849194
|
G | A | 1 | a0001c0016t0005g0121 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.5404+40G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 25/37 | chr8 | 60849194 | ||||||
| chr8:60849221
|
A | G | 7 | a0001c0003t0004g0107a0001c0003t0004g0108a0001c0003t0004g0171others(4): Show | 7 | HG02055.hp1 HG02818.hp2 HG02897.hp1 others(4): Show |
intron_variant | MODIFIER | c.5404+67A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 25/37 | chr8 | 60849221 | ||||||
| chr8:60849517
|
G | T | 3 | a0001c0002t0006g0218a0001c0018t0005g0184a0010c0017t0005g0113 | 3 | HG02735.hp2 HG03195.hp2 HG03491.hp1 |
intron_variant | MODIFIER | c.5404+363G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 25/37 | chr8 | 60849517 | ||||||
| chr8:60849787
|
G | A | 1 | a0001c0001t0002g0115 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.5404+633G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 25/37 | chr8 | 60849787 | ||||||
| chr8:60849851
|
C | G | 1 | a0001c0002t0006g0091 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.5405-642C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 25/37 | chr8 | 60849851 | ||||||
| chr8:60849987
|
A | G | 1 | a0001c0001t0002g0200 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.5405-506A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 25/37 | chr8 | 60849987 | ||||||
| chr8:60850074
|
A | C | 1 | a0001c0007t0005g0099 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.5405-419A>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 25/37 | chr8 | 60850074 | ||||||
| chr8:60850178
|
C | T | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.5405-315C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 25/37 | chr8 | 60850178 | ||||||
| chr8:60850194
|
T | C | 3 | a0001c0002t0006g0109a0001c0002t0006g0114a0001c0032t0028g0174 | 3 | HG02572.hp2 HG02886.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.5405-299T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 25/37 | chr8 | 60850194 | ||||||
| chr8:60850317
|
C | G | 3 | a0001c0010t0007g0056a0001c0010t0011g0159a0008c0028t0037g0170 | 3 | HG00741.hp1 HG03710.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.5405-176C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 25/37 | chr8 | 60850317 | ||||||
| chr8:60850359
|
T | C | 1 | a0001c0004t0002g0176 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.5405-134T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 25/37 | chr8 | 60850359 | ||||||
| chr8:60850843
|
G | A | 1 | a0001c0001t0004g0064 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.5535-189G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 26/37 | chr8 | 60850843 | ||||||
| chr8:60850860
|
C | T | 1 | a0001c0001t0002g0161 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.5535-172C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 26/37 | chr8 | 60850860 | ||||||
| chr8:60850884
|
A | G | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.5535-148A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 26/37 | chr8 | 60850884 | ||||||
| chr8:60850931
|
A | G | 1 | a0003c0035t0038g0219 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.5535-101A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 26/37 | chr8 | 60850931 | ||||||
| chr8:60850964
|
T | C | 19 | a0001c0001t0009g0224a0001c0001t0009g0225a0001c0001t0009g0226others(16): Show | 19 | HG00741.hp2 HG01069.hp1 HG01070.hp1 others(16): Show |
intron_variant | MODIFIER | c.5535-68T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 26/37 | chr8 | 60850964 | ||||||
| chr8:60851209
|
A | G | 1 | a0001c0006t0016g0120 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.5608-53A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 27/37 | chr8 | 60851209 | ||||||
| chr8:60851517
|
A | G | 148 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(145): Show | 148 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(145): Show |
intron_variant | MODIFIER | c.5665+198A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 28/37 | chr8 | 60851517 | ||||||
| chr8:60851586
|
A | G | 1 | a0013c0012t0024g0187 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.5665+267A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 28/37 | chr8 | 60851586 | ||||||
| chr8:60851687
|
