Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 1080 |
|---|---|
| ensemblid | ENSG00000001626.18 |
| hgncid | 1884 |
| symbol | CFTR |
| name | CF transmembrane conductance regulator |
| refseq_nuc | NM_000492.4 |
| refseq_prot | NP_000483.3 |
| ensembl_nuc | ENST00000003084.11 |
| ensembl_prot | ENSP00000003084.6 |
| mane_status | MANE Select |
| chr | chr7 |
| start | 117480025 |
| end | 117668665 |
| strand | + |
| ver | v1.2 |
| region | chr7:117480025-117668665 |
| region5000 | chr7:117475025-117673665 |
| regionname0 | CFTR_chr7_117480025_117668665 |
| regionname5000 | CFTR_chr7_117475025_117673665 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/1 | 1480 | 127 | 60 | 19 | 31 | 4 | 12 | 23 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0002 | 1/0 | 1480 | 55 | 4 | 10 | 28 | 4 | 8 | 21 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0003 | 0/0 | 1480 | 4 | 0 | 0 | 4 | 0 | 0 | 3 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0004 | 0/0 | 1480 | 2 | 0 | 0 | 1 | 1 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0005 | 0/0 | 1480 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0006 | 0/0 | 1480 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0007 | 0/0 | 1480 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0008 | 0/0 | 1480 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0009 | 0/0 | 1480 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0010 | 0/0 | 1480 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0011 | 0/0 | 1480 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0012 | 0/0 | 1480 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0013 | 0/0 | 1480 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0014 | 0/0 | 1480 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0015 | 0/0 | 1480 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0016 | 0/0 | 1480 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0017 | 0/0 | 1480 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| chapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 0/0 | 4443 | 65 | 27 | 4 | 28 | 1 | 5 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| c0002 | 1/0 | 4443 | 52 | 3 | 9 | 28 | 3 | 8 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| c0003 | 0/0 | 4443 | 22 | 7 | 7 | 2 | 1 | 5 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| c0004 | 0/1 | 4443 | 22 | 13 | 6 | 0 | 2 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| c0005 | 0/0 | 4443 | 7 | 6 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| c0006 | 0/0 | 4443 | 7 | 6 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| c0007 | 0/0 | 4443 | 4 | 0 | 0 | 4 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| c0008 | 0/0 | 4443 | 2 | 0 | 2 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| c0009 | 0/0 | 4443 | 2 | 2 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| c0010 | 0/0 | 4443 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| c0011 | 0/0 | 4443 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| c0012 | 0/0 | 4443 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| c0013 | 0/0 | 4443 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| c0014 | 0/0 | 4443 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| c0015 | 0/0 | 4443 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| c0016 | 0/0 | 4443 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| c0017 | 0/0 | 4443 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| c0018 | 0/0 | 4443 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| c0019 | 0/0 | 4443 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| c0020 | 0/0 | 4443 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| c0021 | 0/0 | 4443 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| c0022 | 0/0 | 4443 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| c0023 | 0/0 | 4443 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| c0024 | 0/0 | 4443 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| c0025 | 0/0 | 4443 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| c0026 | 0/0 | 4443 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| c0027 | 0/0 | 4443 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| c0028 | 0/0 | 4443 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| thapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 1/1 | 1628 | 72 | 8 | 11 | 37 | 6 | 8 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| t0002 | 0/0 | 1627 | 67 | 28 | 8 | 23 | 3 | 5 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| t0003 | 0/0 | 1627 | 38 | 19 | 10 | 2 | 1 | 6 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| t0004 | 0/0 | 1627 | 9 | 9 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| t0005 | 0/0 | 1627 | 6 | 0 | 1 | 5 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| t0006 | 0/0 | 1627 | 5 | 3 | 1 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| t0007 | 0/0 | 1628 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| t0008 | 0/0 | 1628 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| t0009 | 0/0 | 1627 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| t0010 | 0/0 | 1627 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| t0011 | 0/0 | 1627 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0010 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0011 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0012 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0015 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0026 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0032 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0033 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0034 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0035 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0038 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0048 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0058 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0061 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0082 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0083 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0084 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0086 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0089 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0102 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0108 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0109 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0110 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0111 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0116 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0128 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0134 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0136 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0137 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0139 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0145 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0147 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0151 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0152 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0155 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0158 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0159 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0165 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0170 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0171 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0173 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0176 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0179 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0180 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0181 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0183 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0184 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0185 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0186 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0190 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0191 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0199 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0200 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| g0201 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 4443 | 65 | 27 | 4 | 28 | 1 | 5 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0001c0003 | 0/0 | 4443 | 22 | 7 | 7 | 2 | 1 | 5 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0001c0004 | 0/1 | 4443 | 22 | 13 | 6 | 0 | 2 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0001c0005 | 0/0 | 4443 | 7 | 6 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0001c0006 | 0/0 | 4443 | 7 | 6 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0001c0008 | 0/0 | 4443 | 2 | 0 | 2 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0001c0017 | 0/0 | 4443 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0001c0019 | 0/0 | 4443 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0002c0002 | 1/0 | 4443 | 52 | 3 | 9 | 28 | 3 | 8 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0002c0020 | 0/0 | 4443 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0002c0021 | 0/0 | 4443 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0002c0023 | 0/0 | 4443 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0003c0007 | 0/0 | 4443 | 4 | 0 | 0 | 4 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0004c0026 | 0/0 | 4443 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0004c0027 | 0/0 | 4443 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0005c0009 | 0/0 | 4443 | 2 | 2 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0006c0010 | 0/0 | 4443 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0007c0024 | 0/0 | 4443 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0008c0014 | 0/0 | 4443 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0009c0015 | 0/0 | 4443 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0010c0018 | 0/0 | 4443 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0011c0016 | 0/0 | 4443 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0012c0022 | 0/0 | 4443 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0013c0013 | 0/0 | 4443 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0014c0025 | 0/0 | 4443 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0015c0012 | 0/0 | 4443 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0016c0028 | 0/0 | 4443 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0017c0011 | 0/0 | 4443 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 6070 | 4 | 1 | 0 | 3 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0001c0001t0002 | 0/0 | 6069 | 44 | 16 | 3 | 19 | 1 | 5 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0001c0001t0004 | 0/0 | 6069 | 9 | 9 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0001c0001t0005 | 0/0 | 6069 | 5 | 0 | 1 | 4 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0001c0001t0007 | 0/0 | 6070 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0001c0001t0009 | 0/0 | 6069 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0001c0001t0011 | 0/0 | 6069 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0001c0003t0003 | 0/0 | 6069 | 22 | 7 | 7 | 2 | 1 | 5 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0001c0004t0001 | 0/1 | 6070 | 7 | 2 | 2 | 0 | 2 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0001c0004t0002 | 0/0 | 6069 | 14 | 11 | 3 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0001c0004t0003 | 0/0 | 6069 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0001c0005t0003 | 0/0 | 6069 | 6 | 6 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0001c0005t0006 | 0/0 | 6069 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0001c0006t0003 | 0/0 | 6069 | 4 | 3 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0001c0006t0006 | 0/0 | 6069 | 3 | 3 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0001c0008t0003 | 0/0 | 6069 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0001c0008t0010 | 0/0 | 6069 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0001c0017t0001 | 0/0 | 6070 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0001c0019t0003 | 0/0 | 6069 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0002c0002t0001 | 1/0 | 6070 | 48 | 3 | 8 | 26 | 2 | 8 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0002c0002t0002 | 0/0 | 6069 | 3 | 0 | 1 | 1 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0002c0002t0008 | 0/0 | 6070 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0002c0020t0002 | 0/0 | 6069 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0002c0021t0001 | 0/0 | 6070 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0002c0023t0006 | 0/0 | 6069 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0003c0007t0001 | 0/0 | 6070 | 4 | 0 | 0 | 4 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0004c0026t0002 | 0/0 | 6069 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0004c0027t0001 | 0/0 | 6070 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0005c0009t0001 | 0/0 | 6070 | 2 | 2 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0006c0010t0001 | 0/0 | 6070 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0007c0024t0003 | 0/0 | 6069 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0008c0014t0002 | 0/0 | 6069 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0009c0015t0003 | 0/0 | 6069 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0010c0018t0005 | 0/0 | 6069 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0011c0016t0002 | 0/0 | 6069 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0012c0022t0001 | 0/0 | 6070 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0013c0013t0003 | 0/0 | 6069 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0014c0025t0001 | 0/0 | 6070 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0015c0012t0002 | 0/0 | 6069 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0016c0028t0002 | 0/0 | 6069 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| a0017c0011t0001 | 0/0 | 6070 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | copy fasta | chr7 | 117475025 | 117673665 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0001g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0001g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0001g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0002g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0002g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0002g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0002g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0002g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0002g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0002g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0002g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0002g0032 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0002g0034 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0002g0035 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0002g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0002g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0002g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0002g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0002g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0002g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0002g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0002g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0002g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0002g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0002g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0002g0058 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0002g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0002g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0002g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0002g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0002g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0002g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0002g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0002g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0002g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0002g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0002g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0002g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0002g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0002g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0002g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0002g0151 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0002g0176 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0002g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0002g0179 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0002g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0002g0199 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0004g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0004g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0004g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0004g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0004g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0004g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0004g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0004g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0004g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0005g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0005g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0005g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0005g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0005g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0007g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0009g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0001t0011g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0003t0003g0001 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0003t0003g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0003t0003g0026 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0003t0003g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0003t0003g0048 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0003t0003g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0003t0003g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0003t0003g0116 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0003t0003g0134 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0003t0003g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0003t0003g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0003t0003g0145 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0003t0003g0155 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0003t0003g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0003t0003g0180 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0003t0003g0181 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0003t0003g0183 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0003t0003g0184 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0003t0003g0185 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0003t0003g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0003t0003g0190 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0004t0001g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0004t0001g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0004t0001g0010 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0004t0001g0011 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0004t0001g0012 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0004t0001g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0004t0001g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0004t0002g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0004t0002g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0004t0002g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0004t0002g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0004t0002g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0004t0002g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0004t0002g0128 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0004t0002g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0004t0002g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0004t0002g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0004t0002g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0004t0002g0137 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0004t0002g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0004t0002g0186 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0004t0003g0191 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0005t0003g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0005t0003g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0005t0003g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0005t0003g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0005t0003g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0005t0003g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0005t0006g0038 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0006t0003g0015 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0006t0003g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0006t0003g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0006t0003g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0006t0006g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0006t0006g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0006t0006g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0008t0003g0139 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0008t0010g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0017t0001g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0001c0019t0003g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0082 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0083 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0084 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0086 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0089 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0102 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0108 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0109 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0110 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0111 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0152 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0158 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0159 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0171 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0001g0200 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0002g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0002g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0002g0147 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0002t0008g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0020t0002g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0021t0001g0165 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0002c0023t0006g0173 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0003c0007t0001g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0003c0007t0001g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0003c0007t0001g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0003c0007t0001g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0004c0026t0002g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0004c0027t0001g0061 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0005c0009t0001g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0005c0009t0001g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0006c0010t0001g0170 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0007c0024t0003g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0008c0014t0002g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0009c0015t0003g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0010c0018t0005g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0011c0016t0002g0201 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0012c0022t0001g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0013c0013t0003g0136 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0014c0025t0001g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0015c0012t0002g0033 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0016c0028t0002g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| a0017c0011t0001g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0002 | g0034 | EUR | GBR | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG00099 | hp2 | a0002 | c0002 | t0001 | g0110 | EUR | GBR | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG00140 | hp1 | a0011 | c0016 | t0002 | g0201 | EUR | GBR | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG00140 | hp2 | a0002 | c0002 | t0001 | g0086 | EUR | GBR | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG00323 | hp1 | a0001 | c0003 | t0003 | g0116 | EUR | FIN | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG00323 | hp2 | a0004 | c0027 | t0001 | g0061 | EUR | FIN | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG00609 | hp1 | a0003 | c0007 | t0001 | g0168 | EAS | CHS | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG00609 | hp2 | a0001 | c0001 | t0002 | g0057 | EAS | CHS | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG00642 | hp1 | a0001 | c0001 | t0005 | g0047 | AMR | PUR | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG00642 | hp2 | a0001 | c0003 | t0003 | g0144 | AMR | PUR | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG01070 | hp1 | a0001 | c0003 | t0003 | g0181 | AMR | PUR | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG01070 | hp2 | a0002 | c0002 | t0001 | g0082 | AMR | PUR | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG01071 | hp1 | a0001 | c0003 | t0003 | g0180 | AMR | PUR | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG01071 | hp2 | a0001 | c0004 | t0001 | g0006 | AMR | PUR | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG01074 | hp1 | a0001 | c0004 | t0002 | g0137 | AMR | PUR | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG01074 | hp2 | a0001 | c0004 | t0001 | g0007 | AMR | PUR | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG01175 | hp1 | a0001 | c0008 | t0010 | g0133 | AMR | PUR | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG01175 | hp2 | a0002 | c0002 | t0001 | g0200 | AMR | PUR | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG01192 | hp1 | a0002 | c0002 | t0001 | g0111 | AMR | PUR | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG01192 | hp2 | a0001 | c0004 | t0002 | g0186 | AMR | PUR | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG01243 | hp1 | a0001 | c0003 | t0003 | g0155 | AMR | PUR | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG01243 | hp2 | a0001 | c0001 | t0002 | g0176 | AMR | PUR | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG01257 | hp1 | a0001 | c0003 | t0003 | g0001 | AMR | CLM | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG01257 | hp2 | a0006 | c0010 | t0001 | g0170 | AMR | CLM | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG01258 | hp1 | a0001 | c0003 | t0003 | g0001 | AMR | CLM | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG01258 | hp2 | a0002 | c0002 | t0002 | g0146 | AMR | CLM | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG01346 | hp1 | a0002 | c0023 | t0006 | g0173 | AMR | CLM | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG01346 | hp2 | a0001 | c0003 | t0003 | g0185 | AMR | CLM | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG01433 | hp1 | a0001 | c0004 | t0002 | g0128 | AMR | CLM | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG01433 | hp2 | a0001 | c0001 | t0002 | g0003 | AMR | CLM | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG01496 | hp1 | a0001 | c0004 | t0003 | g0191 | AMR | CLM | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG01496 | hp2 | a0002 | c0002 | t0001 | g0102 | AMR | CLM | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG01516 | hp1 | a0002 | c0021 | t0001 | g0165 | EUR | IBS | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG01516 | hp2 | a0001 | c0004 | t0001 | g0011 | EUR | IBS | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG01891 | hp1 | a0001 | c0001 | t0002 | g0078 | AFR | ACB | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG01891 | hp2 | a0001 | c0004 | t0002 | g0002 | AFR | ACB | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG01943 | hp1 | a0002 | c0002 | t0001 | g0093 | AMR | PEL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG01943 | hp2 | a0001 | c0008 | t0003 | g0139 | AMR | PEL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG01993 | hp1 | a0015 | c0012 | t0002 | g0033 | AMR | PEL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG01993 | hp2 | a0002 | c0002 | t0001 | g0090 | AMR | PEL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02027 | hp1 | a0002 | c0002 | t0001 | g0169 | EAS | KHV | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02027 | hp2 | a0001 | c0001 | t0002 | g0045 | EAS | KHV | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02040 | hp1 | a0002 | c0002 | t0001 | g0098 | EAS | KHV | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02040 | hp2 | a0001 | c0003 | t0003 | g0021 | EAS | KHV | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02056 | hp1 | a0014 | c0025 | t0001 | g0172 | EAS | KHV | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02056 | hp2 | a0001 | c0001 | t0001 | g0068 | EAS | KHV | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02080 | hp1 | a0002 | c0002 | t0001 | g0105 | EAS | KHV | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02080 | hp2 | a0001 | c0001 | t0002 | g0030 | EAS | KHV | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02129 | hp1 | a0002 | c0002 | t0001 | g0104 | EAS | KHV | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02129 | hp2 | a0001 | c0001 | t0002 | g0036 | EAS | KHV | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02132 | hp1 | a0001 | c0001 | t0005 | g0025 | EAS | KHV | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02132 | hp2 | a0002 | c0002 | t0001 | g0103 | EAS | KHV | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02145 | hp1 | a0001 | c0003 | t0003 | g0183 | AFR | ACB | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02145 | hp2 | a0001 | c0005 | t0003 | g0194 | AFR | ACB | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02148 | hp1 | a0001 | c0001 | t0002 | g0054 | AMR | PEL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02148 | hp2 | a0002 | c0002 | t0001 | g0092 | AMR | PEL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02165 | hp1 | a0002 | c0002 | t0001 | g0073 | EAS | CDX | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02165 | hp2 | a0001 | c0001 | t0002 | g0055 | EAS | CDX | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02257 | hp1 | a0001 | c0004 | t0002 | g0115 | AFR | ACB | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02257 | hp2 | a0002 | c0002 | t0001 | g0160 | AFR | ACB | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02258 | hp1 | a0001 | c0019 | t0003 | g0192 | AFR | ACB | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02258 | hp2 | a0001 | c0001 | t0002 | g0119 | AFR | ACB | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02280 | hp1 | a0001 | c0001 | t0002 | g0004 | AFR | ACB | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02280 | hp2 | a0001 | c0006 | t0003 | g0142 | AFR | ACB | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02451 | hp1 | a0001 | c0003 | t0003 | g0190 | AFR | ACB | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02451 | hp2 | a0001 | c0001 | t0002 | g0120 | AFR | ACB | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02523 | hp1 | a0016 | c0028 | t0002 | g0031 | EAS | KHV | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02523 | hp2 | a0002 | c0002 | t0001 | g0080 | EAS | KHV | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02630 | hp1 | a0002 | c0020 | t0002 | g0079 | AFR | GWD | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02630 | hp2 | a0001 | c0004 | t0002 | g0008 | AFR | GWD | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02647 | hp1 | a0001 | c0004 | t0002 | g0131 | AFR | GWD | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02647 | hp2 | a0001 | c0003 | t0003 | g0141 | AFR | GWD | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02683 | hp1 | a0001 | c0003 | t0003 | g0134 | SAS | PJL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02683 | hp2 | a0001 | c0006 | t0003 | g0015 | SAS | PJL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02723 | hp1 | a0001 | c0003 | t0003 | g0114 | AFR | GWD | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02723 | hp2 | a0001 | c0001 | t0004 | g0118 | AFR | GWD | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02738 | hp1 | a0001 | c0003 | t0003 | g0184 | SAS | PJL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02738 | hp2 | a0002 | c0002 | t0001 | g0158 | SAS | PJL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02809 | hp1 | a0001 | c0003 | t0003 | g0187 | AFR | GWD | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02809 | hp2 | a0001 | c0001 | t0002 | g0177 | AFR | GWD | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02818 | hp1 | a0001 | c0003 | t0003 | g0113 | AFR | GWD | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02818 | hp2 | a0007 | c0024 | t0003 | g0148 | AFR | GWD | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02886 | hp1 | a0001 | c0001 | t0002 | g0117 | AFR | GWD | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02886 | hp2 | a0001 | c0005 | t0003 | g0150 | AFR | GWD | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02895 | hp1 | a0001 | c0006 | t0003 | g0198 | AFR | GWD | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02895 | hp2 | a0001 | c0001 | t0002 | g0075 | AFR | GWD | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02896 | hp1 | a0001 | c0004 | t0002 | g0132 | AFR | GWD | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02896 | hp2 | a0001 | c0001 | t0002 | g0077 | AFR | GWD | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02922 | hp1 | a0001 | c0001 | t0004 | g0138 | AFR | ESN | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02922 | hp2 | a0001 | c0001 | t0002 | g0122 | AFR | ESN | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02965 | hp1 | a0005 | c0009 | t0001 | g0153 | AFR | ESN | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02965 | hp2 | a0001 | c0001 | t0011 | g0049 | AFR | ESN | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02970 | hp1 | a0001 | c0004 | t0002 | g0125 | AFR | ESN | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02970 | hp2 | a0001 | c0006 | t0006 | g0013 | AFR | ESN | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG03017 | hp1 | a0001 | c0003 | t0003 | g0026 | SAS | PJL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG03017 | hp2 | a0001 | c0001 | t0002 | g0151 | SAS | PJL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG03041 | hp1 | a0001 | c0005 | t0003 | g0196 | AFR | GWD | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG03041 | hp2 | a0001 | c0003 | t0003 | g0178 | AFR | GWD | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG03098 | hp1 | a0001 | c0001 | t0002 | g0062 | AFR | MSL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG03098 | hp2 | a0001 | c0005 | t0003 | g0156 | AFR | MSL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG03130 | hp1 | a0001 | c0004 | t0002 | g0140 | AFR | ESN | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG03130 | hp2 | a0001 | c0001 | t0004 | g0018 | AFR | ESN | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG03139 | hp1 | a0001 | c0001 | t0002 | g0063 | AFR | ESN | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG03139 | hp2 | a0001 | c0001 | t0002 | g0179 | AFR | ESN | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG03209 | hp1 | a0001 | c0005 | t0003 | g0197 | AFR | MSL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG03209 | hp2 | a0001 | c0001 | t0004 | g0182 | AFR | MSL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG03225 | hp1 | a0001 | c0001 | t0004 | g0126 | AFR | MSL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG03225 | hp2 | a0001 | c0004 | t0002 | g0016 | AFR | MSL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG03239 | hp1 | a0001 | c0001 | t0002 | g0032 | SAS | PJL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG03239 | hp2 | a0002 | c0002 | t0001 | g0108 | SAS | PJL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG03654 | hp1 | a0002 | c0002 | t0001 | g0089 | SAS | PJL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG03654 | hp2 | a0001 | c0005 | t0006 | g0038 | SAS | PJL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG03669 | hp1 | a0002 | c0002 | t0001 | g0109 | SAS | PJL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG03669 | hp2 | a0001 | c0001 | t0002 | g0035 | SAS | PJL | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG03688 | hp1 | a0002 | c0002 | t0001 | g0171 | SAS | STU | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG03688 | hp2 | a0001 | c0001 | t0002 | g0058 | SAS | STU | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG04184 | hp1 | a0001 | c0003 | t0003 | g0145 | SAS | BEB | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG04184 | hp2 | a0002 | c0002 | t0001 | g0159 | SAS | BEB | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG04199 | hp1 | a0002 | c0002 | t0001 | g0152 | SAS | STU | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG04199 | hp2 | a0001 | c0001 | t0002 | g0199 | SAS | STU | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG04204 | hp1 | a0002 | c0002 | t0001 | g0084 | SAS | STU | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG04204 | hp2 | a0001 | c0003 | t0003 | g0048 | SAS | STU | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA18906 | hp1 | a0001 | c0001 | t0004 | g0009 | AFR | YRI | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA18906 | hp2 | a0001 | c0001 | t0002 | g0195 | AFR | YRI | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA18947 | hp1 | a0003 | c0007 | t0001 | g0167 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA18947 | hp2 | a0001 | c0001 | t0002 | g0051 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA18954 | hp1 | a0001 | c0001 | t0009 | g0052 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA18954 | hp2 | a0002 | c0002 | t0001 | g0174 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA18960 | hp1 | a0001 | c0001 | t0002 | g0023 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA18960 | hp2 | a0002 | c0002 | t0001 | g0081 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA18966 | hp1 | a0002 | c0002 | t0001 | g0164 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA18966 | hp2 | a0001 | c0003 | t0003 | g0040 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA18968 | hp1 | a0001 | c0001 | t0002 | g0044 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA18968 | hp2 | a0002 | c0002 | t0001 | g0157 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA18970 | hp1 | a0002 | c0002 | t0001 | g0099 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA18970 | hp2 | a0001 | c0001 | t0002 | g0050 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA18978 | hp1 | a0001 | c0001 | t0002 | g0065 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA18978 | hp2 | a0002 | c0002 | t0001 | g0107 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA18982 | hp1 | a0001 | c0001 | t0002 | g0046 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA18982 | hp2 | a0002 | c0002 | t0001 | g0101 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA18988 | hp1 | a0001 | c0001 | t0002 | g0024 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA18988 | hp2 | a0002 | c0002 | t0001 | g0069 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA18990 | hp1 | a0002 | c0002 | t0001 | g0041 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA18990 | hp2 | a0008 | c0014 | t0002 | g0027 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA18992 | hp1 | a0003 | c0007 | t0001 | g0100 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA18992 | hp2 | a0010 | c0018 | t0005 | g0028 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA18993 | hp1 | a0012 | c0022 | t0001 | g0091 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA18993 | hp2 | a0001 | c0001 | t0002 | g0071 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA19010 | hp1 | a0001 | c0001 | t0002 | g0042 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA19010 | hp2 | a0002 | c0002 | t0001 | g0097 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA19011 | hp1 | a0001 | c0001 | t0002 | g0020 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA19011 | hp2 | a0002 | c0002 | t0001 | g0161 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA19030 | hp1 | a0001 | c0005 | t0003 | g0149 | AFR | LWK | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA19030 | hp2 | a0001 | c0006 | t0006 | g0005 | AFR | LWK | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA19043 | hp1 | a0001 | c0001 | t0004 | g0072 | AFR | LWK | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA19043 | hp2 | a0001 | c0004 | t0002 | g0130 | AFR | LWK | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA19060 | hp1 | a0002 | c0002 | t0001 | g0096 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA19060 | hp2 | a0001 | c0001 | t0002 | g0043 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA19062 | hp1 | a0001 | c0001 | t0002 | g0022 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA19062 | hp2 | a0002 | c0002 | t0001 | g0175 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA19065 | hp1 | a0002 | c0002 | t0001 | g0189 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA19065 | hp2 | a0001 | c0001 | t0002 | g0029 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA19066 | hp1 | a0001 | c0001 | t0001 | g0039 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA19066 | hp2 | a0002 | c0002 | t0001 | g0163 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA19070 | hp1 | a0001 | c0001 | t0002 | g0067 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA19070 | hp2 | a0003 | c0007 | t0001 | g0166 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA19072 | hp1 | a0001 | c0017 | t0001 | g0064 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA19072 | hp2 | a0002 | c0002 | t0002 | g0088 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA19085 | hp1 | a0001 | c0001 | t0005 | g0066 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA19085 | hp2 | a0002 | c0002 | t0001 | g0188 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA19086 | hp1 | a0004 | c0026 | t0002 | g0037 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA19086 | hp2 | a0002 | c0002 | t0001 | g0070 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA19087 | hp1 | a0002 | c0002 | t0008 | g0162 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA19087 | hp2 | a0001 | c0001 | t0001 | g0053 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA19089 | hp1 | a0002 | c0002 | t0001 | g0106 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA19089 | hp2 | a0001 | c0001 | t0005 | g0019 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA19090 | hp1 | a0017 | c0011 | t0001 | g0112 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA19090 | hp2 | a0001 | c0001 | t0007 | g0060 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA19091 | hp1 | a0001 | c0001 | t0005 | g0059 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA19091 | hp2 | a0002 | c0002 | t0001 | g0095 | EAS | JPT | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA19240 | hp1 | a0001 | c0006 | t0006 | g0014 | AFR | YRI | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA19240 | hp2 | a0001 | c0004 | t0002 | g0124 | AFR | YRI | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA20129 | hp1 | a0001 | c0004 | t0001 | g0143 | AFR | ASW | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA20129 | hp2 | a0001 | c0001 | t0004 | g0127 | AFR | ASW | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA20805 | hp1 | a0002 | c0002 | t0002 | g0147 | EUR | TSI | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA20805 | hp2 | a0001 | c0004 | t0001 | g0010 | EUR | TSI | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG01123 | hp1 | a0013 | c0013 | t0003 | g0136 | AMR | CLM | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG01123 | hp2 | a0002 | c0002 | t0001 | g0094 | AMR | CLM | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02109 | hp1 | a0001 | c0004 | t0001 | g0017 | AFR | ACB | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02109 | hp2 | a0001 | c0001 | t0002 | g0123 | AFR | ACB | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02486 | hp1 | a0005 | c0009 | t0001 | g0154 | AFR | ACB | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02486 | hp2 | a0001 | c0001 | t0002 | g0121 | AFR | ACB | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02559 | hp1 | a0001 | c0006 | t0003 | g0193 | AFR | ACB | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG02559 | hp2 | a0002 | c0002 | t0001 | g0087 | AFR | ACB | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG06807 | hp1 | a0001 | c0001 | t0004 | g0135 | AFR | USA | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| HG06807 | hp2 | a0009 | c0015 | t0003 | g0074 | AFR | USA | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA20300 | hp1 | a0001 | c0001 | t0001 | g0056 | AFR | USA | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA20300 | hp2 | a0001 | c0001 | t0002 | g0076 | AFR | USA | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA21309 | hp1 | a0001 | c0004 | t0002 | g0129 | AFR | LWK | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| NA21309 | hp2 | a0002 | c0002 | t0001 | g0085 | AFR | LWK | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0004 | t0001 | g0012 | REF | REF | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| homoSapiens_grch38 | hp1 | a0002 | c0002 | t0001 | g0083 | REF | REF | CFTR_chr7_117475025_117673665 | CFTR | chr7 | 117475025 | 117673665 |
| chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:117509089
|
C | T | 1 | a0005 | 2 | HG02486.hp1 HG02965.hp1 |
missense_variant | MODERATE | c.220C>T | p.Arg74Trp | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/27 | 290/6070 | 220/4443 | 74/1480 | chr7 | 117509089 | ||
| chr7:117509093
|
G | A | 1 | a0006 | 1 | HG01257.hp2 | missense_variant | MODERATE | c.224G>A | p.Arg75Gln | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/27 | 294/6070 | 224/4443 | 75/1480 | chr7 | 117509093 | ||
| chr7:117530999
|
T | C | 1 | a0017 | 1 | NA19090.hp1 | missense_variant | MODERATE | c.374T>C | p.Ile125Thr | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/27 | 444/6070 | 374/4443 | 125/1480 | chr7 | 117530999 | ||
| chr7:117531043
|
C | T | 1 | a0016 | 1 | HG02523.hp1 | missense_variant | MODERATE | c.418C>T | p.Pro140Ser | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/27 | 488/6070 | 418/4443 | 140/1480 | chr7 | 117531043 | ||
| chr7:117535318
|
A | G | 1 | a0004 | 2 | HG00323.hp2 NA19086.hp1 |
missense_variant | MODERATE | c.650A>G | p.Glu217Gly | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 6/27 | 720/6070 | 650/4443 | 217/1480 | chr7 | 117535318 | ||
| chr7:117535375
|
T | C | 1 | a0015 | 1 | HG01993.hp1 | missense_variant | MODERATE | c.707T>C | p.Phe236Ser | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 6/27 | 777/6070 | 707/4443 | 236/1480 | chr7 | 117535375 | ||
| chr7:117535398
|
A | G | 1 | a0014 | 1 | HG02056.hp1 | missense_variant | MODERATE | c.730A>G | p.Met244Val | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 6/27 | 800/6070 | 730/4443 | 244/1480 | chr7 | 117535398 | ||
| chr7:117540282
|
C | G | 1 | a0007 | 1 | HG02818.hp2 | missense_variant | MODERATE | c.1052C>G | p.Thr351Ser | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 8/27 | 1122/6070 | 1052/4443 | 351/1480 | chr7 | 117540282 | ||
| chr7:117542047
|
T | C | 1 | a0013 | 1 | HG01123.hp1 | missense_variant | MODERATE | c.1148T>C | p.Leu383Ser | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/27 | 1218/6070 | 1148/4443 | 383/1480 | chr7 | 117542047 | ||
| chr7:117559479
|
G | A | 10 | a0001a0004a0007others(7): Show | 137 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(134): Show |
missense_variant | MODERATE | c.1408G>A | p.Val470Met | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/27 | 1478/6070 | 1408/4443 | 470/1480 | chr7 | 117559479 | ||
| chr7:117559559
|
G | C | 1 | a0008 | 1 | NA18990.hp2 | missense_variant | MODERATE | c.1488G>C | p.Trp496Cys | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/27 | 1558/6070 | 1488/4443 | 496/1480 | chr7 | 117559559 | ||
| chr7:117587820
|
A | G | 1 | a0003 | 4 | HG00609.hp1 NA18947.hp1 NA18992.hp1 others(1): Show |
missense_variant | MODERATE | c.1666A>G | p.Ile556Val | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 12/27 | 1736/6070 | 1666/4443 | 556/1480 | chr7 | 117587820 | ||
| chr7:117590400
|
G | C | 1 | a0009 | 1 | HG06807.hp2 | missense_variant | MODERATE | c.1727G>C | p.Gly576Ala | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 13/27 | 1797/6070 | 1727/4443 | 576/1480 | chr7 | 117590400 | ||
| chr7:117592169
|
C | T | 1 | a0009 | 1 | HG06807.hp2 | missense_variant | MODERATE | c.2002C>T | p.Arg668Cys | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 14/27 | 2072/6070 | 2002/4443 | 668/1480 | chr7 | 117592169 | ||
| chr7:117627712
|
C | T | 1 | a0010 | 1 | NA18992.hp2 | missense_variant | MODERATE | c.3659C>T | p.Thr1220Ile | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/27 | 3729/6070 | 3659/4443 | 1220/1480 | chr7 | 117627712 | ||
| chr7:117627758
|
T | G | 1 | a0011 | 1 | HG00140.hp1 | missense_variant | MODERATE | c.3705T>G | p.Ser1235Arg | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/27 | 3775/6070 | 3705/4443 | 1235/1480 | chr7 | 117627758 | ||
| chr7:117642528
|
G | A | 1 | a0005 | 2 | HG02486.hp1 HG02965.hp1 |
missense_variant | MODERATE | c.3808G>A | p.Asp1270Asn | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/27 | 3878/6070 | 3808/4443 | 1270/1480 | chr7 | 117642528 | ||
| chr7:117667022
|
C | T | 1 | a0012 | 1 | NA18993.hp1 | missense_variant | MODERATE | c.4357C>T | p.Arg1453Trp | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 27/27 | 4427/6070 | 4357/4443 | 1453/1480 | chr7 | 117667022 |
| chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:117559652
|
A | G | 1 | a0001c0019 | 1 | HG02258.hp1 | synonymous_variant | LOW | c.1581A>G | p.Glu527Glu | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/27 | 1651/6070 | 1581/4443 | 527/1480 | chr7 | 117559652 | ||
| chr7:117559655
|
G | A | 1 | a0001c0008 | 2 | HG01175.hp1 HG01943.hp2 |
splice_region_variant&synonymous_variant | LOW | c.1584G>A | p.Glu528Glu | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/27 | 1654/6070 | 1584/4443 | 528/1480 | chr7 | 117559655 | ||
| chr7:117595001
|
T | G | 15 | a0001c0001a0001c0003a0001c0005others(12): Show | 107 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(104): Show |
synonymous_variant | LOW | c.2562T>G | p.Thr854Thr | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/27 | 2632/6070 | 2562/4443 | 854/1480 | chr7 | 117595001 | ||
| chr7:117603772
|
G | A | 1 | a0002c0021 | 1 | HG01516.hp1 | synonymous_variant | LOW | c.2898G>A | p.Thr966Thr | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 17/27 | 2968/6070 | 2898/4443 | 966/1480 | chr7 | 117603772 | ||
| chr7:117642443
|
C | A | 1 | a0001c0017 | 1 | NA19072.hp1 | synonymous_variant | LOW | c.3723C>A | p.Gly1241Gly | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/27 | 3793/6070 | 3723/4443 | 1241/1480 | chr7 | 117642443 | ||
| chr7:117642590
|
A | G | 5 | a0001c0005a0001c0006a0001c0019others(2): Show | 17 | HG01346.hp1 HG02145.hp2 HG02258.hp1 others(14): Show |
synonymous_variant | LOW | c.3870A>G | p.Pro1290Pro | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/27 | 3940/6070 | 3870/4443 | 1290/1480 | chr7 | 117642590 | ||
| chr7:117667054
|
G | A | 9 | a0001c0003a0001c0005a0001c0006others(6): Show | 43 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(40): Show |
synonymous_variant | LOW | c.4389G>A | p.Gln1463Gln | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 27/27 | 4459/6070 | 4389/4443 | 1463/1480 | chr7 | 117667054 |
| chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:117480087
|
G | C | 3 | a0001c0001t0005a0001c0001t0007a0010c0018t0005 | 7 | HG00642.hp1 HG02132.hp1 NA18992.hp2 others(4): Show |
5_prime_UTR_variant | MODIFIER | c.-8G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/27 | 8 | chr7 | 117480087 | |||||
| chr7:117667181
|
T | C | 1 | a0002c0002t0008 | 1 | NA19087.hp1 | 3_prime_UTR_variant | MODIFIER | c.*73T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 27/27 | 73 | chr7 | 117667181 | |||||
| chr7:117667202
|
C | T | 1 | a0001c0001t0011 | 1 | HG02965.hp2 | 3_prime_UTR_variant | MODIFIER | c.*94C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 27/27 | 94 | chr7 | 117667202 | |||||
| chr7:117667232
|
GT | G | 27 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(24): Show | 128 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(125): Show |
3_prime_UTR_variant | MODIFIER | c.*133delT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 27/27 | 133 | INFO_REALIGN_3_PRIME | chr7 | 117667232 | ||||
| chr7:117667433
|
A | G | 1 | a0001c0001t0004 | 9 | HG02723.hp2 HG02922.hp1 HG03130.hp2 others(6): Show |
3_prime_UTR_variant | MODIFIER | c.*325A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 27/27 | 325 | chr7 | 117667433 | |||||
| chr7:117668151
|
A | C | 3 | a0001c0005t0006a0001c0006t0006a0002c0023t0006 | 5 | HG01346.hp1 HG02970.hp2 HG03654.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*1043A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 27/27 | 1043 | chr7 | 117668151 | |||||
| chr7:117668195
|
T | C | 1 | a0001c0001t0009 | 1 | NA18954.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1087T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 27/27 | 1087 | chr7 | 117668195 | |||||
| chr7:117668197
|
T | C | 1 | a0001c0008t0010 | 1 | HG01175.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1089T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 27/27 | 1089 | chr7 | 117668197 | |||||
| chr7:117668359
|
C | T | 13 | a0001c0003t0003a0001c0004t0003a0001c0005t0003others(10): Show | 44 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(41): Show |
3_prime_UTR_variant | MODIFIER | c.*1251C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 27/27 | 1251 | chr7 | 117668359 |
| chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:117480471
|
A | G | 1 | a0011c0016t0002g0201 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.53+324A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117480471 | ||||||
| chr7:117481280
|
C | A | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.53+1133C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117481280 | ||||||
| chr7:117482181
|
A | C | 1 | a0002c0002t0001g0200 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.53+2034A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117482181 | ||||||
| chr7:117482400
|
T | G | 13 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0004g0009others(10): Show | 13 | HG01071.hp2 HG01074.hp2 HG01433.hp2 others(10): Show |
intron_variant | MODIFIER | c.53+2253T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117482400 | ||||||
| chr7:117482806
|
A | T | 1 | a0001c0001t0002g0199 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.53+2659A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117482806 | ||||||
| chr7:117482811
|
G | A | 13 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0004g0009others(10): Show | 13 | HG01071.hp2 HG01074.hp2 HG01433.hp2 others(10): Show |
intron_variant | MODIFIER | c.53+2664G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117482811 | ||||||
| chr7:117482847
|
C | T | 1 | a0002c0002t0001g0200 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.53+2700C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117482847 | ||||||
| chr7:117483071
|
C | T | 1 | a0001c0006t0003g0198 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.53+2924C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117483071 | ||||||
| chr7:117483351
|
C | T | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.53+3204C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117483351 | ||||||
| chr7:117483734
|
C | T | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.53+3587C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117483734 | ||||||
| chr7:117483747
|
T | A | 2 | a0001c0004t0001g0017a0001c0004t0002g0016 | 2 | HG02109.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.53+3600T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117483747 | ||||||
| chr7:117484100
|
G | C | 1 | a0001c0001t0004g0018 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.53+3953G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117484100 | ||||||
| chr7:117484158
|
C | T | 1 | a0001c0006t0003g0198 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.53+4011C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117484158 | ||||||
| chr7:117484616
|
A | G | 2 | a0001c0006t0003g0193a0001c0019t0003g0192 | 2 | HG02258.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.53+4469A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117484616 | ||||||
| chr7:117484806
|
T | G | 1 | a0001c0001t0005g0019 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.53+4659T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117484806 | ||||||
| chr7:117485018
|
C | T | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.53+4871C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117485018 | ||||||
| chr7:117485152
|
T | G | 2 | a0001c0001t0002g0003a0001c0001t0002g0004 | 2 | HG01433.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.53+5005T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117485152 | ||||||
| chr7:117485232
|
G | A | 1 | a0001c0006t0006g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.53+5085G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117485232 | ||||||
| chr7:117485386
|
A | C | 1 | a0001c0003t0003g0190 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.53+5239A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117485386 | ||||||
| chr7:117485474
|
C | T | 1 | a0001c0006t0003g0015 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.53+5327C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117485474 | ||||||
| chr7:117485555
|
G | A | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.53+5408G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117485555 | ||||||
| chr7:117485557
|
G | A | 1 | a0001c0001t0002g0199 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.53+5410G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117485557 | ||||||
| chr7:117485762
|
A | T | 2 | a0002c0002t0001g0188a0002c0002t0001g0189 | 2 | NA19065.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.53+5615A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117485762 | ||||||
| chr7:117485883
|
G | A | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.53+5736G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117485883 | ||||||
| chr7:117486337
|
C | T | 2 | a0001c0004t0001g0017a0001c0004t0002g0016 | 2 | HG02109.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.53+6190C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117486337 | ||||||
| chr7:117486347
|
G | A | 55 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(52): Show | 55 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(52): Show |
intron_variant | MODIFIER | c.53+6200G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117486347 | ||||||
| chr7:117486462
|
G | A | 1 | a0001c0001t0004g0072 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.53+6315G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117486462 | ||||||
| chr7:117486781
|
T | C | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.53+6634T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117486781 | ||||||
| chr7:117486879
|
T | TG | 69 | a0001c0001t0001g0053a0001c0001t0001g0056a0001c0001t0001g0068others(66): Show | 69 | HG00140.hp1 HG00323.hp2 HG00609.hp1 others(66): Show |
intron_variant | MODIFIER | c.53+6739dupG | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117486879 | |||||
| chr7:117486896
|
G | GGA | 4 | a0001c0005t0003g0156a0001c0005t0003g0196a0001c0005t0003g0197others(1): Show | 4 | HG02165.hp1 HG03041.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.53+6770_53+6771dup others(2): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117486896 | |||||
| chr7:117486896
|
G | GGAGA | 56 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(53): Show | 56 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(53): Show |
intron_variant | MODIFIER | c.53+6768_53+6771dup others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117486896 | |||||
| chr7:117486989
|
G | A | 1 | a0009c0015t0003g0074 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.53+6842G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117486989 | ||||||
| chr7:117487073
|
C | T | 2 | a0005c0009t0001g0153a0005c0009t0001g0154 | 2 | HG02486.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.53+6926C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117487073 | ||||||
| chr7:117487186
|
T | G | 1 | a0001c0001t0005g0047 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.53+7039T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117487186 | ||||||
| chr7:117487671
|
C | G | 1 | a0002c0002t0001g0152 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.53+7524C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117487671 | ||||||
| chr7:117487685
|
A | C | 75 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(72): Show | 75 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(72): Show |
intron_variant | MODIFIER | c.53+7538A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117487685 | ||||||
| chr7:117487892
|
T | C | 1 | a0001c0006t0003g0198 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.53+7745T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117487892 | ||||||
| chr7:117487902
|
G | A | 4 | a0001c0001t0002g0075a0001c0001t0002g0076a0001c0001t0002g0077others(1): Show | 4 | HG01891.hp1 HG02895.hp2 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.53+7755G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117487902 | ||||||
| chr7:117487998
|
C | T | 2 | a0002c0002t0002g0146a0002c0002t0002g0147 | 2 | HG01258.hp2 NA20805.hp1 |
intron_variant | MODIFIER | c.53+7851C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117487998 | ||||||
| chr7:117488311
|
CT | C | 2 | a0001c0004t0001g0017a0001c0004t0002g0016 | 2 | HG02109.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.53+8167delT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117488311 | |||||
| chr7:117488445
|
C | G | 1 | a0001c0004t0001g0012 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.53+8298C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117488445 | ||||||
| chr7:117488449
|
A | T | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.53+8302A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117488449 | ||||||
| chr7:117488492
|
T | C | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.53+8345T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117488492 | ||||||
| chr7:117488535
|
C | T | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.53+8388C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117488535 | ||||||
| chr7:117488888
|
A | C | 136 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(133): Show | 137 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(134): Show |
intron_variant | MODIFIER | c.53+8741A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117488888 | ||||||
| chr7:117488980
|
C | G | 1 | a0001c0004t0001g0012 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.53+8833C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117488980 | ||||||
| chr7:117488997
|
T | A | 1 | a0002c0020t0002g0079 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.53+8850T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117488997 | ||||||
| chr7:117489285
|
G | A | 2 | a0001c0003t0003g0113a0001c0003t0003g0114 | 2 | HG02723.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.53+9138G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117489285 | ||||||
| chr7:117489316
|
A | G | 1 | a0001c0003t0003g0040 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.53+9169A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117489316 | ||||||
| chr7:117489350
|
T | C | 136 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(133): Show | 137 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(134): Show |
intron_variant | MODIFIER | c.53+9203T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117489350 | ||||||
| chr7:117489437
|
A | G | 60 | a0001c0001t0002g0075a0001c0001t0002g0076a0001c0001t0002g0077others(57): Show | 61 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(58): Show |
intron_variant | MODIFIER | c.53+9290A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117489437 | ||||||
| chr7:117489505
|
G | A | 4 | a0001c0001t0002g0176a0001c0001t0002g0177a0001c0003t0003g0116others(1): Show | 4 | HG00323.hp1 HG01243.hp2 HG02257.hp1 others(1): Show |
intron_variant | MODIFIER | c.53+9358G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117489505 | ||||||
| chr7:117489990
|
C | T | 1 | a0001c0001t0004g0009 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.53+9843C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117489990 | ||||||
| chr7:117490088
|
A | C | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.53+9941A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117490088 | ||||||
| chr7:117490091
|
T | C | 3 | a0001c0003t0003g0113a0001c0003t0003g0114a0001c0003t0003g0178 | 3 | HG02723.hp1 HG02818.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.53+9944T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117490091 | ||||||
| chr7:117490312
|
T | TAC | 56 | a0001c0001t0002g0022a0001c0001t0002g0023a0001c0001t0002g0024others(53): Show | 56 | HG00140.hp2 HG00609.hp1 HG01123.hp2 others(53): Show |
intron_variant | MODIFIER | c.53+10207_53+10208d others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117490312 | |||||
| chr7:117490312
|
T | TACAC | 40 | a0001c0001t0001g0053a0001c0001t0001g0056a0001c0001t0002g0003others(37): Show | 40 | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(37): Show |
intron_variant | MODIFIER | c.53+10205_53+10208d others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117490312 | |||||
| chr7:117490312
|
T | TACACAC | 18 | a0001c0001t0001g0039a0001c0001t0002g0063a0001c0001t0002g0065others(15): Show | 18 | HG01192.hp1 HG01346.hp1 HG02056.hp1 others(15): Show |
intron_variant | MODIFIER | c.53+10203_53+10208d others(8): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117490312 | |||||
| chr7:117490312
|
T | TACACACA others(1): Show |
2 | a0001c0001t0002g0067a0001c0001t0005g0066 | 2 | NA19070.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.53+10201_53+10208d others(10): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117490312 | |||||
| chr7:117490312
|
T | TACACACA others(3): Show |
4 | a0001c0001t0001g0068a0001c0003t0003g0144a0001c0003t0003g0145others(1): Show | 4 | HG00140.hp1 HG00642.hp2 HG02056.hp2 others(1): Show |
intron_variant | MODIFIER | c.53+10199_53+10208d others(12): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117490312 | |||||
| chr7:117490312
|
T | TACACACA others(9): Show |
2 | a0002c0002t0001g0188a0002c0002t0001g0189 | 2 | NA19065.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.53+10193_53+10208d others(18): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117490312 | |||||
| chr7:117490312
|
T | TACACACA others(11): Show |
1 | a0001c0003t0003g0187 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.53+10191_53+10208d others(20): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117490312 | |||||
| chr7:117490312
|
TAC | T | 13 | a0001c0001t0002g0177a0001c0001t0004g0018a0001c0001t0004g0126others(10): Show | 13 | HG02523.hp2 HG02630.hp1 HG02809.hp2 others(10): Show |
intron_variant | MODIFIER | c.53+10207_53+10208d others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117490312 | |||||
| chr7:117490312
|
TACAC | T | 5 | a0001c0001t0002g0123a0001c0003t0003g0180a0001c0003t0003g0181others(2): Show | 5 | HG01070.hp1 HG01071.hp1 HG01496.hp1 others(2): Show |
intron_variant | MODIFIER | c.53+10205_53+10208d others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117490312 | |||||
| chr7:117490312
|
TACACAC | T | 16 | a0001c0001t0002g0075a0001c0001t0002g0076a0001c0001t0002g0077others(13): Show | 16 | HG01243.hp2 HG01891.hp1 HG02257.hp1 others(13): Show |
intron_variant | MODIFIER | c.53+10203_53+10208d others(8): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117490312 | |||||
| chr7:117490312
|
TACACACA others(1): Show |
T | 4 | a0001c0001t0002g0151a0001c0005t0003g0149a0001c0005t0003g0150others(1): Show | 4 | HG02818.hp2 HG02886.hp2 HG03017.hp2 others(1): Show |
intron_variant | MODIFIER | c.53+10201_53+10208d others(10): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117490312 | |||||
| chr7:117490312
|
TACACACA others(3): Show |
T | 5 | a0001c0001t0002g0195a0001c0004t0002g0002a0001c0005t0003g0194others(2): Show | 5 | HG01891.hp2 HG02145.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.53+10199_53+10208d others(12): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117490312 | |||||
| chr7:117490473
|
AGTCT | A | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.53+10329_53+10332d others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117490473 | |||||
| chr7:117490589
|
G | C | 70 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(67): Show | 70 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(67): Show |
intron_variant | MODIFIER | c.53+10442G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117490589 | ||||||
| chr7:117490627
|
C | T | 1 | a0001c0008t0003g0139 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.53+10480C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117490627 | ||||||
| chr7:117490701
|
C | G | 1 | a0006c0010t0001g0170 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.53+10554C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117490701 | ||||||
| chr7:117490741
|
T | C | 2 | a0001c0003t0003g0021a0001c0003t0003g0040 | 2 | HG02040.hp2 NA18966.hp2 |
intron_variant | MODIFIER | c.53+10594T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117490741 | ||||||
| chr7:117490861
|
C | T | 5 | a0001c0004t0001g0006a0001c0004t0001g0007a0001c0004t0001g0010others(2): Show | 5 | HG01071.hp2 HG01074.hp2 HG01516.hp2 others(2): Show |
intron_variant | MODIFIER | c.53+10714C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117490861 | ||||||
| chr7:117491130
|
C | T | 18 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0151others(15): Show | 18 | HG01071.hp2 HG01074.hp2 HG01433.hp2 others(15): Show |
intron_variant | MODIFIER | c.53+10983C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117491130 | ||||||
| chr7:117491462
|
T | C | 1 | a0001c0001t0002g0050 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.53+11315T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117491462 | ||||||
| chr7:117491638
|
A | G | 1 | a0002c0002t0001g0110 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.53+11491A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117491638 | ||||||
| chr7:117491924
|
G | A | 1 | a0001c0004t0002g0016 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.53+11777G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117491924 | ||||||
| chr7:117492039
|
G | A | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.53+11892G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117492039 | ||||||
| chr7:117492044
|
T | A | 70 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(67): Show | 70 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(67): Show |
intron_variant | MODIFIER | c.53+11897T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117492044 | ||||||
| chr7:117492125
|
A | G | 71 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(68): Show | 71 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(68): Show |
intron_variant | MODIFIER | c.53+11978A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117492125 | ||||||
| chr7:117492167
|
G | A | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.53+12020G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117492167 | ||||||
| chr7:117492275
|
A | G | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.54-11978A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117492275 | ||||||
| chr7:117492361
|
T | C | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.54-11892T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117492361 | ||||||
| chr7:117492466
|
T | A | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.54-11787T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117492466 | ||||||
| chr7:117492736
|
C | G | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.54-11517C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117492736 | ||||||
| chr7:117492865
|
A | G | 26 | a0001c0001t0004g0135a0001c0001t0004g0138a0001c0003t0003g0001others(23): Show | 27 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(24): Show |
intron_variant | MODIFIER | c.54-11388A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117492865 | ||||||
| chr7:117493331
|
C | A | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.54-10922C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117493331 | ||||||
| chr7:117493359
|
G | GA | 9 | a0001c0003t0003g0141a0001c0004t0002g0124a0001c0004t0002g0125others(6): Show | 9 | HG01433.hp1 HG02647.hp1 HG02647.hp2 others(6): Show |
intron_variant | MODIFIER | c.54-10886dupA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117493359 | |||||
| chr7:117493666
|
T | C | 52 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(49): Show | 52 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(49): Show |
intron_variant | MODIFIER | c.54-10587T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117493666 | ||||||
| chr7:117493832
|
G | T | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.54-10421G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117493832 | ||||||
| chr7:117494069
|
C | A | 1 | a0002c0002t0001g0085 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.54-10184C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117494069 | ||||||
| chr7:117494110
|
A | G | 1 | a0001c0004t0001g0017 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.54-10143A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117494110 | ||||||
| chr7:117494438
|
TC | T | 136 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(133): Show | 137 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(134): Show |
intron_variant | MODIFIER | c.54-9813delC | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117494438 | |||||
| chr7:117494463
|
C | G | 76 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(73): Show | 76 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(73): Show |
intron_variant | MODIFIER | c.54-9790C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117494463 | ||||||
| chr7:117494495
|
A | G | 1 | a0008c0014t0002g0027 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.54-9758A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117494495 | ||||||
| chr7:117494580
|
G | A | 71 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(68): Show | 71 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(68): Show |
intron_variant | MODIFIER | c.54-9673G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117494580 | ||||||
| chr7:117494666
|
C | T | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.54-9587C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117494666 | ||||||
| chr7:117494755
|
C | A | 1 | a0002c0002t0001g0159 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.54-9498C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117494755 | ||||||
| chr7:117494971
|
G | C | 70 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(67): Show | 70 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(67): Show |
intron_variant | MODIFIER | c.54-9282G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117494971 | ||||||
| chr7:117495158
|
C | T | 6 | a0001c0004t0001g0006a0001c0004t0001g0007a0001c0004t0001g0010others(3): Show | 6 | HG01071.hp2 HG01074.hp2 HG01516.hp2 others(3): Show |
intron_variant | MODIFIER | c.54-9095C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117495158 | ||||||
| chr7:117495182
|
C | T | 1 | a0001c0003t0003g0026 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.54-9071C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117495182 | ||||||
| chr7:117495338
|
C | A | 2 | a0001c0001t0002g0117a0001c0001t0004g0118 | 2 | HG02723.hp2 HG02886.hp1 |
intron_variant | MODIFIER | c.54-8915C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117495338 | ||||||
| chr7:117495424
|
T | G | 1 | a0001c0001t0002g0050 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.54-8829T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117495424 | ||||||
| chr7:117495670
|
A | C | 1 | a0001c0001t0002g0177 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.54-8583A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117495670 | ||||||
| chr7:117496005
|
A | G | 3 | a0001c0006t0006g0005a0001c0006t0006g0013a0001c0006t0006g0014 | 3 | HG02970.hp2 NA19030.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.54-8248A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117496005 | ||||||
| chr7:117496029
|
T | C | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.54-8224T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117496029 | ||||||
| chr7:117496089
|
G | A | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.54-8164G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117496089 | ||||||
| chr7:117496156
|
A | AT | 19 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0123others(16): Show | 19 | HG01071.hp2 HG01074.hp2 HG01433.hp2 others(16): Show |
intron_variant | MODIFIER | c.54-8089dupT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117496156 | |||||
| chr7:117496198
|
G | A | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.54-8055G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117496198 | ||||||
| chr7:117496664
|
A | T | 10 | a0001c0001t0002g0075a0001c0001t0002g0076a0001c0001t0002g0077others(7): Show | 10 | HG01891.hp1 HG02109.hp2 HG02258.hp2 others(7): Show |
intron_variant | MODIFIER | c.54-7589A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117496664 | ||||||
| chr7:117496692
|
C | T | 2 | a0001c0004t0001g0017a0001c0004t0002g0016 | 2 | HG02109.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.54-7561C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117496692 | ||||||
| chr7:117496804
|
T | G | 75 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(72): Show | 75 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(72): Show |
intron_variant | MODIFIER | c.54-7449T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117496804 | ||||||
| chr7:117497346
|
A | C | 75 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(72): Show | 75 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(72): Show |
intron_variant | MODIFIER | c.54-6907A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117497346 | ||||||
| chr7:117497428
|
A | G | 1 | a0001c0001t0002g0050 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.54-6825A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117497428 | ||||||
| chr7:117497447
|
G | T | 2 | a0002c0002t0001g0188a0002c0002t0001g0189 | 2 | NA19065.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.54-6806G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117497447 | ||||||
| chr7:117497716
|
T | A | 1 | a0001c0006t0003g0015 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.54-6537T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117497716 | ||||||
| chr7:117497809
|
T | C | 1 | a0001c0001t0002g0063 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.54-6444T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117497809 | ||||||
| chr7:117498085
|
A | G | 1 | a0002c0002t0001g0108 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.54-6168A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117498085 | ||||||
| chr7:117498118
|
C | T | 3 | a0001c0006t0003g0142a0001c0006t0003g0193a0001c0019t0003g0192 | 3 | HG02258.hp1 HG02280.hp2 HG02559.hp1 |
intron_variant | MODIFIER | c.54-6135C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117498118 | ||||||
| chr7:117498359
|
C | T | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.54-5894C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117498359 | ||||||
| chr7:117498688
|
C | A | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.54-5565C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117498688 | ||||||
| chr7:117498768
|
A | C | 1 | a0001c0005t0003g0156 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.54-5485A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117498768 | ||||||
| chr7:117498769
|
A | G | 6 | a0001c0001t0002g0042a0001c0001t0002g0043a0001c0001t0002g0044others(3): Show | 6 | HG02027.hp2 NA18968.hp1 NA18982.hp1 others(3): Show |
intron_variant | MODIFIER | c.54-5484A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117498769 | ||||||
| chr7:117498893
|
A | G | 75 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(72): Show | 75 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(72): Show |
intron_variant | MODIFIER | c.54-5360A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117498893 | ||||||
| chr7:117498956
|
A | G | 1 | a0001c0001t0011g0049 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.54-5297A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117498956 | ||||||
| chr7:117499186
|
C | T | 5 | a0001c0001t0002g0151a0001c0005t0003g0149a0001c0005t0003g0150others(2): Show | 5 | HG02818.hp2 HG02886.hp2 HG03017.hp2 others(2): Show |
intron_variant | MODIFIER | c.54-5067C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117499186 | ||||||
| chr7:117499225
|
G | A | 1 | a0001c0001t0002g0051 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.54-5028G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117499225 | ||||||
| chr7:117499429
|
C | CTG | 10 | a0001c0001t0002g0151a0001c0001t0004g0009a0001c0004t0001g0006others(7): Show | 10 | HG01071.hp2 HG01074.hp2 HG02523.hp2 others(7): Show |
intron_variant | MODIFIER | c.54-4792_54-4791dup others(2): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117499429 | |||||
| chr7:117499429
|
C | CTGTG | 7 | a0001c0001t0002g0046a0001c0001t0002g0063a0001c0001t0002g0199others(4): Show | 7 | HG02965.hp2 HG03017.hp1 HG03139.hp1 others(4): Show |
intron_variant | MODIFIER | c.54-4794_54-4791dup others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117499429 | |||||
| chr7:117499429
|
C | CTGTGTG | 52 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(49): Show | 52 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(49): Show |
intron_variant | MODIFIER | c.54-4796_54-4791dup others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117499429 | |||||
| chr7:117499429
|
C | CTGTGTGT others(1): Show |
9 | a0001c0001t0004g0138a0001c0003t0003g0021a0001c0003t0003g0141others(6): Show | 9 | HG01070.hp1 HG01071.hp1 HG01074.hp1 others(6): Show |
intron_variant | MODIFIER | c.54-4798_54-4791dup others(8): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117499429 | |||||
| chr7:117499429
|
C | CTGTGTGT others(3): Show |
17 | a0001c0001t0002g0195a0001c0001t0004g0018a0001c0001t0004g0135others(14): Show | 17 | HG00323.hp1 HG01123.hp1 HG01243.hp1 others(14): Show |
intron_variant | MODIFIER | c.54-4800_54-4791dup others(10): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117499429 | |||||
| chr7:117499429
|
C | CTGTGTGT others(5): Show |
17 | a0001c0001t0002g0004a0001c0001t0002g0122a0001c0001t0004g0072others(14): Show | 17 | HG00642.hp2 HG01175.hp1 HG01943.hp2 others(14): Show |
intron_variant | MODIFIER | c.54-4802_54-4791dup others(12): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117499429 | |||||
| chr7:117499429
|
C | CTGTGTGT others(7): Show |
17 | a0001c0001t0002g0075a0001c0001t0002g0076a0001c0001t0002g0077others(14): Show | 18 | HG01257.hp1 HG01258.hp1 HG01891.hp1 others(15): Show |
intron_variant | MODIFIER | c.54-4804_54-4791dup others(14): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117499429 | |||||
| chr7:117499429
|
C | CTGTGTGT others(9): Show |
3 | a0001c0001t0002g0117a0001c0001t0002g0176a0009c0015t0003g0074 | 3 | HG01243.hp2 HG02886.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.54-4806_54-4791dup others(16): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117499429 | |||||
| chr7:117499429
|
C | CTGTGTGT others(11): Show |
1 | a0001c0004t0002g0115 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.54-4808_54-4791dup others(18): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117499429 | |||||
| chr7:117499429
|
C | CTGTGTGT others(13): Show |
1 | a0001c0001t0002g0177 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.54-4810_54-4791dup others(20): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117499429 | |||||
| chr7:117499462
|
T | TG | 2 | a0002c0002t0001g0111a0002c0002t0001g0159 | 2 | HG01192.hp1 HG04184.hp2 |
intron_variant | MODIFIER | c.54-4791_54-4790ins others(1): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117499462 | ||||||
| chr7:117499462
|
T | TGTGTGTG others(8): Show |
2 | a0001c0001t0002g0003a0001c0004t0002g0128 | 2 | HG01433.hp1 HG01433.hp2 |
intron_variant | MODIFIER | c.54-4791_54-4790ins others(15): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117499462 | ||||||
| chr7:117499484
|
C | A | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.54-4769C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117499484 | ||||||
| chr7:117499651
|
G | C | 2 | a0002c0002t0001g0108a0002c0002t0001g0171 | 2 | HG03239.hp2 HG03688.hp1 |
intron_variant | MODIFIER | c.54-4602G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117499651 | ||||||
| chr7:117500041
|
C | T | 70 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(67): Show | 70 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(67): Show |
intron_variant | MODIFIER | c.54-4212C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117500041 | ||||||
| chr7:117500134
|
C | T | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.54-4119C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117500134 | ||||||
| chr7:117500278
|
C | A | 1 | a0001c0003t0003g0001 | 2 | HG01257.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.54-3975C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117500278 | ||||||
| chr7:117500278
|
C | CT | 15 | a0001c0001t0002g0121a0001c0001t0004g0127a0001c0003t0003g0141others(12): Show | 15 | HG00609.hp1 HG01123.hp1 HG02027.hp1 others(12): Show |
intron_variant | MODIFIER | c.54-3950dupT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117500278 | |||||
| chr7:117500278
|
CT | C | 53 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(50): Show | 53 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(50): Show |
intron_variant | MODIFIER | c.54-3950delT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117500278 | |||||
| chr7:117500278
|
CTTTTTTT others(7): Show |
C | 18 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0151others(15): Show | 18 | HG01071.hp2 HG01074.hp2 HG01433.hp2 others(15): Show |
intron_variant | MODIFIER | c.54-3963_54-3950del others(14): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117500278 | |||||
| chr7:117500343
|
A | C | 1 | a0002c0002t0001g0105 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.54-3910A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117500343 | ||||||
| chr7:117500439
|
C | T | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.54-3814C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117500439 | ||||||
| chr7:117500441
|
C | T | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.54-3812C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117500441 | ||||||
| chr7:117500580
|
G | A | 3 | a0002c0002t0001g0086a0002c0002t0001g0110a0002c0002t0001g0160 | 3 | HG00099.hp2 HG00140.hp2 HG02257.hp2 |
intron_variant | MODIFIER | c.54-3673G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117500580 | ||||||
| chr7:117500923
|
G | T | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.54-3330G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117500923 | ||||||
| chr7:117501034
|
C | A | 3 | a0001c0003t0003g0113a0001c0003t0003g0114a0001c0003t0003g0178 | 3 | HG02723.hp1 HG02818.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.54-3219C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117501034 | ||||||
| chr7:117501711
|
C | T | 1 | a0001c0003t0003g0184 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.54-2542C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117501711 | ||||||
| chr7:117501747
|
C | CA | 11 | a0001c0003t0003g0144a0001c0003t0003g0184a0001c0004t0002g0131others(8): Show | 11 | HG00642.hp2 HG01192.hp1 HG02080.hp1 others(8): Show |
intron_variant | MODIFIER | c.54-2482dupA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117501747 | |||||
| chr7:117501747
|
CA | C | 49 | a0001c0001t0002g0022a0001c0001t0002g0075a0001c0001t0002g0076others(46): Show | 49 | HG01071.hp2 HG01074.hp2 HG01243.hp2 others(46): Show |
intron_variant | MODIFIER | c.54-2482delA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117501747 | |||||
| chr7:117501747
|
CAA | C | 47 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(44): Show | 47 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(44): Show |
intron_variant | MODIFIER | c.54-2483_54-2482del others(2): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117501747 | |||||
| chr7:117501768
|
A | G | 2 | a0001c0004t0001g0017a0001c0004t0002g0016 | 2 | HG02109.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.54-2485A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117501768 | ||||||
| chr7:117501776
|
CA | C | 7 | a0002c0002t0001g0102a0002c0002t0001g0103a0002c0002t0001g0104others(4): Show | 7 | HG01496.hp2 HG02129.hp1 HG02132.hp2 others(4): Show |
intron_variant | MODIFIER | c.54-2461delA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117501776 | |||||
| chr7:117501780
|
A | C | 1 | a0002c0002t0008g0162 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.54-2473A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117501780 | ||||||
| chr7:117501781
|
A | C | 37 | a0001c0003t0003g0001a0001c0003t0003g0113a0001c0003t0003g0114others(34): Show | 38 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(35): Show |
