Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 80184 |
|---|---|
| ensemblid | ENSG00000198707.17 |
| hgncid | 29021 |
| symbol | CEP290 |
| name | centrosomal protein 290 |
| refseq_nuc | NM_025114.4 |
| refseq_prot | NP_079390.3 |
| ensembl_nuc | ENST00000552810.6 |
| ensembl_prot | ENSP00000448012.1 |
| mane_status | MANE Select |
| chr | chr12 |
| start | 88049016 |
| end | 88142088 |
| strand | - |
| ver | v1.2 |
| region | chr12:88049016-88142088 |
| region5000 | chr12:88044016-88147088 |
| regionname0 | CEP290_chr12_88049016_88142088 |
| regionname5000 | CEP290_chr12_88044016_88147088 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 2479 | 134 | 48 | 26 | 34 | 4 | 20 | 24 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0002 | 0/0 | 2479 | 31 | 0 | 6 | 24 | 0 | 1 | 22 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0003 | 0/0 | 2479 | 16 | 16 | 0 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0004 | 0/0 | 2479 | 13 | 10 | 3 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0005 | 0/0 | 2479 | 12 | 2 | 2 | 8 | 0 | 0 | 6 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0006 | 0/0 | 2479 | 10 | 1 | 2 | 2 | 0 | 5 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0007 | 0/0 | 2479 | 3 | 0 | 0 | 1 | 0 | 2 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0008 | 0/0 | 2479 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0009 | 0/0 | 2479 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0010 | 0/0 | 2479 | 2 | 0 | 0 | 2 | 0 | 0 | 2 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0011 | 0/0 | 1925 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0012 | 0/0 | 2479 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0013 | 0/0 | 2479 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0014 | 0/0 | 2479 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0015 | 0/0 | 2479 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0016 | 0/0 | 2479 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0017 | 0/0 | 2479 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| chapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 0/1 | 7440 | 106 | 26 | 23 | 34 | 4 | 18 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| c0002 | 0/0 | 7440 | 31 | 0 | 6 | 24 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| c0003 | 1/0 | 7440 | 20 | 17 | 2 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| c0004 | 0/0 | 7440 | 16 | 16 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| c0005 | 0/0 | 7440 | 13 | 10 | 3 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| c0006 | 0/0 | 7440 | 11 | 2 | 2 | 7 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| c0007 | 0/0 | 7440 | 6 | 1 | 0 | 2 | 0 | 3 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| c0008 | 0/0 | 7440 | 4 | 1 | 1 | 0 | 0 | 2 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| c0009 | 0/0 | 7440 | 4 | 0 | 2 | 0 | 0 | 2 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| c0010 | 0/0 | 7440 | 3 | 3 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| c0011 | 0/0 | 7440 | 3 | 3 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| c0012 | 0/0 | 7440 | 2 | 0 | 0 | 0 | 0 | 2 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| c0013 | 0/0 | 7440 | 2 | 0 | 0 | 2 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| c0014 | 0/0 | 7440 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| c0015 | 0/0 | 7440 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| c0016 | 0/0 | 7440 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| c0017 | 0/0 | 7440 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| c0018 | 0/0 | 7440 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| c0019 | 0/0 | 7440 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| c0020 | 0/0 | 7440 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| c0021 | 0/0 | 7440 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| c0022 | 0/0 | 7440 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| c0023 | 0/0 | 7440 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| c0024 | 0/0 | 7440 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| c0025 | 0/0 | 7440 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| c0026 | 0/0 | 7440 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| thapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 1/1 | 385 | 219 | 75 | 36 | 74 | 4 | 28 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| t0002 | 0/0 | 381 | 13 | 10 | 3 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| t0003 | 0/0 | 385 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| t0004 | 0/0 | 381 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 4 | 4 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0002 | 0/0 | 4 | 1 | 0 | 3 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0003 | 0/0 | 3 | 2 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0004 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0005 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0006 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0007 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0008 | 0/0 | 2 | 0 | 1 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0009 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0010 | 0/0 | 2 | 0 | 1 | 0 | 1 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0011 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0012 | 0/1 | 2 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0013 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0034 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0050 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0053 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0055 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0086 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0087 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0091 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0096 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0097 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0102 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0104 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0105 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0107 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0108 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0109 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0115 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0122 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0123 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0126 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0127 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0129 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0130 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0131 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0132 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0134 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0135 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0143 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0144 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0149 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0151 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0155 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0156 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0157 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0159 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0160 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0161 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0163 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0165 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0167 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0168 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0169 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0172 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0173 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0175 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0177 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0179 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0184 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0185 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0189 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0196 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0197 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0198 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0202 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0203 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0205 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0206 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0208 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0209 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0210 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0212 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0213 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0214 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/1 | 7440 | 106 | 26 | 23 | 34 | 4 | 18 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0001c0003 | 1/0 | 7440 | 20 | 17 | 2 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0001c0008 | 0/0 | 7440 | 4 | 1 | 1 | 0 | 0 | 2 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0001c0017 | 0/0 | 7440 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0001c0018 | 0/0 | 7440 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0001c0019 | 0/0 | 7440 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0001c0020 | 0/0 | 7440 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0002c0002 | 0/0 | 7440 | 31 | 0 | 6 | 24 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0003c0004 | 0/0 | 7440 | 16 | 16 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0004c0005 | 0/0 | 7440 | 13 | 10 | 3 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0005c0006 | 0/0 | 7440 | 11 | 2 | 2 | 7 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0005c0015 | 0/0 | 7440 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0006c0007 | 0/0 | 7440 | 6 | 1 | 0 | 2 | 0 | 3 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0006c0009 | 0/0 | 7440 | 4 | 0 | 2 | 0 | 0 | 2 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0007c0012 | 0/0 | 7440 | 2 | 0 | 0 | 0 | 0 | 2 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0007c0014 | 0/0 | 7440 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0008c0011 | 0/0 | 7440 | 3 | 3 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0009c0010 | 0/0 | 7440 | 3 | 3 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0010c0013 | 0/0 | 7440 | 2 | 0 | 0 | 2 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0011c0026 | 0/0 | 7440 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0012c0025 | 0/0 | 7440 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0013c0023 | 0/0 | 7440 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0014c0022 | 0/0 | 7440 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0015c0021 | 0/0 | 7440 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0016c0024 | 0/0 | 7440 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0017c0016 | 0/0 | 7440 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/1 | 7824 | 106 | 26 | 23 | 34 | 4 | 18 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0001c0003t0001 | 1/0 | 7824 | 18 | 16 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0001c0003t0002 | 0/0 | 7820 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0001c0003t0003 | 0/0 | 7824 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0001c0008t0001 | 0/0 | 7824 | 4 | 1 | 1 | 0 | 0 | 2 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0001c0017t0001 | 0/0 | 7824 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0001c0018t0001 | 0/0 | 7824 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0001c0019t0001 | 0/0 | 7824 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0001c0020t0001 | 0/0 | 7824 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0002c0002t0001 | 0/0 | 7824 | 31 | 0 | 6 | 24 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0003c0004t0001 | 0/0 | 7824 | 16 | 16 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0004c0005t0002 | 0/0 | 7820 | 12 | 9 | 3 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0004c0005t0004 | 0/0 | 7820 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0005c0006t0001 | 0/0 | 7824 | 11 | 2 | 2 | 7 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0005c0015t0001 | 0/0 | 7824 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0006c0007t0001 | 0/0 | 7824 | 6 | 1 | 0 | 2 | 0 | 3 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0006c0009t0001 | 0/0 | 7824 | 4 | 0 | 2 | 0 | 0 | 2 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0007c0012t0001 | 0/0 | 7824 | 2 | 0 | 0 | 0 | 0 | 2 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0007c0014t0001 | 0/0 | 7824 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0008c0011t0001 | 0/0 | 7824 | 3 | 3 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0009c0010t0001 | 0/0 | 7824 | 3 | 3 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0010c0013t0001 | 0/0 | 7824 | 2 | 0 | 0 | 2 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0011c0026t0001 | 0/0 | 7824 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0012c0025t0001 | 0/0 | 7824 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0013c0023t0001 | 0/0 | 7824 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0014c0022t0001 | 0/0 | 7824 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0015c0021t0001 | 0/0 | 7824 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0016c0024t0001 | 0/0 | 7824 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| a0017c0016t0001 | 0/0 | 7824 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | copy fasta | chr12 | 88044016 | 88147088 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0002 | 0/0 | 4 | 1 | 0 | 3 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0006 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0007 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0010 | 0/0 | 2 | 0 | 1 | 0 | 1 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0012 | 0/1 | 2 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0013 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0096 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0097 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0102 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0104 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0105 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0126 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0130 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0131 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0132 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0134 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0135 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0143 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0144 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0149 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0151 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0155 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0156 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0157 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0159 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0160 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0165 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0167 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0168 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0169 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0172 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0173 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0175 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0179 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0184 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0185 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0189 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0196 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0197 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0198 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0203 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0205 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0206 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0208 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0209 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0210 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0212 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0001t0001g0213 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0003t0001g0004 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0003t0001g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0003t0001g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0003t0001g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0003t0001g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0003t0001g0050 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0003t0001g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0003t0001g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0003t0001g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0003t0001g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0003t0001g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0003t0001g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0003t0001g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0003t0001g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0003t0001g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0003t0001g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0003t0001g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0003t0002g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0003t0003g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0008t0001g0161 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0008t0001g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0008t0001g0163 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0008t0001g0202 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0017t0001g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0018t0001g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0019t0001g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0001c0020t0001g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0002c0002t0001g0005 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0002c0002t0001g0008 | 0/0 | 2 | 0 | 1 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0002c0002t0001g0011 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0002c0002t0001g0091 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0002c0002t0001g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0002c0002t0001g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0002c0002t0001g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0002c0002t0001g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0002c0002t0001g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0002c0002t0001g0115 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0002c0002t0001g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0002c0002t0001g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0002c0002t0001g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0002c0002t0001g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0002c0002t0001g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0002c0002t0001g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0002c0002t0001g0122 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0002c0002t0001g0123 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0002c0002t0001g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0002c0002t0001g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0002c0002t0001g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0002c0002t0001g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0002c0002t0001g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0002c0002t0001g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0002c0002t0001g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0002c0002t0001g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0002c0002t0001g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0002c0002t0001g0214 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0003c0004t0001g0001 | 0/0 | 4 | 4 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0003c0004t0001g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0003c0004t0001g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0003c0004t0001g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0003c0004t0001g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0003c0004t0001g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0003c0004t0001g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0003c0004t0001g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0003c0004t0001g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0003c0004t0001g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0003c0004t0001g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0003c0004t0001g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0003c0004t0001g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0004c0005t0002g0003 | 0/0 | 3 | 2 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0004c0005t0002g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0004c0005t0002g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0004c0005t0002g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0004c0005t0002g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0004c0005t0002g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0004c0005t0002g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0004c0005t0002g0034 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0004c0005t0002g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0004c0005t0002g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0004c0005t0004g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0005c0006t0001g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0005c0006t0001g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0005c0006t0001g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0005c0006t0001g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0005c0006t0001g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0005c0006t0001g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0005c0006t0001g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0005c0006t0001g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0005c0006t0001g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0005c0006t0001g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0005c0006t0001g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0005c0015t0001g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0006c0007t0001g0086 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0006c0007t0001g0087 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0006c0007t0001g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0006c0007t0001g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0006c0007t0001g0127 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0006c0007t0001g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0006c0009t0001g0107 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0006c0009t0001g0108 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0006c0009t0001g0109 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0006c0009t0001g0129 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0007c0012t0001g0053 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0007c0012t0001g0055 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0007c0014t0001g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0008c0011t0001g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0008c0011t0001g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0008c0011t0001g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0009c0010t0001g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0009c0010t0001g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0009c0010t0001g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0010c0013t0001g0009 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0011c0026t0001g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0012c0025t0001g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0013c0023t0001g0177 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0014c0022t0001g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0015c0021t0001g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0016c0024t0001g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| a0017c0016t0001g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0001 | g0135 | EUR | GBR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG00099 | hp2 | a0001 | c0001 | t0001 | g0010 | EUR | GBR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG00597 | hp1 | a0001 | c0001 | t0001 | g0182 | EAS | CHS | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG00597 | hp2 | a0001 | c0001 | t0001 | g0192 | EAS | CHS | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG00609 | hp1 | a0006 | c0007 | t0001 | g0089 | EAS | CHS | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG00609 | hp2 | a0001 | c0001 | t0001 | g0013 | EAS | CHS | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG00639 | hp1 | a0001 | c0001 | t0001 | g0164 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG00639 | hp2 | a0001 | c0001 | t0001 | g0105 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG00642 | hp1 | a0001 | c0001 | t0001 | g0097 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG00642 | hp2 | a0001 | c0001 | t0001 | g0151 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG00735 | hp1 | a0001 | c0001 | t0001 | g0007 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG00735 | hp2 | a0001 | c0001 | t0001 | g0179 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG00741 | hp1 | a0002 | c0002 | t0001 | g0122 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG00741 | hp2 | a0001 | c0001 | t0001 | g0165 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG01071 | hp1 | a0001 | c0001 | t0001 | g0010 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG01071 | hp2 | a0001 | c0003 | t0003 | g0014 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG01074 | hp1 | a0002 | c0002 | t0001 | g0115 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG01074 | hp2 | a0001 | c0008 | t0001 | g0202 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG01081 | hp1 | a0001 | c0001 | t0001 | g0132 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG01081 | hp2 | a0002 | c0002 | t0001 | g0091 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG01099 | hp1 | a0001 | c0001 | t0001 | g0203 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG01099 | hp2 | a0002 | c0002 | t0001 | g0008 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG01106 | hp1 | a0001 | c0001 | t0001 | g0104 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG01106 | hp2 | a0006 | c0009 | t0001 | g0108 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG01109 | hp1 | a0004 | c0005 | t0002 | g0034 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG01109 | hp2 | a0002 | c0002 | t0001 | g0123 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG01175 | hp1 | a0001 | c0001 | t0001 | g0197 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG01175 | hp2 | a0005 | c0006 | t0001 | g0072 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG01192 | hp1 | a0001 | c0001 | t0001 | g0168 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG01192 | hp2 | a0004 | c0005 | t0002 | g0003 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG01243 | hp1 | a0004 | c0005 | t0002 | g0028 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG01243 | hp2 | a0001 | c0001 | t0001 | g0149 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG01255 | hp1 | a0005 | c0006 | t0001 | g0071 | AMR | CLM | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG01255 | hp2 | a0001 | c0001 | t0001 | g0172 | AMR | CLM | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG01884 | hp1 | a0008 | c0011 | t0001 | g0017 | AFR | ACB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG01884 | hp2 | a0001 | c0001 | t0001 | g0030 | AFR | ACB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG01891 | hp1 | a0001 | c0008 | t0001 | g0162 | AFR | ACB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG01891 | hp2 | a0001 | c0003 | t0001 | g0048 | AFR | ACB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG01934 | hp1 | a0013 | c0023 | t0001 | g0177 | AMR | PEL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG01934 | hp2 | a0001 | c0001 | t0001 | g0094 | AMR | PEL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG01978 | hp1 | a0001 | c0001 | t0001 | g0007 | AMR | PEL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG01978 | hp2 | a0001 | c0001 | t0001 | g0173 | AMR | PEL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG01981 | hp1 | a0001 | c0001 | t0001 | g0095 | AMR | PEL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG01981 | hp2 | a0001 | c0001 | t0001 | g0198 | AMR | PEL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02004 | hp1 | a0001 | c0001 | t0001 | g0156 | AMR | PEL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02004 | hp2 | a0006 | c0009 | t0001 | g0107 | AMR | PEL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02055 | hp1 | a0001 | c0003 | t0001 | g0047 | AFR | ACB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02055 | hp2 | a0004 | c0005 | t0002 | g0032 | AFR | ACB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02080 | hp1 | a0017 | c0016 | t0001 | g0088 | EAS | KHV | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02080 | hp2 | a0001 | c0001 | t0001 | g0191 | EAS | KHV | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02135 | hp1 | a0001 | c0001 | t0001 | g0158 | EAS | KHV | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02135 | hp2 | a0001 | c0001 | t0001 | g0193 | EAS | KHV | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02145 | hp1 | a0006 | c0007 | t0001 | g0124 | AFR | ACB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02145 | hp2 | a0001 | c0001 | t0001 | g0142 | AFR | ACB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02155 | hp1 | a0005 | c0006 | t0001 | g0063 | EAS | CDX | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02155 | hp2 | a0001 | c0001 | t0001 | g0145 | EAS | CDX | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02257 | hp1 | a0001 | c0003 | t0001 | g0054 | AFR | ACB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02257 | hp2 | a0009 | c0010 | t0001 | g0024 | AFR | ACB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02258 | hp1 | a0001 | c0003 | t0001 | g0046 | AFR | ACB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02258 | hp2 | a0004 | c0005 | t0002 | g0035 | AFR | ACB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02273 | hp1 | a0001 | c0001 | t0001 | g0157 | AMR | PEL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02273 | hp2 | a0001 | c0001 | t0001 | g0189 | AMR | PEL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02280 | hp1 | a0003 | c0004 | t0001 | g0079 | AFR | ACB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02280 | hp2 | a0001 | c0001 | t0001 | g0212 | AFR | ACB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02293 | hp1 | a0001 | c0003 | t0001 | g0049 | AMR | PEL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02293 | hp2 | a0002 | c0002 | t0001 | g0121 | AMR | PEL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02451 | hp1 | a0001 | c0001 | t0001 | g0037 | AFR | ACB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02451 | hp2 | a0001 | c0001 | t0001 | g0002 | AFR | ACB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02523 | hp1 | a0002 | c0002 | t0001 | g0200 | EAS | KHV | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02523 | hp2 | a0001 | c0001 | t0001 | g0186 | EAS | KHV | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0185 | SAS | PJL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02602 | hp2 | a0001 | c0001 | t0001 | g0184 | SAS | PJL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02615 | hp1 | a0001 | c0001 | t0001 | g0154 | AFR | GWD | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02615 | hp2 | a0003 | c0004 | t0001 | g0078 | AFR | GWD | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02630 | hp1 | a0001 | c0001 | t0001 | g0022 | AFR | GWD | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02630 | hp2 | a0003 | c0004 | t0001 | g0044 | AFR | GWD | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02647 | hp1 | a0008 | c0011 | t0001 | g0019 | AFR | GWD | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02647 | hp2 | a0001 | c0001 | t0001 | g0076 | AFR | GWD | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02683 | hp1 | a0006 | c0009 | t0001 | g0129 | SAS | PJL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02683 | hp2 | a0001 | c0001 | t0001 | g0155 | SAS | PJL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02698 | hp1 | a0006 | c0007 | t0001 | g0086 | SAS | PJL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02698 | hp2 | a0001 | c0001 | t0001 | g0143 | SAS | PJL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02717 | hp1 | a0003 | c0004 | t0001 | g0042 | AFR | GWD | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02717 | hp2 | a0001 | c0001 | t0001 | g0148 | AFR | GWD | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02723 | hp1 | a0003 | c0004 | t0001 | g0001 | AFR | GWD | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02723 | hp2 | a0001 | c0001 | t0001 | g0006 | AFR | GWD | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02735 | hp1 | a0001 | c0001 | t0001 | g0130 | SAS | PJL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02735 | hp2 | a0001 | c0001 | t0001 | g0131 | SAS | PJL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02818 | hp1 | a0001 | c0001 | t0001 | g0209 | AFR | GWD | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02818 | hp2 | a0001 | c0003 | t0001 | g0051 | AFR | GWD | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02886 | hp1 | a0001 | c0001 | t0001 | g0211 | AFR | GWD | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02886 | hp2 | a0005 | c0006 | t0001 | g0070 | AFR | GWD | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02895 | hp1 | a0015 | c0021 | t0001 | g0020 | AFR | GWD | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02895 | hp2 | a0003 | c0004 | t0001 | g0077 | AFR | GWD | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02896 | hp1 | a0003 | c0004 | t0001 | g0083 | AFR | GWD | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02896 | hp2 | a0004 | c0005 | t0002 | g0033 | AFR | GWD | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02922 | hp1 | a0001 | c0003 | t0001 | g0004 | AFR | ESN | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02922 | hp2 | a0001 | c0001 | t0001 | g0039 | AFR | ESN | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02970 | hp1 | a0001 | c0001 | t0001 | g0153 | AFR | ESN | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02970 | hp2 | a0004 | c0005 | t0002 | g0003 | AFR | ESN | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02976 | hp1 | a0003 | c0004 | t0001 | g0081 | AFR | ESN | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02976 | hp2 | a0001 | c0001 | t0001 | g0152 | AFR | ESN | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG03041 | hp1 | a0003 | c0004 | t0001 | g0082 | AFR | GWD | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG03041 | hp2 | a0009 | c0010 | t0001 | g0025 | AFR | GWD | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG03098 | hp1 | a0001 | c0003 | t0001 | g0215 | AFR | MSL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG03098 | hp2 | a0001 | c0001 | t0001 | g0026 | AFR | MSL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG03139 | hp1 | a0001 | c0001 | t0001 | g0195 | AFR | ESN | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG03139 | hp2 | a0003 | c0004 | t0001 | g0043 | AFR | ESN | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG03195 | hp1 | a0001 | c0001 | t0001 | g0038 | AFR | ESN | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG03195 | hp2 | a0003 | c0004 | t0001 | g0040 | AFR | ESN | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG03209 | hp1 | a0001 | c0003 | t0001 | g0058 | AFR | MSL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG03209 | hp2 | a0001 | c0003 | t0002 | g0073 | AFR | MSL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG03225 | hp1 | a0003 | c0004 | t0001 | g0080 | AFR | MSL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG03225 | hp2 | a0008 | c0011 | t0001 | g0018 | AFR | MSL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG03239 | hp1 | a0001 | c0001 | t0001 | g0169 | SAS | PJL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG03239 | hp2 | a0001 | c0001 | t0001 | g0206 | SAS | PJL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG03453 | hp1 | a0003 | c0004 | t0001 | g0001 | AFR | MSL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG03453 | hp2 | a0001 | c0017 | t0001 | g0015 | AFR | MSL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG03516 | hp1 | a0001 | c0003 | t0001 | g0075 | AFR | ESN | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG03516 | hp2 | a0014 | c0022 | t0001 | g0098 | AFR | ESN | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG03540 | hp1 | a0001 | c0003 | t0001 | g0059 | AFR | GWD | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG03540 | hp2 | a0009 | c0010 | t0001 | g0023 | AFR | GWD | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG03579 | hp1 | a0004 | c0005 | t0002 | g0021 | AFR | MSL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG03579 | hp2 | a0004 | c0005 | t0004 | g0216 | AFR | MSL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG03704 | hp1 | a0001 | c0001 | t0001 | g0167 | SAS | PJL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG03704 | hp2 | a0001 | c0001 | t0001 | g0160 | SAS | PJL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG03710 | hp1 | a0001 | c0001 | t0001 | g0196 | SAS | PJL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG03710 | hp2 | a0006 | c0007 | t0001 | g0087 | SAS | PJL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG03834 | hp1 | a0001 | c0001 | t0001 | g0208 | SAS | BEB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG03834 | hp2 | a0001 | c0001 | t0001 | g0134 | SAS | BEB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG04115 | hp1 | a0001 | c0001 | t0001 | g0102 | SAS | STU | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG04115 | hp2 | a0001 | c0001 | t0001 | g0096 | SAS | STU | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG04184 | hp1 | a0006 | c0009 | t0001 | g0109 | SAS | BEB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG04184 | hp2 | a0002 | c0002 | t0001 | g0214 | SAS | BEB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG04199 | hp1 | a0001 | c0001 | t0001 | g0126 | SAS | STU | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG04199 | hp2 | a0001 | c0008 | t0001 | g0161 | SAS | STU | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG04204 | hp1 | a0006 | c0007 | t0001 | g0127 | SAS | STU | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG04204 | hp2 | a0001 | c0008 | t0001 | g0163 | SAS | STU | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG04228 | hp1 | a0007 | c0012 | t0001 | g0055 | SAS | STU | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG04228 | hp2 | a0001 | c0001 | t0001 | g0205 | SAS | STU | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA18522 | hp1 | a0001 | c0001 | t0001 | g0029 | AFR | YRI | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA18522 | hp2 | a0003 | c0004 | t0001 | g0001 | AFR | YRI | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0190 | EAS | CHB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA18612 | hp2 | a0005 | c0006 | t0001 | g0064 | EAS | CHB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA18747 | hp1 | a0002 | c0002 | t0001 | g0119 | EAS | CHB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA18747 | hp2 | a0001 | c0001 | t0001 | g0012 | EAS | CHB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA18906 | hp1 | a0001 | c0020 | t0001 | g0052 | AFR | YRI | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA18906 | hp2 | a0003 | c0004 | t0001 | g0041 | AFR | YRI | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA18942 | hp1 | a0001 | c0001 | t0001 | g0207 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA18942 | hp2 | a0002 | c0002 | t0001 | g0111 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA18947 | hp1 | a0007 | c0014 | t0001 | g0045 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA18947 | hp2 | a0001 | c0001 | t0001 | g0171 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA18948 | hp1 | a0001 | c0001 | t0001 | g0187 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA18948 | hp2 | a0002 | c0002 | t0001 | g0117 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA18949 | hp1 | a0002 | c0002 | t0001 | g0118 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA18949 | hp2 | a0005 | c0006 | t0001 | g0066 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA18951 | hp1 | a0002 | c0002 | t0001 | g0110 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA18951 | hp2 | a0001 | c0001 | t0001 | g0180 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA18957 | hp1 | a0006 | c0007 | t0001 | g0128 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA18957 | hp2 | a0002 | c0002 | t0001 | g0011 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA18965 | hp1 | a0002 | c0002 | t0001 | g0120 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA18965 | hp2 | a0001 | c0001 | t0001 | g0178 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA18968 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA18968 | hp2 | a0002 | c0002 | t0001 | g0114 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA18970 | hp1 | a0016 | c0024 | t0001 | g0101 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA18970 | hp2 | a0002 | c0002 | t0001 | g0112 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA18975 | hp1 | a0002 | c0002 | t0001 | g0188 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA18975 | hp2 | a0001 | c0001 | t0001 | g0138 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA18978 | hp1 | a0002 | c0002 | t0001 | g0141 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA18978 | hp2 | a0001 | c0001 | t0001 | g0133 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA18981 | hp1 | a0001 | c0001 | t0001 | g0100 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA18981 | hp2 | a0010 | c0013 | t0001 | g0009 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA18982 | hp1 | a0002 | c0002 | t0001 | g0140 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA18982 | hp2 | a0001 | c0001 | t0001 | g0176 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA18984 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA18984 | hp2 | a0002 | c0002 | t0001 | g0116 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA18990 | hp1 | a0002 | c0002 | t0001 | g0125 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA18990 | hp2 | a0001 | c0001 | t0001 | g0181 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA19000 | hp1 | a0002 | c0002 | t0001 | g0005 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA19000 | hp2 | a0001 | c0001 | t0001 | g0150 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA19004 | hp1 | a0005 | c0006 | t0001 | g0068 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA19004 | hp2 | a0002 | c0002 | t0001 | g0113 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA19005 | hp1 | a0001 | c0001 | t0001 | g0194 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA19005 | hp2 | a0002 | c0002 | t0001 | g0008 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA19009 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA19009 | hp2 | a0011 | c0026 | t0001 | g0090 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA19011 | hp1 | a0002 | c0002 | t0001 | g0199 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA19011 | hp2 | a0001 | c0001 | t0001 | g0183 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA19030 | hp1 | a0001 | c0003 | t0001 | g0060 | AFR | LWK | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA19030 | hp2 | a0001 | c0001 | t0001 | g0099 | AFR | LWK | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA19043 | hp1 | a0003 | c0004 | t0001 | g0001 | AFR | LWK | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA19043 | hp2 | a0001 | c0001 | t0001 | g0103 | AFR | LWK | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA19058 | hp1 | a0005 | c0006 | t0001 | g0065 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA19058 | hp2 | a0001 | c0001 | t0001 | g0146 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA19068 | hp1 | a0002 | c0002 | t0001 | g0139 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA19068 | hp2 | a0001 | c0001 | t0001 | g0170 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA19077 | hp1 | a0010 | c0013 | t0001 | g0009 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA19077 | hp2 | a0001 | c0001 | t0001 | g0147 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA19079 | hp1 | a0002 | c0002 | t0001 | g0011 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA19079 | hp2 | a0001 | c0001 | t0001 | g0013 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA19082 | hp1 | a0002 | c0002 | t0001 | g0201 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA19082 | hp2 | a0001 | c0001 | t0001 | g0137 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA19083 | hp1 | a0005 | c0006 | t0001 | g0069 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA19083 | hp2 | a0002 | c0002 | t0001 | g0005 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA19089 | hp1 | a0002 | c0002 | t0001 | g0136 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA19089 | hp2 | a0001 | c0001 | t0001 | g0166 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA19091 | hp1 | a0001 | c0001 | t0001 | g0204 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA19091 | hp2 | a0005 | c0015 | t0001 | g0061 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA19240 | hp1 | a0001 | c0003 | t0001 | g0084 | AFR | YRI | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA19240 | hp2 | a0001 | c0003 | t0001 | g0057 | AFR | YRI | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA20129 | hp1 | a0001 | c0003 | t0001 | g0056 | AFR | ASW | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA20129 | hp2 | a0004 | c0005 | t0002 | g0031 | AFR | ASW | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA20805 | hp1 | a0001 | c0001 | t0001 | g0159 | EUR | TSI | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA20805 | hp2 | a0001 | c0001 | t0001 | g0213 | EUR | TSI | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA20905 | hp1 | a0001 | c0001 | t0001 | g0144 | SAS | GIH | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA20905 | hp2 | a0007 | c0012 | t0001 | g0053 | SAS | GIH | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02109 | hp1 | a0004 | c0005 | t0002 | g0036 | AFR | ACB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02109 | hp2 | a0001 | c0001 | t0001 | g0092 | AFR | ACB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02486 | hp1 | a0001 | c0001 | t0001 | g0210 | AFR | ACB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02486 | hp2 | a0001 | c0003 | t0001 | g0074 | AFR | ACB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02559 | hp1 | a0001 | c0001 | t0001 | g0006 | AFR | ACB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG02559 | hp2 | a0001 | c0018 | t0001 | g0016 | AFR | ACB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG03471 | hp1 | a0001 | c0001 | t0001 | g0093 | AFR | MSL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG03471 | hp2 | a0001 | c0019 | t0001 | g0085 | AFR | MSL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG06807 | hp1 | a0005 | c0006 | t0001 | g0062 | AFR | USA | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| HG06807 | hp2 | a0012 | c0025 | t0001 | g0106 | AFR | USA | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA18955 | hp1 | a0001 | c0001 | t0001 | g0174 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA18955 | hp2 | a0005 | c0006 | t0001 | g0067 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA20300 | hp1 | a0001 | c0001 | t0001 | g0175 | AFR | USA | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA20300 | hp2 | a0004 | c0005 | t0002 | g0027 | AFR | USA | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA21309 | hp1 | a0004 | c0005 | t0002 | g0003 | AFR | LWK | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| NA21309 | hp2 | a0001 | c0003 | t0001 | g0004 | AFR | LWK | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0001 | g0012 | REF | REF | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| homoSapiens_grch38 | hp1 | a0001 | c0003 | t0001 | g0050 | REF | REF | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12:88055617
|
C | T | 1 | a0015 | 1 | HG02895.hp1 | missense_variant | MODERATE | c.6919G>A | p.Glu2307Lys | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 50/54 | 7135/7824 | 6919/7440 | 2307/2479 | chr12 | 88055617 | ||
| chr12:88071860
|
G | A | 1 | a0011 | 1 | NA19009.hp2 | stop_gained | HIGH | c.5776C>T | p.Arg1926* | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 42/54 | 5992/7824 | 5776/7440 | 1926/2479 | chr12 | 88071860 | ||
| chr12:88079219
|
C | T | 1 | a0007 | 3 | HG04228.hp1 NA18947.hp1 NA20905.hp2 |
missense_variant | MODERATE | c.5237G>A | p.Arg1746Gln | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 39/54 | 5453/7824 | 5237/7440 | 1746/2479 | chr12 | 88079219 | ||
| chr12:88089271
|
G | A | 1 | a0014 | 1 | HG03516.hp2 | missense_variant | MODERATE | c.3790C>T | p.Arg1264Cys | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 31/54 | 4006/7824 | 3790/7440 | 1264/2479 | chr12 | 88089271 | ||
| chr12:88089304
|
G | A | 1 | a0013 | 1 | HG01934.hp1 | missense_variant | MODERATE | c.3757C>T | p.Arg1253Cys | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 31/54 | 3973/7824 | 3757/7440 | 1253/2479 | chr12 | 88089304 | ||
| chr12:88089351
|
C | T | 1 | a0004 | 13 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(10): Show |
missense_variant | MODERATE | c.3710G>A | p.Arg1237His | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 31/54 | 3926/7824 | 3710/7440 | 1237/2479 | chr12 | 88089351 | ||
| chr12:88102849
|
C | T | 1 | a0012 | 1 | HG06807.hp2 | missense_variant | MODERATE | c.2980G>A | p.Glu994Lys | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/54 | 3196/7824 | 2980/7440 | 994/2479 | chr12 | 88102849 | ||
| chr12:88103002
|
T | C | 2 | a0008a0015 | 4 | HG01884.hp1 HG02647.hp1 HG02895.hp1 others(1): Show |
missense_variant | MODERATE | c.2827A>G | p.Ile943Val | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/54 | 3043/7824 | 2827/7440 | 943/2479 | chr12 | 88103002 | ||
| chr12:88106775
|
A | C | 1 | a0003 | 16 | HG02280.hp1 HG02615.hp2 HG02630.hp2 others(13): Show |
missense_variant | MODERATE | c.2717T>G | p.Leu906Trp | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/54 | 2933/7824 | 2717/7440 | 906/2479 | chr12 | 88106775 | ||
| chr12:88106854
|
C | A | 1 | a0016 | 1 | NA18970.hp1 | missense_variant | MODERATE | c.2638G>T | p.Ala880Ser | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/54 | 2854/7824 | 2638/7440 | 880/2479 | chr12 | 88106854 | ||
| chr12:88107070
|
T | C | 6 | a0002a0006a0010others(3): Show | 46 | HG00609.hp1 HG00741.hp1 HG01074.hp1 others(43): Show |
missense_variant | MODERATE | c.2512A>G | p.Lys838Glu | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 24/54 | 2728/7824 | 2512/7440 | 838/2479 | chr12 | 88107070 | ||
| chr12:88114481
|
T | C | 2 | a0002a0010 | 33 | HG00741.hp1 HG01074.hp1 HG01081.hp2 others(30): Show |
missense_variant | MODERATE | c.1991A>G | p.Asp664Gly | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 20/54 | 2207/7824 | 1991/7440 | 664/2479 | chr12 | 88114481 | ||
| chr12:88118708
|
A | G | 1 | a0009 | 3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
missense_variant | MODERATE | c.1558T>C | p.Phe520Leu | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 16/54 | 1774/7824 | 1558/7440 | 520/2479 | chr12 | 88118708 | ||
| chr12:88121050
|