C | T | 1 | a0001c0002t0050g0163 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.5666-332C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 28/37 | chr8 | 60851687 | ||||||
| chr8:60851705
|
A | AT | 4 | a0001c0001t0001g0151a0001c0001t0001g0153a0001c0001t0001g0155others(1): Show | 4 | HG00639.hp1 HG00642.hp2 HG01109.hp1 others(1): Show |
intron_variant | MODIFIER | c.5666-308dupT | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 28/37 | INFO_REALIGN_3_PRIME | chr8 | 60851705 | |||||
| chr8:60851830
|
G | T | 145 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(142): Show | 145 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(142): Show |
intron_variant | MODIFIER | c.5666-189G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 28/37 | chr8 | 60851830 | ||||||
| chr8:60851861
|
T | C | 1 | a0013c0012t0024g0187 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.5666-158T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 28/37 | chr8 | 60851861 | ||||||
| chr8:60851899
|
A | C | 1 | a0001c0006t0006g0096 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.5666-120A>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 28/37 | chr8 | 60851899 | ||||||
| chr8:60852279
|
C | T | 2 | a0001c0001t0017g0192a0001c0001t0017g0231 | 2 | HG02280.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.5894+32C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 29/37 | chr8 | 60852279 | ||||||
| chr8:60852284
|
C | T | 1 | a0001c0010t0011g0159 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.5894+37C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 29/37 | chr8 | 60852284 | ||||||
| chr8:60852349
|
C | G | 4 | a0001c0001t0002g0181a0001c0001t0004g0134a0001c0001t0015g0130others(1): Show | 4 | HG01070.hp2 HG01255.hp1 NA20752.hp1 others(1): Show |
intron_variant | MODIFIER | c.5894+102C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 29/37 | chr8 | 60852349 | ||||||
| chr8:60852350
|
C | A | 1 | a0010c0017t0005g0113 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.5894+103C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 29/37 | chr8 | 60852350 | ||||||
| chr8:60852714
|
C | T | 34 | a0001c0002t0005g0098a0001c0002t0005g0101a0001c0002t0005g0111others(31): Show | 34 | HG00099.hp1 HG00735.hp2 HG01109.hp2 others(31): Show |
splice_region_variant&intron_variant | LOW | c.6103+8C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 30/37 | chr8 | 60852714 | ||||||
| chr8:60853510
|
T | C | 1 | a0001c0001t0002g0195 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.6775+10T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 31/37 | chr8 | 60853510 | ||||||
| chr8:60853556
|
C | T | 2 | a0001c0001t0004g0216a0001c0001t0015g0035 | 2 | NA19056.hp2 NA19072.hp1 |
intron_variant | MODIFIER | c.6775+56C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 31/37 | chr8 | 60853556 | ||||||
| chr8:60853574
|
C | T | 1 | a0001c0007t0005g0099 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.6775+74C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 31/37 | chr8 | 60853574 | ||||||
| chr8:60853575
|
G | A | 1 | a0001c0001t0002g0116 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.6775+75G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 31/37 | chr8 | 60853575 | ||||||
| chr8:60853628
|
T | G | 1 | a0013c0012t0024g0187 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.6775+128T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 31/37 | chr8 | 60853628 | ||||||
| chr8:60853642
|
G | A | 1 | a0001c0001t0040g0177 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.6775+142G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 31/37 | chr8 | 60853642 | ||||||
| chr8:60853819
|
G | A | 37 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(34): Show | 37 | HG00280.hp1 HG00438.hp2 HG00558.hp1 others(34): Show |
intron_variant | MODIFIER | c.6775+319G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 31/37 | chr8 | 60853819 | ||||||
| chr8:60853872
|
C | T | 154 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(151): Show | 154 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(151): Show |
intron_variant | MODIFIER | c.6775+372C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 31/37 | chr8 | 60853872 | ||||||
| chr8:60853956
|
G | A | 1 | a0001c0001t0001g0060 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.6776-407G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 31/37 | chr8 | 60853956 | ||||||
