Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 388677 |
|---|---|
| ensemblid | ENSG00000264343.7 |
| hgncid | 31862 |
| symbol | NOTCH2NLA |
| name | notch 2 N-terminal like A |
| refseq_nuc | NM_203458.6 |
| refseq_prot | NP_982283.2 |
| ensembl_nuc | ENST00000362074.8 |
| ensembl_prot | ENSP00000354929.6 |
| mane_status | MANE Select |
| chr | chr1 |
| start | 146148865 |
| end | 146229021 |
| strand | - |
| ver | v1.2 |
| region | chr1:146148865-146229021 |
| region5000 | chr1:146143865-146234021 |
| regionname0 | NOTCH2NLA_chr1_146148865_146229021 |
| regionname5000 | NOTCH2NLA_chr1_146143865_146234021 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 236 | 58 | 7 | 4 | 33 | 2 | 12 | 21 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| a0002 | 0/0 | 236 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| a0003 | 0/0 | 236 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| chapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 0/0 | 711 | 56 | 7 | 4 | 31 | 2 | 12 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| c0002 | 0/0 | 711 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| c0003 | 0/0 | 711 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| c0004 | 0/0 | 711 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| c0005 | 0/0 | 711 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| thapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 0/0 | 7648 | 8 | 1 | 2 | 4 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| t0002 | 0/0 | 7646 | 6 | 0 | 1 | 4 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| t0003 | 0/0 | 7646 | 5 | 0 | 0 | 2 | 0 | 3 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| t0004 | 0/0 | 7648 | 3 | 0 | 0 | 1 | 1 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| t0005 | 0/0 | 7650 | 3 | 0 | 0 | 3 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| t0006 | 0/0 | 7642 | 2 | 0 | 0 | 2 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| t0007 | 0/0 | 7639 | 2 | 2 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| t0008 | 0/0 | 7641 | 2 | 0 | 0 | 2 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| t0009 | 0/0 | 7645 | 2 | 0 | 0 | 2 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| t0010 | 0/0 | 7626 | 2 | 0 | 0 | 1 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| t0011 | 0/0 | 7644 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| t0012 | 0/0 | 7650 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| t0013 | 0/0 | 7643 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| t0014 | 0/0 | 7641 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| t0015 | 0/0 | 7646 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| t0016 | 0/0 | 7635 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| t0017 | 0/0 | 7635 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| t0018 | 0/0 | 7641 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| t0019 | 0/0 | 7644 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| t0020 | 0/0 | 7646 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| t0021 | 0/0 | 7648 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| t0022 | 0/0 | 7649 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| t0023 | 0/0 | 7649 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| t0024 | 0/0 | 7649 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| t0025 | 0/0 | 7646 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| t0026 | 0/0 | 7651 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| t0027 | 0/0 | 7652 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| t0028 | 0/0 | 7631 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| t0029 | 0/0 | 7635 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| t0030 | 0/0 | 7641 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| t0031 | 0/0 | 7642 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| t0032 | 0/0 | 7626 | 1 | 0 | 0 | 0 | 1 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| t0033 | 0/0 | 7626 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| t0034 | 0/0 | 7626 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| t0035 | 0/0 | 7652 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0007 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0011 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0012 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0017 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0019 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0031 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0032 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0035 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0036 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0046 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0049 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0050 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0052 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0053 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 711 | 56 | 7 | 4 | 31 | 2 | 12 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| a0001c0003 | 0/0 | 711 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| a0001c0004 | 0/0 | 711 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| a0002c0005 | 0/0 | 711 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| a0003c0002 | 0/0 | 711 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 8358 | 8 | 1 | 2 | 4 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| a0001c0001t0002 | 0/0 | 8356 | 6 | 0 | 1 | 4 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| a0001c0001t0003 | 0/0 | 8356 | 5 | 0 | 0 | 2 | 0 | 3 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| a0001c0001t0004 | 0/0 | 8358 | 3 | 0 | 0 | 1 | 1 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| a0001c0001t0005 | 0/0 | 8360 | 3 | 0 | 0 | 3 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| a0001c0001t0006 | 0/0 | 8352 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| a0001c0001t0007 | 0/0 | 8349 | 2 | 2 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| a0001c0001t0008 | 0/0 | 8351 | 2 | 0 | 0 | 2 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| a0001c0001t0009 | 0/0 | 8355 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| a0001c0001t0010 | 0/0 | 8336 | 2 | 0 | 0 | 1 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| a0001c0001t0011 | 0/0 | 8354 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| a0001c0001t0012 | 0/0 | 8360 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| a0001c0001t0013 | 0/0 | 8353 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| a0001c0001t0014 | 0/0 | 8351 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| a0001c0001t0015 | 0/0 | 8356 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| a0001c0001t0016 | 0/0 | 8345 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| a0001c0001t0017 | 0/0 | 8345 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| a0001c0001t0018 | 0/0 | 8351 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| a0001c0001t0019 | 0/0 | 8354 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| a0001c0001t0020 | 0/0 | 8356 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| a0001c0001t0021 | 0/0 | 8358 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| a0001c0001t0022 | 0/0 | 8359 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| a0001c0001t0023 | 0/0 | 8359 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| a0001c0001t0025 | 0/0 | 8356 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| a0001c0001t0026 | 0/0 | 8361 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| a0001c0001t0027 | 0/0 | 8362 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| a0001c0001t0029 | 0/0 | 8345 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| a0001c0001t0030 | 0/0 | 8351 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| a0001c0001t0031 | 0/0 | 8352 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| a0001c0001t0032 | 0/0 | 8336 | 1 | 0 | 0 | 0 | 1 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| a0001c0001t0033 | 0/0 | 8336 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| a0001c0001t0034 | 0/0 | 8336 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| a0001c0001t0035 | 0/0 | 8362 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| a0001c0003t0009 | 0/0 | 8355 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| a0001c0004t0006 | 0/0 | 8352 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| a0002c0005t0024 | 0/0 | 8359 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| a0003c0002t0028 | 0/0 | 8341 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | copy fasta | chr1 | 146143865 | 146234021 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0001g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0001g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0001g0046 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0001g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0001g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0001g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0002g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0002g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0002g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0002g0007 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0002g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0002g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0003g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0003g0036 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0003g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0003g0050 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0003g0052 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0004g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0004g0011 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0004g0012 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0005g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0005g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0005g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0006g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0007g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0007g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0008g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0008g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0009g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0010g0017 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0010g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0011g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0012g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0013g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0014g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0015g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0016g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0017g0019 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0018g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0019g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0020g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0021g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0022g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0023g0053 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0025g0035 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0026g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0027g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0029g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0030g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0031g0049 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0032g0032 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0033g0031 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0034g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0035g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0003t0009g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0004t0006g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0002c0005t0024g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0003c0002t0028g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00408 | hp1 | a0001 | c0001 | t0022 | g0026 | EAS | CHS | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG00408 | hp2 | a0001 | c0001 | t0003 | g0047 | EAS | CHS | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG00558 | hp1 | a0001 | c0001 | t0018 | g0021 | EAS | CHS | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG00558 | hp2 | a0001 | c0001 | t0005 | g0044 | EAS | CHS | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG00597 | hp1 | a0001 | c0001 | t0010 | g0018 | EAS | CHS | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG00597 | hp2 | a0001 | c0001 | t0026 | g0045 | EAS | CHS | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG00639 | hp1 | a0001 | c0001 | t0002 | g0010 | AMR | PUR | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG00639 | hp2 | a0001 | c0001 | t0001 | g0040 | AMR | PUR | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG01099 | hp1 | a0001 | c0001 | t0034 | g0025 | AMR | PUR | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG01099 | hp2 | a0001 | c0001 | t0001 | g0059 | AMR | PUR | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG01515 | hp1 | a0001 | c0001 | t0004 | g0011 | EUR | IBS | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG01515 | hp2 | a0001 | c0001 | t0032 | g0032 | EUR | IBS | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG02132 | hp1 | a0001 | c0001 | t0008 | g0023 | EAS | KHV | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG02132 | hp2 | a0001 | c0001 | t0005 | g0042 | EAS | KHV | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG02155 | hp1 | a0001 | c0001 | t0001 | g0041 | EAS | CDX | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG02155 | hp2 | a0001 | c0001 | t0006 | g0004 | EAS | CDX | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG02523 | hp1 | a0001 | c0001 | t0002 | g0002 | EAS | KHV | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG02523 | hp2 | a0001 | c0001 | t0005 | g0043 | EAS | KHV | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG02735 | hp1 | a0001 | c0001 | t0002 | g0007 | SAS | PJL | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG02735 | hp2 | a0001 | c0001 | t0003 | g0036 | SAS | PJL | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG03130 | hp1 | a0003 | c0002 | t0028 | g0029 | AFR | ESN | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG03130 | hp2 | a0001 | c0001 | t0016 | g0034 | AFR | ESN | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG03225 | hp1 | a0001 | c0001 | t0014 | g0030 | AFR | MSL | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG03225 | hp2 | a0001 | c0001 | t0007 | g0016 | AFR | MSL | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG03453 | hp1 | a0001 | c0001 | t0029 | g0028 | AFR | MSL | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG03453 | hp2 | a0001 | c0001 | t0001 | g0048 | AFR | MSL | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG03654 | hp1 | a0001 | c0001 | t0003 | g0050 | SAS | PJL | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG03654 | hp2 | a0001 | c0001 | t0031 | g0049 | SAS | PJL | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG03688 | hp1 | a0001 | c0001 | t0004 | g0012 | SAS | STU | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG03688 | hp2 | a0001 | c0001 | t0003 | g0052 | SAS | STU | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG03927 | hp1 | a0001 | c0001 | t0010 | g0017 | SAS | BEB | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG03927 | hp2 | a0001 | c0001 | t0001 | g0046 | SAS | BEB | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG04199 | hp1 | a0001 | c0001 | t0023 | g0053 | SAS | STU | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG04199 | hp2 | a0001 | c0001 | t0033 | g0031 | SAS | STU | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG04204 | hp1 | a0001 | c0001 | t0017 | g0019 | SAS | STU | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG04204 | hp2 | a0001 | c0001 | t0025 | g0035 | SAS | STU | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA18952 | hp1 | a0001 | c0003 | t0009 | g0024 | EAS | JPT | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA18952 | hp2 | a0001 | c0001 | t0002 | g0003 | EAS | JPT | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA18953 | hp1 | a0002 | c0005 | t0024 | g0051 | EAS | JPT | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA18953 | hp2 | a0001 | c0004 | t0006 | g0013 | EAS | JPT | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA18974 | hp1 | a0001 | c0001 | t0012 | g0009 | EAS | JPT | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA18974 | hp2 | a0001 | c0001 | t0001 | g0038 | EAS | JPT | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA18990 | hp1 | a0001 | c0001 | t0004 | g0005 | EAS | JPT | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA18990 | hp2 | a0001 | c0001 | t0013 | g0001 | EAS | JPT | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA19007 | hp1 | a0001 | c0001 | t0008 | g0033 | EAS | JPT | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA19007 | hp2 | a0001 | c0001 | t0001 | g0037 | EAS | JPT | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA19057 | hp1 | a0001 | c0001 | t0002 | g0014 | EAS | JPT | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA19057 | hp2 | a0001 | c0001 | t0027 | g0054 | EAS | JPT | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA19062 | hp1 | a0001 | c0001 | t0019 | g0058 | EAS | JPT | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA19062 | hp2 | a0001 | c0001 | t0003 | g0027 | EAS | JPT | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA19066 | hp1 | a0001 | c0001 | t0030 | g0022 | EAS | JPT | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA19066 | hp2 | a0001 | c0001 | t0020 | g0057 | EAS | JPT | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA19079 | hp1 | a0001 | c0001 | t0001 | g0055 | EAS | JPT | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA19079 | hp2 | a0001 | c0001 | t0015 | g0039 | EAS | JPT | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA19085 | hp1 | a0001 | c0001 | t0009 | g0020 | EAS | JPT | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA19085 | hp2 | a0001 | c0001 | t0002 | g0006 | EAS | JPT | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA19091 | hp1 | a0001 | c0001 | t0011 | g0008 | EAS | JPT | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA19091 | hp2 | a0001 | c0001 | t0021 | g0056 | EAS | JPT | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA20300 | hp1 | a0001 | c0001 | t0007 | g0015 | AFR | USA | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA20300 | hp2 | a0001 | c0001 | t0035 | g0060 | AFR | USA | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:146164999