C | T | 1 | a0017 | 1 | HG02080.hp1 | missense_variant | MODERATE | c.1306G>A | p.Glu436Lys | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 14/54 | 1522/7824 | 1306/7440 | 436/2479 | chr12 | 88121050 | ||
| chr12:88129717
|
C | G | 1 | a0005 | 12 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(9): Show |
missense_variant | MODERATE | c.829G>C | p.Glu277Gln | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 10/54 | 1045/7824 | 829/7440 | 277/2479 | chr12 | 88129717 | ||
| chr12:88136741
|
T | C | 1 | a0010 | 2 | NA18981.hp2 NA19077.hp1 |
missense_variant | MODERATE | c.343A>G | p.Asn115Asp | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/54 | 559/7824 | 343/7440 | 115/2479 | chr12 | 88136741 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12:88059000
|
T | C | 1 | a0005c0015 | 1 | NA19091.hp2 | synonymous_variant | LOW | c.6666A>G | p.Lys2222Lys | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 49/54 | 6882/7824 | 6666/7440 | 2222/2479 | chr12 | 88059000 | ||
| chr12:88060875
|
A | T | 1 | a0001c0019 | 1 | HG03471.hp2 | synonymous_variant | LOW | c.6477T>A | p.Thr2159Thr | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 47/54 | 6693/7824 | 6477/7440 | 2159/2479 | chr12 | 88060875 | ||
| chr12:88080209
|
T | C | 2 | a0008c0011a0015c0021 | 4 | HG01884.hp1 HG02647.hp1 HG02895.hp1 others(1): Show |
synonymous_variant | LOW | c.5199A>G | p.Gln1733Gln | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 38/54 | 5415/7824 | 5199/7440 | 1733/2479 | chr12 | 88080209 | ||
| chr12:88086159
|
T | G | 1 | a0001c0020 | 1 | NA18906.hp1 | synonymous_variant | LOW | c.4317A>C | p.Thr1439Thr | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 34/54 | 4533/7824 | 4317/7440 | 1439/2479 | chr12 | 88086159 | ||
| chr12:88087792
|
C | T | 1 | a0001c0017 | 1 | HG03453.hp2 | synonymous_variant | LOW | c.4182G>A | p.Val1394Val | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/54 | 4398/7824 | 4182/7440 | 1394/2479 | chr12 | 88087792 | ||
| chr12:88087855
|
T | C | 2 | a0006c0009a0012c0025 | 5 | HG01106.hp2 HG02004.hp2 HG02683.hp1 others(2): Show |
synonymous_variant | LOW | c.4119A>G | p.Lys1373Lys | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/54 | 4335/7824 | 4119/7440 | 1373/2479 | chr12 | 88087855 | ||
| chr12:88090836
|
C | T | 4 | a0001c0017a0001c0018a0008c0011others(1): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
synonymous_variant | LOW | c.3465G>A | p.Leu1155Leu | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 30/54 | 3681/7824 | 3465/7440 | 1155/2479 | chr12 | 88090836 | ||
| chr12:88111301
|
T | C | 12 | a0001c0001a0001c0008a0002c0002others(9): Show | 159 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(156): Show |
synonymous_variant | LOW | c.2268A>G | p.Ser756Ser | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 22/54 | 2484/7824 | 2268/7440 | 756/2479 | chr12 | 88111301 | ||
| chr12:88111856
|
A | G | 1 | a0001c0008 | 4 | HG01074.hp2 HG01891.hp1 HG04199.hp2 others(1): Show |
splice_region_variant&synonymous_variant | LOW | c.2055T>C | p.Ala685Ala | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 21/54 | 2271/7824 | 2055/7440 | 685/2479 | chr12 | 88111856 | ||
| chr12:88136700
|
A | G | 1 | a0007c0014 | 1 | NA18947.hp1 | synonymous_variant | LOW | c.384T>C | p.Asp128Asp | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/54 | 600/7824 | 384/7440 | 128/2479 | chr12 | 88136700 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12:88049161
|
GAAAC | G | 3 | a0001c0003t0002a0004c0005t0002a0004c0005t0004 | 14 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(11): Show |
3_prime_UTR_variant | MODIFIER | c.*19_*22delGTTT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 54/54 | 19 | chr12 | 88049161 | |||||
| chr12:88141968
|
G | A | 1 | a0004c0005t0004 | 1 | HG03579.hp2 | 5_prime_UTR_variant | MODIFIER | c.-96C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 1/54 | 661 | chr12 | 88141968 | |||||
| chr12:88142008
|
G | T | 1 | a0001c0003t0003 | 1 | HG01071.hp2 | 5_prime_UTR_variant | MODIFIER | c.-136C>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 1/54 | 701 | chr12 | 88142008 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12:88049436
|
A | G | 12 | a0005c0006t0001g0062a0005c0006t0001g0063a0005c0006t0001g0064others(9): Show | 12 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(9): Show |
intron_variant | MODIFIER | c.7210-22T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 53/53 | chr12 | 88049436 | ||||||
| chr12:88049564
|
G | T | 2 | a0001c0003t0001g0058a0001c0003t0001g0059 | 2 | HG03209.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.7210-150C>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 53/53 | chr12 | 88049564 | ||||||
| chr12:88049717
|
A | C | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.7210-303T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 53/53 | chr12 | 88049717 | ||||||
| chr12:88049810
|
CTA | C | 12 | a0001c0003t0002g0073a0004c0005t0002g0003a0004c0005t0002g0021others(9): Show | 14 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.7210-398_7210-397d others(4): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 53/53 | chr12 | 88049810 | ||||||
| chr12:88049864
|
G | A | 1 | a0005c0006t0001g0070 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.7210-450C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 53/53 | chr12 | 88049864 | ||||||
| chr12:88050154
|
A | C | 1 | a0003c0004t0001g0044 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.7209+200T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 53/53 | chr12 | 88050154 | ||||||
| chr12:88050277
|
GTAGT | G | 3 | a0001c0001t0001g0149a0001c0001t0001g0157a0001c0001t0001g0172 | 3 | HG01243.hp2 HG01255.hp2 HG02273.hp1 |
intron_variant | MODIFIER | c.7209+73_7209+76del others(4): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 53/53 | chr12 | 88050277 | ||||||
| chr12:88050506
|
C | T | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.7130-73G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88050506 | ||||||
| chr12:88050562
|
T | C | 8 | a0004c0005t0002g0003a0004c0005t0002g0027a0004c0005t0002g0028others(5): Show | 10 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(7): Show |
intron_variant | MODIFIER | c.7130-129A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88050562 | ||||||
| chr12:88050650
|
C | G | 1 | a0001c0003t0001g0048 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.7130-217G>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88050650 | ||||||
| chr12:88050783
|
G | A | 146 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(143): Show | 158 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(155): Show |
intron_variant | MODIFIER | c.7130-350C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88050783 | ||||||
| chr12:88050815
|
G | A | 76 | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0013others(73): Show | 81 | HG00597.hp1 HG00597.hp2 HG00609.hp2 others(78): Show |
intron_variant | MODIFIER | c.7130-382C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88050815 | ||||||
| chr12:88050951
|
C | T | 2 | a0001c0003t0001g0074a0001c0003t0001g0075 | 2 | HG02486.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.7130-518G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88050951 | ||||||
| chr12:88051068
|
A | G | 1 | a0001c0001t0001g0104 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.7130-635T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88051068 | ||||||
| chr12:88051083
|
A | G | 3 | a0009c0010t0001g0023a0009c0010t0001g0024a0009c0010t0001g0025 | 3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.7130-650T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88051083 | ||||||
| chr12:88051192
|
A | G | 2 | a0006c0007t0001g0089a0017c0016t0001g0088 | 2 | HG00609.hp1 HG02080.hp1 |
intron_variant | MODIFIER | c.7130-759T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88051192 | ||||||
| chr12:88051194
|
CT | C | 170 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(167): Show | 184 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(181): Show |
intron_variant | MODIFIER | c.7130-762delA | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88051194 | ||||||
| chr12:88051194
|
CTT | C | 8 | a0001c0001t0001g0131a0001c0001t0001g0149a0001c0001t0001g0157others(5): Show | 8 | HG01243.hp2 HG01255.hp2 HG01978.hp2 others(5): Show |
intron_variant | MODIFIER | c.7130-763_7130-762d others(4): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88051194 | ||||||
| chr12:88051791
|
T | C | 1 | a0001c0001t0001g0146 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.7130-1358A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88051791 | ||||||
| chr12:88051916
|
T | C | 1 | a0001c0003t0001g0047 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.7130-1483A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88051916 | ||||||
| chr12:88052112
|
T | C | 15 | a0001c0003t0001g0074a0001c0003t0001g0075a0001c0003t0001g0215others(12): Show | 15 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(12): Show |
intron_variant | MODIFIER | c.7129+1540A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88052112 | ||||||
| chr12:88052251
|
T | G | 1 | a0001c0003t0001g0215 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.7129+1401A>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88052251 | ||||||
| chr12:88052252
|
A | G | 6 | a0001c0001t0001g0131a0001c0001t0001g0155a0001c0001t0001g0156others(3): Show | 6 | HG01099.hp1 HG02004.hp1 HG02273.hp2 others(3): Show |
intron_variant | MODIFIER | c.7129+1400T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88052252 | ||||||
| chr12:88052297
|
T | A | 2 | a0001c0017t0001g0015a0001c0018t0001g0016 | 2 | HG02559.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.7129+1355A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88052297 | ||||||
| chr12:88052392
|
T | A | 1 | a0002c0002t0001g0125 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.7129+1260A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88052392 | ||||||
| chr12:88052626
|
TGCATATA others(11): Show |
T | 1 | a0001c0003t0001g0215 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.7129+1008_7129+102 others(22): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88052626 | ||||||
| chr12:88052645
|
G | A | 146 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(143): Show | 158 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(155): Show |
intron_variant | MODIFIER | c.7129+1007C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88052645 | ||||||
| chr12:88053082
|
A | G | 1 | a0001c0001t0001g0134 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.7129+570T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88053082 | ||||||
| chr12:88053495
|
A | G | 3 | a0009c0010t0001g0023a0009c0010t0001g0024a0009c0010t0001g0025 | 3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.7129+157T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88053495 | ||||||
| chr12:88053547
|
T | C | 2 | a0001c0003t0001g0048a0001c0003t0001g0054 | 2 | HG01891.hp2 HG02257.hp1 |
intron_variant | MODIFIER | c.7129+105A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88053547 | ||||||
| chr12:88053575
|
AG | A | 3 | a0009c0010t0001g0023a0009c0010t0001g0024a0009c0010t0001g0025 | 3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.7129+76delC | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88053575 | ||||||
| chr12:88053578
|
CA | C | 15 | a0001c0001t0001g0099a0001c0017t0001g0015a0001c0018t0001g0016others(12): Show | 15 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(12): Show |
intron_variant | MODIFIER | c.7129+73delT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88053578 | ||||||
| chr12:88053579
|
A | C | 3 | a0009c0010t0001g0023a0009c0010t0001g0024a0009c0010t0001g0025 | 3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.7129+73T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88053579 | ||||||
| chr12:88053784
|
G | C | 15 | a0001c0003t0001g0074a0001c0003t0001g0075a0001c0003t0001g0215others(12): Show | 15 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(12): Show |
intron_variant | MODIFIER | c.7035-38C>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 51/53 | chr12 | 88053784 | ||||||
| chr12:88053928
|
C | T | 2 | a0001c0001t0001g0029a0001c0001t0001g0030 | 2 | HG01884.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.7035-182G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 51/53 | chr12 | 88053928 | ||||||
| chr12:88053934
|
C | T | 1 | a0001c0001t0001g0096 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.7035-188G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 51/53 | chr12 | 88053934 | ||||||
| chr12:88053962
|
A | G | 1 | a0001c0001t0001g0100 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.7035-216T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 51/53 | chr12 | 88053962 | ||||||
| chr12:88054065
|
C | T | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.7034+275G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 51/53 | chr12 | 88054065 | ||||||
| chr12:88054068
|
G | T | 12 | a0001c0003t0002g0073a0004c0005t0002g0003a0004c0005t0002g0021others(9): Show | 14 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.7034+272C>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 51/53 | chr12 | 88054068 | ||||||
| chr12:88054141
|
G | A | 1 | a0002c0002t0001g0214 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.7034+199C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 51/53 | chr12 | 88054141 | ||||||
| chr12:88054289
|
A | AT | 15 | a0001c0003t0001g0074a0001c0003t0001g0075a0001c0003t0001g0215others(12): Show | 15 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(12): Show |
intron_variant | MODIFIER | c.7034+50dupA | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 51/53 | chr12 | 88054289 | ||||||
| chr12:88054551
|
T | A | 19 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0010others(16): Show | 22 | HG00099.hp2 HG00639.hp2 HG00642.hp1 others(19): Show |
intron_variant | MODIFIER | c.6961-138A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 50/53 | chr12 | 88054551 | ||||||
| chr12:88054728
|
G | A | 1 | a0001c0003t0001g0054 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.6961-315C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 50/53 | chr12 | 88054728 | ||||||
| chr12:88054933
|
C | T | 5 | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0130others(2): Show | 7 | HG00099.hp2 HG00735.hp1 HG01071.hp1 others(4): Show |
intron_variant | MODIFIER | c.6961-520G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 50/53 | chr12 | 88054933 | ||||||
| chr12:88055319
|
A | G | 200 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(197): Show | 217 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(214): Show |
intron_variant | MODIFIER | c.6960+257T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 50/53 | chr12 | 88055319 | ||||||
| chr12:88055333
|
A | T | 1 | a0007c0012t0001g0053 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.6960+243T>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 50/53 | chr12 | 88055333 | ||||||
| chr12:88055409
|
C | T | 1 | a0002c0002t0001g0116 | 1 | NA18984.hp2 | intron_variant | MODIFIER | c.6960+167G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 50/53 | chr12 | 88055409 | ||||||
| chr12:88055512
|
T | C | 12 | a0001c0003t0002g0073a0004c0005t0002g0003a0004c0005t0002g0021others(9): Show | 14 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.6960+64A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 50/53 | chr12 | 88055512 | ||||||
| chr12:88055566
|
C | T | 1 | a0001c0003t0001g0215 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.6960+10G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 50/53 | chr12 | 88055566 | ||||||
| chr12:88056231
|
T | C | 3 | a0001c0001t0001g0093a0001c0001t0001g0105a0014c0022t0001g0098 | 3 | HG00639.hp2 HG03471.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.6819-514A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 49/53 | chr12 | 88056231 | ||||||
| chr12:88056685
|
T | A | 71 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0010others(68): Show | 78 | HG00099.hp1 HG00099.hp2 HG00609.hp2 others(75): Show |
intron_variant | MODIFIER | c.6819-968A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 49/53 | chr12 | 88056685 | ||||||
| chr12:88056792
|
A | T | 1 | a0002c0002t0001g0200 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.6819-1075T>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 49/53 | chr12 | 88056792 | ||||||
| chr12:88056836
|
GTA | G | 2 | a0001c0017t0001g0015a0001c0018t0001g0016 | 2 | HG02559.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.6819-1121_6819-112 others(6): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 49/53 | chr12 | 88056836 | ||||||
| chr12:88056941
|
C | A | 1 | a0002c0002t0001g0214 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.6819-1224G>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 49/53 | chr12 | 88056941 | ||||||
| chr12:88056965
|
A | C | 2 | a0001c0001t0001g0133a0007c0014t0001g0045 | 2 | NA18947.hp1 NA18978.hp2 |
intron_variant | MODIFIER | c.6819-1248T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 49/53 | chr12 | 88056965 | ||||||
| chr12:88057052
|
G | A | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.6819-1335C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 49/53 | chr12 | 88057052 | ||||||
| chr12:88057237
|
A | G | 1 | a0005c0006t0001g0064 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.6819-1520T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 49/53 | chr12 | 88057237 | ||||||
| chr12:88057504
|
A | C | 2 | a0001c0003t0001g0074a0001c0003t0001g0075 | 2 | HG02486.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.6818+1344T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 49/53 | chr12 | 88057504 | ||||||
| chr12:88057515
|
G | A | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.6818+1333C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 49/53 | chr12 | 88057515 | ||||||
| chr12:88057538
|
T | G | 3 | a0009c0010t0001g0023a0009c0010t0001g0024a0009c0010t0001g0025 | 3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.6818+1310A>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 49/53 | chr12 | 88057538 | ||||||
| chr12:88057601
|
T | G | 2 | a0001c0001t0001g0096a0001c0001t0001g0126 | 2 | HG04115.hp2 HG04199.hp1 |
intron_variant | MODIFIER | c.6818+1247A>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 49/53 | chr12 | 88057601 | ||||||
| chr12:88057838
|
T | C | 5 | a0001c0001t0001g0184a0001c0008t0001g0161a0001c0008t0001g0162others(2): Show | 5 | HG01074.hp2 HG01891.hp1 HG02602.hp2 others(2): Show |
intron_variant | MODIFIER | c.6818+1010A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 49/53 | chr12 | 88057838 | ||||||
| chr12:88057846
|
A | G | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.6818+1002T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 49/53 | chr12 | 88057846 | ||||||
| chr12:88057916
|
G | A | 3 | a0001c0001t0001g0209a0001c0001t0001g0210a0001c0001t0001g0211 | 3 | HG02486.hp1 HG02818.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.6818+932C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 49/53 | chr12 | 88057916 | ||||||
| chr12:88057920
|
A | G | 1 | a0001c0001t0001g0100 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.6818+928T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 49/53 | chr12 | 88057920 | ||||||
| chr12:88058636
|
G | C | 2 | a0001c0017t0001g0015a0001c0018t0001g0016 | 2 | HG02559.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.6818+212C>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 49/53 | chr12 | 88058636 | ||||||
| chr12:88059036
|
A | G | 2 | a0001c0017t0001g0015a0001c0018t0001g0016 | 2 | HG02559.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.6646-16T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 48/53 | chr12 | 88059036 | ||||||
| chr12:88059295
|
A | G | 12 | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0094others(9): Show | 14 | HG00099.hp2 HG00642.hp1 HG00735.hp1 others(11): Show |
intron_variant | MODIFIER | c.6646-275T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 48/53 | chr12 | 88059295 | ||||||
| chr12:88059394
|
C | T | 182 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(179): Show | 196 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(193): Show |
intron_variant | MODIFIER | c.6646-374G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 48/53 | chr12 | 88059394 | ||||||
| chr12:88059629
|
G | C | 1 | a0001c0001t0001g0126 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.6645+269C>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 48/53 | chr12 | 88059629 | ||||||
| chr12:88059687
|
G | A | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.6645+211C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 48/53 | chr12 | 88059687 | ||||||
| chr12:88059714
|
A | T | 5 | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0130others(2): Show | 7 | HG00099.hp2 HG00735.hp1 HG01071.hp1 others(4): Show |
intron_variant | MODIFIER | c.6645+184T>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 48/53 | chr12 | 88059714 | ||||||
| chr12:88059831
|
C | T | 200 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(197): Show | 217 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(214): Show |
intron_variant | MODIFIER | c.6645+67G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 48/53 | chr12 | 88059831 | ||||||
| chr12:88060085
|
T | C | 1 | a0001c0020t0001g0052 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.6523-65A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 47/53 | chr12 | 88060085 | ||||||
| chr12:88060375
|
T | C | 13 | a0001c0001t0001g0144a0001c0001t0001g0149a0001c0001t0001g0151others(10): Show | 13 | HG00642.hp2 HG01074.hp2 HG01243.hp2 others(10): Show |
intron_variant | MODIFIER | c.6523-355A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 47/53 | chr12 | 88060375 | ||||||
| chr12:88060388
|
T | A | 3 | a0009c0010t0001g0023a0009c0010t0001g0024a0009c0010t0001g0025 | 3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.6523-368A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 47/53 | chr12 | 88060388 | ||||||
| chr12:88060516
|
C | G | 1 | a0001c0001t0001g0137 | 1 | NA19082.hp2 | intron_variant | MODIFIER | c.6522+314G>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 47/53 | chr12 | 88060516 | ||||||
| chr12:88060618
|
A | G | 2 | a0001c0001t0001g0156a0001c0001t0001g0189 | 2 | HG02004.hp1 HG02273.hp2 |
intron_variant | MODIFIER | c.6522+212T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 47/53 | chr12 | 88060618 | ||||||
| chr12:88060751
|
T | C | 1 | a0005c0006t0001g0064 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.6522+79A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 47/53 | chr12 | 88060751 | ||||||
| chr12:88060788
|
G | A | 4 | a0005c0006t0001g0065a0005c0006t0001g0066a0005c0006t0001g0069others(1): Show | 4 | NA18949.hp2 NA19058.hp1 NA19083.hp1 others(1): Show |
intron_variant | MODIFIER | c.6522+42C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 47/53 | chr12 | 88060788 | ||||||
| chr12:88060817
|
T | TA | 146 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(143): Show | 158 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(155): Show |
intron_variant | MODIFIER | c.6522+12dupT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 47/53 | chr12 | 88060817 | ||||||
| chr12:88061285
|
G | T | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.6358-291C>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 46/53 | chr12 | 88061285 | ||||||
| chr12:88061612
|
TTTAG | T | 5 | a0003c0004t0001g0001a0003c0004t0001g0041a0003c0004t0001g0042others(2): Show | 8 | HG02630.hp2 HG02717.hp1 HG02723.hp1 others(5): Show |
intron_variant | MODIFIER | c.6358-622_6358-619d others(6): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 46/53 | chr12 | 88061612 | ||||||
| chr12:88061787
|
T | G | 12 | a0001c0003t0002g0073a0004c0005t0002g0003a0004c0005t0002g0021others(9): Show | 14 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.6358-793A>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 46/53 | chr12 | 88061787 | ||||||
| chr12:88061792
|
T | C | 7 | a0001c0001t0001g0026a0001c0001t0001g0029a0001c0001t0001g0030others(4): Show | 7 | HG01884.hp2 HG02451.hp1 HG02647.hp2 others(4): Show |
intron_variant | MODIFIER | c.6358-798A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 46/53 | chr12 | 88061792 | ||||||
| chr12:88061818
|
G | A | 2 | a0002c0002t0001g0111a0002c0002t0001g0113 | 2 | NA18942.hp2 NA19004.hp2 |
intron_variant | MODIFIER | c.6358-824C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 46/53 | chr12 | 88061818 | ||||||
| chr12:88061978
|
C | T | 1 | a0008c0011t0001g0018 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.6357+714G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 46/53 | chr12 | 88061978 | ||||||
| chr12:88062025
|
C | T | 12 | a0005c0006t0001g0062a0005c0006t0001g0063a0005c0006t0001g0064others(9): Show | 12 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(9): Show |
intron_variant | MODIFIER | c.6357+667G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 46/53 | chr12 | 88062025 | ||||||
| chr12:88062397
|
G | A | 1 | a0001c0003t0001g0074 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.6357+295C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 46/53 | chr12 | 88062397 | ||||||
| chr12:88062533
|
T | C | 1 | a0001c0003t0001g0060 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.6357+159A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 46/53 | chr12 | 88062533 | ||||||
| chr12:88062672
|
T | A | 12 | a0001c0003t0002g0073a0004c0005t0002g0003a0004c0005t0002g0021others(9): Show | 14 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.6357+20A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 46/53 | chr12 | 88062672 | ||||||
| chr12:88062864
|
A | G | 1 | a0001c0001t0001g0186 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.6271-86T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 45/53 | chr12 | 88062864 | ||||||
| chr12:88062995
|
C | T | 1 | a0003c0004t0001g0079 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.6271-217G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 45/53 | chr12 | 88062995 | ||||||
| chr12:88063003
|
