| geneid | 728621 |
|---|---|
| ensemblid | ENSG00000186409.19 |
| hgncid | 26103 |
| symbol | CCDC30 |
| name | coiled-coil domain containing 30 |
| refseq_nuc | NM_001395517.1 |
| refseq_prot | NP_001382446.1 |
| ensembl_nuc | ENST00000657597.2 |
| ensembl_prot | ENSP00000499662.2 |
| mane_status | MANE Select |
| chr | chr1 |
| start | 42463286 |
| end | 42657190 |
| strand | + |
| ver | v1.2 |
| region | chr1:42463286-42657190 |
| region5000 | chr1:42458286-42662190 |
| regionname0 | CCDC30_chr1_42463286_42657190 |
| regionname5000 | CCDC30_chr1_42458286_42662190 |
| ahapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 938 | 256 | 63 | 44 | 107 | 8 | 32 | 75 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0002 | 0/0 | 938 | 44 | 6 | 10 | 21 | 3 | 4 | 16 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0003 | 0/0 | 938 | 13 | 7 | 4 | 0 | 0 | 2 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0004 | 0/0 | 938 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0005 | 0/0 | 938 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0006 | 0/0 | 938 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0007 | 0/0 | 938 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0008 | 0/0 | 106 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0009 | 0/0 | 938 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0010 | 0/0 | 938 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0011 | 0/0 | 938 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| chapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 1/1 | 2817 | 131 | 25 | 34 | 43 | 7 | 20 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| c0002 | 0/0 | 2817 | 53 | 2 | 5 | 40 | 1 | 5 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| c0003 | 0/0 | 2817 | 42 | 6 | 10 | 21 | 3 | 2 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| c0004 | 0/0 | 2817 | 36 | 6 | 3 | 20 | 0 | 7 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| c0005 | 0/0 | 2817 | 10 | 10 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| c0006 | 0/0 | 2817 | 7 | 7 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| c0007 | 0/0 | 2817 | 6 | 5 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| c0008 | 0/0 | 2817 | 5 | 2 | 2 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| c0009 | 0/0 | 2817 | 4 | 4 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| c0010 | 0/0 | 2817 | 4 | 0 | 1 | 3 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| c0011 | 0/0 | 2817 | 3 | 3 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| c0012 | 0/0 | 2817 | 2 | 2 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| c0013 | 0/0 | 2817 | 2 | 1 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| c0014 | 0/0 | 2817 | 2 | 1 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| c0015 | 0/0 | 2817 | 2 | 1 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| c0016 | 0/0 | 2817 | 2 | 0 | 0 | 0 | 0 | 2 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| c0017 | 0/0 | 2817 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| c0018 | 0/0 | 2817 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| c0019 | 0/0 | 2817 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| c0020 | 0/0 | 2817 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| c0021 | 0/0 | 2817 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| c0022 | 0/0 | 2817 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| c0023 | 0/0 | 2817 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| c0024 | 0/0 | 2817 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| c0025 | 0/0 | 2817 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| c0026 | 0/0 | 2817 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| c0027 | 0/0 | 2817 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| c0028 | 0/0 | 2817 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| c0029 | 0/0 | 2817 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| thapid | grch38chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 1/1 | 3867 | 85 | 19 | 20 | 34 | 3 | 7 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0002 | 0/0 | 3866 | 49 | 1 | 5 | 37 | 2 | 4 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0003 | 0/0 | 3867 | 34 | 6 | 8 | 17 | 2 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0004 | 0/0 | 3868 | 23 | 3 | 1 | 16 | 0 | 3 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0005 | 0/0 | 3867 | 21 | 13 | 2 | 5 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0006 | 0/0 | 3868 | 20 | 5 | 10 | 0 | 2 | 3 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0007 | 0/0 | 3868 | 7 | 2 | 2 | 3 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0008 | 0/0 | 3865 | 7 | 7 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0009 | 0/0 | 3867 | 7 | 4 | 1 | 0 | 0 | 2 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0010 | 0/0 | 3867 | 5 | 0 | 0 | 4 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0011 | 0/0 | 3869 | 5 | 0 | 0 | 0 | 2 | 3 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0012 | 0/0 | 3867 | 5 | 1 | 2 | 0 | 0 | 2 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0013 | 0/0 | 3867 | 4 | 0 | 1 | 0 | 0 | 3 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0014 | 0/0 | 3868 | 4 | 1 | 1 | 2 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0015 | 0/0 | 3869 | 4 | 2 | 0 | 1 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0016 | 0/0 | 3866 | 3 | 0 | 1 | 2 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0017 | 0/0 | 3868 | 3 | 3 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0018 | 0/0 | 3866 | 2 | 0 | 0 | 1 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0019 | 0/0 | 3866 | 2 | 2 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0020 | 0/0 | 3867 | 2 | 0 | 0 | 0 | 0 | 2 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0021 | 0/0 | 3867 | 2 | 0 | 0 | 2 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0022 | 0/0 | 3869 | 2 | 2 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0023 | 0/0 | 3868 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0024 | 0/0 | 3867 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0025 | 0/0 | 3867 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0026 | 0/0 | 3865 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0027 | 0/0 | 3865 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0028 | 0/0 | 3868 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0029 | 0/0 | 3868 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0030 | 0/0 | 3867 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0031 | 0/0 | 3866 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0032 | 0/0 | 3866 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0033 | 0/0 | 3867 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0034 | 0/0 | 3867 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0035 | 0/0 | 3866 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0036 | 0/0 | 3868 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0037 | 0/0 | 3866 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0038 | 0/0 | 3868 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0039 | 0/0 | 3868 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0040 | 0/0 | 3867 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0041 | 0/0 | 3867 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0042 | 0/0 | 3868 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0043 | 0/0 | 3865 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0044 | 0/0 | 3866 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0045 | 0/0 | 3866 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0046 | 0/0 | 3868 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0047 | 0/0 | 3869 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0048 | 0/0 | 3869 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0049 | 0/0 | 3870 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| t0050 | 0/0 | 3868 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| ghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0006 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0010 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0015 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0024 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0026 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0028 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0035 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0043 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0044 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0045 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0046 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0069 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0074 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0083 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0087 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0088 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0091 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0092 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0094 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0095 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0103 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0107 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0109 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0111 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0113 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0114 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0115 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0116 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0126 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0131 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0133 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0137 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0138 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0140 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0141 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0142 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0145 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0148 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0169 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0170 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0171 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0172 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0173 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0174 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0176 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0177 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0179 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0180 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0181 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0182 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0183 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0184 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0185 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0186 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0187 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0188 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0189 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0191 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0192 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0193 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0194 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0195 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0196 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0197 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0200 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0203 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0204 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0208 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0210 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0213 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0214 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0217 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0219 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0221 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0223 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0224 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0225 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0228 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0229 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0230 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0231 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0232 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0233 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0236 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0237 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0238 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0239 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0240 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0241 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0244 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0245 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0246 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0247 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0248 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0249 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0250 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0251 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0252 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0253 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0254 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0255 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0256 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0257 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0258 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0259 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0260 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0261 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0262 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0263 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0264 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0265 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0266 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0267 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0268 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0269 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0270 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0271 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0272 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0273 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0274 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0275 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0276 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0277 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0278 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0279 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0280 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0281 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0282 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0283 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0284 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0285 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0286 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0287 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0288 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0289 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0290 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0291 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0292 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0293 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0294 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0295 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0296 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0297 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0298 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0299 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0300 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0301 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0302 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0303 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0304 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0305 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0306 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0307 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0308 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0309 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0310 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0311 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0312 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0313 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0314 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0315 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0316 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0317 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0318 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0319 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0320 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0321 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0322 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| g0323 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| achapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 2817 | 131 | 25 | 34 | 43 | 7 | 20 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0002 | 0/0 | 2817 | 53 | 2 | 5 | 40 | 1 | 5 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0004 | 0/0 | 2817 | 36 | 6 | 3 | 20 | 0 | 7 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0005 | 0/0 | 2817 | 10 | 10 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0006 | 0/0 | 2817 | 7 | 7 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0007 | 0/0 | 2817 | 6 | 5 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0009 | 0/0 | 2817 | 4 | 4 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0010 | 0/0 | 2817 | 4 | 0 | 1 | 3 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0013 | 0/0 | 2817 | 2 | 1 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0017 | 0/0 | 2817 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0019 | 0/0 | 2817 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0021 | 0/0 | 2817 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0002c0003 | 0/0 | 2817 | 42 | 6 | 10 | 21 | 3 | 2 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0002c0016 | 0/0 | 2817 | 2 | 0 | 0 | 0 | 0 | 2 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0003c0008 | 0/0 | 2817 | 5 | 2 | 2 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0003c0012 | 0/0 | 2817 | 2 | 2 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0003c0014 | 0/0 | 2817 | 2 | 1 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0003c0015 | 0/0 | 2817 | 2 | 1 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0003c0022 | 0/0 | 2817 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0003c0024 | 0/0 | 2817 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0004c0011 | 0/0 | 2817 | 3 | 3 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0005c0018 | 0/0 | 2817 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0005c0020 | 0/0 | 2817 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0006c0029 | 0/0 | 2817 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0007c0028 | 0/0 | 2817 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0008c0027 | 0/0 | 2817 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0009c0023 | 0/0 | 2817 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0010c0025 | 0/0 | 2817 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0011c0026 | 0/0 | 2817 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 1/1 | 6683 | 84 | 19 | 20 | 33 | 3 | 7 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0001t0006 | 0/0 | 6684 | 19 | 4 | 10 | 0 | 2 | 3 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0001t0007 | 0/0 | 6684 | 6 | 1 | 2 | 3 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0001t0010 | 0/0 | 6683 | 5 | 0 | 0 | 4 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0001t0011 | 0/0 | 6685 | 5 | 0 | 0 | 0 | 2 | 3 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0001t0013 | 0/0 | 6683 | 4 | 0 | 1 | 0 | 0 | 3 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0001t0018 | 0/0 | 6682 | 2 | 0 | 0 | 1 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0001t0019 | 0/0 | 6682 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0001t0023 | 0/0 | 6684 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0001t0024 | 0/0 | 6683 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0001t0025 | 0/0 | 6683 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0001t0027 | 0/0 | 6681 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0001t0030 | 0/0 | 6683 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0002t0002 | 0/0 | 6682 | 47 | 1 | 5 | 36 | 1 | 4 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0002t0021 | 0/0 | 6683 | 2 | 0 | 0 | 2 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0002t0032 | 0/0 | 6682 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0002t0033 | 0/0 | 6683 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0002t0043 | 0/0 | 6681 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0002t0044 | 0/0 | 6682 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0004t0002 | 0/0 | 6682 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0004t0003 | 0/0 | 6683 | 3 | 2 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0004t0004 | 0/0 | 6684 | 20 | 1 | 1 | 15 | 0 | 3 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0004t0005 | 0/0 | 6683 | 2 | 0 | 0 | 2 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0004t0009 | 0/0 | 6683 | 3 | 0 | 1 | 0 | 0 | 2 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0004t0015 | 0/0 | 6685 | 3 | 1 | 0 | 1 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0004t0022 | 0/0 | 6685 | 2 | 2 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0004t0040 | 0/0 | 6683 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0004t0050 | 0/0 | 6684 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0005t0005 | 0/0 | 6683 | 7 | 7 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0005t0008 | 0/0 | 6681 | 2 | 2 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0005t0036 | 0/0 | 6684 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0006t0004 | 0/0 | 6684 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0006t0005 | 0/0 | 6683 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0006t0008 | 0/0 | 6681 | 4 | 4 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0006t0015 | 0/0 | 6685 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0007t0005 | 0/0 | 6683 | 6 | 5 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0009t0017 | 0/0 | 6684 | 3 | 3 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0009t0047 | 0/0 | 6685 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0010t0004 | 0/0 | 6684 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0010t0005 | 0/0 | 6683 | 2 | 0 | 0 | 2 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0010t0035 | 0/0 | 6682 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0013t0019 | 0/0 | 6682 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0013t0031 | 0/0 | 6682 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0017t0006 | 0/0 | 6684 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0019t0007 | 0/0 | 6684 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0001c0021t0045 | 0/0 | 6682 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0002c0003t0003 | 0/0 | 6683 | 30 | 3 | 7 | 17 | 2 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0002c0003t0004 | 0/0 | 6684 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0002c0003t0005 | 0/0 | 6683 | 3 | 0 | 1 | 1 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0002c0003t0009 | 0/0 | 6683 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0002c0003t0014 | 0/0 | 6684 | 3 | 1 | 1 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0002c0003t0016 | 0/0 | 6682 | 3 | 0 | 1 | 2 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0002c0003t0034 | 0/0 | 6683 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0002c0016t0020 | 0/0 | 6683 | 2 | 0 | 0 | 0 | 0 | 2 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0003c0008t0012 | 0/0 | 6683 | 4 | 1 | 2 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0003c0008t0037 | 0/0 | 6682 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0003c0012t0048 | 0/0 | 6685 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0003c0012t0049 | 0/0 | 6686 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0003c0014t0028 | 0/0 | 6684 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0003c0014t0029 | 0/0 | 6684 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0003c0015t0038 | 0/0 | 6684 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0003c0015t0041 | 0/0 | 6683 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0003c0022t0046 | 0/0 | 6684 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0003c0024t0012 | 0/0 | 6683 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0004c0011t0009 | 0/0 | 6683 | 3 | 3 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0005c0018t0026 | 0/0 | 6681 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0005c0020t0008 | 0/0 | 6681 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0006c0029t0039 | 0/0 | 6684 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0007c0028t0003 | 0/0 | 6683 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0008c0027t0014 | 0/0 | 6684 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0009c0023t0002 | 0/0 | 6682 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0010c0025t0001 | 0/0 | 6683 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| a0011c0026t0042 | 0/0 | 6684 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | copy fasta | chr1 | 42458286 | 42662190 |
| actghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0069 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0074 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0083 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0088 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0091 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0103 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0107 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0109 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0111 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0113 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0114 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0115 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0116 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0126 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0131 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0133 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0137 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0138 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0140 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0141 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0142 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0148 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0169 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0197 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0001g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0006g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0006g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0006g0171 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0006g0173 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0006g0176 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0006g0177 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0006g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0006g0179 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0006g0180 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0006g0181 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0006g0182 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0006g0186 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0006g0187 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0006g0188 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0006g0189 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0006g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0006g0191 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0006g0192 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0006g0193 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0007g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0007g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0007g0087 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0007g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0007g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0007g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0010g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0010g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0010g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0010g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0010g0196 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0011g0092 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0011g0172 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0011g0183 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0011g0184 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0011g0194 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0013g0170 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0013g0174 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0013g0185 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0013g0195 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0018g0095 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0018g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0019g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0023g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0024g0145 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0025g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0027g0094 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0001t0030g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0204 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0208 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0213 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0217 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0219 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0221 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0224 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0225 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0228 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0229 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0230 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0231 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0232 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0233 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0239 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0240 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0241 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0244 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0245 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0246 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0247 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0248 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0250 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0251 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0252 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0253 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0254 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0259 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0260 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0264 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0281 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0287 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0002g0295 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0021g0249 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0021g0256 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0032g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0033g0266 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0043g0296 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0002t0044g0257 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0004t0002g0298 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0004t0003g0237 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0004t0003g0255 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0004t0003g0291 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0004t0004g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0004t0004g0200 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0004t0004g0236 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0004t0004g0258 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0004t0004g0261 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0004t0004g0267 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0004t0004g0268 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0004t0004g0269 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0004t0004g0270 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0004t0004g0271 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0004t0004g0276 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0004t0004g0280 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0004t0004g0282 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0004t0004g0283 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0004t0004g0284 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0004t0004g0285 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0004t0004g0286 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0004t0004g0288 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0004t0004g0297 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0004t0004g0310 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0004t0005g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0004t0005g0238 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0004t0009g0214 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0004t0009g0272 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0004t0009g0292 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0004t0015g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0004t0015g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0004t0015g0210 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0004t0022g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0004t0022g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0004t0040g0293 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0004t0050g0279 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0005t0005g0300 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0005t0005g0301 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0005t0005g0302 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0005t0005g0303 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0005t0005g0304 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0005t0005g0306 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0005t0005g0307 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0005t0008g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0005t0008g0203 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0005t0036g0309 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0006t0004g0311 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0006t0005g0320 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0006t0008g0314 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0006t0008g0318 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0006t0008g0321 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0006t0008g0322 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0006t0015g0312 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0007t0005g0313 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0007t0005g0315 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0007t0005g0316 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0007t0005g0317 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0007t0005g0319 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0007t0005g0323 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0009t0017g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0009t0017g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0009t0017g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0009t0047g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0010t0004g0275 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0010t0005g0277 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0010t0005g0278 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0010t0035g0274 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0013t0019g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0013t0031g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0017t0006g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0019t0007g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0001c0021t0045g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0002c0003t0003g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0002c0003t0003g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0002c0003t0003g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0002c0003t0003g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0002c0003t0003g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0002c0003t0003g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0002c0003t0003g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0002c0003t0003g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0002c0003t0003g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0002c0003t0003g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0002c0003t0003g0026 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0002c0003t0003g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0002c0003t0003g0028 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0002c0003t0003g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0002c0003t0003g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0002c0003t0003g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0002c0003t0003g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0002c0003t0003g0035 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0002c0003t0003g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0002c0003t0003g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0002c0003t0003g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0002c0003t0003g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0002c0003t0003g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0002c0003t0003g0043 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0002c0003t0003g0044 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0002c0003t0003g0045 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0002c0003t0003g0046 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0002c0003t0003g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0002c0003t0003g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0002c0003t0003g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0002c0003t0004g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0002c0003t0005g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0002c0003t0005g0024 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0002c0003t0005g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0002c0003t0009g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0002c0003t0014g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0002c0003t0014g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0002c0003t0014g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0002c0003t0016g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0002c0003t0016g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0002c0003t0016g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0002c0003t0034g0015 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0002c0016t0020g0006 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0002c0016t0020g0010 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0003c0008t0012g0262 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0003c0008t0012g0265 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0003c0008t0012g0289 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0003c0008t0012g0294 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0003c0008t0037g0263 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0003c0012t0048g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0003c0012t0049g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0003c0014t0028g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0003c0014t0029g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0003c0015t0038g0305 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0003c0015t0041g0308 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0003c0022t0046g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0003c0024t0012g0290 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0004c0011t0009g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0004c0011t0009g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0004c0011t0009g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0005c0018t0026g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0005c0020t0008g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0006c0029t0039g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0007c0028t0003g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0008c0027t0014g0273 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0009c0023t0002g0223 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0010c0025t0001g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| a0011c0026t0042g0299 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0006 | g0189 | EUR | GBR | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG00099 | hp2 | a0009 | c0023 | t0002 | g0223 | EUR | GBR | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG00280 | hp1 | a0001 | c0002 | t0002 | g0224 | EUR | FIN | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG00280 | hp2 | a0001 | c0001 | t0001 | g0148 | EUR | FIN | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG00323 | hp1 | a0001 | c0001 | t0001 | g0103 | EUR | FIN | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG00323 | hp2 | a0002 | c0003 | t0003 | g0035 | EUR | FIN | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG00408 | hp1 | a0001 | c0002 | t0002 | g0252 | EAS | CHS | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG00408 | hp2 | a0010 | c0025 | t0001 | g0120 | EAS | CHS | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG00423 | hp1 | a0001 | c0001 | t0030 | g0146 | EAS | CHS | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG00423 | hp2 | a0001 | c0002 | t0002 | g0251 | EAS | CHS | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG00438 | hp1 | a0001 | c0004 | t0004 | g0269 | EAS | CHS | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG00438 | hp2 | a0001 | c0001 | t0001 | g0144 | EAS | CHS | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG00544 | hp1 | a0001 | c0002 | t0002 | g0253 | EAS | CHS | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG00544 | hp2 | a0001 | c0001 | t0007 | g0165 | EAS | CHS | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG00558 | hp1 | a0001 | c0002 | t0002 | g0245 | EAS | CHS | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG00558 | hp2 | a0001 | c0001 | t0001 | g0162 | EAS | CHS | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG00597 | hp1 | a0001 | c0002 | t0002 | g0222 | EAS | CHS | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG00597 | hp2 | a0001 | c0001 | t0001 | g0139 | EAS | CHS | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG00609 | hp1 | a0001 | c0002 | t0002 | g0228 | EAS | CHS | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG00609 | hp2 | a0002 | c0003 | t0003 | g0034 | EAS | CHS | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG00621 | hp1 | a0001 | c0001 | t0001 | g0112 | EAS | CHS | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG00621 | hp2 | a0001 | c0002 | t0002 | g0250 | EAS | CHS | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG00639 | hp1 | a0001 | c0001 | t0001 | g0131 | AMR | PUR | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG00639 | hp2 | a0003 | c0014 | t0028 | g0067 | AMR | PUR | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG00673 | hp1 | a0001 | c0004 | t0004 | g0286 | EAS | CHS | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG00673 | hp2 | a0001 | c0001 | t0001 | g0089 | EAS | CHS | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG00733 | hp1 | a0001 | c0002 | t0002 | g0259 | AMR | PUR | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG00733 | hp2 | a0002 | c0003 | t0003 | g0014 | AMR | PUR | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG00735 | hp1 | a0001 | c0002 | t0002 | g0241 | AMR | PUR | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG00735 | hp2 | a0001 | c0001 | t0001 | g0070 | AMR | PUR | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG00738 | hp1 | a0002 | c0003 | t0003 | g0053 | AMR | PUR | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG00738 | hp2 | a0001 | c0001 | t0001 | g0164 | AMR | PUR | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG00741 | hp1 | a0001 | c0001 | t0001 | g0071 | AMR | PUR | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG00741 | hp2 | a0001 | c0001 | t0006 | g0181 | AMR | PUR | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01069 | hp1 | a0001 | c0001 | t0001 | g0142 | AMR | PUR | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01069 | hp2 | a0001 | c0004 | t0004 | g0200 | AMR | PUR | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01071 | hp1 | a0001 | c0001 | t0001 | g0107 | AMR | PUR | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01071 | hp2 | a0001 | c0001 | t0001 | g0175 | AMR | PUR | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01074 | hp1 | a0002 | c0003 | t0003 | g0042 | AMR | PUR | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01074 | hp2 | a0001 | c0010 | t0035 | g0274 | AMR | PUR | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01081 | hp1 | a0001 | c0001 | t0006 | g0191 | AMR | PUR | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01081 | hp2 | a0001 | c0001 | t0025 | g0130 | AMR | PUR | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01099 | hp1 | a0001 | c0001 | t0006 | g0186 | AMR | PUR | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01099 | hp2 | a0001 | c0001 | t0001 | g0125 | AMR | PUR | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01106 | hp1 | a0002 | c0003 | t0005 | g0023 | AMR | PUR | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01106 | hp2 | a0001 | c0001 | t0001 | g0091 | AMR | PUR | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01109 | hp1 | a0001 | c0001 | t0006 | g0173 | AMR | PUR | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01109 | hp2 | a0001 | c0001 | t0001 | g0109 | AMR | PUR | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01167 | hp1 | a0001 | c0004 | t0009 | g0292 | AMR | PUR | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01167 | hp2 | a0003 | c0015 | t0038 | g0305 | AMR | PUR | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01169 | hp1 | a0001 | c0001 | t0001 | g0141 | AMR | PUR | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01169 | hp2 | a0001 | c0004 | t0003 | g0291 | AMR | PUR | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01175 | hp1 | a0002 | c0003 | t0003 | g0046 | AMR | PUR | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01175 | hp2 | a0001 | c0002 | t0002 | g0239 | AMR | PUR | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01243 | hp1 | a0003 | c0008 | t0012 | g0265 | AMR | PUR | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01243 | hp2 | a0001 | c0007 | t0005 | g0316 | AMR | PUR | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01261 | hp1 | a0001 | c0001 | t0001 | g0113 | AMR | CLM | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01261 | hp2 | a0001 | c0001 | t0006 | g0179 | AMR | CLM | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01361 | hp1 | a0001 | c0001 | t0001 | g0138 | AMR | CLM | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01361 | hp2 | a0001 | c0001 | t0006 | g0171 | AMR | CLM | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01433 | hp1 | a0001 | c0001 | t0007 | g0093 | AMR | CLM | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01433 | hp2 | a0002 | c0003 | t0003 | g0043 | AMR | CLM | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01496 | hp1 | a0001 | c0001 | t0001 | g0090 | AMR | CLM | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01496 | hp2 | a0002 | c0003 | t0016 | g0041 | AMR | CLM | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01515 | hp1 | a0001 | c0001 | t0011 | g0194 | EUR | IBS | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01515 | hp2 | a0002 | c0003 | t0003 | g0045 | EUR | IBS | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01516 | hp1 | a0002 | c0003 | t0034 | g0015 | EUR | IBS | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01516 | hp2 | a0001 | c0001 | t0006 | g0188 | EUR | IBS | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01884 | hp1 | a0001 | c0007 | t0005 | g0323 | AFR | ACB | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01884 | hp2 | a0001 | c0019 | t0007 | g0099 | AFR | ACB | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01891 | hp1 | a0001 | c0004 | t0003 | g0237 | AFR | ACB | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01891 | hp2 | a0001 | c0009 | t0047 | g0058 | AFR | ACB | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01928 | hp1 | a0001 | c0001 | t0007 | g0087 | AMR | PEL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01928 | hp2 | a0002 | c0003 | t0003 | g0026 | AMR | PEL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01934 | hp1 | a0001 | c0001 | t0006 | g0187 | AMR | PEL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01934 | hp2 | a0001 | c0001 | t0001 | g0088 | AMR | PEL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01952 | hp1 | a0001 | c0001 | t0001 | g0114 | AMR | PEL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01952 | hp2 | a0001 | c0002 | t0002 | g0204 | AMR | PEL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01975 | hp1 | a0001 | c0001 | t0006 | g0193 | AMR | PEL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01975 | hp2 | a0001 | c0001 | t0001 | g0115 | AMR | PEL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01981 | hp1 | a0003 | c0008 | t0012 | g0289 | AMR | PEL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01981 | hp2 | a0001 | c0002 | t0002 | g0208 | AMR | PEL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01993 | hp1 | a0001 | c0001 | t0001 | g0083 | AMR | PEL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG01993 | hp2 | a0001 | c0001 | t0006 | g0190 | AMR | PEL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02004 | hp1 | a0001 | c0001 | t0001 | g0116 | AMR | PEL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02004 | hp2 | a0002 | c0003 | t0003 | g0044 | AMR | PEL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02015 | hp1 | a0002 | c0003 | t0016 | g0021 | EAS | KHV | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02015 | hp2 | a0001 | c0010 | t0005 | g0278 | EAS | KHV | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02027 | hp1 | a0001 | c0002 | t0002 | g0264 | EAS | KHV | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02027 | hp2 | a0001 | c0001 | t0001 | g0082 | EAS | KHV | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02055 | hp1 | a0001 | c0007 | t0005 | g0317 | AFR | ACB | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02055 | hp2 | a0001 | c0001 | t0001 | g0072 | AFR | ACB | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02056 | hp1 | a0001 | c0001 | t0001 | g0161 | EAS | KHV | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02056 | hp2 | a0001 | c0002 | t0002 | g0215 | EAS | KHV | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02071 | hp1 | a0001 | c0001 | t0010 | g0105 | EAS | KHV | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02071 | hp2 | a0002 | c0003 | t0003 | g0016 | EAS | KHV | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02074 | hp1 | a0002 | c0003 | t0003 | g0027 | EAS | KHV | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02074 | hp2 | a0001 | c0004 | t0004 | g0297 | EAS | KHV | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02080 | hp1 | a0001 | c0002 | t0002 | g0244 | EAS | KHV | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02080 | hp2 | a0001 | c0004 | t0050 | g0279 | EAS | KHV | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02083 | hp1 | a0001 | c0002 | t0002 | g0232 | EAS | KHV | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02083 | hp2 | a0001 | c0001 | t0010 | g0104 | EAS | KHV | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02129 | hp1 | a0001 | c0001 | t0001 | g0119 | EAS | KHV | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02129 | hp2 | a0001 | c0004 | t0004 | g0280 | EAS | KHV | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02145 | hp1 | a0001 | c0006 | t0005 | g0320 | AFR | ACB | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02145 | hp2 | a0001 | c0004 | t0015 | g0201 | AFR | ACB | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02148 | hp1 | a0001 | c0001 | t0013 | g0195 | AMR | PEL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02148 | hp2 | a0002 | c0003 | t0014 | g0038 | AMR | PEL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02155 | hp1 | a0001 | c0001 | t0001 | g0118 | EAS | CDX | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02155 | hp2 | a0001 | c0004 | t0004 | g0310 | EAS | CDX | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02257 | hp1 | a0001 | c0007 | t0005 | g0313 | AFR | ACB | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02257 | hp2 | a0001 | c0001 | t0001 | g0065 | AFR | ACB | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02258 | hp1 | a0001 | c0002 | t0044 | g0257 | AFR | ACB | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02258 | hp2 | a0002 | c0003 | t0004 | g0008 | AFR | ACB | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02280 | hp1 | a0011 | c0026 | t0042 | g0299 | AFR | ACB | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02280 | hp2 | a0002 | c0003 | t0003 | g0051 | AFR | ACB | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02300 | hp1 | a0001 | c0001 | t0001 | g0111 | AMR | PEL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02300 | hp2 | a0001 | c0001 | t0006 | g0192 | AMR | PEL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02572 | hp1 | a0003 | c0014 | t0029 | g0064 | AFR | GWD | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02572 | hp2 | a0003 | c0015 | t0041 | g0308 | AFR | GWD | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02602 | hp1 | a0001 | c0001 | t0024 | g0145 | SAS | PJL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02602 | hp2 | a0001 | c0002 | t0033 | g0266 | SAS | PJL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02615 | hp1 | a0005 | c0018 | t0026 | g0168 | AFR | GWD | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02615 | hp2 | a0001 | c0004 | t0022 | g0059 | AFR | GWD | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02622 | hp1 | a0005 | c0020 | t0008 | g0002 | AFR | GWD | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02622 | hp2 | a0001 | c0001 | t0006 | g0100 | AFR | GWD | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02683 | hp1 | a0001 | c0001 | t0013 | g0174 | SAS | PJL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02683 | hp2 | a0001 | c0001 | t0001 | g0140 | SAS | PJL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02698 | hp1 | a0001 | c0001 | t0010 | g0196 | SAS | PJL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02698 | hp2 | a0001 | c0002 | t0002 | g0213 | SAS | PJL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02717 | hp1 | a0001 | c0006 | t0008 | g0318 | AFR | GWD | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02717 | hp2 | a0001 | c0001 | t0001 | g0101 | AFR | GWD | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02723 | hp1 | a0001 | c0007 | t0005 | g0319 | AFR | GWD | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02723 | hp2 | a0001 | c0006 | t0008 | g0314 | AFR | GWD | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02735 | hp1 | a0001 | c0002 | t0002 | g0219 | SAS | PJL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02735 | hp2 | a0002 | c0003 | t0003 | g0028 | SAS | PJL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02809 | hp1 | a0001 | c0001 | t0001 | g0080 | AFR | GWD | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02809 | hp2 | a0001 | c0001 | t0001 | g0198 | AFR | GWD | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02818 | hp1 | a0002 | c0003 | t0003 | g0048 | AFR | GWD | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02818 | hp2 | a0001 | c0001 | t0001 | g0068 | AFR | GWD | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02886 | hp1 | a0001 | c0005 | t0005 | g0304 | AFR | GWD | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02886 | hp2 | a0001 | c0001 | t0001 | g0097 | AFR | GWD | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02896 | hp1 | a0004 | c0011 | t0009 | g0005 | AFR | GWD | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02896 | hp2 | a0003 | c0008 | t0012 | g0262 | AFR | GWD | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02897 | hp1 | a0003 | c0008 | t0037 | g0263 | AFR | GWD | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02897 | hp2 | a0001 | c0001 | t0001 | g0084 | AFR | GWD | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02922 | hp1 | a0001 | c0001 | t0006 | g0143 | AFR | ESN | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02922 | hp2 | a0001 | c0001 | t0001 | g0135 | AFR | ESN | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02965 | hp1 | a0001 | c0006 | t0004 | g0311 | AFR | ESN | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02965 | hp2 | a0001 | c0001 | t0001 | g0073 | AFR | ESN | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02970 | hp1 | a0001 | c0007 | t0005 | g0315 | AFR | ESN | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02970 | hp2 | a0001 | c0009 | t0017 | g0056 | AFR | ESN | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02976 | hp1 | a0001 | c0004 | t0003 | g0255 | AFR | ESN | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02976 | hp2 | a0001 | c0001 | t0001 | g0076 | AFR | ESN | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG03017 | hp1 | a0003 | c0024 | t0012 | g0290 | SAS | PJL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG03017 | hp2 | a0001 | c0004 | t0004 | g0267 | SAS | PJL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG03041 | hp1 | a0001 | c0005 | t0005 | g0307 | AFR | GWD | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG03041 | hp2 | a0001 | c0001 | t0006 | g0178 | AFR | GWD | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG03098 | hp1 | a0001 | c0005 | t0005 | g0301 | AFR | MSL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG03098 | hp2 | a0002 | c0003 | t0014 | g0009 | AFR | MSL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG03139 | hp1 | a0001 | c0006 | t0008 | g0321 | AFR | ESN | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG03139 | hp2 | a0001 | c0001 | t0001 | g0086 | AFR | ESN | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG03195 | hp1 | a0004 | c0011 | t0009 | g0003 | AFR | ESN | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG03195 | hp2 | a0001 | c0001 | t0001 | g0077 | AFR | ESN | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG03209 | hp1 | a0001 | c0004 | t0004 | g0199 | AFR | MSL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG03209 | hp2 | a0001 | c0005 | t0008 | g0202 | AFR | MSL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG03225 | hp1 | a0001 | c0001 | t0001 | g0134 | AFR | MSL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG03225 | hp2 | a0002 | c0003 | t0009 | g0007 | AFR | MSL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG03239 | hp1 | a0001 | c0001 | t0001 | g0169 | SAS | PJL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG03239 | hp2 | a0001 | c0004 | t0040 | g0293 | SAS | PJL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG03453 | hp1 | a0004 | c0011 | t0009 | g0004 | AFR | MSL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG03453 | hp2 | a0001 | c0001 | t0001 | g0098 | AFR | MSL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG03486 | hp1 | a0001 | c0005 | t0008 | g0203 | AFR | MSL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG03486 | hp2 | a0001 | c0006 | t0008 | g0322 | AFR | MSL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG03491 | hp1 | a0001 | c0004 | t0004 | g0258 | SAS | PJL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG03491 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG03492 | hp1 | a0001 | c0004 | t0009 | g0272 | SAS | PJL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG03492 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG03540 | hp1 | a0001 | c0001 | t0001 | g0136 | AFR | GWD | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG03540 | hp2 | a0001 | c0001 | t0001 | g0066 | AFR | GWD | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG03579 | hp1 | a0001 | c0005 | t0005 | g0306 | AFR | MSL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG03579 | hp2 | a0001 | c0004 | t0022 | g0060 | AFR | MSL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG03654 | hp1 | a0002 | c0016 | t0020 | g0010 | SAS | PJL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG03654 | hp2 | a0001 | c0001 | t0018 | g0095 | SAS | PJL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG03669 | hp1 | a0001 | c0001 | t0006 | g0182 | SAS | PJL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG03669 | hp2 | a0001 | c0002 | t0002 | g0295 | SAS | PJL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG03688 | hp1 | a0001 | c0001 | t0006 | g0177 | SAS | STU | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG03688 | hp2 | a0001 | c0001 | t0001 | g0137 | SAS | STU | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG03704 | hp1 | a0001 | c0001 | t0011 | g0172 | SAS | PJL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG03704 | hp2 | a0001 | c0001 | t0027 | g0094 | SAS | PJL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG03831 | hp1 | a0001 | c0002 | t0002 | g0225 | SAS | BEB | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG03831 | hp2 | a0001 | c0001 | t0013 | g0185 | SAS | BEB | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG03834 | hp1 | a0001 | c0001 | t0006 | g0180 | SAS | BEB | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG03834 | hp2 | a0001 | c0004 | t0004 | g0261 | SAS | BEB | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG03927 | hp1 | a0001 | c0001 | t0011 | g0092 | SAS | BEB | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG03927 | hp2 | a0001 | c0004 | t0015 | g0210 | SAS | BEB | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG04184 | hp1 | a0002 | c0003 | t0005 | g0024 | SAS | BEB | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG04184 | hp2 | a0001 | c0001 | t0013 | g0170 | SAS | BEB | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG04199 | hp1 | a0001 | c0001 | t0001 | g0126 | SAS | STU | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG04199 | hp2 | a0001 | c0004 | t0009 | g0214 | SAS | STU | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG04228 | hp1 | a0003 | c0008 | t0012 | g0294 | SAS | STU | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG04228 | hp2 | a0002 | c0016 | t0020 | g0006 | SAS | STU | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18522 | hp1 | a0007 | c0028 | t0003 | g0047 | AFR | YRI | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18522 | hp2 | a0001 | c0009 | t0017 | g0055 | AFR | YRI | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18612 | hp1 | a0002 | c0003 | t0003 | g0030 | EAS | CHB | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18612 | hp2 | a0001 | c0002 | t0002 | g0205 | EAS | CHB | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18906 | hp1 | a0001 | c0017 | t0006 | g0063 | AFR | YRI | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18906 | hp2 | a0001 | c0005 | t0036 | g0309 | AFR | YRI | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18940 | hp1 | a0001 | c0002 | t0002 | g0229 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18940 | hp2 | a0008 | c0027 | t0014 | g0273 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18941 | hp1 | a0001 | c0001 | t0001 | g0124 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18941 | hp2 | a0001 | c0002 | t0002 | g0254 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18943 | hp1 | a0001 | c0001 | t0001 | g0150 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18943 | hp2 | a0001 | c0004 | t0004 | g0268 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18944 | hp1 | a0001 | c0001 | t0001 | g0156 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18944 | hp2 | a0001 | c0002 | t0002 | g0207 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18945 | hp1 | a0001 | c0010 | t0005 | g0277 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18945 | hp2 | a0001 | c0001 | t0010 | g0106 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18946 | hp1 | a0001 | c0001 | t0018 | g0096 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18946 | hp2 | a0001 | c0002 | t0002 | g0216 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18947 | hp1 | a0001 | c0001 | t0001 | g0122 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18947 | hp2 | a0001 | c0002 | t0002 | g0218 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18949 | hp1 | a0001 | c0001 | t0007 | g0149 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18949 | hp2 | a0001 | c0002 | t0021 | g0249 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18950 | hp1 | a0001 | c0004 | t0005 | g0227 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18950 | hp2 | a0002 | c0003 | t0003 | g0033 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18954 | hp1 | a0001 | c0001 | t0001 | g0163 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18954 | hp2 | a0001 | c0002 | t0002 | g0230 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18959 | hp1 | a0002 | c0003 | t0003 | g0025 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18959 | hp2 | a0001 | c0002 | t0002 | g0260 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18960 | hp1 | a0002 | c0003 | t0003 | g0011 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18960 | hp2 | a0001 | c0004 | t0004 | g0284 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18961 | hp1 | a0001 | c0001 | t0001 | g0157 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18961 | hp2 | a0001 | c0002 | t0021 | g0256 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18962 | hp1 | a0001 | c0002 | t0002 | g0217 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18962 | hp2 | a0002 | c0003 | t0003 | g0037 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18966 | hp1 | a0001 | c0001 | t0001 | g0132 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18966 | hp2 | a0002 | c0003 | t0003 | g0019 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18968 | hp1 | a0001 | c0002 | t0002 | g0243 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18968 | hp2 | a0001 | c0013 | t0031 | g0129 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18970 | hp1 | a0001 | c0001 | t0001 | g0117 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18970 | hp2 | a0001 | c0002 | t0002 | g0242 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18971 | hp1 | a0001 | c0010 | t0004 | g0275 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18971 | hp2 | a0001 | c0002 | t0002 | g0248 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18972 | hp1 | a0002 | c0003 | t0003 | g0017 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18972 | hp2 | a0001 | c0001 | t0001 | g0151 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18975 | hp1 | a0002 | c0003 | t0014 | g0029 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18975 | hp2 | a0001 | c0001 | t0001 | g0160 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18977 | hp1 | a0001 | c0004 | t0005 | g0238 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18977 | hp2 | a0001 | c0001 | t0023 | g0128 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18978 | hp1 | a0001 | c0001 | t0007 | g0054 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18978 | hp2 | a0001 | c0002 | t0002 | g0212 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18979 | hp1 | a0001 | c0001 | t0001 | g0166 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18979 | hp2 | a0001 | c0004 | t0002 | g0298 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18980 | hp1 | a0001 | c0002 | t0002 | g0240 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18980 | hp2 | a0001 | c0001 | t0001 | g0123 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18983 | hp1 | a0001 | c0002 | t0002 | g0233 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18983 | hp2 | a0001 | c0004 | t0004 | g0276 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18986 | hp1 | a0001 | c0001 | t0001 | g0158 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA18986 | hp2 | a0002 | c0003 | t0005 | g0031 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA19001 | hp1 | a0002 | c0003 | t0003 | g0018 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA19001 | hp2 | a0001 | c0002 | t0002 | g0235 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA19002 | hp1 | a0002 | c0003 | t0016 | g0020 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA19002 | hp2 | a0001 | c0004 | t0004 | g0282 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA19004 | hp1 | a0002 | c0003 | t0003 | g0012 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA19004 | hp2 | a0001 | c0001 | t0001 | g0085 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA19005 | hp1 | a0001 | c0004 | t0004 | g0236 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA19005 | hp2 | a0001 | c0002 | t0002 | g0281 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA19007 | hp1 | a0001 | c0002 | t0002 | g0247 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA19007 | hp2 | a0001 | c0001 | t0001 | g0121 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA19009 | hp1 | a0001 | c0002 | t0002 | g0211 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA19009 | hp2 | a0001 | c0004 | t0004 | g0271 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA19010 | hp1 | a0001 | c0002 | t0002 | g0220 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA19010 | hp2 | a0002 | c0003 | t0003 | g0022 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA19011 | hp1 | a0001 | c0001 | t0001 | g0154 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA19011 | hp2 | a0001 | c0002 | t0002 | g0246 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA19012 | hp1 | a0002 | c0003 | t0003 | g0032 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA19012 | hp2 | a0001 | c0001 | t0001 | g0159 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA19030 | hp1 | a0001 | c0006 | t0015 | g0312 | AFR | LWK | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA19030 | hp2 | a0001 | c0021 | t0045 | g0049 | AFR | LWK | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA19054 | hp1 | a0001 | c0001 | t0001 | g0147 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA19054 | hp2 | a0001 | c0004 | t0004 | g0270 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA19055 | hp1 | a0001 | c0001 | t0001 | g0108 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA19055 | hp2 | a0001 | c0002 | t0043 | g0296 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA19063 | hp1 | a0002 | c0003 | t0003 | g0039 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA19063 | hp2 | a0001 | c0002 | t0002 | g0221 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA19065 | hp1 | a0001 | c0002 | t0002 | g0231 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA19065 | hp2 | a0002 | c0003 | t0003 | g0040 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA19067 | hp1 | a0001 | c0004 | t0004 | g0283 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA19067 | hp2 | a0001 | c0001 | t0010 | g0102 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA19075 | hp1 | a0001 | c0004 | t0015 | g0206 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA19075 | hp2 | a0001 | c0002 | t0002 | g0287 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA19081 | hp1 | a0001 | c0001 | t0001 | g0153 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA19081 | hp2 | a0001 | c0002 | t0032 | g0209 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA19082 | hp1 | a0001 | c0001 | t0001 | g0155 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA19082 | hp2 | a0001 | c0004 | t0004 | g0288 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA19084 | hp1 | a0002 | c0003 | t0003 | g0013 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA19084 | hp2 | a0001 | c0001 | t0001 | g0127 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA19087 | hp1 | a0001 | c0001 | t0001 | g0152 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA19087 | hp2 | a0001 | c0004 | t0004 | g0285 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA19088 | hp1 | a0001 | c0002 | t0002 | g0234 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA19088 | hp2 | a0001 | c0001 | t0001 | g0110 | EAS | JPT | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA19240 | hp1 | a0001 | c0009 | t0017 | g0057 | AFR | YRI | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA19240 | hp2 | a0001 | c0005 | t0005 | g0300 | AFR | YRI | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA20129 | hp1 | a0001 | c0001 | t0001 | g0075 | AFR | ASW | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA20129 | hp2 | a0003 | c0012 | t0048 | g0062 | AFR | ASW | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA20752 | hp1 | a0001 | c0001 | t0011 | g0184 | EUR | TSI | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA20752 | hp2 | a0001 | c0001 | t0001 | g0069 | EUR | TSI | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA20905 | hp1 | a0001 | c0001 | t0011 | g0183 | SAS | GIH | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA20905 | hp2 | a0001 | c0001 | t0001 | g0133 | SAS | GIH | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02109 | hp1 | a0001 | c0001 | t0006 | g0176 | AFR | ACB | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02109 | hp2 | a0001 | c0005 | t0005 | g0303 | AFR | ACB | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02486 | hp1 | a0001 | c0002 | t0002 | g0226 | AFR | ACB | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02486 | hp2 | a0001 | c0001 | t0019 | g0167 | AFR | ACB | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02559 | hp1 | a0001 | c0001 | t0001 | g0079 | AFR | ACB | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG02559 | hp2 | a0003 | c0022 | t0046 | g0050 | AFR | ACB | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG03471 | hp1 | a0001 | c0013 | t0019 | g0081 | AFR | MSL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| HG03471 | hp2 | a0003 | c0012 | t0049 | g0061 | AFR | MSL | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA20300 | hp1 | a0001 | c0001 | t0007 | g0078 | AFR | USA | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA20300 | hp2 | a0001 | c0005 | t0005 | g0302 | AFR | USA | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA21309 | hp1 | a0002 | c0003 | t0003 | g0036 | AFR | LWK | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| NA21309 | hp2 | a0006 | c0029 | t0039 | g0052 | AFR | LWK | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0001 | g0197 | REF | REF | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| homoSapiens_grch38 | hp1 | a0001 | c0001 | t0001 | g0074 | REF | REF | CCDC30_chr1_42458286_42662190 | CCDC30 | chr1 | 42458286 | 42662190 |
| chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:42497129
|
A | T | 4 | a0002a0004a0006others(1): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
missense_variant | MODERATE | c.273A>T | p.Gln91His | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 5/21 | 977/6683 | 273/2817 | 91/938 | chr1 | 42497129 | ||
| chr1:42497175
|
C | T | 1 | a0008 | 1 | NA18940.hp2 | stop_gained | HIGH | c.319C>T | p.Arg107* | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 5/21 | 1023/6683 | 319/2817 | 107/938 | chr1 | 42497175 | ||
| chr1:42539202
|
A | G | 1 | a0011 | 1 | HG02280.hp1 | missense_variant | MODERATE | c.612A>G | p.Ile204Met | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/21 | 1316/6683 | 612/2817 | 204/938 | chr1 | 42539202 | ||
| chr1:42539249
|
A | G | 1 | a0010 | 1 | HG00408.hp2 | missense_variant | MODERATE | c.659A>G | p.Lys220Arg | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/21 | 1363/6683 | 659/2817 | 220/938 | chr1 | 42539249 | ||
| chr1:42577096
|
A | G | 2 | a0004a0006 | 4 | HG02896.hp1 HG03195.hp1 HG03453.hp1 others(1): Show |
missense_variant | MODERATE | c.1397A>G | p.Tyr466Cys | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/21 | 2101/6683 | 1397/2817 | 466/938 | chr1 | 42577096 | ||
| chr1:42581373
|
A | G | 1 | a0007 | 1 | NA18522.hp1 | missense_variant | MODERATE | c.1544A>G | p.Gln515Arg | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/21 | 2248/6683 | 1544/2817 | 515/938 | chr1 | 42581373 | ||
| chr1:42589365
|
G | A | 1 | a0009 | 1 | HG00099.hp2 | missense_variant | MODERATE | c.1730G>A | p.Arg577Lys | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/21 | 2434/6683 | 1730/2817 | 577/938 | chr1 | 42589365 | ||
| chr1:42644738
|
T | A | 1 | a0005 | 2 | HG02615.hp1 HG02622.hp1 |
missense_variant | MODERATE | c.2286T>A | p.Ser762Arg | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 18/21 | 2990/6683 | 2286/2817 | 762/938 | chr1 | 42644738 | ||
| chr1:42653990
|
C | A | 3 | a0003a0006a0011 | 15 | HG00639.hp2 HG01167.hp2 HG01243.hp1 others(12): Show |
missense_variant | MODERATE | c.2779C>A | p.His927Asn | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 21/21 | 3483/6683 | 2779/2817 | 927/938 | chr1 | 42653990 |
| chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:42497141
|
G | A | 1 | a0001c0017 | 1 | NA18906.hp1 | synonymous_variant | LOW | c.285G>A | p.Leu95Leu | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 5/21 | 989/6683 | 285/2817 | 95/938 | chr1 | 42497141 | ||
| chr1:42556336
|
G | A | 2 | a0001c0009a0003c0012 | 6 | HG01891.hp2 HG02970.hp2 HG03471.hp2 others(3): Show |
synonymous_variant | LOW | c.1071G>A | p.Leu357Leu | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/21 | 1775/6683 | 1071/2817 | 357/938 | chr1 | 42556336 | ||
| chr1:42577032
|
C | T | 9 | a0001c0002a0001c0004a0001c0010others(6): Show | 103 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(100): Show |
synonymous_variant | LOW | c.1333C>T | p.Leu445Leu | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/21 | 2037/6683 | 1333/2817 | 445/938 | chr1 | 42577032 | ||
| chr1:42581386
|
A | G | 5 | a0001c0002a0001c0004a0003c0008others(2): Show | 96 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(93): Show |
synonymous_variant | LOW | c.1557A>G | p.Glu519Glu | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/21 | 2261/6683 | 1557/2817 | 519/938 | chr1 | 42581386 | ||
| chr1:42589469
|
A | C | 5 | a0001c0005a0001c0006a0001c0007others(2): Show | 26 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(23): Show |
synonymous_variant | LOW | c.1834A>C | p.Arg612Arg | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/21 | 2538/6683 | 1834/2817 | 612/938 | chr1 | 42589469 | ||
| chr1:42610983
|
C | T | 6 | a0001c0005a0001c0007a0001c0019others(3): Show | 22 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(19): Show |
synonymous_variant | LOW | c.1854C>T | p.Val618Val | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/21 | 2558/6683 | 1854/2817 | 618/938 | chr1 | 42610983 | ||
| chr1:42642517
|
G | A | 4 | a0001c0002a0001c0013a0001c0021others(1): Show | 57 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(54): Show |
synonymous_variant | LOW | c.2148G>A | p.Leu716Leu | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 17/21 | 2852/6683 | 2148/2817 | 716/938 | chr1 | 42642517 | ||
| chr1:42642544
|
G | A | 1 | a0003c0024 | 1 | HG03017.hp1 | synonymous_variant | LOW | c.2175G>A | p.Glu725Glu | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 17/21 | 2879/6683 | 2175/2817 | 725/938 | chr1 | 42642544 | ||
| chr1:42646182
|
G | A | 1 | a0001c0007 | 6 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(3): Show |
synonymous_variant | LOW | c.2403G>A | p.Leu801Leu | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/21 | 3107/6683 | 2403/2817 | 801/938 | chr1 | 42646182 |
| chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:42463307
|
T | C | 1 | a0001c0001t0023 | 1 | NA18977.hp2 | 5_prime_UTR_variant | MODIFIER | c.-683T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/21 | 17245 | chr1 | 42463307 | |||||
| chr1:42463308
|
A | C | 52 | a0001c0002t0002a0001c0002t0021a0001c0002t0032others(49): Show | 185 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(182): Show |
5_prime_UTR_variant | MODIFIER | c.-682A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/21 | 17244 | chr1 | 42463308 | |||||
| chr1:42463363
|
G | C | 1 | a0001c0002t0032 | 1 | NA19081.hp2 | 5_prime_UTR_variant | MODIFIER | c.-627G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/21 | 17189 | chr1 | 42463363 | |||||
| chr1:42463459
|
A | C | 52 | a0001c0002t0002a0001c0002t0021a0001c0002t0032others(49): Show | 185 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(182): Show |
5_prime_UTR_variant | MODIFIER | c.-531A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/21 | 17093 | chr1 | 42463459 | |||||
| chr1:42463688
|
G | T | 1 | a0001c0004t0050 | 1 | HG02080.hp2 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-302G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/21 | chr1 | 42463688 | ||||||
| chr1:42463809
|
A | AT | 5 | a0001c0004t0022a0001c0009t0017a0001c0009t0047others(2): Show | 8 | HG01891.hp2 HG02615.hp2 HG02970.hp2 others(5): Show |
5_prime_UTR_variant | MODIFIER | c.-173dupT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/21 | 16734 | INFO_REALIGN_3_PRIME | chr1 | 42463809 | ||||
| chr1:42463817
|
T | G | 1 | a0001c0001t0024 | 1 | HG02602.hp1 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-173T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/21 | chr1 | 42463817 | ||||||
| chr1:42463830
|
T | C | 1 | a0001c0002t0033 | 1 | HG02602.hp2 | 5_prime_UTR_variant | MODIFIER | c.-160T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/21 | 16722 | chr1 | 42463830 | |||||
| chr1:42480531
|
C | T | 2 | a0001c0021t0045a0003c0022t0046 | 2 | HG02559.hp2 NA19030.hp2 |
5_prime_UTR_variant | MODIFIER | c.-21C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 2/21 | 21 | chr1 | 42480531 | |||||
| chr1:42654184
|
A | C | 9 | a0001c0002t0002a0001c0002t0021a0001c0002t0032others(6): Show | 56 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(53): Show |
3_prime_UTR_variant | MODIFIER | c.*156A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 21/21 | 156 | chr1 | 42654184 | |||||
| chr1:42654291
|
A | G | 1 | a0001c0001t0030 | 1 | HG00423.hp1 | 3_prime_UTR_variant | MODIFIER | c.*263A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 21/21 | 263 | chr1 | 42654291 | |||||
| chr1:42654542
|
A | G | 1 | a0002c0016t0020 | 2 | HG03654.hp1 HG04228.hp2 |
3_prime_UTR_variant | MODIFIER | c.*514A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 21/21 | 514 | chr1 | 42654542 | |||||
| chr1:42654584
|
A | G | 4 | a0003c0014t0029a0003c0015t0041a0003c0022t0046others(1): Show | 4 | HG02280.hp1 HG02559.hp2 HG02572.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*556A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 21/21 | 556 | chr1 | 42654584 | |||||
| chr1:42654713
|
T | C | 8 | a0001c0001t0010a0001c0004t0003a0002c0003t0003others(5): Show | 47 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(44): Show |
3_prime_UTR_variant | MODIFIER | c.*685T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 21/21 | 685 | chr1 | 42654713 | |||||
| chr1:42654741
|
C | T | 1 | a0001c0009t0017 | 3 | HG02970.hp2 NA18522.hp2 NA19240.hp1 |
3_prime_UTR_variant | MODIFIER | c.*713C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 21/21 | 713 | chr1 | 42654741 | |||||
| chr1:42654862
|
G | A | 1 | a0001c0001t0025 | 1 | HG01081.hp2 | 3_prime_UTR_variant | MODIFIER | c.*834G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 21/21 | 834 | chr1 | 42654862 | |||||
