Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| 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 | MCVTY others(231): Show |
chr1 | 146143865 | 146234021 |
| a0002 | 0/0 | 236 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | MCVTY others(231): Show |
chr1 | 146143865 | 146234021 |
| a0003 | 0/0 | 236 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | MCVTY others(231): Show |
chr1 | 146143865 | 146234021 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 708 | 56 | 7 | 4 | 31 | 2 | 12 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | ATGTG others(703): Show |
chr1 | 146143865 | 146234021 | ||
| a0001c0003 | 0/0 | 708 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | ATGTG others(703): Show |
chr1 | 146143865 | 146234021 | ||
| a0001c0004 | 0/0 | 708 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | ATGTG others(703): Show |
chr1 | 146143865 | 146234021 | ||
| a0002c0002 | 0/0 | 708 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | ATGTG others(703): Show |
chr1 | 146143865 | 146234021 | ||
| a0003c0005 | 0/0 | 708 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | ATGTG others(703): Show |
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 | ACACC others(8353): Show |
chr1 | 146143865 | 146234021 |
| a0001c0001t0002 | 0/0 | 8356 | 7 | 0 | 1 | 5 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | ACACC others(8351): Show |
chr1 | 146143865 | 146234021 |
| a0001c0001t0003 | 0/0 | 8356 | 5 | 0 | 0 | 2 | 0 | 3 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | ACACC others(8351): Show |
chr1 | 146143865 | 146234021 |
| a0001c0001t0004 | 0/0 | 8358 | 4 | 0 | 0 | 2 | 1 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | ACACC others(8353): Show |
chr1 | 146143865 | 146234021 |
| a0001c0001t0005 | 0/0 | 8360 | 3 | 0 | 0 | 3 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | ACACC others(8355): Show |
chr1 | 146143865 | 146234021 |
| a0001c0001t0006 | 0/0 | 8349 | 2 | 2 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | ACACC others(8344): Show |
chr1 | 146143865 | 146234021 |
| a0001c0001t0007 | 0/0 | 8352 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | ACACC others(8347): Show |
chr1 | 146143865 | 146234021 |
| a0001c0001t0008 | 0/0 | 8351 | 2 | 0 | 0 | 2 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | ACACC others(8346): Show |
chr1 | 146143865 | 146234021 |
| a0001c0001t0009 | 0/0 | 8355 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | ACACC others(8350): Show |
chr1 | 146143865 | 146234021 |
| a0001c0001t0010 | 0/0 | 8336 | 2 | 0 | 0 | 1 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | ACACC others(8331): Show |
chr1 | 146143865 | 146234021 |
| a0001c0001t0011 | 0/0 | 8351 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | ACACC others(8346): Show |
chr1 | 146143865 | 146234021 |
| a0001c0001t0012 | 0/0 | 8356 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | ACACC others(8351): Show |
chr1 | 146143865 | 146234021 |
| a0001c0001t0013 | 0/0 | 8345 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | ACACC others(8340): Show |
chr1 | 146143865 | 146234021 |
| a0001c0001t0014 | 0/0 | 8345 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | ACACC others(8340): Show |
chr1 | 146143865 | 146234021 |
| a0001c0001t0015 | 0/0 | 8351 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | ACACC others(8346): Show |
chr1 | 146143865 | 146234021 |
| a0001c0001t0016 | 0/0 | 8354 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | ACACC others(8349): Show |
chr1 | 146143865 | 146234021 |
| a0001c0001t0017 | 0/0 | 8354 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | ACACC others(8349): Show |
chr1 | 146143865 | 146234021 |
| a0001c0001t0018 | 0/0 | 8359 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | ACACC others(8354): Show |
chr1 | 146143865 | 146234021 |
| a0001c0001t0019 | 0/0 | 8359 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | ACACC others(8354): Show |
chr1 | 146143865 | 146234021 |
| a0001c0001t0021 | 0/0 | 8356 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | ACACC others(8351): Show |
chr1 | 146143865 | 146234021 |
| a0001c0001t0022 | 0/0 | 8360 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | ACACC others(8355): Show |
chr1 | 146143865 | 146234021 |
| a0001c0001t0023 | 0/0 | 8361 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | ACACC others(8356): Show |
chr1 | 146143865 | 146234021 |
| a0001c0001t0024 | 0/0 | 8362 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | ACACC others(8357): Show |
chr1 | 146143865 | 146234021 |
| a0001c0001t0026 | 0/0 | 8345 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | ACACC others(8340): Show |
chr1 | 146143865 | 146234021 |
| a0001c0001t0027 | 0/0 | 8351 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | ACACC others(8346): Show |
chr1 | 146143865 | 146234021 |
| a0001c0001t0028 | 0/0 | 8353 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | ACACC others(8348): Show |
chr1 | 146143865 | 146234021 |
| a0001c0001t0029 | 0/0 | 8352 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | ACACC others(8347): Show |
chr1 | 146143865 | 146234021 |
| a0001c0001t0030 | 0/0 | 8336 | 1 | 0 | 0 | 0 | 1 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | ACACC others(8331): Show |
chr1 | 146143865 | 146234021 |
| a0001c0001t0031 | 0/0 | 8336 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | ACACC others(8331): Show |
chr1 | 146143865 | 146234021 |
| a0001c0001t0032 | 0/0 | 8336 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | ACACC others(8331): Show |
chr1 | 146143865 | 146234021 |
| a0001c0001t0033 | 0/0 | 8362 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | ACACC others(8357): Show |
chr1 | 146143865 | 146234021 |
| a0001c0003t0009 | 0/0 | 8355 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | ACACC others(8350): Show |
chr1 | 146143865 | 146234021 |
| a0001c0004t0007 | 0/0 | 8352 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | ACACC others(8347): Show |
chr1 | 146143865 | 146234021 |
| a0002c0002t0025 | 0/0 | 8341 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | ACACC others(8336): Show |
chr1 | 146143865 | 146234021 |
| a0003c0005t0020 | 0/0 | 8359 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | ACACC others(8354): Show |
chr1 | 146143865 | 146234021 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0001g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0001g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0001g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0001g0034 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0001g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0001g0043 | 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 |