A | G | 1 | a0001c0001t0001g0168 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.6271-225T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 45/53 | chr12 | 88063003 | ||||||
| chr12:88063058
|
C | A | 1 | a0001c0003t0001g0084 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.6271-280G>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 45/53 | chr12 | 88063058 | ||||||
| chr12:88063133
|
A | C | 1 | a0003c0004t0001g0040 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.6271-355T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 45/53 | chr12 | 88063133 | ||||||
| chr12:88063142
|
CA | C | 152 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(149): Show | 164 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(161): Show |
intron_variant | MODIFIER | c.6271-365delT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 45/53 | chr12 | 88063142 | ||||||
| chr12:88063196
|
G | A | 1 | a0001c0001t0001g0193 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.6271-418C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 45/53 | chr12 | 88063196 | ||||||
| chr12:88063232
|
G | A | 1 | a0001c0003t0001g0215 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.6271-454C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 45/53 | chr12 | 88063232 | ||||||
| chr12:88063733
|
A | G | 2 | a0001c0001t0001g0159a0001c0001t0001g0203 | 2 | HG01099.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.6270+248T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 45/53 | chr12 | 88063733 | ||||||
| chr12:88063740
|
C | T | 1 | a0001c0001t0001g0191 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.6270+241G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 45/53 | chr12 | 88063740 | ||||||
| chr12:88064224
|
G | A | 4 | a0008c0011t0001g0017a0008c0011t0001g0018a0008c0011t0001g0019others(1): Show | 4 | HG01884.hp1 HG02647.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.6136-109C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88064224 | ||||||
| chr12:88064238
|
C | T | 3 | a0001c0001t0001g0093a0001c0001t0001g0105a0014c0022t0001g0098 | 3 | HG00639.hp2 HG03471.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.6136-123G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88064238 | ||||||
| chr12:88064239
|
G | A | 1 | a0001c0001t0001g0131 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.6136-124C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88064239 | ||||||
| chr12:88064264
|
T | C | 1 | a0003c0004t0001g0041 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.6136-149A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88064264 | ||||||
| chr12:88064294
|
C | CA | 201 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(198): Show | 218 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(215): Show |
intron_variant | MODIFIER | c.6136-180dupT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88064294 | ||||||
| chr12:88064369
|
C | G | 12 | a0005c0006t0001g0062a0005c0006t0001g0063a0005c0006t0001g0064others(9): Show | 12 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(9): Show |
intron_variant | MODIFIER | c.6136-254G>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88064369 | ||||||
| chr12:88064435
|
C | T | 1 | a0001c0001t0001g0211 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.6136-320G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88064435 | ||||||
| chr12:88064659
|
C | T | 1 | a0006c0007t0001g0087 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.6136-544G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88064659 | ||||||
| chr12:88064788
|
T | C | 30 | a0001c0003t0001g0074a0001c0003t0001g0075a0001c0003t0001g0215others(27): Show | 32 | HG01109.hp1 HG01175.hp2 HG01192.hp2 others(29): Show |
intron_variant | MODIFIER | c.6136-673A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88064788 | ||||||
| chr12:88064919
|
C | T | 147 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(144): Show | 159 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(156): Show |
intron_variant | MODIFIER | c.6136-804G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88064919 | ||||||
| chr12:88065045
|
TC | T | 2 | a0001c0017t0001g0015a0001c0018t0001g0016 | 2 | HG02559.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.6136-931delG | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88065045 | ||||||
| chr12:88065048
|
A | T | 2 | a0001c0017t0001g0015a0001c0018t0001g0016 | 2 | HG02559.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.6136-933T>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88065048 | ||||||
| chr12:88065155
|
A | T | 1 | a0003c0004t0001g0083 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.6136-1040T>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88065155 | ||||||
| chr12:88065339
|
TTTTG | T | 147 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(144): Show | 159 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(156): Show |
intron_variant | MODIFIER | c.6136-1228_6136-122 others(8): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88065339 | ||||||
| chr12:88065377
|
C | A | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.6136-1262G>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88065377 | ||||||
| chr12:88065532
|
T | C | 147 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(144): Show | 159 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(156): Show |
intron_variant | MODIFIER | c.6136-1417A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88065532 | ||||||
| chr12:88065609
|
A | G | 1 | a0012c0025t0001g0106 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.6136-1494T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88065609 | ||||||
| chr12:88065662
|
T | G | 183 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(180): Show | 197 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(194): Show |
intron_variant | MODIFIER | c.6136-1547A>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88065662 | ||||||
| chr12:88065726
|
G | T | 183 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(180): Show | 197 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(194): Show |
intron_variant | MODIFIER | c.6136-1611C>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88065726 | ||||||
| chr12:88065888
|
T | C | 183 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(180): Show | 197 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(194): Show |
intron_variant | MODIFIER | c.6136-1773A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88065888 | ||||||
| chr12:88065998
|
T | C | 19 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0010others(16): Show | 22 | HG00099.hp2 HG00639.hp2 HG00642.hp1 others(19): Show |
intron_variant | MODIFIER | c.6136-1883A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88065998 | ||||||
| chr12:88066077
|
A | C | 147 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(144): Show | 159 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(156): Show |
intron_variant | MODIFIER | c.6136-1962T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88066077 | ||||||
| chr12:88066104
|
CATAGATA others(3): Show |
C | 5 | a0001c0001t0001g0149a0001c0001t0001g0157a0001c0001t0001g0172others(2): Show | 5 | HG01243.hp2 HG01255.hp2 HG01978.hp2 others(2): Show |
intron_variant | MODIFIER | c.6136-1999_6136-199 others(14): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88066104 | ||||||
| chr12:88066345
|
T | G | 202 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(199): Show | 219 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(216): Show |
intron_variant | MODIFIER | c.6135+2177A>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88066345 | ||||||
| chr12:88066445
|
G | A | 1 | a0001c0001t0001g0029 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.6135+2077C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88066445 | ||||||
| chr12:88066471
|
TTC | T | 173 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(170): Show | 187 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(184): Show |
intron_variant | MODIFIER | c.6135+2049_6135+205 others(6): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88066471 | ||||||
| chr12:88066472
|
TC | T | 10 | a0001c0001t0001g0095a0001c0001t0001g0103a0001c0001t0001g0104others(7): Show | 10 | HG00639.hp1 HG01106.hp1 HG01192.hp1 others(7): Show |
intron_variant | MODIFIER | c.6135+2049delG | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88066472 | ||||||
| chr12:88066780
|
A | G | 1 | a0001c0001t0001g0185 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.6135+1742T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88066780 | ||||||
| chr12:88067214
|
TA | T | 31 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0010others(28): Show | 34 | HG00099.hp1 HG00099.hp2 HG00639.hp2 others(31): Show |
intron_variant | MODIFIER | c.6135+1307delT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88067214 | ||||||
| chr12:88067336
|
C | T | 1 | a0002c0002t0001g0214 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.6135+1186G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88067336 | ||||||
| chr12:88067433
|
G | A | 6 | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0130others(3): Show | 8 | HG00099.hp2 HG00735.hp1 HG01071.hp1 others(5): Show |
intron_variant | MODIFIER | c.6135+1089C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88067433 | ||||||
| chr12:88067466
|
A | T | 183 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(180): Show | 197 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(194): Show |
intron_variant | MODIFIER | c.6135+1056T>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88067466 | ||||||
| chr12:88067499
|
T | TAA | 12 | a0006c0007t0001g0086a0006c0007t0001g0087a0006c0007t0001g0089others(9): Show | 12 | HG00609.hp1 HG01106.hp2 HG02004.hp2 others(9): Show |
intron_variant | MODIFIER | c.6135+1021_6135+102 others(6): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88067499 | ||||||
| chr12:88067506
|
C | T | 1 | a0004c0005t0002g0021 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.6135+1016G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88067506 | ||||||
| chr12:88067952
|
C | T | 1 | a0001c0001t0001g0184 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.6135+570G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88067952 | ||||||
| chr12:88068112
|
A | T | 1 | a0001c0019t0001g0085 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.6135+410T>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88068112 | ||||||
| chr12:88068386
|
A | G | 1 | a0001c0003t0001g0057 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.6135+136T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88068386 | ||||||
| chr12:88068743
|
G | A | 3 | a0009c0010t0001g0023a0009c0010t0001g0024a0009c0010t0001g0025 | 3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.6012-98C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 43/53 | chr12 | 88068743 | ||||||
| chr12:88069266
|
T | C | 1 | a0001c0001t0001g0170 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.6012-621A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 43/53 | chr12 | 88069266 | ||||||
| chr12:88069367
|
G | A | 7 | a0006c0007t0001g0086a0006c0007t0001g0087a0006c0007t0001g0089others(4): Show | 7 | HG00609.hp1 HG02080.hp1 HG02698.hp1 others(4): Show |
intron_variant | MODIFIER | c.6012-722C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 43/53 | chr12 | 88069367 | ||||||
| chr12:88069674
|
T | C | 75 | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0013others(72): Show | 80 | HG00597.hp1 HG00597.hp2 HG00609.hp2 others(77): Show |
intron_variant | MODIFIER | c.6012-1029A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 43/53 | chr12 | 88069674 | ||||||
| chr12:88069739
|
T | C | 15 | a0004c0005t0002g0003a0004c0005t0002g0021a0004c0005t0002g0027others(12): Show | 17 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(14): Show |
intron_variant | MODIFIER | c.6012-1094A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 43/53 | chr12 | 88069739 | ||||||
| chr12:88069969
|
G | A | 1 | a0003c0004t0001g0040 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.6012-1324C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 43/53 | chr12 | 88069969 | ||||||
| chr12:88069978
|
G | GTT | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.6011+1314_6011+131 others(6): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 43/53 | chr12 | 88069978 | ||||||
| chr12:88070163
|
G | A | 9 | a0005c0006t0001g0062a0005c0006t0001g0063a0005c0006t0001g0064others(6): Show | 9 | HG02155.hp1 HG06807.hp1 NA18612.hp2 others(6): Show |
intron_variant | MODIFIER | c.6011+1131C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 43/53 | chr12 | 88070163 | ||||||
| chr12:88070329
|
C | T | 2 | a0001c0001t0001g0006a0001c0001t0001g0092 | 3 | HG02109.hp2 HG02559.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.6011+965G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 43/53 | chr12 | 88070329 | ||||||
| chr12:88070669
|
T | C | 3 | a0009c0010t0001g0023a0009c0010t0001g0024a0009c0010t0001g0025 | 3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.6011+625A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 43/53 | chr12 | 88070669 | ||||||
| chr12:88071112
|
T | C | 1 | a0001c0003t0001g0048 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.6011+182A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 43/53 | chr12 | 88071112 | ||||||
| chr12:88071133
|
A | AAT | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.6011+160_6011+161i others(4): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 43/53 | chr12 | 88071133 | ||||||
| chr12:88071210
|
A | C | 1 | a0001c0001t0001g0207 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.6011+84T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 43/53 | chr12 | 88071210 | ||||||
| chr12:88072085
|
G | A | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.5710-159C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88072085 | ||||||
| chr12:88072288
|
AGTTTTGA others(4): Show |
A | 147 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(144): Show | 159 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(156): Show |
intron_variant | MODIFIER | c.5710-373_5710-363d others(13): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88072288 | ||||||
| chr12:88072440
|
T | C | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.5710-514A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88072440 | ||||||
| chr12:88072571
|
C | T | 11 | a0004c0005t0002g0003a0004c0005t0002g0021a0004c0005t0002g0027others(8): Show | 13 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.5710-645G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88072571 | ||||||
| chr12:88072892
|
T | C | 5 | a0003c0004t0001g0077a0003c0004t0001g0078a0003c0004t0001g0079others(2): Show | 5 | HG02280.hp1 HG02615.hp2 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.5710-966A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88072892 | ||||||
| chr12:88072991
|
T | C | 1 | a0001c0019t0001g0085 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.5710-1065A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88072991 | ||||||
| chr12:88073450
|
T | C | 2 | a0001c0001t0001g0165a0001c0001t0001g0179 | 2 | HG00735.hp2 HG00741.hp2 |
intron_variant | MODIFIER | c.5710-1524A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88073450 | ||||||
| chr12:88073474
|
T | G | 1 | a0001c0001t0001g0131 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.5710-1548A>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88073474 | ||||||
| chr12:88073710
|
T | C | 5 | a0006c0009t0001g0107a0006c0009t0001g0108a0006c0009t0001g0109others(2): Show | 5 | HG01106.hp2 HG02004.hp2 HG02683.hp1 others(2): Show |
intron_variant | MODIFIER | c.5710-1784A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88073710 | ||||||
| chr12:88073761
|
A | G | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.5710-1835T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88073761 | ||||||
| chr12:88074181
|
C | T | 1 | a0001c0001t0001g0172 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.5710-2255G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88074181 | ||||||
| chr12:88074221
|
A | G | 183 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(180): Show | 197 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(194): Show |
intron_variant | MODIFIER | c.5710-2295T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88074221 | ||||||
| chr12:88074288
|
A | G | 1 | a0001c0019t0001g0085 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.5710-2362T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88074288 | ||||||
| chr12:88074313
|
C | A | 6 | a0001c0001t0001g0131a0001c0001t0001g0155a0001c0001t0001g0156others(3): Show | 6 | HG01099.hp1 HG02004.hp1 HG02273.hp2 others(3): Show |
intron_variant | MODIFIER | c.5710-2387G>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88074313 | ||||||
| chr12:88074531
|
C | T | 1 | a0001c0001t0001g0212 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.5710-2605G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88074531 | ||||||
| chr12:88074694
|
C | A | 1 | a0001c0019t0001g0085 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.5709+2528G>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88074694 | ||||||
| chr12:88074722
|
G | A | 147 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(144): Show | 159 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(156): Show |
intron_variant | MODIFIER | c.5709+2500C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88074722 | ||||||
| chr12:88074743
|
C | G | 1 | a0007c0012t0001g0053 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.5709+2479G>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88074743 | ||||||
| chr12:88075105
|
C | A | 2 | a0001c0001t0001g0037a0001c0001t0001g0039 | 2 | HG02451.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.5709+2117G>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88075105 | ||||||
| chr12:88075193
|
C | T | 1 | a0001c0001t0001g0154 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.5709+2029G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88075193 | ||||||
| chr12:88075290
|
GT | G | 196 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(193): Show | 213 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(210): Show |
intron_variant | MODIFIER | c.5709+1931delA | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88075290 | ||||||
| chr12:88075547
|
G | C | 2 | a0001c0017t0001g0015a0001c0018t0001g0016 | 2 | HG02559.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.5709+1675C>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88075547 | ||||||
| chr12:88075637
|
G | T | 1 | a0005c0006t0001g0070 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.5709+1585C>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88075637 | ||||||
| chr12:88075750
|
T | A | 16 | a0001c0003t0001g0074a0001c0003t0001g0075a0001c0003t0001g0215others(13): Show | 16 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(13): Show |
intron_variant | MODIFIER | c.5709+1472A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88075750 | ||||||
| chr12:88075755
|
C | T | 1 | a0008c0011t0001g0018 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.5709+1467G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88075755 | ||||||
| chr12:88075882
|
C | T | 1 | a0004c0005t0002g0036 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.5709+1340G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88075882 | ||||||
| chr12:88076241
|
C | A | 73 | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0013others(70): Show | 78 | HG00597.hp1 HG00597.hp2 HG00609.hp2 others(75): Show |
intron_variant | MODIFIER | c.5709+981G>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88076241 | ||||||
| chr12:88076317
|
G | A | 9 | a0005c0006t0001g0062a0005c0006t0001g0063a0005c0006t0001g0064others(6): Show | 9 | HG02155.hp1 HG06807.hp1 NA18612.hp2 others(6): Show |
intron_variant | MODIFIER | c.5709+905C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88076317 | ||||||
| chr12:88076509
|
C | T | 16 | a0001c0003t0001g0074a0001c0003t0001g0075a0001c0003t0001g0215others(13): Show | 16 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(13): Show |
intron_variant | MODIFIER | c.5709+713G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88076509 | ||||||
| chr12:88076617
|
T | G | 1 | a0001c0003t0002g0073 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.5709+605A>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88076617 | ||||||
| chr12:88076621
|
G | GTTGA | 183 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(180): Show | 197 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(194): Show |
intron_variant | MODIFIER | c.5709+600_5709+601i others(6): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88076621 | ||||||
| chr12:88076823
|
T | C | 1 | a0005c0006t0001g0068 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.5709+399A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88076823 | ||||||
| chr12:88076897
|
G | A | 1 | a0005c0006t0001g0062 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.5709+325C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88076897 | ||||||
| chr12:88077174
|
A | T | 1 | a0001c0001t0001g0102 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.5709+48T>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88077174 | ||||||
| chr12:88077177
|
C | G | 5 | a0001c0001t0001g0184a0001c0008t0001g0161a0001c0008t0001g0162others(2): Show | 5 | HG01074.hp2 HG01891.hp1 HG02602.hp2 others(2): Show |
intron_variant | MODIFIER | c.5709+45G>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88077177 | ||||||
| chr12:88077197
|
T | G | 16 | a0001c0003t0001g0074a0001c0003t0001g0075a0001c0003t0001g0215others(13): Show | 16 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(13): Show |
intron_variant | MODIFIER | c.5709+25A>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88077197 | ||||||
| chr12:88077204
|
G | T | 11 | a0004c0005t0002g0003a0004c0005t0002g0021a0004c0005t0002g0027others(8): Show | 13 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.5709+18C>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88077204 | ||||||
| chr12:88077442
|
T | C | 11 | a0004c0005t0002g0003a0004c0005t0002g0021a0004c0005t0002g0027others(8): Show | 13 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.5587-98A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 40/53 | chr12 | 88077442 | ||||||
| chr12:88077608
|
C | T | 1 | a0001c0001t0001g0171 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.5586+89G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 40/53 | chr12 | 88077608 | ||||||
| chr12:88078196
|
C | T | 1 | a0001c0001t0001g0148 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.5365-278G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 39/53 | chr12 | 88078196 | ||||||
| chr12:88078320
|
T | C | 1 | a0001c0001t0001g0156 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.5365-402A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 39/53 | chr12 | 88078320 | ||||||
| chr12:88079272
|
C | T | 147 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(144): Show | 159 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(156): Show |
intron_variant | MODIFIER | c.5227-43G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 38/53 | chr12 | 88079272 | ||||||
| chr12:88079341
|
ATAT | A | 3 | a0009c0010t0001g0023a0009c0010t0001g0024a0009c0010t0001g0025 | 3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.5227-115_5227-113d others(5): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 38/53 | chr12 | 88079341 | ||||||
| chr12:88079530
|
T | G | 36 | a0001c0003t0001g0074a0001c0003t0001g0075a0001c0003t0001g0215others(33): Show | 38 | HG01109.hp1 HG01175.hp2 HG01192.hp2 others(35): Show |
intron_variant | MODIFIER | c.5227-301A>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 38/53 | chr12 | 88079530 | ||||||
| chr12:88080044
|
C | A | 4 | a0005c0006t0001g0065a0005c0006t0001g0066a0005c0006t0001g0069others(1): Show | 4 | NA18949.hp2 NA19058.hp1 NA19083.hp1 others(1): Show |
intron_variant | MODIFIER | c.5226+138G>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 38/53 | chr12 | 88080044 | ||||||
| chr12:88080048
|
A | G | 147 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(144): Show | 159 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(156): Show |
intron_variant | MODIFIER | c.5226+134T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 38/53 | chr12 | 88080048 | ||||||
| chr12:88080419
|
G | A | 1 | a0001c0003t0001g0059 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.5013-24C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 37/53 | chr12 | 88080419 | ||||||
| chr12:88080720
|
C | T | 1 | a0006c0007t0001g0087 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.5013-325G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 37/53 | chr12 | 88080720 | ||||||
| chr12:88080857
|
G | A | 1 | a0001c0001t0001g0026 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.5013-462C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 37/53 | chr12 | 88080857 | ||||||
| chr12:88080892
|
G | A | 183 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(180): Show | 197 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(194): Show |
intron_variant | MODIFIER | c.5013-497C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 37/53 | chr12 | 88080892 | ||||||
| chr12:88081000
|
T | A | 1 | a0001c0001t0001g0195 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.5013-605A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 37/53 | chr12 | 88081000 | ||||||
| chr12:88081209
|
C | T | 2 | a0002c0002t0001g0011a0002c0002t0001g0188 | 3 | NA18957.hp2 NA18975.hp1 NA19079.hp1 |
intron_variant | MODIFIER | c.5013-814G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 37/53 | chr12 | 88081209 | ||||||
| chr12:88081235
|
G | A | 1 | a0002c0002t0001g0121 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.5013-840C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 37/53 | chr12 | 88081235 | ||||||
| chr12:88081372
|
CTA | C | 2 | a0008c0011t0001g0019a0015c0021t0001g0020 | 2 | HG02647.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.5013-979_5013-978d others(4): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 37/53 | chr12 | 88081372 | ||||||