|
C | A | 1 | a0002 | 1 | NA18953.hp1 | missense_variant | MODERATE | c.50G>T | p.Gly17Val | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/5 | 407/8356 | 50/711 | 17/236 | chr1 | 146164999 | ||
| chr1:146165009
|
A | C | 1 | a0003 | 1 | HG03130.hp1 | missense_variant&splice_region_variant | MODERATE | c.40T>G | p.Cys14Gly | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/5 | 397/8356 | 40/711 | 14/236 | chr1 | 146165009 |
| chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:146156619
|
G | A | 1 | a0001c0004 | 1 | NA18953.hp2 | synonymous_variant | LOW | c.495C>T | p.Ser165Ser | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 4/5 | 852/8356 | 495/711 | 165/236 | chr1 | 146156619 | ||
| chr1:146164899
|
C | T | 1 | a0001c0003 | 1 | NA18952.hp1 | synonymous_variant | LOW | c.150G>A | p.Thr50Thr | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/5 | 507/8356 | 150/711 | 50/236 | chr1 | 146164899 |
| chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:146149101
|
A | G | 6 | a0001c0001t0008a0001c0001t0009a0001c0001t0013others(3): Show | 7 | HG02132.hp1 HG03225.hp1 NA18952.hp1 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*7052T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 5/5 | 7052 | chr1 | 146149101 | |||||
| chr1:146149400
|
A | C | 7 | a0001c0001t0010a0001c0001t0017a0001c0001t0029others(4): Show | 8 | HG00597.hp1 HG01099.hp1 HG01515.hp2 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*6753T>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 5/5 | 6753 | chr1 | 146149400 | |||||
| chr1:146150068
|
C | A | 4 | a0001c0001t0010a0001c0001t0032a0001c0001t0033others(1): Show | 5 | HG00597.hp1 HG01099.hp1 HG01515.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*6085G>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 5/5 | 6085 | chr1 | 146150068 | |||||
| chr1:146150530
|
A | G | 25 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(22): Show | 40 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(37): Show |
3_prime_UTR_variant | MODIFIER | c.*5623T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 5/5 | 5623 | chr1 | 146150530 | |||||
| chr1:146150571
|
C | T | 1 | a0001c0001t0032 | 1 | HG01515.hp2 | 3_prime_UTR_variant | MODIFIER | c.*5582G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 5/5 | 5582 | chr1 | 146150571 | |||||
| chr1:146150645
|
C | G | 6 | a0001c0001t0008a0001c0001t0009a0001c0001t0013others(3): Show | 7 | HG02132.hp1 HG03225.hp1 NA18952.hp1 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*5508G>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 5/5 | 5508 | chr1 | 146150645 | |||||
| chr1:146150966
|
G | A | 1 | a0002c0005t0024 | 1 | NA18953.hp1 | 3_prime_UTR_variant | MODIFIER | c.*5187C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 5/5 | 5187 | chr1 | 146150966 | |||||
| chr1:146151125
|
C | G | 3 | a0001c0001t0007a0001c0001t0017a0001c0001t0019 | 4 | HG03225.hp2 HG04204.hp1 NA19062.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*5028G>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 5/5 | 5028 | chr1 | 146151125 | |||||
| chr1:146151317
|
C | CA | 6 | a0001c0001t0008a0001c0001t0009a0001c0001t0013others(3): Show | 7 | HG02132.hp1 HG03225.hp1 NA18952.hp1 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*4835dupT | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 5/5 | 4835 | chr1 | 146151317 | |||||
| chr1:146151317
|
CA | C | 14 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(11): Show | 28 | HG00408.hp2 HG00558.hp1 HG00558.hp2 others(25): Show |
3_prime_UTR_variant | MODIFIER | c.*4835delT | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 5/5 | 4835 | chr1 | 146151317 | |||||
| chr1:146151334
|
A | G | 2 | a0001c0001t0016a0001c0001t0022 | 2 | HG00408.hp1 HG03130.hp2 |
3_prime_UTR_variant | MODIFIER | c.*4819T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 5/5 | 4819 | chr1 | 146151334 | |||||
| chr1:146151528
|
G | A | 12 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | 25 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(22): Show |
3_prime_UTR_variant | MODIFIER | c.*4625C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 5/5 | 4625 | chr1 | 146151528 | |||||
| chr1:146151547
|
C | A | 1 | a0001c0001t0033 | 1 | HG04199.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4606G>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 5/5 | 4606 | chr1 | 146151547 | |||||
| chr1:146151576
|
T | C | 13 | a0001c0001t0008a0001c0001t0009a0001c0001t0010others(10): Show | 15 | HG00597.hp1 HG01099.hp1 HG01515.hp2 others(12): Show |
3_prime_UTR_variant | MODIFIER | c.*4577A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 5/5 | 4577 | chr1 | 146151576 | |||||
| chr1:146151715
|
G | T | 8 | a0001c0001t0008a0001c0001t0009a0001c0001t0013others(5): Show | 9 | HG02132.hp1 HG03130.hp1 HG03225.hp1 others(6): Show |
3_prime_UTR_variant | MODIFIER | c.*4438C>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 5/5 | 4438 | chr1 | 146151715 | |||||
| chr1:146151906
|
G | C | 13 | a0001c0001t0008a0001c0001t0009a0001c0001t0010others(10): Show | 15 | HG00597.hp1 HG01099.hp1 HG01515.hp2 others(12): Show |
3_prime_UTR_variant | MODIFIER | c.*4247C>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 5/5 | 4247 | chr1 | 146151906 | |||||
| chr1:146151932
|
T | C | 2 | a0001c0001t0029a0003c0002t0028 | 2 | HG03130.hp1 HG03453.hp1 |
3_prime_UTR_variant | MODIFIER | c.*4221A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 5/5 | 4221 | chr1 | 146151932 | |||||
| chr1:146152016
|
A | G | 1 | a0001c0001t0016 | 1 | HG03130.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4137T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 5/5 | 4137 | chr1 | 146152016 | |||||
| chr1:146152352
|
T | C | 4 | a0001c0001t0010a0001c0001t0032a0001c0001t0033others(1): Show | 5 | HG00597.hp1 HG01099.hp1 HG01515.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*3801A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 5/5 | 3801 | chr1 | 146152352 | |||||
| chr1:146152434
|
G | GA | 12 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | 25 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(22): Show |
3_prime_UTR_variant | MODIFIER | c.*3718dupT | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 5/5 | 3718 | chr1 | 146152434 | |||||
| chr1:146153275
|
G | A | 1 | a0001c0001t0034 | 1 | HG01099.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2878C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 5/5 | 2878 | chr1 | 146153275 | |||||
| chr1:146153295
|
T | C | 12 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | 25 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(22): Show |
3_prime_UTR_variant | MODIFIER | c.*2858A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 5/5 | 2858 | chr1 | 146153295 | |||||
| chr1:146153552
|
C | T | 2 | a0001c0001t0029a0003c0002t0028 | 2 | HG03130.hp1 HG03453.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2601G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 5/5 | 2601 | chr1 | 146153552 | |||||
| chr1:146153807
|
T | C | 1 | a0001c0001t0030 | 1 | NA19066.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2346A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 5/5 | 2346 | chr1 | 146153807 | |||||
| chr1:146154001
|
C | T | 6 | a0001c0001t0008a0001c0001t0009a0001c0001t0013others(3): Show | 7 | HG02132.hp1 HG03225.hp1 NA18952.hp1 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*2152G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 5/5 | 2152 | chr1 | 146154001 | |||||
| chr1:146154006
|
T | C | 1 | a0001c0001t0025 | 1 | HG04204.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2147A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 5/5 | 2147 | chr1 | 146154006 | |||||
| chr1:146154006
|
T | TAC | 6 | a0001c0001t0001a0001c0001t0004a0001c0001t0021others(3): Show | 15 | HG00408.hp1 HG00639.hp2 HG01099.hp2 others(12): Show |
3_prime_UTR_variant | MODIFIER | c.*2145_*2146dupGT | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 5/5 | 2146 | chr1 | 146154006 | |||||
| chr1:146154006
|
T | TACAC | 3 | a0001c0001t0005a0001c0001t0012a0001c0001t0026 | 5 | HG00558.hp2 HG00597.hp2 HG02132.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*2143_*2146dupGTGT | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 5/5 | 2146 | chr1 | 146154006 | |||||
| chr1:146154006
|
T | TACACAC | 2 | a0001c0001t0027a0001c0001t0035 | 2 | NA19057.hp2 NA20300.hp2 |
3_prime_UTR_variant | MODIFIER | c.*2141_*2146dupGTGT others(2): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 5/5 | 2146 | chr1 | 146154006 | |||||
| chr1:146154006
|
TAC | T | 4 | a0001c0001t0009a0001c0001t0011a0001c0001t0019others(1): Show | 4 | NA18952.hp1 NA19062.hp1 NA19085.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*2145_*2146delGT | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 5/5 | 2145 | chr1 | 146154006 | |||||
| chr1:146154006
|
TACAC | T | 5 | a0001c0001t0006a0001c0001t0013a0001c0001t0018others(2): Show | 5 | HG00558.hp1 HG02155.hp2 HG03654.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*2143_*2146delGTGT | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 5/5 | 2143 | chr1 | 146154006 | |||||
| chr1:146154006
|
TACACAC | T | 4 | a0001c0001t0007a0001c0001t0008a0001c0001t0014others(1): Show | 6 | HG02132.hp1 HG03225.hp1 HG03225.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*2141_*2146delGTGT others(2): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 5/5 | 2141 | chr1 | 146154006 | |||||
| chr1:146154006
|
TACACACA others(3): Show |
T | 3 | a0001c0001t0016a0001c0001t0017a0001c0001t0029 | 3 | HG03130.hp2 HG03453.hp1 HG04204.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2137_*2146delGTGT others(6): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 5/5 | 2137 | chr1 | 146154006 | |||||
| chr1:146154006
|
TACACACA others(7): Show |
T | 1 | a0003c0002t0028 | 1 | HG03130.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2133_*2146delGTGT others(10): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 5/5 | 2133 | chr1 | 146154006 | |||||
| chr1:146154006
|
TACACACA others(13): Show |
T | 4 | a0001c0001t0010a0001c0001t0032a0001c0001t0033others(1): Show | 5 | HG00597.hp1 HG01099.hp1 HG01515.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*2127_*2146delGTGT others(16): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 5/5 | 2127 | chr1 | 146154006 | |||||
| chr1:146154017
|
A | C | 1 | a0001c0001t0008 | 2 | HG02132.hp1 NA19007.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2136T>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 5/5 | 2136 | chr1 | 146154017 | |||||
| chr1:146154198
|
G | A | 4 | a0001c0001t0010a0001c0001t0032a0001c0001t0033others(1): Show | 5 | HG00597.hp1 HG01099.hp1 HG01515.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*1955C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 5/5 | 1955 | chr1 | 146154198 | |||||
| chr1:146154204
|
G | A | 12 | a0001c0001t0008a0001c0001t0009a0001c0001t0010others(9): Show | 14 | HG00597.hp1 HG01099.hp1 HG01515.hp2 others(11): Show |
3_prime_UTR_variant | MODIFIER | c.*1949C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 5/5 | 1949 | chr1 | 146154204 | |||||
| chr1:146155209
|
G | C | 1 | a0001c0001t0031 | 1 | HG03654.hp2 | 3_prime_UTR_variant | MODIFIER | c.*944C>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 5/5 | 944 | chr1 | 146155209 | |||||
| chr1:146155387
|
C | T | 1 | a0001c0001t0015 | 1 | NA19079.hp2 | 3_prime_UTR_variant | MODIFIER | c.*766G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 5/5 | 766 | chr1 | 146155387 | |||||
| chr1:146155584
|
T | G | 4 | a0001c0001t0010a0001c0001t0032a0001c0001t0033others(1): Show | 5 | HG00597.hp1 HG01099.hp1 HG01515.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*569A>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 5/5 | 569 | chr1 | 146155584 | |||||
| chr1:146155665
|
A | G | 1 | a0001c0001t0014 | 1 | HG03225.hp1 | 3_prime_UTR_variant | MODIFIER | c.*488T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 5/5 | 488 | chr1 | 146155665 | |||||
| chr1:146228815
|
G | C | 30 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(27): Show | 46 | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(43): Show |
5_prime_UTR_variant | MODIFIER | c.-151C>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/5 | 39478 | chr1 | 146228815 | |||||
| chr1:146229003
|
C | A | 1 | a0001c0001t0035 | 1 | NA20300.hp2 | 5_prime_UTR_variant | MODIFIER | c.-339G>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/5 | 39666 | chr1 | 146229003 |
| chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:146156309
|
T | C | 1 | a0001c0001t0005g0042 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.635-80A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 4/4 | chr1 | 146156309 | ||||||
| chr1:146156360
|
A | C | 25 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(22): Show | 25 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(22): Show |
intron_variant | MODIFIER | c.634+120T>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 4/4 | chr1 | 146156360 | ||||||
| chr1:146157290
|
C | G | 1 | a0001c0001t0017g0019 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.299-475G>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146157290 | ||||||
| chr1:146157325
|
C | T | 2 | a0001c0001t0029g0028a0003c0002t0028g0029 | 2 | HG03130.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.299-510G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146157325 | ||||||
| chr1:146157587
|
G | C | 44 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(41): Show | 44 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(41): Show |
intron_variant | MODIFIER | c.299-772C>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146157587 | ||||||
| chr1:146157987
|
T | C | 1 | a0001c0001t0001g0048 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.299-1172A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146157987 | ||||||
| chr1:146158123
|
C | T | 2 | a0001c0001t0007g0015a0001c0001t0007g0016 | 2 | HG03225.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.299-1308G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146158123 | ||||||
| chr1:146158230
|
T | C | 1 | a0001c0001t0011g0008 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.299-1415A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146158230 | ||||||
| chr1:146158290
|