intron_variant | MODIFIER | c.54-2472A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117501781 | ||||||
| chr7:117501786
|
A | AC | 9 | a0001c0001t0002g0151a0001c0001t0002g0195a0001c0005t0003g0149others(6): Show | 9 | HG02145.hp2 HG02818.hp2 HG02886.hp2 others(6): Show |
intron_variant | MODIFIER | c.54-2467_54-2466ins others(1): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117501786 | ||||||
| chr7:117501786
|
A | C | 93 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(90): Show | 93 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(90): Show |
intron_variant | MODIFIER | c.54-2467A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117501786 | ||||||
| chr7:117501793
|
C | A | 1 | a0002c0002t0001g0089 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.54-2460C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117501793 | ||||||
| chr7:117501799
|
G | GCAAA | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.54-2445_54-2442dup others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | 117501799 | |||||
| chr7:117501965
|
C | T | 1 | a0001c0003t0003g0141 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.54-2288C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117501965 | ||||||
| chr7:117501983
|
T | C | 1 | a0002c0002t0001g0174 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.54-2270T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117501983 | ||||||
| chr7:117501993
|
T | C | 2 | a0001c0004t0001g0017a0001c0004t0002g0016 | 2 | HG02109.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.54-2260T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117501993 | ||||||
| chr7:117502035
|
T | C | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.54-2218T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117502035 | ||||||
| chr7:117502047
|
G | A | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.54-2206G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117502047 | ||||||
| chr7:117502230
|
T | C | 1 | a0001c0001t0009g0052 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.54-2023T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117502230 | ||||||
| chr7:117502422
|
G | A | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.54-1831G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117502422 | ||||||
| chr7:117502461
|
C | G | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.54-1792C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117502461 | ||||||
| chr7:117503376
|
A | G | 3 | a0001c0003t0003g0187a0001c0003t0003g0190a0001c0004t0001g0143 | 3 | HG02451.hp1 HG02809.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.54-877A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117503376 | ||||||
| chr7:117503515
|
A | G | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.54-738A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117503515 | ||||||
| chr7:117503548
|
C | G | 76 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(73): Show | 76 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(73): Show |
intron_variant | MODIFIER | c.54-705C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117503548 | ||||||
| chr7:117503664
|
A | G | 10 | a0001c0004t0001g0006a0001c0004t0001g0007a0001c0004t0001g0010others(7): Show | 10 | HG01071.hp2 HG01074.hp2 HG01516.hp2 others(7): Show |
intron_variant | MODIFIER | c.54-589A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117503664 | ||||||
| chr7:117504014
|
T | A | 1 | a0001c0003t0003g0048 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.54-239T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117504014 | ||||||
| chr7:117504076
|
T | A | 2 | a0001c0001t0002g0003a0001c0001t0002g0004 | 2 | HG01433.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.54-177T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | chr7 | 117504076 | ||||||
| chr7:117504391
|
A | G | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.164+28A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117504391 | ||||||
| chr7:117504756
|
T | TA | 40 | a0001c0001t0002g0050a0001c0001t0002g0075a0001c0001t0002g0076others(37): Show | 40 | HG01243.hp2 HG01891.hp1 HG01993.hp2 others(37): Show |
intron_variant | MODIFIER | c.164+410dupA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr7 | 117504756 | |||||
| chr7:117504756
|
T | TAA | 27 | a0001c0003t0003g0001a0001c0003t0003g0116a0001c0003t0003g0134others(24): Show | 28 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(25): Show |
intron_variant | MODIFIER | c.164+409_164+410dup others(2): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr7 | 117504756 | |||||
| chr7:117504756
|
TA | T | 15 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0004g0009others(12): Show | 15 | HG01071.hp2 HG01074.hp2 HG01257.hp2 others(12): Show |
intron_variant | MODIFIER | c.164+410delA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr7 | 117504756 | |||||
| chr7:117504845
|
C | T | 1 | a0001c0001t0001g0039 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.164+482C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117504845 | ||||||
| chr7:117505048
|
T | C | 1 | a0002c0002t0001g0092 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.164+685T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117505048 | ||||||
| chr7:117505311
|
T | C | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.164+948T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117505311 | ||||||
| chr7:117505325
|
A | G | 1 | a0010c0018t0005g0028 | 1 | NA18992.hp2 | intron_variant | MODIFIER | c.164+962A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117505325 | ||||||
| chr7:117505566
|
C | T | 1 | a0001c0004t0002g0115 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.164+1203C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117505566 | ||||||
| chr7:117505610
|
A | G | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.164+1247A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117505610 | ||||||
| chr7:117505646
|
A | C | 1 | a0001c0001t0002g0051 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.164+1283A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117505646 | ||||||
| chr7:117506114
|
G | A | 1 | a0001c0003t0003g0001 | 2 | HG01257.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.164+1751G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117506114 | ||||||
| chr7:117506337
|
C | T | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.164+1974C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117506337 | ||||||
| chr7:117506339
|
T | C | 76 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(73): Show | 76 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(73): Show |
intron_variant | MODIFIER | c.164+1976T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117506339 | ||||||
| chr7:117506359
|
G | C | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.164+1996G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117506359 | ||||||
| chr7:117506371
|
C | T | 1 | a0001c0001t0002g0117 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.164+2008C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117506371 | ||||||
| chr7:117506394
|
T | C | 76 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(73): Show | 76 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(73): Show |
intron_variant | MODIFIER | c.164+2031T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117506394 | ||||||
| chr7:117506436
|
G | A | 1 | a0001c0001t0004g0118 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.164+2073G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117506436 | ||||||
| chr7:117506466
|
G | A | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.164+2103G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117506466 | ||||||
| chr7:117506482
|
G | A | 2 | a0001c0001t0002g0023a0008c0014t0002g0027 | 2 | NA18960.hp1 NA18990.hp2 |
intron_variant | MODIFIER | c.164+2119G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117506482 | ||||||
| chr7:117506511
|
G | T | 2 | a0002c0002t0001g0188a0002c0002t0001g0189 | 2 | NA19065.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.164+2148G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117506511 | ||||||
| chr7:117506790
|
G | T | 18 | a0001c0001t0002g0075a0001c0001t0002g0076a0001c0001t0002g0077others(15): Show | 18 | HG01243.hp2 HG01891.hp1 HG02109.hp2 others(15): Show |
intron_variant | MODIFIER | c.165-2244G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117506790 | ||||||
| chr7:117506883
|
G | C | 8 | a0001c0004t0002g0124a0001c0004t0002g0125a0001c0004t0002g0128others(5): Show | 8 | HG01433.hp1 HG02647.hp1 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.165-2151G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117506883 | ||||||
| chr7:117507151
|
T | C | 72 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(69): Show | 72 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(69): Show |
intron_variant | MODIFIER | c.165-1883T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117507151 | ||||||
| chr7:117507446
|
C | G | 139 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(136): Show | 140 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(137): Show |
intron_variant | MODIFIER | c.165-1588C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117507446 | ||||||
| chr7:117507493
|
C | T | 71 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(68): Show | 71 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(68): Show |
intron_variant | MODIFIER | c.165-1541C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117507493 | ||||||
| chr7:117507809
|
T | A | 1 | a0002c0002t0001g0069 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.165-1225T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117507809 | ||||||
| chr7:117507895
|
G | A | 2 | a0001c0003t0003g0113a0001c0003t0003g0114 | 2 | HG02723.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.165-1139G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117507895 | ||||||
| chr7:117508071
|
G | A | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.165-963G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117508071 | ||||||
| chr7:117508084
|
T | G | 1 | a0002c0002t0001g0081 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.165-950T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117508084 | ||||||
| chr7:117508342
|
A | G | 3 | a0001c0006t0003g0142a0001c0006t0003g0193a0001c0019t0003g0192 | 3 | HG02258.hp1 HG02280.hp2 HG02559.hp1 |
intron_variant | MODIFIER | c.165-692A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 2/26 | chr7 | 117508342 | ||||||
| chr7:117509228
|
T | C | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.273+86T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117509228 | ||||||
| chr7:117509228
|
T | G | 5 | a0001c0001t0004g0072a0001c0001t0004g0126a0001c0001t0004g0135others(2): Show | 5 | HG02647.hp2 HG02922.hp1 HG03225.hp1 others(2): Show |
intron_variant | MODIFIER | c.273+86T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117509228 | ||||||
| chr7:117509357
|
A | G | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.273+215A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117509357 | ||||||
| chr7:117509531
|
T | G | 1 | a0001c0001t0002g0029 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.273+389T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117509531 | ||||||
| chr7:117509897
|
G | A | 1 | a0001c0005t0003g0194 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.273+755G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117509897 | ||||||
| chr7:117509997
|
G | A | 1 | a0001c0001t0002g0195 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.273+855G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117509997 | ||||||
| chr7:117510021
|
C | A | 72 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(69): Show | 72 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(69): Show |
intron_variant | MODIFIER | c.273+879C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117510021 | ||||||
| chr7:117510030
|
A | G | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.273+888A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117510030 | ||||||
| chr7:117510064
|
G | C | 76 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(73): Show | 76 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(73): Show |
intron_variant | MODIFIER | c.273+922G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117510064 | ||||||
| chr7:117510075
|
C | T | 76 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(73): Show | 76 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(73): Show |
intron_variant | MODIFIER | c.273+933C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117510075 | ||||||
| chr7:117510076
|
C | T | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.273+934C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117510076 | ||||||
| chr7:117510258
|
C | T | 1 | a0002c0002t0001g0200 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.273+1116C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117510258 | ||||||
| chr7:117510422
|
A | T | 1 | a0001c0003t0003g0114 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.273+1280A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117510422 | ||||||
| chr7:117510454
|
G | A | 1 | a0001c0005t0003g0197 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.273+1312G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117510454 | ||||||
| chr7:117511162
|
A | C | 6 | a0001c0001t0002g0151a0001c0004t0003g0191a0001c0005t0003g0149others(3): Show | 6 | HG01496.hp1 HG02818.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.273+2020A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117511162 | ||||||
| chr7:117511652
|
G | A | 1 | a0009c0015t0003g0074 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.273+2510G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117511652 | ||||||
| chr7:117511706
|
C | T | 1 | a0002c0002t0002g0088 | 1 | NA19072.hp2 | intron_variant | MODIFIER | c.273+2564C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117511706 | ||||||
| chr7:117511774
|
A | C | 136 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(133): Show | 137 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(134): Show |
intron_variant | MODIFIER | c.273+2632A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117511774 | ||||||
| chr7:117511860
|
G | C | 4 | a0002c0002t0001g0090a0002c0002t0001g0111a0002c0002t0001g0157others(1): Show | 4 | HG01192.hp1 HG01993.hp2 HG02056.hp1 others(1): Show |
intron_variant | MODIFIER | c.273+2718G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117511860 | ||||||
| chr7:117512097
|
G | C | 1 | a0001c0003t0003g0155 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.273+2955G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117512097 | ||||||
| chr7:117512249
|
T | A | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.273+3107T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117512249 | ||||||
| chr7:117512355
|
C | T | 5 | a0001c0001t0002g0151a0001c0005t0003g0149a0001c0005t0003g0150others(2): Show | 5 | HG02818.hp2 HG02886.hp2 HG03017.hp2 others(2): Show |
intron_variant | MODIFIER | c.273+3213C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117512355 | ||||||
| chr7:117512621
|
G | A | 51 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(48): Show | 51 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(48): Show |
intron_variant | MODIFIER | c.273+3479G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117512621 | ||||||
| chr7:117512633
|
C | CA | 8 | a0001c0004t0002g0132a0001c0006t0003g0198a0002c0002t0001g0080others(5): Show | 8 | HG01123.hp2 HG01943.hp1 HG02056.hp1 others(5): Show |
intron_variant | MODIFIER | c.273+3512dupA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117512633 | |||||
| chr7:117512633
|
C | CAA | 6 | a0001c0004t0002g0124a0001c0004t0002g0125a0001c0004t0002g0128others(3): Show | 6 | HG01433.hp1 HG02647.hp1 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.273+3511_273+3512d others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117512633 | |||||
| chr7:117512633
|
CA | C | 123 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(120): Show | 124 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(121): Show |
intron_variant | MODIFIER | c.273+3512delA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117512633 | |||||
| chr7:117513244
|
G | A | 1 | a0001c0017t0001g0064 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.273+4102G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117513244 | ||||||
| chr7:117513311
|
C | G | 3 | a0001c0004t0002g0137a0001c0004t0002g0140a0001c0004t0002g0186 | 3 | HG01074.hp1 HG01192.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.273+4169C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117513311 | ||||||
| chr7:117513437
|
G | GA | 129 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(126): Show | 130 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.273+4309dupA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117513437 | |||||
| chr7:117513531
|
G | A | 2 | a0001c0006t0006g0013a0001c0006t0006g0014 | 2 | HG02970.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.273+4389G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117513531 | ||||||
| chr7:117514105
|
G | A | 72 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(69): Show | 72 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(69): Show |
intron_variant | MODIFIER | c.273+4963G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117514105 | ||||||
| chr7:117514171
|
A | AT | 52 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(49): Show | 52 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(49): Show |
intron_variant | MODIFIER | c.273+5039dupT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117514171 | |||||
| chr7:117514383
|
C | T | 1 | a0009c0015t0003g0074 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.273+5241C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117514383 | ||||||
| chr7:117514550
|
G | T | 1 | a0001c0001t0004g0182 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.273+5408G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117514550 | ||||||
| chr7:117514666
|
A | G | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.273+5524A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117514666 | ||||||
| chr7:117514788
|
G | A | 1 | a0001c0001t0005g0047 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.273+5646G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117514788 | ||||||
| chr7:117514924
|
T | G | 2 | a0001c0004t0001g0017a0001c0004t0002g0016 | 2 | HG02109.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.273+5782T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117514924 | ||||||
| chr7:117514944
|
A | C | 72 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(69): Show | 72 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(69): Show |
intron_variant | MODIFIER | c.273+5802A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117514944 | ||||||
| chr7:117514970
|
G | T | 2 | a0001c0004t0001g0017a0001c0004t0002g0016 | 2 | HG02109.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.273+5828G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117514970 | ||||||
| chr7:117515211
|
G | A | 1 | a0002c0002t0001g0069 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.273+6069G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117515211 | ||||||
| chr7:117515596
|
G | C | 5 | a0001c0001t0002g0151a0001c0005t0003g0149a0001c0005t0003g0150others(2): Show | 5 | HG02818.hp2 HG02886.hp2 HG03017.hp2 others(2): Show |
intron_variant | MODIFIER | c.273+6454G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117515596 | ||||||
| chr7:117515600
|
T | C | 1 | a0001c0001t0004g0018 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.273+6458T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117515600 | ||||||
| chr7:117515780
|
G | A | 1 | a0007c0024t0003g0148 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.273+6638G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117515780 | ||||||
| chr7:117515789
|
A | G | 76 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(73): Show | 76 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(73): Show |
intron_variant | MODIFIER | c.273+6647A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117515789 | ||||||
| chr7:117516162
|
G | A | 5 | a0001c0001t0002g0151a0001c0005t0003g0149a0001c0005t0003g0150others(2): Show | 5 | HG02818.hp2 HG02886.hp2 HG03017.hp2 others(2): Show |
intron_variant | MODIFIER | c.273+7020G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117516162 | ||||||
| chr7:117516287
|
T | C | 57 | a0001c0001t0002g0075a0001c0001t0002g0076a0001c0001t0002g0077others(54): Show | 58 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(55): Show |
intron_variant | MODIFIER | c.273+7145T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117516287 | ||||||
| chr7:117516385
|
T | A | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.273+7243T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117516385 | ||||||
| chr7:117516547
|
T | C | 1 | a0001c0004t0002g0115 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.273+7405T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117516547 | ||||||
| chr7:117516608
|
G | A | 1 | a0001c0001t0004g0182 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.273+7466G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117516608 | ||||||
| chr7:117516755
|
A | T | 1 | a0001c0001t0002g0062 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.273+7613A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117516755 | ||||||
| chr7:117516869
|
T | G | 71 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(68): Show | 71 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(68): Show |
intron_variant | MODIFIER | c.273+7727T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117516869 | ||||||
| chr7:117516892
|
T | C | 1 | a0001c0003t0003g0187 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.273+7750T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117516892 | ||||||
| chr7:117516935
|
C | T | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.273+7793C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117516935 | ||||||
| chr7:117517143
|
G | A | 3 | a0002c0002t0001g0095a0002c0002t0001g0096a0002c0002t0001g0164 | 3 | NA18966.hp1 NA19060.hp1 NA19091.hp2 |
intron_variant | MODIFIER | c.273+8001G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117517143 | ||||||
| chr7:117517499
|
C | T | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.273+8357C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117517499 | ||||||
| chr7:117517705
|
C | T | 2 | a0001c0004t0002g0137a0001c0004t0002g0186 | 2 | HG01074.hp1 HG01192.hp2 |
intron_variant | MODIFIER | c.273+8563C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117517705 | ||||||
| chr7:117517706
|
G | A | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.273+8564G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117517706 | ||||||
| chr7:117517753
|
C | T | 1 | a0001c0001t0002g0022 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.273+8611C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117517753 | ||||||
| chr7:117517774
|
T | C | 31 | a0001c0001t0002g0075a0001c0001t0002g0076a0001c0001t0002g0077others(28): Show | 31 | HG01243.hp2 HG01433.hp1 HG01891.hp1 others(28): Show |
intron_variant | MODIFIER | c.273+8632T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117517774 | ||||||
| chr7:117517820
|
T | C | 3 | a0001c0001t0004g0018a0001c0001t0004g0127a0001c0001t0004g0182 | 3 | HG03130.hp2 HG03209.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.273+8678T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117517820 | ||||||
| chr7:117517826
|
C | CAT | 76 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(73): Show | 76 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(73): Show |
intron_variant | MODIFIER | c.273+8685_273+8686d others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117517826 | |||||
| chr7:117518054
|
AGTT | A | 12 | a0001c0003t0003g0116a0001c0003t0003g0134a0001c0003t0003g0155others(9): Show | 12 | HG00323.hp1 HG01070.hp1 HG01071.hp1 others(9): Show |
intron_variant | MODIFIER | c.273+8918_273+8920d others(5): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117518054 | |||||
| chr7:117518161
|
G | C | 17 | a0002c0002t0001g0041a0002c0002t0001g0069a0002c0002t0001g0070others(14): Show | 17 | HG01192.hp1 HG01993.hp2 HG02040.hp1 others(14): Show |
intron_variant | MODIFIER | c.273+9019G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117518161 | ||||||
| chr7:117518331
|
CAT | C | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.273+9192_273+9193d others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117518331 | |||||
| chr7:117518569
|
C | CAT | 23 | a0001c0001t0002g0117a0001c0001t0002g0120a0001c0001t0002g0121others(20): Show | 23 | HG01243.hp2 HG01433.hp1 HG02109.hp2 others(20): Show |
intron_variant | MODIFIER | c.273+9446_273+9447d others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117518569 | |||||
| chr7:117518569
|
C | CATAT | 7 | a0001c0001t0002g0075a0001c0001t0002g0076a0001c0001t0002g0077others(4): Show | 7 | HG02258.hp2 HG02895.hp2 HG02896.hp2 others(4): Show |
intron_variant | MODIFIER | c.273+9444_273+9447d others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117518569 | |||||
| chr7:117518569
|
C | CATATATA others(1): Show |
3 | a0001c0005t0003g0194a0001c0005t0003g0196a0001c0005t0003g0197 | 3 | HG02145.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.273+9440_273+9447d others(10): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117518569 | |||||
| chr7:117518569
|
C | CATATATA others(3): Show |
1 | a0001c0001t0002g0195 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.273+9438_273+9447d others(12): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117518569 | |||||
| chr7:117518569
|
CAT | C | 7 | a0001c0003t0003g0116a0001c0003t0003g0134a0001c0003t0003g0155others(4): Show | 7 | HG00323.hp1 HG01123.hp1 HG01175.hp1 others(4): Show |
intron_variant | MODIFIER | c.273+9446_273+9447d others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117518569 | |||||
| chr7:117518586
|
A | ATG | 2 | a0001c0001t0002g0199a0001c0005t0006g0038 | 2 | HG03654.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.273+9445_273+9446i others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117518586 | |||||
| chr7:117518588
|
A | ATG | 3 | a0001c0001t0004g0009a0001c0005t0003g0156a0001c0006t0003g0142 | 3 | HG02280.hp2 HG03098.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.273+9452_273+9453d others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117518588 | |||||
| chr7:117518588
|
A | G | 98 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(95): Show | 99 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(96): Show |
intron_variant | MODIFIER | c.273+9446A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117518588 | ||||||
| chr7:117518691
|
G | A | 3 | a0001c0003t0003g0180a0001c0003t0003g0181a0001c0003t0003g0185 | 3 | HG01070.hp1 HG01071.hp1 HG01346.hp2 |
intron_variant | MODIFIER | c.273+9549G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117518691 | ||||||
| chr7:117519103
|
T | C | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.273+9961T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117519103 | ||||||
| chr7:117519434
|
A | G | 1 | a0001c0001t0002g0045 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.273+10292A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117519434 | ||||||
| chr7:117519507
|
G | A | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.273+10365G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117519507 | ||||||
| chr7:117519602
|
A | G | 26 | a0001c0001t0002g0075a0001c0001t0002g0076a0001c0001t0002g0077others(23): Show | 26 | HG01243.hp2 HG01433.hp1 HG01891.hp1 others(23): Show |
intron_variant | MODIFIER | c.273+10460A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117519602 | ||||||
| chr7:117519706
|
C | G | 1 | a0002c0002t0001g0081 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.273+10564C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117519706 | ||||||
| chr7:117519768
|
A | G | 1 | a0002c0002t0001g0157 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.273+10626A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117519768 | ||||||
| chr7:117519956
|
T | A | 1 | a0001c0001t0002g0122 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.273+10814T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117519956 | ||||||
| chr7:117520265
|
G | GT | 10 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0030others(7): Show | 10 | HG01074.hp1 HG01192.hp2 HG01243.hp2 others(7): Show |
intron_variant | MODIFIER | c.274-10617dupT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117520265 | |||||
| chr7:117520265
|
GT | G | 5 | a0001c0001t0002g0120a0001c0001t0002g0179a0001c0001t0005g0059others(2): Show | 5 | HG00642.hp2 HG02451.hp2 HG03139.hp2 others(2): Show |
intron_variant | MODIFIER | c.274-10617delT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117520265 | |||||
| chr7:117520934
|
A | G | 72 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(69): Show | 72 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(69): Show |
intron_variant | MODIFIER | c.274-9965A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117520934 | ||||||
| chr7:117521599
|
T | G | 136 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(133): Show | 137 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(134): Show |
intron_variant | MODIFIER | c.274-9300T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117521599 | ||||||
| chr7:117521805
|
G | A | 1 | a0001c0006t0003g0193 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.274-9094G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117521805 | ||||||
| chr7:117521990
|
G | A | 1 | a0001c0003t0003g0113 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.274-8909G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117521990 | ||||||
| chr7:117522032
|
T | A | 1 | a0001c0001t0001g0039 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.274-8867T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117522032 | ||||||
| chr7:117522041
|
T | A | 1 | a0001c0005t0003g0194 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.274-8858T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117522041 | ||||||
| chr7:117522086
|
T | C | 1 | a0002c0002t0001g0087 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.274-8813T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117522086 | ||||||
| chr7:117522410
|
G | A | 1 | a0002c0002t0001g0041 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.274-8489G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117522410 | ||||||
| chr7:117522672
|
G | A | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.274-8227G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117522672 | ||||||
| chr7:117522900
|
A | G | 71 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(68): Show | 71 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(68): Show |
intron_variant | MODIFIER | c.274-7999A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117522900 | ||||||
| chr7:117522979
|
G | C | 13 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0004g0009others(10): Show | 13 | HG01071.hp2 HG01074.hp2 HG01433.hp2 others(10): Show |
intron_variant | MODIFIER | c.274-7920G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117522979 | ||||||
| chr7:117522993
|
T | A | 34 | a0001c0003t0003g0001a0001c0003t0003g0113a0001c0003t0003g0114others(31): Show | 35 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(32): Show |
intron_variant | MODIFIER | c.274-7906T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117522993 | ||||||
| chr7:117523031
|
T | A | 13 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0004g0009others(10): Show | 13 | HG01071.hp2 HG01074.hp2 HG01433.hp2 others(10): Show |
intron_variant | MODIFIER | c.274-7868T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117523031 | ||||||
| chr7:117523145
|
C | T | 1 | a0001c0004t0002g0016 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.274-7754C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117523145 | ||||||
| chr7:117523316
|
C | T | 1 | a0001c0001t0002g0036 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.274-7583C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117523316 | ||||||
| chr7:117523374
|
G | T | 1 | a0001c0001t0001g0068 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.274-7525G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117523374 | ||||||
| chr7:117523381
|
G | GT | 75 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(72): Show | 75 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(72): Show |
intron_variant | MODIFIER | c.274-7505dupT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117523381 | |||||
| chr7:117523381
|
G | GTT | 8 | a0001c0001t0002g0035a0001c0001t0002g0058a0001c0001t0002g0065others(5): Show | 8 | HG03654.hp2 HG03669.hp2 HG03688.hp2 others(5): Show |
intron_variant | MODIFIER | c.274-7506_274-7505d others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117523381 | |||||
| chr7:117523562
|
A | G | 13 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0004g0009others(10): Show | 13 | HG01071.hp2 HG01074.hp2 HG01433.hp2 others(10): Show |
intron_variant | MODIFIER | c.274-7337A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117523562 | ||||||
| chr7:117523602
|
C | A | 5 | a0001c0001t0004g0072a0001c0001t0004g0126a0001c0001t0004g0135others(2): Show | 5 | HG02647.hp2 HG02922.hp1 HG03225.hp1 others(2): Show |
intron_variant | MODIFIER | c.274-7297C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117523602 | ||||||
| chr7:117523620
|
T | G | 76 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(73): Show | 76 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(73): Show |
intron_variant | MODIFIER | c.274-7279T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117523620 | ||||||
| chr7:117524090
|
G | A | 1 | a0001c0004t0002g0008 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.274-6809G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117524090 | ||||||
| chr7:117524148
|
A | T | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.274-6751A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117524148 | ||||||
| chr7:117524385
|
T | C | 60 | a0001c0001t0002g0075a0001c0001t0002g0076a0001c0001t0002g0077others(57): Show | 61 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(58): Show |
intron_variant | MODIFIER | c.274-6514T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117524385 | ||||||
| chr7:117524392
|
G | GA | 7 | a0001c0001t0002g0065a0001c0001t0002g0195a0001c0003t0003g0183others(4): Show | 7 | HG01346.hp1 HG02145.hp1 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.274-6492dupA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117524392 | |||||
| chr7:117524638
|
A | G | 1 | a0001c0001t0005g0025 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.274-6261A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117524638 | ||||||
| chr7:117524716
|
G | A | 13 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0004g0009others(10): Show | 13 | HG01071.hp2 HG01074.hp2 HG01433.hp2 others(10): Show |
intron_variant | MODIFIER | c.274-6183G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117524716 | ||||||
| chr7:117524809
|
T | C | 76 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(73): Show | 76 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(73): Show |
intron_variant | MODIFIER | c.274-6090T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117524809 | ||||||
| chr7:117524901
|
G | C | 1 | a0001c0001t0002g0062 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.274-5998G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117524901 | ||||||
| chr7:117525015
|
C | T | 1 | a0001c0003t0003g0134 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.274-5884C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117525015 | ||||||
| chr7:117525050
|
A | G | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.274-5849A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117525050 | ||||||
| chr7:117525093
|
A | G | 76 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(73): Show | 76 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(73): Show |
intron_variant | MODIFIER | c.274-5806A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117525093 | ||||||
| chr7:117525122
|
C | A | 1 | a0002c0002t0001g0105 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.274-5777C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117525122 | ||||||
| chr7:117525460
|
C | T | 2 | a0002c0002t0001g0161a0012c0022t0001g0091 | 2 | NA18993.hp1 NA19011.hp2 |
intron_variant | MODIFIER | c.274-5439C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117525460 | ||||||
| chr7:117525577
|
G | A | 1 | a0001c0001t0002g0022 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.274-5322G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117525577 | ||||||
| chr7:117525704
|
C | A | 2 | a0001c0001t0004g0018a0001c0001t0004g0127 | 2 | HG03130.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.274-5195C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117525704 | ||||||
| chr7:117525725
|
C | T | 25 | a0001c0001t0002g0075a0001c0001t0002g0076a0001c0001t0002g0077others(22): Show | 25 | HG01243.hp2 HG01891.hp1 HG02109.hp1 others(22): Show |
intron_variant | MODIFIER | c.274-5174C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117525725 | ||||||
| chr7:117525784
|
GTGAGATG others(7): Show |
G | 2 | a0001c0004t0001g0017a0001c0004t0002g0016 | 2 | HG02109.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.274-5111_274-5098d others(16): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117525784 | |||||
| chr7:117525898
|
G | C | 2 | a0001c0001t0002g0195a0001c0005t0003g0194 | 2 | HG02145.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.274-5001G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117525898 | ||||||
| chr7:117525920
|
T | C | 1 | a0001c0001t0001g0053 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.274-4979T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117525920 | ||||||
| chr7:117525959
|
T | C | 52 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(49): Show | 52 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(49): Show |
intron_variant | MODIFIER | c.274-4940T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117525959 | ||||||
| chr7:117526011
|
T | C | 136 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(133): Show | 137 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(134): Show |
intron_variant | MODIFIER | c.274-4888T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117526011 | ||||||
| chr7:117526131
|
T | C | 1 | a0001c0001t0005g0066 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.274-4768T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117526131 | ||||||
| chr7:117526138
|
A | G | 1 | a0002c0002t0001g0084 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.274-4761A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117526138 | ||||||
| chr7:117526199
|
T | C | 1 | a0001c0003t0003g0155 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.274-4700T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117526199 | ||||||
| chr7:117526340
|
A | G | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.274-4559A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117526340 | ||||||
| chr7:117526350
|
T | C | 76 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(73): Show | 76 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(73): Show |
intron_variant | MODIFIER | c.274-4549T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117526350 | ||||||
| chr7:117526562
|
A | G | 52 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(49): Show | 52 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(49): Show |
intron_variant | MODIFIER | c.274-4337A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117526562 | ||||||
| chr7:117526632
|
A | G | 1 | a0001c0004t0002g0008 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.274-4267A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117526632 | ||||||
| chr7:117526735
|
C | T | 21 | a0001c0003t0003g0001a0001c0003t0003g0113a0001c0003t0003g0114others(18): Show | 22 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(19): Show |
intron_variant | MODIFIER | c.274-4164C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117526735 | ||||||
| chr7:117526741
|
G | A | 1 | a0001c0001t0002g0063 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.274-4158G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117526741 | ||||||
| chr7:117526903
|
G | T | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.274-3996G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117526903 | ||||||
| chr7:117527042
|
C | T | 10 | a0001c0001t0002g0075a0001c0001t0002g0076a0001c0001t0002g0077others(7): Show | 10 | HG01891.hp1 HG02109.hp2 HG02258.hp2 others(7): Show |
intron_variant | MODIFIER | c.274-3857C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117527042 | ||||||
| chr7:117527077
|
C | T | 52 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(49): Show | 52 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(49): Show |
intron_variant | MODIFIER | c.274-3822C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117527077 | ||||||
| chr7:117527478
|
G | A | 53 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(50): Show | 53 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(50): Show |
intron_variant | MODIFIER | c.274-3421G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117527478 | ||||||
| chr7:117527497
|
T | C | 1 | a0001c0001t0004g0009 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.274-3402T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117527497 | ||||||
| chr7:117527585
|
C | T | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.274-3314C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117527585 | ||||||
| chr7:117527860
|
A | G | 5 | a0001c0001t0002g0075a0001c0001t0002g0076a0001c0001t0002g0077others(2): Show | 5 | HG01891.hp1 HG02258.hp2 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.274-3039A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117527860 | ||||||
| chr7:117527996
|
T | C | 72 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(69): Show | 72 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(69): Show |
intron_variant | MODIFIER | c.274-2903T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117527996 | ||||||
| chr7:117528151
|
T | G | 2 | a0001c0005t0003g0196a0001c0005t0003g0197 | 2 | HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.274-2748T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117528151 | ||||||
| chr7:117528289
|
T | A | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.274-2610T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117528289 | ||||||
| chr7:117528402
|
C | G | 1 | a0001c0001t0002g0057 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.274-2497C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117528402 | ||||||
| chr7:117528429
|
T | C | 72 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(69): Show | 72 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(69): Show |
intron_variant | MODIFIER | c.274-2470T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117528429 | ||||||
| chr7:117528599
|
T | G | 1 | a0002c0002t0001g0099 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.274-2300T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117528599 | ||||||
| chr7:117528679
|
A | G | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.274-2220A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117528679 | ||||||
| chr7:117528687
|
C | T | 2 | a0001c0001t0004g0135a0001c0001t0004g0138 | 2 | HG02922.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.274-2212C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117528687 | ||||||
| chr7:117528702
|
G | A | 72 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(69): Show | 72 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(69): Show |
intron_variant | MODIFIER | c.274-2197G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117528702 | ||||||
| chr7:117528839
|
T | C | 1 | a0001c0001t0005g0025 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.274-2060T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117528839 | ||||||
| chr7:117529097
|
G | C | 76 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(73): Show | 76 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(73): Show |
intron_variant | MODIFIER | c.274-1802G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117529097 | ||||||
| chr7:117529140
|
G | A | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.274-1759G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117529140 | ||||||
| chr7:117529217
|
A | G | 136 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(133): Show | 137 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(134): Show |
intron_variant | MODIFIER | c.274-1682A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117529217 | ||||||
| chr7:117529260
|