| chr1:42655150
|
G | A | 4 | a0001c0005t0008a0001c0006t0008a0005c0018t0026others(1): Show | 8 | HG02615.hp1 HG02622.hp1 HG02717.hp1 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*1122G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 21/21 | 1122 | chr1 | 42655150 | |||||
| chr1:42655199
|
A | G | 1 | a0001c0021t0045 | 1 | NA19030.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1171A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 21/21 | 1171 | chr1 | 42655199 | |||||
| chr1:42655267
|
C | T | 1 | a0001c0004t0040 | 1 | HG03239.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1239C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 21/21 | 1239 | chr1 | 42655267 | |||||
| chr1:42655462
|
A | G | 54 | a0001c0001t0006a0001c0001t0010a0001c0001t0011others(51): Show | 200 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(197): Show |
3_prime_UTR_variant | MODIFIER | c.*1434A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 21/21 | 1434 | chr1 | 42655462 | |||||
| chr1:42655472
|
G | C | 1 | a0002c0003t0034 | 1 | HG01516.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1444G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 21/21 | 1444 | chr1 | 42655472 | |||||
| chr1:42655596
|
A | G | 1 | a0001c0002t0044 | 1 | HG02258.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1568A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 21/21 | 1568 | chr1 | 42655596 | |||||
| chr1:42655649
|
A | G | 11 | a0003c0008t0012a0003c0008t0037a0003c0012t0048others(8): Show | 14 | HG01167.hp2 HG01243.hp1 HG01981.hp1 others(11): Show |
3_prime_UTR_variant | MODIFIER | c.*1621A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 21/21 | 1621 | chr1 | 42655649 | |||||
| chr1:42655836
|
G | A | 12 | a0003c0008t0012a0003c0008t0037a0003c0012t0048others(9): Show | 15 | HG00639.hp2 HG01167.hp2 HG01243.hp1 others(12): Show |
3_prime_UTR_variant | MODIFIER | c.*1808G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 21/21 | 1808 | chr1 | 42655836 | |||||
| chr1:42655841
|
C | A | 4 | a0001c0005t0008a0001c0006t0008a0005c0018t0026others(1): Show | 8 | HG02615.hp1 HG02622.hp1 HG02717.hp1 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*1813C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 21/21 | 1813 | chr1 | 42655841 | |||||
| chr1:42655867
|
C | CT | 22 | a0001c0001t0006a0001c0001t0007a0001c0001t0023others(19): Show | 67 | HG00099.hp1 HG00438.hp1 HG00544.hp2 others(64): Show |
3_prime_UTR_variant | MODIFIER | c.*1863dupT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 21/21 | 1864 | INFO_REALIGN_3_PRIME | chr1 | 42655867 | ||||
| chr1:42655867
|
C | CTT | 4 | a0001c0001t0011a0001c0004t0015a0001c0006t0015others(1): Show | 10 | HG01515.hp1 HG02145.hp2 HG03471.hp2 others(7): Show |
3_prime_UTR_variant | MODIFIER | c.*1862_*1863dupTT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 21/21 | 1864 | INFO_REALIGN_3_PRIME | chr1 | 42655867 | ||||
| chr1:42655867
|
CT | C | 13 | a0001c0001t0018a0001c0001t0019a0001c0002t0002others(10): Show | 62 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(59): Show |
3_prime_UTR_variant | MODIFIER | c.*1863delT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 21/21 | 1863 | INFO_REALIGN_3_PRIME | chr1 | 42655867 | ||||
| chr1:42655867
|
CTT | C | 6 | a0001c0001t0027a0001c0002t0043a0001c0005t0008others(3): Show | 10 | HG02615.hp1 HG02622.hp1 HG02717.hp1 others(7): Show |
3_prime_UTR_variant | MODIFIER | c.*1862_*1863delTT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 21/21 | 1862 | INFO_REALIGN_3_PRIME | chr1 | 42655867 | ||||
| chr1:42656055
|
A | C | 12 | a0001c0001t0019a0001c0002t0002a0001c0002t0021others(9): Show | 59 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(56): Show |
3_prime_UTR_variant | MODIFIER | c.*2027A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 21/21 | 2027 | chr1 | 42656055 | |||||
| chr1:42656073
|
A | G | 4 | a0001c0005t0008a0001c0006t0008a0005c0018t0026others(1): Show | 8 | HG02615.hp1 HG02622.hp1 HG02717.hp1 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*2045A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 21/21 | 2045 | chr1 | 42656073 | |||||
| chr1:42656415
|
G | C | 12 | a0003c0008t0012a0003c0008t0037a0003c0012t0048others(9): Show | 15 | HG00639.hp2 HG01167.hp2 HG01243.hp1 others(12): Show |
3_prime_UTR_variant | MODIFIER | c.*2387G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 21/21 | 2387 | chr1 | 42656415 | |||||
| chr1:42656459
|
T | A | 3 | a0003c0012t0048a0003c0012t0049a0003c0015t0038 | 3 | HG01167.hp2 HG03471.hp2 NA20129.hp2 |
3_prime_UTR_variant | MODIFIER | c.*2431T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 21/21 | 2431 | chr1 | 42656459 | |||||
| chr1:42656505
|
C | G | 1 | a0001c0005t0036 | 1 | NA18906.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2477C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 21/21 | 2477 | chr1 | 42656505 | |||||
| chr1:42656571
|
C | A | 3 | a0003c0008t0012a0003c0008t0037a0003c0024t0012 | 6 | HG01243.hp1 HG01981.hp1 HG02896.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*2543C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 21/21 | 2543 | chr1 | 42656571 | |||||
| chr1:42656645
|
T | A | 2 | a0003c0014t0029a0003c0022t0046 | 2 | HG02559.hp2 HG02572.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2617T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 21/21 | 2617 | chr1 | 42656645 | |||||
| chr1:42656999
|
C | T | 1 | a0003c0014t0028 | 1 | HG00639.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2971C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 21/21 | 2971 | chr1 | 42656999 |
| chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:42464087
|
A | G | 13 | a0001c0006t0004g0311a0001c0006t0005g0320a0001c0006t0008g0314others(10): Show | 13 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(10): Show |
intron_variant | MODIFIER | c.-92+189A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42464087 | ||||||
| chr1:42464216
|
T | C | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-92+318T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42464216 | ||||||
| chr1:42464283
|
G | T | 1 | a0001c0004t0004g0310 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.-92+385G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42464283 | ||||||
| chr1:42464495
|
C | A | 51 | a0001c0021t0045g0049a0002c0003t0003g0011a0002c0003t0003g0012others(48): Show | 51 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(48): Show |
intron_variant | MODIFIER | c.-92+597C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42464495 | ||||||
| chr1:42464499
|
T | C | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.-92+601T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42464499 | ||||||
| chr1:42464806
|
G | A | 1 | a0001c0001t0007g0054 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.-92+908G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42464806 | ||||||
| chr1:42464807
|
C | A | 1 | a0001c0001t0007g0054 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.-92+909C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42464807 | ||||||
| chr1:42464881
|
C | T | 10 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(7): Show | 10 | HG01167.hp2 HG02109.hp2 HG02572.hp2 others(7): Show |
intron_variant | MODIFIER | c.-92+983C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42464881 | ||||||
| chr1:42464987
|
A | C | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-92+1089A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42464987 | ||||||
| chr1:42465004
|
A | C | 177 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(174): Show | 177 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(174): Show |
intron_variant | MODIFIER | c.-92+1106A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42465004 | ||||||
| chr1:42465276
|
G | A | 8 | a0001c0004t0022g0059a0001c0004t0022g0060a0001c0009t0017g0055others(5): Show | 8 | HG01891.hp2 HG02615.hp2 HG02970.hp2 others(5): Show |
intron_variant | MODIFIER | c.-92+1378G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42465276 | ||||||
| chr1:42465276
|
G | C | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.-92+1378G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42465276 | ||||||
| chr1:42465297
|
T | C | 3 | a0001c0004t0004g0199a0001c0004t0004g0200a0001c0004t0015g0201 | 3 | HG01069.hp2 HG02145.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.-92+1399T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42465297 | ||||||
| chr1:42465373
|
G | GTTTT | 13 | a0001c0006t0004g0311a0001c0006t0005g0320a0001c0006t0008g0314others(10): Show | 13 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(10): Show |
intron_variant | MODIFIER | c.-92+1476_-92+1479d others(6): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | 42465373 | |||||
| chr1:42465450
|
C | T | 1 | a0001c0001t0001g0198 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.-92+1552C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42465450 | ||||||
| chr1:42465463
|
C | T | 1 | a0002c0003t0003g0053 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.-92+1565C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42465463 | ||||||
| chr1:42465563
|
C | T | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.-92+1665C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42465563 | ||||||
| chr1:42465634
|
G | T | 1 | a0006c0029t0039g0052 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-92+1736G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42465634 | ||||||
| chr1:42465654
|
G | T | 125 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(122): Show | 125 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(122): Show |
intron_variant | MODIFIER | c.-92+1756G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42465654 | ||||||
| chr1:42465656
|
T | C | 177 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(174): Show | 177 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(174): Show |
intron_variant | MODIFIER | c.-92+1758T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42465656 | ||||||
| chr1:42465668
|
A | G | 1 | a0002c0003t0003g0051 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.-92+1770A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42465668 | ||||||
| chr1:42465737
|
G | A | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.-92+1839G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42465737 | ||||||
| chr1:42465863
|
G | A | 177 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(174): Show | 177 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(174): Show |
intron_variant | MODIFIER | c.-92+1965G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42465863 | ||||||
| chr1:42466194
|
C | G | 1 | a0006c0029t0039g0052 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-92+2296C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42466194 | ||||||
| chr1:42466227
|
C | T | 1 | a0001c0001t0001g0197 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-92+2329C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42466227 | ||||||
| chr1:42466310
|
T | C | 1 | a0001c0017t0006g0063 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.-92+2412T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42466310 | ||||||
| chr1:42466557
|
GT | G | 181 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(178): Show | 181 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(178): Show |
intron_variant | MODIFIER | c.-92+2671delT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | 42466557 | |||||
| chr1:42466579
|
C | A | 1 | a0003c0014t0029g0064 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.-92+2681C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42466579 | ||||||
| chr1:42466644
|
C | T | 1 | a0001c0004t0004g0297 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.-92+2746C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42466644 | ||||||
| chr1:42466654
|
C | T | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-92+2756C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42466654 | ||||||
| chr1:42466661
|
C | T | 1 | a0001c0002t0043g0296 | 1 | NA19055.hp2 | intron_variant | MODIFIER | c.-92+2763C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42466661 | ||||||
| chr1:42466665
|
C | T | 27 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(24): Show | 27 | HG00099.hp1 HG00741.hp2 HG01071.hp2 others(24): Show |
intron_variant | MODIFIER | c.-92+2767C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42466665 | ||||||
| chr1:42466910
|
C | T | 2 | a0001c0021t0045g0049a0003c0022t0046g0050 | 2 | HG02559.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.-92+3012C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42466910 | ||||||
| chr1:42466942
|
A | C | 1 | a0001c0005t0036g0309 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.-92+3044A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42466942 | ||||||
| chr1:42466992
|
C | T | 1 | a0001c0001t0001g0169 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.-92+3094C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42466992 | ||||||
| chr1:42467101
|
C | T | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.-92+3203C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42467101 | ||||||
| chr1:42467213
|
G | A | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.-92+3315G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42467213 | ||||||
| chr1:42467235
|
A | G | 1 | a0001c0002t0002g0295 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.-92+3337A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42467235 | ||||||
| chr1:42467320
|
A | G | 39 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(36): Show | 39 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(36): Show |
intron_variant | MODIFIER | c.-92+3422A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42467320 | ||||||
| chr1:42467372
|
A | C | 125 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(122): Show | 125 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(122): Show |
intron_variant | MODIFIER | c.-92+3474A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42467372 | ||||||
| chr1:42467376
|
C | T | 1 | a0003c0022t0046g0050 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.-92+3478C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42467376 | ||||||
| chr1:42467458
|
TAGA | T | 6 | a0001c0004t0003g0291a0001c0004t0009g0292a0001c0004t0040g0293others(3): Show | 6 | HG01167.hp1 HG01169.hp2 HG01981.hp1 others(3): Show |
intron_variant | MODIFIER | c.-92+3562_-92+3564d others(5): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | 42467458 | |||||
| chr1:42467811
|
T | C | 3 | a0001c0001t0001g0065a0001c0001t0001g0066a0003c0014t0028g0067 | 3 | HG00639.hp2 HG02257.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.-92+3913T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42467811 | ||||||
| chr1:42468235
|
C | T | 27 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(24): Show | 27 | HG00099.hp1 HG00741.hp2 HG01071.hp2 others(24): Show |
intron_variant | MODIFIER | c.-92+4337C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42468235 | ||||||
| chr1:42468398
|
A | G | 99 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(96): Show | 99 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(96): Show |
intron_variant | MODIFIER | c.-92+4500A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42468398 | ||||||
| chr1:42468411
|
G | A | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.-92+4513G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42468411 | ||||||
| chr1:42468432
|
GT | G | 15 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0006t0004g0311others(12): Show | 15 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(12): Show |
intron_variant | MODIFIER | c.-92+4537delT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | 42468432 | |||||
| chr1:42468635
|
T | G | 13 | a0001c0006t0004g0311a0001c0006t0005g0320a0001c0006t0008g0314others(10): Show | 13 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(10): Show |
intron_variant | MODIFIER | c.-92+4737T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42468635 | ||||||
| chr1:42468843
|
C | T | 177 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(174): Show | 177 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(174): Show |
intron_variant | MODIFIER | c.-92+4945C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42468843 | ||||||
| chr1:42468984
|
A | G | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.-92+5086A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42468984 | ||||||
| chr1:42469170
|
G | A | 1 | a0001c0002t0002g0204 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.-92+5272G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42469170 | ||||||
| chr1:42469489
|
G | C | 8 | a0001c0004t0022g0059a0001c0004t0022g0060a0001c0009t0017g0055others(5): Show | 8 | HG01891.hp2 HG02615.hp2 HG02970.hp2 others(5): Show |
intron_variant | MODIFIER | c.-92+5591G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42469489 | ||||||
| chr1:42469518
|
T | A | 1 | a0002c0003t0003g0011 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.-92+5620T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42469518 | ||||||
| chr1:42469754
|
G | A | 2 | a0001c0021t0045g0049a0003c0022t0046g0050 | 2 | HG02559.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.-92+5856G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42469754 | ||||||
| chr1:42469924
|
C | T | 1 | a0005c0018t0026g0168 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.-92+6026C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42469924 | ||||||
| chr1:42470004
|
A | G | 45 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(42): Show | 45 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(42): Show |
intron_variant | MODIFIER | c.-92+6106A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42470004 | ||||||
| chr1:42470137
|
C | T | 5 | a0001c0006t0005g0320a0001c0006t0008g0318a0001c0006t0008g0321others(2): Show | 5 | HG02145.hp1 HG02717.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.-92+6239C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42470137 | ||||||
| chr1:42470144
|
G | A | 2 | a0002c0003t0003g0012a0002c0003t0003g0013 | 2 | NA19004.hp1 NA19084.hp1 |
intron_variant | MODIFIER | c.-92+6246G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42470144 | ||||||
| chr1:42470193
|
T | A | 99 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(96): Show | 99 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(96): Show |
intron_variant | MODIFIER | c.-92+6295T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42470193 | ||||||
| chr1:42470292
|
A | AT | 298 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(295): Show | 299 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(296): Show |
intron_variant | MODIFIER | c.-92+6404dupT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | 42470292 | |||||
| chr1:42470405
|
A | G | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.-92+6507A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42470405 | ||||||
| chr1:42470496
|
A | G | 177 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(174): Show | 177 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(174): Show |
intron_variant | MODIFIER | c.-92+6598A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42470496 | ||||||
| chr1:42470522
|
A | G | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-92+6624A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42470522 | ||||||
| chr1:42470599
|
A | G | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.-92+6701A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42470599 | ||||||
| chr1:42470649
|
G | A | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.-92+6751G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42470649 | ||||||
| chr1:42470736
|
G | A | 51 | a0001c0021t0045g0049a0002c0003t0003g0011a0002c0003t0003g0012others(48): Show | 51 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(48): Show |
intron_variant | MODIFIER | c.-92+6838G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42470736 | ||||||
| chr1:42470967
|
A | G | 1 | a0001c0001t0010g0196 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.-92+7069A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42470967 | ||||||
| chr1:42471078
|
C | T | 1 | a0002c0016t0020g0010 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.-92+7180C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42471078 | ||||||
| chr1:42471188
|
C | T | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.-92+7290C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42471188 | ||||||
| chr1:42471202
|
C | T | 2 | a0001c0001t0011g0194a0001c0001t0013g0195 | 2 | HG01515.hp1 HG02148.hp1 |
intron_variant | MODIFIER | c.-92+7304C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42471202 | ||||||
| chr1:42471219
|
A | G | 2 | a0001c0021t0045g0049a0003c0022t0046g0050 | 2 | HG02559.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.-92+7321A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42471219 | ||||||
| chr1:42471228
|
T | A | 2 | a0001c0006t0004g0311a0001c0006t0015g0312 | 2 | HG02965.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.-92+7330T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42471228 | ||||||
| chr1:42471292
|
C | T | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.-92+7394C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42471292 | ||||||
| chr1:42471294
|
T | A | 125 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(122): Show | 125 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(122): Show |
intron_variant | MODIFIER | c.-92+7396T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42471294 | ||||||
| chr1:42471368
|
C | A | 1 | a0001c0001t0001g0082 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.-92+7470C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42471368 | ||||||
| chr1:42471425
|
A | G | 1 | a0001c0013t0019g0081 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.-92+7527A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42471425 | ||||||
| chr1:42471576
|
A | C | 4 | a0001c0004t0022g0059a0001c0004t0022g0060a0003c0012t0048g0062others(1): Show | 4 | HG02615.hp2 HG03471.hp2 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.-92+7678A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42471576 | ||||||
| chr1:42471685
|
C | T | 8 | a0001c0004t0022g0059a0001c0004t0022g0060a0001c0009t0017g0055others(5): Show | 8 | HG01891.hp2 HG02615.hp2 HG02970.hp2 others(5): Show |
intron_variant | MODIFIER | c.-92+7787C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42471685 | ||||||
| chr1:42471711
|
T | C | 9 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(6): Show | 9 | HG01167.hp2 HG02109.hp2 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.-92+7813T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42471711 | ||||||
| chr1:42471776
|
G | A | 1 | a0001c0005t0036g0309 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.-92+7878G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42471776 | ||||||
| chr1:42471889
|
C | CT | 177 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(174): Show | 177 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(174): Show |
intron_variant | MODIFIER | c.-92+7995dupT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | 42471889 | |||||
| chr1:42472171
|
T | G | 51 | a0001c0021t0045g0049a0002c0003t0003g0011a0002c0003t0003g0012others(48): Show | 51 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(48): Show |
intron_variant | MODIFIER | c.-92+8273T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42472171 | ||||||
| chr1:42472210
|
A | G | 8 | a0001c0004t0022g0059a0001c0004t0022g0060a0001c0009t0017g0055others(5): Show | 8 | HG01891.hp2 HG02615.hp2 HG02970.hp2 others(5): Show |
intron_variant | MODIFIER | c.-91-8251A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42472210 | ||||||
| chr1:42472252
|
C | A | 2 | a0001c0021t0045g0049a0003c0022t0046g0050 | 2 | HG02559.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.-91-8209C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42472252 | ||||||
| chr1:42472355
|
A | G | 24 | a0001c0002t0002g0281a0001c0002t0002g0287a0001c0004t0004g0267others(21): Show | 24 | HG00438.hp1 HG00673.hp1 HG01074.hp2 others(21): Show |
intron_variant | MODIFIER | c.-91-8106A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42472355 | ||||||
| chr1:42472384
|
A | G | 1 | a0001c0001t0019g0167 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.-91-8077A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42472384 | ||||||
| chr1:42472669
|
A | C | 1 | a0001c0001t0001g0166 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.-91-7792A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42472669 | ||||||
| chr1:42472739
|
C | T | 1 | a0001c0017t0006g0063 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.-91-7722C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42472739 | ||||||
| chr1:42472851
|
C | T | 1 | a0001c0001t0007g0165 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.-91-7610C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42472851 | ||||||
| chr1:42472899
|
C | A | 1 | a0001c0004t0022g0059 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.-91-7562C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42472899 | ||||||
| chr1:42473041
|
G | C | 10 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(7): Show | 10 | HG01167.hp2 HG02109.hp2 HG02572.hp2 others(7): Show |
intron_variant | MODIFIER | c.-91-7420G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42473041 | ||||||
| chr1:42473350
|
C | G | 46 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(43): Show | 46 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(43): Show |
intron_variant | MODIFIER | c.-91-7111C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42473350 | ||||||
| chr1:42473431
|
CT | C | 28 | a0001c0001t0001g0083a0001c0001t0001g0175a0001c0001t0006g0171others(25): Show | 28 | HG00099.hp1 HG00741.hp2 HG01071.hp2 others(25): Show |
intron_variant | MODIFIER | c.-91-7019delT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | 42473431 | |||||
| chr1:42473493
|
A | G | 10 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(7): Show | 10 | HG01167.hp2 HG02109.hp2 HG02572.hp2 others(7): Show |
intron_variant | MODIFIER | c.-91-6968A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42473493 | ||||||
| chr1:42473498
|
A | T | 1 | a0001c0002t0033g0266 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.-91-6963A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42473498 | ||||||
| chr1:42473725
|
A | C | 1 | a0001c0001t0001g0164 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.-91-6736A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42473725 | ||||||
| chr1:42473791
|
A | G | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-91-6670A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42473791 | ||||||
| chr1:42473910
|
G | A | 1 | a0001c0002t0002g0205 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.-91-6551G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42473910 | ||||||
| chr1:42473931
|
G | A | 1 | a0006c0029t0039g0052 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-91-6530G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42473931 | ||||||
| chr1:42473969
|
A | AT | 137 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(134): Show | 137 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(134): Show |
intron_variant | MODIFIER | c.-91-6482dupT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | 42473969 | |||||
| chr1:42473969
|
A | T | 1 | a0003c0008t0012g0265 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.-91-6492A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42473969 | ||||||
| chr1:42474077
|
G | A | 1 | a0001c0001t0001g0084 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.-91-6384G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42474077 | ||||||
| chr1:42474272
|
T | C | 313 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(310): Show | 314 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(311): Show |
intron_variant | MODIFIER | c.-91-6189T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42474272 | ||||||
| chr1:42474313
|
T | C | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-91-6148T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42474313 | ||||||
| chr1:42474449
|