| a0001c0001t0002g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0002g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0002g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0002g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0002g0050 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0002g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0002g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0003g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0003g0024 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0003g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0003g0038 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0003g0040 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0004g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0004g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0004g0054 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0004g0055 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0005g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0005g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0005g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0006g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0006g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0007g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0008g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0008g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0009g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0010g0003 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0010g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0011g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0012g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0013g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0014g0005 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0015g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0016g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0017g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0018g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0019g0041 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0021g0023 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0022g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0023g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0024g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0026g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0027g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0028g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0029g0037 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0030g0019 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0031g0018 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0032g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0001t0033g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0003t0009g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0001c0004t0007g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0002c0002t0025g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| a0003c0005t0020g0039 | 0/0 | 1 | 0 | 0 | 1 | 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 | t0018 | g0012 | EAS | CHS | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG00408 | hp2 | a0001 | c0001 | t0003 | g0035 | EAS | CHS | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG00558 | hp1 | a0001 | c0001 | t0015 | g0007 | EAS | CHS | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG00558 | hp2 | a0001 | c0001 | t0005 | g0032 | EAS | CHS | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG00597 | hp1 | a0001 | c0001 | t0010 | g0004 | EAS | CHS | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG00597 | hp2 | a0001 | c0001 | t0023 | g0033 | EAS | CHS | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG00639 | hp1 | a0001 | c0001 | t0002 | g0053 | AMR | PUR | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG00639 | hp2 | a0001 | c0001 | t0001 | g0028 | AMR | PUR | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG01099 | hp1 | a0001 | c0001 | t0032 | g0011 | 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 | g0054 | EUR | IBS | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG01515 | hp2 | a0001 | c0001 | t0030 | g0019 | EUR | IBS | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG02132 | hp1 | a0001 | c0001 | t0008 | g0009 | EAS | KHV | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG02132 | hp2 | a0001 | c0001 | t0005 | g0030 | EAS | KHV | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG02155 | hp1 | a0001 | c0001 | t0001 | g0029 | EAS | CDX | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG02155 | hp2 | a0001 | c0001 | t0007 | g0047 | EAS | CDX | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG02523 | hp1 | a0001 | c0001 | t0002 | g0020 | EAS | KHV | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG02523 | hp2 | a0001 | c0001 | t0005 | g0031 | EAS | KHV | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG02735 | hp1 | a0001 | c0001 | t0002 | g0050 | SAS | PJL | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG02735 | hp2 | a0001 | c0001 | t0003 | g0024 | SAS | PJL | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG03130 | hp1 | a0002 | c0002 | t0025 | g0015 | AFR | ESN | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG03130 | hp2 | a0001 | c0001 | t0013 | g0022 | AFR | ESN | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG03225 | hp1 | a0001 | c0001 | t0011 | g0017 | AFR | MSL | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG03225 | hp2 | a0001 | c0001 | t0006 | g0002 | AFR | MSL | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG03453 | hp1 | a0001 | c0001 | t0026 | g0014 | AFR | MSL | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG03453 | hp2 | a0001 | c0001 | t0001 | g0036 | AFR | MSL | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG03654 | hp1 | a0001 | c0001 | t0003 | g0038 | SAS | PJL | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG03654 | hp2 | a0001 | c0001 | t0029 | g0037 | SAS | PJL | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG03688 | hp1 | a0001 | c0001 | t0004 | g0055 | SAS | STU | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG03688 | hp2 | a0001 | c0001 | t0003 | g0040 | SAS | STU | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG03927 | hp1 | a0001 | c0001 | t0010 | g0003 | SAS | BEB | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG03927 | hp2 | a0001 | c0001 | t0001 | g0034 | SAS | BEB | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG04199 | hp1 | a0001 | c0001 | t0019 | g0041 | SAS | STU | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG04199 | hp2 | a0001 | c0001 | t0031 | g0018 | SAS | STU | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG04204 | hp1 | a0001 | c0001 | t0014 | g0005 | SAS | STU | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| HG04204 | hp2 | a0001 | c0001 | t0021 | g0023 | SAS | STU | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA18952 | hp1 | a0001 | c0003 | t0009 | g0010 | EAS | JPT | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA18952 | hp2 | a0001 | c0001 | t0002 | g0046 | EAS | JPT | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA18953 | hp1 | a0003 | c0005 | t0020 | g0039 | EAS | JPT | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA18953 | hp2 | a0001 | c0004 | t0007 | g0056 | EAS | JPT | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA18974 | hp1 | a0001 | c0001 | t0022 | g0052 | EAS | JPT | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA18974 | hp2 | a0001 | c0001 | t0001 | g0026 | EAS | JPT | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA18990 | hp1 | a0001 | c0001 | t0004 | g0048 | EAS | JPT | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA18990 | hp2 | a0001 | c0001 | t0028 | g0016 | EAS | JPT | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA19007 | hp1 | a0001 | c0001 | t0008 | g0021 | EAS | JPT | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA19007 | hp2 | a0001 | c0001 | t0001 | g0025 | EAS | JPT | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA19057 | hp1 | a0001 | c0001 | t0002 | g0058 | EAS | JPT | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA19057 | hp2 | a0001 | c0001 | t0024 | g0042 | EAS | JPT | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA19062 | hp1 | a0001 | c0001 | t0016 | g0057 | EAS | JPT | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA19062 | hp2 | a0001 | c0001 | t0003 | g0013 | EAS | JPT | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA19066 | hp1 | a0001 | c0001 | t0027 | g0008 | EAS | JPT | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA19066 | hp2 | a0001 | c0001 | t0002 | g0045 | EAS | JPT | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA19079 | hp1 | a0001 | c0001 | t0001 | g0043 | EAS | JPT | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA19079 | hp2 | a0001 | c0001 | t0012 | g0027 | EAS | JPT | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA19085 | hp1 | a0001 | c0001 | t0009 | g0006 | EAS | JPT | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA19085 | hp2 | a0001 | c0001 | t0002 | g0049 | EAS | JPT | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA19091 | hp1 | a0001 | c0001 | t0017 | g0051 | EAS | JPT | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA19091 | hp2 | a0001 | c0001 | t0004 | g0044 | EAS | JPT | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA20300 | hp1 | a0001 | c0001 | t0006 | g0001 | AFR | USA | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| NA20300 | hp2 | a0001 | c0001 | t0033 | g0060 | AFR | USA | NOTCH2NLA_chr1_146143865_146234021 | NOTCH2NLA | chr1 | 146143865 | 146234021 |
| view | 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 | a0003 | 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 | a0002 | 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 |
| view | 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 |
| view | 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 | a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 others(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 | a0001c0001t0010 a0001c0001t0014 a0001c0001t0026 others(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 | a0001c0001t0010 a0001c0001t0030 a0001c0001t0031 others(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 | a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(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 | a0001c0001t0030 | 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 | a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 others(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 | a0003c0005t0020 | 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 | a0001c0001t0006 a0001c0001t0014 a0001c0001t0016 |
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 | a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 others(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 | a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(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 | a0001c0001t0013 a0001c0001t0018 |
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 | a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(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 | a0001c0001t0031 | 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 | a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 others(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 | a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 others(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 | a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 others(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 | a0001c0001t0026 a0002c0002t0025 |
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 | a0001c0001t0013 | 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 | a0001c0001t0010 a0001c0001t0030 a0001c0001t0031 others(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 | a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(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 | a0001c0001t0032 | 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 | a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(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 | a0001c0001t0026 a0002c0002t0025 |
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 | a0001c0001t0027 | 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 | a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 others(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 | a0001c0001t0021 | 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 | 5 | a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 others(2): 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 | a0001c0001t0005 a0001c0001t0022 a0001c0001t0023 |
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 | a0001c0001t0024 a0001c0001t0033 |
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 | a0001c0001t0009 a0001c0001t0016 a0001c0001t0017 others(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 | a0001c0001t0007 a0001c0001t0015 a0001c0001t0028 others(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 | a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 others(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 | a0001c0001t0013 a0001c0001t0014 a0001c0001t0026 |
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 | a0002c0002t0025 | 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 | a0001c0001t0010 a0001c0001t0030 a0001c0001t0031 others(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 | a0001c0001t0010 a0001c0001t0030 a0001c0001t0031 others(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 | a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 others(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 | a0001c0001t0029 | 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 | a0001c0001t0012 | 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 | a0001c0001t0010 a0001c0001t0030 a0001c0001t0031 others(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 | a0001c0001t0011 | 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 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(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 | a0001c0001t0033 | 1 | NA20300.hp2 | 5_prime_UTR_variant | MODIFIER | c.-339G>T | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/5 | 39666 | chr1 | 146229003 |
| view | 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 | a0001c0001t0005g0030 | 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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0014g0005 | 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 | a0001c0001t0026g0014 a0002c0002t0025g0015 |
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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0001g0036 | 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 | a0001c0001t0006g0001 a0001c0001t0006g0002 |
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 | a0001c0001t0017g0051 | 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 | a0001c0001t0003g0013 | 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 | a0001c0001t0028g0016 | 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 | a0001c0001t0011g0017 | 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 | a0001c0001t0002g0020 a0001c0001t0002g0049 |