G | A | 2 | a0001c0001t0002g0003a0001c0001t0002g0004 | 2 | HG01433.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.274-1639G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117529260 | ||||||
| chr7:117529472
|
T | A | 1 | a0001c0006t0003g0198 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.274-1427T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117529472 | ||||||
| chr7:117529513
|
T | TA | 41 | a0001c0001t0001g0053a0001c0001t0001g0056a0001c0001t0002g0020others(38): Show | 41 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(38): Show |
intron_variant | MODIFIER | c.274-1367dupA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117529513 | |||||
| chr7:117529513
|
TA | T | 41 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0004g0009others(38): Show | 42 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(39): Show |
intron_variant | MODIFIER | c.274-1367delA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117529513 | |||||
| chr7:117529513
|
TAA | T | 29 | a0001c0001t0002g0075a0001c0001t0002g0076a0001c0001t0002g0077others(26): Show | 29 | HG01074.hp2 HG01243.hp2 HG01891.hp1 others(26): Show |
intron_variant | MODIFIER | c.274-1368_274-1367d others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117529513 | |||||
| chr7:117529513
|
TAAA | T | 7 | a0001c0001t0002g0120a0001c0001t0002g0123a0001c0001t0002g0179others(4): Show | 7 | HG02109.hp1 HG02109.hp2 HG02451.hp2 others(4): Show |
intron_variant | MODIFIER | c.274-1369_274-1367d others(5): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | 117529513 | |||||
| chr7:117529515
|
A | C | 1 | a0001c0003t0003g0141 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.274-1384A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117529515 | ||||||
| chr7:117529547
|
T | A | 71 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(68): Show | 71 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(68): Show |
intron_variant | MODIFIER | c.274-1352T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117529547 | ||||||
| chr7:117529813
|
G | A | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.274-1086G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117529813 | ||||||
| chr7:117529911
|
C | T | 1 | a0001c0001t0004g0182 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.274-988C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117529911 | ||||||
| chr7:117530143
|
C | T | 2 | a0001c0001t0004g0135a0001c0001t0004g0138 | 2 | HG02922.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.274-756C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117530143 | ||||||
| chr7:117530383
|
A | G | 33 | a0001c0001t0002g0075a0001c0001t0002g0076a0001c0001t0002g0077others(30): Show | 33 | HG01243.hp2 HG01433.hp1 HG01891.hp1 others(30): Show |
intron_variant | MODIFIER | c.274-516A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117530383 | ||||||
| chr7:117530720
|
G | A | 76 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(73): Show | 76 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(73): Show |
intron_variant | MODIFIER | c.274-179G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | chr7 | 117530720 | ||||||
| chr7:117531205
|
A | G | 4 | a0001c0001t0001g0056a0001c0001t0002g0034a0011c0016t0002g0201others(1): Show | 4 | HG00099.hp1 HG00140.hp1 HG01993.hp1 others(1): Show |
intron_variant | MODIFIER | c.489+91A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/26 | chr7 | 117531205 | ||||||
| chr7:117531700
|
T | C | 71 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(68): Show | 71 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(68): Show |
intron_variant | MODIFIER | c.489+586T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/26 | chr7 | 117531700 | ||||||
| chr7:117531730
|
T | A | 1 | a0001c0003t0003g0001 | 2 | HG01257.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.489+616T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/26 | chr7 | 117531730 | ||||||
| chr7:117531754
|
A | G | 2 | a0001c0001t0002g0117a0001c0001t0004g0118 | 2 | HG02723.hp2 HG02886.hp1 |
intron_variant | MODIFIER | c.489+640A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/26 | chr7 | 117531754 | ||||||
| chr7:117531798
|
T | A | 2 | a0001c0005t0003g0149a0001c0005t0003g0150 | 2 | HG02886.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.489+684T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/26 | chr7 | 117531798 | ||||||
| chr7:117532011
|
A | G | 2 | a0001c0004t0001g0006a0001c0004t0001g0007 | 2 | HG01071.hp2 HG01074.hp2 |
intron_variant | MODIFIER | c.489+897A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/26 | chr7 | 117532011 | ||||||
| chr7:117532167
|
G | A | 1 | a0001c0003t0003g0183 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.489+1053G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/26 | chr7 | 117532167 | ||||||
| chr7:117532203
|
G | A | 76 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(73): Show | 76 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(73): Show |
intron_variant | MODIFIER | c.489+1089G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/26 | chr7 | 117532203 | ||||||
| chr7:117532215
|
T | A | 136 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(133): Show | 137 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(134): Show |
intron_variant | MODIFIER | c.489+1101T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/26 | chr7 | 117532215 | ||||||
| chr7:117532677
|
A | G | 60 | a0001c0001t0002g0075a0001c0001t0002g0076a0001c0001t0002g0077others(57): Show | 61 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(58): Show |
intron_variant | MODIFIER | c.489+1563A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/26 | chr7 | 117532677 | ||||||
| chr7:117532729
|
C | T | 76 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(73): Show | 76 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(73): Show |
intron_variant | MODIFIER | c.490-1547C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/26 | chr7 | 117532729 | ||||||
| chr7:117532824
|
A | T | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.490-1452A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/26 | chr7 | 117532824 | ||||||
| chr7:117533002
|
C | T | 2 | a0001c0003t0003g0144a0001c0003t0003g0145 | 2 | HG00642.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.490-1274C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/26 | chr7 | 117533002 | ||||||
| chr7:117533060
|
T | C | 52 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(49): Show | 52 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(49): Show |
intron_variant | MODIFIER | c.490-1216T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/26 | chr7 | 117533060 | ||||||
| chr7:117533176
|
T | C | 136 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(133): Show | 137 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(134): Show |
intron_variant | MODIFIER | c.490-1100T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/26 | chr7 | 117533176 | ||||||
| chr7:117533401
|
T | G | 72 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(69): Show | 72 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(69): Show |
intron_variant | MODIFIER | c.490-875T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/26 | chr7 | 117533401 | ||||||
| chr7:117533503
|
G | A | 2 | a0001c0004t0001g0017a0001c0004t0002g0016 | 2 | HG02109.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.490-773G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/26 | chr7 | 117533503 | ||||||
| chr7:117533794
|
G | A | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.490-482G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/26 | chr7 | 117533794 | ||||||
| chr7:117533818
|
G | C | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.490-458G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/26 | chr7 | 117533818 | ||||||
| chr7:117533846
|
AC | A | 2 | a0001c0001t0002g0003a0001c0001t0002g0004 | 2 | HG01433.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.490-429delC | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/26 | chr7 | 117533846 | ||||||
| chr7:117534013
|
T | C | 8 | a0001c0004t0002g0124a0001c0004t0002g0125a0001c0004t0002g0128others(5): Show | 8 | HG01433.hp1 HG02647.hp1 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.490-263T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/26 | chr7 | 117534013 | ||||||
| chr7:117534111
|
T | C | 1 | a0007c0024t0003g0148 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.490-165T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 4/26 | chr7 | 117534111 | ||||||
| chr7:117534478
|
C | T | 2 | a0001c0001t0004g0018a0001c0001t0004g0127 | 2 | HG03130.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.579+113C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 5/26 | chr7 | 117534478 | ||||||
| chr7:117534750
|
T | A | 72 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(69): Show | 72 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(69): Show |
intron_variant | MODIFIER | c.579+385T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 5/26 | chr7 | 117534750 | ||||||
| chr7:117535046
|
G | C | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.580-202G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 5/26 | chr7 | 117535046 | ||||||
| chr7:117535089
|
G | A | 19 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0151others(16): Show | 19 | HG01071.hp2 HG01074.hp2 HG01433.hp2 others(16): Show |
intron_variant | MODIFIER | c.580-159G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 5/26 | chr7 | 117535089 | ||||||
| chr7:117535451
|
A | G | 2 | a0001c0003t0003g0144a0001c0003t0003g0145 | 2 | HG00642.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.743+40A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 6/26 | chr7 | 117535451 | ||||||
| chr7:117535525
|
A | AT | 31 | a0001c0001t0001g0039a0001c0001t0002g0055a0001c0001t0002g0065others(28): Show | 32 | HG01070.hp1 HG01071.hp1 HG01074.hp1 others(29): Show |
intron_variant | MODIFIER | c.743+136dupT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr7 | 117535525 | |||||
| chr7:117535525
|
A | ATTTT | 20 | a0001c0001t0002g0077a0001c0001t0002g0078a0001c0001t0002g0117others(17): Show | 20 | HG01243.hp2 HG01433.hp1 HG01891.hp1 others(17): Show |
intron_variant | MODIFIER | c.743+133_743+136dup others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr7 | 117535525 | |||||
| chr7:117535525
|
AT | A | 8 | a0001c0001t0004g0009a0001c0001t0005g0019a0002c0002t0001g0073others(5): Show | 8 | HG02080.hp1 HG02165.hp1 NA18906.hp1 others(5): Show |
intron_variant | MODIFIER | c.743+136delT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr7 | 117535525 | |||||
| chr7:117535556
|
G | A | 3 | a0001c0006t0003g0142a0001c0006t0003g0193a0001c0019t0003g0192 | 3 | HG02258.hp1 HG02280.hp2 HG02559.hp1 |
intron_variant | MODIFIER | c.743+145G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 6/26 | chr7 | 117535556 | ||||||
| chr7:117535737
|
T | A | 21 | a0001c0003t0003g0001a0001c0003t0003g0113a0001c0003t0003g0114others(18): Show | 22 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(19): Show |
intron_variant | MODIFIER | c.743+326T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 6/26 | chr7 | 117535737 | ||||||
| chr7:117536045
|
A | C | 1 | a0001c0001t0001g0039 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.744-503A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 6/26 | chr7 | 117536045 | ||||||
| chr7:117536052
|
A | G | 72 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(69): Show | 72 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(69): Show |
intron_variant | MODIFIER | c.744-496A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 6/26 | chr7 | 117536052 | ||||||
| chr7:117536194
|
A | G | 72 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(69): Show | 72 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(69): Show |
intron_variant | MODIFIER | c.744-354A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 6/26 | chr7 | 117536194 | ||||||
| chr7:117536514
|
AGATT | A | 72 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(69): Show | 72 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(69): Show |
splice_region_variant&intron_variant | LOW | c.744-9_744-6delGATT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr7 | 117536514 | |||||
| chr7:117536684
|
C | T | 13 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0004g0009others(10): Show | 13 | HG01071.hp2 HG01074.hp2 HG01433.hp2 others(10): Show |
intron_variant | MODIFIER | c.869+11C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 7/26 | chr7 | 117536684 | ||||||
| chr7:117536761
|
T | A | 1 | a0002c0002t0001g0092 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.869+88T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 7/26 | chr7 | 117536761 | ||||||
| chr7:117536906
|
C | A | 5 | a0001c0001t0002g0151a0001c0005t0003g0149a0001c0005t0003g0150others(2): Show | 5 | HG02818.hp2 HG02886.hp2 HG03017.hp2 others(2): Show |
intron_variant | MODIFIER | c.869+233C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 7/26 | chr7 | 117536906 | ||||||
| chr7:117536959
|
G | A | 2 | a0001c0001t0002g0004a0002c0023t0006g0173 | 2 | HG01346.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.869+286G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 7/26 | chr7 | 117536959 | ||||||
| chr7:117537399
|
A | AT | 71 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(68): Show | 71 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(68): Show |
intron_variant | MODIFIER | c.869+731dupT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr7 | 117537399 | |||||
| chr7:117537652
|
C | T | 1 | a0002c0002t0001g0163 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.869+979C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 7/26 | chr7 | 117537652 | ||||||
| chr7:117537885
|
A | G | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.869+1212A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 7/26 | chr7 | 117537885 | ||||||
| chr7:117538107
|
T | C | 1 | a0001c0001t0005g0059 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.869+1434T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 7/26 | chr7 | 117538107 | ||||||
| chr7:117538154
|
A | G | 136 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(133): Show | 137 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(134): Show |
intron_variant | MODIFIER | c.869+1481A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 7/26 | chr7 | 117538154 | ||||||
| chr7:117538274
|
T | C | 1 | a0002c0002t0002g0146 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.869+1601T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 7/26 | chr7 | 117538274 | ||||||
| chr7:117538291
|
G | T | 1 | a0001c0003t0003g0021 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.869+1618G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 7/26 | chr7 | 117538291 | ||||||
| chr7:117538313
|
T | C | 1 | a0002c0002t0001g0085 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.869+1640T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 7/26 | chr7 | 117538313 | ||||||
| chr7:117538515
|
A | G | 1 | a0001c0001t0001g0039 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.870-1585A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 7/26 | chr7 | 117538515 | ||||||
| chr7:117538700
|
A | G | 12 | a0001c0003t0003g0116a0001c0003t0003g0134a0001c0003t0003g0155others(9): Show | 12 | HG00323.hp1 HG01070.hp1 HG01071.hp1 others(9): Show |
intron_variant | MODIFIER | c.870-1400A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 7/26 | chr7 | 117538700 | ||||||
| chr7:117538753
|
TA | T | 139 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(136): Show | 140 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(137): Show |
intron_variant | MODIFIER | c.870-1345delA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr7 | 117538753 | |||||
| chr7:117538875
|
G | A | 2 | a0001c0008t0003g0139a0001c0008t0010g0133 | 2 | HG01175.hp1 HG01943.hp2 |
intron_variant | MODIFIER | c.870-1225G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 7/26 | chr7 | 117538875 | ||||||
| chr7:117539005
|
A | C | 1 | a0002c0002t0001g0084 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.870-1095A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 7/26 | chr7 | 117539005 | ||||||
| chr7:117539127
|
A | G | 1 | a0001c0017t0001g0064 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.870-973A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 7/26 | chr7 | 117539127 | ||||||
| chr7:117539335
|
T | C | 1 | a0013c0013t0003g0136 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.870-765T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 7/26 | chr7 | 117539335 | ||||||
| chr7:117539421
|
G | GT | 7 | a0001c0001t0002g0117a0001c0001t0002g0151a0001c0004t0003g0191others(4): Show | 7 | HG01496.hp1 HG02818.hp2 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.870-668dupT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr7 | 117539421 | |||||
| chr7:117539455
|
A | G | 1 | a0002c0002t0001g0041 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.870-645A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 7/26 | chr7 | 117539455 | ||||||
| chr7:117539932
|
A | G | 5 | a0001c0001t0004g0072a0001c0001t0004g0126a0001c0001t0004g0135others(2): Show | 5 | HG02647.hp2 HG02922.hp1 HG03225.hp1 others(2): Show |
intron_variant | MODIFIER | c.870-168A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 7/26 | chr7 | 117539932 | ||||||
| chr7:117540589
|
C | G | 1 | a0001c0005t0003g0150 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1116+243C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 8/26 | chr7 | 117540589 | ||||||
| chr7:117540822
|
C | T | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1116+476C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 8/26 | chr7 | 117540822 | ||||||
| chr7:117540938
|
C | T | 24 | a0001c0001t0002g0075a0001c0001t0002g0076a0001c0001t0002g0077others(21): Show | 24 | HG01243.hp2 HG01891.hp1 HG02109.hp1 others(21): Show |
intron_variant | MODIFIER | c.1116+592C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 8/26 | chr7 | 117540938 | ||||||
| chr7:117540958
|
C | T | 19 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0151others(16): Show | 19 | HG01071.hp2 HG01074.hp2 HG01433.hp2 others(16): Show |
intron_variant | MODIFIER | c.1116+612C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 8/26 | chr7 | 117540958 | ||||||
| chr7:117541098
|
A | G | 52 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(49): Show | 52 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(49): Show |
intron_variant | MODIFIER | c.1116+752A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 8/26 | chr7 | 117541098 | ||||||
| chr7:117541262
|
A | G | 2 | a0001c0003t0003g0021a0001c0003t0003g0040 | 2 | HG02040.hp2 NA18966.hp2 |
intron_variant | MODIFIER | c.1117-754A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 8/26 | chr7 | 117541262 | ||||||
| chr7:117541269
|
A | C | 2 | a0001c0006t0006g0013a0001c0006t0006g0014 | 2 | HG02970.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1117-747A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 8/26 | chr7 | 117541269 | ||||||
| chr7:117541292
|
G | A | 5 | a0001c0001t0002g0151a0001c0005t0003g0149a0001c0005t0003g0150others(2): Show | 5 | HG02818.hp2 HG02886.hp2 HG03017.hp2 others(2): Show |
intron_variant | MODIFIER | c.1117-724G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 8/26 | chr7 | 117541292 | ||||||
| chr7:117541455
|
G | A | 52 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(49): Show | 52 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(49): Show |
intron_variant | MODIFIER | c.1117-561G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 8/26 | chr7 | 117541455 | ||||||
| chr7:117541650
|
AT | A | 136 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(133): Show | 137 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(134): Show |
intron_variant | MODIFIER | c.1117-358delT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 8/26 | INFO_REALIGN_3_PRIME | chr7 | 117541650 | |||||
| chr7:117542169
|
T | C | 2 | a0002c0002t0001g0188a0002c0002t0001g0189 | 2 | NA19065.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.1209+61T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117542169 | ||||||
| chr7:117542533
|
C | T | 2 | a0002c0002t0001g0108a0002c0002t0001g0171 | 2 | HG03239.hp2 HG03688.hp1 |
intron_variant | MODIFIER | c.1209+425C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117542533 | ||||||
| chr7:117542692
|
G | T | 1 | a0001c0001t0002g0032 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1209+584G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117542692 | ||||||
| chr7:117542897
|
C | T | 1 | a0002c0002t0001g0080 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.1209+789C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117542897 | ||||||
| chr7:117543084
|
G | T | 6 | a0001c0001t0005g0025a0001c0001t0005g0047a0001c0001t0005g0059others(3): Show | 6 | HG00642.hp1 HG02132.hp1 NA18992.hp2 others(3): Show |
intron_variant | MODIFIER | c.1209+976G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117543084 | ||||||
| chr7:117543269
|
G | A | 1 | a0002c0002t0001g0081 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.1209+1161G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117543269 | ||||||
| chr7:117543340
|
T | C | 1 | a0001c0003t0003g0178 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1209+1232T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117543340 | ||||||
| chr7:117543359
|
C | T | 2 | a0005c0009t0001g0153a0005c0009t0001g0154 | 2 | HG02486.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.1209+1251C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117543359 | ||||||
| chr7:117544243
|
G | A | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.1209+2135G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117544243 | ||||||
| chr7:117544413
|
C | T | 5 | a0001c0001t0002g0043a0001c0001t0002g0044a0001c0001t0002g0045others(2): Show | 5 | HG02027.hp2 NA18968.hp1 NA18982.hp1 others(2): Show |
intron_variant | MODIFIER | c.1209+2305C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117544413 | ||||||
| chr7:117544462
|
G | A | 136 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(133): Show | 137 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(134): Show |
intron_variant | MODIFIER | c.1209+2354G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117544462 | ||||||
| chr7:117544480
|
C | T | 1 | a0002c0002t0001g0102 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.1209+2372C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117544480 | ||||||
| chr7:117544721
|
C | T | 10 | a0001c0004t0002g0124a0001c0004t0002g0125a0001c0004t0002g0128others(7): Show | 10 | HG01074.hp1 HG01192.hp2 HG01433.hp1 others(7): Show |
intron_variant | MODIFIER | c.1209+2613C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117544721 | ||||||
| chr7:117544854
|
T | G | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.1209+2746T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117544854 | ||||||
| chr7:117544861
|
C | T | 1 | a0001c0001t0002g0117 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1209+2753C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117544861 | ||||||
| chr7:117544877
|
C | T | 1 | a0001c0001t0002g0024 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.1209+2769C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117544877 | ||||||
| chr7:117544901
|
G | A | 3 | a0001c0006t0003g0142a0001c0006t0003g0193a0001c0019t0003g0192 | 3 | HG02258.hp1 HG02280.hp2 HG02559.hp1 |
intron_variant | MODIFIER | c.1209+2793G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117544901 | ||||||
| chr7:117545017
|
T | C | 136 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(133): Show | 137 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(134): Show |
intron_variant | MODIFIER | c.1209+2909T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117545017 | ||||||
| chr7:117545273
|
A | C | 1 | a0001c0001t0002g0117 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1209+3165A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117545273 | ||||||
| chr7:117545442
|
G | A | 1 | a0002c0002t0001g0099 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.1210-3199G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117545442 | ||||||
| chr7:117545651
|
A | G | 1 | a0002c0002t0001g0105 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.1210-2990A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117545651 | ||||||
| chr7:117545798
|
A | AT | 6 | a0001c0001t0002g0151a0001c0004t0003g0191a0001c0005t0003g0149others(3): Show | 6 | HG01496.hp1 HG02818.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.1210-2832dupT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr7 | 117545798 | |||||
| chr7:117545798
|
AT | A | 6 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0068others(3): Show | 6 | HG00609.hp2 HG02056.hp2 HG04204.hp1 others(3): Show |
intron_variant | MODIFIER | c.1210-2832delT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr7 | 117545798 | |||||
| chr7:117545823
|
A | AT | 10 | a0001c0004t0003g0191a0002c0002t0001g0095a0002c0002t0001g0096others(7): Show | 10 | HG01496.hp1 HG02129.hp1 HG02132.hp2 others(7): Show |
intron_variant | MODIFIER | c.1210-2809dupT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr7 | 117545823 | |||||
| chr7:117545825
|
T | G | 7 | a0001c0004t0002g0124a0001c0004t0002g0125a0001c0004t0002g0128others(4): Show | 7 | HG01433.hp1 HG02647.hp1 HG02896.hp1 others(4): Show |
intron_variant | MODIFIER | c.1210-2816T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117545825 | ||||||
| chr7:117545984
|
A | AATTTT | 73 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(70): Show | 73 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(70): Show |
intron_variant | MODIFIER | c.1210-2636_1210-263 others(9): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr7 | 117545984 | |||||
| chr7:117545984
|
A | AATTTTAT others(3): Show |
1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1210-2641_1210-263 others(14): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr7 | 117545984 | |||||
| chr7:117546086
|
C | T | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.1210-2555C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117546086 | ||||||
| chr7:117546118
|
T | C | 1 | a0001c0005t0003g0194 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.1210-2523T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117546118 | ||||||
| chr7:117546398
|
G | C | 1 | a0001c0001t0004g0009 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1210-2243G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117546398 | ||||||
| chr7:117546641
|
G | A | 52 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(49): Show | 52 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(49): Show |
intron_variant | MODIFIER | c.1210-2000G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117546641 | ||||||
| chr7:117546957
|
G | A | 13 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0004g0009others(10): Show | 13 | HG01071.hp2 HG01074.hp2 HG01433.hp2 others(10): Show |
intron_variant | MODIFIER | c.1210-1684G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117546957 | ||||||
| chr7:117547407
|
T | C | 74 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(71): Show | 74 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(71): Show |
intron_variant | MODIFIER | c.1210-1234T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117547407 | ||||||
| chr7:117547446
|
G | A | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.1210-1195G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117547446 | ||||||
| chr7:117547605
|
T | C | 74 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(71): Show | 74 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(71): Show |
intron_variant | MODIFIER | c.1210-1036T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117547605 | ||||||
| chr7:117547768
|
G | A | 78 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(75): Show | 78 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(75): Show |
intron_variant | MODIFIER | c.1210-873G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117547768 | ||||||
| chr7:117548111
|
T | G | 4 | a0001c0001t0002g0023a0001c0001t0002g0065a0008c0014t0002g0027others(1): Show | 4 | HG02523.hp1 NA18960.hp1 NA18978.hp1 others(1): Show |
intron_variant | MODIFIER | c.1210-530T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117548111 | ||||||
| chr7:117548333
|
G | GGT | 58 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(55): Show | 58 | HG00140.hp1 HG00323.hp2 HG00609.hp2 others(55): Show |
intron_variant | MODIFIER | c.1210-277_1210-276d others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr7 | 117548333 | |||||
| chr7:117548333
|
G | GGTGTGTG others(3): Show |
4 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0006t0003g0193others(1): Show | 4 | HG01433.hp2 HG02258.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.1210-285_1210-276d others(12): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr7 | 117548333 | |||||
| chr7:117548333
|
G | GGTGTGTG others(5): Show |
2 | a0001c0005t0003g0156a0007c0024t0003g0148 | 2 | HG02818.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.1210-287_1210-276d others(14): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr7 | 117548333 | |||||
| chr7:117548333
|
G | GGTGTGTG others(7): Show |
9 | a0001c0001t0002g0151a0001c0001t0004g0009a0001c0004t0001g0006others(6): Show | 9 | HG01071.hp2 HG01074.hp2 HG01516.hp2 others(6): Show |
intron_variant | MODIFIER | c.1210-289_1210-276d others(16): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr7 | 117548333 | |||||
| chr7:117548333
|
G | GGTGTGTG others(9): Show |
2 | a0001c0004t0001g0012a0001c0006t0006g0005 | 2 | NA19030.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.1210-291_1210-276d others(18): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr7 | 117548333 | |||||
| chr7:117548333
|
G | GGTGTGTG others(11): Show |
2 | a0001c0006t0006g0013a0001c0006t0006g0014 | 2 | HG02970.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1210-293_1210-276d others(20): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr7 | 117548333 | |||||
| chr7:117548606
|
A | ATG | 60 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(57): Show | 60 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(57): Show |
intron_variant | MODIFIER | c.1210-13_1210-12dup others(2): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr7 | 117548606 | |||||
| chr7:117548606
|
A | ATGTG | 2 | a0001c0003t0003g0021a0001c0003t0003g0040 | 2 | HG02040.hp2 NA18966.hp2 |
intron_variant | MODIFIER | c.1210-15_1210-12dup others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr7 | 117548606 | |||||
| chr7:117548606
|
ATG | A | 46 | a0001c0001t0002g0075a0001c0001t0002g0076a0001c0001t0002g0077others(43): Show | 47 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(44): Show |
intron_variant | MODIFIER | c.1210-13_1210-12del others(2): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr7 | 117548606 | |||||
| chr7:117548628
|
G | GTT | 6 | a0001c0001t0002g0151a0001c0004t0003g0191a0001c0005t0003g0149others(3): Show | 6 | HG01496.hp1 HG02818.hp2 HG02886.hp2 others(3): Show |
splice_region_variant&intron_variant | LOW | c.1210-7_1210-6dupTT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr7 | 117548628 | |||||
| chr7:117548628
|
G | T | 23 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0004g0009others(20): Show | 23 | HG01071.hp2 HG01074.hp2 HG01433.hp1 others(20): Show |
intron_variant | MODIFIER | c.1210-13G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117548628 | ||||||
| chr7:117548630
|
T | G | 1 | a0001c0001t0009g0052 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.1210-11T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 9/26 | chr7 | 117548630 | ||||||
| chr7:117549200
|
G | T | 18 | a0001c0001t0002g0075a0001c0001t0002g0076a0001c0001t0002g0077others(15): Show | 18 | HG01243.hp2 HG01891.hp1 HG02109.hp2 others(15): Show |
intron_variant | MODIFIER | c.1392+377G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117549200 | ||||||
| chr7:117549218
|
G | A | 74 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(71): Show | 74 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(71): Show |
intron_variant | MODIFIER | c.1392+395G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117549218 | ||||||
| chr7:117549321
|
A | G | 1 | a0001c0001t0002g0067 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.1392+498A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117549321 | ||||||
| chr7:117549497
|
A | G | 2 | a0001c0003t0003g0180a0001c0003t0003g0181 | 2 | HG01070.hp1 HG01071.hp1 |
intron_variant | MODIFIER | c.1392+674A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117549497 | ||||||
| chr7:117549650
|
A | G | 1 | a0001c0003t0003g0001 | 2 | HG01257.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.1392+827A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117549650 | ||||||
| chr7:117550012
|
C | T | 58 | a0001c0001t0002g0075a0001c0001t0002g0076a0001c0001t0002g0077others(55): Show | 59 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(56): Show |
intron_variant | MODIFIER | c.1392+1189C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117550012 | ||||||
| chr7:117550143
|
G | A | 2 | a0001c0001t0004g0135a0001c0001t0004g0138 | 2 | HG02922.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.1392+1320G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117550143 | ||||||
| chr7:117550286
|
GAGCCATG others(1): Show |
G | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.1392+1464_1392+147 others(12): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117550286 | ||||||
| chr7:117550329
|
C | CA | 9 | a0001c0001t0002g0051a0001c0001t0004g0018a0001c0001t0004g0127others(6): Show | 9 | HG01496.hp1 HG02056.hp1 HG02080.hp1 others(6): Show |
intron_variant | MODIFIER | c.1392+1520dupA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr7 | 117550329 | |||||
| chr7:117550329
|
CA | C | 27 | a0001c0003t0003g0001a0001c0003t0003g0113a0001c0003t0003g0114others(24): Show | 28 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(25): Show |
intron_variant | MODIFIER | c.1392+1520delA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr7 | 117550329 | |||||
| chr7:117550544
|
T | C | 78 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(75): Show | 78 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(75): Show |
intron_variant | MODIFIER | c.1392+1721T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117550544 | ||||||
| chr7:117550649
|
C | T | 21 | a0001c0003t0003g0001a0001c0003t0003g0113a0001c0003t0003g0114others(18): Show | 22 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(19): Show |
intron_variant | MODIFIER | c.1392+1826C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117550649 | ||||||
| chr7:117550942
|
T | G | 74 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(71): Show | 74 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(71): Show |
intron_variant | MODIFIER | c.1392+2119T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117550942 | ||||||
| chr7:117551187
|
A | T | 1 | a0001c0005t0003g0194 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.1392+2364A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117551187 | ||||||
| chr7:117551229
|
G | A | 136 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(133): Show | 137 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(134): Show |
intron_variant | MODIFIER | c.1392+2406G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117551229 | ||||||
| chr7:117551313
|
A | G | 1 | a0001c0001t0005g0047 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.1392+2490A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117551313 | ||||||
| chr7:117551407
|
T | A | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.1392+2584T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117551407 | ||||||
| chr7:117551765
|
T | C | 74 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(71): Show | 74 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(71): Show |
intron_variant | MODIFIER | c.1392+2942T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117551765 | ||||||
| chr7:117551807
|
C | T | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.1392+2984C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117551807 | ||||||
| chr7:117551834
|
T | G | 1 | a0001c0004t0002g0137 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.1392+3011T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117551834 | ||||||
| chr7:117552085
|
CATAT | C | 2 | a0001c0001t0002g0195a0001c0005t0003g0194 | 2 | HG02145.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.1392+3269_1392+327 others(8): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr7 | 117552085 | |||||
| chr7:117552111
|
T | A | 1 | a0002c0002t0002g0147 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.1392+3288T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117552111 | ||||||
| chr7:117552278
|
G | C | 1 | a0001c0003t0003g0144 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.1392+3455G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117552278 | ||||||
| chr7:117552323
|
A | C | 1 | a0001c0004t0002g0008 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1392+3500A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117552323 | ||||||
| chr7:117552411
|
A | T | 1 | a0012c0022t0001g0091 | 1 | NA18993.hp1 | intron_variant | MODIFIER | c.1392+3588A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117552411 | ||||||
| chr7:117552554
|
A | G | 24 | a0001c0003t0003g0001a0001c0003t0003g0113a0001c0003t0003g0114others(21): Show | 25 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(22): Show |
intron_variant | MODIFIER | c.1392+3731A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117552554 | ||||||
| chr7:117552706
|
A | C | 67 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(64): Show | 67 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(64): Show |
intron_variant | MODIFIER | c.1392+3883A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117552706 | ||||||
| chr7:117552706
|
A | G | 1 | a0002c0020t0002g0079 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1392+3883A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117552706 | ||||||
| chr7:117552708
|
A | C | 1 | a0001c0005t0003g0194 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.1392+3885A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117552708 | ||||||
| chr7:117553224
|
G | GAC | 59 | a0001c0001t0002g0075a0001c0001t0002g0076a0001c0001t0002g0077others(56): Show | 60 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(57): Show |
intron_variant | MODIFIER | c.1392+4423_1392+442 others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr7 | 117553224 | |||||
| chr7:117553415
|
G | T | 1 | a0007c0024t0003g0148 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1392+4592G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117553415 | ||||||
| chr7:117553706
|
A | T | 1 | a0001c0001t0002g0036 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.1392+4883A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117553706 | ||||||
| chr7:117553882
|
A | G | 52 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(49): Show | 52 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(49): Show |
intron_variant | MODIFIER | c.1392+5059A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117553882 | ||||||
| chr7:117553939
|
C | A | 4 | a0001c0001t0002g0151a0001c0005t0003g0149a0001c0005t0003g0150others(1): Show | 4 | HG02818.hp2 HG02886.hp2 HG03017.hp2 others(1): Show |
intron_variant | MODIFIER | c.1392+5116C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117553939 | ||||||
| chr7:117554416
|
G | A | 25 | a0001c0003t0003g0001a0001c0003t0003g0113a0001c0003t0003g0114others(22): Show | 26 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(23): Show |
intron_variant | MODIFIER | c.1393-5048G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117554416 | ||||||
| chr7:117554478
|
T | C | 1 | a0001c0001t0001g0056 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.1393-4986T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117554478 | ||||||
| chr7:117554617
|
G | T | 2 | a0005c0009t0001g0153a0005c0009t0001g0154 | 2 | HG02486.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.1393-4847G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117554617 | ||||||
| chr7:117554672
|
A | G | 3 | a0001c0003t0003g0113a0001c0003t0003g0114a0001c0003t0003g0178 | 3 | HG02723.hp1 HG02818.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.1393-4792A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117554672 | ||||||
| chr7:117554717
|
T | C | 1 | a0001c0005t0003g0156 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1393-4747T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117554717 | ||||||
| chr7:117555177
|
G | A | 2 | a0001c0004t0001g0006a0001c0004t0001g0007 | 2 | HG01071.hp2 HG01074.hp2 |
intron_variant | MODIFIER | c.1393-4287G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117555177 | ||||||
| chr7:117555424
|
A | G | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.1393-4040A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117555424 | ||||||
| chr7:117555454
|
G | A | 1 | a0001c0001t0009g0052 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.1393-4010G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117555454 | ||||||
| chr7:117555492
|
A | G | 5 | a0001c0001t0002g0151a0001c0005t0003g0149a0001c0005t0003g0150others(2): Show | 5 | HG02818.hp2 HG02886.hp2 HG03017.hp2 others(2): Show |
intron_variant | MODIFIER | c.1393-3972A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117555492 | ||||||
| chr7:117555503
|
T | C | 13 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0004g0009others(10): Show | 13 | HG01071.hp2 HG01074.hp2 HG01433.hp2 others(10): Show |
intron_variant | MODIFIER | c.1393-3961T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117555503 | ||||||
| chr7:117555547
|
A | G | 1 | a0001c0001t0002g0063 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1393-3917A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117555547 | ||||||
| chr7:117555548
|
T | C | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.1393-3916T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117555548 | ||||||
| chr7:117555779
|
T | C | 1 | a0010c0018t0005g0028 | 1 | NA18992.hp2 | intron_variant | MODIFIER | c.1393-3685T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117555779 | ||||||
| chr7:117556139
|
A | C | 4 | a0003c0007t0001g0100a0003c0007t0001g0166a0003c0007t0001g0167others(1): Show | 4 | HG00609.hp1 NA18947.hp1 NA18992.hp1 others(1): Show |
intron_variant | MODIFIER | c.1393-3325A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117556139 | ||||||
| chr7:117556155
|
C | T | 3 | a0001c0004t0002g0137a0001c0004t0002g0140a0001c0004t0002g0186 | 3 | HG01074.hp1 HG01192.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1393-3309C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117556155 | ||||||
| chr7:117556212
|
G | A | 3 | a0002c0002t0001g0097a0002c0002t0001g0101a0002c0002t0001g0105 | 3 | HG02080.hp1 NA18982.hp2 NA19010.hp2 |
intron_variant | MODIFIER | c.1393-3252G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117556212 | ||||||
| chr7:117556314
|
C | T | 52 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(49): Show | 52 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(49): Show |
intron_variant | MODIFIER | c.1393-3150C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117556314 | ||||||
| chr7:117556470
|
C | T | 1 | a0007c0024t0003g0148 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1393-2994C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117556470 | ||||||
| chr7:117556471
|
G | T | 3 | a0001c0003t0003g0113a0001c0003t0003g0114a0001c0003t0003g0178 | 3 | HG02723.hp1 HG02818.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.1393-2993G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117556471 | ||||||
| chr7:117556492
|
A | C | 1 | a0001c0006t0003g0015 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.1393-2972A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117556492 | ||||||
| chr7:117556512
|
CT | C | 107 | a0001c0001t0001g0068a0001c0001t0002g0020a0001c0001t0002g0030others(104): Show | 107 | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(104): Show |
intron_variant | MODIFIER | c.1393-2927delT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr7 | 117556512 | |||||
| chr7:117556512
|
CTT | C | 68 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(65): Show | 68 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(65): Show |
intron_variant | MODIFIER | c.1393-2928_1393-292 others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr7 | 117556512 | |||||
| chr7:117556512
|
CTTTTTTT others(5): Show |
C | 1 | a0001c0001t0002g0035 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.1393-2938_1393-292 others(16): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr7 | 117556512 | |||||
| chr7:117556681
|
G | A | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.1393-2783G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117556681 | ||||||
| chr7:117556709
|
C | T | 3 | a0001c0003t0003g0180a0001c0003t0003g0181a0001c0003t0003g0185 | 3 | HG01070.hp1 HG01071.hp1 HG01346.hp2 |