A | T | 125 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(122): Show | 125 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(122): Show |
intron_variant | MODIFIER | c.-91-6012A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42474449 | ||||||
| chr1:42474482
|
T | C | 313 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(310): Show | 314 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(311): Show |
intron_variant | MODIFIER | c.-91-5979T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42474482 | ||||||
| chr1:42474639
|
G | A | 99 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(96): Show | 99 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(96): Show |
intron_variant | MODIFIER | c.-91-5822G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42474639 | ||||||
| chr1:42474752
|
C | A | 1 | a0002c0003t0003g0016 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.-91-5709C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42474752 | ||||||
| chr1:42474768
|
A | G | 1 | a0001c0005t0036g0309 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.-91-5693A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42474768 | ||||||
| chr1:42474844
|
C | T | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.-91-5617C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42474844 | ||||||
| chr1:42475112
|
A | G | 8 | a0001c0004t0022g0059a0001c0004t0022g0060a0001c0009t0017g0055others(5): Show | 8 | HG01891.hp2 HG02615.hp2 HG02970.hp2 others(5): Show |
intron_variant | MODIFIER | c.-91-5349A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42475112 | ||||||
| chr1:42475166
|
A | G | 15 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0006t0004g0311others(12): Show | 15 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(12): Show |
intron_variant | MODIFIER | c.-91-5295A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42475166 | ||||||
| chr1:42475314
|
T | A | 1 | a0001c0001t0001g0085 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.-91-5147T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42475314 | ||||||
| chr1:42475327
|
C | T | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-91-5134C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42475327 | ||||||
| chr1:42475420
|
A | G | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.-91-5041A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42475420 | ||||||
| chr1:42475547
|
A | G | 1 | a0002c0003t0014g0009 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.-91-4914A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42475547 | ||||||
| chr1:42476114
|
T | C | 1 | a0003c0008t0012g0289 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.-91-4347T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42476114 | ||||||
| chr1:42476164
|
T | C | 185 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(182): Show | 185 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(182): Show |
intron_variant | MODIFIER | c.-91-4297T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42476164 | ||||||
| chr1:42476174
|
A | G | 4 | a0002c0003t0003g0045a0002c0003t0003g0046a0002c0003t0003g0048others(1): Show | 4 | HG01175.hp1 HG01515.hp2 HG02818.hp1 others(1): Show |
intron_variant | MODIFIER | c.-91-4287A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42476174 | ||||||
| chr1:42476198
|
A | ATGGGAAT others(15): Show |
45 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(42): Show | 45 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(42): Show |
intron_variant | MODIFIER | c.-91-4261_-91-4240d others(24): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | 42476198 | |||||
| chr1:42476237
|
A | C | 1 | a0001c0005t0036g0309 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.-91-4224A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42476237 | ||||||
| chr1:42476276
|
C | G | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-91-4185C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42476276 | ||||||
| chr1:42476352
|
G | A | 1 | a0001c0001t0001g0086 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.-91-4109G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42476352 | ||||||
| chr1:42476422
|
A | G | 1 | a0001c0001t0001g0163 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.-91-4039A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42476422 | ||||||
| chr1:42476425
|
T | C | 51 | a0001c0021t0045g0049a0002c0003t0003g0011a0002c0003t0003g0012others(48): Show | 51 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(48): Show |
intron_variant | MODIFIER | c.-91-4036T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42476425 | ||||||
| chr1:42476488
|
C | T | 18 | a0001c0001t0001g0082a0001c0001t0001g0085a0001c0001t0001g0147others(15): Show | 18 | HG00280.hp2 HG00558.hp2 HG02027.hp2 others(15): Show |
intron_variant | MODIFIER | c.-91-3973C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42476488 | ||||||
| chr1:42476546
|
C | T | 1 | a0001c0001t0030g0146 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.-91-3915C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42476546 | ||||||
| chr1:42476626
|
G | T | 4 | a0002c0003t0003g0042a0002c0003t0003g0043a0002c0003t0003g0044others(1): Show | 4 | HG01074.hp1 HG01433.hp2 HG01496.hp2 others(1): Show |
intron_variant | MODIFIER | c.-91-3835G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42476626 | ||||||
| chr1:42476669
|
A | G | 1 | a0001c0005t0036g0309 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.-91-3792A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42476669 | ||||||
| chr1:42476671
|
A | C | 1 | a0001c0005t0036g0309 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.-91-3790A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42476671 | ||||||
| chr1:42476677
|
T | C | 1 | a0001c0005t0036g0309 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.-91-3784T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42476677 | ||||||
| chr1:42476680
|
A | G | 1 | a0001c0005t0036g0309 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.-91-3781A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42476680 | ||||||
| chr1:42476686
|
T | G | 1 | a0001c0005t0036g0309 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.-91-3775T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42476686 | ||||||
| chr1:42476705
|
G | A | 1 | a0001c0005t0036g0309 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.-91-3756G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42476705 | ||||||
| chr1:42476707
|
T | A | 1 | a0001c0005t0036g0309 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.-91-3754T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42476707 | ||||||
| chr1:42476707
|
TA | T | 99 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(96): Show | 99 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(96): Show |
intron_variant | MODIFIER | c.-91-3747delA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | 42476707 | |||||
| chr1:42476708
|
A | G | 1 | a0001c0001t0024g0145 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.-91-3753A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42476708 | ||||||
| chr1:42476727
|
ATTATAC | A | 28 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(25): Show | 28 | HG00099.hp1 HG00741.hp2 HG01071.hp2 others(25): Show |
intron_variant | MODIFIER | c.-91-3729_-91-3724d others(8): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | 42476727 | |||||
| chr1:42476883
|
G | GTT | 10 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(7): Show | 10 | HG01167.hp2 HG02109.hp2 HG02572.hp2 others(7): Show |
intron_variant | MODIFIER | c.-91-3568_-91-3567d others(4): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | 42476883 | |||||
| chr1:42476890
|
T | TTG | 115 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(112): Show | 115 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(112): Show |
intron_variant | MODIFIER | c.-91-3570_-91-3569i others(4): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | 42476890 | |||||
| chr1:42476893
|
TTG | T | 46 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(43): Show | 46 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(43): Show |
intron_variant | MODIFIER | c.-91-3566_-91-3565d others(4): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | 42476893 | |||||
| chr1:42476895
|
GT | G | 6 | a0001c0021t0045g0049a0003c0022t0046g0050a0004c0011t0009g0003others(3): Show | 6 | HG02559.hp2 HG02622.hp1 HG02896.hp1 others(3): Show |
intron_variant | MODIFIER | c.-91-3554delT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | 42476895 | |||||
| chr1:42476896
|
T | G | 46 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(43): Show | 46 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(43): Show |
intron_variant | MODIFIER | c.-91-3565T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42476896 | ||||||
| chr1:42476900
|
T | G | 125 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(122): Show | 125 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(122): Show |
intron_variant | MODIFIER | c.-91-3561T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42476900 | ||||||
| chr1:42476910
|
C | A | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.-91-3551C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42476910 | ||||||
| chr1:42477088
|
T | A | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.-91-3373T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42477088 | ||||||
| chr1:42477092
|
TC | T | 61 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(58): Show | 61 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(58): Show |
intron_variant | MODIFIER | c.-91-3363delC | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | 42477092 | |||||
| chr1:42477093
|
C | T | 113 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(110): Show | 113 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(110): Show |
intron_variant | MODIFIER | c.-91-3368C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42477093 | ||||||
| chr1:42477126
|
C | T | 27 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(24): Show | 27 | HG00099.hp1 HG00741.hp2 HG01071.hp2 others(24): Show |
intron_variant | MODIFIER | c.-91-3335C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42477126 | ||||||
| chr1:42477324
|
G | T | 3 | a0003c0008t0012g0262a0003c0008t0012g0265a0003c0008t0037g0263 | 3 | HG01243.hp1 HG02896.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.-91-3137G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42477324 | ||||||
| chr1:42477428
|
C | T | 6 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(3): Show | 6 | HG01891.hp2 HG02970.hp2 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.-91-3033C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42477428 | ||||||
| chr1:42478046
|
C | T | 2 | a0001c0021t0045g0049a0003c0022t0046g0050 | 2 | HG02559.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.-91-2415C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42478046 | ||||||
| chr1:42478399
|
A | C | 27 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(24): Show | 27 | HG00099.hp1 HG00741.hp2 HG01071.hp2 others(24): Show |
intron_variant | MODIFIER | c.-91-2062A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42478399 | ||||||
| chr1:42478497
|
G | A | 2 | a0002c0016t0020g0006a0002c0016t0020g0010 | 2 | HG03654.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.-91-1964G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42478497 | ||||||
| chr1:42478691
|
C | T | 1 | a0001c0001t0001g0198 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.-91-1770C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42478691 | ||||||
| chr1:42478741
|
G | T | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-91-1720G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42478741 | ||||||
| chr1:42478795
|
G | A | 3 | a0002c0003t0003g0017a0002c0003t0003g0018a0002c0003t0003g0019 | 3 | NA18966.hp2 NA18972.hp1 NA19001.hp1 |
intron_variant | MODIFIER | c.-91-1666G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42478795 | ||||||
| chr1:42478821
|
T | C | 9 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(6): Show | 9 | HG01167.hp2 HG02109.hp2 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.-91-1640T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42478821 | ||||||
| chr1:42479093
|
G | T | 1 | a0001c0004t0004g0288 | 1 | NA19082.hp2 | intron_variant | MODIFIER | c.-91-1368G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42479093 | ||||||
| chr1:42479101
|
C | T | 51 | a0001c0021t0045g0049a0002c0003t0003g0011a0002c0003t0003g0012others(48): Show | 51 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(48): Show |
intron_variant | MODIFIER | c.-91-1360C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42479101 | ||||||
| chr1:42479102
|
G | A | 3 | a0003c0008t0012g0262a0003c0008t0012g0265a0003c0008t0037g0263 | 3 | HG01243.hp1 HG02896.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.-91-1359G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42479102 | ||||||
| chr1:42479141
|
C | A | 1 | a0001c0001t0007g0087 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.-91-1320C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42479141 | ||||||
| chr1:42479233
|
G | A | 1 | a0003c0024t0012g0290 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.-91-1228G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42479233 | ||||||
| chr1:42479342
|
T | C | 179 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(176): Show | 179 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(176): Show |
intron_variant | MODIFIER | c.-91-1119T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42479342 | ||||||
| chr1:42479437
|
G | A | 2 | a0001c0021t0045g0049a0003c0022t0046g0050 | 2 | HG02559.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.-91-1024G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42479437 | ||||||
| chr1:42479565
|
T | TA | 59 | a0001c0002t0002g0287a0001c0005t0008g0202a0001c0005t0008g0203others(56): Show | 59 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(56): Show |
intron_variant | MODIFIER | c.-91-896_-91-895ins others(1): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42479565 | ||||||
| chr1:42479565
|
T | TAA | 45 | a0001c0002t0002g0259a0001c0002t0002g0260a0001c0002t0002g0281others(42): Show | 45 | HG00438.hp1 HG00673.hp1 HG00733.hp1 others(42): Show |
intron_variant | MODIFIER | c.-91-896_-91-895ins others(2): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42479565 | ||||||
| chr1:42479565
|
T | TAAA | 60 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(57): Show | 60 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(57): Show |
intron_variant | MODIFIER | c.-91-896_-91-895ins others(3): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42479565 | ||||||
| chr1:42479565
|
T | TAAAA | 10 | a0001c0002t0002g0208a0001c0004t0002g0298a0001c0005t0005g0300others(7): Show | 10 | HG01167.hp2 HG01981.hp2 HG02109.hp2 others(7): Show |
intron_variant | MODIFIER | c.-91-896_-91-895ins others(4): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42479565 | ||||||
| chr1:42479566
|
T | A | 179 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(176): Show | 179 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(176): Show |
intron_variant | MODIFIER | c.-91-895T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42479566 | ||||||
| chr1:42479566
|
TA | T | 7 | a0001c0001t0001g0144a0001c0001t0001g0198a0001c0001t0006g0192others(4): Show | 7 | HG00438.hp2 HG01515.hp1 HG01975.hp1 others(4): Show |
intron_variant | MODIFIER | c.-91-879delA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | 42479566 | |||||
| chr1:42479723
|
C | G | 1 | a0003c0015t0041g0308 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.-91-738C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42479723 | ||||||
| chr1:42479757
|
A | G | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-91-704A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42479757 | ||||||
| chr1:42480019
|
G | A | 47 | a0001c0006t0004g0311a0001c0006t0015g0312a0002c0003t0003g0011others(44): Show | 47 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(44): Show |
intron_variant | MODIFIER | c.-91-442G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42480019 | ||||||
| chr1:42480019
|
G | C | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.-91-442G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42480019 | ||||||
| chr1:42480043
|
T | G | 99 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(96): Show | 99 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(96): Show |
intron_variant | MODIFIER | c.-91-418T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42480043 | ||||||
| chr1:42480291
|
A | G | 4 | a0001c0004t0022g0059a0001c0004t0022g0060a0003c0012t0048g0062others(1): Show | 4 | HG02615.hp2 HG03471.hp2 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.-91-170A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42480291 | ||||||
| chr1:42480293
|
T | A | 2 | a0001c0004t0003g0291a0001c0004t0009g0292 | 2 | HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.-91-168T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42480293 | ||||||
| chr1:42480316
|
T | C | 2 | a0001c0005t0008g0202a0001c0005t0008g0203 | 2 | HG03209.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.-91-145T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 1/20 | chr1 | 42480316 | ||||||
| chr1:42480625
|
G | A | 2 | a0001c0004t0004g0268a0001c0004t0004g0288 | 2 | NA18943.hp2 NA19082.hp2 |
intron_variant | MODIFIER | c.15+59G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 2/20 | chr1 | 42480625 | ||||||
| chr1:42480791
|
C | T | 184 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(181): Show | 184 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(181): Show |
intron_variant | MODIFIER | c.15+225C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 2/20 | chr1 | 42480791 | ||||||
| chr1:42480862
|
A | G | 1 | a0001c0002t0021g0256 | 1 | NA18961.hp2 | intron_variant | MODIFIER | c.15+296A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 2/20 | chr1 | 42480862 | ||||||
| chr1:42480999
|
T | C | 10 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(7): Show | 10 | HG01167.hp2 HG02109.hp2 HG02572.hp2 others(7): Show |
intron_variant | MODIFIER | c.15+433T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 2/20 | chr1 | 42480999 | ||||||
| chr1:42481003
|
G | T | 176 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(173): Show | 176 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(173): Show |
intron_variant | MODIFIER | c.15+437G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 2/20 | chr1 | 42481003 | ||||||
| chr1:42481112
|
T | TA | 50 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(47): Show | 50 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(47): Show |
intron_variant | MODIFIER | c.15+559dupA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | 42481112 | |||||
| chr1:42481112
|
TA | T | 98 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(95): Show | 98 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(95): Show |
intron_variant | MODIFIER | c.15+559delA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | 42481112 | |||||
| chr1:42481127
|
A | G | 1 | a0001c0001t0006g0143 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.15+561A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 2/20 | chr1 | 42481127 | ||||||
| chr1:42481132
|
T | C | 1 | a0001c0004t0015g0210 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.15+566T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 2/20 | chr1 | 42481132 | ||||||
| chr1:42481147
|
CA | C | 8 | a0001c0004t0022g0059a0001c0004t0022g0060a0001c0009t0017g0055others(5): Show | 8 | HG01891.hp2 HG02615.hp2 HG02970.hp2 others(5): Show |
intron_variant | MODIFIER | c.15+584delA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | 42481147 | |||||
| chr1:42481148
|
A | G | 1 | a0001c0004t0004g0261 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.15+582A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 2/20 | chr1 | 42481148 | ||||||
| chr1:42481356
|
G | A | 1 | a0001c0002t0002g0211 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.15+790G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 2/20 | chr1 | 42481356 | ||||||
| chr1:42481508
|
C | T | 4 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(1): Show | 4 | HG01891.hp2 HG02970.hp2 NA18522.hp2 others(1): Show |
intron_variant | MODIFIER | c.15+942C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 2/20 | chr1 | 42481508 | ||||||
| chr1:42481576
|
CA | C | 96 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(93): Show | 97 | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(94): Show |
intron_variant | MODIFIER | c.15+1033delA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | 42481576 | |||||
| chr1:42481576
|
CAA | C | 11 | a0001c0001t0001g0086a0001c0001t0001g0141a0001c0001t0001g0142others(8): Show | 11 | HG01069.hp1 HG01169.hp1 HG02145.hp1 others(8): Show |
intron_variant | MODIFIER | c.15+1032_15+1033del others(2): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | 42481576 | |||||
| chr1:42481576
|
CAAA | C | 163 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(160): Show | 163 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(160): Show |
intron_variant | MODIFIER | c.15+1031_15+1033del others(3): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | 42481576 | |||||
| chr1:42481576
|
CAAAA | C | 9 | a0001c0002t0002g0254a0001c0004t0003g0255a0001c0004t0004g0199others(6): Show | 9 | HG01069.hp2 HG01516.hp1 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.15+1030_15+1033del others(4): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | 42481576 | |||||
| chr1:42481613
|
A | G | 99 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(96): Show | 99 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(96): Show |
intron_variant | MODIFIER | c.15+1047A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 2/20 | chr1 | 42481613 | ||||||
| chr1:42481788
|
A | AG | 12 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(9): Show | 12 | HG01167.hp2 HG02109.hp2 HG02559.hp2 others(9): Show |
intron_variant | MODIFIER | c.16-874dupG | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | 42481788 | |||||
| chr1:42481810
|
T | C | 8 | a0001c0004t0022g0059a0001c0004t0022g0060a0001c0009t0017g0055others(5): Show | 8 | HG01891.hp2 HG02615.hp2 HG02970.hp2 others(5): Show |
intron_variant | MODIFIER | c.16-853T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 2/20 | chr1 | 42481810 | ||||||
| chr1:42481928
|
A | G | 1 | a0001c0002t0002g0253 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.16-735A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 2/20 | chr1 | 42481928 | ||||||
| chr1:42481979
|
A | G | 59 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(56): Show | 59 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(56): Show |
intron_variant | MODIFIER | c.16-684A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 2/20 | chr1 | 42481979 | ||||||
| chr1:42482078
|
C | T | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.16-585C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 2/20 | chr1 | 42482078 | ||||||
| chr1:42482122
|
G | A | 13 | a0001c0006t0004g0311a0001c0006t0005g0320a0001c0006t0008g0314others(10): Show | 13 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(10): Show |
intron_variant | MODIFIER | c.16-541G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 2/20 | chr1 | 42482122 | ||||||
| chr1:42482133
|
G | A | 3 | a0002c0003t0003g0012a0002c0003t0003g0013a0002c0003t0016g0021 | 3 | HG02015.hp1 NA19004.hp1 NA19084.hp1 |
intron_variant | MODIFIER | c.16-530G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 2/20 | chr1 | 42482133 | ||||||
| chr1:42482138
|
A | C | 1 | a0001c0001t0001g0140 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.16-525A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 2/20 | chr1 | 42482138 | ||||||
| chr1:42482166
|
C | T | 27 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(24): Show | 27 | HG00099.hp1 HG00741.hp2 HG01071.hp2 others(24): Show |
intron_variant | MODIFIER | c.16-497C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 2/20 | chr1 | 42482166 | ||||||
| chr1:42482189
|
C | T | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.16-474C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 2/20 | chr1 | 42482189 | ||||||
| chr1:42482222
|
C | CA | 147 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(144): Show | 148 | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(145): Show |
intron_variant | MODIFIER | c.16-425dupA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | 42482222 | |||||
| chr1:42482222
|
CA | C | 10 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0006t0004g0311others(7): Show | 10 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(7): Show |
intron_variant | MODIFIER | c.16-425delA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | 42482222 | |||||
| chr1:42482250
|
G | C | 176 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(173): Show | 176 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(173): Show |
intron_variant | MODIFIER | c.16-413G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 2/20 | chr1 | 42482250 | ||||||
| chr1:42482531
|
TCA | T | 46 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(43): Show | 46 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(43): Show |
intron_variant | MODIFIER | c.16-123_16-122delCA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | 42482531 | |||||
| chr1:42482559
|
ATTG | A | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.16-101_16-99delGTT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | 42482559 | |||||
| chr1:42482568
|
T | TAATTTAT others(313): Show |
1 | a0003c0012t0049g0061 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.16-80_16-79insTTTT others(316): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | 42482568 | |||||
| chr1:42482568
|
T | TAATTTAT others(314): Show |
4 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(1): Show | 4 | HG02970.hp2 NA18522.hp2 NA19240.hp1 others(1): Show |
intron_variant | MODIFIER | c.16-80_16-79insTTTT others(317): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | 42482568 | |||||
| chr1:42482568
|
T | TAATTTAT others(315): Show |
3 | a0001c0004t0022g0059a0001c0004t0022g0060a0001c0009t0047g0058 | 3 | HG01891.hp2 HG02615.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.16-80_16-79insTTTT others(318): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | 42482568 | |||||
| chr1:42482891
|
GA | G | 47 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(44): Show | 47 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(44): Show |
intron_variant | MODIFIER | c.169+87delA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr1 | 42482891 | |||||
| chr1:42482898
|
A | G | 1 | a0004c0011t0009g0005 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.169+82A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42482898 | ||||||
| chr1:42482914
|
C | A | 184 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(181): Show | 184 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(181): Show |
intron_variant | MODIFIER | c.169+98C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42482914 | ||||||
| chr1:42483123
|
T | C | 1 | a0002c0003t0003g0044 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.169+307T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42483123 | ||||||
| chr1:42483146
|
G | A | 99 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(96): Show | 99 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(96): Show |
intron_variant | MODIFIER | c.169+330G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42483146 | ||||||
| chr1:42483182
|
TCTC | T | 9 | a0001c0002t0002g0281a0001c0002t0002g0287a0001c0004t0004g0280others(6): Show | 9 | HG00673.hp1 HG02080.hp2 HG02129.hp2 others(6): Show |
intron_variant | MODIFIER | c.169+369_169+371del others(3): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr1 | 42483182 | |||||
| chr1:42483301
|
A | C | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.169+485A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42483301 | ||||||
| chr1:42483319
|
T | C | 2 | a0001c0004t0003g0291a0001c0004t0009g0292 | 2 | HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.169+503T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42483319 | ||||||
| chr1:42483522