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 | a0001c0001t0011g0017 | 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 | a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 others(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 | a0001c0001t0001g0036 a0001c0001t0002g0020 a0001c0001t0002g0050 others(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 | a0001c0001t0023g0033 | 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 | a0001c0001t0002g0045 a0001c0001t0017g0051 |
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 | a0001c0001t0002g0049 a0001c0001t0002g0053 a0001c0001t0003g0038 others(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 | a0001c0001t0005g0032 a0001c0001t0006g0001 a0001c0001t0026g0014 |
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 | a0002c0002t0025g0015 | 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 | a0001c0001t0022g0052 | 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 | a0001c0001t0018g0012 | 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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0002g0020 a0001c0001t0004g0054 a0001c0001t0004g0055 others(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 | a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0043 others(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 | a0001c0001t0001g0029 a0001c0001t0003g0038 a0001c0001t0003g0040 others(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 | a0001c0001t0023g0033 | 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 | a0001c0001t0010g0003 a0001c0001t0010g0004 a0001c0001t0030g0019 others(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 | a0001c0001t0010g0003 a0001c0001t0010g0004 a0001c0001t0030g0019 others(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 | a0001c0001t0008g0009 a0001c0001t0008g0021 a0001c0001t0009g0006 others(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 | a0001c0001t0008g0009 a0001c0001t0008g0021 a0001c0001t0009g0006 others(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 | a0001c0001t0008g0009 a0001c0001t0008g0021 a0001c0001t0011g0017 others(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 | a0001c0001t0001g0036 | 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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0008g0009 a0001c0001t0008g0021 a0001c0001t0009g0006 others(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 | a0001c0001t0024g0042 | 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 | a0002c0002t0025g0015 | 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 | a0001c0001t0013g0022 | 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 | a0001c0001t0008g0009 a0001c0001t0008g0021 a0001c0001t0009g0006 others(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 | a0001c0001t0010g0003 a0001c0001t0010g0004 a0001c0001t0030g0019 others(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 | a0001c0001t0008g0009 a0001c0001t0008g0021 a0001c0001t0009g0006 others(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 | a0001c0001t0026g0014 a0002c0002t0025g0015 |
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 | a0001c0001t0008g0009 a0001c0001t0008g0021 a0001c0001t0009g0006 others(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 | a0001c0001t0001g0036 | 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 | a0001c0001t0013g0022 | 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 | a0002c0002t0025g0015 | 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 | a0001c0001t0021g0023 | 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 | a0002c0002t0025g0015 | 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 | a0001c0001t0008g0009 a0001c0001t0008g0021 a0001c0001t0009g0006 others(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 | a0001c0001t0008g0009 a0001c0001t0008g0021 a0001c0001t0009g0006 others(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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0002c0002t0025g0015 | 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 | a0001c0001t0026g0014 a0002c0002t0025g0015 |
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 | a0002c0002t0025g0015 | 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 | a0001c0001t0002g0020 | 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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0010g0003 a0001c0001t0010g0004 a0001c0001t0030g0019 others(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 | a0001c0001t0008g0009 a0001c0001t0008g0021 a0001c0001t0009g0006 others(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 | a0001c0001t0001g0043 | 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 | a0001c0001t0003g0013 a0001c0001t0003g0035 |
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 | a0001c0001t0001g0043 a0001c0001t0010g0003 a0001c0001t0010g0004 others(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 | a0001c0001t0009g0006 a0001c0001t0026g0014 a0002c0002t0025g0015 |
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 | a0001c0001t0006g0001 | 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 | a0001c0001t0004g0044 | 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 | a0001c0001t0032g0011 | 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 | a0001c0001t0026g0014 a0002c0002t0025g0015 |
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 | a0002c0002t0025g0015 | 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 | a0001c0001t0027g0008 | 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 | a0001c0001t0026g0014 a0002c0002t0025g0015 |
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 | a0001c0001t0008g0009 a0001c0001t0008g0021 a0001c0001t0009g0006 others(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 | a0001c0001t0003g0013 a0001c0001t0003g0035 |
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 | a0001c0001t0010g0003 a0001c0001t0010g0004 a0001c0001t0030g0019 others(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 | a0001c0001t0008g0009 a0001c0001t0008g0021 a0001c0001t0009g0006 others(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 | a0001c0001t0013g0022 | 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 | a0001c0001t0008g0009 a0001c0001t0008g0021 a0001c0001t0009g0006 others(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 | a0001c0001t0006g0002 | 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 | a0001c0001t0030g0019 | 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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0018g0012 | 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 | a0001c0001t0008g0009 a0001c0001t0008g0021 a0001c0001t0009g0006 others(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 | a0001c0001t0004g0054 | 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 | a0001c0001t0010g0003 a0001c0001t0010g0004 a0001c0001t0030g0019 others(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 | a0001c0004t0007g0056 | 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 | a0001c0001t0008g0009 a0001c0001t0008g0021 a0001c0001t0009g0006 others(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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0008g0009 a0001c0001t0008g0021 a0001c0001t0009g0006 others(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 | a0001c0001t0010g0003 a0001c0001t0010g0004 a0001c0001t0026g0014 others(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 | a0001c0001t0015g0007 a0001c0004t0007g0056 |