C | T | 1 | a0001c0001t0003g0027 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.299-1475G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146158290 | ||||||
| chr1:146158362
|
G | A | 1 | a0001c0001t0013g0001 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.299-1547C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146158362 | ||||||
| chr1:146158366
|
C | T | 1 | a0001c0001t0014g0030 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.299-1551G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146158366 | ||||||
| chr1:146158664
|
T | A | 2 | a0001c0001t0002g0002a0001c0001t0002g0006 | 2 | HG02523.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.299-1849A>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146158664 | ||||||
| chr1:146159261
|
G | A | 1 | a0001c0001t0014g0030 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.299-2446C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146159261 | ||||||
| chr1:146159393
|
G | GAGAA | 21 | a0001c0001t0001g0038a0001c0001t0001g0040a0001c0001t0001g0041others(18): Show | 21 | HG00558.hp1 HG00639.hp2 HG01515.hp1 others(18): Show |
intron_variant | MODIFIER | c.299-2582_299-2579d others(6): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146159393 | ||||||
| chr1:146159393
|
G | GAGAAAGA others(1): Show |
10 | a0001c0001t0001g0048a0001c0001t0002g0002a0001c0001t0002g0007others(7): Show | 10 | HG00408.hp1 HG00408.hp2 HG02132.hp2 others(7): Show |
intron_variant | MODIFIER | c.299-2586_299-2579d others(10): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146159393 | ||||||
| chr1:146159393
|
G | GAGAAAGA others(5): Show |
1 | a0001c0001t0026g0045 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.299-2590_299-2579d others(14): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146159393 | ||||||
| chr1:146159393
|
G | GAGAAAGA others(9): Show |
2 | a0001c0001t0011g0008a0001c0001t0020g0057 | 2 | NA19066.hp2 NA19091.hp1 |
intron_variant | MODIFIER | c.299-2594_299-2579d others(18): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146159393 | ||||||
| chr1:146159393
|
GAGAA | G | 8 | a0001c0001t0002g0006a0001c0001t0002g0010a0001c0001t0003g0050others(5): Show | 8 | HG00639.hp1 HG02132.hp1 HG03654.hp1 others(5): Show |
intron_variant | MODIFIER | c.299-2582_299-2579d others(6): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146159393 | ||||||
| chr1:146159393
|
GAGAAAGA others(1): Show |
G | 3 | a0001c0001t0005g0044a0001c0001t0007g0015a0001c0001t0029g0028 | 3 | HG00558.hp2 HG03453.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.299-2586_299-2579d others(10): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146159393 | ||||||
| chr1:146159393
|
GAGAAAGA others(9): Show |
G | 1 | a0003c0002t0028g0029 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.299-2594_299-2579d others(18): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146159393 | ||||||
| chr1:146159440
|
A | AAAGAAAG others(4): Show |
1 | a0001c0001t0012g0009 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.299-2626_299-2625i others(13): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146159440 | ||||||
| chr1:146159659
|
T | C | 1 | a0001c0001t0022g0026 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.299-2844A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146159659 | ||||||
| chr1:146159834
|
G | A | 25 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(22): Show | 25 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(22): Show |
intron_variant | MODIFIER | c.299-3019C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146159834 | ||||||
| chr1:146159966
|
C | CA | 14 | a0001c0001t0002g0002a0001c0001t0004g0011a0001c0001t0004g0012others(11): Show | 14 | HG00597.hp1 HG01515.hp1 HG02523.hp1 others(11): Show |
intron_variant | MODIFIER | c.299-3152dupT | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146159966 | ||||||
| chr1:146159966
|
C | CAAAAAAA | 11 | a0001c0001t0001g0038a0001c0001t0001g0040a0001c0001t0001g0055others(8): Show | 11 | HG00408.hp1 HG00558.hp2 HG00639.hp2 others(8): Show |
intron_variant | MODIFIER | c.299-3158_299-3152d others(9): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146159966 | ||||||
| chr1:146159966
|
C | CAAAAAAA others(1): Show |
5 | a0001c0001t0001g0041a0001c0001t0003g0050a0001c0001t0003g0052others(2): Show | 5 | HG02155.hp1 HG03654.hp1 HG03688.hp2 others(2): Show |
intron_variant | MODIFIER | c.299-3159_299-3152d others(10): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146159966 | ||||||
| chr1:146159966
|
C | CAAAAAAA others(3): Show |
1 | a0001c0001t0026g0045 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.299-3161_299-3152d others(12): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146159966 | ||||||
| chr1:146160418
|
TA | T | 5 | a0001c0001t0010g0017a0001c0001t0010g0018a0001c0001t0032g0032others(2): Show | 5 | HG00597.hp1 HG01099.hp1 HG01515.hp2 others(2): Show |
intron_variant | MODIFIER | c.299-3604delT | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146160418 | ||||||
| chr1:146160439
|
T | C | 5 | a0001c0001t0010g0017a0001c0001t0010g0018a0001c0001t0032g0032others(2): Show | 5 | HG00597.hp1 HG01099.hp1 HG01515.hp2 others(2): Show |
intron_variant | MODIFIER | c.299-3624A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146160439 | ||||||
| chr1:146160984
|
T | C | 7 | a0001c0001t0008g0023a0001c0001t0008g0033a0001c0001t0009g0020others(4): Show | 7 | HG02132.hp1 HG03225.hp1 NA18952.hp1 others(4): Show |
intron_variant | MODIFIER | c.298+3767A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146160984 | ||||||
| chr1:146161050
|
T | C | 7 | a0001c0001t0008g0023a0001c0001t0008g0033a0001c0001t0009g0020others(4): Show | 7 | HG02132.hp1 HG03225.hp1 NA18952.hp1 others(4): Show |
intron_variant | MODIFIER | c.298+3701A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146161050 | ||||||
| chr1:146161188
|
C | T | 6 | a0001c0001t0008g0023a0001c0001t0008g0033a0001c0001t0013g0001others(3): Show | 6 | HG02132.hp1 HG03225.hp1 NA18952.hp1 others(3): Show |
intron_variant | MODIFIER | c.298+3563G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146161188 | ||||||
| chr1:146161434
|
T | C | 1 | a0001c0001t0001g0048 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.298+3317A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146161434 | ||||||
| chr1:146161580
|
T | C | 44 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(41): Show | 44 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(41): Show |
intron_variant | MODIFIER | c.298+3171A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146161580 | ||||||
| chr1:146161636
|
T | C | 15 | a0001c0001t0008g0023a0001c0001t0008g0033a0001c0001t0009g0020others(12): Show | 15 | HG00597.hp1 HG01099.hp1 HG01515.hp2 others(12): Show |
intron_variant | MODIFIER | c.298+3115A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146161636 | ||||||
| chr1:146161702
|
C | T | 1 | a0001c0001t0027g0054 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.298+3049G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146161702 | ||||||
| chr1:146161787
|
A | G | 1 | a0003c0002t0028g0029 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.298+2964T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146161787 | ||||||
| chr1:146161797
|
T | C | 1 | a0001c0001t0016g0034 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.298+2954A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146161797 | ||||||
| chr1:146161930
|
T | TGGTCCCG others(14): Show |
15 | a0001c0001t0008g0023a0001c0001t0008g0033a0001c0001t0009g0020others(12): Show | 15 | HG00597.hp1 HG01099.hp1 HG01515.hp2 others(12): Show |
intron_variant | MODIFIER | c.298+2820_298+2821i others(23): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146161930 | ||||||
| chr1:146161997
|
G | T | 5 | a0001c0001t0010g0017a0001c0001t0010g0018a0001c0001t0032g0032others(2): Show | 5 | HG00597.hp1 HG01099.hp1 HG01515.hp2 others(2): Show |
intron_variant | MODIFIER | c.298+2754C>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146161997 | ||||||
| chr1:146162162
|
C | T | 8 | a0001c0001t0008g0023a0001c0001t0008g0033a0001c0001t0009g0020others(5): Show | 8 | HG02132.hp1 HG03130.hp1 HG03453.hp1 others(5): Show |
intron_variant | MODIFIER | c.298+2589G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146162162 | ||||||
| chr1:146162361
|
C | T | 2 | a0001c0001t0029g0028a0003c0002t0028g0029 | 2 | HG03130.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.298+2390G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146162361 | ||||||
| chr1:146162516
|
T | C | 15 | a0001c0001t0008g0023a0001c0001t0008g0033a0001c0001t0009g0020others(12): Show | 15 | HG00597.hp1 HG01099.hp1 HG01515.hp2 others(12): Show |
intron_variant | MODIFIER | c.298+2235A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146162516 | ||||||
| chr1:146162789
|
A | T | 1 | a0001c0001t0001g0048 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.298+1962T>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146162789 | ||||||
| chr1:146162795
|
A | T | 1 | a0001c0001t0016g0034 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.298+1956T>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146162795 | ||||||
| chr1:146163332
|
G | T | 1 | a0003c0002t0028g0029 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.298+1419C>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146163332 | ||||||
| chr1:146163503
|
A | G | 1 | a0001c0001t0025g0035 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.298+1248T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146163503 | ||||||
| chr1:146163693
|
A | C | 1 | a0003c0002t0028g0029 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.298+1058T>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146163693 | ||||||
| chr1:146163913
|
G | A | 7 | a0001c0001t0008g0023a0001c0001t0008g0033a0001c0001t0009g0020others(4): Show | 7 | HG02132.hp1 HG03225.hp1 NA18952.hp1 others(4): Show |
intron_variant | MODIFIER | c.298+838C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146163913 | ||||||
| chr1:146164199
|
A | AT | 7 | a0001c0001t0008g0023a0001c0001t0008g0033a0001c0001t0009g0020others(4): Show | 7 | HG02132.hp1 HG03225.hp1 NA18952.hp1 others(4): Show |
intron_variant | MODIFIER | c.298+551dupA | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146164199 | ||||||
| chr1:146164201
|
A | T | 33 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(30): Show | 33 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(30): Show |
intron_variant | MODIFIER | c.298+550T>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146164201 | ||||||
| chr1:146164417
|
C | A | 1 | a0003c0002t0028g0029 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.298+334G>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146164417 | ||||||
| chr1:146164494
|
G | A | 2 | a0001c0001t0029g0028a0003c0002t0028g0029 | 2 | HG03130.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.298+257C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146164494 | ||||||
| chr1:146164624
|
T | G | 1 | a0003c0002t0028g0029 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.298+127A>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146164624 | ||||||
| chr1:146164690
|
G | C | 1 | a0001c0001t0002g0002 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.298+61C>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 3/4 | chr1 | 146164690 | ||||||
| chr1:146165233
|
G | C | 39 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(36): Show | 39 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(36): Show |
intron_variant | MODIFIER | c.39-223C>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146165233 | ||||||
| chr1:146165364
|
G | A | 5 | a0001c0001t0010g0017a0001c0001t0010g0018a0001c0001t0032g0032others(2): Show | 5 | HG00597.hp1 HG01099.hp1 HG01515.hp2 others(2): Show |
intron_variant | MODIFIER | c.39-354C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146165364 | ||||||
| chr1:146165567
|
A | C | 14 | a0001c0001t0008g0023a0001c0001t0008g0033a0001c0001t0009g0020others(11): Show | 14 | HG00597.hp1 HG01099.hp1 HG01515.hp2 others(11): Show |
intron_variant | MODIFIER | c.39-557T>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146165567 | ||||||
| chr1:146165686
|
T | G | 1 | a0001c0001t0001g0055 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.39-676A>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146165686 | ||||||
| chr1:146165795
|
C | T | 2 | a0001c0001t0003g0027a0001c0001t0003g0047 | 2 | HG00408.hp2 NA19062.hp2 |
intron_variant | MODIFIER | c.39-785G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146165795 | ||||||
| chr1:146166134
|
A | C | 7 | a0001c0001t0001g0055a0001c0001t0010g0017a0001c0001t0010g0018others(4): Show | 7 | HG00597.hp1 HG01099.hp1 HG01515.hp2 others(4): Show |
intron_variant | MODIFIER | c.39-1124T>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146166134 | ||||||
| chr1:146166344
|
G | A | 3 | a0001c0001t0009g0020a0001c0001t0029g0028a0003c0002t0028g0029 | 3 | HG03130.hp1 HG03453.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.39-1334C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146166344 | ||||||
| chr1:146166953
|
T | C | 1 | a0001c0001t0007g0015 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.39-1943A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146166953 | ||||||
| chr1:146166990
|
T | A | 1 | a0001c0001t0021g0056 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.39-1980A>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146166990 | ||||||
| chr1:146167040
|
C | T | 1 | a0001c0001t0034g0025 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.39-2030G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146167040 | ||||||
| chr1:146167078
|
C | T | 2 | a0001c0001t0029g0028a0003c0002t0028g0029 | 2 | HG03130.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.39-2068G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146167078 | ||||||
| chr1:146167454
|
G | A | 1 | a0003c0002t0028g0029 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.39-2444C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146167454 | ||||||
| chr1:146168277
|
T | C | 1 | a0001c0001t0030g0022 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.39-3267A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146168277 | ||||||
| chr1:146168480
|
T | C | 2 | a0001c0001t0029g0028a0003c0002t0028g0029 | 2 | HG03130.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.39-3470A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146168480 | ||||||
| chr1:146168564
|
C | A | 7 | a0001c0001t0008g0023a0001c0001t0008g0033a0001c0001t0009g0020others(4): Show | 7 | HG02132.hp1 HG03225.hp1 NA18952.hp1 others(4): Show |
intron_variant | MODIFIER | c.39-3554G>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146168564 | ||||||
| chr1:146168691
|
T | C | 2 | a0001c0001t0003g0027a0001c0001t0003g0047 | 2 | HG00408.hp2 NA19062.hp2 |
intron_variant | MODIFIER | c.39-3681A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146168691 | ||||||
| chr1:146168753
|
T | C | 5 | a0001c0001t0010g0017a0001c0001t0010g0018a0001c0001t0032g0032others(2): Show | 5 | HG00597.hp1 HG01099.hp1 HG01515.hp2 others(2): Show |
intron_variant | MODIFIER | c.39-3743A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146168753 | ||||||
| chr1:146168762
|
C | T | 7 | a0001c0001t0008g0023a0001c0001t0008g0033a0001c0001t0009g0020others(4): Show | 7 | HG02132.hp1 HG03225.hp1 NA18952.hp1 others(4): Show |
intron_variant | MODIFIER | c.39-3752G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146168762 | ||||||
| chr1:146168965
|
C | T | 1 | a0001c0001t0016g0034 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.39-3955G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146168965 | ||||||
| chr1:146168992
|
T | C | 7 | a0001c0001t0008g0023a0001c0001t0008g0033a0001c0001t0009g0020others(4): Show | 7 | HG02132.hp1 HG03225.hp1 NA18952.hp1 others(4): Show |
intron_variant | MODIFIER | c.39-3982A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146168992 | ||||||
| chr1:146169256
|
C | T | 1 | a0001c0001t0007g0016 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.39-4246G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146169256 | ||||||
| chr1:146169689
|
C | T | 1 | a0001c0001t0032g0032 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.39-4679G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146169689 | ||||||
| chr1:146169953
|
G | A | 45 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(42): Show | 45 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(42): Show |
intron_variant | MODIFIER | c.39-4943C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146169953 | ||||||