intron_variant | MODIFIER | c.1393-2755C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117556709 | ||||||
| chr7:117556761
|
C | T | 8 | a0001c0001t0002g0151a0001c0004t0003g0191a0001c0005t0003g0149others(5): Show | 8 | HG01496.hp1 HG02258.hp1 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.1393-2703C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117556761 | ||||||
| chr7:117556975
|
A | C | 8 | a0001c0001t0002g0151a0001c0004t0003g0191a0001c0005t0003g0149others(5): Show | 8 | HG01496.hp1 HG02258.hp1 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.1393-2489A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117556975 | ||||||
| chr7:117556977
|
T | A | 21 | a0001c0003t0003g0001a0001c0003t0003g0113a0001c0003t0003g0114others(18): Show | 22 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(19): Show |
intron_variant | MODIFIER | c.1393-2487T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117556977 | ||||||
| chr7:117557254
|
G | A | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1393-2210G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117557254 | ||||||
| chr7:117557545
|
TTTGCTTC others(7): Show |
T | 74 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(71): Show | 74 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(71): Show |
intron_variant | MODIFIER | c.1393-1912_1393-189 others(18): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr7 | 117557545 | |||||
| chr7:117557597
|
C | T | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.1393-1867C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117557597 | ||||||
| chr7:117558244
|
G | C | 1 | a0001c0004t0002g0140 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1393-1220G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117558244 | ||||||
| chr7:117558360
|
C | T | 8 | a0001c0001t0002g0151a0001c0004t0003g0191a0001c0005t0003g0149others(5): Show | 8 | HG01496.hp1 HG02258.hp1 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.1393-1104C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117558360 | ||||||
| chr7:117558382
|
G | A | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.1393-1082G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117558382 | ||||||
| chr7:117558401
|
A | C | 3 | a0002c0002t0001g0174a0002c0002t0001g0175a0017c0011t0001g0112 | 3 | NA18954.hp2 NA19062.hp2 NA19090.hp1 |
intron_variant | MODIFIER | c.1393-1063A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117558401 | ||||||
| chr7:117558509
|
G | A | 1 | a0001c0006t0006g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1393-955G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117558509 | ||||||
| chr7:117558553
|
C | CTAAA | 57 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(54): Show | 57 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(54): Show |
intron_variant | MODIFIER | c.1393-878_1393-875d others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr7 | 117558553 | |||||
| chr7:117558553
|
C | CTAAATAA others(1): Show |
49 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0020others(46): Show | 49 | HG01071.hp2 HG01074.hp2 HG01243.hp2 others(46): Show |
intron_variant | MODIFIER | c.1393-882_1393-875d others(10): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr7 | 117558553 | |||||
| chr7:117558553
|
C | CTAAATAA others(5): Show |
4 | a0001c0001t0002g0076a0001c0001t0002g0199a0001c0003t0003g0141others(1): Show | 4 | HG02647.hp2 HG04199.hp2 NA20300.hp2 others(1): Show |
intron_variant | MODIFIER | c.1393-886_1393-875d others(14): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr7 | 117558553 | |||||
| chr7:117558553
|
C | CTAAATAA others(9): Show |
2 | a0001c0004t0001g0010a0001c0004t0001g0011 | 2 | HG01516.hp2 NA20805.hp2 |
intron_variant | MODIFIER | c.1393-890_1393-875d others(18): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr7 | 117558553 | |||||
| chr7:117559158
|
G | C | 1 | a0002c0002t0001g0163 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.1393-306G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117559158 | ||||||
| chr7:117559403
|
A | G | 78 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(75): Show | 78 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(75): Show |
intron_variant | MODIFIER | c.1393-61A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | chr7 | 117559403 | ||||||
| chr7:117559705
|
C | CTACCCAA others(4): Show |
1 | a0001c0004t0002g0140 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1584+53_1584+63dup others(11): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | 117559705 | |||||
| chr7:117559982
|
T | C | 1 | a0001c0003t0003g0021 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.1584+327T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117559982 | ||||||
| chr7:117560130
|
T | C | 5 | a0001c0001t0004g0072a0001c0001t0004g0126a0001c0001t0004g0135others(2): Show | 5 | HG02647.hp2 HG02922.hp1 HG03225.hp1 others(2): Show |
intron_variant | MODIFIER | c.1584+475T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117560130 | ||||||
| chr7:117560427
|
G | C | 78 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(75): Show | 78 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(75): Show |
intron_variant | MODIFIER | c.1584+772G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117560427 | ||||||
| chr7:117560456
|
G | T | 74 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(71): Show | 74 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(71): Show |
intron_variant | MODIFIER | c.1584+801G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117560456 | ||||||
| chr7:117560682
|
C | T | 5 | a0001c0001t0002g0075a0001c0001t0002g0076a0001c0001t0002g0077others(2): Show | 5 | HG01891.hp1 HG02258.hp2 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.1584+1027C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117560682 | ||||||
| chr7:117560845
|
C | T | 22 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0045others(19): Show | 22 | HG01071.hp2 HG01074.hp2 HG01433.hp2 others(19): Show |
intron_variant | MODIFIER | c.1584+1190C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117560845 | ||||||
| chr7:117560981
|
A | C | 1 | a0001c0004t0002g0016 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1584+1326A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117560981 | ||||||
| chr7:117561047
|
T | A | 1 | a0001c0001t0004g0182 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1584+1392T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117561047 | ||||||
| chr7:117561309
|
CT | C | 24 | a0001c0003t0003g0001a0001c0003t0003g0113a0001c0003t0003g0114others(21): Show | 25 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(22): Show |
intron_variant | MODIFIER | c.1584+1664delT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | 117561309 | |||||
| chr7:117561356
|
T | A | 1 | a0002c0021t0001g0165 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.1584+1701T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117561356 | ||||||
| chr7:117561582
|
G | A | 1 | a0001c0001t0002g0046 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.1584+1927G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117561582 | ||||||
| chr7:117561598
|
C | T | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1584+1943C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117561598 | ||||||
| chr7:117562018
|
A | G | 2 | a0001c0001t0004g0072a0001c0001t0004g0126 | 2 | HG03225.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.1584+2363A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117562018 | ||||||
| chr7:117562380
|
A | G | 31 | a0001c0003t0003g0001a0001c0003t0003g0113a0001c0003t0003g0114others(28): Show | 32 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(29): Show |
intron_variant | MODIFIER | c.1584+2725A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117562380 | ||||||
| chr7:117562404
|
G | T | 1 | a0001c0004t0001g0011 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.1584+2749G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117562404 | ||||||
| chr7:117562422
|
C | T | 1 | a0001c0006t0003g0015 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.1584+2767C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117562422 | ||||||
| chr7:117562430
|
C | G | 73 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(70): Show | 73 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(70): Show |
intron_variant | MODIFIER | c.1584+2775C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117562430 | ||||||
| chr7:117562763
|
A | G | 1 | a0002c0002t0001g0110 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.1584+3108A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117562763 | ||||||
| chr7:117562774
|
T | C | 1 | a0003c0007t0001g0168 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1584+3119T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117562774 | ||||||
| chr7:117563339
|
A | T | 5 | a0001c0001t0002g0043a0001c0001t0002g0044a0001c0001t0002g0045others(2): Show | 5 | HG02027.hp2 NA18968.hp1 NA18982.hp1 others(2): Show |
intron_variant | MODIFIER | c.1584+3684A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117563339 | ||||||
| chr7:117563363
|
A | G | 62 | a0001c0001t0002g0075a0001c0001t0002g0076a0001c0001t0002g0077others(59): Show | 63 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(60): Show |
intron_variant | MODIFIER | c.1584+3708A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117563363 | ||||||
| chr7:117563367
|
A | G | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.1584+3712A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117563367 | ||||||
| chr7:117563520
|
GA | G | 5 | a0001c0001t0002g0151a0001c0005t0003g0149a0001c0005t0003g0150others(2): Show | 5 | HG02818.hp2 HG02886.hp2 HG03017.hp2 others(2): Show |
intron_variant | MODIFIER | c.1584+3867delA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | 117563520 | |||||
| chr7:117564113
|
C | T | 1 | a0001c0004t0002g0140 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1584+4458C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117564113 | ||||||
| chr7:117564268
|
G | T | 3 | a0001c0001t0004g0018a0001c0001t0004g0127a0001c0001t0004g0182 | 3 | HG03130.hp2 HG03209.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.1584+4613G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117564268 | ||||||
| chr7:117564408
|
A | G | 33 | a0001c0001t0002g0075a0001c0001t0002g0076a0001c0001t0002g0077others(30): Show | 33 | HG01243.hp2 HG01433.hp1 HG01891.hp1 others(30): Show |
intron_variant | MODIFIER | c.1584+4753A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117564408 | ||||||
| chr7:117564659
|
T | G | 4 | a0001c0001t0002g0195a0001c0005t0003g0194a0001c0005t0003g0196others(1): Show | 4 | HG02145.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.1584+5004T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117564659 | ||||||
| chr7:117564752
|
G | T | 1 | a0002c0020t0002g0079 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1584+5097G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117564752 | ||||||
| chr7:117565140
|
C | G | 1 | a0001c0003t0003g0134 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.1584+5485C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117565140 | ||||||
| chr7:117565360
|
C | T | 1 | a0002c0002t0001g0105 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.1584+5705C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117565360 | ||||||
| chr7:117565762
|
A | G | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1584+6107A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117565762 | ||||||
| chr7:117566248
|
A | AAC | 19 | a0001c0001t0002g0121a0001c0004t0001g0143a0001c0004t0002g0124others(16): Show | 19 | HG01433.hp1 HG02080.hp1 HG02145.hp2 others(16): Show |
intron_variant | MODIFIER | c.1584+6630_1584+663 others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | 117566248 | |||||
| chr7:117566248
|
A | AACAC | 23 | a0001c0003t0003g0113a0001c0003t0003g0114a0001c0003t0003g0116others(20): Show | 23 | HG00323.hp1 HG01070.hp1 HG01071.hp1 others(20): Show |
intron_variant | MODIFIER | c.1584+6628_1584+663 others(8): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | 117566248 | |||||
| chr7:117566248
|
A | AACACAC | 12 | a0001c0001t0002g0003a0001c0001t0002g0195a0001c0004t0001g0010others(9): Show | 12 | HG01433.hp2 HG01496.hp1 HG01516.hp2 others(9): Show |
intron_variant | MODIFIER | c.1584+6626_1584+663 others(10): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | 117566248 | |||||
| chr7:117566248
|
A | AACACACA others(1): Show |
5 | a0001c0001t0002g0004a0001c0003t0003g0145a0001c0004t0001g0006others(2): Show | 5 | HG01071.hp2 HG01074.hp2 HG02280.hp1 others(2): Show |
intron_variant | MODIFIER | c.1584+6624_1584+663 others(12): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | 117566248 | |||||
| chr7:117566248
|
A | AACACACA others(3): Show |
5 | a0001c0001t0002g0151a0001c0004t0002g0008a0001c0005t0003g0149others(2): Show | 5 | HG02630.hp2 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.1584+6622_1584+663 others(14): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | 117566248 | |||||
| chr7:117566248
|
AAC | A | 54 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(51): Show | 54 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(51): Show |
intron_variant | MODIFIER | c.1584+6630_1584+663 others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | 117566248 | |||||
| chr7:117566248
|
AACACAC | A | 3 | a0001c0001t0002g0063a0001c0004t0002g0137a0001c0004t0002g0186 | 3 | HG01074.hp1 HG01192.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.1584+6626_1584+663 others(10): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | 117566248 | |||||
| chr7:117566599
|
T | TA | 30 | a0001c0001t0002g0075a0001c0001t0002g0076a0001c0001t0002g0077others(27): Show | 30 | HG01433.hp1 HG01891.hp1 HG02109.hp2 others(27): Show |
intron_variant | MODIFIER | c.1584+6959dupA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | 117566599 | |||||
| chr7:117566599
|
TA | T | 59 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(56): Show | 59 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(56): Show |
intron_variant | MODIFIER | c.1584+6959delA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | 117566599 | |||||
| chr7:117566617
|
A | G | 1 | a0001c0001t0002g0030 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.1584+6962A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117566617 | ||||||
| chr7:117566641
|
G | A | 2 | a0002c0002t0001g0086a0002c0002t0001g0160 | 2 | HG00140.hp2 HG02257.hp2 |
intron_variant | MODIFIER | c.1584+6986G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117566641 | ||||||
| chr7:117566829
|
A | G | 22 | a0001c0001t0002g0075a0001c0001t0002g0076a0001c0001t0002g0077others(19): Show | 22 | HG01243.hp2 HG01433.hp1 HG01891.hp1 others(19): Show |
intron_variant | MODIFIER | c.1584+7174A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117566829 | ||||||
| chr7:117566850
|
C | A | 3 | a0001c0006t0006g0005a0001c0006t0006g0013a0001c0006t0006g0014 | 3 | HG02970.hp2 NA19030.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1584+7195C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117566850 | ||||||
| chr7:117566875
|
A | G | 1 | a0001c0001t0002g0063 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1584+7220A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117566875 | ||||||
| chr7:117566887
|
T | G | 21 | a0001c0003t0003g0001a0001c0003t0003g0113a0001c0003t0003g0114others(18): Show | 22 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(19): Show |
intron_variant | MODIFIER | c.1584+7232T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117566887 | ||||||
| chr7:117567162
|
C | T | 1 | a0001c0001t0002g0062 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1584+7507C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117567162 | ||||||
| chr7:117567333
|
A | G | 2 | a0001c0004t0002g0131a0001c0004t0002g0132 | 2 | HG02647.hp1 HG02896.hp1 |
intron_variant | MODIFIER | c.1584+7678A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117567333 | ||||||
| chr7:117567706
|
C | T | 3 | a0001c0005t0003g0194a0001c0005t0003g0196a0001c0005t0003g0197 | 3 | HG02145.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.1584+8051C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117567706 | ||||||
| chr7:117567754
|
TC | T | 2 | a0001c0001t0004g0135a0001c0001t0004g0138 | 2 | HG02922.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.1584+8100delC | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117567754 | ||||||
| chr7:117567793
|
C | T | 1 | a0001c0001t0002g0179 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.1584+8138C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117567793 | ||||||
| chr7:117567806
|
C | A | 98 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(95): Show | 99 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(96): Show |
intron_variant | MODIFIER | c.1584+8151C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117567806 | ||||||
| chr7:117567851
|
A | G | 1 | a0001c0001t0002g0062 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1584+8196A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117567851 | ||||||
| chr7:117568022
|
A | T | 1 | a0002c0002t0001g0094 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.1584+8367A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117568022 | ||||||
| chr7:117568250
|
G | A | 1 | a0001c0001t0002g0058 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.1584+8595G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117568250 | ||||||
| chr7:117568282
|
G | A | 1 | a0001c0001t0002g0119 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1584+8627G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117568282 | ||||||
| chr7:117568340
|
C | T | 1 | a0001c0001t0004g0009 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1584+8685C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117568340 | ||||||
| chr7:117568499
|
T | A | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1584+8844T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117568499 | ||||||
| chr7:117568572
|
A | G | 7 | a0001c0001t0004g0009a0001c0001t0004g0018a0001c0001t0004g0072others(4): Show | 7 | HG02922.hp1 HG03130.hp2 HG03225.hp1 others(4): Show |
intron_variant | MODIFIER | c.1584+8917A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117568572 | ||||||
| chr7:117569645
|
G | GAGAAA | 3 | a0001c0001t0002g0020a0001c0001t0002g0022a0001c0001t0002g0024 | 3 | NA18988.hp1 NA19011.hp1 NA19062.hp1 |
intron_variant | MODIFIER | c.1584+9993_1584+999 others(9): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | 117569645 | |||||
| chr7:117570208
|
C | A | 1 | a0001c0003t0003g0021 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.1584+10553C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117570208 | ||||||
| chr7:117570281
|
G | A | 1 | a0001c0001t0001g0068 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.1584+10626G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117570281 | ||||||
| chr7:117570291
|
A | G | 2 | a0001c0004t0001g0006a0001c0004t0001g0007 | 2 | HG01071.hp2 HG01074.hp2 |
intron_variant | MODIFIER | c.1584+10636A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117570291 | ||||||
| chr7:117570314
|
C | T | 21 | a0001c0003t0003g0001a0001c0003t0003g0113a0001c0003t0003g0114others(18): Show | 22 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(19): Show |
intron_variant | MODIFIER | c.1584+10659C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117570314 | ||||||
| chr7:117570346
|
G | A | 4 | a0001c0001t0002g0151a0001c0005t0003g0149a0001c0005t0003g0150others(1): Show | 4 | HG02818.hp2 HG02886.hp2 HG03017.hp2 others(1): Show |
intron_variant | MODIFIER | c.1584+10691G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117570346 | ||||||
| chr7:117570762
|
A | G | 1 | a0001c0003t0003g0141 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1584+11107A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117570762 | ||||||
| chr7:117570999
|
C | A | 1 | a0001c0004t0002g0140 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1584+11344C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117570999 | ||||||
| chr7:117571000
|
A | G | 31 | a0001c0003t0003g0001a0001c0003t0003g0113a0001c0003t0003g0114others(28): Show | 32 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(29): Show |
intron_variant | MODIFIER | c.1584+11345A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117571000 | ||||||
| chr7:117571053
|
C | T | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1584+11398C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117571053 | ||||||
| chr7:117571512
|
C | T | 1 | a0001c0001t0004g0127 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.1584+11857C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117571512 | ||||||
| chr7:117571799
|
T | C | 105 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(102): Show | 106 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(103): Show |
intron_variant | MODIFIER | c.1584+12144T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117571799 | ||||||
| chr7:117571897
|
T | C | 4 | a0001c0001t0002g0151a0001c0005t0003g0149a0001c0005t0003g0150others(1): Show | 4 | HG02818.hp2 HG02886.hp2 HG03017.hp2 others(1): Show |
intron_variant | MODIFIER | c.1584+12242T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117571897 | ||||||
| chr7:117571958
|
G | T | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.1584+12303G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117571958 | ||||||
| chr7:117571986
|
C | CT | 98 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(95): Show | 99 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(96): Show |
intron_variant | MODIFIER | c.1584+12338dupT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | 117571986 | |||||
| chr7:117572634
|
C | T | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1584+12979C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117572634 | ||||||
| chr7:117572669
|
T | C | 138 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(135): Show | 139 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(136): Show |
intron_variant | MODIFIER | c.1584+13014T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117572669 | ||||||
| chr7:117573036
|
T | TTCTCTC | 61 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(58): Show | 61 | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(58): Show |
intron_variant | MODIFIER | c.1584+13397_1584+13 others(12): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | 117573036 | |||||
| chr7:117573036
|
T | TTCTCTCT others(1): Show |
9 | a0001c0001t0002g0046a0001c0001t0002g0151a0001c0001t0002g0195others(6): Show | 9 | HG00323.hp2 HG01496.hp1 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.1584+13395_1584+13 others(14): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | 117573036 | |||||
| chr7:117573047
|
TCTCTCTC others(5): Show |
T | 21 | a0001c0003t0003g0001a0001c0003t0003g0113a0001c0003t0003g0114others(18): Show | 22 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(19): Show |
intron_variant | MODIFIER | c.1584+13403_1584+13 others(18): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | 117573047 | |||||
| chr7:117573058
|
T | C | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.1584+13403T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117573058 | ||||||
| chr7:117573059
|
G | T | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.1584+13404G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117573059 | ||||||
| chr7:117573062
|
C | G | 1 | a0001c0001t0002g0117 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1584+13407C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117573062 | ||||||
| chr7:117573447
|
G | A | 1 | a0002c0020t0002g0079 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1584+13792G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117573447 | ||||||
| chr7:117573715
|
G | A | 6 | a0001c0003t0003g0113a0001c0003t0003g0114a0001c0003t0003g0141others(3): Show | 6 | HG02451.hp1 HG02647.hp2 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.1585-14024G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117573715 | ||||||
| chr7:117573990
|
G | C | 2 | a0001c0001t0002g0023a0008c0014t0002g0027 | 2 | NA18960.hp1 NA18990.hp2 |
intron_variant | MODIFIER | c.1585-13749G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117573990 | ||||||
| chr7:117574035
|
T | C | 71 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(68): Show | 71 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(68): Show |
intron_variant | MODIFIER | c.1585-13704T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117574035 | ||||||
| chr7:117574071
|
T | C | 93 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(90): Show | 94 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(91): Show |
intron_variant | MODIFIER | c.1585-13668T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117574071 | ||||||
| chr7:117574319
|
G | C | 51 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0075others(48): Show | 51 | HG01071.hp2 HG01074.hp1 HG01074.hp2 others(48): Show |
intron_variant | MODIFIER | c.1585-13420G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117574319 | ||||||
| chr7:117574397
|
A | G | 5 | a0001c0004t0002g0137a0001c0004t0002g0186a0001c0006t0003g0193others(2): Show | 5 | HG01074.hp1 HG01192.hp2 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.1585-13342A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117574397 | ||||||
| chr7:117574417
|
T | G | 10 | a0001c0004t0001g0006a0001c0004t0001g0007a0001c0004t0001g0010others(7): Show | 10 | HG01071.hp2 HG01074.hp2 HG01516.hp2 others(7): Show |
intron_variant | MODIFIER | c.1585-13322T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117574417 | ||||||
| chr7:117574560
|
G | A | 3 | a0001c0004t0002g0137a0001c0004t0002g0140a0001c0004t0002g0186 | 3 | HG01074.hp1 HG01192.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1585-13179G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117574560 | ||||||
| chr7:117574971
|
C | T | 1 | a0001c0003t0003g0155 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1585-12768C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117574971 | ||||||
| chr7:117574972
|
G | A | 1 | a0007c0024t0003g0148 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1585-12767G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117574972 | ||||||
| chr7:117575219
|
T | C | 1 | a0001c0001t0002g0063 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1585-12520T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117575219 | ||||||
| chr7:117575430
|
T | C | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.1585-12309T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117575430 | ||||||
| chr7:117575651
|
C | T | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.1585-12088C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117575651 | ||||||
| chr7:117575746
|
G | A | 1 | a0001c0001t0002g0065 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.1585-11993G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117575746 | ||||||
| chr7:117576427
|
G | T | 4 | a0003c0007t0001g0100a0003c0007t0001g0166a0003c0007t0001g0167others(1): Show | 4 | HG00609.hp1 NA18947.hp1 NA18992.hp1 others(1): Show |
intron_variant | MODIFIER | c.1585-11312G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117576427 | ||||||
| chr7:117576494
|
G | T | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.1585-11245G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117576494 | ||||||
| chr7:117576537
|
G | A | 1 | a0001c0005t0003g0156 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1585-11202G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117576537 | ||||||
| chr7:117576562
|
C | G | 3 | a0001c0001t0004g0009a0001c0001t0004g0018a0001c0001t0004g0127 | 3 | HG03130.hp2 NA18906.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.1585-11177C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117576562 | ||||||
| chr7:117576606
|
T | C | 3 | a0001c0001t0002g0029a0001c0001t0002g0051a0001c0001t0002g0054 | 3 | HG02148.hp1 NA18947.hp2 NA19065.hp2 |
intron_variant | MODIFIER | c.1585-11133T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117576606 | ||||||
| chr7:117576658
|
G | A | 1 | a0001c0005t0003g0196 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1585-11081G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117576658 | ||||||
| chr7:117576875
|
TC | T | 64 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(61): Show | 64 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(61): Show |
intron_variant | MODIFIER | c.1585-10862delC | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | 117576875 | |||||
| chr7:117577044
|
C | T | 1 | a0012c0022t0001g0091 | 1 | NA18993.hp1 | intron_variant | MODIFIER | c.1585-10695C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117577044 | ||||||
| chr7:117577099
|
G | C | 1 | a0001c0003t0003g0184 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.1585-10640G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117577099 | ||||||
| chr7:117577409
|
T | A | 24 | a0001c0001t0002g0075a0001c0001t0002g0076a0001c0001t0002g0077others(21): Show | 24 | HG01243.hp2 HG01891.hp1 HG02109.hp1 others(21): Show |
intron_variant | MODIFIER | c.1585-10330T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117577409 | ||||||
| chr7:117577667
|
C | T | 136 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(133): Show | 137 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(134): Show |
intron_variant | MODIFIER | c.1585-10072C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117577667 | ||||||
| chr7:117577671
|
C | T | 43 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0075others(40): Show | 43 | HG01071.hp2 HG01074.hp1 HG01074.hp2 others(40): Show |
intron_variant | MODIFIER | c.1585-10068C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117577671 | ||||||
| chr7:117577885
|
G | A | 1 | a0001c0001t0005g0059 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.1585-9854G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117577885 | ||||||
| chr7:117577933
|
T | C | 6 | a0001c0004t0001g0006a0001c0004t0001g0007a0001c0004t0001g0010others(3): Show | 6 | HG01071.hp2 HG01074.hp2 HG01516.hp2 others(3): Show |
intron_variant | MODIFIER | c.1585-9806T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117577933 | ||||||
| chr7:117578092
|
C | T | 1 | a0002c0002t0001g0092 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.1585-9647C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117578092 | ||||||
| chr7:117578105
|
T | A | 115 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(112): Show | 115 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(112): Show |
intron_variant | MODIFIER | c.1585-9634T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117578105 | ||||||
| chr7:117578209
|
C | G | 2 | a0001c0004t0001g0017a0001c0004t0002g0016 | 2 | HG02109.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.1585-9530C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117578209 | ||||||
| chr7:117578290
|
C | A | 2 | a0001c0001t0002g0003a0001c0001t0002g0004 | 2 | HG01433.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.1585-9449C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117578290 | ||||||
| chr7:117578521
|
G | A | 136 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(133): Show | 137 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(134): Show |
intron_variant | MODIFIER | c.1585-9218G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117578521 | ||||||
| chr7:117579127
|
G | A | 5 | a0001c0001t0002g0151a0001c0005t0003g0149a0001c0005t0003g0150others(2): Show | 5 | HG02818.hp2 HG02886.hp2 HG03017.hp2 others(2): Show |
intron_variant | MODIFIER | c.1585-8612G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117579127 | ||||||
| chr7:117579180
|
A | G | 1 | a0001c0004t0002g0008 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1585-8559A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117579180 | ||||||
| chr7:117579337
|
T | C | 2 | a0001c0006t0006g0013a0001c0006t0006g0014 | 2 | HG02970.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1585-8402T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117579337 | ||||||
| chr7:117579471
|
T | G | 1 | a0002c0002t0001g0174 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.1585-8268T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117579471 | ||||||
| chr7:117579744
|
G | C | 1 | a0002c0002t0001g0092 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.1585-7995G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117579744 | ||||||
| chr7:117579781
|
C | T | 64 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(61): Show | 64 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(61): Show |
intron_variant | MODIFIER | c.1585-7958C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117579781 | ||||||
| chr7:117579795
|
A | T | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1585-7944A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117579795 | ||||||
| chr7:117580337
|
G | A | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.1585-7402G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117580337 | ||||||
| chr7:117580349
|
A | G | 51 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0075others(48): Show | 51 | HG01071.hp2 HG01074.hp1 HG01074.hp2 others(48): Show |
intron_variant | MODIFIER | c.1585-7390A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117580349 | ||||||
| chr7:117580365
|
T | C | 3 | a0001c0005t0003g0194a0001c0005t0003g0196a0001c0005t0003g0197 | 3 | HG02145.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.1585-7374T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117580365 | ||||||
| chr7:117580585
|
T | C | 3 | a0001c0005t0003g0194a0001c0005t0003g0196a0001c0005t0003g0197 | 3 | HG02145.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.1585-7154T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117580585 | ||||||
| chr7:117580630
|
G | A | 52 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(49): Show | 52 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(49): Show |
intron_variant | MODIFIER | c.1585-7109G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117580630 | ||||||
| chr7:117580807
|
A | G | 115 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(112): Show | 115 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(112): Show |
intron_variant | MODIFIER | c.1585-6932A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117580807 | ||||||
| chr7:117580952
|
G | A | 115 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(112): Show | 115 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(112): Show |
intron_variant | MODIFIER | c.1585-6787G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117580952 | ||||||
| chr7:117581122
|
G | A | 1 | a0002c0002t0001g0109 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.1585-6617G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117581122 | ||||||
| chr7:117581177
|
G | A | 3 | a0001c0006t0003g0193a0001c0006t0003g0198a0001c0019t0003g0192 | 3 | HG02258.hp1 HG02559.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.1585-6562G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117581177 | ||||||
| chr7:117581497
|
C | G | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1585-6242C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117581497 | ||||||
| chr7:117581633
|
A | G | 1 | a0002c0002t0001g0175 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.1585-6106A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117581633 | ||||||
| chr7:117581792
|
C | T | 1 | a0003c0007t0001g0100 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.1585-5947C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117581792 | ||||||
| chr7:117581817
|
C | G | 4 | a0001c0001t0002g0075a0001c0001t0002g0077a0001c0001t0002g0078others(1): Show | 4 | HG01891.hp1 HG02258.hp2 HG02895.hp2 others(1): Show |
intron_variant | MODIFIER | c.1585-5922C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117581817 | ||||||
| chr7:117581819
|
C | T | 1 | a0001c0003t0003g0155 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1585-5920C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117581819 | ||||||
| chr7:117582184
|
A | G | 52 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(49): Show | 52 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(49): Show |
intron_variant | MODIFIER | c.1585-5555A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117582184 | ||||||
| chr7:117583323
|
C | T | 14 | a0001c0001t0002g0075a0001c0001t0002g0076a0001c0001t0002g0077others(11): Show | 14 | HG01243.hp2 HG01891.hp1 HG02109.hp2 others(11): Show |
intron_variant | MODIFIER | c.1585-4416C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117583323 | ||||||
| chr7:117583388
|
T | C | 200 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(197): Show | 201 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(198): Show |
intron_variant | MODIFIER | c.1585-4351T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117583388 | ||||||
| chr7:117583390
|
G | C | 200 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(197): Show | 201 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(198): Show |
intron_variant | MODIFIER | c.1585-4349G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117583390 | ||||||
| chr7:117583536
|
A | G | 135 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(132): Show | 136 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(133): Show |
intron_variant | MODIFIER | c.1585-4203A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117583536 | ||||||
| chr7:117583606
|
G | A | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1585-4133G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117583606 | ||||||
| chr7:117583642
|
CT | C | 135 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(132): Show | 136 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(133): Show |
intron_variant | MODIFIER | c.1585-4086delT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | 117583642 | |||||
| chr7:117583710
|
G | A | 114 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(111): Show | 114 | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(111): Show |
intron_variant | MODIFIER | c.1585-4029G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117583710 | ||||||
| chr7:117583765
|
G | A | 3 | a0001c0004t0002g0137a0001c0004t0002g0140a0001c0004t0002g0186 | 3 | HG01074.hp1 HG01192.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1585-3974G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117583765 | ||||||
| chr7:117583884
|
G | A | 1 | a0001c0001t0001g0056 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.1585-3855G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117583884 | ||||||
| chr7:117584386
|
G | A | 199 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(196): Show | 200 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(197): Show |
intron_variant | MODIFIER | c.1585-3353G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117584386 | ||||||
| chr7:117584596
|
G | A | 2 | a0001c0001t0004g0135a0001c0001t0004g0138 | 2 | HG02922.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.1585-3143G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117584596 | ||||||
| chr7:117584619
|
T | C | 2 | a0001c0001t0004g0072a0001c0001t0004g0126 | 2 | HG03225.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.1585-3120T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117584619 | ||||||
| chr7:117584670
|
C | A | 135 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(132): Show | 136 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(133): Show |
intron_variant | MODIFIER | c.1585-3069C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117584670 | ||||||
| chr7:117584824
|
T | C | 7 | a0001c0001t0004g0009a0001c0001t0004g0018a0001c0001t0004g0072others(4): Show | 7 | HG02922.hp1 HG03130.hp2 HG03225.hp1 others(4): Show |
intron_variant | MODIFIER | c.1585-2915T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117584824 | ||||||
| chr7:117584926
|
T | G | 114 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(111): Show | 115 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(112): Show |
intron_variant | MODIFIER | c.1585-2813T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117584926 | ||||||
| chr7:117584930
|
GTTTGT | G | 108 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(105): Show | 109 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(106): Show |
intron_variant | MODIFIER | c.1585-2785_1585-278 others(9): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | 117584930 | |||||
| chr7:117585105
|
C | T | 107 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(104): Show | 108 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(105): Show |
intron_variant | MODIFIER | c.1585-2634C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117585105 | ||||||
| chr7:117585591
|
C | T | 2 | a0001c0001t0004g0135a0001c0001t0004g0138 | 2 | HG02922.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.1585-2148C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117585591 | ||||||
| chr7:117586309
|
G | A | 3 | a0001c0003t0003g0180a0001c0003t0003g0181a0001c0003t0003g0185 | 3 | HG01070.hp1 HG01071.hp1 HG01346.hp2 |
intron_variant | MODIFIER | c.1585-1430G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117586309 | ||||||
| chr7:117586675
|
G | T | 3 | a0001c0006t0003g0193a0001c0006t0003g0198a0001c0019t0003g0192 | 3 | HG02258.hp1 HG02559.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.1585-1064G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117586675 | ||||||
| chr7:117586850
|
G | A | 13 | a0001c0003t0003g0001a0001c0003t0003g0116a0001c0003t0003g0134others(10): Show | 14 | HG00323.hp1 HG01070.hp1 HG01071.hp1 others(11): Show |
intron_variant | MODIFIER | c.1585-889G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117586850 | ||||||
| chr7:117586884
|
A | G | 3 | a0001c0005t0003g0194a0001c0005t0003g0196a0001c0005t0003g0197 | 3 | HG02145.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.1585-855A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117586884 | ||||||
| chr7:117587121
|
A | G | 1 | a0001c0003t0003g0116 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.1585-618A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117587121 | ||||||
| chr7:117587427
|
G | T | 1 | a0001c0001t0002g0051 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.1585-312G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117587427 | ||||||
| chr7:117587667
|
G | A | 1 | a0001c0004t0002g0008 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1585-72G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | chr7 | 117587667 | ||||||
| chr7:117587972
|
G | T | 1 | a0002c0020t0002g0079 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1679+139G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 12/26 | chr7 | 117587972 | ||||||
| chr7:117588050
|
G | A | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.1679+217G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 12/26 | chr7 | 117588050 | ||||||
| chr7:117588150
|
T | C | 2 | a0001c0001t0002g0003a0001c0001t0002g0004 | 2 | HG01433.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.1679+317T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 12/26 | chr7 | 117588150 | ||||||
| chr7:117588270
|
G | A | 1 | a0002c0002t0001g0081 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.1679+437G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 12/26 | chr7 | 117588270 | ||||||
| chr7:117588317
|
G | T | 1 | a0002c0002t0001g0090 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.1679+484G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 12/26 | chr7 | 117588317 | ||||||
| chr7:117588323
|
A | G | 1 | a0001c0004t0001g0017 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1679+490A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 12/26 | chr7 | 117588323 | ||||||
| chr7:117588569
|
T | C | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.1679+736T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 12/26 | chr7 | 117588569 | ||||||
| chr7:117588958
|
C | G | 11 | a0001c0004t0002g0115a0001c0004t0002g0124a0001c0004t0002g0125others(8): Show | 11 | HG01074.hp1 HG01192.hp2 HG01433.hp1 others(8): Show |
intron_variant | MODIFIER | c.1679+1125C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 12/26 | chr7 | 117588958 | ||||||
| chr7:117589113
|
G | A | 135 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(132): Show | 136 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(133): Show |
intron_variant | MODIFIER | c.1680-1240G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 12/26 | chr7 | 117589113 | ||||||
| chr7:117589191
|
C | A | 3 | a0001c0003t0003g0113a0001c0003t0003g0114a0001c0003t0003g0178 | 3 | HG02723.hp1 HG02818.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.1680-1162C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 12/26 | chr7 | 117589191 | ||||||
| chr7:117589282
|
A | G | 135 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(132): Show | 136 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(133): Show |
intron_variant | MODIFIER | c.1680-1071A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 12/26 | chr7 | 117589282 | ||||||