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 | a0001c0001t0026g0014 a0002c0002t0025g0015 |
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 | a0001c0001t0010g0003 a0001c0001t0026g0014 a0001c0001t0030g0019 others(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 | a0001c0001t0026g0014 a0002c0002t0025g0015 |
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 | a0001c0001t0004g0048 | 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 | a0001c0001t0010g0003 a0001c0001t0032g0011 |
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 | a0001c0001t0008g0009 a0001c0001t0008g0021 a0001c0001t0009g0006 others(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 | a0001c0001t0026g0014 a0002c0002t0025g0015 |
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 | a0001c0001t0008g0009 a0001c0001t0008g0021 a0001c0001t0009g0006 others(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 | a0001c0001t0026g0014 a0002c0002t0025g0015 |
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 | a0001c0001t0026g0014 a0002c0002t0025g0015 |
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 | a0001c0001t0026g0014 a0002c0002t0025g0015 |
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 | a0001c0001t0010g0003 a0001c0001t0026g0014 a0001c0001t0030g0019 others(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 | a0001c0001t0010g0003 a0001c0001t0026g0014 a0001c0001t0030g0019 others(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 | a0001c0001t0008g0009 a0001c0001t0008g0021 a0001c0001t0009g0006 others(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 | a0001c0001t0008g0009 a0001c0001t0008g0021 a0001c0001t0009g0006 others(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 | a0001c0001t0008g0009 a0001c0001t0008g0021 a0001c0001t0009g0006 others(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 | a0001c0001t0026g0014 a0002c0002t0025g0015 |
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 | a0001c0001t0026g0014 a0002c0002t0025g0015 |
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 | a0001c0001t0026g0014 a0002c0002t0025g0015 |
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 | a0001c0001t0006g0002 | 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 | a0001c0001t0026g0014 a0001c0001t0030g0019 a0001c0001t0031g0018 others(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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0009g0006 a0001c0001t0011g0017 a0001c0001t0027g0008 others(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 | a0001c0001t0006g0001 a0001c0001t0006g0002 a0001c0001t0014g0005 others(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 | a0001c0001t0009g0006 a0001c0001t0011g0017 a0001c0001t0027g0008 others(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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0008g0009 a0001c0001t0008g0021 a0001c0001t0009g0006 others(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 | a0001c0001t0031g0018 | 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 | a0001c0001t0030g0019 a0001c0001t0031g0018 |
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 | a0001c0001t0002g0050 | 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 | a0001c0001t0013g0022 | 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 | a0001c0001t0030g0019 a0001c0001t0031g0018 |
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 | a0001c0001t0002g0053 a0001c0001t0008g0009 a0001c0001t0008g0021 others(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 | a0001c0001t0008g0009 a0001c0001t0008g0021 a0001c0001t0009g0006 others(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 | a0001c0001t0026g0014 a0002c0002t0025g0015 |
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 | a0001c0001t0031g0018 | 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 | a0001c0001t0026g0014 a0001c0001t0031g0018 a0002c0002t0025g0015 |
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 | a0001c0001t0024g0042 | 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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0008g0009 a0001c0001t0008g0021 a0001c0001t0009g0006 others(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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0008g0009 a0001c0001t0008g0021 |
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 | a0001c0001t0028g0016 a0001c0003t0009g0010 |
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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0028g0016 a0001c0003t0009g0010 |
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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0001g0043 | 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 | a0001c0001t0006g0001 a0001c0001t0006g0002 a0001c0001t0014g0005 others(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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0005g0031 | 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 | a0001c0001t0008g0009 a0001c0001t0008g0021 a0001c0001t0009g0006 others(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 | a0001c0001t0001g0043 a0001c0001t0008g0009 a0001c0001t0008g0021 others(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 | a0001c0001t0006g0001 a0001c0001t0006g0002 a0001c0001t0014g0005 others(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 | a0001c0001t0001g0059 a0001c0001t0032g0011 |
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 | a0001c0001t0006g0001 a0001c0001t0006g0002 a0001c0001t0014g0005 others(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 | a0001c0001t0013g0022 a0002c0002t0025g0015 |
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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0021g0023 | 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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0008g0009 a0001c0001t0008g0021 a0001c0001t0009g0006 others(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 | a0001c0001t0001g0043 | 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 | a0001c0001t0008g0009 a0001c0001t0008g0021 a0001c0001t0009g0006 others(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 | a0001c0001t0008g0009 a0001c0001t0008g0021 a0001c0001t0009g0006 others(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 | a0001c0001t0015g0007 a0001c0004t0007g0056 |
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 | a0001c0001t0002g0053 | 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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0006g0001 a0001c0001t0006g0002 a0001c0001t0008g0009 others(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 | a0001c0001t0002g0046 | 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 | a0001c0001t0013g0022 a0001c0001t0026g0014 a0002c0002t0025g0015 |
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 | a0001c0001t0001g0029 | 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 | a0001c0001t0021g0023 | 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 | a0001c0001t0006g0001 a0001c0001t0006g0002 |
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 | a0001c0001t0008g0009 a0001c0001t0008g0021 a0001c0001t0009g0006 others(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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0011g0017 | 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 | a0001c0001t0008g0009 a0001c0001t0008g0021 a0001c0001t0009g0006 others(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 | a0001c0001t0004g0054 a0001c0001t0030g0019 |