| chr1:146169983
|
G | A | 1 | a0001c0001t0022g0026 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.39-4973C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146169983 | ||||||
| chr1:146170015
|
T | C | 7 | a0001c0001t0008g0023a0001c0001t0008g0033a0001c0001t0009g0020others(4): Show | 7 | HG02132.hp1 HG03225.hp1 NA18952.hp1 others(4): Show |
intron_variant | MODIFIER | c.39-5005A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146170015 | ||||||
| chr1:146170033
|
G | T | 1 | a0001c0001t0004g0011 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.39-5023C>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146170033 | ||||||
| chr1:146170429
|
C | G | 5 | a0001c0001t0010g0017a0001c0001t0010g0018a0001c0001t0032g0032others(2): Show | 5 | HG00597.hp1 HG01099.hp1 HG01515.hp2 others(2): Show |
intron_variant | MODIFIER | c.39-5419G>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146170429 | ||||||
| chr1:146170487
|
G | A | 1 | a0001c0004t0006g0013 | 1 | NA18953.hp2 | intron_variant | MODIFIER | c.39-5477C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146170487 | ||||||
| chr1:146170635
|
G | A | 14 | a0001c0001t0008g0023a0001c0001t0008g0033a0001c0001t0009g0020others(11): Show | 14 | HG00597.hp1 HG01099.hp1 HG01515.hp2 others(11): Show |
intron_variant | MODIFIER | c.39-5625C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146170635 | ||||||
| chr1:146170823
|
G | A | 25 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(22): Show | 25 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(22): Show |
intron_variant | MODIFIER | c.39-5813C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146170823 | ||||||
| chr1:146170875
|
T | C | 7 | a0001c0001t0008g0023a0001c0001t0008g0033a0001c0001t0009g0020others(4): Show | 7 | HG02132.hp1 HG03225.hp1 NA18952.hp1 others(4): Show |
intron_variant | MODIFIER | c.39-5865A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146170875 | ||||||
| chr1:146170985
|
C | T | 7 | a0001c0001t0010g0017a0001c0001t0010g0018a0001c0001t0029g0028others(4): Show | 7 | HG00597.hp1 HG01099.hp1 HG01515.hp2 others(4): Show |
intron_variant | MODIFIER | c.39-5975G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146170985 | ||||||
| chr1:146171001
|
A | G | 2 | a0001c0001t0018g0021a0001c0004t0006g0013 | 2 | HG00558.hp1 NA18953.hp2 |
intron_variant | MODIFIER | c.39-5991T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146171001 | ||||||
| chr1:146171368
|
T | A | 2 | a0001c0001t0029g0028a0003c0002t0028g0029 | 2 | HG03130.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.39-6358A>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146171368 | ||||||
| chr1:146171389
|
C | T | 6 | a0001c0001t0010g0017a0001c0001t0029g0028a0001c0001t0032g0032others(3): Show | 6 | HG01099.hp1 HG01515.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.39-6379G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146171389 | ||||||
| chr1:146171749
|
A | C | 2 | a0001c0001t0029g0028a0003c0002t0028g0029 | 2 | HG03130.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.39-6739T>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146171749 | ||||||
| chr1:146171798
|
T | C | 1 | a0001c0001t0004g0005 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.39-6788A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146171798 | ||||||
| chr1:146172028
|
A | C | 2 | a0001c0001t0010g0017a0001c0001t0034g0025 | 2 | HG01099.hp1 HG03927.hp1 |
intron_variant | MODIFIER | c.39-7018T>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146172028 | ||||||
| chr1:146172217
|
T | C | 13 | a0001c0001t0008g0023a0001c0001t0008g0033a0001c0001t0009g0020others(10): Show | 13 | HG01515.hp2 HG02132.hp1 HG03130.hp1 others(10): Show |
intron_variant | MODIFIER | c.39-7207A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146172217 | ||||||
| chr1:146172487
|
C | G | 2 | a0001c0001t0029g0028a0003c0002t0028g0029 | 2 | HG03130.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.39-7477G>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146172487 | ||||||
| chr1:146172499
|
A | G | 8 | a0001c0001t0008g0023a0001c0001t0008g0033a0001c0001t0009g0020others(5): Show | 8 | HG02132.hp1 HG03225.hp1 NA18952.hp1 others(5): Show |
intron_variant | MODIFIER | c.39-7489T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146172499 | ||||||
| chr1:146172537
|
G | A | 2 | a0001c0001t0029g0028a0003c0002t0028g0029 | 2 | HG03130.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.39-7527C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146172537 | ||||||
| chr1:146172672
|
C | T | 2 | a0001c0001t0029g0028a0003c0002t0028g0029 | 2 | HG03130.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.39-7662G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146172672 | ||||||
| chr1:146172733
|
G | A | 2 | a0001c0001t0029g0028a0003c0002t0028g0029 | 2 | HG03130.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.39-7723C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146172733 | ||||||
| chr1:146172822
|
C | G | 5 | a0001c0001t0010g0017a0001c0001t0029g0028a0001c0001t0032g0032others(2): Show | 5 | HG01515.hp2 HG03130.hp1 HG03453.hp1 others(2): Show |
intron_variant | MODIFIER | c.39-7812G>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146172822 | ||||||
| chr1:146172867
|
A | C | 5 | a0001c0001t0010g0017a0001c0001t0029g0028a0001c0001t0032g0032others(2): Show | 5 | HG01515.hp2 HG03130.hp1 HG03453.hp1 others(2): Show |
intron_variant | MODIFIER | c.39-7857T>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146172867 | ||||||
| chr1:146172977
|
T | C | 8 | a0001c0001t0008g0023a0001c0001t0008g0033a0001c0001t0009g0020others(5): Show | 8 | HG02132.hp1 HG03225.hp1 NA18952.hp1 others(5): Show |
intron_variant | MODIFIER | c.39-7967A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146172977 | ||||||
| chr1:146173024
|
T | C | 8 | a0001c0001t0008g0023a0001c0001t0008g0033a0001c0001t0009g0020others(5): Show | 8 | HG02132.hp1 HG03225.hp1 NA18952.hp1 others(5): Show |
intron_variant | MODIFIER | c.39-8014A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146173024 | ||||||
| chr1:146173035
|
T | G | 7 | a0001c0001t0008g0023a0001c0001t0008g0033a0001c0001t0009g0020others(4): Show | 7 | HG02132.hp1 HG03225.hp1 NA18952.hp1 others(4): Show |
intron_variant | MODIFIER | c.39-8025A>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146173035 | ||||||
| chr1:146173092
|
C | G | 2 | a0001c0001t0029g0028a0003c0002t0028g0029 | 2 | HG03130.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.39-8082G>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146173092 | ||||||
| chr1:146173427
|
T | C | 2 | a0001c0001t0029g0028a0003c0002t0028g0029 | 2 | HG03130.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.39-8417A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146173427 | ||||||
| chr1:146173697
|
G | A | 2 | a0001c0001t0029g0028a0003c0002t0028g0029 | 2 | HG03130.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.39-8687C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146173697 | ||||||
| chr1:146173928
|
AAAAACAA others(23): Show |
A | 1 | a0001c0001t0007g0016 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.39-8948_39-8919del others(30): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146173928 | ||||||
| chr1:146174151
|
T | C | 4 | a0001c0001t0029g0028a0001c0001t0032g0032a0001c0001t0033g0031others(1): Show | 4 | HG01515.hp2 HG03130.hp1 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.39-9141A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146174151 | ||||||
| chr1:146174354
|
G | T | 28 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(25): Show | 28 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(25): Show |
intron_variant | MODIFIER | c.39-9344C>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146174354 | ||||||
| chr1:146174387
|
GCT | G | 5 | a0001c0001t0009g0020a0001c0001t0013g0001a0001c0001t0014g0030others(2): Show | 5 | HG03225.hp1 NA18952.hp1 NA18990.hp2 others(2): Show |
intron_variant | MODIFIER | c.39-9379_39-9378del others(2): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146174387 | ||||||
| chr1:146174400
|
C | CT | 6 | a0001c0001t0007g0015a0001c0001t0007g0016a0001c0001t0017g0019others(3): Show | 6 | HG01515.hp2 HG03225.hp2 HG04199.hp2 others(3): Show |
intron_variant | MODIFIER | c.39-9391dupA | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146174400 | ||||||
| chr1:146174400
|
C | CTTT | 5 | a0001c0001t0009g0020a0001c0001t0013g0001a0001c0001t0014g0030others(2): Show | 5 | HG03225.hp1 NA18952.hp1 NA18990.hp2 others(2): Show |
intron_variant | MODIFIER | c.39-9393_39-9391dup others(3): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146174400 | ||||||
| chr1:146174400
|
CTTTTT | C | 27 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(24): Show | 27 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(24): Show |
intron_variant | MODIFIER | c.39-9395_39-9391del others(5): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146174400 | ||||||
| chr1:146174552
|
A | G | 8 | a0001c0001t0008g0023a0001c0001t0008g0033a0001c0001t0009g0020others(5): Show | 8 | HG02132.hp1 HG03225.hp1 NA18952.hp1 others(5): Show |
intron_variant | MODIFIER | c.39-9542T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146174552 | ||||||
| chr1:146174570
|
C | T | 1 | a0001c0001t0033g0031 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.39-9560G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146174570 | ||||||
| chr1:146174686
|
C | T | 2 | a0001c0001t0032g0032a0001c0001t0033g0031 | 2 | HG01515.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.39-9676G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146174686 | ||||||
| chr1:146174712
|
A | C | 1 | a0001c0001t0002g0007 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.39-9702T>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146174712 | ||||||
| chr1:146174733
|
A | G | 1 | a0001c0001t0016g0034 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.39-9723T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146174733 | ||||||
| chr1:146174737
|
A | G | 2 | a0001c0001t0032g0032a0001c0001t0033g0031 | 2 | HG01515.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.39-9727T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146174737 | ||||||
| chr1:146174972
|
T | G | 9 | a0001c0001t0002g0010a0001c0001t0008g0023a0001c0001t0008g0033others(6): Show | 9 | HG00639.hp1 HG02132.hp1 HG03225.hp1 others(6): Show |
intron_variant | MODIFIER | c.39-9962A>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146174972 | ||||||
| chr1:146175267
|
A | G | 11 | a0001c0001t0008g0023a0001c0001t0008g0033a0001c0001t0009g0020others(8): Show | 11 | HG01515.hp2 HG02132.hp1 HG03130.hp1 others(8): Show |
intron_variant | MODIFIER | c.39-10257T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146175267 | ||||||
| chr1:146175440
|
A | T | 2 | a0001c0001t0029g0028a0003c0002t0028g0029 | 2 | HG03130.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.39-10430T>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146175440 | ||||||
| chr1:146175510
|
T | C | 1 | a0001c0001t0033g0031 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.39-10500A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146175510 | ||||||
| chr1:146175616
|
C | T | 3 | a0001c0001t0029g0028a0001c0001t0033g0031a0003c0002t0028g0029 | 3 | HG03130.hp1 HG03453.hp1 HG04199.hp2 |
intron_variant | MODIFIER | c.39-10606G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146175616 | ||||||
| chr1:146175633
|
C | G | 1 | a0001c0001t0027g0054 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.39-10623G>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146175633 | ||||||
| chr1:146175987
|
C | T | 28 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(25): Show | 28 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(25): Show |
intron_variant | MODIFIER | c.39-10977G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146175987 | ||||||
| chr1:146176743
|
A | C | 11 | a0001c0001t0008g0023a0001c0001t0008g0033a0001c0001t0009g0020others(8): Show | 11 | HG02132.hp1 HG03225.hp1 HG03453.hp1 others(8): Show |
intron_variant | MODIFIER | c.39-11733T>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146176743 | ||||||
| chr1:146176745
|
G | C | 44 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(41): Show | 44 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(41): Show |
intron_variant | MODIFIER | c.39-11735C>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146176745 | ||||||
| chr1:146176824
|
A | G | 2 | a0001c0001t0008g0023a0001c0001t0008g0033 | 2 | HG02132.hp1 NA19007.hp1 |
intron_variant | MODIFIER | c.39-11814T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146176824 | ||||||
| chr1:146176851
|
G | A | 2 | a0001c0001t0013g0001a0001c0003t0009g0024 | 2 | NA18952.hp1 NA18990.hp2 |
intron_variant | MODIFIER | c.39-11841C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146176851 | ||||||
| chr1:146177322
|
T | TA | 34 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(31): Show | 34 | HG00408.hp1 HG00408.hp2 HG00597.hp1 others(31): Show |
intron_variant | MODIFIER | c.38+11977dupT | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146177322 | ||||||
| chr1:146177351
|
C | T | 2 | a0001c0001t0013g0001a0001c0003t0009g0024 | 2 | NA18952.hp1 NA18990.hp2 |
intron_variant | MODIFIER | c.38+11949G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146177351 | ||||||
| chr1:146177558
|
A | C | 29 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(26): Show | 29 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(26): Show |
intron_variant | MODIFIER | c.38+11742T>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146177558 | ||||||
| chr1:146178087
|
G | A | 1 | a0001c0001t0001g0055 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.38+11213C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146178087 | ||||||
| chr1:146178815
|
C | T | 4 | a0001c0001t0007g0015a0001c0001t0007g0016a0001c0001t0017g0019others(1): Show | 4 | HG03225.hp2 HG04204.hp1 NA19062.hp1 others(1): Show |
intron_variant | MODIFIER | c.38+10485G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146178815 | ||||||
| chr1:146179258
|
G | A | 29 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(26): Show | 29 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(26): Show |
intron_variant | MODIFIER | c.38+10042C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146179258 | ||||||
| chr1:146179976
|
G | C | 1 | a0001c0001t0005g0043 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.38+9324C>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146179976 | ||||||
| chr1:146180358
|
T | TA | 7 | a0001c0001t0008g0023a0001c0001t0008g0033a0001c0001t0009g0020others(4): Show | 7 | HG02132.hp1 HG03225.hp1 NA18952.hp1 others(4): Show |
intron_variant | MODIFIER | c.38+8941dupT | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146180358 | ||||||
| chr1:146180437
|
T | C | 10 | a0001c0001t0001g0055a0001c0001t0008g0023a0001c0001t0008g0033others(7): Show | 10 | HG02132.hp1 HG03130.hp1 HG03225.hp1 others(7): Show |
intron_variant | MODIFIER | c.38+8863A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146180437 | ||||||
| chr1:146180758
|
C | T | 4 | a0001c0001t0007g0015a0001c0001t0007g0016a0001c0001t0017g0019others(1): Show | 4 | HG03225.hp2 HG04204.hp1 NA19062.hp1 others(1): Show |
intron_variant | MODIFIER | c.38+8542G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146180758 | ||||||
| chr1:146181371
|
A | G | 2 | a0001c0001t0001g0059a0001c0001t0034g0025 | 2 | HG01099.hp1 HG01099.hp2 |
intron_variant | MODIFIER | c.38+7929T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146181371 | ||||||
| chr1:146181651
|
T | A | 4 | a0001c0001t0007g0015a0001c0001t0007g0016a0001c0001t0017g0019others(1): Show | 4 | HG03225.hp2 HG04204.hp1 NA19062.hp1 others(1): Show |
intron_variant | MODIFIER | c.38+7649A>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146181651 | ||||||
| chr1:146182573
|
G | A | 2 | a0001c0001t0016g0034a0003c0002t0028g0029 | 2 | HG03130.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.38+6727C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146182573 | ||||||
| chr1:146182582
|
T | C | 43 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(40): Show | 43 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(40): Show |
intron_variant | MODIFIER | c.38+6718A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146182582 | ||||||
| chr1:146182645
|
G | C | 1 | a0001c0001t0025g0035 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.38+6655C>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146182645 | ||||||