| chr8:60854115
|
G | A | 1 | a0013c0012t0024g0187 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.6776-248G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 31/37 | chr8 | 60854115 | ||||||
| chr8:60854126
|
G | C | 5 | a0001c0001t0007g0042a0001c0001t0007g0141a0001c0001t0007g0143others(2): Show | 5 | HG01081.hp2 HG01928.hp1 HG02293.hp1 others(2): Show |
intron_variant | MODIFIER | c.6776-237G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 31/37 | chr8 | 60854126 | ||||||
| chr8:60854149
|
C | T | 3 | a0001c0001t0018g0194a0001c0001t0018g0197a0001c0001t0040g0177 | 3 | HG02109.hp2 HG02451.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.6776-214C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 31/37 | chr8 | 60854149 | ||||||
| chr8:60854707
|
A | G | 1 | a0001c0036t0026g0106 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.6936+184A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 32/37 | chr8 | 60854707 | ||||||
| chr8:60854782
|
T | G | 2 | a0002c0009t0013g0103a0002c0009t0013g0104 | 2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.6936+259T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 32/37 | chr8 | 60854782 | ||||||
| chr8:60854831
|
G | C | 146 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(143): Show | 146 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(143): Show |
intron_variant | MODIFIER | c.6936+308G>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 32/37 | chr8 | 60854831 | ||||||
| chr8:60855035
|
ATAG | A | 2 | a0002c0009t0013g0103a0002c0009t0013g0104 | 2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.6936+515_6936+517d others(5): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr8 | 60855035 | |||||
| chr8:60855137
|
AAC | A | 18 | a0001c0001t0009g0224a0001c0001t0009g0225a0001c0001t0009g0226others(15): Show | 18 | HG00741.hp2 HG01069.hp1 HG01070.hp1 others(15): Show |
intron_variant | MODIFIER | c.6936+618_6936+619d others(4): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr8 | 60855137 | |||||
| chr8:60855151
|
G | A | 1 | a0006c0037t0036g0214 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.6936+628G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 32/37 | chr8 | 60855151 | ||||||
| chr8:60855190
|
A | G | 2 | a0001c0002t0006g0109a0001c0032t0028g0174 | 2 | HG02572.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.6936+667A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 32/37 | chr8 | 60855190 | ||||||
| chr8:60855264
|
A | G | 1 | a0001c0001t0018g0197 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.6937-711A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 32/37 | chr8 | 60855264 | ||||||
| chr8:60855349
|
G | A | 37 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(34): Show | 37 | HG00280.hp1 HG00438.hp2 HG00558.hp1 others(34): Show |
intron_variant | MODIFIER | c.6937-626G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 32/37 | chr8 | 60855349 | ||||||
| chr8:60855453
|
A | G | 1 | a0013c0012t0024g0187 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.6937-522A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 32/37 | chr8 | 60855453 | ||||||
| chr8:60855729
|
C | T | 2 | a0001c0001t0009g0224a0001c0001t0009g0225 | 2 | HG01070.hp1 HG01071.hp1 |
intron_variant | MODIFIER | c.6937-246C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 32/37 | chr8 | 60855729 | ||||||
| chr8:60856956
|
G | A | 2 | a0001c0007t0005g0099a0001c0007t0035g0160 | 2 | HG03041.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.7608+68G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/37 | chr8 | 60856956 | ||||||
| chr8:60857268
|
C | T | 1 | a0013c0012t0024g0187 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.7608+380C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/37 | chr8 | 60857268 | ||||||
| chr8:60857307
|
T | C | 3 | a0001c0010t0007g0056a0001c0010t0011g0159a0008c0028t0037g0170 | 3 | HG00741.hp1 HG03710.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.7608+419T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/37 | chr8 | 60857307 | ||||||
| chr8:60857314
|
G | A | 147 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(144): Show | 147 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(144): Show |