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 | a0001c0001t0002g0050 | 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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0026g0014 a0002c0002t0025g0015 |
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 | a0001c0001t0026g0014 a0002c0002t0025g0015 |
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 | a0001c0001t0011g0017 | 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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0001g0034 a0001c0001t0010g0003 |
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 | a0001c0001t0008g0009 a0001c0001t0008g0021 a0001c0001t0009g0006 others(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 | a0001c0001t0008g0009 a0001c0001t0008g0021 a0001c0001t0009g0006 others(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 | a0001c0001t0008g0009 a0001c0001t0008g0021 a0001c0001t0009g0006 others(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 | a0001c0001t0006g0001 a0001c0001t0006g0002 a0001c0001t0014g0005 others(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 | a0001c0001t0007g0047 | 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 | a0001c0001t0006g0001 a0001c0001t0006g0002 a0001c0001t0008g0009 others(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 | a0001c0001t0026g0014 | 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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0006g0002 | 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 | a0001c0001t0006g0001 a0001c0001t0006g0002 a0001c0001t0014g0005 others(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 | a0001c0001t0002g0020 a0001c0001t0002g0046 a0001c0001t0002g0053 others(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 | a0001c0001t0008g0009 a0001c0001t0008g0021 a0001c0001t0009g0006 others(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 | a0001c0001t0003g0038 a0001c0001t0006g0001 a0001c0001t0010g0004 others(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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 others(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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0013g0022 | 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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0003g0013 a0001c0001t0006g0002 a0001c0001t0016g0057 |
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 | a0001c0001t0011g0017 | 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 | a0001c0001t0011g0017 | 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 | a0001c0001t0007g0047 | 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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0015g0007 a0001c0004t0007g0056 |
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 | a0001c0003t0009g0010 | 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 | a0001c0001t0008g0009 a0001c0001t0008g0021 a0001c0001t0009g0006 others(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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0011g0017 | 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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0003g0040 | 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 | a0001c0001t0015g0007 a0001c0004t0007g0056 |
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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0008g0021 | 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 | a0001c0001t0013g0022 | 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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0008g0009 a0001c0001t0009g0006 a0001c0001t0027g0008 others(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 | a0001c0001t0001g0043 | 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 | a0001c0001t0008g0021 | 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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0008g0021 | 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 | a0001c0001t0011g0017 | 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 | a0001c0001t0001g0034 a0001c0001t0002g0058 a0001c0001t0008g0021 others(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 | a0001c0001t0008g0009 a0001c0001t0009g0006 a0001c0001t0027g0008 others(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 | a0001c0001t0026g0014 a0002c0002t0025g0015 |
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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0008g0009 a0001c0001t0009g0006 a0001c0001t0027g0008 others(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 | a0001c0001t0026g0014 a0002c0002t0025g0015 |
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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0008g0009 a0001c0001t0009g0006 a0001c0001t0027g0008 others(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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0026g0014 | 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 | a0001c0001t0009g0006 | 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 | a0001c0001t0011g0017 | 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 | a0001c0001t0003g0024 | 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 | a0001c0001t0011g0017 | 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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0003g0038 a0001c0001t0029g0037 |
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 | a0002c0002t0025g0015 | 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 | a0001c0001t0026g0014 | 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 | a0001c0001t0008g0009 | 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 | a0001c0001t0028g0016 | 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 | a0001c0001t0027g0008 | 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 | a0001c0001t0001g0034 a0001c0001t0010g0003 a0001c0001t0010g0004 others(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 | a0001c0001t0008g0021 | 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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0011g0017 | 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 | a0001c0001t0001g0036 a0001c0001t0003g0038 a0001c0001t0003g0040 others(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 | a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0049 others(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 | a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0058 others(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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0001g0036 | 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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0001g0026 | 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 | a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0043 others(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 | a0001c0001t0026g0014 a0002c0002t0025g0015 |
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 | a0001c0001t0031g0018 | 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 | a0001c0001t0031g0018 | 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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0004g0055 a0001c0001t0006g0001 a0001c0001t0006g0002 others(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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0002c0002t0025g0015 | 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 | a0001c0001t0006g0002 | 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 | a0001c0001t0013g0022 | 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 | a0001c0001t0001g0034 a0001c0001t0010g0003 |