| chr7:117589313
|
G | A | 1 | a0001c0004t0002g0008 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1680-1040G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 12/26 | chr7 | 117589313 | ||||||
| chr7:117589483
|
T | A | 135 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(132): Show | 136 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(133): Show |
intron_variant | MODIFIER | c.1680-870T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 12/26 | chr7 | 117589483 | ||||||
| chr7:117589506
|
A | G | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1680-847A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 12/26 | chr7 | 117589506 | ||||||
| chr7:117589765
|
A | G | 135 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(132): Show | 136 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(133): Show |
intron_variant | MODIFIER | c.1680-588A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 12/26 | chr7 | 117589765 | ||||||
| chr7:117589783
|
G | T | 135 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(132): Show | 136 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(133): Show |
intron_variant | MODIFIER | c.1680-570G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 12/26 | chr7 | 117589783 | ||||||
| chr7:117589905
|
A | G | 3 | a0001c0005t0003g0194a0001c0005t0003g0196a0001c0005t0003g0197 | 3 | HG02145.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.1680-448A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 12/26 | chr7 | 117589905 | ||||||
| chr7:117589939
|
C | T | 135 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(132): Show | 136 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(133): Show |
intron_variant | MODIFIER | c.1680-414C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 12/26 | chr7 | 117589939 | ||||||
| chr7:117590229
|
T | C | 23 | a0001c0001t0002g0075a0001c0001t0002g0076a0001c0001t0002g0077others(20): Show | 23 | HG01243.hp2 HG01891.hp1 HG02109.hp2 others(20): Show |
intron_variant | MODIFIER | c.1680-124T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 12/26 | chr7 | 117590229 | ||||||
| chr7:117590591
|
T | A | 107 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(104): Show | 108 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(105): Show |
intron_variant | MODIFIER | c.1766+152T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 13/26 | chr7 | 117590591 | ||||||
| chr7:117590726
|
T | C | 50 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(47): Show | 50 | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(47): Show |
intron_variant | MODIFIER | c.1766+287T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 13/26 | chr7 | 117590726 | ||||||
| chr7:117591092
|
C | T | 198 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(195): Show | 199 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(196): Show |
intron_variant | MODIFIER | c.1766+653C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 13/26 | chr7 | 117591092 | ||||||
| chr7:117591514
|
A | G | 1 | a0001c0001t0004g0118 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1767-420A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 13/26 | chr7 | 117591514 | ||||||
| chr7:117591585
|
G | A | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.1767-349G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 13/26 | chr7 | 117591585 | ||||||
| chr7:117591780
|
A | G | 2 | a0001c0001t0002g0003a0001c0001t0002g0004 | 2 | HG01433.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.1767-154A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 13/26 | chr7 | 117591780 | ||||||
| chr7:117591798
|
T | C | 27 | a0001c0001t0002g0151a0001c0003t0003g0001a0001c0003t0003g0113others(24): Show | 28 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(25): Show |
intron_variant | MODIFIER | c.1767-136T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 13/26 | chr7 | 117591798 | ||||||
| chr7:117592758
|
G | T | 1 | a0001c0001t0002g0035 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.2490+101G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 14/26 | chr7 | 117592758 | ||||||
| chr7:117592854
|
A | T | 2 | a0001c0001t0002g0003a0001c0001t0002g0004 | 2 | HG01433.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.2490+197A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 14/26 | chr7 | 117592854 | ||||||
| chr7:117592890
|
T | G | 1 | a0001c0001t0002g0036 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.2490+233T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 14/26 | chr7 | 117592890 | ||||||
| chr7:117593197
|
A | G | 1 | a0001c0006t0006g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2490+540A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 14/26 | chr7 | 117593197 | ||||||
| chr7:117593418
|
A | G | 1 | a0001c0001t0002g0058 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.2490+761A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 14/26 | chr7 | 117593418 | ||||||
| chr7:117593533
|
A | G | 1 | a0001c0003t0003g0001 | 2 | HG01257.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.2490+876A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 14/26 | chr7 | 117593533 | ||||||
| chr7:117593627
|
G | A | 1 | a0001c0001t0002g0022 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.2490+970G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 14/26 | chr7 | 117593627 | ||||||
| chr7:117593640
|
G | C | 135 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(132): Show | 136 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(133): Show |
intron_variant | MODIFIER | c.2490+983G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 14/26 | chr7 | 117593640 | ||||||
| chr7:117593759
|
C | A | 1 | a0014c0025t0001g0172 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.2490+1102C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 14/26 | chr7 | 117593759 | ||||||
| chr7:117594122
|
G | A | 135 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(132): Show | 136 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(133): Show |
intron_variant | MODIFIER | c.2491-808G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 14/26 | chr7 | 117594122 | ||||||
| chr7:117594344
|
T | A | 27 | a0001c0004t0001g0006a0001c0004t0001g0007a0001c0004t0001g0010others(24): Show | 27 | HG01071.hp2 HG01074.hp1 HG01074.hp2 others(24): Show |
intron_variant | MODIFIER | c.2491-586T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 14/26 | chr7 | 117594344 | ||||||
| chr7:117594483
|
A | G | 135 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(132): Show | 136 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(133): Show |
intron_variant | MODIFIER | c.2491-447A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 14/26 | chr7 | 117594483 | ||||||
| chr7:117595142
|
CAT | C | 107 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(104): Show | 108 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(105): Show |
intron_variant | MODIFIER | c.2619+86_2619+87del others(2): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr7 | 117595142 | |||||
| chr7:117595164
|
T | A | 51 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(48): Show | 51 | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(48): Show |
intron_variant | MODIFIER | c.2619+106T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117595164 | ||||||
| chr7:117595496
|
A | G | 107 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(104): Show | 108 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(105): Show |
intron_variant | MODIFIER | c.2619+438A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117595496 | ||||||
| chr7:117595523
|
G | T | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.2619+465G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117595523 | ||||||
| chr7:117595671
|
C | A | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.2619+613C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117595671 | ||||||
| chr7:117595832
|
A | G | 135 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(132): Show | 136 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(133): Show |
intron_variant | MODIFIER | c.2619+774A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117595832 | ||||||
| chr7:117596176
|
C | T | 2 | a0001c0001t0002g0003a0001c0001t0002g0004 | 2 | HG01433.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.2619+1118C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117596176 | ||||||
| chr7:117596181
|
G | GC | 200 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(197): Show | 201 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(198): Show |
intron_variant | MODIFIER | c.2619+1125dupC | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr7 | 117596181 | |||||
| chr7:117596212
|
T | C | 135 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(132): Show | 136 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(133): Show |
intron_variant | MODIFIER | c.2619+1154T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117596212 | ||||||
| chr7:117596364
|
C | A | 1 | a0001c0001t0002g0076 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.2619+1306C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117596364 | ||||||
| chr7:117596624
|
A | C | 1 | a0002c0002t0001g0110 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.2619+1566A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117596624 | ||||||
| chr7:117596778
|
A | G | 3 | a0001c0005t0003g0194a0001c0005t0003g0196a0001c0005t0003g0197 | 3 | HG02145.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.2619+1720A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117596778 | ||||||
| chr7:117596958
|
C | T | 1 | a0001c0003t0003g0001 | 2 | HG01257.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.2619+1900C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117596958 | ||||||
| chr7:117596995
|
C | T | 1 | a0001c0001t0004g0182 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.2619+1937C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117596995 | ||||||
| chr7:117597224
|
C | T | 51 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(48): Show | 51 | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(48): Show |
intron_variant | MODIFIER | c.2619+2166C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117597224 | ||||||
| chr7:117597274
|
C | T | 79 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(76): Show | 79 | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(76): Show |
intron_variant | MODIFIER | c.2619+2216C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117597274 | ||||||
| chr7:117597317
|
C | T | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.2619+2259C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117597317 | ||||||
| chr7:117597380
|
C | T | 22 | a0001c0001t0002g0075a0001c0001t0002g0076a0001c0001t0002g0077others(19): Show | 22 | HG01243.hp2 HG01891.hp1 HG02109.hp2 others(19): Show |
intron_variant | MODIFIER | c.2619+2322C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117597380 | ||||||
| chr7:117597523
|
C | T | 1 | a0002c0002t0001g0070 | 1 | NA19086.hp2 | intron_variant | MODIFIER | c.2619+2465C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117597523 | ||||||
| chr7:117597726
|
C | G | 3 | a0001c0005t0003g0194a0001c0005t0003g0196a0001c0005t0003g0197 | 3 | HG02145.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.2619+2668C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117597726 | ||||||
| chr7:117597773
|
T | C | 1 | a0001c0003t0003g0145 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.2619+2715T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117597773 | ||||||
| chr7:117597813
|
TA | T | 70 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0020others(67): Show | 70 | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(67): Show |
intron_variant | MODIFIER | c.2619+2767delA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr7 | 117597813 | |||||
| chr7:117597858
|
A | G | 1 | a0001c0001t0002g0004 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.2619+2800A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117597858 | ||||||
| chr7:117597881
|
C | T | 11 | a0001c0004t0002g0115a0001c0004t0002g0124a0001c0004t0002g0125others(8): Show | 11 | HG01074.hp1 HG01192.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.2619+2823C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117597881 | ||||||
| chr7:117598031
|
A | G | 1 | a0002c0002t0001g0109 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.2619+2973A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117598031 | ||||||
| chr7:117598321
|
C | T | 1 | a0002c0002t0008g0162 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.2619+3263C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117598321 | ||||||
| chr7:117598325
|
T | G | 132 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0020others(129): Show | 133 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(130): Show |
intron_variant | MODIFIER | c.2619+3267T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117598325 | ||||||
| chr7:117598367
|
C | A | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.2619+3309C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117598367 | ||||||
| chr7:117598391
|
T | G | 133 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0020others(130): Show | 134 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(131): Show |
intron_variant | MODIFIER | c.2619+3333T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117598391 | ||||||
| chr7:117598399
|
A | C | 61 | a0001c0001t0002g0020a0001c0001t0002g0022a0001c0001t0002g0023others(58): Show | 61 | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(58): Show |
intron_variant | MODIFIER | c.2619+3341A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117598399 | ||||||
| chr7:117598666
|
G | C | 8 | a0001c0001t0004g0009a0001c0001t0004g0018a0001c0001t0004g0072others(5): Show | 8 | HG02723.hp2 HG02922.hp1 HG03130.hp2 others(5): Show |
intron_variant | MODIFIER | c.2619+3608G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117598666 | ||||||
| chr7:117599040
|
C | T | 1 | a0001c0001t0002g0051 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.2620-3786C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117599040 | ||||||
| chr7:117599318
|
C | G | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.2620-3508C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117599318 | ||||||
| chr7:117599538
|
A | C | 1 | a0002c0002t0001g0080 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.2620-3288A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117599538 | ||||||
| chr7:117599568
|
ATT | A | 5 | a0001c0004t0002g0008a0001c0006t0006g0005a0001c0006t0006g0013others(2): Show | 5 | HG01346.hp1 HG02630.hp2 HG02970.hp2 others(2): Show |
intron_variant | MODIFIER | c.2620-3257_2620-325 others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117599568 | ||||||
| chr7:117600006
|
A | G | 1 | a0001c0003t0003g0145 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.2620-2820A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117600006 | ||||||
| chr7:117600121
|
G | A | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.2620-2705G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117600121 | ||||||
| chr7:117600609
|
G | C | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.2620-2217G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117600609 | ||||||
| chr7:117600614
|
A | T | 126 | a0001c0001t0002g0020a0001c0001t0002g0022a0001c0001t0002g0023others(123): Show | 127 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(124): Show |
intron_variant | MODIFIER | c.2620-2212A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117600614 | ||||||
| chr7:117600667
|
T | C | 3 | a0002c0002t0001g0095a0002c0002t0001g0096a0002c0002t0001g0164 | 3 | NA18966.hp1 NA19060.hp1 NA19091.hp2 |
intron_variant | MODIFIER | c.2620-2159T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117600667 | ||||||
| chr7:117600965
|
C | G | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.2620-1861C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117600965 | ||||||
| chr7:117600977
|
C | A | 128 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0020others(125): Show | 129 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(126): Show |
intron_variant | MODIFIER | c.2620-1849C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117600977 | ||||||
| chr7:117601329
|
G | A | 5 | a0001c0005t0003g0149a0001c0005t0003g0150a0001c0005t0003g0156others(2): Show | 5 | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.2620-1497G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117601329 | ||||||
| chr7:117601340
|
A | T | 66 | a0001c0001t0002g0195a0001c0001t0004g0009a0001c0001t0004g0018others(63): Show | 67 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(64): Show |
intron_variant | MODIFIER | c.2620-1486A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117601340 | ||||||
| chr7:117601454
|
A | G | 37 | a0001c0003t0003g0001a0001c0003t0003g0021a0001c0003t0003g0026others(34): Show | 38 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(35): Show |
intron_variant | MODIFIER | c.2620-1372A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117601454 | ||||||
| chr7:117601659
|
A | G | 1 | a0002c0002t0001g0073 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.2620-1167A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117601659 | ||||||
| chr7:117601745
|
G | A | 1 | a0002c0023t0006g0173 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.2620-1081G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117601745 | ||||||
| chr7:117601805
|
T | C | 38 | a0001c0001t0002g0195a0001c0003t0003g0001a0001c0003t0003g0021others(35): Show | 39 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(36): Show |
intron_variant | MODIFIER | c.2620-1021T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117601805 | ||||||
| chr7:117601970
|
CAAT | C | 26 | a0001c0003t0003g0001a0001c0003t0003g0021a0001c0003t0003g0026others(23): Show | 27 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(24): Show |
intron_variant | MODIFIER | c.2620-851_2620-849d others(5): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr7 | 117601970 | |||||
| chr7:117601997
|
C | T | 1 | a0001c0003t0003g0001 | 2 | HG01257.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.2620-829C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117601997 | ||||||
| chr7:117602039
|
CT | C | 5 | a0001c0003t0003g0021a0001c0003t0003g0026a0001c0003t0003g0040others(2): Show | 5 | HG02040.hp2 HG03017.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.2620-777delT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr7 | 117602039 | |||||
| chr7:117602171
|
C | T | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.2620-655C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117602171 | ||||||
| chr7:117602612
|
C | A | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.2620-214C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117602612 | ||||||
| chr7:117602646
|
G | A | 4 | a0001c0006t0006g0005a0001c0006t0006g0013a0001c0006t0006g0014others(1): Show | 4 | HG01346.hp1 HG02970.hp2 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.2620-180G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 15/26 | chr7 | 117602646 | ||||||
| chr7:117603148
|
C | A | 10 | a0001c0005t0003g0194a0001c0005t0003g0196a0001c0005t0003g0197others(7): Show | 10 | HG01346.hp1 HG02145.hp2 HG02258.hp1 others(7): Show |
intron_variant | MODIFIER | c.2657+285C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 16/26 | chr7 | 117603148 | ||||||
| chr7:117603889
|
C | A | 3 | a0001c0006t0003g0193a0001c0006t0003g0198a0001c0019t0003g0192 | 3 | HG02258.hp1 HG02559.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.2908+107C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 17/26 | chr7 | 117603889 | ||||||
| chr7:117603920
|
C | T | 1 | a0002c0002t0001g0102 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.2908+138C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 17/26 | chr7 | 117603920 | ||||||
| chr7:117603995
|
G | A | 1 | a0017c0011t0001g0112 | 1 | NA19090.hp1 | intron_variant | MODIFIER | c.2908+213G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 17/26 | chr7 | 117603995 | ||||||
| chr7:117604170
|
TTCTA | T | 9 | a0001c0001t0004g0009a0001c0001t0004g0018a0001c0001t0004g0072others(6): Show | 9 | HG02723.hp2 HG02922.hp1 HG03130.hp2 others(6): Show |
intron_variant | MODIFIER | c.2908+390_2908+393d others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 17/26 | INFO_REALIGN_3_PRIME | chr7 | 117604170 | |||||
| chr7:117604346
|
G | C | 1 | a0001c0001t0002g0195 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.2908+564G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 17/26 | chr7 | 117604346 | ||||||
| chr7:117604591
|
T | C | 4 | a0001c0006t0006g0005a0001c0006t0006g0013a0001c0006t0006g0014others(1): Show | 4 | HG01346.hp1 HG02970.hp2 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.2908+809T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 17/26 | chr7 | 117604591 | ||||||
| chr7:117604659
|
G | A | 4 | a0001c0006t0006g0005a0001c0006t0006g0013a0001c0006t0006g0014others(1): Show | 4 | HG01346.hp1 HG02970.hp2 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.2908+877G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 17/26 | chr7 | 117604659 | ||||||
| chr7:117604988
|
A | C | 1 | a0001c0004t0002g0016 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.2908+1206A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 17/26 | chr7 | 117604988 | ||||||
| chr7:117605058
|
G | A | 1 | a0001c0001t0002g0057 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.2908+1276G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 17/26 | chr7 | 117605058 | ||||||
| chr7:117605446
|
C | T | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.2909-1228C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 17/26 | chr7 | 117605446 | ||||||
| chr7:117605811
|
T | C | 9 | a0001c0001t0004g0009a0001c0001t0004g0018a0001c0001t0004g0072others(6): Show | 9 | HG02723.hp2 HG02922.hp1 HG03130.hp2 others(6): Show |
intron_variant | MODIFIER | c.2909-863T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 17/26 | chr7 | 117605811 | ||||||
| chr7:117605874
|
C | T | 1 | a0001c0004t0002g0008 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.2909-800C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 17/26 | chr7 | 117605874 | ||||||
| chr7:117605928
|
A | G | 10 | a0001c0001t0002g0075a0001c0001t0002g0076a0001c0001t0002g0077others(7): Show | 10 | HG01891.hp1 HG02109.hp2 HG02258.hp2 others(7): Show |
intron_variant | MODIFIER | c.2909-746A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 17/26 | chr7 | 117605928 | ||||||
| chr7:117606113
|
C | T | 1 | a0001c0001t0002g0195 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.2909-561C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 17/26 | chr7 | 117606113 | ||||||
| chr7:117606228
|
G | C | 1 | a0002c0023t0006g0173 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.2909-446G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 17/26 | chr7 | 117606228 | ||||||
| chr7:117606235
|
G | A | 3 | a0001c0006t0003g0193a0001c0006t0003g0198a0001c0019t0003g0192 | 3 | HG02258.hp1 HG02559.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.2909-439G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 17/26 | chr7 | 117606235 | ||||||
| chr7:117606261
|
A | C | 60 | a0001c0001t0002g0020a0001c0001t0002g0022a0001c0001t0002g0023others(57): Show | 60 | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(57): Show |
intron_variant | MODIFIER | c.2909-413A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 17/26 | chr7 | 117606261 | ||||||
| chr7:117606581
|
C | T | 1 | a0001c0001t0004g0127 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.2909-93C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 17/26 | chr7 | 117606581 | ||||||
| chr7:117606582
|
G | A | 26 | a0001c0003t0003g0001a0001c0003t0003g0021a0001c0003t0003g0026others(23): Show | 27 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(24): Show |
intron_variant | MODIFIER | c.2909-92G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 17/26 | chr7 | 117606582 | ||||||
| chr7:117606603
|
G | C | 5 | a0001c0005t0003g0149a0001c0005t0003g0150a0001c0005t0003g0156others(2): Show | 5 | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.2909-71G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 17/26 | chr7 | 117606603 | ||||||
| chr7:117606773
|
G | A | 1 | a0002c0002t0001g0107 | 1 | NA18978.hp2 | intron_variant | MODIFIER | c.2988+20G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | chr7 | 117606773 | ||||||
| chr7:117606991
|
G | C | 2 | a0001c0001t0002g0176a0001c0001t0002g0177 | 2 | HG01243.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.2988+238G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | chr7 | 117606991 | ||||||
| chr7:117607104
|
C | A | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.2988+351C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | chr7 | 117607104 | ||||||
| chr7:117607173
|
G | T | 3 | a0001c0005t0003g0194a0001c0005t0003g0196a0001c0005t0003g0197 | 3 | HG02145.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.2988+420G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | chr7 | 117607173 | ||||||
| chr7:117607197
|
G | T | 5 | a0001c0005t0003g0149a0001c0005t0003g0150a0001c0005t0003g0156others(2): Show | 5 | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.2988+444G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | chr7 | 117607197 | ||||||
| chr7:117607337
|
G | C | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.2988+584G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | chr7 | 117607337 | ||||||
| chr7:117607389
|
A | G | 25 | a0001c0001t0004g0009a0001c0001t0004g0018a0001c0001t0004g0072others(22): Show | 25 | HG01346.hp1 HG02145.hp2 HG02258.hp1 others(22): Show |
intron_variant | MODIFIER | c.2988+636A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | chr7 | 117607389 | ||||||
| chr7:117607437
|
T | C | 1 | a0002c0002t0001g0103 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.2988+684T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | chr7 | 117607437 | ||||||
| chr7:117608138
|
T | C | 1 | a0001c0001t0002g0055 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.2988+1385T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | chr7 | 117608138 | ||||||
| chr7:117608180
|
T | G | 38 | a0001c0001t0002g0195a0001c0003t0003g0001a0001c0003t0003g0021others(35): Show | 39 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(36): Show |
intron_variant | MODIFIER | c.2988+1427T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | chr7 | 117608180 | ||||||
| chr7:117608207
|
AT | A | 60 | a0001c0001t0002g0020a0001c0001t0002g0022a0001c0001t0002g0023others(57): Show | 60 | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(57): Show |
intron_variant | MODIFIER | c.2988+1465delT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr7 | 117608207 | |||||
| chr7:117608307
|
C | T | 1 | a0001c0001t0005g0025 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.2988+1554C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | chr7 | 117608307 | ||||||
| chr7:117608488
|
T | C | 1 | a0006c0010t0001g0170 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.2988+1735T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | chr7 | 117608488 | ||||||
| chr7:117608700
|
T | C | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.2989-1819T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | chr7 | 117608700 | ||||||
| chr7:117608791
|
T | C | 26 | a0001c0001t0004g0009a0001c0001t0004g0018a0001c0001t0004g0072others(23): Show | 26 | HG01346.hp1 HG01496.hp1 HG02145.hp2 others(23): Show |
intron_variant | MODIFIER | c.2989-1728T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | chr7 | 117608791 | ||||||
| chr7:117608849
|
A | T | 1 | a0001c0003t0003g0116 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.2989-1670A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | chr7 | 117608849 | ||||||
| chr7:117609395
|
C | T | 2 | a0001c0001t0001g0039a0001c0017t0001g0064 | 2 | NA19066.hp1 NA19072.hp1 |
intron_variant | MODIFIER | c.2989-1124C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | chr7 | 117609395 | ||||||
| chr7:117609454
|
C | A | 3 | a0001c0006t0003g0193a0001c0006t0003g0198a0001c0019t0003g0192 | 3 | HG02258.hp1 HG02559.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.2989-1065C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | chr7 | 117609454 | ||||||
| chr7:117609788
|
T | C | 5 | a0001c0005t0003g0149a0001c0005t0003g0150a0001c0005t0003g0156others(2): Show | 5 | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.2989-731T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | chr7 | 117609788 | ||||||
| chr7:117609924
|
G | C | 2 | a0001c0001t0002g0003a0001c0001t0002g0004 | 2 | HG01433.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.2989-595G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | chr7 | 117609924 | ||||||
| chr7:117610130
|
G | C | 1 | a0001c0003t0003g0178 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.2989-389G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | chr7 | 117610130 | ||||||
| chr7:117610162
|
C | T | 1 | a0001c0003t0003g0184 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2989-357C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | chr7 | 117610162 | ||||||
| chr7:117610425
|
CA | C | 69 | a0001c0001t0002g0195a0001c0001t0004g0009a0001c0001t0004g0018others(66): Show | 70 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(67): Show |
intron_variant | MODIFIER | c.2989-81delA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr7 | 117610425 | |||||
| chr7:117610450
|
C | G | 1 | a0002c0002t0001g0152 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.2989-69C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 18/26 | chr7 | 117610450 | ||||||
| chr7:117610711
|
A | T | 10 | a0001c0005t0003g0194a0001c0005t0003g0196a0001c0005t0003g0197others(7): Show | 10 | HG01346.hp1 HG02145.hp2 HG02258.hp1 others(7): Show |
intron_variant | MODIFIER | c.3139+42A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 19/26 | chr7 | 117610711 | ||||||
| chr7:117610868
|
A | T | 3 | a0001c0006t0003g0193a0001c0006t0003g0198a0001c0019t0003g0192 | 3 | HG02258.hp1 HG02559.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.3139+199A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 19/26 | chr7 | 117610868 | ||||||
| chr7:117611058
|
C | T | 1 | a0001c0003t0003g0048 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.3139+389C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 19/26 | chr7 | 117611058 | ||||||
| chr7:117611124
|
A | T | 1 | a0002c0002t0001g0161 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.3139+455A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 19/26 | chr7 | 117611124 | ||||||
| chr7:117611420
|
A | G | 1 | a0002c0002t0001g0105 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.3140-161A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 19/26 | chr7 | 117611420 | ||||||
| chr7:117611489
|
T | C | 25 | a0001c0001t0004g0009a0001c0001t0004g0018a0001c0001t0004g0072others(22): Show | 25 | HG01346.hp1 HG02145.hp2 HG02258.hp1 others(22): Show |
intron_variant | MODIFIER | c.3140-92T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 19/26 | chr7 | 117611489 | ||||||
| chr7:117611845
|
G | A | 1 | a0001c0003t0003g0145 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.3367+37G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117611845 | ||||||
| chr7:117611933
|
G | GTTTATTA others(32): Show |
1 | a0001c0001t0005g0019 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.3367+132_3367+170d others(41): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117611933 | |||||
| chr7:117612004
|
C | T | 16 | a0001c0005t0003g0149a0001c0005t0003g0150a0001c0005t0003g0156others(13): Show | 16 | HG01346.hp1 HG02145.hp2 HG02258.hp1 others(13): Show |
intron_variant | MODIFIER | c.3367+196C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117612004 | ||||||
| chr7:117612006
|
G | GAT | 11 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0042others(8): Show | 11 | HG01243.hp2 HG01433.hp2 HG01891.hp1 others(8): Show |
intron_variant | MODIFIER | c.3367+213_3367+214d others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612006 | |||||
| chr7:117612006
|
G | GATATATA others(13): Show |
1 | a0001c0001t0002g0054 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.3367+214_3367+215i others(22): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612006 | |||||
| chr7:117612006
|
G | GATATATA others(27): Show |
1 | a0001c0001t0004g0072 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.3367+214_3367+215i others(36): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612006 | |||||
| chr7:117612006
|
GATATATA others(13): Show |
G | 1 | a0002c0023t0006g0173 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.3367+215_3367+234d others(22): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612006 | |||||
| chr7:117612006
|
GATATATA others(15): Show |
G | 3 | a0001c0006t0006g0005a0001c0006t0006g0013a0001c0006t0006g0014 | 3 | HG02970.hp2 NA19030.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.3367+215_3367+236d others(24): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612006 | |||||
| chr7:117612006
|
GATATATA others(17): Show |
G | 1 | a0001c0001t0002g0050 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.3367+215_3367+238d others(26): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612006 | |||||
| chr7:117612008
|
TATATATA others(39): Show |
T | 38 | a0001c0001t0002g0195a0001c0003t0003g0001a0001c0003t0003g0021others(35): Show | 39 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(36): Show |
intron_variant | MODIFIER | c.3367+214_3367+259d others(48): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612008 | |||||
| chr7:117612009
|
A | ATATATAT others(9): Show |
3 | a0001c0001t0002g0058a0002c0002t0002g0088a0016c0028t0002g0031 | 3 | HG02523.hp1 HG03688.hp2 NA19072.hp2 |
intron_variant | MODIFIER | c.3367+214_3367+215i others(18): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612009 | |||||
| chr7:117612009
|
A | ATATATAT others(69): Show |
1 | a0001c0004t0002g0008 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.3367+230_3367+231i others(78): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612009 | |||||
| chr7:117612009
|
ATATATAT others(7): Show |
A | 2 | a0001c0006t0003g0193a0001c0019t0003g0192 | 2 | HG02258.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.3367+215_3367+228d others(16): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612009 | |||||
| chr7:117612011
|
A | ATATATAT others(7): Show |
4 | a0001c0001t0002g0063a0001c0001t0004g0135a0001c0004t0002g0016others(1): Show | 4 | HG00140.hp1 HG03139.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.3367+214_3367+215i others(16): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612011 | |||||
| chr7:117612011
|
ATATATAT others(5): Show |
A | 2 | a0001c0006t0003g0198a0002c0002t0002g0147 | 2 | HG02895.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.3367+215_3367+226d others(14): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612011 | |||||
| chr7:117612013
|
A | ATATATAT others(5): Show |
2 | a0001c0001t0002g0057a0001c0001t0002g0199 | 2 | HG00609.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.3367+214_3367+215i others(14): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612013 | |||||
| chr7:117612013
|
A | ATATATAT others(39): Show |
1 | a0010c0018t0005g0028 | 1 | NA18992.hp2 | intron_variant | MODIFIER | c.3367+214_3367+215i others(48): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612013 | |||||
| chr7:117612013
|
ATATATAT others(3): Show |
A | 2 | a0001c0006t0003g0142a0002c0002t0002g0146 | 2 | HG01258.hp2 HG02280.hp2 |
intron_variant | MODIFIER | c.3367+215_3367+224d others(12): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612013 | |||||
| chr7:117612015
|
A | ATATATAT others(3): Show |
6 | a0001c0001t0002g0023a0001c0001t0002g0034a0001c0001t0002g0035others(3): Show | 6 | HG00099.hp1 HG02922.hp1 HG03669.hp2 others(3): Show |
intron_variant | MODIFIER | c.3367+214_3367+215i others(12): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612015 | |||||
| chr7:117612017
|
A | ATATATAT others(1): Show |
4 | a0001c0001t0002g0024a0001c0001t0002g0030a0001c0001t0002g0055others(1): Show | 4 | HG01993.hp1 HG02080.hp2 HG02165.hp2 others(1): Show |
intron_variant | MODIFIER | c.3367+214_3367+215i others(10): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612017 | |||||
| chr7:117612017
|
A | ATATATAT others(29): Show |
1 | a0001c0001t0005g0047 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.3367+214_3367+215i others(38): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612017 | |||||
| chr7:117612017
|
ATATATG | A | 2 | a0001c0001t0004g0182a0001c0005t0003g0196 | 2 | HG03041.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.3367+215_3367+220d others(8): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612017 | |||||
| chr7:117612019
|
A | ATATATG | 9 | a0001c0001t0002g0020a0001c0001t0002g0029a0001c0001t0002g0036others(6): Show | 9 | HG02129.hp2 HG02895.hp2 HG02896.hp2 others(6): Show |
intron_variant | MODIFIER | c.3367+214_3367+215i others(8): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612019 | |||||
| chr7:117612019
|
A | ATATATGT others(29): Show |
1 | a0001c0001t0005g0025 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.3367+214_3367+215i others(38): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612019 | |||||
| chr7:117612019
|
A | ATATATGT others(33): Show |
1 | a0001c0001t0005g0059 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.3367+214_3367+215i others(42): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612019 | |||||
| chr7:117612019
|
A | ATATATGT others(3): Show |
1 | a0001c0001t0002g0151 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.3367+214_3367+215i others(12): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612019 | |||||
| chr7:117612021
|
A | ATATG | 9 | a0001c0001t0002g0022a0001c0001t0002g0067a0001c0001t0002g0117others(6): Show | 9 | HG02258.hp2 HG02486.hp2 HG02723.hp2 others(6): Show |
intron_variant | MODIFIER | c.3367+214_3367+215i others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612021 | |||||
| chr7:117612023
|
G | A | 50 | a0001c0001t0002g0020a0001c0001t0002g0022a0001c0001t0002g0023others(47): Show | 50 | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(47): Show |
intron_variant | MODIFIER | c.3367+215G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117612023 | ||||||
| chr7:117612023
|
G | GTA | 30 | a0001c0001t0001g0039a0001c0001t0001g0056a0001c0004t0001g0017others(27): Show | 30 | HG00323.hp2 HG00609.hp1 HG01123.hp2 others(27): Show |
intron_variant | MODIFIER | c.3367+244_3367+245d others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612023 | |||||
| chr7:117612023
|
G | GTATA | 8 | a0002c0002t0001g0041a0002c0002t0001g0086a0002c0002t0001g0098others(5): Show | 8 | HG00099.hp2 HG00140.hp2 HG02040.hp1 others(5): Show |
intron_variant | MODIFIER | c.3367+242_3367+245d others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612023 | |||||
| chr7:117612023
|
G | GTATATA | 8 | a0001c0001t0001g0068a0001c0001t0002g0045a0001c0004t0001g0010others(5): Show | 8 | HG02027.hp2 HG02056.hp1 HG02056.hp2 others(5): Show |
intron_variant | MODIFIER | c.3367+240_3367+245d others(8): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612023 | |||||
| chr7:117612023
|
G | GTATATAT others(1): Show |
2 | a0001c0001t0002g0071a0002c0002t0001g0097 | 2 | NA18993.hp2 NA19010.hp2 |
intron_variant | MODIFIER | c.3367+238_3367+245d others(10): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612023 | |||||
| chr7:117612023
|
G | GTATATAT others(3): Show |
1 | a0002c0002t0001g0101 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.3367+236_3367+245d others(12): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612023 | |||||
| chr7:117612023
|
G | GTATATAT others(5): Show |
2 | a0001c0001t0002g0046a0001c0004t0001g0012 | 2 | NA18982.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.3367+234_3367+245d others(14): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612023 | |||||
| chr7:117612023
|
G | GTATATAT others(7): Show |
4 | a0001c0001t0002g0044a0001c0004t0001g0006a0001c0004t0001g0007others(1): Show | 4 | HG01071.hp2 HG01074.hp2 HG03654.hp1 others(1): Show |
intron_variant | MODIFIER | c.3367+232_3367+245d others(16): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612023 | |||||
| chr7:117612023
|
G | GTATATAT others(29): Show |
1 | a0002c0002t0001g0152 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.3367+245_3367+246i others(38): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612023 | |||||
| chr7:117612023
|
G | GTATATAT others(25): Show |
1 | a0006c0010t0001g0170 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.3367+244_3367+245i others(34): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612023 | |||||
| chr7:117612023
|
G | GTGTA | 2 | a0002c0002t0001g0090a0002c0002t0001g0111 | 2 | HG01192.hp1 HG01993.hp2 |
intron_variant | MODIFIER | c.3367+216_3367+217i others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612023 | |||||
| chr7:117612023
|
G | GTGTATA | 2 | a0001c0001t0007g0060a0001c0005t0003g0194 | 2 | HG02145.hp2 NA19090.hp2 |
intron_variant | MODIFIER | c.3367+216_3367+217i others(8): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612023 | |||||
| chr7:117612023
|
GTA | G | 3 | a0002c0002t0001g0085a0002c0002t0001g0158a0002c0021t0001g0165 | 3 | HG01516.hp1 HG02738.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.3367+244_3367+245d others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612023 | |||||
| chr7:117612023
|
GTATA | G | 2 | a0001c0004t0001g0011a0002c0002t0001g0109 | 2 | HG01516.hp2 HG03669.hp1 |
intron_variant | MODIFIER | c.3367+242_3367+245d others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612023 | |||||
| chr7:117612025
|
A | G | 5 | a0001c0001t0002g0032a0001c0001t0002g0076a0001c0001t0002g0123others(2): Show | 5 | HG02109.hp2 HG03130.hp2 HG03139.hp2 others(2): Show |
intron_variant | MODIFIER | c.3367+217A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117612025 | ||||||
| chr7:117612027
|
A | G | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3367+219A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117612027 | ||||||
| chr7:117612029
|
A | G | 2 | a0001c0004t0003g0191a0001c0005t0003g0197 | 2 | HG01496.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.3367+221A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117612029 | ||||||
| chr7:117612031
|
A | ATATATAT others(5): Show |
1 | a0001c0001t0002g0004 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.3367+234_3367+235i others(14): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612031 | |||||
| chr7:117612031
|
A | G | 2 | a0001c0001t0004g0182a0001c0005t0003g0197 | 2 | HG03209.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.3367+223A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117612031 | ||||||
| chr7:117612033
|
A | ATATATAT others(3): Show |
1 | a0001c0001t0002g0003 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.3367+234_3367+235i others(12): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612033 | |||||
| chr7:117612033
|
A | G | 1 | a0001c0005t0003g0196 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.3367+225A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117612033 | ||||||
| chr7:117612035
|
A | G | 2 | a0001c0005t0003g0196a0002c0002t0002g0146 | 2 | HG01258.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.3367+227A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117612035 | ||||||
| chr7:117612036
|
TATATATA others(11): Show |
T | 4 | a0001c0005t0003g0149a0001c0005t0003g0150a0001c0006t0003g0015others(1): Show | 4 | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.3367+242_3367+259d others(20): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612036 | |||||
| chr7:117612037
|
A | G | 2 | a0001c0006t0003g0142a0002c0002t0002g0147 | 2 | HG02280.hp2 NA20805.hp1 |
intron_variant | MODIFIER | c.3367+229A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117612037 | ||||||
| chr7:117612038
|
TATATATA others(9): Show |
T | 1 | a0001c0005t0003g0156 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.3367+244_3367+259d others(18): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612038 | |||||
| chr7:117612045
|
A | ATATATAT others(35): Show |
1 | a0001c0001t0005g0066 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3367+245_3367+246i others(44): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612045 | |||||
| chr7:117612047
|
A | G | 1 | a0002c0023t0006g0173 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.3367+239A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117612047 | ||||||
| chr7:117612049
|
A | G | 3 | a0001c0006t0006g0005a0001c0006t0006g0013a0001c0006t0006g0014 | 3 | HG02970.hp2 NA19030.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.3367+241A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117612049 | ||||||
| chr7:117612050
|
TATACATA others(11): Show |
T | 1 | a0001c0001t0002g0032 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.3367+243_3367+260d others(20): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117612050 | ||||||