|
G | C | 127 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(124): Show | 127 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(124): Show |
intron_variant | MODIFIER | c.169+706G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42483522 | ||||||
| chr1:42483641
|
T | G | 1 | a0001c0004t0050g0279 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.169+825T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42483641 | ||||||
| chr1:42483671
|
G | C | 2 | a0001c0005t0008g0202a0001c0005t0008g0203 | 2 | HG03209.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.169+855G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42483671 | ||||||
| chr1:42483707
|
A | C | 1 | a0004c0011t0009g0004 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.169+891A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42483707 | ||||||
| chr1:42483725
|
A | C | 5 | a0001c0006t0005g0320a0001c0006t0008g0318a0001c0006t0008g0321others(2): Show | 5 | HG02145.hp1 HG02717.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.169+909A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42483725 | ||||||
| chr1:42483735
|
A | G | 111 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(108): Show | 111 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(108): Show |
intron_variant | MODIFIER | c.169+919A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42483735 | ||||||
| chr1:42483799
|
T | C | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.169+983T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42483799 | ||||||
| chr1:42483862
|
T | C | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.169+1046T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42483862 | ||||||
| chr1:42484078
|
G | GTTTATGA | 45 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(42): Show | 45 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(42): Show |
intron_variant | MODIFIER | c.169+1264_169+1265i others(9): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr1 | 42484078 | |||||
| chr1:42484084
|
T | C | 45 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(42): Show | 45 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(42): Show |
intron_variant | MODIFIER | c.169+1268T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42484084 | ||||||
| chr1:42484085
|
G | A | 45 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(42): Show | 45 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(42): Show |
intron_variant | MODIFIER | c.169+1269G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42484085 | ||||||
| chr1:42484086
|
T | TTAAACAA others(2): Show |
45 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(42): Show | 45 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(42): Show |
intron_variant | MODIFIER | c.169+1270_169+1271i others(11): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42484086 | ||||||
| chr1:42484087
|
A | T | 45 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(42): Show | 45 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(42): Show |
intron_variant | MODIFIER | c.169+1271A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42484087 | ||||||
| chr1:42484124
|
AAAT | A | 10 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(7): Show | 10 | HG01167.hp2 HG02109.hp2 HG02572.hp2 others(7): Show |
intron_variant | MODIFIER | c.169+1317_169+1319d others(5): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr1 | 42484124 | |||||
| chr1:42484127
|
T | A | 1 | a0006c0029t0039g0052 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.169+1311T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42484127 | ||||||
| chr1:42484130
|
T | TA | 54 | a0001c0002t0002g0281a0001c0002t0002g0287a0001c0002t0044g0257others(51): Show | 54 | HG00438.hp1 HG00673.hp1 HG01069.hp2 others(51): Show |
intron_variant | MODIFIER | c.169+1316dupA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr1 | 42484130 | |||||
| chr1:42484132
|
A | AT | 6 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0079others(3): Show | 6 | HG02559.hp1 HG02809.hp1 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.169+1317dupT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr1 | 42484132 | |||||
| chr1:42484132
|
AT | A | 10 | a0001c0004t0022g0059a0001c0004t0022g0060a0001c0009t0017g0055others(7): Show | 10 | HG01891.hp2 HG02280.hp1 HG02615.hp2 others(7): Show |
intron_variant | MODIFIER | c.169+1317delT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42484132 | ||||||
| chr1:42484133
|
T | A | 175 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(172): Show | 175 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(172): Show |
intron_variant | MODIFIER | c.169+1317T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42484133 | ||||||
| chr1:42484216
|
T | C | 27 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(24): Show | 27 | HG00099.hp1 HG00741.hp2 HG01071.hp2 others(24): Show |
intron_variant | MODIFIER | c.169+1400T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42484216 | ||||||
| chr1:42484222
|
A | T | 1 | a0006c0029t0039g0052 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.169+1406A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42484222 | ||||||
| chr1:42484477
|
C | T | 1 | a0002c0016t0020g0006 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.169+1661C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42484477 | ||||||
| chr1:42484537
|
A | G | 100 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(97): Show | 101 | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(98): Show |
intron_variant | MODIFIER | c.169+1721A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42484537 | ||||||
| chr1:42484816
|
G | A | 177 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(174): Show | 177 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(174): Show |
intron_variant | MODIFIER | c.169+2000G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42484816 | ||||||
| chr1:42485128
|
A | T | 127 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(124): Show | 127 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(124): Show |
intron_variant | MODIFIER | c.169+2312A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42485128 | ||||||
| chr1:42485154
|
T | C | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.169+2338T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42485154 | ||||||
| chr1:42485619
|
A | G | 2 | a0001c0021t0045g0049a0003c0022t0046g0050 | 2 | HG02559.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.169+2803A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42485619 | ||||||
| chr1:42485658
|
AG | A | 5 | a0001c0006t0005g0320a0001c0006t0008g0318a0001c0006t0008g0321others(2): Show | 5 | HG02145.hp1 HG02717.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.169+2843delG | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42485658 | ||||||
| chr1:42485659
|
G | A | 172 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(169): Show | 172 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(169): Show |
intron_variant | MODIFIER | c.169+2843G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42485659 | ||||||
| chr1:42485821
|
A | G | 1 | a0001c0021t0045g0049 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.169+3005A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42485821 | ||||||
| chr1:42485845
|
C | T | 10 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(7): Show | 10 | HG01167.hp2 HG02109.hp2 HG02572.hp2 others(7): Show |
intron_variant | MODIFIER | c.169+3029C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42485845 | ||||||
| chr1:42485850
|
A | G | 2 | a0001c0001t0006g0189a0001c0001t0006g0190 | 2 | HG00099.hp1 HG01993.hp2 |
intron_variant | MODIFIER | c.169+3034A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42485850 | ||||||
| chr1:42485870
|
T | C | 5 | a0001c0006t0005g0320a0001c0006t0008g0318a0001c0006t0008g0321others(2): Show | 5 | HG02145.hp1 HG02717.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.169+3054T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42485870 | ||||||
| chr1:42485883
|
C | T | 1 | a0001c0001t0001g0138 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.169+3067C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42485883 | ||||||
| chr1:42486102
|
C | G | 1 | a0001c0005t0008g0203 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.169+3286C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42486102 | ||||||
| chr1:42486467
|
A | G | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.169+3651A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42486467 | ||||||
| chr1:42486909
|
A | G | 1 | a0001c0001t0001g0140 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.170-3249A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42486909 | ||||||
| chr1:42486974
|
G | A | 1 | a0001c0021t0045g0049 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.170-3184G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42486974 | ||||||
| chr1:42487110
|
CA | C | 9 | a0001c0001t0001g0137a0001c0001t0001g0139a0001c0001t0001g0198others(6): Show | 9 | HG00597.hp2 HG01516.hp2 HG01975.hp1 others(6): Show |
intron_variant | MODIFIER | c.170-3025delA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr1 | 42487110 | |||||
| chr1:42487110
|
CAA | C | 50 | a0001c0004t0022g0059a0001c0004t0022g0060a0001c0009t0017g0055others(47): Show | 50 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(47): Show |
intron_variant | MODIFIER | c.170-3026_170-3025d others(4): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr1 | 42487110 | |||||
| chr1:42487110
|
CAAAA | C | 104 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(101): Show | 104 | HG00099.hp2 HG00280.hp1 HG00438.hp1 others(101): Show |
intron_variant | MODIFIER | c.170-3028_170-3025d others(6): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr1 | 42487110 | |||||
| chr1:42487110
|
CAAAAA | C | 22 | a0001c0002t0002g0251a0001c0002t0002g0252a0001c0002t0021g0256others(19): Show | 22 | HG00408.hp1 HG00423.hp2 HG01167.hp1 others(19): Show |
intron_variant | MODIFIER | c.170-3029_170-3025d others(7): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr1 | 42487110 | |||||
| chr1:42487295
|
T | C | 1 | a0006c0029t0039g0052 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.170-2863T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42487295 | ||||||
| chr1:42487425
|
T | C | 30 | a0001c0002t0002g0281a0001c0002t0002g0287a0001c0002t0044g0257others(27): Show | 30 | HG00438.hp1 HG00673.hp1 HG01069.hp2 others(27): Show |
intron_variant | MODIFIER | c.170-2733T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42487425 | ||||||
| chr1:42487480
|
C | T | 2 | a0001c0021t0045g0049a0003c0022t0046g0050 | 2 | HG02559.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.170-2678C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42487480 | ||||||
| chr1:42487481
|
G | A | 8 | a0001c0004t0022g0059a0001c0004t0022g0060a0001c0009t0017g0055others(5): Show | 8 | HG01891.hp2 HG02615.hp2 HG02970.hp2 others(5): Show |
intron_variant | MODIFIER | c.170-2677G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42487481 | ||||||
| chr1:42487875
|
C | A | 1 | a0001c0001t0006g0190 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.170-2283C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42487875 | ||||||
| chr1:42487903
|
G | A | 2 | a0002c0003t0003g0022a0002c0003t0003g0025 | 2 | NA18959.hp1 NA19010.hp2 |
intron_variant | MODIFIER | c.170-2255G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42487903 | ||||||
| chr1:42487962
|
G | C | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.170-2196G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42487962 | ||||||
| chr1:42487977
|
T | G | 1 | a0001c0001t0001g0090 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.170-2181T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42487977 | ||||||
| chr1:42488221
|
T | C | 27 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(24): Show | 27 | HG00099.hp1 HG00741.hp2 HG01071.hp2 others(24): Show |
intron_variant | MODIFIER | c.170-1937T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42488221 | ||||||
| chr1:42488459
|
G | A | 127 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(124): Show | 127 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(124): Show |
intron_variant | MODIFIER | c.170-1699G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42488459 | ||||||
| chr1:42488709
|
A | T | 1 | a0001c0001t0001g0136 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.170-1449A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42488709 | ||||||
| chr1:42488993
|
G | A | 1 | a0001c0002t0002g0259 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.170-1165G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42488993 | ||||||
| chr1:42489029
|
AC | A | 100 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(97): Show | 101 | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(98): Show |
intron_variant | MODIFIER | c.170-1127delC | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr1 | 42489029 | |||||
| chr1:42489152
|
A | G | 185 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(182): Show | 185 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(182): Show |
intron_variant | MODIFIER | c.170-1006A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42489152 | ||||||
| chr1:42489257
|
G | A | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.170-901G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42489257 | ||||||
| chr1:42489453
|
C | T | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.170-705C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42489453 | ||||||
| chr1:42489458
|
G | A | 4 | a0001c0001t0006g0171a0001c0001t0006g0173a0001c0001t0011g0172others(1): Show | 4 | HG01109.hp1 HG01361.hp2 HG03704.hp1 others(1): Show |
intron_variant | MODIFIER | c.170-700G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42489458 | ||||||
| chr1:42489503
|
G | A | 27 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(24): Show | 27 | HG00099.hp1 HG00741.hp2 HG01071.hp2 others(24): Show |
intron_variant | MODIFIER | c.170-655G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42489503 | ||||||
| chr1:42489521
|
T | C | 6 | a0001c0004t0003g0291a0001c0004t0009g0292a0001c0004t0040g0293others(3): Show | 6 | HG01167.hp1 HG01169.hp2 HG01981.hp1 others(3): Show |
intron_variant | MODIFIER | c.170-637T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42489521 | ||||||
| chr1:42489691
|
A | G | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.170-467A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42489691 | ||||||
| chr1:42490038
|
A | G | 7 | a0001c0001t0001g0065a0001c0001t0001g0066a0001c0001t0001g0086others(4): Show | 7 | HG00639.hp2 HG02257.hp2 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.170-120A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42490038 | ||||||
| chr1:42490051
|
A | T | 1 | a0002c0003t0003g0043 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.170-107A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 3/20 | chr1 | 42490051 | ||||||
| chr1:42490256
|
T | G | 1 | a0001c0009t0017g0055 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.241+27T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42490256 | ||||||
| chr1:42490330
|
G | A | 45 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(42): Show | 45 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(42): Show |
intron_variant | MODIFIER | c.241+101G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42490330 | ||||||
| chr1:42490363
|
A | G | 46 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(43): Show | 46 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(43): Show |
intron_variant | MODIFIER | c.241+134A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42490363 | ||||||
| chr1:42490414
|
T | A | 1 | a0001c0005t0008g0202 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.241+185T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42490414 | ||||||
| chr1:42490725
|
T | C | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.241+496T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42490725 | ||||||
| chr1:42490799
|
G | A | 6 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(3): Show | 6 | HG01891.hp2 HG02970.hp2 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.241+570G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42490799 | ||||||
| chr1:42490989
|
AT | A | 50 | a0001c0005t0036g0309a0002c0003t0003g0011a0002c0003t0003g0012others(47): Show | 50 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(47): Show |
intron_variant | MODIFIER | c.241+761delT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42490989 | ||||||
| chr1:42491003
|
C | A | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.241+774C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42491003 | ||||||
| chr1:42491095
|
G | C | 313 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(310): Show | 314 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(311): Show |
intron_variant | MODIFIER | c.241+866G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42491095 | ||||||
| chr1:42491149
|
T | C | 45 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(42): Show | 45 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(42): Show |
intron_variant | MODIFIER | c.241+920T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42491149 | ||||||
| chr1:42491166
|
A | G | 1 | a0001c0001t0001g0162 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.241+937A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42491166 | ||||||
| chr1:42491484
|
G | A | 1 | a0001c0001t0010g0196 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.241+1255G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42491484 | ||||||
| chr1:42491505
|
G | A | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.241+1276G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42491505 | ||||||
| chr1:42491506
|
T | TA | 149 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(146): Show | 150 | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(147): Show |
intron_variant | MODIFIER | c.241+1290dupA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr1 | 42491506 | |||||
| chr1:42491686
|
G | A | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.241+1457G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42491686 | ||||||
| chr1:42491790
|
G | A | 4 | a0001c0002t0002g0281a0001c0004t0004g0280a0001c0004t0004g0282others(1): Show | 4 | HG02129.hp2 NA19002.hp2 NA19005.hp2 others(1): Show |
intron_variant | MODIFIER | c.241+1561G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42491790 | ||||||
| chr1:42491856
|
A | C | 1 | a0001c0001t0001g0198 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.241+1627A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42491856 | ||||||
| chr1:42491878
|
C | T | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.241+1649C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42491878 | ||||||
| chr1:42491920
|
G | A | 1 | a0001c0017t0006g0063 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.241+1691G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42491920 | ||||||
| chr1:42491932
|
G | A | 6 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(3): Show | 6 | HG01891.hp2 HG02970.hp2 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.241+1703G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42491932 | ||||||
| chr1:42492021
|
A | AACTG | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.241+1795_241+1796i others(6): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr1 | 42492021 | |||||
| chr1:42492066
|
G | A | 1 | a0001c0001t0013g0174 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.241+1837G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42492066 | ||||||
| chr1:42492454
|
G | A | 5 | a0001c0004t0004g0269a0001c0004t0004g0270a0001c0004t0004g0271others(2): Show | 5 | HG00438.hp1 HG02074.hp2 HG02155.hp2 others(2): Show |
intron_variant | MODIFIER | c.241+2225G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42492454 | ||||||
| chr1:42492483
|
C | A | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.241+2254C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42492483 | ||||||
| chr1:42492639
|
T | C | 1 | a0004c0011t0009g0004 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.241+2410T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42492639 | ||||||
| chr1:42492686
|
C | T | 1 | a0001c0001t0001g0161 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.241+2457C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42492686 | ||||||
| chr1:42492747
|
A | C | 1 | a0006c0029t0039g0052 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.241+2518A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42492747 | ||||||
| chr1:42492782
|
A | G | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.241+2553A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42492782 | ||||||
| chr1:42492914
|
G | A | 2 | a0001c0021t0045g0049a0003c0022t0046g0050 | 2 | HG02559.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.241+2685G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42492914 | ||||||
| chr1:42492925
|
G | A | 27 | a0001c0001t0001g0082a0001c0001t0001g0085a0001c0001t0001g0091others(24): Show | 27 | HG00280.hp2 HG00558.hp2 HG01106.hp2 others(24): Show |
intron_variant | MODIFIER | c.241+2696G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42492925 | ||||||
| chr1:42493145
|
A | G | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.241+2916A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42493145 | ||||||
| chr1:42493182
|
A | G | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.241+2953A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42493182 | ||||||
| chr1:42493419
|
G | C | 185 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(182): Show | 185 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(182): Show |
intron_variant | MODIFIER | c.241+3190G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42493419 | ||||||
| chr1:42493510
|
C | G | 2 | a0001c0001t0011g0194a0001c0001t0013g0195 | 2 | HG01515.hp1 HG02148.hp1 |
intron_variant | MODIFIER | c.241+3281C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42493510 | ||||||
| chr1:42493535
|
G | A | 1 | a0001c0004t0009g0214 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.241+3306G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42493535 | ||||||
| chr1:42493625
|
G | A | 177 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(174): Show | 177 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(174): Show |
intron_variant | MODIFIER | c.241+3396G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42493625 | ||||||
| chr1:42493677
|
T | C | 101 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(98): Show | 101 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(98): Show |
intron_variant | MODIFIER | c.242-3421T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42493677 | ||||||
| chr1:42493825
|
A | G | 1 | a0001c0002t0002g0264 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.242-3273A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42493825 | ||||||
| chr1:42493827
|
G | A | 1 | a0006c0029t0039g0052 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.242-3271G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42493827 | ||||||
| chr1:42493880
|
A | G | 1 | a0001c0005t0036g0309 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.242-3218A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42493880 | ||||||
| chr1:42493985
|
G | C | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.242-3113G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42493985 | ||||||
| chr1:42493995
|
C | T | 1 | a0001c0001t0006g0187 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.242-3103C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42493995 | ||||||
| chr1:42494019
|
G | C | 99 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(96): Show | 99 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(96): Show |
intron_variant | MODIFIER | c.242-3079G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42494019 | ||||||
| chr1:42494020
|
C | A | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.242-3078C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42494020 | ||||||
| chr1:42494021
|
C | T | 1 | a0001c0001t0006g0193 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.242-3077C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42494021 | ||||||
| chr1:42494035
|
G | A | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.242-3063G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42494035 | ||||||
| chr1:42494198
|
C | T | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.242-2900C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42494198 | ||||||
| chr1:42494249
|
T | A | 2 | a0001c0021t0045g0049a0003c0022t0046g0050 | 2 | HG02559.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.242-2849T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42494249 | ||||||
| chr1:42494330
|
C | T | 1 | a0002c0003t0003g0022 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.242-2768C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42494330 | ||||||
| chr1:42494387
|
A | G | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.242-2711A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42494387 | ||||||
| chr1:42494414
|
T | C | 5 | a0001c0006t0005g0320a0001c0006t0008g0318a0001c0006t0008g0321others(2): Show | 5 | HG02145.hp1 HG02717.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.242-2684T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42494414 | ||||||
| chr1:42494490
|
C | A | 8 | a0001c0004t0022g0059a0001c0004t0022g0060a0001c0009t0017g0055others(5): Show | 8 | HG01891.hp2 HG02615.hp2 HG02970.hp2 others(5): Show |
intron_variant | MODIFIER | c.242-2608C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42494490 | ||||||
| chr1:42494657
|
A | C | 117 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(114): Show | 117 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(114): Show |
intron_variant | MODIFIER | c.242-2441A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42494657 | ||||||
| chr1:42494691
|
C | T | 1 | a0001c0001t0001g0160 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.242-2407C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42494691 | ||||||
| chr1:42494732
|
G | T | 1 | a0001c0001t0001g0140 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.242-2366G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42494732 | ||||||
| chr1:42494812
|
T | C | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.242-2286T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42494812 | ||||||
| chr1:42494813
|
C | T | 45 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(42): Show | 45 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(42): Show |
intron_variant | MODIFIER | c.242-2285C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42494813 | ||||||
| chr1:42494845
|
G | C | 1 | a0001c0001t0006g0193 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.242-2253G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42494845 | ||||||
| chr1:42494997
|
C | T | 42 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(39): Show | 42 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(39): Show |
intron_variant | MODIFIER | c.242-2101C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42494997 | ||||||
| chr1:42495069
|
C | A | 10 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(7): Show | 10 | HG01167.hp2 HG02109.hp2 HG02572.hp2 others(7): Show |
intron_variant | MODIFIER | c.242-2029C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42495069 | ||||||
| chr1:42495070
|
G | A | 27 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(24): Show | 27 | HG00099.hp1 HG00741.hp2 HG01071.hp2 others(24): Show |
intron_variant | MODIFIER | c.242-2028G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42495070 | ||||||
| chr1:42495201
|
T | G | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.242-1897T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42495201 | ||||||
| chr1:42495370
|
A | G | 177 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(174): Show | 177 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(174): Show |
intron_variant | MODIFIER | c.242-1728A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42495370 | ||||||
| chr1:42495391
|