intron_variant | MODIFIER | c.7608+426G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/37 | chr8 | 60857314 | ||||||
| chr8:60857320
|
T | G | 1 | a0013c0012t0024g0187 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.7608+432T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/37 | chr8 | 60857320 | ||||||
| chr8:60857558
|
T | A | 1 | a0013c0012t0024g0187 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.7608+670T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/37 | chr8 | 60857558 | ||||||
| chr8:60857733
|
T | A | 85 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(82): Show | 85 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(82): Show |
intron_variant | MODIFIER | c.7608+845T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/37 | chr8 | 60857733 | ||||||
| chr8:60857816
|
C | G | 1 | a0013c0012t0024g0187 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.7608+928C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/37 | chr8 | 60857816 | ||||||
| chr8:60857854
|
G | T | 1 | a0001c0001t0014g0233 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.7608+966G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/37 | chr8 | 60857854 | ||||||
| chr8:60857893
|
C | T | 1 | a0001c0001t0002g0207 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.7608+1005C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/37 | chr8 | 60857893 | ||||||
| chr8:60857977
|
C | T | 1 | a0013c0012t0024g0187 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.7608+1089C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/37 | chr8 | 60857977 | ||||||
| chr8:60858126
|
C | T | 1 | a0013c0012t0024g0187 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.7608+1238C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/37 | chr8 | 60858126 | ||||||
| chr8:60858219
|
G | A | 2 | a0001c0001t0001g0004a0001c0001t0003g0047 | 2 | HG01515.hp2 HG03831.hp2 |
intron_variant | MODIFIER | c.7608+1331G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/37 | chr8 | 60858219 | ||||||
| chr8:60858294
|
A | G | 25 | a0001c0001t0002g0074a0001c0001t0009g0224a0001c0001t0009g0225others(22): Show | 25 | HG00741.hp2 HG01069.hp1 HG01070.hp1 others(22): Show |
intron_variant | MODIFIER | c.7608+1406A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/37 | chr8 | 60858294 | ||||||
| chr8:60858362
|
A | G | 4 | a0001c0008t0010g0236a0001c0008t0014g0122a0001c0019t0010g0043others(1): Show | 4 | HG02451.hp1 HG02559.hp2 HG02970.hp1 others(1): Show |
intron_variant | MODIFIER | c.7608+1474A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/37 | chr8 | 60858362 | ||||||
| chr8:60858375
|
C | T | 2 | a0001c0001t0009g0226a0001c0001t0009g0227 | 2 | HG02922.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.7608+1487C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/37 | chr8 | 60858375 | ||||||
| chr8:60858405
|
T | C | 34 | a0001c0002t0005g0098a0001c0002t0005g0101a0001c0002t0005g0111others(31): Show | 34 | HG00099.hp1 HG00735.hp2 HG01109.hp2 others(31): Show |
intron_variant | MODIFIER | c.7608+1517T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/37 | chr8 | 60858405 | ||||||
| chr8:60858560
|
T | A | 1 | a0001c0002t0006g0109 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.7608+1672T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/37 | chr8 | 60858560 | ||||||
| chr8:60858571
|
G | A | 148 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(145): Show | 148 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(145): Show |
intron_variant | MODIFIER | c.7608+1683G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/37 | chr8 | 60858571 | ||||||
| chr8:60858695
|
A | G | 1 | a0001c0001t0004g0217 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.7608+1807A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/37 | chr8 | 60858695 | ||||||
| chr8:60858754
|
C | T | 147 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(144): Show | 147 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(144): Show |
intron_variant | MODIFIER | c.7608+1866C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/37 | chr8 | 60858754 | ||||||
| chr8:60858786
|
T | C | 2 | a0001c0008t0010g0236a0001c0008t0014g0122 | 2 | HG02559.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.7608+1898T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/37 | chr8 | 60858786 | ||||||