| chr7:117612051
|
A | G | 3 | a0001c0006t0003g0193a0001c0006t0003g0198a0001c0019t0003g0192 | 3 | HG02258.hp1 HG02559.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.3367+243A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117612051 | ||||||
| chr7:117612054
|
C | T | 81 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0020others(78): Show | 81 | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(78): Show |
intron_variant | MODIFIER | c.3367+246C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117612054 | ||||||
| chr7:117612128
|
C | G | 2 | a0001c0003t0003g0144a0001c0003t0003g0145 | 2 | HG00642.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.3367+320C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117612128 | ||||||
| chr7:117612142
|
G | A | 1 | a0001c0003t0003g0155 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.3367+334G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117612142 | ||||||
| chr7:117612234
|
T | TAC | 3 | a0002c0002t0001g0085a0002c0002t0001g0092a0002c0002t0001g0109 | 3 | HG02148.hp2 HG03669.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.3367+452_3367+453d others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612234 | |||||
| chr7:117612234
|
T | TACACAC | 12 | a0001c0001t0002g0195a0001c0001t0004g0009a0001c0001t0004g0018others(9): Show | 12 | HG02258.hp1 HG02559.hp1 HG02723.hp2 others(9): Show |
intron_variant | MODIFIER | c.3367+448_3367+453d others(8): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612234 | |||||
| chr7:117612234
|
T | TACACACA others(1): Show |
37 | a0001c0003t0003g0001a0001c0003t0003g0021a0001c0003t0003g0026others(34): Show | 38 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(35): Show |
intron_variant | MODIFIER | c.3367+446_3367+453d others(10): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612234 | |||||
| chr7:117612234
|
T | TACACACA others(3): Show |
7 | a0001c0001t0004g0182a0001c0003t0003g0183a0001c0005t0003g0194others(4): Show | 7 | HG02145.hp1 HG02145.hp2 HG02280.hp2 others(4): Show |
intron_variant | MODIFIER | c.3367+444_3367+453d others(12): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612234 | |||||
| chr7:117612234
|
T | TACACACA others(5): Show |
9 | a0001c0004t0002g0137a0001c0004t0002g0186a0001c0005t0003g0149others(6): Show | 9 | HG01074.hp1 HG01192.hp2 HG01346.hp1 others(6): Show |
intron_variant | MODIFIER | c.3367+442_3367+453d others(14): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612234 | |||||
| chr7:117612234
|
T | TACACACA others(7): Show |
1 | a0001c0005t0003g0150 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.3367+440_3367+453d others(16): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612234 | |||||
| chr7:117612234
|
T | TACACACA others(11): Show |
1 | a0001c0004t0002g0008 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.3367+436_3367+453d others(20): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612234 | |||||
| chr7:117612234
|
TACAC | T | 3 | a0001c0001t0005g0047a0001c0001t0005g0066a0010c0018t0005g0028 | 3 | HG00642.hp1 NA18992.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.3367+450_3367+453d others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117612234 | |||||
| chr7:117612354
|
C | T | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3367+546C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117612354 | ||||||
| chr7:117612713
|
A | G | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3367+905A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117612713 | ||||||
| chr7:117612737
|
A | G | 4 | a0001c0006t0006g0005a0001c0006t0006g0013a0001c0006t0006g0014others(1): Show | 4 | HG01346.hp1 HG02970.hp2 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.3367+929A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117612737 | ||||||
| chr7:117612820
|
G | A | 38 | a0001c0001t0002g0195a0001c0003t0003g0001a0001c0003t0003g0021others(35): Show | 39 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(36): Show |
intron_variant | MODIFIER | c.3367+1012G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117612820 | ||||||
| chr7:117612923
|
A | G | 1 | a0002c0002t0001g0200 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.3367+1115A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117612923 | ||||||
| chr7:117613309
|
CA | C | 2 | a0001c0001t0002g0065a0002c0002t0001g0107 | 2 | NA18978.hp1 NA18978.hp2 |
intron_variant | MODIFIER | c.3368-1302delA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117613309 | |||||
| chr7:117613481
|
T | C | 2 | a0001c0001t0002g0003a0001c0001t0002g0004 | 2 | HG01433.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.3368-1132T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117613481 | ||||||
| chr7:117613533
|
A | G | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.3368-1080A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117613533 | ||||||
| chr7:117613641
|
G | T | 3 | a0001c0006t0003g0193a0001c0006t0003g0198a0001c0019t0003g0192 | 3 | HG02258.hp1 HG02559.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.3368-972G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117613641 | ||||||
| chr7:117613997
|
A | ATG | 5 | a0001c0004t0002g0124a0001c0004t0002g0130a0001c0004t0002g0132others(2): Show | 5 | HG01074.hp1 HG01192.hp2 HG02896.hp1 others(2): Show |
intron_variant | MODIFIER | c.3368-615_3368-614i others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117613997 | |||||
| chr7:117613997
|
A | ATGT | 5 | a0001c0004t0002g0115a0001c0004t0002g0125a0001c0004t0002g0128others(2): Show | 5 | HG01433.hp1 HG02257.hp1 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.3368-615_3368-614i others(5): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117613997 | |||||
| chr7:117613999
|
C | CT | 36 | a0001c0001t0002g0003a0001c0001t0002g0042a0001c0001t0002g0043others(33): Show | 36 | HG00609.hp2 HG00642.hp1 HG01175.hp2 others(33): Show |
intron_variant | MODIFIER | c.3368-589dupT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117613999 | |||||
| chr7:117613999
|
C | CTT | 5 | a0001c0005t0003g0194a0001c0006t0006g0005a0002c0002t0001g0084others(2): Show | 5 | HG01346.hp1 HG02145.hp2 HG04204.hp1 others(2): Show |
intron_variant | MODIFIER | c.3368-590_3368-589d others(4): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117613999 | |||||
| chr7:117613999
|
C | T | 10 | a0001c0004t0002g0115a0001c0004t0002g0124a0001c0004t0002g0125others(7): Show | 10 | HG01074.hp1 HG01192.hp2 HG01433.hp1 others(7): Show |
intron_variant | MODIFIER | c.3368-614C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117613999 | ||||||
| chr7:117613999
|
CT | C | 9 | a0001c0001t0004g0072a0001c0001t0004g0126a0001c0004t0002g0008others(6): Show | 9 | HG00099.hp2 HG00140.hp2 HG02148.hp2 others(6): Show |
intron_variant | MODIFIER | c.3368-589delT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117613999 | |||||
| chr7:117613999
|
CTTTTTTT others(6): Show |
C | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.3368-601_3368-589d others(15): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | 117613999 | |||||
| chr7:117614244
|
C | G | 2 | a0001c0005t0003g0196a0001c0005t0003g0197 | 2 | HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.3368-369C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117614244 | ||||||
| chr7:117614269
|
T | C | 9 | a0001c0001t0004g0009a0001c0001t0004g0018a0001c0001t0004g0072others(6): Show | 9 | HG02723.hp2 HG02922.hp1 HG03130.hp2 others(6): Show |
intron_variant | MODIFIER | c.3368-344T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117614269 | ||||||
| chr7:117614473
|
A | C | 38 | a0001c0001t0002g0195a0001c0003t0003g0001a0001c0003t0003g0021others(35): Show | 39 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(36): Show |
intron_variant | MODIFIER | c.3368-140A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117614473 | ||||||
| chr7:117614524
|
G | C | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3368-89G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | chr7 | 117614524 | ||||||
| chr7:117614893
|
A | G | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.3468+180A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117614893 | ||||||
| chr7:117615020
|
A | G | 2 | a0001c0001t0002g0003a0001c0001t0002g0004 | 2 | HG01433.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.3468+307A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117615020 | ||||||
| chr7:117615216
|
G | A | 9 | a0001c0001t0004g0009a0001c0001t0004g0018a0001c0001t0004g0072others(6): Show | 9 | HG02723.hp2 HG02922.hp1 HG03130.hp2 others(6): Show |
intron_variant | MODIFIER | c.3468+503G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117615216 | ||||||
| chr7:117615519
|
C | G | 1 | a0001c0001t0002g0020 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.3468+806C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117615519 | ||||||
| chr7:117615592
|
A | G | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3468+879A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117615592 | ||||||
| chr7:117615598
|
T | C | 1 | a0002c0002t0001g0174 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.3468+885T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117615598 | ||||||
| chr7:117615626
|
G | A | 1 | a0002c0002t0001g0087 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.3468+913G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117615626 | ||||||
| chr7:117615648
|
G | T | 1 | a0001c0004t0002g0008 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.3468+935G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117615648 | ||||||
| chr7:117615701
|
C | G | 1 | a0002c0002t0001g0152 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.3468+988C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117615701 | ||||||
| chr7:117615803
|
A | G | 1 | a0001c0001t0002g0195 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.3468+1090A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117615803 | ||||||
| chr7:117615954
|
C | G | 4 | a0001c0006t0006g0005a0001c0006t0006g0013a0001c0006t0006g0014others(1): Show | 4 | HG01346.hp1 HG02970.hp2 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.3468+1241C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117615954 | ||||||
| chr7:117616235
|
C | CT | 198 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(195): Show | 199 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(196): Show |
intron_variant | MODIFIER | c.3468+1532dupT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr7 | 117616235 | |||||
| chr7:117616294
|
T | C | 9 | a0001c0001t0004g0009a0001c0001t0004g0018a0001c0001t0004g0072others(6): Show | 9 | HG02723.hp2 HG02922.hp1 HG03130.hp2 others(6): Show |
intron_variant | MODIFIER | c.3468+1581T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117616294 | ||||||
| chr7:117616320
|
C | T | 59 | a0001c0001t0002g0020a0001c0001t0002g0022a0001c0001t0002g0023others(56): Show | 59 | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(56): Show |
intron_variant | MODIFIER | c.3468+1607C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117616320 | ||||||
| chr7:117616508
|
C | T | 16 | a0001c0005t0003g0149a0001c0005t0003g0150a0001c0005t0003g0156others(13): Show | 16 | HG01346.hp1 HG02145.hp2 HG02258.hp1 others(13): Show |
intron_variant | MODIFIER | c.3468+1795C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117616508 | ||||||
| chr7:117616658
|
G | A | 13 | a0001c0003t0003g0001a0001c0003t0003g0116a0001c0003t0003g0134others(10): Show | 14 | HG00323.hp1 HG01070.hp1 HG01071.hp1 others(11): Show |
intron_variant | MODIFIER | c.3468+1945G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117616658 | ||||||
| chr7:117616704
|
T | C | 5 | a0001c0005t0003g0149a0001c0005t0003g0150a0001c0005t0003g0156others(2): Show | 5 | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.3468+1991T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117616704 | ||||||
| chr7:117616822
|
T | C | 11 | a0001c0004t0002g0115a0001c0004t0002g0124a0001c0004t0002g0125others(8): Show | 11 | HG01074.hp1 HG01192.hp2 HG01433.hp1 others(8): Show |
intron_variant | MODIFIER | c.3468+2109T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117616822 | ||||||
| chr7:117616848
|
A | T | 1 | a0001c0001t0002g0058 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.3468+2135A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117616848 | ||||||
| chr7:117616940
|
G | A | 1 | a0001c0001t0011g0049 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.3468+2227G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117616940 | ||||||
| chr7:117617255
|
T | C | 3 | a0001c0005t0003g0194a0001c0005t0003g0196a0001c0005t0003g0197 | 3 | HG02145.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.3468+2542T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117617255 | ||||||
| chr7:117617547
|
C | T | 5 | a0001c0005t0003g0149a0001c0005t0003g0150a0001c0005t0003g0156others(2): Show | 5 | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.3468+2834C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117617547 | ||||||
| chr7:117617619
|
A | G | 1 | a0001c0003t0003g0144 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.3468+2906A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117617619 | ||||||
| chr7:117617633
|
C | T | 46 | a0001c0001t0002g0020a0001c0001t0002g0022a0001c0001t0002g0023others(43): Show | 46 | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(43): Show |
intron_variant | MODIFIER | c.3468+2920C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117617633 | ||||||
| chr7:117618056
|
C | A | 1 | a0002c0002t0001g0174 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.3468+3343C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117618056 | ||||||
| chr7:117618212
|
A | G | 1 | a0002c0002t0001g0087 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.3468+3499A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117618212 | ||||||
| chr7:117618255
|
G | A | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.3468+3542G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117618255 | ||||||
| chr7:117618318
|
A | G | 118 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0020others(115): Show | 119 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(116): Show |
intron_variant | MODIFIER | c.3468+3605A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117618318 | ||||||
| chr7:117618475
|
G | A | 127 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0020others(124): Show | 128 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(125): Show |
intron_variant | MODIFIER | c.3468+3762G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117618475 | ||||||
| chr7:117618478
|
T | TCA | 49 | a0001c0001t0002g0063a0001c0001t0002g0195a0001c0001t0005g0025others(46): Show | 50 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(47): Show |
intron_variant | MODIFIER | c.3468+3792_3468+379 others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr7 | 117618478 | |||||
| chr7:117618478
|
T | TCACA | 3 | a0001c0001t0002g0042a0001c0003t0003g0048a0001c0003t0003g0134 | 3 | HG02683.hp1 HG04204.hp2 NA19010.hp1 |
intron_variant | MODIFIER | c.3468+3790_3468+379 others(8): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr7 | 117618478 | |||||
| chr7:117618901
|
A | G | 1 | a0002c0002t0001g0105 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.3468+4188A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117618901 | ||||||
| chr7:117618957
|
G | A | 125 | a0001c0001t0002g0020a0001c0001t0002g0022a0001c0001t0002g0023others(122): Show | 126 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(123): Show |
intron_variant | MODIFIER | c.3468+4244G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117618957 | ||||||
| chr7:117619143
|
T | C | 4 | a0001c0003t0003g0116a0001c0008t0003g0139a0001c0008t0010g0133others(1): Show | 4 | HG00323.hp1 HG01175.hp1 HG01943.hp2 others(1): Show |
intron_variant | MODIFIER | c.3468+4430T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117619143 | ||||||
| chr7:117619233
|
T | C | 1 | a0001c0005t0006g0038 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.3468+4520T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117619233 | ||||||
| chr7:117619286
|
A | G | 1 | a0001c0003t0003g0155 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.3468+4573A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117619286 | ||||||
| chr7:117619843
|
A | G | 1 | a0002c0020t0002g0079 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.3468+5130A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117619843 | ||||||
| chr7:117619892
|
C | T | 65 | a0001c0001t0002g0195a0001c0001t0004g0009a0001c0001t0004g0018others(62): Show | 66 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(63): Show |
intron_variant | MODIFIER | c.3468+5179C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117619892 | ||||||
| chr7:117619951
|
C | T | 2 | a0002c0002t0001g0188a0002c0002t0001g0189 | 2 | NA19065.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.3468+5238C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117619951 | ||||||
| chr7:117620074
|
AT | A | 122 | a0001c0001t0002g0020a0001c0001t0002g0022a0001c0001t0002g0023others(119): Show | 123 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(120): Show |
intron_variant | MODIFIER | c.3468+5372delT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr7 | 117620074 | |||||
| chr7:117620180
|
A | G | 1 | a0002c0002t0001g0102 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.3468+5467A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117620180 | ||||||
| chr7:117620249
|
A | G | 4 | a0001c0006t0006g0005a0001c0006t0006g0013a0001c0006t0006g0014others(1): Show | 4 | HG01346.hp1 HG02970.hp2 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.3468+5536A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117620249 | ||||||
| chr7:117620317
|
G | T | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3468+5604G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117620317 | ||||||
| chr7:117620408
|
C | T | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3468+5695C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117620408 | ||||||
| chr7:117620476
|
C | T | 1 | a0006c0010t0001g0170 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.3468+5763C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117620476 | ||||||
| chr7:117620492
|
C | A | 10 | a0001c0005t0003g0194a0001c0005t0003g0196a0001c0005t0003g0197others(7): Show | 10 | HG01346.hp1 HG02145.hp2 HG02258.hp1 others(7): Show |
intron_variant | MODIFIER | c.3468+5779C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117620492 | ||||||
| chr7:117620498
|
A | G | 2 | a0001c0001t0002g0044a0001c0001t0002g0045 | 2 | HG02027.hp2 NA18968.hp1 |
intron_variant | MODIFIER | c.3468+5785A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117620498 | ||||||
| chr7:117620666
|
C | A | 1 | a0001c0003t0003g0178 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.3468+5953C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117620666 | ||||||
| chr7:117620699
|
C | T | 1 | a0001c0005t0003g0149 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.3468+5986C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117620699 | ||||||
| chr7:117620770
|
G | T | 9 | a0001c0001t0004g0009a0001c0001t0004g0018a0001c0001t0004g0072others(6): Show | 9 | HG02723.hp2 HG02922.hp1 HG03130.hp2 others(6): Show |
intron_variant | MODIFIER | c.3468+6057G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117620770 | ||||||
| chr7:117620797
|
A | G | 1 | a0001c0004t0002g0008 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.3468+6084A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117620797 | ||||||
| chr7:117620834
|
C | T | 1 | a0002c0002t0001g0084 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.3468+6121C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117620834 | ||||||
| chr7:117620933
|
C | G | 2 | a0001c0004t0002g0137a0001c0004t0002g0186 | 2 | HG01074.hp1 HG01192.hp2 |
intron_variant | MODIFIER | c.3468+6220C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117620933 | ||||||
| chr7:117621034
|
G | A | 9 | a0001c0001t0004g0009a0001c0001t0004g0018a0001c0001t0004g0072others(6): Show | 9 | HG02723.hp2 HG02922.hp1 HG03130.hp2 others(6): Show |
intron_variant | MODIFIER | c.3468+6321G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117621034 | ||||||
| chr7:117621035
|
G | A | 9 | a0001c0001t0004g0009a0001c0001t0004g0018a0001c0001t0004g0072others(6): Show | 9 | HG02723.hp2 HG02922.hp1 HG03130.hp2 others(6): Show |
intron_variant | MODIFIER | c.3468+6322G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117621035 | ||||||
| chr7:117621096
|
A | G | 4 | a0001c0006t0006g0005a0001c0006t0006g0013a0001c0006t0006g0014others(1): Show | 4 | HG01346.hp1 HG02970.hp2 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.3468+6383A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117621096 | ||||||
| chr7:117621234
|
T | G | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3469-6288T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117621234 | ||||||
| chr7:117621239
|
C | T | 125 | a0001c0001t0002g0020a0001c0001t0002g0022a0001c0001t0002g0023others(122): Show | 126 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(123): Show |
intron_variant | MODIFIER | c.3469-6283C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117621239 | ||||||
| chr7:117621317
|
C | A | 4 | a0001c0006t0006g0005a0001c0006t0006g0013a0001c0006t0006g0014others(1): Show | 4 | HG01346.hp1 HG02970.hp2 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.3469-6205C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117621317 | ||||||
| chr7:117621368
|
A | G | 5 | a0001c0005t0003g0149a0001c0005t0003g0150a0001c0005t0003g0156others(2): Show | 5 | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.3469-6154A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117621368 | ||||||
| chr7:117621648
|
A | G | 1 | a0001c0001t0002g0195 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.3469-5874A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117621648 | ||||||
| chr7:117621664
|
G | C | 1 | a0001c0005t0003g0197 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.3469-5858G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117621664 | ||||||
| chr7:117622029
|
C | T | 9 | a0001c0001t0004g0009a0001c0001t0004g0018a0001c0001t0004g0072others(6): Show | 9 | HG02723.hp2 HG02922.hp1 HG03130.hp2 others(6): Show |
intron_variant | MODIFIER | c.3469-5493C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117622029 | ||||||
| chr7:117622197
|
C | T | 3 | a0001c0006t0003g0193a0001c0006t0003g0198a0001c0019t0003g0192 | 3 | HG02258.hp1 HG02559.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.3469-5325C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117622197 | ||||||
| chr7:117622250
|
G | A | 38 | a0001c0001t0002g0195a0001c0003t0003g0001a0001c0003t0003g0021others(35): Show | 39 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(36): Show |
intron_variant | MODIFIER | c.3469-5272G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117622250 | ||||||
| chr7:117622513
|
T | C | 3 | a0001c0005t0003g0194a0001c0005t0003g0196a0001c0005t0003g0197 | 3 | HG02145.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.3469-5009T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117622513 | ||||||
| chr7:117623363
|
G | C | 199 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(196): Show | 200 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(197): Show |
intron_variant | MODIFIER | c.3469-4159G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117623363 | ||||||
| chr7:117623620
|
C | T | 16 | a0001c0005t0003g0149a0001c0005t0003g0150a0001c0005t0003g0156others(13): Show | 16 | HG01346.hp1 HG02145.hp2 HG02258.hp1 others(13): Show |
intron_variant | MODIFIER | c.3469-3902C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117623620 | ||||||
| chr7:117624032
|
C | G | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3469-3490C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117624032 | ||||||
| chr7:117624072
|
T | C | 59 | a0001c0001t0002g0020a0001c0001t0002g0022a0001c0001t0002g0023others(56): Show | 59 | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(56): Show |
intron_variant | MODIFIER | c.3469-3450T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117624072 | ||||||
| chr7:117624325
|
G | A | 14 | a0001c0001t0002g0075a0001c0001t0002g0076a0001c0001t0002g0077others(11): Show | 14 | HG01243.hp2 HG01891.hp1 HG02109.hp2 others(11): Show |
intron_variant | MODIFIER | c.3469-3197G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117624325 | ||||||
| chr7:117624569
|
C | T | 1 | a0001c0001t0011g0049 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.3469-2953C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117624569 | ||||||
| chr7:117624812
|
G | A | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.3469-2710G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117624812 | ||||||
| chr7:117624964
|
C | G | 1 | a0002c0002t0001g0105 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.3469-2558C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117624964 | ||||||
| chr7:117625020
|
G | A | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3469-2502G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117625020 | ||||||
| chr7:117625201
|
T | C | 16 | a0001c0005t0003g0149a0001c0005t0003g0150a0001c0005t0003g0156others(13): Show | 16 | HG01346.hp1 HG02145.hp2 HG02258.hp1 others(13): Show |
intron_variant | MODIFIER | c.3469-2321T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117625201 | ||||||
| chr7:117625543
|
G | T | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3469-1979G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117625543 | ||||||
| chr7:117625916
|
C | T | 2 | a0001c0001t0004g0135a0001c0001t0004g0138 | 2 | HG02922.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.3469-1606C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117625916 | ||||||
| chr7:117625988
|
C | A | 1 | a0001c0008t0010g0133 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.3469-1534C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117625988 | ||||||
| chr7:117626148
|
A | C | 2 | a0001c0001t0002g0003a0001c0001t0002g0004 | 2 | HG01433.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.3469-1374A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117626148 | ||||||
| chr7:117626441
|
G | A | 4 | a0001c0006t0006g0005a0001c0006t0006g0013a0001c0006t0006g0014others(1): Show | 4 | HG01346.hp1 HG02970.hp2 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.3469-1081G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117626441 | ||||||
| chr7:117626455
|
G | T | 1 | a0004c0026t0002g0037 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.3469-1067G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117626455 | ||||||
| chr7:117626618
|
C | T | 1 | a0001c0003t0003g0116 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.3469-904C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117626618 | ||||||
| chr7:117626787
|
T | A | 2 | a0001c0001t0002g0195a0005c0009t0001g0153 | 2 | HG02965.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.3469-735T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117626787 | ||||||
| chr7:117626788
|
A | T | 3 | a0001c0001t0002g0058a0001c0003t0003g0114a0001c0003t0003g0183 | 3 | HG02145.hp1 HG02723.hp1 HG03688.hp2 |
intron_variant | MODIFIER | c.3469-734A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117626788 | ||||||
| chr7:117627185
|
G | A | 10 | a0001c0005t0003g0194a0001c0005t0003g0196a0001c0005t0003g0197others(7): Show | 10 | HG01346.hp1 HG02145.hp2 HG02258.hp1 others(7): Show |
intron_variant | MODIFIER | c.3469-337G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117627185 | ||||||
| chr7:117627457
|
C | A | 37 | a0001c0003t0003g0001a0001c0003t0003g0021a0001c0003t0003g0026others(34): Show | 38 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(35): Show |
intron_variant | MODIFIER | c.3469-65C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117627457 | ||||||
| chr7:117627502
|
T | C | 1 | a0001c0001t0002g0032 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.3469-20T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 21/26 | chr7 | 117627502 | ||||||
| chr7:117627958
|
A | G | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.3717+188A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117627958 | ||||||
| chr7:117628142
|
A | G | 1 | a0005c0009t0001g0154 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.3717+372A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117628142 | ||||||
| chr7:117628536
|
G | T | 4 | a0001c0005t0003g0149a0001c0005t0003g0156a0001c0006t0003g0015others(1): Show | 4 | HG02683.hp2 HG02818.hp2 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.3717+766G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117628536 | ||||||
| chr7:117628981
|
A | C | 1 | a0001c0004t0002g0008 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.3717+1211A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117628981 | ||||||
| chr7:117629266
|
G | A | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.3717+1496G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117629266 | ||||||
| chr7:117629652
|
G | A | 2 | a0001c0004t0002g0137a0001c0004t0002g0186 | 2 | HG01074.hp1 HG01192.hp2 |
intron_variant | MODIFIER | c.3717+1882G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117629652 | ||||||
| chr7:117629741
|
T | A | 5 | a0001c0005t0003g0149a0001c0005t0003g0150a0001c0005t0003g0156others(2): Show | 5 | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.3717+1971T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117629741 | ||||||
| chr7:117629855
|
C | A | 5 | a0001c0005t0003g0149a0001c0005t0003g0150a0001c0005t0003g0156others(2): Show | 5 | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.3717+2085C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117629855 | ||||||
| chr7:117630127
|
C | A | 5 | a0001c0005t0003g0149a0001c0005t0003g0150a0001c0005t0003g0156others(2): Show | 5 | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.3717+2357C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117630127 | ||||||
| chr7:117630518
|
A | G | 5 | a0001c0005t0003g0149a0001c0005t0003g0150a0001c0005t0003g0156others(2): Show | 5 | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.3717+2748A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117630518 | ||||||
| chr7:117630692
|
T | C | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.3717+2922T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117630692 | ||||||
| chr7:117630788
|
C | A | 5 | a0001c0005t0003g0149a0001c0005t0003g0150a0001c0005t0003g0156others(2): Show | 5 | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.3717+3018C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117630788 | ||||||
| chr7:117631303
|
C | T | 1 | a0001c0001t0002g0151 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.3717+3533C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117631303 | ||||||
| chr7:117631576
|
C | G | 4 | a0001c0001t0002g0029a0001c0001t0002g0051a0001c0001t0002g0054others(1): Show | 4 | HG02148.hp1 NA18947.hp2 NA19065.hp2 others(1): Show |
intron_variant | MODIFIER | c.3717+3806C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117631576 | ||||||
| chr7:117631657
|
A | G | 1 | a0001c0001t0002g0050 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.3717+3887A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117631657 | ||||||
| chr7:117632125
|
C | G | 3 | a0001c0006t0003g0193a0001c0006t0003g0198a0001c0019t0003g0192 | 3 | HG02258.hp1 HG02559.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.3717+4355C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117632125 | ||||||
| chr7:117632155
|
G | C | 1 | a0001c0003t0003g0145 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.3717+4385G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117632155 | ||||||
| chr7:117632310
|
A | C | 2 | a0001c0001t0002g0195a0002c0020t0002g0079 | 2 | HG02630.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.3717+4540A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117632310 | ||||||
| chr7:117632506
|
C | T | 2 | a0003c0007t0001g0166a0003c0007t0001g0167 | 2 | NA18947.hp1 NA19070.hp2 |
intron_variant | MODIFIER | c.3717+4736C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117632506 | ||||||
| chr7:117633267
|
G | A | 5 | a0001c0005t0006g0038a0001c0006t0006g0005a0001c0006t0006g0013others(2): Show | 5 | HG01346.hp1 HG02970.hp2 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.3717+5497G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117633267 | ||||||
| chr7:117633349
|
G | A | 18 | a0001c0004t0003g0191a0001c0005t0003g0149a0001c0005t0003g0150others(15): Show | 18 | HG01346.hp1 HG01496.hp1 HG02145.hp2 others(15): Show |
intron_variant | MODIFIER | c.3717+5579G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117633349 | ||||||
| chr7:117633358
|
A | G | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3717+5588A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117633358 | ||||||
| chr7:117633750
|
T | C | 1 | a0001c0006t0006g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.3717+5980T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117633750 | ||||||
| chr7:117633892
|
C | T | 2 | a0001c0001t0001g0068a0014c0025t0001g0172 | 2 | HG02056.hp1 HG02056.hp2 |
intron_variant | MODIFIER | c.3717+6122C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117633892 | ||||||
| chr7:117633916
|
T | G | 5 | a0001c0005t0006g0038a0001c0006t0006g0005a0001c0006t0006g0013others(2): Show | 5 | HG01346.hp1 HG02970.hp2 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.3717+6146T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117633916 | ||||||
| chr7:117633944
|
T | C | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.3717+6174T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117633944 | ||||||
| chr7:117634202
|
G | A | 25 | a0001c0003t0003g0001a0001c0003t0003g0021a0001c0003t0003g0026others(22): Show | 26 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(23): Show |
intron_variant | MODIFIER | c.3717+6432G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117634202 | ||||||
| chr7:117634227
|
G | A | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.3717+6457G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117634227 | ||||||
| chr7:117634265
|
C | T | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3717+6495C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117634265 | ||||||
| chr7:117634414
|
G | A | 8 | a0001c0001t0002g0020a0001c0001t0002g0022a0001c0001t0002g0024others(5): Show | 8 | HG00609.hp2 HG03669.hp2 HG04199.hp2 others(5): Show |
intron_variant | MODIFIER | c.3717+6644G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117634414 | ||||||
| chr7:117634547
|
G | A | 1 | a0001c0001t0002g0195 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.3717+6777G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117634547 | ||||||
| chr7:117634995
|
T | C | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.3717+7225T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117634995 | ||||||
| chr7:117635051
|
T | C | 2 | a0001c0001t0002g0120a0001c0001t0002g0179 | 2 | HG02451.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.3717+7281T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117635051 | ||||||
| chr7:117635334
|
A | T | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.3718-7104A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117635334 | ||||||
| chr7:117635448
|
A | T | 3 | a0002c0002t0001g0095a0002c0002t0001g0096a0002c0002t0001g0164 | 3 | NA18966.hp1 NA19060.hp1 NA19091.hp2 |
intron_variant | MODIFIER | c.3718-6990A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117635448 | ||||||
| chr7:117635869
|
A | C | 1 | a0001c0004t0002g0008 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.3718-6569A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117635869 | ||||||
| chr7:117635898
|
A | C | 5 | a0001c0005t0006g0038a0001c0006t0006g0005a0001c0006t0006g0013others(2): Show | 5 | HG01346.hp1 HG02970.hp2 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.3718-6540A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117635898 | ||||||
| chr7:117635995
|
G | A | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.3718-6443G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117635995 | ||||||
| chr7:117636017
|
T | C | 5 | a0001c0005t0003g0149a0001c0005t0003g0150a0001c0005t0003g0156others(2): Show | 5 | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.3718-6421T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117636017 | ||||||
| chr7:117636084
|
C | T | 1 | a0001c0001t0002g0042 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.3718-6354C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117636084 | ||||||
| chr7:117636114
|
T | C | 5 | a0001c0005t0003g0149a0001c0005t0003g0150a0001c0005t0003g0156others(2): Show | 5 | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.3718-6324T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117636114 | ||||||
| chr7:117636164
|
C | G | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.3718-6274C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117636164 | ||||||
| chr7:117636348
|
C | T | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3718-6090C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117636348 | ||||||
| chr7:117636491
|
T | G | 1 | a0001c0004t0002g0008 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.3718-5947T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117636491 | ||||||
| chr7:117636554
|
G | T | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.3718-5884G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117636554 | ||||||
| chr7:117636848
|
C | T | 1 | a0002c0002t0001g0105 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.3718-5590C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117636848 | ||||||
| chr7:117636910
|
T | TGGGTTCA others(24): Show |
2 | a0001c0001t0002g0003a0001c0001t0002g0004 | 2 | HG01433.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.3718-5527_3718-549 others(35): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr7 | 117636910 | |||||
| chr7:117636957
|
C | T | 1 | a0001c0001t0005g0059 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.3718-5481C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117636957 | ||||||
| chr7:117637222
|
G | GT | 102 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0020others(99): Show | 103 | HG00140.hp1 HG00323.hp1 HG00609.hp2 others(100): Show |
intron_variant | MODIFIER | c.3718-5203dupT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr7 | 117637222 | |||||
| chr7:117637222
|
G | GTT | 19 | a0001c0001t0002g0179a0001c0001t0004g0009a0001c0001t0004g0018others(16): Show | 19 | HG01346.hp1 HG01891.hp2 HG02145.hp2 others(16): Show |
intron_variant | MODIFIER | c.3718-5204_3718-520 others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr7 | 117637222 | |||||
| chr7:117637336
|
G | A | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.3718-5102G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117637336 | ||||||
| chr7:117637569
|
A | G | 17 | a0001c0005t0003g0149a0001c0005t0003g0150a0001c0005t0003g0156others(14): Show | 17 | HG01346.hp1 HG02145.hp2 HG02258.hp1 others(14): Show |
intron_variant | MODIFIER | c.3718-4869A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117637569 | ||||||
| chr7:117637674
|
C | T | 1 | a0001c0001t0002g0067 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.3718-4764C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117637674 | ||||||
| chr7:117637872
|
G | A | 25 | a0001c0003t0003g0001a0001c0003t0003g0021a0001c0003t0003g0026others(22): Show | 26 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(23): Show |
intron_variant | MODIFIER | c.3718-4566G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117637872 | ||||||
| chr7:117638463
|
G | A | 1 | a0002c0002t0001g0080 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.3718-3975G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117638463 | ||||||
| chr7:117638474
|
G | A | 1 | a0001c0005t0003g0150 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.3718-3964G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117638474 | ||||||
| chr7:117638511
|
G | A | 11 | a0001c0005t0003g0194a0001c0005t0003g0196a0001c0005t0003g0197others(8): Show | 11 | HG01346.hp1 HG02145.hp2 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.3718-3927G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117638511 | ||||||
| chr7:117638693
|
G | A | 2 | a0001c0003t0003g0021a0001c0003t0003g0040 | 2 | HG02040.hp2 NA18966.hp2 |
intron_variant | MODIFIER | c.3718-3745G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117638693 | ||||||
| chr7:117638711
|
G | A | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3718-3727G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117638711 | ||||||
| chr7:117638736
|
C | CATAA | 28 | a0001c0001t0002g0050a0001c0001t0002g0062a0001c0001t0002g0120others(25): Show | 29 | HG00323.hp1 HG00642.hp2 HG01123.hp1 others(26): Show |
intron_variant | MODIFIER | c.3718-3673_3718-367 others(8): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr7 | 117638736 | |||||
| chr7:117638736
|
C | CATAAATA others(1): Show |
5 | a0001c0001t0002g0195a0001c0003t0003g0180a0001c0003t0003g0181others(2): Show | 5 | HG01070.hp1 HG01071.hp1 HG02145.hp1 others(2): Show |
intron_variant | MODIFIER | c.3718-3677_3718-367 others(12): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr7 | 117638736 | |||||
| chr7:117638736
|
C | CATAAATA others(5): Show |
12 | a0001c0003t0003g0145a0001c0004t0003g0191a0001c0005t0003g0149others(9): Show | 12 | HG01496.hp1 HG02145.hp2 HG02258.hp1 others(9): Show |
intron_variant | MODIFIER | c.3718-3681_3718-367 others(16): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr7 | 117638736 | |||||
| chr7:117638736
|
CATAA | C | 6 | a0001c0004t0002g0002a0001c0005t0006g0038a0001c0006t0006g0005others(3): Show | 6 | HG01346.hp1 HG01891.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.3718-3673_3718-367 others(8): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr7 | 117638736 | |||||
| chr7:117638767
|
AAT | A | 9 | a0001c0004t0002g0115a0001c0004t0002g0124a0001c0004t0002g0125others(6): Show | 9 | HG01074.hp1 HG01192.hp2 HG01433.hp1 others(6): Show |
intron_variant | MODIFIER | c.3718-3669_3718-366 others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr7 | 117638767 | |||||
| chr7:117638772
|
A | T | 9 | a0001c0004t0002g0115a0001c0004t0002g0124a0001c0004t0002g0125others(6): Show | 9 | HG01074.hp1 HG01192.hp2 HG01433.hp1 others(6): Show |
intron_variant | MODIFIER | c.3718-3666A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117638772 | ||||||
| chr7:117638780
|
A | AT | 10 | a0001c0004t0002g0115a0001c0004t0002g0124a0001c0004t0002g0125others(7): Show | 10 | HG01074.hp1 HG01192.hp2 HG01433.hp1 others(7): Show |
intron_variant | MODIFIER | c.3718-3658_3718-365 others(5): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117638780 | ||||||
| chr7:117638783
|
T | A | 10 | a0001c0004t0002g0115a0001c0004t0002g0124a0001c0004t0002g0125others(7): Show | 10 | HG01074.hp1 HG01192.hp2 HG01433.hp1 others(7): Show |
intron_variant | MODIFIER | c.3718-3655T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117638783 | ||||||
| chr7:117639001
|
G | C | 1 | a0001c0003t0003g0144 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.3718-3437G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117639001 | ||||||
| chr7:117639093
|
G | A | 11 | a0001c0005t0003g0194a0001c0005t0003g0196a0001c0005t0003g0197others(8): Show | 11 | HG01346.hp1 HG02145.hp2 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.3718-3345G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117639093 | ||||||
| chr7:117639346
|
A | T | 1 | a0001c0003t0003g0187 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.3718-3092A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117639346 | ||||||
| chr7:117639451
|
T | G | 1 | a0002c0002t0001g0090 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.3718-2987T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117639451 | ||||||
| chr7:117639672
|
T | C | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3718-2766T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117639672 | ||||||
| chr7:117639676
|
A | T | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3718-2762A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117639676 | ||||||
| chr7:117639908
|
A | G | 2 | a0001c0004t0002g0137a0001c0004t0002g0186 | 2 | HG01074.hp1 HG01192.hp2 |
intron_variant | MODIFIER | c.3718-2530A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117639908 | ||||||
| chr7:117639933
|
T | C | 1 | a0001c0006t0006g0005 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.3718-2505T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117639933 | ||||||
| chr7:117640115
|
A | C | 1 | a0001c0001t0002g0032 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.3718-2323A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117640115 | ||||||
| chr7:117640459
|
A | T | 1 | a0001c0001t0002g0071 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.3718-1979A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117640459 | ||||||
| chr7:117640511
|