G | A | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.242-1707G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42495391 | ||||||
| chr1:42495489
|
T | C | 8 | a0001c0004t0022g0059a0001c0004t0022g0060a0001c0009t0017g0055others(5): Show | 8 | HG01891.hp2 HG02615.hp2 HG02970.hp2 others(5): Show |
intron_variant | MODIFIER | c.242-1609T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42495489 | ||||||
| chr1:42495504
|
G | A | 2 | a0002c0016t0020g0006a0002c0016t0020g0010 | 2 | HG03654.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.242-1594G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42495504 | ||||||
| chr1:42495531
|
C | CA | 48 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(45): Show | 48 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(45): Show |
intron_variant | MODIFIER | c.242-1553dupA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr1 | 42495531 | |||||
| chr1:42495531
|
CA | C | 135 | a0001c0001t0001g0133a0001c0001t0001g0198a0001c0002t0002g0204others(132): Show | 135 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(132): Show |
intron_variant | MODIFIER | c.242-1553delA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr1 | 42495531 | |||||
| chr1:42495639
|
G | C | 1 | a0001c0017t0006g0063 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.242-1459G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42495639 | ||||||
| chr1:42495700
|
TA | T | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.242-1394delA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr1 | 42495700 | |||||
| chr1:42495747
|
C | A | 10 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(7): Show | 10 | HG01167.hp2 HG02109.hp2 HG02572.hp2 others(7): Show |
intron_variant | MODIFIER | c.242-1351C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42495747 | ||||||
| chr1:42496122
|
A | AGT | 5 | a0001c0001t0001g0066a0001c0004t0004g0283a0001c0013t0019g0081others(2): Show | 5 | HG03471.hp1 HG03540.hp2 NA19063.hp1 others(2): Show |
intron_variant | MODIFIER | c.242-939_242-938dup others(2): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr1 | 42496122 | |||||
| chr1:42496122
|
AGT | A | 112 | a0001c0001t0001g0065a0001c0001t0001g0076a0001c0001t0001g0131others(109): Show | 112 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(109): Show |
intron_variant | MODIFIER | c.242-939_242-938del others(2): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr1 | 42496122 | |||||
| chr1:42496122
|
AGTGT | A | 162 | a0001c0001t0001g0001a0001c0001t0001g0069a0001c0001t0001g0070others(159): Show | 163 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(160): Show |
intron_variant | MODIFIER | c.242-941_242-938del others(4): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr1 | 42496122 | |||||
| chr1:42496122
|
AGTGTGT | A | 12 | a0001c0001t0001g0086a0001c0001t0001g0134a0001c0001t0001g0148others(9): Show | 12 | HG00280.hp2 HG01167.hp1 HG01169.hp2 others(9): Show |
intron_variant | MODIFIER | c.242-943_242-938del others(6): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr1 | 42496122 | |||||
| chr1:42496122
|
AGTGTGTG others(1): Show |
A | 12 | a0001c0001t0001g0068a0001c0001t0001g0084a0001c0001t0001g0091others(9): Show | 12 | HG01106.hp2 HG01243.hp1 HG01884.hp2 others(9): Show |
intron_variant | MODIFIER | c.242-945_242-938del others(8): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr1 | 42496122 | |||||
| chr1:42496151
|
G | A | 60 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(57): Show | 60 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(57): Show |
intron_variant | MODIFIER | c.242-947G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42496151 | ||||||
| chr1:42496335
|
G | T | 5 | a0001c0001t0001g0065a0001c0001t0001g0066a0001c0001t0001g0086others(2): Show | 5 | HG00639.hp2 HG02257.hp2 HG03139.hp2 others(2): Show |
intron_variant | MODIFIER | c.242-763G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42496335 | ||||||
| chr1:42496465
|
A | AATAT | 47 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(44): Show | 47 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(44): Show |
intron_variant | MODIFIER | c.242-623_242-620dup others(4): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr1 | 42496465 | |||||
| chr1:42496550
|
A | C | 129 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(126): Show | 129 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(126): Show |
intron_variant | MODIFIER | c.242-548A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42496550 | ||||||
| chr1:42496561
|
T | C | 1 | a0001c0004t0040g0293 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.242-537T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42496561 | ||||||
| chr1:42496952
|
G | A | 1 | a0002c0003t0009g0007 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.242-146G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 4/20 | chr1 | 42496952 | ||||||
| chr1:42497465
|
G | A | 7 | a0001c0001t0001g0065a0001c0001t0001g0066a0001c0001t0001g0086others(4): Show | 7 | HG00639.hp2 HG02257.hp2 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.357+252G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 5/20 | chr1 | 42497465 | ||||||
| chr1:42497531
|
T | G | 2 | a0001c0001t0001g0097a0001c0001t0001g0098 | 2 | HG02886.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.357+318T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 5/20 | chr1 | 42497531 | ||||||
| chr1:42497581
|
A | G | 1 | a0003c0015t0041g0308 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.357+368A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 5/20 | chr1 | 42497581 | ||||||
| chr1:42497626
|
A | C | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.357+413A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 5/20 | chr1 | 42497626 | ||||||
| chr1:42497831
|
T | A | 127 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(124): Show | 127 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(124): Show |
intron_variant | MODIFIER | c.357+618T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 5/20 | chr1 | 42497831 | ||||||
| chr1:42497922
|
G | T | 8 | a0001c0004t0022g0059a0001c0004t0022g0060a0001c0009t0017g0055others(5): Show | 8 | HG01891.hp2 HG02615.hp2 HG02970.hp2 others(5): Show |
intron_variant | MODIFIER | c.357+709G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 5/20 | chr1 | 42497922 | ||||||
| chr1:42497985
|
G | C | 9 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(6): Show | 9 | HG01167.hp2 HG02109.hp2 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.357+772G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 5/20 | chr1 | 42497985 | ||||||
| chr1:42498070
|
A | C | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.358-748A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 5/20 | chr1 | 42498070 | ||||||
| chr1:42498309
|
G | A | 100 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(97): Show | 101 | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(98): Show |
intron_variant | MODIFIER | c.358-509G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 5/20 | chr1 | 42498309 | ||||||
| chr1:42498370
|
A | G | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.358-448A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 5/20 | chr1 | 42498370 | ||||||
| chr1:42498697
|
A | G | 1 | a0001c0013t0031g0129 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.358-121A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 5/20 | chr1 | 42498697 | ||||||
| chr1:42498781
|
T | C | 1 | a0001c0004t0004g0199 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.358-37T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 5/20 | chr1 | 42498781 | ||||||
| chr1:42499003
|
C | A | 1 | a0001c0005t0036g0309 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.456+87C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42499003 | ||||||
| chr1:42499780
|
C | CT | 175 | a0001c0001t0001g0098a0001c0001t0001g0198a0001c0002t0002g0204others(172): Show | 175 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(172): Show |
intron_variant | MODIFIER | c.456+876dupT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42499780 | |||||
| chr1:42499818
|
A | G | 15 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0006t0004g0311others(12): Show | 15 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(12): Show |
intron_variant | MODIFIER | c.456+902A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42499818 | ||||||
| chr1:42499959
|
T | G | 99 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(96): Show | 99 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(96): Show |
intron_variant | MODIFIER | c.456+1043T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42499959 | ||||||
| chr1:42500069
|
G | A | 1 | a0001c0002t0002g0259 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.456+1153G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42500069 | ||||||
| chr1:42500092
|
A | C | 8 | a0001c0004t0022g0059a0001c0004t0022g0060a0001c0009t0017g0055others(5): Show | 8 | HG01891.hp2 HG02615.hp2 HG02970.hp2 others(5): Show |
intron_variant | MODIFIER | c.456+1176A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42500092 | ||||||
| chr1:42500214
|
G | A | 2 | a0001c0021t0045g0049a0003c0022t0046g0050 | 2 | HG02559.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.456+1298G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42500214 | ||||||
| chr1:42500254
|
A | G | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.456+1338A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42500254 | ||||||
| chr1:42500291
|
T | G | 1 | a0003c0012t0048g0062 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.456+1375T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42500291 | ||||||
| chr1:42500299
|
T | C | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.456+1383T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42500299 | ||||||
| chr1:42500318
|
C | G | 46 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(43): Show | 46 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(43): Show |
intron_variant | MODIFIER | c.456+1402C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42500318 | ||||||
| chr1:42500366
|
T | C | 319 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(316): Show | 320 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(317): Show |
intron_variant | MODIFIER | c.456+1450T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42500366 | ||||||
| chr1:42500419
|
C | CT | 50 | a0001c0002t0002g0204a0002c0003t0003g0011a0002c0003t0003g0012others(47): Show | 50 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(47): Show |
intron_variant | MODIFIER | c.456+1515dupT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42500419 | |||||
| chr1:42500475
|
G | A | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.456+1559G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42500475 | ||||||
| chr1:42500500
|
G | A | 16 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0006t0004g0311others(13): Show | 16 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(13): Show |
intron_variant | MODIFIER | c.456+1584G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42500500 | ||||||
| chr1:42500659
|
C | T | 16 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0006t0004g0311others(13): Show | 16 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(13): Show |
intron_variant | MODIFIER | c.456+1743C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42500659 | ||||||
| chr1:42500763
|
GT | G | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.456+1854delT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42500763 | |||||
| chr1:42500834
|
C | T | 6 | a0001c0002t0002g0246a0001c0002t0002g0247a0001c0002t0002g0248others(3): Show | 6 | HG00621.hp2 NA18949.hp2 NA18971.hp2 others(3): Show |
intron_variant | MODIFIER | c.456+1918C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42500834 | ||||||
| chr1:42500879
|
G | A | 172 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(169): Show | 172 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(169): Show |
intron_variant | MODIFIER | c.456+1963G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42500879 | ||||||
| chr1:42500879
|
G | T | 5 | a0001c0006t0005g0320a0001c0006t0008g0318a0001c0006t0008g0321others(2): Show | 5 | HG02145.hp1 HG02717.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.456+1963G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42500879 | ||||||
| chr1:42500933
|
G | A | 8 | a0001c0004t0022g0059a0001c0004t0022g0060a0001c0009t0017g0055others(5): Show | 8 | HG01891.hp2 HG02615.hp2 HG02970.hp2 others(5): Show |
intron_variant | MODIFIER | c.456+2017G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42500933 | ||||||
| chr1:42501062
|
G | A | 1 | a0002c0003t0003g0027 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.456+2146G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42501062 | ||||||
| chr1:42501069
|
G | A | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.456+2153G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42501069 | ||||||
| chr1:42501103
|
C | T | 1 | a0001c0001t0001g0135 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.456+2187C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42501103 | ||||||
| chr1:42501232
|
T | C | 1 | a0001c0001t0007g0149 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.456+2316T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42501232 | ||||||
| chr1:42501235
|
A | AT | 99 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(96): Show | 99 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(96): Show |
intron_variant | MODIFIER | c.456+2324dupT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42501235 | |||||
| chr1:42501272
|
G | A | 27 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(24): Show | 27 | HG00099.hp1 HG00741.hp2 HG01071.hp2 others(24): Show |
intron_variant | MODIFIER | c.456+2356G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42501272 | ||||||
| chr1:42501307
|
T | C | 185 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(182): Show | 185 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(182): Show |
intron_variant | MODIFIER | c.456+2391T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42501307 | ||||||
| chr1:42501389
|
A | G | 9 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(6): Show | 9 | HG01167.hp2 HG02109.hp2 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.456+2473A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42501389 | ||||||
| chr1:42501395
|
A | G | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.456+2479A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42501395 | ||||||
| chr1:42501448
|
C | G | 10 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(7): Show | 10 | HG01167.hp2 HG02109.hp2 HG02572.hp2 others(7): Show |
intron_variant | MODIFIER | c.456+2532C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42501448 | ||||||
| chr1:42501477
|
T | G | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.456+2561T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42501477 | ||||||
| chr1:42501582
|
G | A | 1 | a0001c0004t0004g0269 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.456+2666G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42501582 | ||||||
| chr1:42501632
|
T | G | 1 | a0001c0021t0045g0049 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.456+2716T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42501632 | ||||||
| chr1:42501698
|
C | G | 313 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(310): Show | 314 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(311): Show |
intron_variant | MODIFIER | c.456+2782C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42501698 | ||||||
| chr1:42501735
|
G | A | 5 | a0001c0006t0005g0320a0001c0006t0008g0318a0001c0006t0008g0321others(2): Show | 5 | HG02145.hp1 HG02717.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.456+2819G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42501735 | ||||||
| chr1:42501772
|
T | A | 2 | a0001c0021t0045g0049a0003c0022t0046g0050 | 2 | HG02559.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.456+2856T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42501772 | ||||||
| chr1:42501894
|
CAGG | C | 127 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(124): Show | 127 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(124): Show |
intron_variant | MODIFIER | c.456+2979_456+2981d others(5): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42501894 | ||||||
| chr1:42502053
|
A | T | 45 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(42): Show | 45 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(42): Show |
intron_variant | MODIFIER | c.456+3137A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42502053 | ||||||
| chr1:42502079
|
C | T | 2 | a0001c0021t0045g0049a0003c0022t0046g0050 | 2 | HG02559.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.456+3163C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42502079 | ||||||
| chr1:42502208
|
G | T | 1 | a0001c0001t0001g0080 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.456+3292G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42502208 | ||||||
| chr1:42502257
|
G | A | 1 | a0004c0011t0009g0004 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.456+3341G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42502257 | ||||||
| chr1:42502258
|
G | GACGTGGG others(14): Show |
2 | a0001c0005t0008g0202a0001c0005t0008g0203 | 2 | HG03209.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.456+3342_456+3343i others(23): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42502258 | ||||||
| chr1:42502259
|
G | A | 127 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(124): Show | 127 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(124): Show |
intron_variant | MODIFIER | c.456+3343G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42502259 | ||||||
| chr1:42502260
|
C | T | 7 | a0001c0001t0001g0065a0001c0001t0001g0066a0001c0001t0001g0086others(4): Show | 7 | HG00639.hp2 HG02257.hp2 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.456+3344C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42502260 | ||||||
| chr1:42502273
|
G | GAGCCATA others(14): Show |
13 | a0001c0006t0004g0311a0001c0006t0005g0320a0001c0006t0008g0314others(10): Show | 13 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(10): Show |
intron_variant | MODIFIER | c.456+3363_456+3364i others(23): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42502273 | |||||
| chr1:42502459
|
G | A | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.456+3543G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42502459 | ||||||
| chr1:42502541
|
A | G | 99 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(96): Show | 99 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(96): Show |
intron_variant | MODIFIER | c.456+3625A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42502541 | ||||||
| chr1:42502592
|
G | A | 4 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(1): Show | 4 | HG01891.hp2 HG02970.hp2 NA18522.hp2 others(1): Show |
intron_variant | MODIFIER | c.456+3676G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42502592 | ||||||
| chr1:42502647
|
A | G | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.456+3731A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42502647 | ||||||
| chr1:42502648
|
G | A | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.456+3732G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42502648 | ||||||
| chr1:42502673
|
G | A | 5 | a0001c0006t0005g0320a0001c0006t0008g0318a0001c0006t0008g0321others(2): Show | 5 | HG02145.hp1 HG02717.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.456+3757G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42502673 | ||||||
| chr1:42502696
|
C | T | 12 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(9): Show | 12 | HG01167.hp2 HG02109.hp2 HG02559.hp2 others(9): Show |
intron_variant | MODIFIER | c.456+3780C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42502696 | ||||||
| chr1:42502706
|
C | T | 100 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(97): Show | 101 | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(98): Show |
intron_variant | MODIFIER | c.456+3790C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42502706 | ||||||
| chr1:42503029
|
C | T | 1 | a0002c0003t0034g0015 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.456+4113C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42503029 | ||||||
| chr1:42503095
|
G | A | 99 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(96): Show | 99 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(96): Show |
intron_variant | MODIFIER | c.456+4179G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42503095 | ||||||
| chr1:42503210
|
G | A | 2 | a0001c0001t0001g0069a0001c0001t0001g0070 | 2 | HG00735.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.456+4294G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42503210 | ||||||
| chr1:42503238
|
A | C | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.456+4322A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42503238 | ||||||
| chr1:42503244
|
A | G | 8 | a0001c0004t0022g0059a0001c0004t0022g0060a0001c0009t0017g0055others(5): Show | 8 | HG01891.hp2 HG02615.hp2 HG02970.hp2 others(5): Show |
intron_variant | MODIFIER | c.456+4328A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42503244 | ||||||
| chr1:42503434
|
G | T | 13 | a0001c0006t0004g0311a0001c0006t0005g0320a0001c0006t0008g0314others(10): Show | 13 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(10): Show |
intron_variant | MODIFIER | c.456+4518G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42503434 | ||||||
| chr1:42503462
|
C | T | 1 | a0003c0024t0012g0290 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.456+4546C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42503462 | ||||||
| chr1:42503754
|
C | T | 1 | a0001c0010t0005g0277 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.456+4838C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42503754 | ||||||
| chr1:42503890
|
C | A | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.456+4974C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42503890 | ||||||
| chr1:42504044
|
C | G | 1 | a0001c0006t0008g0322 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.456+5128C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42504044 | ||||||
| chr1:42504145
|
C | T | 2 | a0002c0003t0003g0026a0002c0003t0014g0038 | 2 | HG01928.hp2 HG02148.hp2 |
intron_variant | MODIFIER | c.456+5229C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42504145 | ||||||
| chr1:42504208
|
G | A | 1 | a0006c0029t0039g0052 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.456+5292G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42504208 | ||||||
| chr1:42504283
|
A | G | 312 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(309): Show | 313 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(310): Show |
intron_variant | MODIFIER | c.456+5367A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42504283 | ||||||
| chr1:42504354
|
A | C | 2 | a0001c0001t0001g0147a0001c0001t0001g0148 | 2 | HG00280.hp2 NA19054.hp1 |
intron_variant | MODIFIER | c.456+5438A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42504354 | ||||||
| chr1:42504409
|
C | T | 1 | a0006c0029t0039g0052 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.456+5493C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42504409 | ||||||
| chr1:42504422
|
A | G | 179 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(176): Show | 179 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(176): Show |
intron_variant | MODIFIER | c.456+5506A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42504422 | ||||||
| chr1:42504430
|
G | A | 9 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(6): Show | 9 | HG01167.hp2 HG02109.hp2 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.456+5514G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42504430 | ||||||
| chr1:42504490
|
C | T | 1 | a0003c0022t0046g0050 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.456+5574C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42504490 | ||||||
| chr1:42504537
|
T | C | 179 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(176): Show | 179 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(176): Show |
intron_variant | MODIFIER | c.456+5621T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42504537 | ||||||
| chr1:42504540
|
C | T | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.456+5624C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42504540 | ||||||
| chr1:42504544
|
C | G | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.456+5628C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42504544 | ||||||
| chr1:42504563
|
A | G | 1 | a0001c0001t0006g0143 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.456+5647A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42504563 | ||||||
| chr1:42504737
|
C | T | 1 | a0001c0001t0001g0085 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.456+5821C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42504737 | ||||||
| chr1:42504919
|
A | G | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.456+6003A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42504919 | ||||||
| chr1:42505214
|
G | GA | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.456+6301dupA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42505214 | |||||
| chr1:42505402
|
C | T | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.456+6486C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42505402 | ||||||
| chr1:42505415
|
G | A | 99 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(96): Show | 99 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(96): Show |
intron_variant | MODIFIER | c.456+6499G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42505415 | ||||||
| chr1:42505453
|
A | C | 1 | a0001c0001t0018g0096 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.456+6537A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42505453 | ||||||
| chr1:42505624
|
T | C | 100 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(97): Show | 101 | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(98): Show |
intron_variant | MODIFIER | c.456+6708T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42505624 | ||||||
| chr1:42505748
|
C | G | 1 | a0001c0001t0018g0095 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.456+6832C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42505748 | ||||||
| chr1:42505852
|
T | C | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.456+6936T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42505852 | ||||||
| chr1:42506014
|
T | C | 1 | a0001c0004t0009g0214 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.456+7098T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42506014 | ||||||
| chr1:42506069
|
A | G | 1 | a0001c0004t0004g0267 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.456+7153A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42506069 | ||||||
| chr1:42506235
|
G | C | 1 | a0006c0029t0039g0052 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.456+7319G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42506235 | ||||||
| chr1:42506266
|
T | C | 1 | a0001c0021t0045g0049 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.456+7350T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42506266 | ||||||
| chr1:42506295
|
G | A | 177 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(174): Show | 177 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(174): Show |
intron_variant | MODIFIER | c.456+7379G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42506295 | ||||||
| chr1:42506342
|
T | C | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.456+7426T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42506342 | ||||||
| chr1:42506387
|
A | G | 1 | a0001c0002t0002g0259 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.456+7471A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42506387 | ||||||
| chr1:42506407
|
C | G | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.456+7491C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42506407 | ||||||
| chr1:42506439
|
A | C | 12 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(9): Show | 12 | HG01167.hp2 HG02109.hp2 HG02559.hp2 others(9): Show |
intron_variant | MODIFIER | c.456+7523A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42506439 | ||||||
| chr1:42506936
|