| chr8:60858913
|
C | T | 34 | a0001c0002t0005g0098a0001c0002t0005g0101a0001c0002t0005g0111others(31): Show | 34 | HG00099.hp1 HG00735.hp2 HG01109.hp2 others(31): Show |
intron_variant | MODIFIER | c.7609-1991C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/37 | chr8 | 60858913 | ||||||
| chr8:60858969
|
T | G | 3 | a0001c0002t0006g0109a0001c0002t0006g0114a0001c0032t0028g0174 | 3 | HG02572.hp2 HG02886.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.7609-1935T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/37 | chr8 | 60858969 | ||||||
| chr8:60859110
|
T | C | 1 | a0001c0038t0010g0169 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.7609-1794T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/37 | chr8 | 60859110 | ||||||
| chr8:60859137
|
CT | C | 31 | a0001c0002t0005g0098a0001c0002t0005g0101a0001c0002t0005g0111others(28): Show | 31 | HG00099.hp1 HG00735.hp2 HG01109.hp2 others(28): Show |
intron_variant | MODIFIER | c.7609-1756delT | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/37 | INFO_REALIGN_3_PRIME | chr8 | 60859137 | |||||
| chr8:60859186
|
G | A | 1 | a0001c0001t0001g0003 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.7609-1718G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/37 | chr8 | 60859186 | ||||||
| chr8:60859194
|
G | A | 1 | a0001c0001t0001g0152 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.7609-1710G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/37 | chr8 | 60859194 | ||||||
| chr8:60859233
|
T | G | 1 | a0001c0001t0002g0074 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.7609-1671T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/37 | chr8 | 60859233 | ||||||
| chr8:60859238
|
G | T | 4 | a0001c0008t0010g0236a0001c0008t0014g0122a0001c0019t0010g0043others(1): Show | 4 | HG02451.hp1 HG02559.hp2 HG02970.hp1 others(1): Show |
intron_variant | MODIFIER | c.7609-1666G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/37 | chr8 | 60859238 | ||||||
| chr8:60859276
|
C | G | 34 | a0001c0002t0005g0098a0001c0002t0005g0101a0001c0002t0005g0111others(31): Show | 34 | HG00099.hp1 HG00735.hp2 HG01109.hp2 others(31): Show |
intron_variant | MODIFIER | c.7609-1628C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/37 | chr8 | 60859276 | ||||||
| chr8:60859626
|
A | G | 4 | a0001c0001t0009g0226a0001c0001t0009g0227a0001c0001t0009g0228others(1): Show | 4 | HG02922.hp2 HG03195.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.7609-1278A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/37 | chr8 | 60859626 | ||||||
| chr8:60859632
|
A | G | 1 | a0001c0001t0004g0040 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.7609-1272A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/37 | chr8 | 60859632 | ||||||
| chr8:60859853
|
A | G | 1 | a0001c0001t0009g0226 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.7609-1051A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/37 | chr8 | 60859853 | ||||||
| chr8:60859945
|
A | G | 2 | a0001c0001t0017g0192a0001c0001t0017g0231 | 2 | HG02280.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.7609-959A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/37 | chr8 | 60859945 | ||||||
| chr8:60860027
|
G | GC | 25 | a0001c0001t0002g0074a0001c0001t0009g0224a0001c0001t0009g0225others(22): Show | 25 | HG00741.hp2 HG01069.hp1 HG01070.hp1 others(22): Show |
intron_variant | MODIFIER | c.7609-875dupC | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/37 | INFO_REALIGN_3_PRIME | chr8 | 60860027 | |||||
| chr8:60860340
|
G | A | 3 | a0001c0002t0006g0109a0001c0002t0006g0114a0001c0032t0028g0174 | 3 | HG02572.hp2 HG02886.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.7609-564G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/37 | chr8 | 60860340 | ||||||
| chr8:60860428
|
T | G | 5 | a0001c0001t0003g0086a0001c0008t0010g0236a0001c0008t0014g0122others(2): Show | 5 | HG02451.hp1 HG02559.hp2 HG02970.hp1 others(2): Show |
intron_variant | MODIFIER | c.7609-476T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/37 | chr8 | 60860428 | ||||||
| chr8:60860677
|
C | T | 32 | a0001c0002t0005g0098a0001c0002t0005g0101a0001c0002t0005g0111others(29): Show | 32 | HG00099.hp1 HG00735.hp2 HG01109.hp2 others(29): Show |
intron_variant | MODIFIER | c.7609-227C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/37 | chr8 | 60860677 | ||||||