C | T | 3 | a0001c0003t0003g0141a0001c0003t0003g0187a0001c0003t0003g0190 | 3 | HG02451.hp1 HG02647.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.3718-1927C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117640511 | ||||||
| chr7:117640535
|
C | T | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3718-1903C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117640535 | ||||||
| chr7:117640539
|
C | G | 5 | a0001c0005t0003g0149a0001c0005t0003g0150a0001c0005t0003g0156others(2): Show | 5 | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.3718-1899C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117640539 | ||||||
| chr7:117640762
|
G | C | 12 | a0001c0005t0003g0194a0001c0005t0003g0196a0001c0005t0003g0197others(9): Show | 12 | HG01346.hp1 HG02145.hp2 HG02258.hp1 others(9): Show |
intron_variant | MODIFIER | c.3718-1676G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117640762 | ||||||
| chr7:117640836
|
C | A | 3 | a0002c0002t0001g0097a0002c0002t0001g0101a0002c0002t0001g0157 | 3 | NA18968.hp2 NA18982.hp2 NA19010.hp2 |
intron_variant | MODIFIER | c.3718-1602C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117640836 | ||||||
| chr7:117640877
|
C | G | 5 | a0001c0005t0006g0038a0001c0006t0006g0005a0001c0006t0006g0013others(2): Show | 5 | HG01346.hp1 HG02970.hp2 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.3718-1561C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117640877 | ||||||
| chr7:117641122
|
TGAAAATC others(3): Show |
T | 2 | a0001c0001t0002g0023a0016c0028t0002g0031 | 2 | HG02523.hp1 NA18960.hp1 |
intron_variant | MODIFIER | c.3718-1315_3718-130 others(14): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117641122 | ||||||
| chr7:117641178
|
G | A | 5 | a0001c0005t0003g0149a0001c0005t0003g0150a0001c0005t0003g0156others(2): Show | 5 | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.3718-1260G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117641178 | ||||||
| chr7:117641260
|
T | C | 5 | a0001c0005t0003g0149a0001c0005t0003g0150a0001c0005t0003g0156others(2): Show | 5 | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.3718-1178T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117641260 | ||||||
| chr7:117641321
|
A | G | 1 | a0001c0005t0003g0150 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.3718-1117A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117641321 | ||||||
| chr7:117642067
|
G | A | 1 | a0001c0005t0003g0150 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.3718-371G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117642067 | ||||||
| chr7:117642365
|
T | C | 1 | a0001c0001t0004g0182 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.3718-73T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117642365 | ||||||
| chr7:117642369
|
A | T | 1 | a0001c0004t0002g0140 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.3718-69A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117642369 | ||||||
| chr7:117642397
|
C | G | 1 | a0001c0001t0002g0032 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.3718-41C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117642397 | ||||||
| chr7:117642414
|
G | A | 1 | a0002c0002t0001g0109 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.3718-24G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | chr7 | 117642414 | ||||||
| chr7:117642677
|
A | G | 1 | a0001c0006t0003g0193 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.3873+84A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117642677 | ||||||
| chr7:117642710
|
T | G | 12 | a0001c0005t0003g0194a0001c0005t0003g0196a0001c0005t0003g0197others(9): Show | 12 | HG01346.hp1 HG02145.hp2 HG02258.hp1 others(9): Show |
intron_variant | MODIFIER | c.3873+117T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117642710 | ||||||
| chr7:117642793
|
A | G | 5 | a0001c0001t0001g0056a0002c0002t0001g0080a0002c0002t0001g0093others(2): Show | 5 | HG01123.hp2 HG01943.hp1 HG02523.hp2 others(2): Show |
intron_variant | MODIFIER | c.3873+200A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117642793 | ||||||
| chr7:117643205
|
A | G | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.3873+612A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117643205 | ||||||
| chr7:117643380
|
A | G | 1 | a0001c0005t0003g0194 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.3873+787A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117643380 | ||||||
| chr7:117643436
|
G | A | 1 | a0001c0001t0002g0043 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.3873+843G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117643436 | ||||||
| chr7:117643785
|
T | C | 5 | a0001c0005t0003g0149a0001c0005t0003g0150a0001c0005t0003g0156others(2): Show | 5 | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.3873+1192T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117643785 | ||||||
| chr7:117643957
|
C | T | 1 | a0001c0004t0002g0008 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.3873+1364C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117643957 | ||||||
| chr7:117644060
|
C | CT | 10 | a0001c0001t0004g0009a0001c0001t0004g0018a0001c0001t0004g0072others(7): Show | 10 | HG02723.hp2 HG02738.hp1 HG02922.hp1 others(7): Show |
intron_variant | MODIFIER | c.3873+1477dupT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr7 | 117644060 | |||||
| chr7:117644157
|
C | A | 5 | a0001c0005t0003g0149a0001c0005t0003g0150a0001c0005t0003g0156others(2): Show | 5 | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.3873+1564C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117644157 | ||||||
| chr7:117644188
|
A | T | 10 | a0001c0001t0002g0075a0001c0001t0002g0076a0001c0001t0002g0077others(7): Show | 10 | HG01891.hp1 HG02109.hp2 HG02258.hp2 others(7): Show |
intron_variant | MODIFIER | c.3873+1595A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117644188 | ||||||
| chr7:117644262
|
T | A | 3 | a0001c0006t0003g0193a0001c0006t0003g0198a0001c0019t0003g0192 | 3 | HG02258.hp1 HG02559.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.3873+1669T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117644262 | ||||||
| chr7:117644420
|
G | GA | 8 | a0001c0001t0004g0018a0001c0001t0004g0072a0001c0001t0004g0118others(5): Show | 8 | HG02723.hp2 HG02922.hp1 HG03130.hp2 others(5): Show |
intron_variant | MODIFIER | c.3873+1837dupA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr7 | 117644420 | |||||
| chr7:117644429
|
A | G | 1 | a0002c0002t0001g0105 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.3873+1836A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117644429 | ||||||
| chr7:117644479
|
T | C | 17 | a0001c0005t0003g0149a0001c0005t0003g0150a0001c0005t0003g0156others(14): Show | 17 | HG01346.hp1 HG02145.hp2 HG02258.hp1 others(14): Show |
intron_variant | MODIFIER | c.3873+1886T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117644479 | ||||||
| chr7:117644578
|
G | T | 1 | a0001c0003t0003g0113 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.3873+1985G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117644578 | ||||||
| chr7:117644785
|
A | G | 2 | a0001c0003t0003g0021a0001c0003t0003g0040 | 2 | HG02040.hp2 NA18966.hp2 |
intron_variant | MODIFIER | c.3873+2192A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117644785 | ||||||
| chr7:117644818
|
T | C | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.3873+2225T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117644818 | ||||||
| chr7:117644819
|
G | A | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.3873+2226G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117644819 | ||||||
| chr7:117645016
|
G | A | 5 | a0001c0005t0006g0038a0001c0006t0006g0005a0001c0006t0006g0013others(2): Show | 5 | HG01346.hp1 HG02970.hp2 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.3873+2423G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117645016 | ||||||
| chr7:117645117
|
G | A | 1 | a0002c0002t0001g0082 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.3873+2524G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117645117 | ||||||
| chr7:117645180
|
A | G | 3 | a0001c0006t0003g0193a0001c0006t0003g0198a0001c0019t0003g0192 | 3 | HG02258.hp1 HG02559.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.3873+2587A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117645180 | ||||||
| chr7:117645225
|
C | T | 1 | a0001c0001t0002g0058 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.3873+2632C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117645225 | ||||||
| chr7:117645297
|
A | G | 17 | a0001c0005t0003g0149a0001c0005t0003g0150a0001c0005t0003g0156others(14): Show | 17 | HG01346.hp1 HG02145.hp2 HG02258.hp1 others(14): Show |
intron_variant | MODIFIER | c.3873+2704A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117645297 | ||||||
| chr7:117645480
|
A | G | 3 | a0001c0005t0003g0194a0001c0005t0003g0196a0001c0005t0003g0197 | 3 | HG02145.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.3873+2887A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117645480 | ||||||
| chr7:117645521
|
CCAAGCCC others(13): Show |
C | 1 | a0001c0004t0001g0010 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.3873+2930_3873+294 others(24): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr7 | 117645521 | |||||
| chr7:117645530
|
G | A | 1 | a0001c0001t0001g0056 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.3873+2937G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117645530 | ||||||
| chr7:117645839
|
T | TAAGAAAG others(303): Show |
1 | a0001c0005t0003g0150 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.3873+3255_3873+325 others(314): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr7 | 117645839 | |||||
| chr7:117645994
|
G | A | 1 | a0001c0001t0002g0121 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.3873+3401G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117645994 | ||||||
| chr7:117646153
|
C | A | 1 | a0001c0003t0003g0187 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.3873+3560C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117646153 | ||||||
| chr7:117646470
|
G | A | 125 | a0001c0001t0002g0020a0001c0001t0002g0022a0001c0001t0002g0023others(122): Show | 126 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(123): Show |
intron_variant | MODIFIER | c.3873+3877G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117646470 | ||||||
| chr7:117647124
|
A | T | 12 | a0001c0005t0003g0194a0001c0005t0003g0196a0001c0005t0003g0197others(9): Show | 12 | HG01346.hp1 HG02145.hp2 HG02258.hp1 others(9): Show |
intron_variant | MODIFIER | c.3873+4531A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117647124 | ||||||
| chr7:117647423
|
T | C | 199 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(196): Show | 200 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(197): Show |
intron_variant | MODIFIER | c.3873+4830T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117647423 | ||||||
| chr7:117647444
|
G | T | 2 | a0001c0001t0002g0176a0001c0001t0002g0177 | 2 | HG01243.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.3873+4851G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117647444 | ||||||
| chr7:117647568
|
C | T | 5 | a0001c0005t0006g0038a0001c0006t0006g0005a0001c0006t0006g0013others(2): Show | 5 | HG01346.hp1 HG02970.hp2 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.3873+4975C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117647568 | ||||||
| chr7:117647580
|
A | T | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3873+4987A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117647580 | ||||||
| chr7:117647601
|
G | A | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3873+5008G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117647601 | ||||||
| chr7:117647679
|
CA | C | 121 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0020others(118): Show | 122 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(119): Show |
intron_variant | MODIFIER | c.3873+5101delA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr7 | 117647679 | |||||
| chr7:117647694
|
A | T | 4 | a0001c0005t0003g0149a0001c0005t0003g0150a0001c0006t0003g0015others(1): Show | 4 | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.3873+5101A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117647694 | ||||||
| chr7:117647864
|
G | A | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.3874-4978G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117647864 | ||||||
| chr7:117648003
|
A | AGT | 5 | a0001c0001t0002g0179a0001c0004t0003g0191a0001c0006t0003g0193others(2): Show | 5 | HG01496.hp1 HG02258.hp1 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.3874-4818_3874-481 others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr7 | 117648003 | |||||
| chr7:117648024
|
G | A | 27 | a0001c0003t0003g0001a0001c0003t0003g0021a0001c0003t0003g0026others(24): Show | 28 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(25): Show |
intron_variant | MODIFIER | c.3874-4818G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117648024 | ||||||
| chr7:117648026
|
A | G | 5 | a0001c0005t0006g0038a0001c0006t0006g0005a0001c0006t0006g0013others(2): Show | 5 | HG01346.hp1 HG02970.hp2 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.3874-4816A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117648026 | ||||||
| chr7:117648060
|
T | A | 11 | a0001c0005t0003g0194a0001c0005t0003g0196a0001c0005t0003g0197others(8): Show | 11 | HG01346.hp1 HG02145.hp2 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.3874-4782T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117648060 | ||||||
| chr7:117648069
|
G | GTA | 59 | a0001c0001t0002g0020a0001c0001t0002g0022a0001c0001t0002g0023others(56): Show | 59 | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(56): Show |
intron_variant | MODIFIER | c.3874-4761_3874-476 others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr7 | 117648069 | |||||
| chr7:117648126
|
C | G | 3 | a0001c0005t0003g0194a0001c0005t0003g0196a0001c0005t0003g0197 | 3 | HG02145.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.3874-4716C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117648126 | ||||||
| chr7:117648254
|
G | C | 3 | a0001c0005t0003g0194a0001c0005t0003g0196a0001c0005t0003g0197 | 3 | HG02145.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.3874-4588G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117648254 | ||||||
| chr7:117648702
|
A | T | 2 | a0001c0001t0002g0195a0002c0020t0002g0079 | 2 | HG02630.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.3874-4140A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117648702 | ||||||
| chr7:117648996
|
C | T | 1 | a0001c0004t0002g0002 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.3874-3846C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117648996 | ||||||
| chr7:117649037
|
T | C | 1 | a0001c0001t0002g0030 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.3874-3805T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649037 | ||||||
| chr7:117649277
|
G | GGT | 5 | a0001c0001t0002g0065a0001c0003t0003g0180a0001c0003t0003g0181others(2): Show | 5 | HG01070.hp1 HG01071.hp1 HG01496.hp1 others(2): Show |
intron_variant | MODIFIER | c.3874-3565_3874-356 others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649277 | ||||||
| chr7:117649277
|
GAT | G | 12 | a0001c0005t0003g0194a0001c0005t0003g0196a0001c0005t0003g0197others(9): Show | 12 | HG01346.hp1 HG02145.hp2 HG02258.hp1 others(9): Show |
intron_variant | MODIFIER | c.3874-3564_3874-356 others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649277 | ||||||
| chr7:117649277
|
GATGT | G | 6 | a0001c0001t0004g0009a0001c0004t0002g0140a0001c0005t0003g0149others(3): Show | 6 | HG02683.hp2 HG02818.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.3874-3564_3874-356 others(8): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649277 | ||||||
| chr7:117649278
|
A | G | 109 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0020others(106): Show | 110 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(107): Show |
intron_variant | MODIFIER | c.3874-3564A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649278 | ||||||
| chr7:117649304
|
A | G | 1 | a0002c0002t0001g0158 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.3874-3538A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649304 | ||||||
| chr7:117649316
|
G | A | 1 | a0001c0004t0002g0008 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.3874-3526G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649316 | ||||||
| chr7:117649362
|
A | G | 1 | a0002c0002t0001g0171 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.3874-3480A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649362 | ||||||
| chr7:117649485
|
G | T | 126 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0020others(123): Show | 127 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(124): Show |
intron_variant | MODIFIER | c.3874-3357G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649485 | ||||||
| chr7:117649486
|
T | A | 126 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0020others(123): Show | 127 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(124): Show |
intron_variant | MODIFIER | c.3874-3356T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649486 | ||||||
| chr7:117649495
|
GTGTA | G | 10 | a0001c0005t0003g0194a0001c0005t0003g0196a0001c0005t0003g0197others(7): Show | 10 | HG02145.hp2 HG02258.hp1 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.3874-3345_3874-334 others(8): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr7 | 117649495 | |||||
| chr7:117649497
|
G | A | 1 | a0002c0023t0006g0173 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.3874-3345G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649497 | ||||||
| chr7:117649497
|
G | GTA | 3 | a0002c0002t0001g0073a0002c0002t0001g0099a0002c0002t0001g0111 | 3 | HG01192.hp1 HG02165.hp1 NA18970.hp1 |
intron_variant | MODIFIER | c.3874-3323_3874-332 others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr7 | 117649497 | |||||
| chr7:117649497
|
GTA | G | 12 | a0001c0003t0003g0134a0001c0004t0001g0006a0001c0004t0001g0007others(9): Show | 12 | HG01071.hp2 HG01074.hp2 HG01516.hp2 others(9): Show |
intron_variant | MODIFIER | c.3874-3323_3874-332 others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr7 | 117649497 | |||||
| chr7:117649497
|
GTATA | G | 57 | a0001c0001t0002g0020a0001c0001t0002g0022a0001c0001t0002g0023others(54): Show | 57 | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(54): Show |
intron_variant | MODIFIER | c.3874-3325_3874-332 others(8): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr7 | 117649497 | |||||
| chr7:117649499
|
A | G | 13 | a0001c0001t0004g0018a0001c0001t0004g0072a0001c0001t0004g0118others(10): Show | 13 | HG02280.hp2 HG02683.hp2 HG02723.hp2 others(10): Show |
intron_variant | MODIFIER | c.3874-3343A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649499 | ||||||
| chr7:117649501
|
A | G | 2 | a0001c0005t0003g0149a0001c0005t0003g0150 | 2 | HG02886.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.3874-3341A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649501 | ||||||
| chr7:117649514
|
TA | T | 4 | a0001c0001t0002g0195a0001c0001t0004g0009a0002c0020t0002g0079others(1): Show | 4 | HG02630.hp1 HG06807.hp2 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.3874-3327delA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649514 | ||||||
| chr7:117649515
|
A | T | 15 | a0001c0004t0002g0115a0001c0004t0002g0124a0001c0004t0002g0125others(12): Show | 15 | HG01074.hp1 HG01192.hp2 HG01433.hp1 others(12): Show |
intron_variant | MODIFIER | c.3874-3327A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649515 | ||||||
| chr7:117649516
|
TA | T | 27 | a0001c0001t0002g0003a0001c0001t0002g0058a0001c0001t0004g0072others(24): Show | 28 | HG00323.hp1 HG01070.hp1 HG01071.hp1 others(25): Show |
intron_variant | MODIFIER | c.3874-3325delA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649516 | ||||||
| chr7:117649517
|
A | T | 36 | a0001c0001t0002g0045a0001c0001t0002g0063a0001c0001t0002g0123others(33): Show | 36 | HG01074.hp1 HG01192.hp2 HG01346.hp1 others(33): Show |
intron_variant | MODIFIER | c.3874-3325A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649517 | ||||||
| chr7:117649518
|
TA | T | 4 | a0001c0001t0002g0004a0001c0003t0003g0178a0001c0004t0002g0008others(1): Show | 4 | HG01123.hp1 HG02280.hp1 HG02630.hp2 others(1): Show |
intron_variant | MODIFIER | c.3874-3323delA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649518 | ||||||
| chr7:117649519
|
A | T | 137 | a0001c0001t0002g0003a0001c0001t0002g0020a0001c0001t0002g0022others(134): Show | 138 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(135): Show |
intron_variant | MODIFIER | c.3874-3323A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649519 | ||||||
| chr7:117649620
|
G | T | 59 | a0001c0001t0002g0020a0001c0001t0002g0022a0001c0001t0002g0023others(56): Show | 59 | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(56): Show |
intron_variant | MODIFIER | c.3874-3222G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649620 | ||||||
| chr7:117649831
|
G | A | 5 | a0001c0005t0006g0038a0001c0006t0006g0005a0001c0006t0006g0013others(2): Show | 5 | HG01346.hp1 HG02970.hp2 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.3874-3011G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649831 | ||||||
| chr7:117649937
|
A | G | 1 | a0001c0001t0002g0195 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.3874-2905A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649937 | ||||||
| chr7:117649956
|
C | T | 2 | a0001c0001t0002g0195a0002c0020t0002g0079 | 2 | HG02630.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.3874-2886C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117649956 | ||||||
| chr7:117650007
|
A | T | 10 | a0001c0001t0002g0075a0001c0001t0002g0076a0001c0001t0002g0077others(7): Show | 10 | HG01891.hp1 HG02109.hp2 HG02258.hp2 others(7): Show |
intron_variant | MODIFIER | c.3874-2835A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117650007 | ||||||
| chr7:117650113
|
C | T | 1 | a0002c0002t0001g0110 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.3874-2729C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117650113 | ||||||
| chr7:117650204
|
C | T | 1 | a0002c0020t0002g0079 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.3874-2638C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117650204 | ||||||
| chr7:117650407
|
A | G | 3 | a0001c0006t0003g0193a0001c0006t0003g0198a0001c0019t0003g0192 | 3 | HG02258.hp1 HG02559.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.3874-2435A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117650407 | ||||||
| chr7:117650576
|
T | A | 1 | a0001c0001t0005g0047 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.3874-2266T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117650576 | ||||||
| chr7:117651037
|
C | G | 1 | a0001c0003t0003g0183 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.3874-1805C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117651037 | ||||||
| chr7:117651078
|
A | G | 1 | a0006c0010t0001g0170 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.3874-1764A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117651078 | ||||||
| chr7:117651217
|
T | A | 2 | a0001c0001t0002g0195a0002c0020t0002g0079 | 2 | HG02630.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.3874-1625T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117651217 | ||||||
| chr7:117651307
|
A | G | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3874-1535A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117651307 | ||||||
| chr7:117651313
|
G | A | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.3874-1529G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117651313 | ||||||
| chr7:117651455
|
C | T | 1 | a0001c0003t0003g0001 | 2 | HG01257.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.3874-1387C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117651455 | ||||||
| chr7:117651582
|
C | G | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3874-1260C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117651582 | ||||||
| chr7:117651679
|
TTC | T | 5 | a0001c0001t0002g0075a0001c0001t0002g0077a0001c0001t0002g0078others(2): Show | 5 | HG01891.hp1 HG02258.hp2 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.3874-1161_3874-116 others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr7 | 117651679 | |||||
| chr7:117652026
|
C | G | 2 | a0001c0001t0004g0135a0001c0001t0004g0138 | 2 | HG02922.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.3874-816C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117652026 | ||||||
| chr7:117652197
|
A | T | 2 | a0001c0001t0004g0135a0001c0001t0004g0138 | 2 | HG02922.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.3874-645A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117652197 | ||||||
| chr7:117652282
|
C | T | 59 | a0001c0001t0002g0020a0001c0001t0002g0022a0001c0001t0002g0023others(56): Show | 59 | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(56): Show |
intron_variant | MODIFIER | c.3874-560C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117652282 | ||||||
| chr7:117652543
|
A | G | 3 | a0001c0003t0003g0180a0001c0003t0003g0181a0001c0003t0003g0185 | 3 | HG01070.hp1 HG01071.hp1 HG01346.hp2 |
intron_variant | MODIFIER | c.3874-299A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117652543 | ||||||
| chr7:117652642
|
G | A | 39 | a0001c0001t0002g0195a0001c0003t0003g0001a0001c0003t0003g0021others(36): Show | 40 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(37): Show |
intron_variant | MODIFIER | c.3874-200G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 23/26 | chr7 | 117652642 | ||||||
| chr7:117653039
|
A | T | 1 | a0002c0002t0001g0111 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.3963+108A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117653039 | ||||||
| chr7:117653498
|
T | G | 38 | a0001c0001t0002g0195a0001c0003t0003g0001a0001c0003t0003g0021others(35): Show | 39 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(36): Show |
intron_variant | MODIFIER | c.3963+567T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117653498 | ||||||
| chr7:117653627
|
G | A | 1 | a0001c0004t0001g0017 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.3963+696G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117653627 | ||||||
| chr7:117653901
|
C | T | 1 | a0001c0001t0002g0054 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.3963+970C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117653901 | ||||||
| chr7:117654073
|
C | G | 1 | a0001c0006t0003g0193 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.3963+1142C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117654073 | ||||||
| chr7:117654247
|
C | T | 31 | a0001c0003t0003g0001a0001c0003t0003g0021a0001c0003t0003g0026others(28): Show | 32 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(29): Show |
intron_variant | MODIFIER | c.3963+1316C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117654247 | ||||||
| chr7:117654275
|
C | T | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3963+1344C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117654275 | ||||||
| chr7:117654423
|
G | A | 1 | a0001c0003t0003g0001 | 2 | HG01257.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.3963+1492G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117654423 | ||||||
| chr7:117654484
|
AT | A | 3 | a0001c0005t0003g0149a0001c0006t0003g0015a0007c0024t0003g0148 | 3 | HG02683.hp2 HG02818.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.3963+1556delT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr7 | 117654484 | |||||
| chr7:117654542
|
G | A | 1 | a0002c0002t0001g0085 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.3963+1611G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117654542 | ||||||
| chr7:117654676
|
C | T | 42 | a0001c0003t0003g0001a0001c0003t0003g0021a0001c0003t0003g0026others(39): Show | 43 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(40): Show |
intron_variant | MODIFIER | c.3963+1745C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117654676 | ||||||
| chr7:117654808
|
C | T | 1 | a0002c0002t0001g0081 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.3963+1877C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117654808 | ||||||
| chr7:117655030
|
G | C | 2 | a0001c0004t0001g0010a0001c0004t0001g0011 | 2 | HG01516.hp2 NA20805.hp2 |
intron_variant | MODIFIER | c.3963+2099G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117655030 | ||||||
| chr7:117655140
|
A | C | 1 | a0001c0005t0003g0196 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.3963+2209A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117655140 | ||||||
| chr7:117655184
|
C | G | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3963+2253C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117655184 | ||||||
| chr7:117655321
|
G | A | 5 | a0002c0002t0001g0086a0002c0002t0001g0089a0002c0002t0001g0092others(2): Show | 5 | HG00099.hp2 HG00140.hp2 HG02148.hp2 others(2): Show |
intron_variant | MODIFIER | c.3963+2390G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117655321 | ||||||
| chr7:117655606
|
G | C | 1 | a0002c0002t0001g0107 | 1 | NA18978.hp2 | intron_variant | MODIFIER | c.3963+2675G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117655606 | ||||||
| chr7:117655643
|
C | A | 1 | a0002c0002t0008g0162 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.3963+2712C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117655643 | ||||||
| chr7:117655884
|
A | G | 1 | a0001c0005t0003g0194 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.3963+2953A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117655884 | ||||||
| chr7:117656115
|
T | C | 1 | a0002c0020t0002g0079 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.3963+3184T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117656115 | ||||||
| chr7:117656539
|
C | G | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3963+3608C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117656539 | ||||||
| chr7:117656576
|
G | T | 26 | a0001c0003t0003g0001a0001c0003t0003g0021a0001c0003t0003g0026others(23): Show | 27 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(24): Show |
intron_variant | MODIFIER | c.3963+3645G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117656576 | ||||||
| chr7:117656794
|
T | G | 1 | a0001c0003t0003g0141 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.3963+3863T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117656794 | ||||||
| chr7:117657128
|
G | A | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3963+4197G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117657128 | ||||||
| chr7:117657472
|
G | A | 1 | a0001c0001t0002g0022 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.3963+4541G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117657472 | ||||||
| chr7:117657983
|
G | C | 2 | a0001c0001t0002g0003a0001c0001t0002g0004 | 2 | HG01433.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.3963+5052G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117657983 | ||||||
| chr7:117658020
|
G | C | 1 | a0002c0002t0001g0041 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.3963+5089G>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117658020 | ||||||
| chr7:117658237
|
C | T | 12 | a0001c0001t0002g0195a0001c0004t0002g0115a0001c0004t0002g0124others(9): Show | 12 | HG01074.hp1 HG01192.hp2 HG01433.hp1 others(9): Show |
intron_variant | MODIFIER | c.3963+5306C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117658237 | ||||||
| chr7:117658892
|
T | C | 1 | a0001c0004t0001g0011 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.3964-5796T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117658892 | ||||||
| chr7:117659159
|
C | T | 1 | a0001c0001t0009g0052 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.3964-5529C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117659159 | ||||||
| chr7:117659241
|
C | T | 1 | a0001c0001t0005g0066 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3964-5447C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117659241 | ||||||
| chr7:117659544
|
T | C | 2 | a0001c0001t0002g0195a0002c0020t0002g0079 | 2 | HG02630.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.3964-5144T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117659544 | ||||||
| chr7:117659616
|
T | G | 1 | a0001c0001t0002g0029 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.3964-5072T>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117659616 | ||||||
| chr7:117659644
|
C | G | 4 | a0003c0007t0001g0100a0003c0007t0001g0166a0003c0007t0001g0167others(1): Show | 4 | HG00609.hp1 NA18947.hp1 NA18992.hp1 others(1): Show |
intron_variant | MODIFIER | c.3964-5044C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117659644 | ||||||
| chr7:117660030
|
AT | A | 41 | a0001c0003t0003g0001a0001c0003t0003g0021a0001c0003t0003g0026others(38): Show | 42 | HG00323.hp1 HG00642.hp2 HG01071.hp1 others(39): Show |
intron_variant | MODIFIER | c.3964-4645delT | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr7 | 117660030 | |||||
| chr7:117660134
|
A | C | 42 | a0001c0003t0003g0001a0001c0003t0003g0021a0001c0003t0003g0026others(39): Show | 43 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(40): Show |
intron_variant | MODIFIER | c.3964-4554A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117660134 | ||||||
| chr7:117660205
|
C | G | 42 | a0001c0003t0003g0001a0001c0003t0003g0021a0001c0003t0003g0026others(39): Show | 43 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(40): Show |
intron_variant | MODIFIER | c.3964-4483C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117660205 | ||||||
| chr7:117660433
|
A | C | 13 | a0001c0001t0002g0195a0001c0004t0002g0008a0001c0004t0002g0115others(10): Show | 13 | HG01074.hp1 HG01192.hp2 HG01433.hp1 others(10): Show |
intron_variant | MODIFIER | c.3964-4255A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117660433 | ||||||
| chr7:117660666
|
A | ATG | 65 | a0001c0001t0002g0020a0001c0001t0002g0022a0001c0001t0002g0023others(62): Show | 65 | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(62): Show |
intron_variant | MODIFIER | c.3964-4000_3964-399 others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr7 | 117660666 | |||||
| chr7:117660688
|
G | A | 31 | a0001c0003t0003g0001a0001c0003t0003g0021a0001c0003t0003g0026others(28): Show | 32 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(29): Show |
intron_variant | MODIFIER | c.3964-4000G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117660688 | ||||||
| chr7:117660796
|
CTGTT | C | 3 | a0001c0001t0002g0036a0001c0006t0003g0198a0001c0019t0003g0192 | 3 | HG02129.hp2 HG02258.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.3964-3882_3964-387 others(8): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr7 | 117660796 | |||||
| chr7:117661017
|
G | A | 9 | a0001c0001t0004g0009a0001c0001t0004g0018a0001c0001t0004g0072others(6): Show | 9 | HG02723.hp2 HG02922.hp1 HG03130.hp2 others(6): Show |
intron_variant | MODIFIER | c.3964-3671G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117661017 | ||||||
| chr7:117661195
|
A | G | 4 | a0001c0001t0002g0076a0001c0001t0002g0120a0001c0001t0002g0123others(1): Show | 4 | HG02109.hp2 HG02451.hp2 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.3964-3493A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117661195 | ||||||
| chr7:117661240
|
T | C | 9 | a0001c0001t0004g0009a0001c0001t0004g0018a0001c0001t0004g0072others(6): Show | 9 | HG02723.hp2 HG02922.hp1 HG03130.hp2 others(6): Show |
intron_variant | MODIFIER | c.3964-3448T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117661240 | ||||||
| chr7:117661274
|
G | A | 4 | a0002c0002t0001g0086a0002c0002t0001g0089a0002c0002t0001g0110others(1): Show | 4 | HG00099.hp2 HG00140.hp2 HG02257.hp2 others(1): Show |
intron_variant | MODIFIER | c.3964-3414G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117661274 | ||||||
| chr7:117661410
|
A | C | 2 | a0001c0005t0003g0150a0001c0006t0003g0193 | 2 | HG02559.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.3964-3278A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117661410 | ||||||
| chr7:117661412
|
C | A | 1 | a0002c0002t0001g0163 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.3964-3276C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117661412 | ||||||
| chr7:117661876
|
C | T | 2 | a0001c0003t0003g0141a0001c0003t0003g0190 | 2 | HG02451.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.3964-2812C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117661876 | ||||||
| chr7:117661983
|
G | GA | 17 | a0001c0001t0001g0053a0001c0004t0001g0006a0001c0004t0001g0007others(14): Show | 17 | HG00609.hp1 HG01071.hp2 HG01074.hp2 others(14): Show |
intron_variant | MODIFIER | c.3964-2682dupA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr7 | 117661983 | |||||
| chr7:117661983
|
GAA | G | 28 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0045others(25): Show | 28 | HG00642.hp2 HG01074.hp1 HG01192.hp2 others(25): Show |
intron_variant | MODIFIER | c.3964-2683_3964-268 others(6): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr7 | 117661983 | |||||
| chr7:117661983
|
GAAA | G | 83 | a0001c0001t0002g0020a0001c0001t0002g0022a0001c0001t0002g0023others(80): Show | 84 | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(81): Show |
intron_variant | MODIFIER | c.3964-2684_3964-268 others(7): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr7 | 117661983 | |||||
| chr7:117661983
|
GAAAA | G | 11 | a0001c0004t0002g0002a0001c0004t0002g0008a0001c0005t0003g0194others(8): Show | 11 | HG01346.hp1 HG01891.hp2 HG02145.hp2 others(8): Show |
intron_variant | MODIFIER | c.3964-2685_3964-268 others(8): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr7 | 117661983 | |||||
| chr7:117662566
|
C | T | 1 | a0001c0001t0002g0195 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.3964-2122C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117662566 | ||||||
| chr7:117662627
|
CA | C | 12 | a0001c0001t0002g0195a0001c0004t0002g0115a0001c0004t0002g0124others(9): Show | 12 | HG01074.hp1 HG01192.hp2 HG01433.hp1 others(9): Show |
intron_variant | MODIFIER | c.3964-2060delA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117662627 | ||||||
| chr7:117662668
|
G | T | 1 | a0001c0004t0002g0008 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.3964-2020G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117662668 | ||||||
| chr7:117662739
|
G | A | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3964-1949G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117662739 | ||||||
| chr7:117662856
|
A | C | 59 | a0001c0001t0002g0020a0001c0001t0002g0022a0001c0001t0002g0023others(56): Show | 59 | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(56): Show |
intron_variant | MODIFIER | c.3964-1832A>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117662856 | ||||||
| chr7:117663091
|
C | A | 41 | a0001c0003t0003g0001a0001c0003t0003g0021a0001c0003t0003g0026others(38): Show | 42 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(39): Show |
intron_variant | MODIFIER | c.3964-1597C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117663091 | ||||||
| chr7:117663189
|
G | T | 41 | a0001c0003t0003g0001a0001c0003t0003g0021a0001c0003t0003g0026others(38): Show | 42 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(39): Show |
intron_variant | MODIFIER | c.3964-1499G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117663189 | ||||||
| chr7:117663278
|
A | G | 1 | a0001c0001t0002g0067 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.3964-1410A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117663278 | ||||||
| chr7:117663338
|
T | A | 1 | a0002c0002t0001g0108 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.3964-1350T>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117663338 | ||||||
| chr7:117663392
|
C | T | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3964-1296C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117663392 | ||||||
| chr7:117663509
|
TA | T | 104 | a0001c0001t0002g0020a0001c0001t0002g0022a0001c0001t0002g0023others(101): Show | 105 | HG00140.hp1 HG00323.hp1 HG00609.hp2 others(102): Show |
intron_variant | MODIFIER | c.3964-1161delA | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr7 | 117663509 | |||||
| chr7:117663510
|
A | T | 2 | a0001c0005t0003g0150a0001c0006t0003g0193 | 2 | HG02559.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.3964-1178A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117663510 | ||||||
| chr7:117663597
|
G | A | 3 | a0001c0001t0002g0034a0001c0001t0002g0117a0015c0012t0002g0033 | 3 | HG00099.hp1 HG01993.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.3964-1091G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117663597 | ||||||
| chr7:117663882
|
C | G | 1 | a0001c0001t0004g0009 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.3964-806C>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117663882 | ||||||
| chr7:117664298
|
G | A | 12 | a0001c0001t0002g0195a0001c0004t0002g0115a0001c0004t0002g0124others(9): Show | 12 | HG01074.hp1 HG01192.hp2 HG01433.hp1 others(9): Show |
intron_variant | MODIFIER | c.3964-390G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117664298 | ||||||
| chr7:117664301
|
A | G | 3 | a0001c0006t0006g0005a0001c0006t0006g0013a0001c0006t0006g0014 | 3 | HG02970.hp2 NA19030.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.3964-387A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117664301 | ||||||
| chr7:117664405
|
T | C | 42 | a0001c0003t0003g0001a0001c0003t0003g0021a0001c0003t0003g0026others(39): Show | 43 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(40): Show |
intron_variant | MODIFIER | c.3964-283T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117664405 | ||||||
| chr7:117664500
|
G | T | 1 | a0001c0006t0006g0014 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.3964-188G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117664500 | ||||||
| chr7:117664535
|
T | C | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.3964-153T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117664535 | ||||||
| chr7:117664628
|
A | T | 1 | a0001c0003t0003g0040 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.3964-60A>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 24/26 | chr7 | 117664628 | ||||||
| chr7:117664908
|
C | A | 1 | a0001c0005t0003g0197 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.4136+48C>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 25/26 | chr7 | 117664908 | ||||||
| chr7:117665097
|
C | T | 59 | a0001c0001t0002g0020a0001c0001t0002g0022a0001c0001t0002g0023others(56): Show | 59 | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(56): Show |
intron_variant | MODIFIER | c.4136+237C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 25/26 | chr7 | 117665097 | ||||||
| chr7:117665263
|
G | A | 1 | a0001c0001t0002g0050 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.4137-196G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 25/26 | chr7 | 117665263 | ||||||
| chr7:117665320
|
G | A | 42 | a0001c0003t0003g0001a0001c0003t0003g0021a0001c0003t0003g0026others(39): Show | 43 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(40): Show |
intron_variant | MODIFIER | c.4137-139G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 25/26 | chr7 | 117665320 | ||||||
| chr7:117665370
|
A | G | 1 | a0001c0004t0003g0191 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.4137-89A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 25/26 | chr7 | 117665370 | ||||||
| chr7:117665577
|
A | G | 2 | a0002c0002t0001g0086a0002c0002t0001g0160 | 2 | HG00140.hp2 HG02257.hp2 |
intron_variant | MODIFIER | c.4242+13A>G | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 26/26 | chr7 | 117665577 | ||||||
| chr7:117665756
|
G | A | 1 | a0001c0006t0003g0142 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.4242+192G>A | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 26/26 | chr7 | 117665756 | ||||||
| chr7:117665762
|
T | C | 42 | a0001c0003t0003g0001a0001c0003t0003g0021a0001c0003t0003g0026others(39): Show | 43 | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(40): Show |
intron_variant | MODIFIER | c.4242+198T>C | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 26/26 | chr7 | 117665762 | ||||||
| chr7:117665958
|
C | T | 1 | a0001c0004t0002g0008 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.4242+394C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 26/26 | chr7 | 117665958 | ||||||
| chr7:117666096
|
C | T | 9 | a0001c0001t0004g0009a0001c0001t0004g0018a0001c0001t0004g0072others(6): Show | 9 | HG02723.hp2 HG02922.hp1 HG03130.hp2 others(6): Show |
intron_variant | MODIFIER | c.4242+532C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 26/26 | chr7 | 117666096 | ||||||
| chr7:117666334
|
G | T | 2 | a0001c0001t0002g0003a0001c0001t0002g0004 | 2 | HG01433.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.4243-574G>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 26/26 | chr7 | 117666334 | ||||||
| chr7:117666855
|
C | T | 1 | a0001c0003t0003g0048 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.4243-53C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 26/26 | chr7 | 117666855 | ||||||
| chr7:117666903
|
C | T | 1 | a0001c0005t0003g0194 | 1 | HG02145.hp2 | splice_region_variant&intron_variant | LOW | c.4243-5C>T | CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 26/26 | chr7 | 117666903 |