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 | a0001c0001t0033g0060 | 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 | a0001c0001t0008g0009 a0001c0001t0027g0008 |
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 | a0001c0001t0008g0009 a0001c0001t0027g0008 |
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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0031g0018 | 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 | a0001c0001t0011g0017 | 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 | a0001c0001t0014g0005 a0001c0001t0016g0057 a0001c0001t0024g0042 others(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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0013g0022 | 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 | a0001c0001t0008g0021 | 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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0011g0017 | 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 | a0001c0001t0026g0014 | 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 | a0001c0001t0006g0002 a0001c0001t0014g0005 a0001c0001t0016g0057 |
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 | a0001c0001t0001g0025 | 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 | a0001c0001t0026g0014 a0002c0002t0025g0015 |
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 | a0001c0001t0026g0014 a0002c0002t0025g0015 |
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 | a0001c0001t0002g0053 a0001c0001t0004g0055 |
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 | a0001c0001t0005g0032 | 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 | a0001c0001t0011g0017 | 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 | a0001c0001t0011g0017 a0001c0001t0015g0007 a0001c0004t0007g0056 |
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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0001g0034 a0001c0001t0003g0013 a0001c0001t0010g0003 others(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 | a0001c0001t0002g0053 | 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 | a0001c0001t0031g0018 | 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 | a0001c0001t0026g0014 a0002c0002t0025g0015 |
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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0014g0005 a0001c0001t0016g0057 |
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 | a0001c0001t0008g0021 | 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 | a0001c0001t0026g0014 a0002c0002t0025g0015 |
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 | a0001c0001t0003g0038 a0001c0001t0029g0037 |
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 | a0001c0001t0011g0017 a0001c0001t0031g0018 |
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 | a0001c0001t0004g0054 a0001c0001t0030g0019 |
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 | a0001c0001t0018g0012 a0001c0001t0019g0041 |
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 | a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0059 others(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 | a0001c0001t0001g0026 a0001c0001t0001g0043 a0001c0001t0005g0030 others(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 | a0001c0001t0001g0036 a0001c0001t0014g0005 a0001c0001t0033g0060 |
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 | a0001c0001t0001g0028 a0001c0001t0003g0035 a0001c0001t0012g0027 |
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 | a0001c0001t0001g0029 a0001c0001t0006g0002 |
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 | a0001c0001t0006g0001 | 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 | a0001c0001t0010g0004 a0001c0001t0023g0033 |
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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0001g0034 a0001c0001t0010g0003 |
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 | a0001c0001t0011g0017 a0001c0001t0031g0018 |
2 | HG03225.hp1 HG04199.hp2 |
intron_variant | MODIFIER | c.-44-18660G>A | NOTCH2NLA | ENSG00000264343.7 | transcript | ENST00000362074.8 | protein_coding | 1/4 | chr1 | 146208041 | |||||||
| chr1:146208182 | A | T | 1 | a0001c0001t0011g0017 | 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 | a0001c0001t0011g0017 | 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 | a0001c0001t0026g0014 a0002c0002t0025g0015 |
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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0008g0021 others(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 | a0001c0001t0008g0021 a0001c0001t0011g0017 a0001c0001t0015g0007 others(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 | a0001c0001t0004g0054 a0001c0001t0008g0021 a0001c0001t0011g0017 others(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 | a0001c0001t0004g0054 a0001c0001t0008g0021 a0001c0001t0011g0017 others(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 | a0001c0001t0008g0021 a0001c0001t0011g0017 a0001c0001t0015g0007 others(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 | a0001c0001t0011g0017 | 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 | a0001c0001t0011g0017 | 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 | a0001c0001t0011g0017 | 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 | a0001c0001t0011g0017 | 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 | a0001c0001t0008g0021 a0001c0001t0011g0017 a0001c0001t0030g0019 others(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 | a0001c0001t0002g0046 a0001c0001t0002g0058 a0001c0003t0009g0010 |
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 | a0001c0001t0008g0021 a0001c0001t0011g0017 a0001c0001t0015g0007 others(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 | a0001c0001t0002g0020 a0001c0001t0006g0001 a0001c0001t0006g0002 others(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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0011g0017 | 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 | a0001c0001t0011g0017 a0001c0001t0031g0018 |
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 | a0001c0001t0011g0017 | 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 | a0001c0001t0011g0017 | 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 | a0001c0001t0026g0014 a0002c0002t0025g0015 |
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 | a0001c0001t0026g0014 a0002c0002t0025g0015 |
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 | a0001c0001t0004g0055 a0001c0001t0011g0017 a0001c0001t0031g0018 |
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 | a0001c0001t0026g0014 a0002c0002t0025g0015 |
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 | a0001c0001t0011g0017 | 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 | a0001c0001t0011g0017 | 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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0026g0014 a0002c0002t0025g0015 |