| chr8:60860726
|
C | T | 86 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(83): Show | 86 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(83): Show |
intron_variant | MODIFIER | c.7609-178C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/37 | chr8 | 60860726 | ||||||
| chr8:60860816
|
C | G | 1 | a0001c0036t0026g0106 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.7609-88C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/37 | chr8 | 60860816 | ||||||
| chr8:60860847
|
C | A | 1 | a0001c0007t0005g0099 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.7609-57C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 34/37 | chr8 | 60860847 | ||||||
| chr8:60861169
|
G | A | 1 | a0001c0001t0040g0177 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.7830+44G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 35/37 | chr8 | 60861169 | ||||||
| chr8:60861553
|
A | G | 1 | a0013c0012t0024g0187 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.7830+428A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 35/37 | chr8 | 60861553 | ||||||
| chr8:60861629
|
G | T | 1 | a0001c0002t0005g0162 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.7830+504G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 35/37 | chr8 | 60861629 | ||||||
| chr8:60861770
|
A | T | 1 | a0013c0012t0024g0187 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.7831-426A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 35/37 | chr8 | 60861770 | ||||||
| chr8:60861783
|
C | A | 1 | a0001c0001t0004g0045 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.7831-413C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 35/37 | chr8 | 60861783 | ||||||
| chr8:60861809
|
T | G | 1 | a0001c0001t0002g0201 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.7831-387T>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 35/37 | chr8 | 60861809 | ||||||
| chr8:60861962
|
G | T | 1 | a0001c0001t0003g0046 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.7831-234G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 35/37 | chr8 | 60861962 | ||||||
| chr8:60862134
|
T | C | 1 | a0001c0036t0026g0106 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.7831-62T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 35/37 | chr8 | 60862134 | ||||||
| chr8:60862799
|
C | A | 2 | a0001c0007t0005g0099a0001c0007t0035g0160 | 2 | HG03041.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.8076+147C>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 37/37 | chr8 | 60862799 | ||||||
| chr8:60862809
|
T | TAATACAT others(13): Show |
58 | a0001c0001t0009g0224a0001c0001t0009g0225a0001c0001t0009g0226others(55): Show | 58 | HG00099.hp1 HG00735.hp2 HG00741.hp2 others(55): Show |
intron_variant | MODIFIER | c.8076+168_8076+169i others(22): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr8 | 60862809 | |||||
| chr8:60862814
|
C | CATCA | 86 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(83): Show | 86 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(83): Show |
intron_variant | MODIFIER | c.8076+163_8076+166d others(6): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr8 | 60862814 | |||||
| chr8:60862961
|
A | G | 1 | a0001c0001t0013g0100 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.8076+309A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 37/37 | chr8 | 60862961 | ||||||
| chr8:60863003
|
AAAAAC | A | 38 | a0001c0001t0003g0021a0001c0001t0003g0078a0001c0001t0003g0080others(35): Show | 38 | HG00099.hp1 HG00735.hp2 HG01109.hp2 others(35): Show |
intron_variant | MODIFIER | c.8076+376_8076+380d others(7): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr8 | 60863003 | |||||
| chr8:60863003
|
AAAAACAA others(8): Show |
A | 24 | a0001c0001t0009g0224a0001c0001t0009g0225a0001c0001t0009g0226others(21): Show | 24 | HG00741.hp2 HG01069.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.8076+366_8076+380d others(17): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr8 | 60863003 | |||||
| chr8:60863083
|
C | T | 1 | a0013c0012t0024g0187 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.8076+431C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 37/37 | chr8 | 60863083 | ||||||
| chr8:60863135
|
G | A | 1 | a0004c0029t0008g0150 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.8076+483G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 37/37 | chr8 | 60863135 | ||||||