| chr1:146182861
|
C | A | 28 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(25): Show | 28 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(25): Show |
intron_variant | MODIFIER | c.38+6439G>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146182861 | ||||||
| chr1:146183129
|
C | T | 7 | a0001c0001t0008g0023a0001c0001t0008g0033a0001c0001t0009g0020others(4): Show | 7 | HG02132.hp1 HG03225.hp1 NA18952.hp1 others(4): Show |
intron_variant | MODIFIER | c.38+6171G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146183129 | ||||||
| chr1:146183248
|
G | T | 1 | a0001c0001t0001g0055 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.38+6052C>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146183248 | ||||||
| chr1:146183541
|
C | T | 7 | a0001c0001t0008g0023a0001c0001t0008g0033a0001c0001t0009g0020others(4): Show | 7 | HG02132.hp1 HG03225.hp1 NA18952.hp1 others(4): Show |
intron_variant | MODIFIER | c.38+5759G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146183541 | ||||||
| chr1:146183611
|
A | C | 7 | a0001c0001t0008g0023a0001c0001t0008g0033a0001c0001t0009g0020others(4): Show | 7 | HG02132.hp1 HG03225.hp1 NA18952.hp1 others(4): Show |
intron_variant | MODIFIER | c.38+5689T>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146183611 | ||||||
| chr1:146183751
|
C | T | 2 | a0001c0001t0018g0021a0001c0004t0006g0013 | 2 | HG00558.hp1 NA18953.hp2 |
intron_variant | MODIFIER | c.38+5549G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146183751 | ||||||
| chr1:146184152
|
C | T | 1 | a0001c0001t0002g0010 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.38+5148G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146184152 | ||||||
| chr1:146184275
|
CTT | C | 33 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(30): Show | 33 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(30): Show |
intron_variant | MODIFIER | c.38+5023_38+5024del others(2): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146184275 | ||||||
| chr1:146184419
|
G | GT | 11 | a0001c0001t0007g0015a0001c0001t0007g0016a0001c0001t0008g0023others(8): Show | 11 | HG02132.hp1 HG03225.hp1 HG03225.hp2 others(8): Show |
intron_variant | MODIFIER | c.38+4880dupA | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146184419 | ||||||
| chr1:146184813
|
G | C | 1 | a0001c0001t0002g0003 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.38+4487C>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146184813 | ||||||
| chr1:146185034
|
C | T | 3 | a0001c0001t0016g0034a0001c0001t0029g0028a0003c0002t0028g0029 | 3 | HG03130.hp1 HG03130.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.38+4266G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146185034 | ||||||
| chr1:146185447
|
T | G | 1 | a0001c0001t0001g0041 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.38+3853A>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146185447 | ||||||
| chr1:146185677
|
A | T | 1 | a0001c0001t0025g0035 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.38+3623T>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146185677 | ||||||
| chr1:146185876
|
T | C | 2 | a0001c0001t0007g0015a0001c0001t0007g0016 | 2 | HG03225.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.38+3424A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146185876 | ||||||
| chr1:146186085
|
T | C | 6 | a0001c0001t0008g0023a0001c0001t0008g0033a0001c0001t0009g0020others(3): Show | 6 | HG02132.hp1 NA18952.hp1 NA18990.hp2 others(3): Show |
intron_variant | MODIFIER | c.38+3215A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146186085 | ||||||
| chr1:146186356
|
C | CT | 30 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(27): Show | 30 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(27): Show |
intron_variant | MODIFIER | c.38+2943dupA | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146186356 | ||||||
| chr1:146186629
|
A | G | 1 | a0001c0001t0014g0030 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.38+2671T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146186629 | ||||||
| chr1:146186941
|
A | G | 6 | a0001c0001t0008g0023a0001c0001t0008g0033a0001c0001t0009g0020others(3): Show | 6 | HG02132.hp1 NA18952.hp1 NA18990.hp2 others(3): Show |
intron_variant | MODIFIER | c.38+2359T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146186941 | ||||||
| chr1:146187448
|
C | T | 2 | a0001c0001t0004g0011a0001c0001t0032g0032 | 2 | HG01515.hp1 HG01515.hp2 |
intron_variant | MODIFIER | c.38+1852G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146187448 | ||||||
| chr1:146187628
|
G | A | 1 | a0001c0001t0002g0007 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.38+1672C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146187628 | ||||||
| chr1:146187723
|
A | T | 30 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(27): Show | 30 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(27): Show |
intron_variant | MODIFIER | c.38+1577T>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146187723 | ||||||
| chr1:146187852
|
T | C | 2 | a0001c0001t0029g0028a0003c0002t0028g0029 | 2 | HG03130.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.38+1448A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146187852 | ||||||
| chr1:146188025
|
T | G | 2 | a0001c0001t0029g0028a0003c0002t0028g0029 | 2 | HG03130.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.38+1275A>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146188025 | ||||||
| chr1:146188227
|
T | G | 1 | a0001c0001t0014g0030 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.38+1073A>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146188227 | ||||||
| chr1:146188668
|
A | G | 43 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(40): Show | 43 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(40): Show |
intron_variant | MODIFIER | c.38+632T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146188668 | ||||||
| chr1:146188893
|
C | T | 2 | a0001c0001t0001g0046a0001c0001t0010g0017 | 2 | HG03927.hp1 HG03927.hp2 |
intron_variant | MODIFIER | c.38+407G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146188893 | ||||||
| chr1:146188978
|
C | T | 5 | a0001c0001t0008g0023a0001c0001t0008g0033a0001c0001t0009g0020others(2): Show | 5 | HG02132.hp1 NA18952.hp1 NA18990.hp2 others(2): Show |
intron_variant | MODIFIER | c.38+322G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 2/4 | chr1 | 146188978 | ||||||
| chr1:146190340
|
C | A | 6 | a0001c0001t0008g0023a0001c0001t0008g0033a0001c0001t0009g0020others(3): Show | 6 | HG02132.hp1 NA18952.hp1 NA18990.hp2 others(3): Show |
intron_variant | MODIFIER | c.-44-959G>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146190340 | ||||||
| chr1:146190553
|
C | T | 6 | a0001c0001t0008g0023a0001c0001t0008g0033a0001c0001t0009g0020others(3): Show | 6 | HG02132.hp1 NA18952.hp1 NA18990.hp2 others(3): Show |
intron_variant | MODIFIER | c.-44-1172G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146190553 | ||||||
| chr1:146190764
|
CA | C | 4 | a0001c0001t0007g0015a0001c0001t0007g0016a0001c0001t0017g0019others(1): Show | 4 | HG03225.hp2 HG04204.hp1 NA19062.hp1 others(1): Show |
intron_variant | MODIFIER | c.-44-1384delT | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146190764 | ||||||
| chr1:146190997
|
G | A | 1 | a0001c0001t0006g0004 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.-44-1616C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146190997 | ||||||
| chr1:146191058
|
C | T | 13 | a0001c0001t0007g0015a0001c0001t0007g0016a0001c0001t0008g0023others(10): Show | 13 | HG02132.hp1 HG03130.hp1 HG03225.hp1 others(10): Show |
intron_variant | MODIFIER | c.-44-1677G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146191058 | ||||||
| chr1:146191064
|
A | G | 1 | a0001c0001t0029g0028 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.-44-1683T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146191064 | ||||||
| chr1:146191153
|
A | G | 31 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(28): Show | 31 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(28): Show |
intron_variant | MODIFIER | c.-44-1772T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146191153 | ||||||
| chr1:146192031
|
T | C | 1 | a0001c0001t0007g0016 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.-44-2650A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146192031 | ||||||
| chr1:146192584
|
C | T | 4 | a0001c0001t0007g0015a0001c0001t0007g0016a0001c0001t0017g0019others(1): Show | 4 | HG03225.hp2 HG04204.hp1 NA19062.hp1 others(1): Show |
intron_variant | MODIFIER | c.-44-3203G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146192584 | ||||||
| chr1:146192798
|
CAA | C | 12 | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0010others(9): Show | 12 | HG00558.hp1 HG00639.hp1 HG01515.hp1 others(9): Show |
intron_variant | MODIFIER | c.-44-3419_-44-3418d others(4): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146192798 | ||||||
| chr1:146192798
|
CAAAAAA | C | 4 | a0001c0001t0008g0023a0001c0001t0008g0033a0001c0001t0009g0020others(1): Show | 4 | HG02132.hp1 NA19007.hp1 NA19066.hp1 others(1): Show |
intron_variant | MODIFIER | c.-44-3423_-44-3418d others(8): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146192798 | ||||||
| chr1:146192798
|
CAAAAAAA | C | 7 | a0001c0001t0003g0050a0001c0001t0007g0015a0001c0001t0010g0018others(4): Show | 7 | HG00597.hp1 HG00597.hp2 HG03654.hp1 others(4): Show |
intron_variant | MODIFIER | c.-44-3424_-44-3418d others(9): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146192798 | ||||||
| chr1:146192798
|
CAAAAAAA others(1): Show |
C | 26 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0041others(23): Show | 26 | HG00558.hp2 HG01099.hp1 HG01099.hp2 others(23): Show |
intron_variant | MODIFIER | c.-44-3425_-44-3418d others(10): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146192798 | ||||||
| chr1:146192896
|
C | G | 43 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(40): Show | 43 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(40): Show |
intron_variant | MODIFIER | c.-44-3515G>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146192896 | ||||||
| chr1:146193207
|
G | A | 41 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(38): Show | 41 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(38): Show |
intron_variant | MODIFIER | c.-44-3826C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146193207 | ||||||
| chr1:146193220
|
C | A | 42 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(39): Show | 42 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(39): Show |
intron_variant | MODIFIER | c.-44-3839G>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146193220 | ||||||
| chr1:146193631
|
C | T | 1 | a0001c0001t0016g0034 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.-44-4250G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146193631 | ||||||
| chr1:146193726
|
C | CAAAAAAA others(2): Show |
31 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(28): Show | 31 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(28): Show |
intron_variant | MODIFIER | c.-44-4354_-44-4346d others(11): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146193726 | ||||||
| chr1:146193726
|
C | CAAAAAAA others(3): Show |
3 | a0001c0001t0003g0027a0001c0001t0007g0016a0001c0001t0019g0058 | 3 | HG03225.hp2 NA19062.hp1 NA19062.hp2 |
intron_variant | MODIFIER | c.-44-4355_-44-4346d others(12): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146193726 | ||||||
| chr1:146193898
|
G | A | 1 | a0001c0001t0014g0030 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-44-4517C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146193898 | ||||||
| chr1:146194542
|
G | A | 1 | a0001c0001t0014g0030 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-44-5161C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146194542 | ||||||
| chr1:146194594
|
A | T | 1 | a0001c0001t0006g0004 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.-44-5213T>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146194594 | ||||||
| chr1:146194878
|
T | C | 44 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(41): Show | 44 | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(41): Show |
intron_variant | MODIFIER | c.-44-5497A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146194878 | ||||||
| chr1:146194923
|
C | T | 2 | a0001c0001t0018g0021a0001c0004t0006g0013 | 2 | HG00558.hp1 NA18953.hp2 |
intron_variant | MODIFIER | c.-44-5542G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146194923 | ||||||
| chr1:146194999
|
C | T | 1 | a0001c0003t0009g0024 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.-44-5618G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146194999 | ||||||
| chr1:146195049
|
C | A | 6 | a0001c0001t0008g0023a0001c0001t0008g0033a0001c0001t0009g0020others(3): Show | 6 | HG02132.hp1 NA18952.hp1 NA18990.hp2 others(3): Show |
intron_variant | MODIFIER | c.-44-5668G>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146195049 | ||||||
| chr1:146195049
|
C | CCA | 38 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(35): Show | 38 | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(35): Show |
intron_variant | MODIFIER | c.-44-5669_-44-5668i others(4): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146195049 | ||||||
| chr1:146195165
|
T | G | 36 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(33): Show | 36 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(33): Show |
intron_variant | MODIFIER | c.-44-5784A>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146195165 | ||||||
| chr1:146195175
|
C | G | 1 | a0001c0001t0014g0030 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-44-5794G>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146195175 | ||||||
| chr1:146195195
|
C | T | 42 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(39): Show | 42 | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(39): Show |
intron_variant | MODIFIER | c.-44-5814G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146195195 | ||||||
| chr1:146195634
|
T | C | 1 | a0001c0001t0003g0052 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.-44-6253A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146195634 | ||||||
| chr1:146195865
|
A | C | 2 | a0001c0001t0018g0021a0001c0004t0006g0013 | 2 | HG00558.hp1 NA18953.hp2 |
intron_variant | MODIFIER | c.-44-6484T>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146195865 | ||||||
| chr1:146196169
|
C | T | 45 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(42): Show | 45 | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(42): Show |
intron_variant | MODIFIER | c.-44-6788G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146196169 | ||||||
| chr1:146196623
|
C | A | 1 | a0001c0001t0008g0033 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.-44-7242G>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146196623 | ||||||
| chr1:146196785
|
A | G | 1 | a0001c0001t0016g0034 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.-44-7404T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146196785 | ||||||
| chr1:146196924
|
T | C | 34 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(31): Show | 34 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(31): Show |
intron_variant | MODIFIER | c.-44-7543A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146196924 | ||||||
| chr1:146197009
|
G | A | 5 | a0001c0001t0008g0023a0001c0001t0009g0020a0001c0001t0013g0001others(2): Show | 5 | HG02132.hp1 NA18952.hp1 NA18990.hp2 others(2): Show |
intron_variant | MODIFIER | c.-44-7628C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146197009 | ||||||
| chr1:146197063
|
A | C | 1 | a0001c0001t0001g0055 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.-44-7682T>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146197063 | ||||||
| chr1:146197113
|
T | G | 1 | a0001c0001t0008g0033 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.-44-7732A>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146197113 | ||||||
| chr1:146197389
|
C | T | 42 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(39): Show | 42 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(39): Show |
intron_variant | MODIFIER | c.-44-8008G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146197389 | ||||||
| chr1:146197638
|
A | T | 1 | a0001c0001t0008g0033 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.-44-8257T>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146197638 | ||||||
| chr1:146198533
|