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 | a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0005g0030 others(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 | a0001c0001t0011g0017 | 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 | a0001c0001t0011g0017 | 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 | a0001c0001t0011g0017 | 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 | a0001c0001t0001g0028 | 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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0033g0060 | 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 | a0001c0001t0026g0014 a0002c0002t0025g0015 |
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 | a0001c0001t0026g0014 a0002c0002t0025g0015 |
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 | a0001c0001t0026g0014 a0002c0002t0025g0015 |
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 | a0001c0001t0006g0001 a0001c0001t0006g0002 a0001c0001t0014g0005 others(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 | a0001c0001t0026g0014 a0002c0002t0025g0015 |
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 | a0001c0003t0009g0010 | 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 | a0001c0001t0008g0009 a0001c0001t0009g0006 a0001c0001t0011g0017 others(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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0013g0022 | 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 | a0001c0001t0009g0006 a0001c0001t0010g0004 a0001c0001t0011g0017 others(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 | a0001c0001t0008g0009 | 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 | a0001c0001t0008g0009 a0001c0001t0009g0006 a0001c0001t0010g0004 others(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 | a0001c0001t0008g0009 a0001c0001t0009g0006 a0001c0001t0010g0004 others(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 | a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0029 others(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 | a0001c0001t0011g0017 a0001c0001t0027g0008 |
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 | a0001c0001t0009g0006 | 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 | a0001c0001t0015g0007 a0001c0001t0032g0011 |
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 | a0001c0003t0009g0010 | 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 | a0001c0001t0010g0004 | 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 | a0001c0001t0008g0009 | 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 | a0001c0001t0008g0009 a0001c0001t0009g0006 a0001c0001t0010g0004 others(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 | a0001c0001t0008g0009 a0001c0001t0009g0006 a0001c0001t0010g0004 others(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 | a0001c0001t0002g0020 a0001c0001t0006g0001 a0001c0001t0006g0002 others(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 | a0001c0001t0026g0014 a0002c0002t0025g0015 |
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 | a0001c0001t0032g0011 | 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 | a0001c0001t0008g0009 a0001c0001t0009g0006 a0001c0001t0011g0017 others(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 | a0001c0001t0028g0016 | 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 | a0001c0001t0028g0016 | 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 | a0001c0001t0028g0016 | 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 | a0001c0001t0028g0016 | 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 | a0001c0001t0028g0016 | 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 | a0001c0001t0028g0016 | 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 | a0001c0001t0028g0016 | 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 | a0001c0001t0028g0016 | 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 | a0001c0001t0028g0016 | 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 | a0001c0001t0002g0045 a0001c0001t0004g0044 |
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 | a0001c0001t0028g0016 | 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 | a0001c0001t0028g0016 | 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 | a0001c0001t0028g0016 | 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 | a0001c0001t0028g0016 | 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 | a0001c0001t0028g0016 | 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 | a0001c0001t0028g0016 | 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 | a0001c0001t0028g0016 | 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 | a0001c0001t0028g0016 | 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 | a0001c0001t0028g0016 | 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 | a0001c0001t0028g0016 | 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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0008g0009 a0001c0001t0009g0006 a0001c0001t0011g0017 others(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 | a0001c0001t0009g0006 | 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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0010g0004 | 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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0028g0016 | 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 | a0001c0001t0006g0001 a0001c0001t0006g0002 |
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 | a0001c0001t0001g0025 | 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 | a0001c0001t0002g0020 a0001c0001t0008g0021 |
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 | a0001c0001t0008g0009 a0001c0001t0009g0006 a0001c0001t0010g0003 others(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 | a0001c0001t0001g0043 | 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 | a0001c0001t0010g0003 a0001c0001t0010g0004 |
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 | a0001c0001t0002g0020 a0001c0001t0008g0009 a0001c0001t0008g0021 others(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 | a0001c0001t0006g0001 a0001c0001t0006g0002 a0001c0001t0014g0005 others(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 | a0001c0001t0002g0020 a0001c0001t0008g0009 a0001c0001t0008g0021 others(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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0013g0022 a0001c0001t0028g0016 |
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 | a0001c0001t0013g0022 | 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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0002g0020 a0001c0001t0008g0009 a0001c0001t0008g0021 others(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 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(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 | a0001c0001t0010g0003 a0001c0001t0010g0004 |
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 | a0001c0001t0026g0014 a0002c0002t0025g0015 |
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 | a0001c0001t0002g0020 a0001c0001t0008g0009 a0001c0001t0008g0021 others(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 | a0001c0001t0003g0013 a0001c0001t0018g0012 |
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 | a0001c0001t0014g0005 | 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 | a0001c0001t0002g0058 | 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 | a0001c0001t0008g0009 a0001c0001t0009g0006 a0001c0001t0015g0007 others(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 | a0001c0001t0006g0001 a0001c0001t0006g0002 a0001c0001t0008g0009 others(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 |