| chr8:60863187
|
G | A | 2 | a0001c0008t0010g0236a0001c0008t0014g0122 | 2 | HG02559.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.8076+535G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 37/37 | chr8 | 60863187 | ||||||
| chr8:60863241
|
C | T | 1 | a0003c0035t0038g0219 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.8076+589C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 37/37 | chr8 | 60863241 | ||||||
| chr8:60863279
|
C | G | 1 | a0001c0001t0001g0024 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.8076+627C>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 37/37 | chr8 | 60863279 | ||||||
| chr8:60863310
|
C | T | 14 | a0001c0001t0009g0224a0001c0001t0009g0225a0001c0001t0009g0226others(11): Show | 14 | HG01069.hp1 HG01070.hp1 HG01071.hp1 others(11): Show |
intron_variant | MODIFIER | c.8076+658C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 37/37 | chr8 | 60863310 | ||||||
| chr8:60863340
|
T | C | 1 | a0013c0012t0024g0187 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.8076+688T>C | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 37/37 | chr8 | 60863340 | ||||||
| chr8:60863378
|
C | T | 2 | a0001c0001t0017g0192a0001c0001t0017g0231 | 2 | HG02280.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.8076+726C>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 37/37 | chr8 | 60863378 | ||||||
| chr8:60863419
|
A | G | 1 | a0001c0006t0006g0096 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.8076+767A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 37/37 | chr8 | 60863419 | ||||||
| chr8:60863487
|
G | A | 1 | a0013c0012t0024g0187 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.8076+835G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 37/37 | chr8 | 60863487 | ||||||
| chr8:60863641
|
A | T | 1 | a0001c0010t0011g0159 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.8076+989A>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 37/37 | chr8 | 60863641 | ||||||
| chr8:60863726
|
ATCTTTTT others(3): Show |
A | 1 | a0001c0006t0006g0096 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.8076+1086_8076+109 others(14): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr8 | 60863726 | |||||
| chr8:60863738
|
C | CT | 6 | a0001c0001t0001g0007a0001c0001t0004g0036a0001c0001t0004g0045others(3): Show | 6 | HG01175.hp1 HG01175.hp2 HG02293.hp2 others(3): Show |
intron_variant | MODIFIER | c.8076+1104dupT | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr8 | 60863738 | |||||
| chr8:60864094
|
A | G | 19 | a0001c0001t0009g0224a0001c0001t0009g0225a0001c0001t0009g0226others(16): Show | 19 | HG00741.hp2 HG01069.hp1 HG01070.hp1 others(16): Show |
intron_variant | MODIFIER | c.8077-922A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 37/37 | chr8 | 60864094 | ||||||
| chr8:60864129
|
A | G | 3 | a0001c0001t0014g0221a0001c0001t0039g0220a0001c0001t0049g0029 | 3 | HG00741.hp2 HG02055.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.8077-887A>G | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 37/37 | chr8 | 60864129 | ||||||
| chr8:60864281
|
G | A | 4 | a0001c0001t0001g0004a0001c0001t0003g0046a0001c0001t0003g0047others(1): Show | 4 | HG00140.hp2 HG01515.hp2 HG03831.hp2 others(1): Show |
intron_variant | MODIFIER | c.8077-735G>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 37/37 | chr8 | 60864281 | ||||||
| chr8:60864284
|
T | TA | 21 | a0001c0001t0002g0074a0001c0001t0009g0224a0001c0001t0009g0225others(18): Show | 21 | HG00741.hp2 HG01069.hp1 HG01070.hp1 others(18): Show |
intron_variant | MODIFIER | c.8077-731dupA | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr8 | 60864284 | |||||
| chr8:60864286
|
T | A | 127 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(124): Show | 127 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(124): Show |
intron_variant | MODIFIER | c.8077-730T>A | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 37/37 | chr8 | 60864286 | ||||||
| chr8:60864564
|
G | T | 4 | a0001c0008t0010g0236a0001c0008t0014g0122a0001c0019t0010g0043others(1): Show | 4 | HG02451.hp1 HG02559.hp2 HG02970.hp1 others(1): Show |
intron_variant | MODIFIER | c.8077-452G>T | CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 37/37 | chr8 | 60864564 |