C | T | 1 | a0001c0001t0014g0030 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-44-9152G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146198533 | ||||||
| chr1:146198791
|
C | CT | 6 | a0001c0001t0001g0046a0001c0001t0002g0014a0001c0001t0008g0033others(3): Show | 6 | HG03130.hp1 HG03453.hp1 HG03927.hp1 others(3): Show |
intron_variant | MODIFIER | c.-44-9411dupA | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146198791 | ||||||
| chr1:146198791
|
CT | C | 5 | a0001c0001t0008g0023a0001c0001t0009g0020a0001c0001t0013g0001others(2): Show | 5 | HG02132.hp1 NA18952.hp1 NA18990.hp2 others(2): Show |
intron_variant | MODIFIER | c.-44-9411delA | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146198791 | ||||||
| chr1:146198822
|
C | T | 2 | a0001c0001t0029g0028a0003c0002t0028g0029 | 2 | HG03130.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.-44-9441G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146198822 | ||||||
| chr1:146198917
|
A | G | 43 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(40): Show | 43 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(40): Show |
intron_variant | MODIFIER | c.-44-9536T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146198917 | ||||||
| chr1:146198940
|
C | T | 5 | a0001c0001t0008g0023a0001c0001t0009g0020a0001c0001t0013g0001others(2): Show | 5 | HG02132.hp1 NA18952.hp1 NA18990.hp2 others(2): Show |
intron_variant | MODIFIER | c.-44-9559G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146198940 | ||||||
| chr1:146198941
|
G | A | 2 | a0001c0001t0029g0028a0003c0002t0028g0029 | 2 | HG03130.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.-44-9560C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146198941 | ||||||
| chr1:146198950
|
T | A | 41 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(38): Show | 41 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(38): Show |
intron_variant | MODIFIER | c.-44-9569A>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146198950 | ||||||
| chr1:146199029
|
G | A | 5 | a0001c0001t0008g0023a0001c0001t0009g0020a0001c0001t0013g0001others(2): Show | 5 | HG02132.hp1 NA18952.hp1 NA18990.hp2 others(2): Show |
intron_variant | MODIFIER | c.-44-9648C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146199029 | ||||||
| chr1:146199098
|
G | A | 29 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(26): Show | 29 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(26): Show |
intron_variant | MODIFIER | c.-44-9717C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146199098 | ||||||
| chr1:146199823
|
C | CT | 41 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(38): Show | 41 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(38): Show |
intron_variant | MODIFIER | c.-44-10443dupA | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146199823 | ||||||
| chr1:146199823
|
C | T | 1 | a0001c0001t0029g0028 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.-44-10442G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146199823 | ||||||
| chr1:146200175
|
T | TTTGGGAG others(10): Show |
1 | a0001c0001t0009g0020 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.-44-10811_-44-1079 others(21): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146200175 | ||||||
| chr1:146200194
|
C | G | 1 | a0001c0001t0014g0030 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-44-10813G>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146200194 | ||||||
| chr1:146200220
|
C | T | 1 | a0001c0001t0003g0036 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.-44-10839G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146200220 | ||||||
| chr1:146200322
|
C | T | 1 | a0001c0001t0014g0030 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-44-10941G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146200322 | ||||||
| chr1:146200401
|
T | C | 38 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(35): Show | 38 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(35): Show |
intron_variant | MODIFIER | c.-44-11020A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146200401 | ||||||
| chr1:146200436
|
A | T | 2 | a0001c0001t0003g0050a0001c0001t0031g0049 | 2 | HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.-44-11055T>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146200436 | ||||||
| chr1:146200438
|
A | AAAAAAAA others(38): Show |
1 | a0003c0002t0028g0029 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.-44-11058_-44-1105 others(49): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146200438 | ||||||
| chr1:146200438
|
A | AAAAAAAA others(41): Show |
1 | a0001c0001t0029g0028 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.-44-11058_-44-1105 others(52): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146200438 | ||||||
| chr1:146200438
|
A | AAAAAAAA others(11): Show |
1 | a0001c0001t0008g0023 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.-44-11058_-44-1105 others(22): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146200438 | ||||||
| chr1:146200438
|
A | AAAAAATA others(7): Show |
1 | a0001c0001t0013g0001 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.-44-11058_-44-1105 others(18): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146200438 | ||||||
| chr1:146200438
|
A | AAAAATAT others(6): Show |
1 | a0001c0001t0030g0022 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.-44-11058_-44-1105 others(17): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146200438 | ||||||
| chr1:146200438
|
A | AAAATAT | 4 | a0001c0001t0001g0046a0001c0001t0010g0017a0001c0001t0010g0018others(1): Show | 4 | HG00597.hp1 HG00597.hp2 HG03927.hp1 others(1): Show |
intron_variant | MODIFIER | c.-44-11058_-44-1105 others(10): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146200438 | ||||||
| chr1:146200438
|
A | AAAATATA others(25): Show |
1 | a0001c0001t0008g0033 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.-44-11058_-44-1105 others(36): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146200438 | ||||||
| chr1:146200438
|
A | AATATAT | 14 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(11): Show | 14 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(11): Show |
intron_variant | MODIFIER | c.-44-11063_-44-1105 others(10): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146200438 | ||||||
| chr1:146200438
|
A | AATATATA others(5): Show |
1 | a0001c0001t0014g0030 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-44-11069_-44-1105 others(16): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146200438 | ||||||
| chr1:146200438
|
A | T | 5 | a0001c0001t0001g0048a0001c0001t0003g0050a0001c0001t0003g0052others(2): Show | 5 | HG03453.hp2 HG03654.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.-44-11057T>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146200438 | ||||||
| chr1:146200440
|
T | A | 17 | a0001c0001t0002g0003a0001c0001t0002g0006a0001c0001t0002g0007others(14): Show | 17 | HG00558.hp1 HG01515.hp1 HG01515.hp2 others(14): Show |
intron_variant | MODIFIER | c.-44-11059A>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146200440 | ||||||
| chr1:146200442
|
T | A | 9 | a0001c0001t0002g0003a0001c0001t0002g0014a0001c0001t0011g0008others(6): Show | 9 | HG00558.hp1 NA18952.hp1 NA18952.hp2 others(6): Show |
intron_variant | MODIFIER | c.-44-11061A>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146200442 | ||||||
| chr1:146200664
|
G | C | 38 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(35): Show | 38 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(35): Show |
intron_variant | MODIFIER | c.-44-11283C>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146200664 | ||||||
| chr1:146200718
|
T | C | 38 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(35): Show | 38 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(35): Show |
intron_variant | MODIFIER | c.-44-11337A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146200718 | ||||||
| chr1:146200784
|
A | C | 1 | a0001c0001t0001g0048 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.-44-11403T>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146200784 | ||||||
| chr1:146201765
|
G | A | 37 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(34): Show | 37 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(34): Show |
intron_variant | MODIFIER | c.-44-12384C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146201765 | ||||||
| chr1:146202346
|
C | A | 1 | a0001c0001t0001g0038 | 1 | NA18974.hp2 | intron_variant | MODIFIER | c.-44-12965G>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146202346 | ||||||
| chr1:146202365
|
G | C | 8 | a0001c0001t0001g0038a0001c0001t0001g0041a0001c0001t0001g0055others(5): Show | 8 | HG00558.hp2 HG00597.hp1 HG00597.hp2 others(5): Show |
intron_variant | MODIFIER | c.-44-12984C>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146202365 | ||||||
| chr1:146202784
|
T | C | 2 | a0001c0001t0029g0028a0003c0002t0028g0029 | 2 | HG03130.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.-44-13403A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146202784 | ||||||
| chr1:146203133
|
A | T | 1 | a0001c0001t0033g0031 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.-44-13752T>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146203133 | ||||||
| chr1:146203134
|
C | A | 1 | a0001c0001t0033g0031 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.-44-13753G>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146203134 | ||||||
| chr1:146203158
|
T | C | 36 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(33): Show | 36 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(33): Show |
intron_variant | MODIFIER | c.-44-13777A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146203158 | ||||||
| chr1:146203221
|
G | GA | 8 | a0001c0001t0004g0012a0001c0001t0007g0015a0001c0001t0007g0016others(5): Show | 8 | HG00558.hp1 HG03225.hp1 HG03225.hp2 others(5): Show |
intron_variant | MODIFIER | c.-44-13841dupT | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146203221 | ||||||
| chr1:146203332
|
A | C | 36 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(33): Show | 36 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(33): Show |
intron_variant | MODIFIER | c.-44-13951T>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146203332 | ||||||
| chr1:146203415
|
C | T | 35 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(32): Show | 35 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(32): Show |
intron_variant | MODIFIER | c.-44-14034G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146203415 | ||||||
| chr1:146203445
|
C | T | 1 | a0003c0002t0028g0029 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.-44-14064G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146203445 | ||||||
| chr1:146203475
|
A | C | 1 | a0001c0001t0007g0016 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.-44-14094T>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146203475 | ||||||
| chr1:146203487
|
T | A | 1 | a0001c0001t0016g0034 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.-44-14106A>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146203487 | ||||||
| chr1:146203588
|
T | C | 2 | a0001c0001t0001g0046a0001c0001t0010g0017 | 2 | HG03927.hp1 HG03927.hp2 |
intron_variant | MODIFIER | c.-44-14207A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146203588 | ||||||
| chr1:146203776
|
A | T | 1 | a0001c0001t0035g0060 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.-44-14395T>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146203776 | ||||||
| chr1:146203975
|
C | CACA | 2 | a0001c0001t0008g0023a0001c0001t0030g0022 | 2 | HG02132.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.-44-14597_-44-1459 others(7): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146203975 | ||||||
| chr1:146204030
|
A | G | 2 | a0001c0001t0008g0023a0001c0001t0030g0022 | 2 | HG02132.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.-44-14649T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146204030 | ||||||
| chr1:146204116
|
A | G | 32 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(29): Show | 32 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(29): Show |
intron_variant | MODIFIER | c.-44-14735T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146204116 | ||||||
| chr1:146204453
|
TTGAGTAG others(19): Show |
T | 1 | a0001c0001t0033g0031 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.-44-15098_-44-1507 others(30): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146204453 | ||||||
| chr1:146204822
|
A | C | 1 | a0001c0001t0014g0030 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-44-15441T>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146204822 | ||||||
| chr1:146204828
|
T | TAA | 4 | a0001c0001t0017g0019a0001c0001t0019g0058a0001c0001t0027g0054others(1): Show | 4 | HG04204.hp1 NA18953.hp1 NA19057.hp2 others(1): Show |
intron_variant | MODIFIER | c.-44-15449_-44-1544 others(6): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146204828 | ||||||
| chr1:146204828
|
T | TAAA | 27 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(24): Show | 27 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(24): Show |
intron_variant | MODIFIER | c.-44-15450_-44-1544 others(7): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146204828 | ||||||
| chr1:146204938
|
T | C | 1 | a0001c0001t0016g0034 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.-44-15557A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146204938 | ||||||
| chr1:146205063
|
C | T | 1 | a0001c0001t0008g0033 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.-44-15682G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146205063 | ||||||
| chr1:146205130
|
T | C | 37 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(34): Show | 37 | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(34): Show |
intron_variant | MODIFIER | c.-44-15749A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146205130 | ||||||
| chr1:146205226
|
G | A | 33 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(30): Show | 33 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(30): Show |
intron_variant | MODIFIER | c.-44-15845C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146205226 | ||||||
| chr1:146205360
|
G | T | 1 | a0001c0001t0014g0030 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-44-15979C>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146205360 | ||||||
| chr1:146205443
|
G | T | 1 | a0001c0001t0029g0028 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.-44-16062C>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146205443 | ||||||
| chr1:146205659
|
CAT | C | 3 | a0001c0001t0007g0016a0001c0001t0017g0019a0001c0001t0019g0058 | 3 | HG03225.hp2 HG04204.hp1 NA19062.hp1 |
intron_variant | MODIFIER | c.-44-16280_-44-1627 others(6): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146205659 | ||||||
| chr1:146205761
|
G | A | 1 | a0001c0001t0001g0037 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.-44-16380C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146205761 | ||||||
| chr1:146205973
|
A | G | 2 | a0001c0001t0029g0028a0003c0002t0028g0029 | 2 | HG03130.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.-44-16592T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146205973 | ||||||
| chr1:146206043
|
T | C | 2 | a0001c0001t0029g0028a0003c0002t0028g0029 | 2 | HG03130.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.-44-16662A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146206043 | ||||||
| chr1:146206698
|
T | C | 2 | a0001c0001t0002g0010a0001c0001t0004g0012 | 2 | HG00639.hp1 HG03688.hp1 |
intron_variant | MODIFIER | c.-44-17317A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146206698 | ||||||
| chr1:146206899
|
T | C | 1 | a0001c0001t0005g0044 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.-44-17518A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146206899 | ||||||
| chr1:146207023
|
G | A | 1 | a0001c0001t0014g0030 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-44-17642C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146207023 | ||||||
| chr1:146207031
|
G | C | 3 | a0001c0001t0014g0030a0001c0001t0018g0021a0001c0004t0006g0013 | 3 | HG00558.hp1 HG03225.hp1 NA18953.hp2 |
intron_variant | MODIFIER | c.-44-17650C>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146207031 | ||||||
| chr1:146207132
|
G | GT | 25 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(22): Show | 25 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(22): Show |
intron_variant | MODIFIER | c.-44-17752dupA | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146207132 | ||||||