| chr12:88081379
|
T | C | 1 | a0006c0009t0001g0108 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.5013-984A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 37/53 | chr12 | 88081379 | ||||||
| chr12:88081662
|
T | A | 1 | a0001c0001t0001g0184 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.5013-1267A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 37/53 | chr12 | 88081662 | ||||||
| chr12:88081667
|
C | T | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.5013-1272G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 37/53 | chr12 | 88081667 | ||||||
| chr12:88082192
|
T | A | 1 | a0001c0001t0001g0138 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.5012+839A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 37/53 | chr12 | 88082192 | ||||||
| chr12:88082273
|
T | C | 3 | a0004c0005t0002g0021a0004c0005t0002g0031a0004c0005t0004g0216 | 3 | HG03579.hp1 HG03579.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.5012+758A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 37/53 | chr12 | 88082273 | ||||||
| chr12:88082334
|
C | T | 1 | a0003c0004t0001g0078 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.5012+697G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 37/53 | chr12 | 88082334 | ||||||
| chr12:88082355
|
T | A | 1 | a0005c0006t0001g0067 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.5012+676A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 37/53 | chr12 | 88082355 | ||||||
| chr12:88082365
|
G | A | 1 | a0001c0001t0001g0184 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.5012+666C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 37/53 | chr12 | 88082365 | ||||||
| chr12:88082573
|
A | G | 1 | a0001c0001t0001g0167 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.5012+458T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 37/53 | chr12 | 88082573 | ||||||
| chr12:88082592
|
G | A | 11 | a0004c0005t0002g0003a0004c0005t0002g0021a0004c0005t0002g0027others(8): Show | 13 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.5012+439C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 37/53 | chr12 | 88082592 | ||||||
| chr12:88082889
|
T | C | 2 | a0001c0003t0001g0049a0001c0003t0003g0014 | 2 | HG01071.hp2 HG02293.hp1 |
intron_variant | MODIFIER | c.5012+142A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 37/53 | chr12 | 88082889 | ||||||
| chr12:88083232
|
T | C | 1 | a0003c0004t0001g0082 | 1 | HG03041.hp1 | splice_acceptor_variant&intron_variant | HIGH | c.4813-2A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 36/53 | chr12 | 88083232 | ||||||
| chr12:88083433
|
G | A | 1 | a0003c0004t0001g0083 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.4813-203C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 36/53 | chr12 | 88083433 | ||||||
| chr12:88083499
|
A | G | 1 | a0003c0004t0001g0082 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.4813-269T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 36/53 | chr12 | 88083499 | ||||||
| chr12:88083532
|
A | G | 1 | a0001c0001t0001g0207 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.4813-302T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 36/53 | chr12 | 88083532 | ||||||
| chr12:88083543
|
T | A | 1 | a0003c0004t0001g0041 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.4812+304A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 36/53 | chr12 | 88083543 | ||||||
| chr12:88084130
|
C | T | 1 | a0004c0005t0004g0216 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.4705-176G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 35/53 | chr12 | 88084130 | ||||||
| chr12:88084211
|
T | C | 11 | a0001c0001t0001g0022a0001c0001t0001g0026a0001c0001t0001g0029others(8): Show | 11 | HG00099.hp1 HG01106.hp1 HG01884.hp2 others(8): Show |
intron_variant | MODIFIER | c.4705-257A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 35/53 | chr12 | 88084211 | ||||||
| chr12:88084272
|
T | A | 15 | a0001c0003t0001g0074a0001c0003t0001g0075a0001c0003t0002g0073others(12): Show | 15 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(12): Show |
intron_variant | MODIFIER | c.4704+314A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 35/53 | chr12 | 88084272 | ||||||
| chr12:88084305
|
C | T | 147 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(144): Show | 159 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(156): Show |
intron_variant | MODIFIER | c.4704+281G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 35/53 | chr12 | 88084305 | ||||||
| chr12:88084321
|
TA | T | 147 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(144): Show | 159 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(156): Show |
intron_variant | MODIFIER | c.4704+264delT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 35/53 | chr12 | 88084321 | ||||||
| chr12:88084539
|
TA | T | 147 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(144): Show | 159 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(156): Show |
intron_variant | MODIFIER | c.4704+46delT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 35/53 | chr12 | 88084539 | ||||||
| chr12:88084969
|
T | C | 1 | a0005c0006t0001g0067 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.4438-117A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 34/53 | chr12 | 88084969 | ||||||
| chr12:88085096
|
T | C | 1 | a0001c0017t0001g0015 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.4438-244A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 34/53 | chr12 | 88085096 | ||||||
| chr12:88085105
|
G | A | 4 | a0008c0011t0001g0017a0008c0011t0001g0018a0008c0011t0001g0019others(1): Show | 4 | HG01884.hp1 HG02647.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.4438-253C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 34/53 | chr12 | 88085105 | ||||||
| chr12:88085655
|
C | T | 1 | a0001c0001t0001g0212 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.4437+384G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 34/53 | chr12 | 88085655 | ||||||
| chr12:88085657
|
T | C | 1 | a0010c0013t0001g0009 | 2 | NA18981.hp2 NA19077.hp1 |
intron_variant | MODIFIER | c.4437+382A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 34/53 | chr12 | 88085657 | ||||||
| chr12:88085705
|
T | C | 1 | a0001c0001t0001g0132 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.4437+334A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 34/53 | chr12 | 88085705 | ||||||
| chr12:88085715
|
A | C | 3 | a0003c0004t0001g0078a0003c0004t0001g0079a0003c0004t0001g0080 | 3 | HG02280.hp1 HG02615.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.4437+324T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 34/53 | chr12 | 88085715 | ||||||
| chr12:88085847
|
A | G | 1 | a0001c0001t0001g0153 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.4437+192T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 34/53 | chr12 | 88085847 | ||||||
| chr12:88085992
|
A | C | 1 | a0001c0001t0001g0204 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.4437+47T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 34/53 | chr12 | 88085992 | ||||||
| chr12:88086533
|
C | T | 1 | a0001c0001t0001g0103 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.4195-35G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/53 | chr12 | 88086533 | ||||||
| chr12:88086704
|
T | TATCCATC others(1): Show |
4 | a0008c0011t0001g0017a0008c0011t0001g0018a0008c0011t0001g0019others(1): Show | 4 | HG01884.hp1 HG02647.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.4195-214_4195-207d others(10): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/53 | chr12 | 88086704 | ||||||
| chr12:88086704
|
T | TATCCATC others(9): Show |
76 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0022others(73): Show | 82 | HG00597.hp1 HG00597.hp2 HG00639.hp1 others(79): Show |
intron_variant | MODIFIER | c.4195-222_4195-207d others(18): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/53 | chr12 | 88086704 | ||||||
| chr12:88086704
|
T | TATCCATC others(13): Show |
80 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0010others(77): Show | 88 | HG00099.hp2 HG00609.hp1 HG00609.hp2 others(85): Show |
intron_variant | MODIFIER | c.4195-226_4195-207d others(22): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/53 | chr12 | 88086704 | ||||||
| chr12:88086704
|
T | TATCCATC others(17): Show |
6 | a0001c0001t0001g0142a0001c0008t0001g0202a0002c0002t0001g0115others(3): Show | 6 | HG01074.hp1 HG01074.hp2 HG02145.hp2 others(3): Show |
intron_variant | MODIFIER | c.4195-230_4195-207d others(26): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/53 | chr12 | 88086704 | ||||||
| chr12:88086712
|
C | CATCCATC others(9): Show |
1 | a0001c0001t0001g0135 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.4195-215_4195-214i others(18): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/53 | chr12 | 88086712 | ||||||
| chr12:88086838
|
C | T | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.4195-340G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/53 | chr12 | 88086838 | ||||||
| chr12:88086839
|
G | A | 2 | a0001c0003t0001g0074a0001c0003t0001g0075 | 2 | HG02486.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.4195-341C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/53 | chr12 | 88086839 | ||||||
| chr12:88086846
|
G | A | 183 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(180): Show | 197 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(194): Show |
intron_variant | MODIFIER | c.4195-348C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/53 | chr12 | 88086846 | ||||||
| chr12:88087004
|
A | T | 147 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(144): Show | 159 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(156): Show |
intron_variant | MODIFIER | c.4195-506T>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/53 | chr12 | 88087004 | ||||||
| chr12:88087110
|
G | C | 12 | a0005c0006t0001g0062a0005c0006t0001g0063a0005c0006t0001g0064others(9): Show | 12 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(9): Show |
intron_variant | MODIFIER | c.4195-612C>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/53 | chr12 | 88087110 | ||||||
| chr12:88087123
|
T | C | 1 | a0001c0001t0001g0144 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.4195-625A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/53 | chr12 | 88087123 | ||||||
| chr12:88087149
|
T | C | 153 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(150): Show | 165 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(162): Show |
intron_variant | MODIFIER | c.4194+631A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/53 | chr12 | 88087149 | ||||||
| chr12:88087495
|
C | T | 1 | a0001c0008t0001g0162 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.4194+285G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/53 | chr12 | 88087495 | ||||||
| chr12:88087582
|
C | T | 1 | a0001c0001t0001g0211 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.4194+198G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/53 | chr12 | 88087582 | ||||||
| chr12:88087719
|
C | CA | 29 | a0001c0001t0001g0095a0001c0001t0001g0133a0001c0001t0001g0142others(26): Show | 29 | HG01106.hp2 HG01255.hp1 HG01981.hp1 others(26): Show |
intron_variant | MODIFIER | c.4194+60dupT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/53 | chr12 | 88087719 | ||||||
| chr12:88087719
|
CA | C | 9 | a0001c0001t0001g0037a0001c0001t0001g0146a0008c0011t0001g0017others(6): Show | 9 | HG01884.hp1 HG02257.hp2 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.4194+60delT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/53 | chr12 | 88087719 | ||||||
| chr12:88087738
|
A | C | 2 | a0001c0001t0001g0158a0001c0001t0001g0193 | 2 | HG02135.hp1 HG02135.hp2 |
intron_variant | MODIFIER | c.4194+42T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/53 | chr12 | 88087738 | ||||||
| chr12:88088170
|
T | A | 1 | a0001c0003t0001g0060 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4030-226A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 31/53 | chr12 | 88088170 | ||||||
| chr12:88088317
|
T | C | 2 | a0001c0017t0001g0015a0001c0018t0001g0016 | 2 | HG02559.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.4030-373A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 31/53 | chr12 | 88088317 | ||||||
| chr12:88088354
|
T | C | 1 | a0001c0001t0001g0176 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.4030-410A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 31/53 | chr12 | 88088354 | ||||||
| chr12:88088561
|
C | T | 1 | a0002c0002t0001g0122 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.4029+471G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 31/53 | chr12 | 88088561 | ||||||
| chr12:88088760
|
C | G | 1 | a0005c0006t0001g0062 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.4029+272G>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 31/53 | chr12 | 88088760 | ||||||
| chr12:88089495
|
TA | T | 183 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(180): Show | 197 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(194): Show |
intron_variant | MODIFIER | c.3574-9delT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 30/53 | chr12 | 88089495 | ||||||
| chr12:88089726
|
G | GT | 10 | a0001c0001t0001g0094a0001c0001t0001g0099a0001c0003t0001g0047others(7): Show | 10 | HG01884.hp1 HG01934.hp2 HG02055.hp1 others(7): Show |
intron_variant | MODIFIER | c.3574-240dupA | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 30/53 | chr12 | 88089726 | ||||||
| chr12:88089788
|
G | A | 147 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(144): Show | 159 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(156): Show |
intron_variant | MODIFIER | c.3574-301C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 30/53 | chr12 | 88089788 | ||||||
| chr12:88089812
|
C | T | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.3574-325G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 30/53 | chr12 | 88089812 | ||||||
| chr12:88089883
|
C | T | 1 | a0001c0003t0001g0215 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.3574-396G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 30/53 | chr12 | 88089883 | ||||||
| chr12:88089888
|
G | A | 1 | a0001c0001t0001g0212 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.3574-401C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 30/53 | chr12 | 88089888 | ||||||
| chr12:88089955
|
G | C | 11 | a0004c0005t0002g0003a0004c0005t0002g0021a0004c0005t0002g0027others(8): Show | 13 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.3574-468C>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 30/53 | chr12 | 88089955 | ||||||
| chr12:88090039
|
T | G | 3 | a0001c0001t0001g0093a0001c0001t0001g0105a0014c0022t0001g0098 | 3 | HG00639.hp2 HG03471.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.3574-552A>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 30/53 | chr12 | 88090039 | ||||||
| chr12:88090049
|
T | C | 11 | a0004c0005t0002g0003a0004c0005t0002g0021a0004c0005t0002g0027others(8): Show | 13 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.3574-562A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 30/53 | chr12 | 88090049 | ||||||
| chr12:88090222
|
T | C | 30 | a0001c0003t0001g0074a0001c0003t0001g0075a0001c0003t0001g0215others(27): Show | 32 | HG01109.hp1 HG01175.hp2 HG01192.hp2 others(29): Show |
intron_variant | MODIFIER | c.3573+506A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 30/53 | chr12 | 88090222 | ||||||
| chr12:88090313
|
T | G | 3 | a0009c0010t0001g0023a0009c0010t0001g0024a0009c0010t0001g0025 | 3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.3573+415A>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 30/53 | chr12 | 88090313 | ||||||
| chr12:88090410
|
T | C | 7 | a0003c0004t0001g0077a0003c0004t0001g0078a0003c0004t0001g0079others(4): Show | 7 | HG02280.hp1 HG02615.hp2 HG02895.hp2 others(4): Show |
intron_variant | MODIFIER | c.3573+318A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 30/53 | chr12 | 88090410 | ||||||
| chr12:88090501
|
G | A | 1 | a0001c0003t0001g0056 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.3573+227C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 30/53 | chr12 | 88090501 | ||||||
| chr12:88090541
|
G | T | 16 | a0001c0003t0001g0074a0001c0003t0001g0075a0001c0003t0001g0215others(13): Show | 16 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(13): Show |
intron_variant | MODIFIER | c.3573+187C>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 30/53 | chr12 | 88090541 | ||||||
| chr12:88091054
|
T | C | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.3462-215A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 29/53 | chr12 | 88091054 | ||||||
| chr12:88091125
|
T | C | 3 | a0001c0003t0001g0074a0001c0003t0001g0075a0001c0003t0002g0073 | 3 | HG02486.hp2 HG03209.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.3462-286A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 29/53 | chr12 | 88091125 | ||||||
| chr12:88091402
|
CA | C | 165 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(162): Show | 179 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(176): Show |
intron_variant | MODIFIER | c.3462-564delT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 29/53 | chr12 | 88091402 | ||||||
| chr12:88091402
|
CAA | C | 16 | a0001c0001t0001g0204a0001c0003t0001g0074a0001c0003t0001g0075others(13): Show | 16 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(13): Show |
intron_variant | MODIFIER | c.3462-565_3462-564d others(4): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 29/53 | chr12 | 88091402 | ||||||
| chr12:88091455
|
C | A | 1 | a0001c0001t0001g0209 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.3462-616G>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 29/53 | chr12 | 88091455 | ||||||
| chr12:88091570
|
G | C | 1 | a0011c0026t0001g0090 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.3462-731C>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 29/53 | chr12 | 88091570 | ||||||
| chr12:88091637
|
T | C | 1 | a0005c0006t0001g0064 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.3462-798A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 29/53 | chr12 | 88091637 | ||||||
| chr12:88091677
|
A | T | 21 | a0001c0001t0001g0099a0001c0001t0001g0190a0001c0001t0001g0208others(18): Show | 21 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(18): Show |
intron_variant | MODIFIER | c.3462-838T>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 29/53 | chr12 | 88091677 | ||||||
| chr12:88091765
|
TTA | T | 11 | a0004c0005t0002g0003a0004c0005t0002g0021a0004c0005t0002g0027others(8): Show | 13 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.3461+914_3461+915d others(4): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 29/53 | chr12 | 88091765 | ||||||
| chr12:88091864
|
G | A | 1 | a0001c0001t0001g0167 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.3461+817C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 29/53 | chr12 | 88091864 | ||||||
| chr12:88092058
|
A | G | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.3461+623T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 29/53 | chr12 | 88092058 | ||||||
| chr12:88092070
|
G | A | 1 | a0001c0003t0001g0215 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.3461+611C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 29/53 | chr12 | 88092070 | ||||||
| chr12:88092082
|
C | T | 3 | a0009c0010t0001g0023a0009c0010t0001g0024a0009c0010t0001g0025 | 3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.3461+599G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 29/53 | chr12 | 88092082 | ||||||
| chr12:88092217
|
C | T | 1 | a0006c0007t0001g0124 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.3461+464G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 29/53 | chr12 | 88092217 | ||||||
| chr12:88092237
|
T | C | 1 | a0001c0003t0002g0073 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.3461+444A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 29/53 | chr12 | 88092237 | ||||||
| chr12:88093052
|
A | C | 1 | a0001c0003t0001g0215 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.3310-220T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 28/53 | chr12 | 88093052 | ||||||
| chr12:88093428
|
G | A | 4 | a0008c0011t0001g0017a0008c0011t0001g0018a0008c0011t0001g0019others(1): Show | 4 | HG01884.hp1 HG02647.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.3309+342C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 28/53 | chr12 | 88093428 | ||||||
| chr12:88093429
|
C | T | 1 | a0001c0001t0001g0145 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.3309+341G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 28/53 | chr12 | 88093429 | ||||||
| chr12:88093545
|
A | C | 13 | a0003c0004t0001g0001a0003c0004t0001g0040a0003c0004t0001g0041others(10): Show | 16 | HG02280.hp1 HG02615.hp2 HG02630.hp2 others(13): Show |
intron_variant | MODIFIER | c.3309+225T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 28/53 | chr12 | 88093545 | ||||||
| chr12:88093727
|
T | C | 1 | a0001c0019t0001g0085 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.3309+43A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 28/53 | chr12 | 88093727 | ||||||
| chr12:88094107
|
C | G | 1 | a0003c0004t0001g0082 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.3104-132G>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88094107 | ||||||
| chr12:88094321
|
T | A | 4 | a0008c0011t0001g0017a0008c0011t0001g0018a0008c0011t0001g0019others(1): Show | 4 | HG01884.hp1 HG02647.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.3104-346A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88094321 | ||||||
| chr12:88094644
|
G | A | 3 | a0001c0001t0001g0006a0001c0001t0001g0092a0001c0001t0001g0099 | 4 | HG02109.hp2 HG02559.hp1 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.3104-669C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88094644 | ||||||
| chr12:88094657
|
A | ATTAG | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.3104-686_3104-683d others(6): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88094657 | ||||||
| chr12:88094672
|
AG | A | 182 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(179): Show | 196 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(193): Show |
intron_variant | MODIFIER | c.3104-698delC | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88094672 | ||||||
| chr12:88094825
|
C | T | 147 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(144): Show | 159 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(156): Show |
intron_variant | MODIFIER | c.3104-850G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88094825 | ||||||
| chr12:88094858
|
G | A | 1 | a0001c0001t0001g0151 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.3104-883C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88094858 | ||||||
| chr12:88095044
|
G | A | 1 | a0006c0009t0001g0129 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.3104-1069C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88095044 | ||||||
| chr12:88095108
|
T | A | 1 | a0001c0001t0001g0178 | 1 | NA18965.hp2 | intron_variant | MODIFIER | c.3104-1133A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88095108 | ||||||
| chr12:88095201
|
A | T | 1 | a0005c0006t0001g0064 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.3104-1226T>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88095201 | ||||||
| chr12:88095231
|
G | T | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.3104-1256C>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88095231 | ||||||
| chr12:88095233
|
C | T | 3 | a0001c0003t0001g0058a0001c0003t0001g0059a0001c0003t0001g0084 | 3 | HG03209.hp1 HG03540.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.3104-1258G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88095233 | ||||||
| chr12:88095262
|
A | C | 6 | a0002c0002t0001g0008a0002c0002t0001g0091a0002c0002t0001g0114others(3): Show | 7 | HG01074.hp1 HG01081.hp2 HG01099.hp2 others(4): Show |
intron_variant | MODIFIER | c.3104-1287T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88095262 | ||||||
| chr12:88095274
|
G | C | 1 | a0001c0003t0001g0215 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.3104-1299C>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88095274 | ||||||
| chr12:88095302
|
T | C | 2 | a0001c0017t0001g0015a0001c0018t0001g0016 | 2 | HG02559.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.3104-1327A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88095302 | ||||||
| chr12:88095396
|
G | A | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.3104-1421C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88095396 | ||||||
| chr12:88095948
|
T | C | 2 | a0004c0005t0002g0021a0004c0005t0004g0216 | 2 | HG03579.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.3103+940A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88095948 | ||||||
| chr12:88096018
|
A | G | 1 | a0005c0006t0001g0063 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.3103+870T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88096018 | ||||||
| chr12:88096050
|
AT | A | 72 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0010others(69): Show | 79 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(76): Show |
intron_variant | MODIFIER | c.3103+837delA | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88096050 | ||||||
| chr12:88096050
|
ATT | A | 20 | a0001c0001t0001g0037a0001c0001t0001g0126a0001c0001t0001g0134others(17): Show | 22 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(19): Show |
intron_variant | MODIFIER | c.3103+836_3103+837d others(4): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88096050 | ||||||
| chr12:88096050
|
ATTTT | A | 75 | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0013others(72): Show | 80 | HG00597.hp1 HG00597.hp2 HG00609.hp2 others(77): Show |
intron_variant | MODIFIER | c.3103+834_3103+837d others(6): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88096050 | ||||||
| chr12:88096133
|
C | G | 1 | a0001c0001t0001g0030 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.3103+755G>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88096133 | ||||||
| chr12:88096146
|
T | A | 1 | a0014c0022t0001g0098 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.3103+742A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88096146 | ||||||