| chr1:146207132
|
G | GTT | 6 | a0001c0001t0001g0046a0001c0001t0003g0027a0001c0001t0010g0017others(3): Show | 6 | HG03927.hp1 HG03927.hp2 HG04199.hp2 others(3): Show |
intron_variant | MODIFIER | c.-44-17753_-44-1775 others(6): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146207132 | ||||||
| chr1:146207259
|
G | A | 1 | a0001c0001t0002g0010 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.-44-17878C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146207259 | ||||||
| chr1:146207288
|
T | C | 1 | a0001c0001t0033g0031 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.-44-17907A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146207288 | ||||||
| chr1:146207347
|
A | C | 2 | a0001c0001t0029g0028a0003c0002t0028g0029 | 2 | HG03130.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.-44-17966T>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146207347 | ||||||
| chr1:146207355
|
G | C | 29 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(26): Show | 29 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(26): Show |
intron_variant | MODIFIER | c.-44-17974C>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146207355 | ||||||
| chr1:146207368
|
C | T | 2 | a0001c0001t0017g0019a0001c0001t0019g0058 | 2 | HG04204.hp1 NA19062.hp1 |
intron_variant | MODIFIER | c.-44-17987G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146207368 | ||||||
| chr1:146207462
|
A | G | 1 | a0001c0001t0008g0033 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.-44-18081T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146207462 | ||||||
| chr1:146207506
|
C | T | 2 | a0001c0001t0029g0028a0003c0002t0028g0029 | 2 | HG03130.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.-44-18125G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146207506 | ||||||
| chr1:146207551
|
C | T | 2 | a0001c0001t0003g0050a0001c0001t0031g0049 | 2 | HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.-44-18170G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146207551 | ||||||
| chr1:146207725
|
C | T | 2 | a0001c0001t0014g0030a0001c0001t0033g0031 | 2 | HG03225.hp1 HG04199.hp2 |
intron_variant | MODIFIER | c.-44-18344G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146207725 | ||||||
| chr1:146207811
|
C | CTT | 2 | a0001c0001t0004g0011a0001c0001t0032g0032 | 2 | HG01515.hp1 HG01515.hp2 |
intron_variant | MODIFIER | c.-44-18432_-44-1843 others(6): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146207811 | ||||||
| chr1:146207811
|
C | CTTTTTTT others(3): Show |
2 | a0001c0001t0022g0026a0001c0001t0023g0053 | 2 | HG00408.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.-44-18431_-44-1843 others(14): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146207811 | ||||||
| chr1:146207811
|
C | CTTTTTTT others(4): Show |
13 | a0001c0001t0001g0037a0001c0001t0001g0046a0001c0001t0001g0059others(10): Show | 13 | HG00558.hp2 HG01099.hp1 HG01099.hp2 others(10): Show |
intron_variant | MODIFIER | c.-44-18431_-44-1843 others(15): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146207811 | ||||||
| chr1:146207811
|
C | CTTTTTTT others(5): Show |
7 | a0001c0001t0001g0038a0001c0001t0001g0055a0001c0001t0005g0042others(4): Show | 7 | HG02132.hp1 HG02132.hp2 HG02523.hp2 others(4): Show |
intron_variant | MODIFIER | c.-44-18431_-44-1843 others(16): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146207811 | ||||||
| chr1:146207811
|
C | CTTTTTTT others(6): Show |
3 | a0001c0001t0001g0048a0001c0001t0017g0019a0001c0001t0035g0060 | 3 | HG03453.hp2 HG04204.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.-44-18431_-44-1843 others(17): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146207811 | ||||||
| chr1:146207811
|
C | CTTTTTTT others(7): Show |
3 | a0001c0001t0001g0040a0001c0001t0003g0047a0001c0001t0015g0039 | 3 | HG00408.hp2 HG00639.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.-44-18431_-44-1843 others(18): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146207811 | ||||||
| chr1:146207811
|
C | CTTTTTTT others(11): Show |
2 | a0001c0001t0001g0041a0001c0001t0007g0016 | 2 | HG02155.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.-44-18431_-44-1843 others(22): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146207811 | ||||||
| chr1:146207811
|
C | CTTTTTTT others(12): Show |
1 | a0001c0001t0007g0015 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-44-18431_-44-1843 others(23): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146207811 | ||||||
| chr1:146207811
|
CTTTCTTT others(5): Show |
C | 2 | a0001c0001t0010g0018a0001c0001t0026g0045 | 2 | HG00597.hp1 HG00597.hp2 |
intron_variant | MODIFIER | c.-44-18442_-44-1843 others(16): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146207811 | ||||||
| chr1:146207815
|
C | T | 35 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(32): Show | 35 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(32): Show |
intron_variant | MODIFIER | c.-44-18434G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146207815 | ||||||
| chr1:146207839
|
G | T | 2 | a0001c0001t0001g0046a0001c0001t0010g0017 | 2 | HG03927.hp1 HG03927.hp2 |
intron_variant | MODIFIER | c.-44-18458C>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146207839 | ||||||
| chr1:146208041
|
C | T | 2 | a0001c0001t0014g0030a0001c0001t0033g0031 | 2 | HG03225.hp1 HG04199.hp2 |
intron_variant | MODIFIER | c.-44-18660G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146208041 | ||||||
| chr1:146208156
|
C | G | 60 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(57): Show | 60 | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(57): Show |
intron_variant | MODIFIER | c.-44-18775G>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146208156 | ||||||
| chr1:146208182
|
A | T | 1 | a0001c0001t0014g0030 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-44-18801T>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146208182 | ||||||
| chr1:146208184
|
C | A | 1 | a0001c0001t0014g0030 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-44-18803G>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146208184 | ||||||
| chr1:146208315
|
C | T | 2 | a0001c0001t0029g0028a0003c0002t0028g0029 | 2 | HG03130.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.-44-18934G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146208315 | ||||||
| chr1:146208357
|
A | G | 37 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(34): Show | 37 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(34): Show |
intron_variant | MODIFIER | c.-44-18976T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146208357 | ||||||
| chr1:146208722
|
C | T | 34 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(31): Show | 34 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(31): Show |
intron_variant | MODIFIER | c.-44-19341G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146208722 | ||||||
| chr1:146209142
|
A | G | 10 | a0001c0001t0004g0011a0001c0001t0004g0012a0001c0001t0008g0033others(7): Show | 10 | HG00558.hp1 HG01515.hp1 HG01515.hp2 others(7): Show |
intron_variant | MODIFIER | c.-45+19567T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146209142 | ||||||
| chr1:146209630
|
G | C | 8 | a0001c0001t0008g0033a0001c0001t0014g0030a0001c0001t0018g0021others(5): Show | 8 | HG00558.hp1 HG01515.hp2 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.-45+19079C>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146209630 | ||||||
| chr1:146209702
|
T | A | 9 | a0001c0001t0004g0011a0001c0001t0008g0033a0001c0001t0014g0030others(6): Show | 9 | HG00558.hp1 HG01515.hp1 HG01515.hp2 others(6): Show |
intron_variant | MODIFIER | c.-45+19007A>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146209702 | ||||||
| chr1:146209761
|
T | A | 9 | a0001c0001t0004g0011a0001c0001t0008g0033a0001c0001t0014g0030others(6): Show | 9 | HG00558.hp1 HG01515.hp1 HG01515.hp2 others(6): Show |
intron_variant | MODIFIER | c.-45+18948A>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146209761 | ||||||
| chr1:146209890
|
C | A | 6 | a0001c0001t0008g0033a0001c0001t0014g0030a0001c0001t0018g0021others(3): Show | 6 | HG00558.hp1 HG01515.hp2 HG03225.hp1 others(3): Show |
intron_variant | MODIFIER | c.-45+18819G>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146209890 | ||||||
| chr1:146209947
|
G | T | 1 | a0001c0001t0014g0030 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-45+18762C>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146209947 | ||||||
| chr1:146209948
|
C | G | 1 | a0001c0001t0014g0030 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-45+18761G>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146209948 | ||||||
| chr1:146209950
|
A | C | 1 | a0001c0001t0014g0030 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-45+18759T>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146209950 | ||||||
| chr1:146210099
|
A | C | 1 | a0001c0001t0014g0030 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-45+18610T>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146210099 | ||||||
| chr1:146210294
|
C | T | 4 | a0001c0001t0008g0033a0001c0001t0014g0030a0001c0001t0032g0032others(1): Show | 4 | HG01515.hp2 HG03225.hp1 HG04199.hp2 others(1): Show |
intron_variant | MODIFIER | c.-45+18415G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146210294 | ||||||
| chr1:146210602
|
A | AAC | 3 | a0001c0001t0002g0003a0001c0001t0002g0014a0001c0003t0009g0024 | 3 | NA18952.hp1 NA18952.hp2 NA19057.hp1 |
intron_variant | MODIFIER | c.-45+18105_-45+1810 others(6): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146210602 | ||||||
| chr1:146210602
|
AAC | A | 7 | a0001c0001t0008g0033a0001c0001t0014g0030a0001c0001t0018g0021others(4): Show | 7 | HG00558.hp1 HG01515.hp2 HG03130.hp1 others(4): Show |
intron_variant | MODIFIER | c.-45+18105_-45+1810 others(6): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146210602 | ||||||
| chr1:146210763
|
T | G | 11 | a0001c0001t0002g0002a0001c0001t0007g0015a0001c0001t0007g0016others(8): Show | 11 | HG00558.hp1 HG01515.hp2 HG02523.hp1 others(8): Show |
intron_variant | MODIFIER | c.-45+17946A>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146210763 | ||||||
| chr1:146210913
|
T | C | 38 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(35): Show | 38 | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(35): Show |
intron_variant | MODIFIER | c.-45+17796A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146210913 | ||||||
| chr1:146210917
|
A | T | 1 | a0001c0001t0014g0030 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-45+17792T>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146210917 | ||||||
| chr1:146210936
|
G | A | 2 | a0001c0001t0014g0030a0001c0001t0033g0031 | 2 | HG03225.hp1 HG04199.hp2 |
intron_variant | MODIFIER | c.-45+17773C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146210936 | ||||||
| chr1:146211017
|
A | T | 1 | a0001c0001t0014g0030 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-45+17692T>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146211017 | ||||||
| chr1:146211123
|
T | A | 1 | a0001c0001t0014g0030 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-45+17586A>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146211123 | ||||||
| chr1:146211141
|
T | C | 2 | a0001c0001t0029g0028a0003c0002t0028g0029 | 2 | HG03130.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.-45+17568A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146211141 | ||||||
| chr1:146211413
|
T | C | 2 | a0001c0001t0029g0028a0003c0002t0028g0029 | 2 | HG03130.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.-45+17296A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146211413 | ||||||
| chr1:146211689
|
T | C | 3 | a0001c0001t0004g0012a0001c0001t0014g0030a0001c0001t0033g0031 | 3 | HG03225.hp1 HG03688.hp1 HG04199.hp2 |
intron_variant | MODIFIER | c.-45+17020A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146211689 | ||||||
| chr1:146211854
|
T | G | 2 | a0001c0001t0029g0028a0003c0002t0028g0029 | 2 | HG03130.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.-45+16855A>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146211854 | ||||||
| chr1:146212146
|
T | A | 1 | a0001c0001t0014g0030 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-45+16563A>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146212146 | ||||||
| chr1:146212415
|
A | C | 1 | a0001c0001t0014g0030 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-45+16294T>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146212415 | ||||||
| chr1:146212688
|
C | T | 29 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(26): Show | 29 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(26): Show |
intron_variant | MODIFIER | c.-45+16021G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146212688 | ||||||
| chr1:146212949
|
A | G | 2 | a0001c0001t0029g0028a0003c0002t0028g0029 | 2 | HG03130.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.-45+15760T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146212949 | ||||||
| chr1:146213122
|
A | G | 9 | a0001c0001t0001g0038a0001c0001t0001g0041a0001c0001t0005g0042others(6): Show | 9 | HG00558.hp2 HG00597.hp1 HG00597.hp2 others(6): Show |
intron_variant | MODIFIER | c.-45+15587T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146213122 | ||||||
| chr1:146213127
|
A | T | 1 | a0001c0001t0014g0030 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-45+15582T>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146213127 | ||||||
| chr1:146213482
|
C | A | 1 | a0001c0001t0014g0030 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-45+15227G>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146213482 | ||||||
| chr1:146213534
|
A | T | 1 | a0001c0001t0014g0030 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-45+15175T>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146213534 | ||||||
| chr1:146213714
|
C | G | 1 | a0001c0001t0001g0040 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.-45+14995G>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146213714 | ||||||
| chr1:146213722
|
C | A | 33 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(30): Show | 33 | HG00408.hp2 HG00558.hp2 HG00597.hp1 others(30): Show |
intron_variant | MODIFIER | c.-45+14987G>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146213722 | ||||||
| chr1:146214761
|
G | A | 1 | a0001c0001t0035g0060 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.-45+13948C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146214761 | ||||||
| chr1:146216396
|
T | C | 2 | a0001c0001t0029g0028a0003c0002t0028g0029 | 2 | HG03130.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.-45+12313A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146216396 | ||||||
| chr1:146216532
|
C | T | 2 | a0001c0001t0029g0028a0003c0002t0028g0029 | 2 | HG03130.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.-45+12177G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146216532 | ||||||
| chr1:146216930
|
T | C | 2 | a0001c0001t0029g0028a0003c0002t0028g0029 | 2 | HG03130.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.-45+11779A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146216930 | ||||||
| chr1:146217350
|
C | G | 4 | a0001c0001t0007g0015a0001c0001t0007g0016a0001c0001t0017g0019others(1): Show | 4 | HG03225.hp2 HG04204.hp1 NA19062.hp1 others(1): Show |
intron_variant | MODIFIER | c.-45+11359G>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146217350 | ||||||
| chr1:146217454
|
T | C | 2 | a0001c0001t0029g0028a0003c0002t0028g0029 | 2 | HG03130.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.-45+11255A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146217454 | ||||||
| chr1:146217668
|
T | C | 1 | a0001c0001t0001g0059 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.-45+11041A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146217668 | ||||||
| chr1:146218978
|
A | T | 1 | a0001c0003t0009g0024 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.-45+9731T>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146218978 | ||||||
| chr1:146218993
|
G | A | 8 | a0001c0001t0008g0023a0001c0001t0009g0020a0001c0001t0014g0030others(5): Show | 8 | HG00558.hp1 HG01099.hp1 HG02132.hp1 others(5): Show |
intron_variant | MODIFIER | c.-45+9716C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146218993 | ||||||
| chr1:146219034
|
A | T | 27 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(24): Show | 27 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(24): Show |
intron_variant | MODIFIER | c.-45+9675T>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146219034 | ||||||
| chr1:146219186
|