| chr12:88096154
|
T | C | 1 | a0001c0018t0001g0016 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.3103+734A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88096154 | ||||||
| chr12:88096268
|
C | T | 1 | a0001c0001t0001g0211 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.3103+620G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88096268 | ||||||
| chr12:88096277
|
G | T | 1 | a0003c0004t0001g0040 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.3103+611C>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88096277 | ||||||
| chr12:88096329
|
T | C | 1 | a0004c0005t0004g0216 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.3103+559A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88096329 | ||||||
| chr12:88096342
|
C | T | 30 | a0001c0001t0001g0100a0002c0002t0001g0005a0002c0002t0001g0008others(27): Show | 34 | HG00741.hp1 HG01074.hp1 HG01081.hp2 others(31): Show |
intron_variant | MODIFIER | c.3103+546G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88096342 | ||||||
| chr12:88096394
|
T | C | 1 | a0006c0007t0001g0124 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.3103+494A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88096394 | ||||||
| chr12:88096519
|
T | C | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.3103+369A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88096519 | ||||||
| chr12:88097077
|
T | C | 1 | a0001c0001t0001g0157 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.2992-78A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88097077 | ||||||
| chr12:88097321
|
C | T | 4 | a0008c0011t0001g0017a0008c0011t0001g0018a0008c0011t0001g0019others(1): Show | 4 | HG01884.hp1 HG02647.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.2992-322G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88097321 | ||||||
| chr12:88097517
|
T | C | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.2992-518A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88097517 | ||||||
| chr12:88097604
|
CACACAT | C | 2 | a0002c0002t0001g0122a0002c0002t0001g0123 | 2 | HG00741.hp1 HG01109.hp2 |
intron_variant | MODIFIER | c.2992-611_2992-606d others(8): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88097604 | ||||||
| chr12:88097606
|
CACAT | C | 3 | a0002c0002t0001g0111a0002c0002t0001g0112a0002c0002t0001g0113 | 3 | NA18942.hp2 NA18970.hp2 NA19004.hp2 |
intron_variant | MODIFIER | c.2992-611_2992-608d others(6): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88097606 | ||||||
| chr12:88097608
|
C | CACAT | 2 | a0001c0001t0001g0159a0001c0001t0001g0203 | 2 | HG01099.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.2992-610_2992-609i others(6): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88097608 | ||||||
| chr12:88097608
|
CAT | C | 23 | a0001c0001t0001g0100a0002c0002t0001g0005a0002c0002t0001g0008others(20): Show | 27 | HG01074.hp1 HG01081.hp2 HG01099.hp2 others(24): Show |
intron_variant | MODIFIER | c.2992-611_2992-610d others(4): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88097608 | ||||||
| chr12:88097610
|
T | C | 4 | a0001c0001t0001g0159a0001c0001t0001g0203a0002c0002t0001g0120others(1): Show | 4 | HG01099.hp1 HG04184.hp2 NA18965.hp1 others(1): Show |
intron_variant | MODIFIER | c.2992-611A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88097610 | ||||||
| chr12:88097610
|
T | TAC | 83 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(80): Show | 91 | HG00099.hp1 HG00099.hp2 HG00609.hp2 others(88): Show |
intron_variant | MODIFIER | c.2992-613_2992-612d others(4): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88097610 | ||||||
| chr12:88097610
|
T | TACAC | 10 | a0001c0001t0001g0029a0001c0001t0001g0096a0001c0001t0001g0102others(7): Show | 10 | HG00642.hp2 HG02145.hp2 HG02615.hp1 others(7): Show |
intron_variant | MODIFIER | c.2992-615_2992-612d others(6): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88097610 | ||||||
| chr12:88097610
|
TAC | T | 25 | a0001c0001t0001g0093a0001c0001t0001g0105a0001c0001t0001g0137others(22): Show | 28 | HG00639.hp2 HG01106.hp2 HG01192.hp1 others(25): Show |
intron_variant | MODIFIER | c.2992-613_2992-612d others(4): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88097610 | ||||||
| chr12:88097610
|
TACAC | T | 11 | a0001c0003t0002g0073a0001c0017t0001g0015a0001c0018t0001g0016others(8): Show | 11 | HG02280.hp1 HG02559.hp2 HG02615.hp2 others(8): Show |
intron_variant | MODIFIER | c.2992-615_2992-612d others(6): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88097610 | ||||||
| chr12:88097610
|
TACACAC | T | 3 | a0009c0010t0001g0023a0009c0010t0001g0024a0009c0010t0001g0025 | 3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.2992-617_2992-612d others(8): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88097610 | ||||||
| chr12:88097640
|
T | C | 1 | a0001c0001t0001g0097 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.2992-641A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88097640 | ||||||
| chr12:88097872
|
C | T | 183 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(180): Show | 197 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(194): Show |
intron_variant | MODIFIER | c.2992-873G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88097872 | ||||||
| chr12:88098071
|
C | T | 1 | a0001c0001t0001g0135 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.2992-1072G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88098071 | ||||||
| chr12:88098105
|
G | A | 11 | a0004c0005t0002g0003a0004c0005t0002g0021a0004c0005t0002g0027others(8): Show | 13 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.2992-1106C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88098105 | ||||||
| chr12:88098118
|
C | A | 2 | a0006c0007t0001g0089a0017c0016t0001g0088 | 2 | HG00609.hp1 HG02080.hp1 |
intron_variant | MODIFIER | c.2992-1119G>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88098118 | ||||||
| chr12:88098167
|
T | C | 1 | a0004c0005t0002g0036 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.2992-1168A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88098167 | ||||||
| chr12:88098770
|
C | A | 3 | a0001c0003t0001g0047a0001c0003t0001g0048a0001c0003t0001g0054 | 3 | HG01891.hp2 HG02055.hp1 HG02257.hp1 |
intron_variant | MODIFIER | c.2992-1771G>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88098770 | ||||||
| chr12:88098777
|
GCTCC | G | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.2992-1782_2992-177 others(8): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88098777 | ||||||
| chr12:88098782
|
A | G | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.2992-1783T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88098782 | ||||||
| chr12:88098873
|
C | T | 3 | a0001c0003t0001g0074a0001c0003t0001g0075a0001c0003t0002g0073 | 3 | HG02486.hp2 HG03209.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.2992-1874G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88098873 | ||||||
| chr12:88098963
|
T | G | 2 | a0001c0001t0001g0165a0001c0001t0001g0179 | 2 | HG00735.hp2 HG00741.hp2 |
intron_variant | MODIFIER | c.2992-1964A>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88098963 | ||||||
| chr12:88098994
|
C | T | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.2992-1995G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88098994 | ||||||
| chr12:88099173
|
G | A | 1 | a0001c0003t0001g0056 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.2992-2174C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88099173 | ||||||
| chr12:88099471
|
A | G | 1 | a0001c0001t0001g0167 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.2992-2472T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88099471 | ||||||
| chr12:88099540
|
T | C | 1 | a0001c0018t0001g0016 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.2992-2541A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88099540 | ||||||
| chr12:88099833
|
C | G | 1 | a0001c0001t0001g0166 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.2992-2834G>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88099833 | ||||||
| chr12:88100035
|
T | C | 1 | a0001c0001t0001g0099 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2991+2803A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88100035 | ||||||
| chr12:88100197
|
G | C | 5 | a0001c0001t0001g0145a0001c0001t0001g0180a0001c0001t0001g0181others(2): Show | 5 | HG02155.hp2 NA18948.hp1 NA18951.hp2 others(2): Show |
intron_variant | MODIFIER | c.2991+2641C>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88100197 | ||||||
| chr12:88100317
|
A | G | 9 | a0001c0001t0001g0131a0001c0001t0001g0155a0001c0001t0001g0156others(6): Show | 9 | HG01099.hp1 HG02004.hp1 HG02273.hp1 others(6): Show |
intron_variant | MODIFIER | c.2991+2521T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88100317 | ||||||
| chr12:88100711
|
A | T | 2 | a0001c0003t0001g0048a0001c0003t0001g0054 | 2 | HG01891.hp2 HG02257.hp1 |
intron_variant | MODIFIER | c.2991+2127T>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88100711 | ||||||
| chr12:88100747
|
G | T | 2 | a0001c0017t0001g0015a0001c0018t0001g0016 | 2 | HG02559.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.2991+2091C>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88100747 | ||||||
| chr12:88100803
|
A | T | 1 | a0005c0006t0001g0067 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.2991+2035T>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88100803 | ||||||
| chr12:88100941
|
C | T | 75 | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0013others(72): Show | 80 | HG00597.hp1 HG00597.hp2 HG00609.hp2 others(77): Show |
intron_variant | MODIFIER | c.2991+1897G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88100941 | ||||||
| chr12:88101248
|
G | A | 1 | a0001c0001t0001g0030 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.2991+1590C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88101248 | ||||||
| chr12:88101480
|
C | CA | 29 | a0001c0001t0001g0026a0001c0001t0001g0137a0001c0001t0001g0142others(26): Show | 29 | HG00597.hp1 HG00642.hp2 HG01109.hp2 others(26): Show |
intron_variant | MODIFIER | c.2991+1357dupT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88101480 | ||||||
| chr12:88101480
|
CA | C | 6 | a0001c0001t0001g0103a0001c0001t0001g0132a0001c0001t0001g0165others(3): Show | 6 | HG00741.hp2 HG01081.hp1 HG02280.hp2 others(3): Show |
intron_variant | MODIFIER | c.2991+1357delT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88101480 | ||||||
| chr12:88101480
|
CAA | C | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.2991+1356_2991+135 others(6): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88101480 | ||||||
| chr12:88101513
|
G | C | 147 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(144): Show | 159 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(156): Show |
intron_variant | MODIFIER | c.2991+1325C>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88101513 | ||||||
| chr12:88101615
|
G | A | 1 | a0005c0006t0001g0064 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.2991+1223C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88101615 | ||||||
| chr12:88101658
|
CA | C | 201 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(198): Show | 219 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(216): Show |
intron_variant | MODIFIER | c.2991+1179delT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88101658 | ||||||
| chr12:88101658
|
CAA | C | 8 | a0001c0001t0001g0164a0001c0017t0001g0015a0001c0018t0001g0016others(5): Show | 8 | HG00639.hp1 HG01884.hp1 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.2991+1178_2991+117 others(6): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88101658 | ||||||
| chr12:88101681
|
T | C | 3 | a0001c0001t0001g0209a0001c0001t0001g0210a0001c0001t0001g0211 | 3 | HG02486.hp1 HG02818.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.2991+1157A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88101681 | ||||||
| chr12:88102129
|
C | A | 147 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(144): Show | 159 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(156): Show |
intron_variant | MODIFIER | c.2991+709G>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88102129 | ||||||
| chr12:88102203
|
G | C | 1 | a0001c0018t0001g0016 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.2991+635C>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88102203 | ||||||
| chr12:88102247
|
T | A | 1 | a0001c0001t0001g0186 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.2991+591A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88102247 | ||||||
| chr12:88102397
|
A | C | 1 | a0001c0001t0001g0137 | 1 | NA19082.hp2 | intron_variant | MODIFIER | c.2991+441T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88102397 | ||||||
| chr12:88102630
|
T | C | 4 | a0008c0011t0001g0017a0008c0011t0001g0018a0008c0011t0001g0019others(1): Show | 4 | HG01884.hp1 HG02647.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.2991+208A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88102630 | ||||||
| chr12:88102633
|
A | G | 30 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0010others(27): Show | 33 | HG00099.hp1 HG00099.hp2 HG00639.hp2 others(30): Show |
intron_variant | MODIFIER | c.2991+205T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88102633 | ||||||
| chr12:88102641
|
TTG | T | 178 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(175): Show | 192 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(189): Show |
intron_variant | MODIFIER | c.2991+195_2991+196d others(4): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88102641 | ||||||
| chr12:88103061
|
C | G | 147 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(144): Show | 159 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(156): Show |
intron_variant | MODIFIER | c.2818-50G>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88103061 | ||||||
| chr12:88103238
|
TC | T | 9 | a0005c0006t0001g0062a0005c0006t0001g0063a0005c0006t0001g0064others(6): Show | 9 | HG02155.hp1 HG06807.hp1 NA18612.hp2 others(6): Show |
intron_variant | MODIFIER | c.2818-228delG | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88103238 | ||||||
| chr12:88103550
|
G | T | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.2818-539C>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88103550 | ||||||
| chr12:88103673
|
A | G | 2 | a0001c0017t0001g0015a0001c0018t0001g0016 | 2 | HG02559.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.2818-662T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88103673 | ||||||
| chr12:88103742
|
TA | T | 16 | a0001c0003t0001g0074a0001c0003t0001g0075a0001c0003t0001g0215others(13): Show | 16 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(13): Show |
intron_variant | MODIFIER | c.2818-732delT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88103742 | ||||||
| chr12:88103754
|
C | T | 2 | a0001c0017t0001g0015a0001c0018t0001g0016 | 2 | HG02559.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.2818-743G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88103754 | ||||||
| chr12:88103783
|
C | T | 147 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(144): Show | 159 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(156): Show |
intron_variant | MODIFIER | c.2818-772G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88103783 | ||||||
| chr12:88103786
|
T | C | 1 | a0001c0003t0002g0073 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.2818-775A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88103786 | ||||||
| chr12:88103897
|
G | A | 147 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(144): Show | 159 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(156): Show |
intron_variant | MODIFIER | c.2818-886C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88103897 | ||||||
| chr12:88104057
|
AT | A | 15 | a0001c0003t0001g0074a0001c0003t0001g0075a0001c0003t0002g0073others(12): Show | 15 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(12): Show |
intron_variant | MODIFIER | c.2818-1047delA | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88104057 | ||||||
| chr12:88104059
|
A | C | 15 | a0001c0003t0001g0074a0001c0003t0001g0075a0001c0003t0002g0073others(12): Show | 15 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(12): Show |
intron_variant | MODIFIER | c.2818-1048T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88104059 | ||||||
| chr12:88104129
|
T | C | 183 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(180): Show | 197 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(194): Show |
intron_variant | MODIFIER | c.2818-1118A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88104129 | ||||||
| chr12:88104134
|
G | T | 147 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(144): Show | 159 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(156): Show |
intron_variant | MODIFIER | c.2818-1123C>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88104134 | ||||||
| chr12:88104584
|
C | T | 2 | a0001c0001t0001g0006a0001c0001t0001g0092 | 3 | HG02109.hp2 HG02559.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.2818-1573G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88104584 | ||||||
| chr12:88104623
|
T | A | 147 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(144): Show | 159 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(156): Show |
intron_variant | MODIFIER | c.2818-1612A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88104623 | ||||||
| chr12:88104633
|
G | A | 147 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(144): Show | 159 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(156): Show |
intron_variant | MODIFIER | c.2818-1622C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88104633 | ||||||
| chr12:88104919
|
G | C | 3 | a0009c0010t0001g0023a0009c0010t0001g0024a0009c0010t0001g0025 | 3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.2817+1756C>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88104919 | ||||||
| chr12:88105016
|
G | C | 1 | a0001c0001t0001g0150 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.2817+1659C>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88105016 | ||||||
| chr12:88105176
|
C | G | 147 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(144): Show | 159 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(156): Show |
intron_variant | MODIFIER | c.2817+1499G>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88105176 | ||||||
| chr12:88105311
|
T | C | 3 | a0009c0010t0001g0023a0009c0010t0001g0024a0009c0010t0001g0025 | 3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.2817+1364A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88105311 | ||||||
| chr12:88105371
|
C | CA | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.2817+1303dupT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88105371 | ||||||
| chr12:88105546
|
A | C | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.2817+1129T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88105546 | ||||||
| chr12:88105616
|
C | T | 1 | a0001c0001t0001g0210 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.2817+1059G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88105616 | ||||||
| chr12:88105681
|
T | G | 1 | a0004c0005t0002g0034 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.2817+994A>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88105681 | ||||||
| chr12:88105720
|
T | TTTC | 11 | a0004c0005t0002g0003a0004c0005t0002g0021a0004c0005t0002g0027others(8): Show | 13 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.2817+952_2817+954d others(5): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88105720 | ||||||
| chr12:88105846
|
C | T | 2 | a0001c0017t0001g0015a0001c0018t0001g0016 | 2 | HG02559.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.2817+829G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88105846 | ||||||
| chr12:88105891
|
G | A | 12 | a0005c0006t0001g0062a0005c0006t0001g0063a0005c0006t0001g0064others(9): Show | 12 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(9): Show |
intron_variant | MODIFIER | c.2817+784C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88105891 | ||||||
| chr12:88105930
|
A | C | 12 | a0005c0006t0001g0062a0005c0006t0001g0063a0005c0006t0001g0064others(9): Show | 12 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(9): Show |
intron_variant | MODIFIER | c.2817+745T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88105930 | ||||||
| chr12:88105933
|
A | C | 11 | a0004c0005t0002g0003a0004c0005t0002g0021a0004c0005t0002g0027others(8): Show | 13 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.2817+742T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88105933 | ||||||
| chr12:88106164
|
C | T | 1 | a0001c0001t0001g0143 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.2817+511G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88106164 | ||||||
| chr12:88106627
|
T | C | 5 | a0001c0001t0001g0026a0001c0001t0001g0037a0001c0001t0001g0038others(2): Show | 5 | HG02451.hp1 HG02647.hp2 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.2817+48A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88106627 | ||||||
| chr12:88107404
|
A | AATAATAA others(10): Show |
1 | a0001c0003t0001g0057 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.2484-307_2484-306i others(19): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 23/53 | chr12 | 88107404 | ||||||
| chr12:88107611
|
C | CA | 5 | a0001c0001t0001g0142a0001c0001t0001g0191a0001c0001t0001g0198others(2): Show | 5 | HG01109.hp2 HG01981.hp2 HG02080.hp2 others(2): Show |
intron_variant | MODIFIER | c.2484-514dupT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 23/53 | chr12 | 88107611 | ||||||
| chr12:88107695
|
A | G | 167 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(164): Show | 181 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(178): Show |
intron_variant | MODIFIER | c.2484-597T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 23/53 | chr12 | 88107695 | ||||||
| chr12:88107879
|
G | A | 3 | a0001c0001t0001g0142a0001c0001t0001g0148a0001c0001t0001g0153 | 3 | HG02145.hp2 HG02717.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.2484-781C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 23/53 | chr12 | 88107879 | ||||||
| chr12:88107905
|
G | GA | 7 | a0001c0017t0001g0015a0001c0018t0001g0016a0004c0005t0002g0035others(4): Show | 7 | HG01884.hp1 HG02258.hp2 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.2484-808dupT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 23/53 | chr12 | 88107905 | ||||||
| chr12:88107939
|
T | C | 4 | a0003c0004t0001g0001a0003c0004t0001g0042a0003c0004t0001g0043others(1): Show | 7 | HG02630.hp2 HG02717.hp1 HG02723.hp1 others(4): Show |
intron_variant | MODIFIER | c.2484-841A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 23/53 | chr12 | 88107939 | ||||||
| chr12:88108011
|
T | C | 1 | a0001c0001t0001g0192 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.2484-913A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 23/53 | chr12 | 88108011 | ||||||
| chr12:88108017
|
T | C | 1 | a0001c0001t0001g0187 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.2484-919A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 23/53 | chr12 | 88108017 | ||||||
| chr12:88108840
|
C | T | 13 | a0003c0004t0001g0001a0003c0004t0001g0040a0003c0004t0001g0041others(10): Show | 16 | HG02280.hp1 HG02615.hp2 HG02630.hp2 others(13): Show |
intron_variant | MODIFIER | c.2483+226G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 23/53 | chr12 | 88108840 | ||||||
| chr12:88109003
|
G | A | 1 | a0001c0001t0001g0154 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.2483+63C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 23/53 | chr12 | 88109003 | ||||||
| chr12:88109189
|
G | A | 1 | a0001c0003t0001g0084 | 1 | NA19240.hp1 | splice_region_variant&intron_variant | LOW | c.2368-8C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 22/53 | chr12 | 88109189 | ||||||
| chr12:88109218
|
A | C | 15 | a0001c0003t0001g0074a0001c0003t0001g0075a0001c0003t0002g0073others(12): Show | 15 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(12): Show |
intron_variant | MODIFIER | c.2368-37T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 22/53 | chr12 | 88109218 | ||||||
| chr12:88109235
|
C | T | 2 | a0001c0017t0001g0015a0001c0018t0001g0016 | 2 | HG02559.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.2368-54G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 22/53 | chr12 | 88109235 | ||||||
| chr12:88109260
|
T | C | 1 | a0001c0001t0001g0099 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2368-79A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 22/53 | chr12 | 88109260 | ||||||
| chr12:88109619
|
T | C | 1 | a0001c0003t0001g0215 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.2368-438A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 22/53 | chr12 | 88109619 | ||||||
| chr12:88109690
|
C | T | 6 | a0003c0004t0001g0077a0003c0004t0001g0078a0003c0004t0001g0079others(3): Show | 6 | HG02280.hp1 HG02615.hp2 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.2368-509G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 22/53 | chr12 | 88109690 | ||||||
| chr12:88109705
|
G | A | 1 | a0001c0001t0001g0159 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.2368-524C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 22/53 | chr12 | 88109705 | ||||||
| chr12:88109827
|
T | C | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.2368-646A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 22/53 | chr12 | 88109827 | ||||||
| chr12:88109894
|
G | A | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.2368-713C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 22/53 | chr12 | 88109894 | ||||||
| chr12:88109973
|
C | T | 200 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(197): Show | 217 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(214): Show |
intron_variant | MODIFIER | c.2368-792G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 22/53 | chr12 | 88109973 | ||||||
| chr12:88110013
|
C | A | 1 | a0004c0005t0002g0036 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.2368-832G>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 22/53 | chr12 | 88110013 | ||||||
| chr12:88110199
|
T | C | 1 | a0001c0001t0001g0151 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.2367+1003A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 22/53 | chr12 | 88110199 | ||||||
| chr12:88110483
|
G | A | 75 | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0013others(72): Show | 80 | HG00597.hp1 HG00597.hp2 HG00609.hp2 others(77): Show |
intron_variant | MODIFIER | c.2367+719C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 22/53 | chr12 | 88110483 | ||||||
| chr12:88110531
|
C | T | 1 | a0012c0025t0001g0106 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.2367+671G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 22/53 | chr12 | 88110531 | ||||||
| chr12:88110634
|
A | G | 10 | a0004c0005t0002g0003a0004c0005t0002g0021a0004c0005t0002g0027others(7): Show | 12 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(9): Show |
intron_variant | MODIFIER | c.2367+568T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 22/53 | chr12 | 88110634 | ||||||
| chr12:88110638
|
G | C | 1 | a0001c0001t0001g0102 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.2367+564C>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 22/53 | chr12 | 88110638 | ||||||
| chr12:88111139
|
C | T | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.2367+63G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 22/53 | chr12 | 88111139 | ||||||
| chr12:88111559
|
T | A | 30 | a0001c0003t0001g0074a0001c0003t0001g0075a0001c0003t0001g0215others(27): Show | 32 | HG01109.hp1 HG01175.hp2 HG01192.hp2 others(29): Show |
intron_variant | MODIFIER | c.2217+135A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 21/53 | chr12 | 88111559 | ||||||
| chr12:88112211
|
T | C | 147 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(144): Show | 159 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(156): Show |
intron_variant | MODIFIER | c.2053-353A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 20/53 | chr12 | 88112211 | ||||||
| chr12:88112525
|
G | A | 13 | a0003c0004t0001g0001a0003c0004t0001g0040a0003c0004t0001g0041others(10): Show | 16 | HG02280.hp1 HG02615.hp2 HG02630.hp2 others(13): Show |
intron_variant | MODIFIER | c.2053-667C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 20/53 | chr12 | 88112525 | ||||||
| chr12:88113023
|
C | T | 1 | a0001c0001t0001g0144 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.2053-1165G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 20/53 | chr12 | 88113023 | ||||||
| chr12:88113314
|
T | C | 1 | a0001c0001t0001g0148 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.2052+1106A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 20/53 | chr12 | 88113314 | ||||||
| chr12:88113616
|
C | T | 5 | a0001c0001t0001g0142a0001c0001t0001g0148a0001c0001t0001g0152others(2): Show | 5 | HG02145.hp2 HG02615.hp1 HG02717.hp2 others(2): Show |
intron_variant | MODIFIER | c.2052+804G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 20/53 | chr12 | 88113616 | ||||||
| chr12:88113628
|
T | C | 1 | a0001c0003t0001g0051 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.2052+792A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 20/53 | chr12 | 88113628 | ||||||
| chr12:88113705
|
T | G | 1 | a0001c0003t0001g0075 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.2052+715A>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 20/53 | chr12 | 88113705 | ||||||
| chr12:88113955
|
C | T | 147 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(144): Show | 159 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(156): Show |
intron_variant | MODIFIER | c.2052+465G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 20/53 | chr12 | 88113955 | ||||||
| chr12:88113977
|
T | C | 1 | a0001c0003t0003g0014 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.2052+443A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 20/53 | chr12 | 88113977 | ||||||
| chr12:88114041
|
T | G | 1 | a0002c0002t0001g0214 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.2052+379A>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 20/53 | chr12 | 88114041 | ||||||
| chr12:88114059
|
C | T | 2 | a0001c0003t0001g0074a0001c0003t0001g0075 | 2 | HG02486.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.2052+361G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 20/53 | chr12 | 88114059 | ||||||
| chr12:88114140
|
G | A | 1 | a0001c0003t0001g0057 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.2052+280C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 20/53 | chr12 | 88114140 | ||||||
| chr12:88114152
|
T | C | 11 | a0004c0005t0002g0003a0004c0005t0002g0021a0004c0005t0002g0027others(8): Show | 13 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.2052+268A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 20/53 | chr12 | 88114152 | ||||||
| chr12:88114227
|
G | A | 1 | a0001c0018t0001g0016 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.2052+193C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 20/53 | chr12 | 88114227 | ||||||
| chr12:88114389
|
GA | G | 13 | a0003c0004t0001g0001a0003c0004t0001g0040a0003c0004t0001g0041others(10): Show | 16 | HG02280.hp1 HG02615.hp2 HG02630.hp2 others(13): Show |
intron_variant | MODIFIER | c.2052+30delT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 20/53 | chr12 | 88114389 | ||||||
| chr12:88114769
|
C | T | 11 | a0004c0005t0002g0003a0004c0005t0002g0021a0004c0005t0002g0027others(8): Show | 13 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.1910-207G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 19/53 | chr12 | 88114769 | ||||||
| chr12:88114919
|
C | G | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.1909+179G>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 19/53 | chr12 | 88114919 | ||||||
| chr12:88115193
|
CAG | C | 2 | a0002c0002t0001g0122a0002c0002t0001g0123 | 2 | HG00741.hp1 HG01109.hp2 |
intron_variant | MODIFIER | c.1825-13_1825-12del others(2): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 18/53 | chr12 | 88115193 | ||||||
| chr12:88115347
|
C | T | 1 | a0003c0004t0001g0040 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1825-165G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 18/53 | chr12 | 88115347 | ||||||
| chr12:88115550
|
T | C | 1 | a0001c0020t0001g0052 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1825-368A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 18/53 | chr12 | 88115550 | ||||||
| chr12:88116128
|
T | C | 1 | a0001c0001t0001g0135 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.1824+905A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 18/53 | chr12 | 88116128 | ||||||
| chr12:88116540
|
T | A | 4 | a0008c0011t0001g0017a0008c0011t0001g0018a0008c0011t0001g0019others(1): Show | 4 | HG01884.hp1 HG02647.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.1824+493A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 18/53 | chr12 | 88116540 | ||||||
| chr12:88116665
|
A | C | 147 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(144): Show | 159 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(156): Show |
intron_variant | MODIFIER | c.1824+368T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 18/53 | chr12 | 88116665 | ||||||
| chr12:88116750
|
G | C | 1 | a0002c0002t0001g0140 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.1824+283C>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 18/53 | chr12 | 88116750 | ||||||
| chr12:88116756
|
C | T | 1 | a0001c0001t0001g0149 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1824+277G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 18/53 | chr12 | 88116756 | ||||||
| chr12:88116757
|
G | A | 1 | a0001c0003t0001g0054 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.1824+276C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 18/53 | chr12 | 88116757 | ||||||
| chr12:88116846
|
C | T | 1 | a0001c0017t0001g0015 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1824+187G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 18/53 | chr12 | 88116846 | ||||||
| chr12:88116891
|
A | G | 1 | a0001c0001t0001g0207 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.1824+142T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 18/53 | chr12 | 88116891 | ||||||
| chr12:88116952
|
A | C | 36 | a0001c0003t0001g0074a0001c0003t0001g0075a0001c0003t0001g0215others(33): Show | 38 | HG01109.hp1 HG01175.hp2 HG01192.hp2 others(35): Show |
intron_variant | MODIFIER | c.1824+81T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 18/53 | chr12 | 88116952 | ||||||
| chr12:88116961
|
G | A | 3 | a0009c0010t0001g0023a0009c0010t0001g0024a0009c0010t0001g0025 | 3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1824+72C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 18/53 | chr12 | 88116961 | ||||||
| chr12:88116993
|
A | T | 2 | a0001c0017t0001g0015a0001c0018t0001g0016 | 2 | HG02559.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.1824+40T>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 18/53 | chr12 | 88116993 | ||||||
| chr12:88117273
|
C | T | 1 | a0001c0008t0001g0161 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.1712-128G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 17/53 | chr12 | 88117273 | ||||||
| chr12:88117282
|
A | G | 1 | a0001c0019t0001g0085 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1712-137T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 17/53 | chr12 | 88117282 | ||||||
| chr12:88117601
|
T | C | 16 | a0001c0003t0001g0074a0001c0003t0001g0075a0001c0003t0001g0215others(13): Show | 16 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(13): Show |
intron_variant | MODIFIER | c.1712-456A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 17/53 | chr12 | 88117601 | ||||||
| chr12:88117908
|
C | T | 6 | a0003c0004t0001g0001a0003c0004t0001g0040a0003c0004t0001g0041others(3): Show | 9 | HG02630.hp2 HG02717.hp1 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.1711+575G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 17/53 | chr12 | 88117908 | ||||||
| chr12:88118117
|
G | A | 1 | a0001c0001t0001g0189 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.1711+366C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 17/53 | chr12 | 88118117 | ||||||
| chr12:88118575
|
A | G | 4 | a0008c0011t0001g0017a0008c0011t0001g0018a0008c0011t0001g0019others(1): Show | 4 | HG01884.hp1 HG02647.hp1 HG02895.hp1 others(1): Show |
splice_region_variant&intron_variant | LOW | c.1624-5T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 16/53 | chr12 | 88118575 | ||||||
| chr12:88118905
|
C | T | 3 | a0009c0010t0001g0023a0009c0010t0001g0024a0009c0010t0001g0025 | 3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1523-162G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 15/53 | chr12 | 88118905 | ||||||
| chr12:88119002
|
T | C | 1 | a0008c0011t0001g0018 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1523-259A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 15/53 | chr12 | 88119002 | ||||||
| chr12:88119062
|
TGGCTGTG others(25): Show |
T | 11 | a0004c0005t0002g0003a0004c0005t0002g0021a0004c0005t0002g0027others(8): Show | 13 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.1523-351_1523-320d others(34): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 15/53 | chr12 | 88119062 | ||||||
| chr12:88119186
|
T | A | 1 | a0011c0026t0001g0090 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.1523-443A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 15/53 | chr12 | 88119186 | ||||||
| chr12:88119498
|
T | C | 1 | a0001c0003t0001g0060 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1522+616A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 15/53 | chr12 | 88119498 | ||||||
| chr12:88119526
|
C | T | 3 | a0009c0010t0001g0023a0009c0010t0001g0024a0009c0010t0001g0025 | 3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1522+588G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 15/53 | chr12 | 88119526 | ||||||
| chr12:88119568
|
G | A | 1 | a0001c0001t0001g0104 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.1522+546C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 15/53 | chr12 | 88119568 | ||||||
| chr12:88119628
|
A | T | 1 | a0006c0007t0001g0127 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.1522+486T>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 15/53 | chr12 | 88119628 | ||||||
| chr12:88119785
|
A | G | 30 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0010others(27): Show | 33 | HG00099.hp1 HG00099.hp2 HG00639.hp2 others(30): Show |
intron_variant | MODIFIER | c.1522+329T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 15/53 | chr12 | 88119785 | ||||||
| chr12:88120055
|
TA | T | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.1522+58delT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 15/53 | chr12 | 88120055 | ||||||
| chr12:88120341
|
T | A | 19 | a0001c0001t0001g0022a0001c0001t0001g0026a0001c0001t0001g0029others(16): Show | 21 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(18): Show |
intron_variant | MODIFIER | c.1360-65A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 14/53 | chr12 | 88120341 | ||||||
| chr12:88120414
|
T | C | 1 | a0001c0003t0001g0057 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1360-138A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 14/53 | chr12 | 88120414 | ||||||
| chr12:88120524
|
TAA | T | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.1360-250_1360-249d others(4): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 14/53 | chr12 | 88120524 | ||||||
| chr12:88120560
|
A | G | 1 | a0001c0001t0001g0103 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1360-284T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 14/53 | chr12 | 88120560 | ||||||
| chr12:88120645
|
G | A | 2 | a0001c0017t0001g0015a0001c0018t0001g0016 | 2 | HG02559.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.1359+352C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 14/53 | chr12 | 88120645 | ||||||
| chr12:88121382
|
T | C | 1 | a0001c0020t0001g0052 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1190-216A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88121382 | ||||||
| chr12:88121495
|
A | G | 3 | a0009c0010t0001g0023a0009c0010t0001g0024a0009c0010t0001g0025 | 3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1190-329T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88121495 | ||||||
| chr12:88121510
|
C | T | 2 | a0001c0001t0001g0209a0001c0001t0001g0210 | 2 | HG02486.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.1190-344G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88121510 | ||||||
| chr12:88121613
|
CA | C | 122 | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0013others(119): Show | 131 | HG00597.hp1 HG00597.hp2 HG00609.hp1 others(128): Show |
intron_variant | MODIFIER | c.1190-448delT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88121613 | ||||||
| chr12:88121613
|
CAA | C | 29 | a0001c0001t0001g0131a0001c0001t0001g0195a0001c0003t0001g0074others(26): Show | 31 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(28): Show |
intron_variant | MODIFIER | c.1190-449_1190-448d others(4): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88121613 | ||||||
| chr12:88121631
|
T | A | 1 | a0001c0001t0001g0135 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.1190-465A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88121631 | ||||||
| chr12:88122085
|
G | A | 12 | a0005c0006t0001g0062a0005c0006t0001g0063a0005c0006t0001g0064others(9): Show | 12 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(9): Show |
intron_variant | MODIFIER | c.1190-919C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88122085 | ||||||
| chr12:88122165
|
G | C | 147 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(144): Show | 159 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(156): Show |
intron_variant | MODIFIER | c.1190-999C>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88122165 | ||||||
| chr12:88122672
|
A | G | 2 | a0001c0001t0001g0160a0001c0001t0001g0197 | 2 | HG01175.hp1 HG03704.hp2 |
intron_variant | MODIFIER | c.1190-1506T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88122672 | ||||||
| chr12:88122705
|
G | A | 18 | a0001c0003t0001g0074a0001c0003t0001g0075a0001c0003t0002g0073others(15): Show | 18 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(15): Show |
intron_variant | MODIFIER | c.1190-1539C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88122705 | ||||||
| chr12:88122740
|
G | T | 11 | a0004c0005t0002g0003a0004c0005t0002g0021a0004c0005t0002g0027others(8): Show | 13 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.1190-1574C>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88122740 | ||||||
| chr12:88122784
|
C | T | 1 | a0005c0006t0001g0064 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.1190-1618G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88122784 | ||||||
| chr12:88122810
|
G | A | 1 | a0001c0001t0001g0100 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.1190-1644C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88122810 | ||||||
| chr12:88122832
|
C | G | 19 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0010others(16): Show | 22 | HG00099.hp2 HG00639.hp2 HG00642.hp1 others(19): Show |
intron_variant | MODIFIER | c.1190-1666G>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88122832 | ||||||
| chr12:88123044
|
G | A | 139 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(136): Show | 151 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(148): Show |
intron_variant | MODIFIER | c.1190-1878C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88123044 | ||||||
| chr12:88123219
|
T | C | 4 | a0001c0003t0001g0057a0001c0003t0001g0058a0001c0003t0001g0059others(1): Show | 4 | HG03209.hp1 HG03540.hp1 NA19240.hp1 others(1): Show |
intron_variant | MODIFIER | c.1189+2027A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88123219 | ||||||
| chr12:88123390
|
C | T | 4 | a0008c0011t0001g0017a0008c0011t0001g0018a0008c0011t0001g0019others(1): Show | 4 | HG01884.hp1 HG02647.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.1189+1856G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88123390 | ||||||
| chr12:88123504
|
C | G | 14 | a0004c0005t0002g0003a0004c0005t0002g0021a0004c0005t0002g0027others(11): Show | 16 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(13): Show |
intron_variant | MODIFIER | c.1189+1742G>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88123504 | ||||||
| chr12:88123587
|
T | C | 12 | a0005c0006t0001g0062a0005c0006t0001g0063a0005c0006t0001g0064others(9): Show | 12 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(9): Show |
intron_variant | MODIFIER | c.1189+1659A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88123587 | ||||||
| chr12:88123843
|
T | C | 3 | a0005c0006t0001g0071a0005c0006t0001g0072a0006c0007t0001g0124 | 3 | HG01175.hp2 HG01255.hp1 HG02145.hp1 |
intron_variant | MODIFIER | c.1189+1403A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88123843 | ||||||
| chr12:88124060
|
T | C | 1 | a0001c0001t0001g0192 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.1189+1186A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88124060 | ||||||
| chr12:88124329
|
C | T | 7 | a0003c0004t0001g0077a0003c0004t0001g0078a0003c0004t0001g0079others(4): Show | 7 | HG02280.hp1 HG02615.hp2 HG02895.hp2 others(4): Show |
intron_variant | MODIFIER | c.1189+917G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88124329 | ||||||
| chr12:88124486
|
A | G | 3 | a0009c0010t0001g0023a0009c0010t0001g0024a0009c0010t0001g0025 | 3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1189+760T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88124486 | ||||||
| chr12:88124494
|
G | A | 1 | a0001c0001t0001g0193 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.1189+752C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88124494 | ||||||
| chr12:88124501
|
G | A | 1 | a0001c0001t0001g0194 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.1189+745C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88124501 | ||||||
| chr12:88124569
|
T | C | 16 | a0001c0003t0001g0074a0001c0003t0001g0075a0001c0003t0001g0215others(13): Show | 16 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(13): Show |
intron_variant | MODIFIER | c.1189+677A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88124569 | ||||||
| chr12:88124602
|
TGAA | T | 8 | a0001c0001t0001g0131a0001c0001t0001g0155a0001c0001t0001g0156others(5): Show | 8 | HG01099.hp1 HG02004.hp1 HG02135.hp1 others(5): Show |
intron_variant | MODIFIER | c.1189+641_1189+643d others(5): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88124602 | ||||||
| chr12:88124897
|
C | T | 1 | a0001c0003t0001g0215 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1189+349G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88124897 | ||||||
| chr12:88124989
|
T | G | 19 | a0001c0001t0001g0022a0001c0001t0001g0026a0001c0001t0001g0029others(16): Show | 21 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(18): Show |
intron_variant | MODIFIER | c.1189+257A>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88124989 | ||||||
| chr12:88125155
|
A | G | 6 | a0003c0004t0001g0001a0003c0004t0001g0040a0003c0004t0001g0041others(3): Show | 9 | HG02630.hp2 HG02717.hp1 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.1189+91T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88125155 | ||||||
| chr12:88125196
|
T | C | 1 | a0002c0002t0001g0125 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.1189+50A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88125196 | ||||||
| chr12:88125569
|
T | C | 12 | a0006c0007t0001g0086a0006c0007t0001g0087a0006c0007t0001g0089others(9): Show | 12 | HG00609.hp1 HG01106.hp2 HG02004.hp2 others(9): Show |
intron_variant | MODIFIER | c.1066-200A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 12/53 | chr12 | 88125569 | ||||||
| chr12:88125624
|
A | G | 183 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(180): Show | 197 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(194): Show |
intron_variant | MODIFIER | c.1066-255T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 12/53 | chr12 | 88125624 | ||||||
| chr12:88125748
|
T | G | 1 | a0001c0001t0001g0105 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.1066-379A>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 12/53 | chr12 | 88125748 | ||||||
| chr12:88125757
|
T | C | 1 | a0002c0002t0001g0214 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.1066-388A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 12/53 | chr12 | 88125757 | ||||||
| chr12:88125768
|
G | A | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.1066-399C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 12/53 | chr12 | 88125768 | ||||||
| chr12:88125833
|
T | C | 12 | a0006c0007t0001g0086a0006c0007t0001g0087a0006c0007t0001g0089others(9): Show | 12 | HG00609.hp1 HG01106.hp2 HG02004.hp2 others(9): Show |
intron_variant | MODIFIER | c.1066-464A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 12/53 | chr12 | 88125833 | ||||||
| chr12:88125862
|
C | A | 1 | a0003c0004t0001g0040 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1065+454G>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 12/53 | chr12 | 88125862 | ||||||
| chr12:88126606
|
T | C | 1 | a0007c0012t0001g0053 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.943-168A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | 88126606 | ||||||
| chr12:88126651
|
C | T | 183 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(180): Show | 197 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(194): Show |
intron_variant | MODIFIER | c.943-213G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | 88126651 | ||||||
| chr12:88126995
|
G | A | 2 | a0001c0001t0001g0145a0001c0001t0001g0204 | 2 | HG02155.hp2 NA19091.hp1 |
intron_variant | MODIFIER | c.943-557C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | 88126995 | ||||||
| chr12:88127041
|
T | C | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.943-603A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | 88127041 | ||||||
| chr12:88127043
|
CACAAATT others(3): Show |
C | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.943-615_943-606del others(10): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | 88127043 | ||||||
| chr12:88127094
|
A | AAAAGAGA others(62): Show |
183 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(180): Show | 197 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(194): Show |
intron_variant | MODIFIER | c.943-657_943-656ins others(69): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | 88127094 | ||||||
| chr12:88127146
|
A | C | 183 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(180): Show | 197 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(194): Show |
intron_variant | MODIFIER | c.943-708T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | 88127146 | ||||||
| chr12:88127189
|
G | A | 6 | a0003c0004t0001g0001a0003c0004t0001g0040a0003c0004t0001g0041others(3): Show | 9 | HG02630.hp2 HG02717.hp1 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.943-751C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | 88127189 | ||||||
| chr12:88127206
|
A | G | 1 | a0001c0001t0001g0012 | 2 | NA18747.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.943-768T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | 88127206 | ||||||
| chr12:88127242
|
C | G | 5 | a0003c0004t0001g0077a0003c0004t0001g0078a0003c0004t0001g0079others(2): Show | 5 | HG02280.hp1 HG02615.hp2 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.943-804G>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | 88127242 | ||||||
| chr12:88127354
|
G | A | 3 | a0009c0010t0001g0023a0009c0010t0001g0024a0009c0010t0001g0025 | 3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.943-916C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | 88127354 | ||||||
| chr12:88127386
|
G | A | 1 | a0005c0006t0001g0062 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.943-948C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | 88127386 | ||||||
| chr12:88127593
|
T | A | 1 | a0001c0001t0001g0195 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.943-1155A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | 88127593 | ||||||
| chr12:88127897
|
C | T | 5 | a0001c0001t0001g0142a0001c0001t0001g0148a0001c0001t0001g0152others(2): Show | 5 | HG02145.hp2 HG02615.hp1 HG02717.hp2 others(2): Show |