C | G | 1 | a0001c0001t0016g0034 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.-45+9523G>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146219186 | ||||||
| chr1:146219590
|
A | AC | 10 | a0001c0001t0009g0020a0001c0001t0010g0018a0001c0001t0014g0030others(7): Show | 10 | HG00558.hp1 HG00597.hp1 HG01099.hp1 others(7): Show |
intron_variant | MODIFIER | c.-45+9118dupG | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146219590 | ||||||
| chr1:146219592
|
A | C | 1 | a0001c0001t0008g0023 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.-45+9117T>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146219592 | ||||||
| chr1:146219603
|
G | A | 11 | a0001c0001t0008g0023a0001c0001t0009g0020a0001c0001t0010g0018others(8): Show | 11 | HG00558.hp1 HG00597.hp1 HG01099.hp1 others(8): Show |
intron_variant | MODIFIER | c.-45+9106C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146219603 | ||||||
| chr1:146219661
|
TGAGA | T | 9 | a0001c0001t0008g0023a0001c0001t0009g0020a0001c0001t0010g0018others(6): Show | 9 | HG00558.hp1 HG00597.hp1 HG01099.hp1 others(6): Show |
intron_variant | MODIFIER | c.-45+9044_-45+9047d others(6): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146219661 | ||||||
| chr1:146219795
|
T | TA | 25 | a0001c0001t0001g0037a0001c0001t0001g0040a0001c0001t0001g0041others(22): Show | 25 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(22): Show |
intron_variant | MODIFIER | c.-45+8913dupT | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146219795 | ||||||
| chr1:146219800
|
A | ATATATAT others(6): Show |
2 | a0001c0001t0014g0030a0001c0001t0030g0022 | 2 | HG03225.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.-45+8908_-45+8909i others(15): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146219800 | ||||||
| chr1:146219800
|
A | ATATATAT others(8): Show |
1 | a0001c0001t0009g0020 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.-45+8908_-45+8909i others(17): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146219800 | ||||||
| chr1:146219800
|
A | ATATATAT others(10): Show |
2 | a0001c0001t0018g0021a0001c0001t0034g0025 | 2 | HG00558.hp1 HG01099.hp1 |
intron_variant | MODIFIER | c.-45+8908_-45+8909i others(19): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146219800 | ||||||
| chr1:146219800
|
A | ATATATAT others(12): Show |
1 | a0001c0003t0009g0024 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.-45+8908_-45+8909i others(21): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146219800 | ||||||
| chr1:146219800
|
A | ATATATAT others(14): Show |
1 | a0001c0001t0010g0018 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.-45+8908_-45+8909i others(23): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146219800 | ||||||
| chr1:146219800
|
A | ATATATAT others(18): Show |
1 | a0001c0001t0008g0023 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.-45+8908_-45+8909i others(27): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146219800 | ||||||
| chr1:146219802
|
A | T | 9 | a0001c0001t0008g0023a0001c0001t0009g0020a0001c0001t0010g0018others(6): Show | 9 | HG00558.hp1 HG00597.hp1 HG01099.hp1 others(6): Show |
intron_variant | MODIFIER | c.-45+8907T>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146219802 | ||||||
| chr1:146219804
|
A | T | 10 | a0001c0001t0008g0023a0001c0001t0009g0020a0001c0001t0010g0018others(7): Show | 10 | HG00558.hp1 HG00597.hp1 HG01099.hp1 others(7): Show |
intron_variant | MODIFIER | c.-45+8905T>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146219804 | ||||||
| chr1:146219806
|
A | T | 17 | a0001c0001t0002g0002a0001c0001t0007g0015a0001c0001t0007g0016others(14): Show | 17 | HG00558.hp1 HG00597.hp1 HG01099.hp1 others(14): Show |
intron_variant | MODIFIER | c.-45+8903T>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146219806 | ||||||
| chr1:146220111
|
T | G | 2 | a0001c0001t0029g0028a0003c0002t0028g0029 | 2 | HG03130.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.-45+8598A>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146220111 | ||||||
| chr1:146220122
|
T | C | 1 | a0001c0001t0034g0025 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.-45+8587A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146220122 | ||||||
| chr1:146220182
|
T | C | 8 | a0001c0001t0008g0023a0001c0001t0009g0020a0001c0001t0014g0030others(5): Show | 8 | HG00558.hp1 HG01099.hp1 HG02132.hp1 others(5): Show |
intron_variant | MODIFIER | c.-45+8527A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146220182 | ||||||
| chr1:146220364
|
A | C | 1 | a0001c0001t0013g0001 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.-45+8345T>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146220364 | ||||||
| chr1:146220366
|
A | C | 1 | a0001c0001t0013g0001 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.-45+8343T>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146220366 | ||||||
| chr1:146220368
|
T | C | 1 | a0001c0001t0013g0001 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.-45+8341A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146220368 | ||||||
| chr1:146220369
|
A | G | 1 | a0001c0001t0013g0001 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.-45+8340T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146220369 | ||||||
| chr1:146220370
|
A | C | 1 | a0001c0001t0013g0001 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.-45+8339T>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146220370 | ||||||
| chr1:146220371
|
T | G | 1 | a0001c0001t0013g0001 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.-45+8338A>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146220371 | ||||||
| chr1:146220374
|
A | C | 1 | a0001c0001t0013g0001 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.-45+8335T>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146220374 | ||||||
| chr1:146220375
|
A | T | 1 | a0001c0001t0013g0001 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.-45+8334T>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146220375 | ||||||
| chr1:146220379
|
C | T | 1 | a0001c0001t0013g0001 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.-45+8330G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146220379 | ||||||
| chr1:146220412
|
C | T | 2 | a0001c0001t0020g0057a0001c0001t0021g0056 | 2 | NA19066.hp2 NA19091.hp2 |
intron_variant | MODIFIER | c.-45+8297G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146220412 | ||||||
| chr1:146220695
|
A | G | 1 | a0001c0001t0013g0001 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.-45+8014T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146220695 | ||||||
| chr1:146220696
|
A | C | 1 | a0001c0001t0013g0001 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.-45+8013T>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146220696 | ||||||
| chr1:146220697
|
A | G | 1 | a0001c0001t0013g0001 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.-45+8012T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146220697 | ||||||
| chr1:146220698
|
A | C | 1 | a0001c0001t0013g0001 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.-45+8011T>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146220698 | ||||||
| chr1:146220699
|
A | G | 1 | a0001c0001t0013g0001 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.-45+8010T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146220699 | ||||||
| chr1:146220700
|
A | C | 1 | a0001c0001t0013g0001 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.-45+8009T>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146220700 | ||||||
| chr1:146220701
|
G | T | 1 | a0001c0001t0013g0001 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.-45+8008C>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146220701 | ||||||
| chr1:146220704
|
G | A | 1 | a0001c0001t0013g0001 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.-45+8005C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146220704 | ||||||
| chr1:146220705
|
A | T | 1 | a0001c0001t0013g0001 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.-45+8004T>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146220705 | ||||||
| chr1:146220706
|
A | T | 1 | a0001c0001t0013g0001 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.-45+8003T>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146220706 | ||||||
| chr1:146220973
|
A | G | 40 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(37): Show | 40 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(37): Show |
intron_variant | MODIFIER | c.-45+7736T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146220973 | ||||||
| chr1:146220984
|
T | C | 40 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(37): Show | 40 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(37): Show |
intron_variant | MODIFIER | c.-45+7725A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146220984 | ||||||
| chr1:146221254
|
G | A | 8 | a0001c0001t0008g0023a0001c0001t0009g0020a0001c0001t0014g0030others(5): Show | 8 | HG00558.hp1 HG01099.hp1 HG02132.hp1 others(5): Show |
intron_variant | MODIFIER | c.-45+7455C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146221254 | ||||||
| chr1:146221398
|
T | G | 1 | a0001c0001t0009g0020 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.-45+7311A>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146221398 | ||||||
| chr1:146221461
|
A | G | 25 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(22): Show | 25 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(22): Show |
intron_variant | MODIFIER | c.-45+7248T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146221461 | ||||||
| chr1:146221683
|
T | C | 1 | a0001c0001t0010g0018 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.-45+7026A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146221683 | ||||||
| chr1:146221699
|
A | G | 26 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(23): Show | 26 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(23): Show |
intron_variant | MODIFIER | c.-45+7010T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146221699 | ||||||
| chr1:146222493
|
G | C | 1 | a0001c0001t0013g0001 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.-45+6216C>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146222493 | ||||||
| chr1:146222698
|
T | C | 2 | a0001c0001t0007g0015a0001c0001t0007g0016 | 2 | HG03225.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.-45+6011A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146222698 | ||||||
| chr1:146222734
|
C | T | 1 | a0001c0001t0001g0037 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.-45+5975G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146222734 | ||||||
| chr1:146222883
|
G | A | 2 | a0001c0001t0002g0002a0001c0001t0008g0033 | 2 | HG02523.hp1 NA19007.hp1 |
intron_variant | MODIFIER | c.-45+5826C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146222883 | ||||||
| chr1:146222956
|
TGA | T | 11 | a0001c0001t0008g0023a0001c0001t0009g0020a0001c0001t0010g0017others(8): Show | 11 | HG00558.hp1 HG00597.hp1 HG01099.hp1 others(8): Show |
intron_variant | MODIFIER | c.-45+5751_-45+5752d others(4): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146222956 | ||||||
| chr1:146223033
|
C | A | 1 | a0001c0001t0001g0055 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.-45+5676G>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146223033 | ||||||
| chr1:146223157
|
A | G | 2 | a0001c0001t0010g0017a0001c0001t0010g0018 | 2 | HG00597.hp1 HG03927.hp1 |
intron_variant | MODIFIER | c.-45+5552T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146223157 | ||||||
| chr1:146223491
|
T | C | 14 | a0001c0001t0002g0002a0001c0001t0008g0023a0001c0001t0008g0033others(11): Show | 14 | HG00558.hp1 HG00597.hp1 HG01099.hp1 others(11): Show |
intron_variant | MODIFIER | c.-45+5218A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146223491 | ||||||
| chr1:146223686
|
G | A | 4 | a0001c0001t0007g0015a0001c0001t0007g0016a0001c0001t0017g0019others(1): Show | 4 | HG03225.hp2 HG04204.hp1 NA19062.hp1 others(1): Show |
intron_variant | MODIFIER | c.-45+5023C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146223686 | ||||||
| chr1:146223883
|
C | T | 13 | a0001c0001t0002g0002a0001c0001t0008g0023a0001c0001t0008g0033others(10): Show | 13 | HG00558.hp1 HG00597.hp1 HG01099.hp1 others(10): Show |
intron_variant | MODIFIER | c.-45+4826G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146223883 | ||||||
| chr1:146224067
|
T | C | 44 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(41): Show | 44 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(41): Show |
intron_variant | MODIFIER | c.-45+4642A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146224067 | ||||||
| chr1:146224109
|
C | CA | 44 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(41): Show | 44 | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(41): Show |
intron_variant | MODIFIER | c.-45+4599dupT | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146224109 | ||||||
| chr1:146224359
|
A | G | 26 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(23): Show | 26 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(23): Show |
intron_variant | MODIFIER | c.-45+4350T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146224359 | ||||||
| chr1:146224805
|
A | G | 2 | a0001c0001t0013g0001a0001c0001t0016g0034 | 2 | HG03130.hp2 NA18990.hp2 |
intron_variant | MODIFIER | c.-45+3904T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146224805 | ||||||
| chr1:146225064
|
A | G | 1 | a0001c0001t0016g0034 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.-45+3645T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146225064 | ||||||
| chr1:146225109
|
T | A | 26 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(23): Show | 26 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(23): Show |
intron_variant | MODIFIER | c.-45+3600A>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146225109 | ||||||
| chr1:146225411
|
A | G | 16 | a0001c0001t0002g0002a0001c0001t0008g0023a0001c0001t0008g0033others(13): Show | 16 | HG00558.hp1 HG00597.hp1 HG01099.hp1 others(13): Show |
intron_variant | MODIFIER | c.-45+3298T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146225411 | ||||||
| chr1:146225485
|
A | G | 26 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(23): Show | 26 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(23): Show |
intron_variant | MODIFIER | c.-45+3224T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146225485 | ||||||
| chr1:146225690
|
T | C | 2 | a0001c0001t0010g0017a0001c0001t0010g0018 | 2 | HG00597.hp1 HG03927.hp1 |
intron_variant | MODIFIER | c.-45+3019A>G | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146225690 | ||||||
| chr1:146225712
|
A | G | 2 | a0001c0001t0029g0028a0003c0002t0028g0029 | 2 | HG03130.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.-45+2997T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146225712 | ||||||
| chr1:146226065
|
G | T | 14 | a0001c0001t0002g0002a0001c0001t0008g0023a0001c0001t0008g0033others(11): Show | 14 | HG00558.hp1 HG01099.hp1 HG01515.hp2 others(11): Show |
intron_variant | MODIFIER | c.-45+2644C>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146226065 | ||||||
| chr1:146226098
|
A | G | 2 | a0001c0001t0003g0027a0001c0001t0022g0026 | 2 | HG00408.hp1 NA19062.hp2 |
intron_variant | MODIFIER | c.-45+2611T>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146226098 | ||||||
| chr1:146226102
|
G | A | 1 | a0001c0001t0017g0019 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.-45+2607C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146226102 | ||||||
| chr1:146227917
|
G | A | 1 | a0001c0001t0002g0014 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.-45+792C>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146227917 | ||||||
| chr1:146228066
|
T | G | 6 | a0001c0001t0008g0023a0001c0001t0009g0020a0001c0001t0018g0021others(3): Show | 6 | HG00558.hp1 HG01099.hp1 HG02132.hp1 others(3): Show |
intron_variant | MODIFIER | c.-45+643A>C | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146228066 | ||||||
| chr1:146228485
|
C | CGGCGGGG others(13): Show |
11 | a0001c0001t0007g0015a0001c0001t0007g0016a0001c0001t0008g0023others(8): Show | 11 | HG00558.hp1 HG00597.hp1 HG01099.hp1 others(8): Show |
intron_variant | MODIFIER | c.-45+204_-45+223dup others(20): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146228485 | ||||||
| chr1:146228485
|
CGGCGGGG others(13): Show |
C | 1 | a0001c0001t0001g0059 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.-45+204_-45+223del others(20): Show |
NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146228485 |