intron_variant | MODIFIER | c.942+1049G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | 88127897 | ||||||
| chr12:88127925
|
T | G | 1 | a0001c0001t0001g0196 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.942+1021A>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | 88127925 | ||||||
| chr12:88128081
|
G | A | 4 | a0008c0011t0001g0017a0008c0011t0001g0018a0008c0011t0001g0019others(1): Show | 4 | HG01884.hp1 HG02647.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.942+865C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | 88128081 | ||||||
| chr12:88128108
|
G | A | 4 | a0008c0011t0001g0017a0008c0011t0001g0018a0008c0011t0001g0019others(1): Show | 4 | HG01884.hp1 HG02647.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.942+838C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | 88128108 | ||||||
| chr12:88128130
|
T | C | 1 | a0001c0001t0001g0197 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.942+816A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | 88128130 | ||||||
| chr12:88128162
|
C | G | 1 | a0006c0007t0001g0087 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.942+784G>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | 88128162 | ||||||
| chr12:88128372
|
T | C | 1 | a0001c0003t0001g0054 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.942+574A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | 88128372 | ||||||
| chr12:88128675
|
T | C | 147 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(144): Show | 159 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(156): Show |
intron_variant | MODIFIER | c.942+271A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | 88128675 | ||||||
| chr12:88128918
|
A | G | 8 | a0004c0005t0002g0003a0004c0005t0002g0027a0004c0005t0002g0028others(5): Show | 10 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(7): Show |
intron_variant | MODIFIER | c.942+28T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | 88128918 | ||||||
| chr12:88129046
|
A | AC | 183 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(180): Show | 197 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(194): Show |
intron_variant | MODIFIER | c.853-12_853-11insG | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 10/53 | chr12 | 88129046 | ||||||
| chr12:88129159
|
C | CTTA | 196 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(193): Show | 213 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(210): Show |
intron_variant | MODIFIER | c.853-127_853-125dup others(3): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 10/53 | chr12 | 88129159 | ||||||
| chr12:88129177
|
C | T | 1 | a0005c0006t0001g0063 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.853-142G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 10/53 | chr12 | 88129177 | ||||||
| chr12:88129232
|
G | C | 3 | a0009c0010t0001g0023a0009c0010t0001g0024a0009c0010t0001g0025 | 3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.853-197C>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 10/53 | chr12 | 88129232 | ||||||
| chr12:88129311
|
T | C | 1 | a0001c0003t0001g0046 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.853-276A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 10/53 | chr12 | 88129311 | ||||||
| chr12:88129370
|
C | T | 201 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(198): Show | 218 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(215): Show |
intron_variant | MODIFIER | c.852+324G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 10/53 | chr12 | 88129370 | ||||||
| chr12:88129470
|
A | C | 1 | a0001c0001t0001g0152 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.852+224T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 10/53 | chr12 | 88129470 | ||||||
| chr12:88129502
|
T | C | 1 | a0007c0012t0001g0055 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.852+192A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 10/53 | chr12 | 88129502 | ||||||
| chr12:88129621
|
T | C | 11 | a0004c0005t0002g0003a0004c0005t0002g0021a0004c0005t0002g0027others(8): Show | 13 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.852+73A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 10/53 | chr12 | 88129621 | ||||||
| chr12:88129661
|
G | A | 1 | a0001c0001t0001g0198 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.852+33C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 10/53 | chr12 | 88129661 | ||||||
| chr12:88129992
|
T | C | 29 | a0001c0001t0001g0137a0001c0001t0001g0138a0002c0002t0001g0005others(26): Show | 33 | HG00741.hp1 HG01074.hp1 HG01081.hp2 others(30): Show |
intron_variant | MODIFIER | c.670-116A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 9/53 | chr12 | 88129992 | ||||||
| chr12:88130101
|
C | T | 1 | a0001c0019t0001g0085 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.669+167G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 9/53 | chr12 | 88130101 | ||||||
| chr12:88130200
|
T | C | 1 | a0001c0001t0001g0210 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.669+68A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 9/53 | chr12 | 88130200 | ||||||
| chr12:88130248
|
T | C | 1 | a0002c0002t0001g0200 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.669+20A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 9/53 | chr12 | 88130248 | ||||||
| chr12:88130475
|
C | T | 1 | a0004c0005t0002g0031 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.517-55G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 8/53 | chr12 | 88130475 | ||||||
| chr12:88130671
|
T | C | 2 | a0003c0004t0001g0043a0003c0004t0001g0044 | 2 | HG02630.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.496-106A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 7/53 | chr12 | 88130671 | ||||||
| chr12:88130683
|
T | G | 1 | a0001c0003t0001g0215 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.496-118A>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 7/53 | chr12 | 88130683 | ||||||
| chr12:88130726
|
A | G | 1 | a0005c0006t0001g0062 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.496-161T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 7/53 | chr12 | 88130726 | ||||||
| chr12:88130760
|
T | C | 1 | a0001c0003t0001g0215 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.496-195A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 7/53 | chr12 | 88130760 | ||||||
| chr12:88130834
|
C | A | 30 | a0001c0003t0001g0074a0001c0003t0001g0075a0001c0003t0001g0215others(27): Show | 32 | HG01109.hp1 HG01175.hp2 HG01192.hp2 others(29): Show |
intron_variant | MODIFIER | c.496-269G>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 7/53 | chr12 | 88130834 | ||||||
| chr12:88131090
|
T | C | 1 | a0001c0001t0001g0126 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.495+75A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 7/53 | chr12 | 88131090 | ||||||
| chr12:88131228
|
T | TA | 16 | a0001c0001t0001g0205a0001c0001t0001g0206a0001c0017t0001g0015others(13): Show | 16 | HG00609.hp1 HG01884.hp1 HG02080.hp1 others(13): Show |
intron_variant | MODIFIER | c.442-11dupT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88131228 | ||||||
| chr12:88131237
|
A | T | 19 | a0001c0001t0001g0130a0001c0003t0001g0074a0001c0003t0001g0075others(16): Show | 19 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(16): Show |
intron_variant | MODIFIER | c.442-19T>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88131237 | ||||||
| chr12:88131271
|
AT | A | 175 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(172): Show | 189 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(186): Show |
intron_variant | MODIFIER | c.442-54delA | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88131271 | ||||||
| chr12:88131303
|
G | A | 16 | a0001c0003t0001g0074a0001c0003t0001g0075a0001c0003t0001g0215others(13): Show | 16 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(13): Show |
intron_variant | MODIFIER | c.442-85C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88131303 | ||||||
| chr12:88131404
|
T | C | 1 | a0001c0008t0001g0202 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.442-186A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88131404 | ||||||
| chr12:88131452
|
G | A | 2 | a0008c0011t0001g0019a0015c0021t0001g0020 | 2 | HG02647.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.442-234C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88131452 | ||||||
| chr12:88131468
|
A | G | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.442-250T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88131468 | ||||||
| chr12:88131812
|
C | T | 3 | a0009c0010t0001g0023a0009c0010t0001g0024a0009c0010t0001g0025 | 3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.442-594G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88131812 | ||||||
| chr12:88131967
|
G | A | 1 | a0003c0004t0001g0083 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.442-749C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88131967 | ||||||
| chr12:88132267
|
G | C | 4 | a0008c0011t0001g0017a0008c0011t0001g0018a0008c0011t0001g0019others(1): Show | 4 | HG01884.hp1 HG02647.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.442-1049C>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88132267 | ||||||
| chr12:88132285
|
G | A | 8 | a0004c0005t0002g0003a0004c0005t0002g0027a0004c0005t0002g0028others(5): Show | 10 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(7): Show |
intron_variant | MODIFIER | c.442-1067C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88132285 | ||||||
| chr12:88132829
|
C | G | 1 | a0001c0001t0001g0151 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.442-1611G>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88132829 | ||||||
| chr12:88133001
|
G | C | 1 | a0001c0003t0001g0056 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.442-1783C>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88133001 | ||||||
| chr12:88133035
|
C | T | 16 | a0001c0003t0001g0074a0001c0003t0001g0075a0001c0003t0001g0215others(13): Show | 16 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(13): Show |
intron_variant | MODIFIER | c.442-1817G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88133035 | ||||||
| chr12:88133069
|
C | T | 2 | a0004c0005t0002g0021a0004c0005t0004g0216 | 2 | HG03579.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.442-1851G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88133069 | ||||||
| chr12:88133072
|
G | GT | 10 | a0001c0001t0001g0142a0001c0001t0001g0148a0001c0001t0001g0149others(7): Show | 11 | HG01243.hp1 HG01243.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.442-1855dupA | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88133072 | ||||||
| chr12:88133072
|
G | T | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.442-1854C>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88133072 | ||||||
| chr12:88133072
|
GT | G | 8 | a0001c0001t0001g0203a0001c0001t0001g0204a0001c0001t0001g0206others(5): Show | 8 | HG01099.hp1 HG02257.hp2 HG02683.hp1 others(5): Show |
intron_variant | MODIFIER | c.442-1855delA | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88133072 | ||||||
| chr12:88133072
|
GTTTTTTT others(1): Show |
G | 12 | a0005c0006t0001g0062a0005c0006t0001g0063a0005c0006t0001g0064others(9): Show | 12 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(9): Show |
intron_variant | MODIFIER | c.442-1862_442-1855d others(10): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88133072 | ||||||
| chr12:88133108
|
T | C | 201 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(198): Show | 218 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(215): Show |
intron_variant | MODIFIER | c.442-1890A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88133108 | ||||||
| chr12:88133138
|
C | T | 1 | a0003c0004t0001g0040 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.442-1920G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88133138 | ||||||
| chr12:88133306
|
T | G | 1 | a0001c0003t0001g0046 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.442-2088A>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88133306 | ||||||
| chr12:88133378
|
C | T | 1 | a0009c0010t0001g0023 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.442-2160G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88133378 | ||||||
| chr12:88133403
|
T | C | 1 | a0001c0003t0001g0215 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.442-2185A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88133403 | ||||||
| chr12:88133625
|
G | A | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.442-2407C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88133625 | ||||||
| chr12:88134208
|
T | C | 2 | a0001c0001t0001g0205a0001c0001t0001g0206 | 2 | HG03239.hp2 HG04228.hp2 |
intron_variant | MODIFIER | c.441+2435A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88134208 | ||||||
| chr12:88134216
|
T | C | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.441+2427A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88134216 | ||||||
| chr12:88134576
|
T | C | 2 | a0001c0017t0001g0015a0001c0018t0001g0016 | 2 | HG02559.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.441+2067A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88134576 | ||||||
| chr12:88134652
|
C | T | 13 | a0003c0004t0001g0001a0003c0004t0001g0040a0003c0004t0001g0041others(10): Show | 16 | HG02280.hp1 HG02615.hp2 HG02630.hp2 others(13): Show |
intron_variant | MODIFIER | c.441+1991G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88134652 | ||||||
| chr12:88134658
|
C | T | 1 | a0001c0003t0001g0046 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.441+1985G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88134658 | ||||||
| chr12:88135239
|
T | C | 15 | a0001c0003t0001g0074a0001c0003t0001g0075a0001c0003t0002g0073others(12): Show | 15 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(12): Show |
intron_variant | MODIFIER | c.441+1404A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88135239 | ||||||
| chr12:88135349
|
A | AC | 12 | a0005c0006t0001g0062a0005c0006t0001g0063a0005c0006t0001g0064others(9): Show | 12 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(9): Show |
intron_variant | MODIFIER | c.441+1293_441+1294i others(3): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88135349 | ||||||
| chr12:88135350
|
A | G | 12 | a0005c0006t0001g0062a0005c0006t0001g0063a0005c0006t0001g0064others(9): Show | 12 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(9): Show |
intron_variant | MODIFIER | c.441+1293T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88135350 | ||||||
| chr12:88135529
|
G | A | 19 | a0001c0001t0001g0022a0001c0001t0001g0026a0001c0001t0001g0029others(16): Show | 21 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(18): Show |
intron_variant | MODIFIER | c.441+1114C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88135529 | ||||||
| chr12:88135546
|
C | T | 2 | a0001c0001t0001g0146a0001c0001t0001g0147 | 2 | NA19058.hp2 NA19077.hp2 |
intron_variant | MODIFIER | c.441+1097G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88135546 | ||||||
| chr12:88135550
|
C | T | 1 | a0008c0011t0001g0017 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.441+1093G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88135550 | ||||||
| chr12:88135665
|
C | T | 16 | a0001c0003t0001g0074a0001c0003t0001g0075a0001c0003t0001g0215others(13): Show | 16 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(13): Show |
intron_variant | MODIFIER | c.441+978G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88135665 | ||||||
| chr12:88136197
|
A | G | 1 | a0005c0015t0001g0061 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.441+446T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88136197 | ||||||
| chr12:88136267
|
A | C | 1 | a0001c0003t0002g0073 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.441+376T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88136267 | ||||||
| chr12:88136830
|
T | C | 1 | a0001c0001t0001g0207 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.298-44A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88136830 | ||||||
| chr12:88136870
|
T | C | 1 | a0005c0006t0001g0072 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.298-84A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88136870 | ||||||
| chr12:88136929
|
CT | C | 24 | a0001c0001t0001g0010a0001c0001t0001g0130a0001c0001t0001g0131others(21): Show | 25 | HG00099.hp1 HG00099.hp2 HG01071.hp1 others(22): Show |
intron_variant | MODIFIER | c.298-144delA | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88136929 | ||||||
| chr12:88137066
|
C | T | 1 | a0001c0001t0001g0143 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.298-280G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88137066 | ||||||
| chr12:88137087
|
G | A | 5 | a0001c0001t0001g0026a0001c0001t0001g0037a0001c0001t0001g0038others(2): Show | 5 | HG02451.hp1 HG02647.hp2 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.298-301C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88137087 | ||||||
| chr12:88137282
|
C | T | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.298-496G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88137282 | ||||||
| chr12:88137414
|
C | T | 1 | a0001c0001t0001g0145 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.298-628G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88137414 | ||||||
| chr12:88137430
|
G | A | 16 | a0001c0003t0001g0074a0001c0003t0001g0075a0001c0003t0001g0215others(13): Show | 16 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(13): Show |
intron_variant | MODIFIER | c.298-644C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88137430 | ||||||
| chr12:88137447
|
C | T | 4 | a0008c0011t0001g0017a0008c0011t0001g0018a0008c0011t0001g0019others(1): Show | 4 | HG01884.hp1 HG02647.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.298-661G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88137447 | ||||||
| chr12:88137459
|
T | C | 15 | a0001c0003t0001g0074a0001c0003t0001g0075a0001c0003t0002g0073others(12): Show | 15 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(12): Show |
intron_variant | MODIFIER | c.298-673A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88137459 | ||||||
| chr12:88137660
|
C | A | 1 | a0001c0001t0001g0211 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.298-874G>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88137660 | ||||||
| chr12:88137694
|
C | T | 16 | a0001c0003t0001g0074a0001c0003t0001g0075a0001c0003t0001g0215others(13): Show | 16 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(13): Show |
intron_variant | MODIFIER | c.298-908G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88137694 | ||||||
| chr12:88137738
|
A | G | 1 | a0001c0001t0001g0026 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.298-952T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88137738 | ||||||
| chr12:88137786
|
G | A | 6 | a0001c0001t0001g0137a0001c0001t0001g0138a0002c0002t0001g0011others(3): Show | 7 | NA18957.hp2 NA18975.hp2 NA18982.hp1 others(4): Show |
intron_variant | MODIFIER | c.298-1000C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88137786 | ||||||
| chr12:88137805
|
G | C | 19 | a0001c0001t0001g0022a0001c0001t0001g0026a0001c0001t0001g0029others(16): Show | 21 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(18): Show |
intron_variant | MODIFIER | c.298-1019C>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88137805 | ||||||
| chr12:88137939
|
C | T | 196 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(193): Show | 213 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(210): Show |
intron_variant | MODIFIER | c.298-1153G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88137939 | ||||||
| chr12:88137953
|
G | T | 4 | a0008c0011t0001g0017a0008c0011t0001g0018a0008c0011t0001g0019others(1): Show | 4 | HG01884.hp1 HG02647.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.298-1167C>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88137953 | ||||||
| chr12:88138161
|
T | C | 1 | a0001c0003t0001g0060 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.297+984A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88138161 | ||||||
| chr12:88138269
|
C | T | 4 | a0006c0007t0001g0087a0006c0007t0001g0089a0011c0026t0001g0090others(1): Show | 4 | HG00609.hp1 HG02080.hp1 HG03710.hp2 others(1): Show |
intron_variant | MODIFIER | c.297+876G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88138269 | ||||||
| chr12:88138292
|
A | G | 1 | a0001c0001t0001g0022 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.297+853T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88138292 | ||||||
| chr12:88138640
|
C | T | 183 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(180): Show | 197 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(194): Show |
intron_variant | MODIFIER | c.297+505G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88138640 | ||||||
| chr12:88138785
|
C | T | 2 | a0001c0017t0001g0015a0001c0018t0001g0016 | 2 | HG02559.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.297+360G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88138785 | ||||||
| chr12:88138831
|
A | G | 1 | a0001c0003t0001g0215 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.297+314T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88138831 | ||||||
| chr12:88139014
|
A | G | 2 | a0004c0005t0002g0021a0004c0005t0004g0216 | 2 | HG03579.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.297+131T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88139014 | ||||||
| chr12:88139109
|
T | C | 15 | a0001c0003t0001g0074a0001c0003t0001g0075a0001c0003t0002g0073others(12): Show | 15 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(12): Show |
intron_variant | MODIFIER | c.297+36A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88139109 | ||||||
| chr12:88139201
|
T | A | 3 | a0001c0001t0001g0209a0001c0001t0001g0210a0001c0001t0001g0211 | 3 | HG02486.hp1 HG02818.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.251-10A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 4/53 | chr12 | 88139201 | ||||||
| chr12:88139202
|
A | T | 1 | a0001c0001t0001g0144 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.251-11T>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 4/53 | chr12 | 88139202 | ||||||
| chr12:88139284
|
T | C | 3 | a0001c0003t0001g0074a0001c0003t0001g0075a0001c0003t0002g0073 | 3 | HG02486.hp2 HG03209.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.251-93A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 4/53 | chr12 | 88139284 | ||||||
| chr12:88139813
|
C | T | 6 | a0001c0017t0001g0015a0001c0018t0001g0016a0008c0011t0001g0017others(3): Show | 6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.181-249G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 3/53 | chr12 | 88139813 | ||||||
| chr12:88139816
|
C | T | 1 | a0001c0019t0001g0085 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.181-252G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 3/53 | chr12 | 88139816 | ||||||
| chr12:88139852
|
C | T | 1 | a0001c0001t0001g0143 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.181-288G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 3/53 | chr12 | 88139852 | ||||||
| chr12:88140201
|
C | T | 1 | a0001c0001t0001g0142 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.181-637G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 3/53 | chr12 | 88140201 | ||||||
| chr12:88140243
|
G | A | 1 | a0001c0001t0001g0076 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.181-679C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 3/53 | chr12 | 88140243 | ||||||
| chr12:88140341
|
T | C | 1 | a0001c0001t0001g0212 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.180+615A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 3/53 | chr12 | 88140341 | ||||||
| chr12:88140349
|
C | T | 5 | a0003c0004t0001g0077a0003c0004t0001g0078a0003c0004t0001g0079others(2): Show | 5 | HG02280.hp1 HG02615.hp2 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.180+607G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 3/53 | chr12 | 88140349 | ||||||
| chr12:88140669
|
A | G | 1 | a0006c0007t0001g0086 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.180+287T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 3/53 | chr12 | 88140669 | ||||||
| chr12:88140889
|
T | C | 1 | a0002c0002t0001g0141 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.180+67A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 3/53 | chr12 | 88140889 | ||||||
| chr12:88141390
|
T | G | 7 | a0003c0004t0001g0077a0003c0004t0001g0078a0003c0004t0001g0079others(4): Show | 7 | HG02280.hp1 HG02615.hp2 HG02895.hp2 others(4): Show |
intron_variant | MODIFIER | c.-27-56A>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 1/53 | chr12 | 88141390 | ||||||
| chr12:88141405
|
T | C | 1 | a0001c0003t0001g0084 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.-27-71A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 1/53 | chr12 | 88141405 | ||||||
| chr12:88141521
|
C | CA | 74 | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0013others(71): Show | 79 | HG00597.hp1 HG00597.hp2 HG00609.hp2 others(76): Show |
intron_variant | MODIFIER | c.-27-188dupT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 1/53 | chr12 | 88141521 | ||||||
| chr12:88141758
|
C | A | 1 | a0001c0019t0001g0085 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.-28+142G>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 1/53 | chr12 | 88141758 | ||||||
| chr12:88141799
|
G | A | 139 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(136): Show | 151 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(148): Show |
intron_variant | MODIFIER | c.-28+101C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 1/53 | chr12 | 88141799 | ||||||
| chr12:88141810
|
G | A | 1 | a0001c0001t0001g0213 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.-28+90C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 1/53 | chr12 | 88141810 | ||||||
| chr12:88141820
|
T | C | 1 | a0002c0002t0001g0214 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.-28+80A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 1/53 | chr12 | 88141820 | ||||||
| chr12:88141834
|
G | A | 1 | a0001c0003t0001g0215 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-28+66C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 1/53 | chr12 | 88141834 |