AT | A | 5 | a0001c0006t0005g0320a0001c0006t0008g0318a0001c0006t0008g0321others(2): Show | 5 | HG02145.hp1 HG02717.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.456+8028delT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42506936 | |||||
| chr1:42507012
|
T | A | 1 | a0002c0003t0003g0025 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.456+8096T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42507012 | ||||||
| chr1:42507014
|
C | A | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.456+8098C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42507014 | ||||||
| chr1:42507021
|
G | T | 99 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(96): Show | 99 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(96): Show |
intron_variant | MODIFIER | c.456+8105G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42507021 | ||||||
| chr1:42507106
|
T | C | 8 | a0001c0004t0022g0059a0001c0004t0022g0060a0001c0009t0017g0055others(5): Show | 8 | HG01891.hp2 HG02615.hp2 HG02970.hp2 others(5): Show |
intron_variant | MODIFIER | c.456+8190T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42507106 | ||||||
| chr1:42507118
|
G | A | 2 | a0001c0001t0006g0187a0001c0001t0006g0192 | 2 | HG01934.hp1 HG02300.hp2 |
intron_variant | MODIFIER | c.456+8202G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42507118 | ||||||
| chr1:42507127
|
G | A | 185 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(182): Show | 185 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(182): Show |
intron_variant | MODIFIER | c.456+8211G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42507127 | ||||||
| chr1:42507173
|
C | T | 2 | a0001c0005t0008g0202a0001c0005t0008g0203 | 2 | HG03209.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.456+8257C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42507173 | ||||||
| chr1:42507217
|
G | A | 99 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(96): Show | 99 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(96): Show |
intron_variant | MODIFIER | c.456+8301G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42507217 | ||||||
| chr1:42507253
|
C | T | 1 | a0002c0003t0003g0043 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.456+8337C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42507253 | ||||||
| chr1:42507254
|
A | G | 45 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(42): Show | 45 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(42): Show |
intron_variant | MODIFIER | c.456+8338A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42507254 | ||||||
| chr1:42507364
|
T | C | 27 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(24): Show | 27 | HG00099.hp1 HG00741.hp2 HG01071.hp2 others(24): Show |
intron_variant | MODIFIER | c.456+8448T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42507364 | ||||||
| chr1:42507388
|
A | G | 1 | a0001c0001t0001g0139 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.456+8472A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42507388 | ||||||
| chr1:42507397
|
T | C | 99 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(96): Show | 99 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(96): Show |
intron_variant | MODIFIER | c.456+8481T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42507397 | ||||||
| chr1:42507428
|
A | G | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.456+8512A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42507428 | ||||||
| chr1:42507503
|
T | A | 1 | a0002c0003t0003g0025 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.456+8587T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42507503 | ||||||
| chr1:42507640
|
A | C | 1 | a0002c0003t0003g0025 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.456+8724A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42507640 | ||||||
| chr1:42507736
|
A | ATAGT | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.456+8824_456+8827d others(6): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42507736 | |||||
| chr1:42507839
|
C | T | 213 | a0001c0001t0001g0175a0001c0001t0001g0198a0001c0001t0006g0171others(210): Show | 213 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(210): Show |
intron_variant | MODIFIER | c.456+8923C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42507839 | ||||||
| chr1:42507877
|
A | AT | 44 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(41): Show | 44 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(41): Show |
intron_variant | MODIFIER | c.456+8965dupT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42507877 | |||||
| chr1:42507882
|
A | T | 1 | a0002c0003t0003g0025 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.456+8966A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42507882 | ||||||
| chr1:42507883
|
C | A | 1 | a0002c0003t0003g0025 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.456+8967C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42507883 | ||||||
| chr1:42507899
|
CT | C | 9 | a0001c0004t0022g0059a0001c0004t0022g0060a0001c0009t0017g0055others(6): Show | 9 | HG01891.hp2 HG02615.hp2 HG02970.hp2 others(6): Show |
intron_variant | MODIFIER | c.456+8989delT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42507899 | |||||
| chr1:42507995
|
A | C | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.456+9079A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42507995 | ||||||
| chr1:42508177
|
G | T | 1 | a0002c0003t0003g0025 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.456+9261G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42508177 | ||||||
| chr1:42508335
|
T | G | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.456+9419T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42508335 | ||||||
| chr1:42508362
|
C | G | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.456+9446C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42508362 | ||||||
| chr1:42508404
|
G | A | 9 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(6): Show | 9 | HG01167.hp2 HG02109.hp2 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.456+9488G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42508404 | ||||||
| chr1:42508462
|
T | A | 1 | a0002c0003t0003g0025 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.456+9546T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42508462 | ||||||
| chr1:42508470
|
A | G | 1 | a0001c0001t0001g0086 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.456+9554A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42508470 | ||||||
| chr1:42508580
|
G | A | 19 | a0001c0001t0001g0068a0001c0001t0006g0100a0001c0005t0008g0202others(16): Show | 19 | HG01243.hp2 HG01884.hp1 HG01884.hp2 others(16): Show |
intron_variant | MODIFIER | c.456+9664G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42508580 | ||||||
| chr1:42508590
|
A | G | 1 | a0002c0003t0003g0037 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.456+9674A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42508590 | ||||||
| chr1:42508630
|
C | T | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.456+9714C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42508630 | ||||||
| chr1:42508641
|
A | G | 8 | a0001c0004t0022g0059a0001c0004t0022g0060a0001c0009t0017g0055others(5): Show | 8 | HG01891.hp2 HG02615.hp2 HG02970.hp2 others(5): Show |
intron_variant | MODIFIER | c.456+9725A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42508641 | ||||||
| chr1:42508664
|
C | T | 46 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(43): Show | 46 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(43): Show |
intron_variant | MODIFIER | c.456+9748C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42508664 | ||||||
| chr1:42508665
|
G | A | 1 | a0003c0022t0046g0050 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.456+9749G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42508665 | ||||||
| chr1:42508685
|
T | G | 1 | a0002c0003t0003g0025 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.456+9769T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42508685 | ||||||
| chr1:42508883
|
A | T | 1 | a0002c0003t0003g0025 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.456+9967A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42508883 | ||||||
| chr1:42508891
|
C | G | 1 | a0001c0009t0017g0057 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.456+9975C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42508891 | ||||||
| chr1:42508988
|
G | C | 1 | a0002c0003t0003g0028 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.456+10072G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42508988 | ||||||
| chr1:42509113
|
C | A | 27 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(24): Show | 27 | HG00099.hp1 HG00741.hp2 HG01071.hp2 others(24): Show |
intron_variant | MODIFIER | c.456+10197C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42509113 | ||||||
| chr1:42509308
|
A | G | 8 | a0001c0004t0022g0059a0001c0004t0022g0060a0001c0009t0017g0055others(5): Show | 8 | HG01891.hp2 HG02615.hp2 HG02970.hp2 others(5): Show |
intron_variant | MODIFIER | c.456+10392A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42509308 | ||||||
| chr1:42509317
|
A | T | 1 | a0002c0003t0003g0025 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.456+10401A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42509317 | ||||||
| chr1:42509345
|
T | C | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.456+10429T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42509345 | ||||||
| chr1:42509404
|
A | T | 1 | a0002c0003t0003g0025 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.456+10488A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42509404 | ||||||
| chr1:42509421
|
C | T | 16 | a0001c0001t0006g0173a0001c0005t0008g0202a0001c0005t0008g0203others(13): Show | 16 | HG01109.hp1 HG01243.hp2 HG01884.hp1 others(13): Show |
intron_variant | MODIFIER | c.456+10505C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42509421 | ||||||
| chr1:42509452
|
A | G | 99 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(96): Show | 99 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(96): Show |
intron_variant | MODIFIER | c.456+10536A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42509452 | ||||||
| chr1:42509506
|
A | G | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.456+10590A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42509506 | ||||||
| chr1:42509595
|
A | T | 12 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(9): Show | 12 | HG01167.hp2 HG02109.hp2 HG02559.hp2 others(9): Show |
intron_variant | MODIFIER | c.456+10679A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42509595 | ||||||
| chr1:42509599
|
G | A | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.456+10683G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42509599 | ||||||
| chr1:42509666
|
C | T | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.456+10750C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42509666 | ||||||
| chr1:42509887
|
G | A | 2 | a0002c0003t0003g0030a0002c0003t0014g0029 | 2 | NA18612.hp1 NA18975.hp1 |
intron_variant | MODIFIER | c.456+10971G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42509887 | ||||||
| chr1:42510029
|
GA | G | 9 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(6): Show | 9 | HG01167.hp2 HG02109.hp2 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.456+11118delA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42510029 | |||||
| chr1:42510048
|
T | A | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.456+11132T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42510048 | ||||||
| chr1:42510092
|
T | C | 1 | a0002c0003t0004g0008 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.456+11176T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42510092 | ||||||
| chr1:42510110
|
A | C | 2 | a0001c0001t0006g0186a0001c0001t0006g0193 | 2 | HG01099.hp1 HG01975.hp1 |
intron_variant | MODIFIER | c.456+11194A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42510110 | ||||||
| chr1:42510119
|
G | A | 2 | a0001c0001t0006g0186a0001c0001t0006g0193 | 2 | HG01099.hp1 HG01975.hp1 |
intron_variant | MODIFIER | c.456+11203G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42510119 | ||||||
| chr1:42510129
|
T | A | 1 | a0002c0003t0003g0025 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.456+11213T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42510129 | ||||||
| chr1:42510134
|
G | C | 2 | a0001c0001t0006g0186a0001c0001t0006g0193 | 2 | HG01099.hp1 HG01975.hp1 |
intron_variant | MODIFIER | c.456+11218G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42510134 | ||||||
| chr1:42510228
|
T | C | 12 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(9): Show | 12 | HG01167.hp2 HG02109.hp2 HG02559.hp2 others(9): Show |
intron_variant | MODIFIER | c.456+11312T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42510228 | ||||||
| chr1:42510240
|
A | G | 3 | a0001c0001t0001g0161a0001c0001t0024g0145a0001c0001t0027g0094 | 3 | HG02056.hp1 HG02602.hp1 HG03704.hp2 |
intron_variant | MODIFIER | c.456+11324A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42510240 | ||||||
| chr1:42510282
|
C | T | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.456+11366C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42510282 | ||||||
| chr1:42510444
|
G | T | 3 | a0001c0001t0011g0183a0001c0001t0011g0184a0001c0001t0013g0185 | 3 | HG03831.hp2 NA20752.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.456+11528G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42510444 | ||||||
| chr1:42510530
|
G | A | 127 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(124): Show | 127 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(124): Show |
intron_variant | MODIFIER | c.456+11614G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42510530 | ||||||
| chr1:42510562
|
C | T | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.456+11646C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42510562 | ||||||
| chr1:42510613
|
C | T | 12 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(9): Show | 12 | HG01167.hp2 HG02109.hp2 HG02559.hp2 others(9): Show |
intron_variant | MODIFIER | c.456+11697C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42510613 | ||||||
| chr1:42510614
|
G | A | 1 | a0001c0004t0004g0310 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.456+11698G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42510614 | ||||||
| chr1:42510656
|
C | CA | 32 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(29): Show | 32 | HG00099.hp1 HG00741.hp2 HG01071.hp2 others(29): Show |
intron_variant | MODIFIER | c.456+11755dupA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42510656 | |||||
| chr1:42510656
|
CA | C | 12 | a0001c0001t0001g0084a0001c0002t0021g0256a0001c0004t0003g0291others(9): Show | 12 | HG01167.hp1 HG01169.hp2 HG01243.hp1 others(9): Show |
intron_variant | MODIFIER | c.456+11755delA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42510656 | |||||
| chr1:42510672
|
T | C | 46 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(43): Show | 46 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(43): Show |
intron_variant | MODIFIER | c.456+11756T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42510672 | ||||||
| chr1:42510700
|
A | G | 3 | a0001c0002t0002g0215a0001c0002t0002g0244a0001c0002t0002g0245 | 3 | HG00558.hp1 HG02056.hp2 HG02080.hp1 |
intron_variant | MODIFIER | c.456+11784A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42510700 | ||||||
| chr1:42510773
|
C | G | 1 | a0001c0001t0001g0198 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.456+11857C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42510773 | ||||||
| chr1:42510917
|
A | T | 1 | a0002c0003t0003g0025 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.456+12001A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42510917 | ||||||
| chr1:42511097
|
T | C | 1 | a0001c0004t0009g0272 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.456+12181T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42511097 | ||||||
| chr1:42511180
|
T | C | 179 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(176): Show | 179 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(176): Show |
intron_variant | MODIFIER | c.456+12264T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42511180 | ||||||
| chr1:42511232
|
G | T | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.456+12316G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42511232 | ||||||
| chr1:42511256
|
G | A | 1 | a0001c0001t0001g0066 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.456+12340G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42511256 | ||||||
| chr1:42511271
|
C | T | 2 | a0001c0001t0023g0128a0005c0020t0008g0002 | 2 | HG02622.hp1 NA18977.hp2 |
intron_variant | MODIFIER | c.456+12355C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42511271 | ||||||
| chr1:42511276
|
G | T | 1 | a0003c0014t0029g0064 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.456+12360G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42511276 | ||||||
| chr1:42511298
|
C | T | 1 | a0001c0001t0001g0127 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.456+12382C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42511298 | ||||||
| chr1:42511337
|
G | T | 39 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(36): Show | 39 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(36): Show |
intron_variant | MODIFIER | c.456+12421G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42511337 | ||||||
| chr1:42511340
|
A | G | 2 | a0001c0005t0008g0202a0001c0005t0008g0203 | 2 | HG03209.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.456+12424A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42511340 | ||||||
| chr1:42511342
|
A | G | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.456+12426A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42511342 | ||||||
| chr1:42511404
|
C | T | 4 | a0001c0001t0001g0001a0001c0001t0001g0125a0001c0001t0001g0126others(1): Show | 5 | HG01099.hp2 HG03491.hp2 HG03492.hp2 others(2): Show |
intron_variant | MODIFIER | c.456+12488C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42511404 | ||||||
| chr1:42511424
|
C | T | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.456+12508C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42511424 | ||||||
| chr1:42511425
|
C | T | 1 | a0001c0010t0005g0278 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.456+12509C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42511425 | ||||||
| chr1:42511565
|
C | T | 1 | a0002c0003t0009g0007 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.456+12649C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42511565 | ||||||
| chr1:42511736
|
A | T | 27 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(24): Show | 27 | HG00099.hp1 HG00741.hp2 HG01071.hp2 others(24): Show |
intron_variant | MODIFIER | c.456+12820A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42511736 | ||||||
| chr1:42512010
|
T | C | 100 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(97): Show | 101 | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(98): Show |
intron_variant | MODIFIER | c.456+13094T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42512010 | ||||||
| chr1:42512208
|
C | T | 45 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(42): Show | 45 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(42): Show |
intron_variant | MODIFIER | c.456+13292C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42512208 | ||||||
| chr1:42512243
|
C | T | 99 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(96): Show | 99 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(96): Show |
intron_variant | MODIFIER | c.456+13327C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42512243 | ||||||
| chr1:42512304
|
T | A | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.456+13388T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42512304 | ||||||
| chr1:42512319
|
G | A | 45 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(42): Show | 45 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(42): Show |
intron_variant | MODIFIER | c.456+13403G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42512319 | ||||||
| chr1:42512495
|
T | C | 6 | a0001c0006t0008g0314a0001c0007t0005g0313a0001c0007t0005g0315others(3): Show | 6 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(3): Show |
intron_variant | MODIFIER | c.456+13579T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42512495 | ||||||
| chr1:42512516
|
A | G | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.456+13600A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42512516 | ||||||
| chr1:42512571
|
C | T | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.456+13655C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42512571 | ||||||
| chr1:42512878
|
C | T | 1 | a0001c0004t0004g0258 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.456+13962C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42512878 | ||||||
| chr1:42512879
|
A | G | 177 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(174): Show | 177 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(174): Show |
intron_variant | MODIFIER | c.456+13963A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42512879 | ||||||
| chr1:42512920
|
C | T | 1 | a0001c0001t0001g0070 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.456+14004C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42512920 | ||||||
| chr1:42512921
|
G | A | 1 | a0001c0001t0001g0071 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.456+14005G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42512921 | ||||||
| chr1:42513192
|
G | A | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.456+14276G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42513192 | ||||||
| chr1:42513234
|
T | C | 2 | a0001c0001t0024g0145a0001c0001t0027g0094 | 2 | HG02602.hp1 HG03704.hp2 |
intron_variant | MODIFIER | c.456+14318T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42513234 | ||||||
| chr1:42513270
|
A | G | 264 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(261): Show | 265 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(262): Show |
intron_variant | MODIFIER | c.456+14354A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42513270 | ||||||
| chr1:42513270
|
A | T | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.456+14354A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42513270 | ||||||
| chr1:42513464
|
A | G | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.456+14548A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42513464 | ||||||
| chr1:42513494
|
G | A | 13 | a0001c0006t0004g0311a0001c0006t0005g0320a0001c0006t0008g0314others(10): Show | 13 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(10): Show |
intron_variant | MODIFIER | c.456+14578G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42513494 | ||||||
| chr1:42513525
|
G | T | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.456+14609G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42513525 | ||||||
| chr1:42513609
|
C | T | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.456+14693C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42513609 | ||||||
| chr1:42513612
|
A | G | 1 | a0001c0001t0001g0198 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.456+14696A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42513612 | ||||||
| chr1:42513620
|
T | C | 1 | a0001c0002t0002g0216 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.456+14704T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42513620 | ||||||
| chr1:42513653
|
T | G | 1 | a0003c0015t0041g0308 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.456+14737T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42513653 | ||||||
| chr1:42513749
|
C | T | 2 | a0001c0001t0001g0123a0001c0001t0001g0124 | 2 | NA18941.hp1 NA18980.hp2 |
intron_variant | MODIFIER | c.456+14833C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42513749 | ||||||
| chr1:42513766
|
C | T | 4 | a0001c0001t0006g0171a0001c0001t0006g0173a0001c0001t0011g0172others(1): Show | 4 | HG01109.hp1 HG01361.hp2 HG03704.hp1 others(1): Show |
intron_variant | MODIFIER | c.456+14850C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42513766 | ||||||
| chr1:42513789
|
C | T | 1 | a0001c0021t0045g0049 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.456+14873C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42513789 | ||||||
| chr1:42513839
|
A | G | 2 | a0001c0002t0002g0242a0001c0002t0002g0243 | 2 | NA18968.hp1 NA18970.hp2 |
intron_variant | MODIFIER | c.456+14923A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42513839 | ||||||
| chr1:42514008
|
G | A | 39 | a0001c0002t0002g0281a0001c0002t0002g0287a0001c0002t0044g0257others(36): Show | 39 | HG00438.hp1 HG00673.hp1 HG01069.hp2 others(36): Show |
intron_variant | MODIFIER | c.456+15092G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42514008 | ||||||
| chr1:42514204
|
G | A | 1 | a0002c0016t0020g0010 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.456+15288G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42514204 | ||||||
| chr1:42514275
|
T | C | 1 | a0001c0001t0006g0189 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.456+15359T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42514275 | ||||||
| chr1:42514389
|
T | C | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.456+15473T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42514389 | ||||||
| chr1:42514509
|
TTTCAAGT others(12): Show |
T | 3 | a0001c0002t0002g0205a0001c0002t0002g0207a0001c0004t0015g0206 | 3 | NA18612.hp2 NA18944.hp2 NA19075.hp1 |
intron_variant | MODIFIER | c.456+15596_456+1561 others(23): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42514509 | |||||
| chr1:42514598
|
T | G | 2 | a0001c0021t0045g0049a0003c0022t0046g0050 | 2 | HG02559.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.456+15682T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42514598 | ||||||
| chr1:42514715
|
G | A | 6 | a0002c0003t0003g0011a0002c0003t0003g0027a0002c0003t0003g0042others(3): Show | 6 | HG01074.hp1 HG01433.hp2 HG01496.hp2 others(3): Show |
intron_variant | MODIFIER | c.456+15799G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42514715 | ||||||
| chr1:42514798
|
C | T | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.456+15882C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42514798 | ||||||
| chr1:42514950
|
GC | G | 99 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(96): Show | 99 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(96): Show |
intron_variant | MODIFIER | c.456+16036delC | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42514950 | |||||
| chr1:42515207
|
C | CA | 161 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(158): Show | 162 | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(159): Show |
intron_variant | MODIFIER | c.456+16304dupA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42515207 | |||||
| chr1:42515207
|
C | CAA | 102 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(99): Show | 102 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(99): Show |
intron_variant | MODIFIER | c.456+16303_456+1630 others(6): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42515207 | |||||
| chr1:42515207
|
C | CAG | 6 | a0001c0002t0002g0281a0001c0004t0004g0280a0001c0004t0004g0282others(3): Show | 6 | HG00673.hp1 HG02129.hp2 NA19002.hp2 others(3): Show |
intron_variant | MODIFIER | c.456+16292_456+1629 others(6): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42515207 | |||||
| chr1:42515262
|
A | C | 1 | a0003c0008t0012g0289 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.456+16346A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42515262 | ||||||
| chr1:42515495
|
G | A | 100 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(97): Show | 101 | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(98): Show |
intron_variant | MODIFIER | c.456+16579G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42515495 | ||||||
| chr1:42515544
|
G | A | 1 | a0001c0001t0001g0085 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.456+16628G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42515544 | ||||||
| chr1:42515622
|
C | G | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.456+16706C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42515622 | ||||||
| chr1:42515715
|
C | G | 4 | a0001c0004t0022g0059a0001c0004t0022g0060a0003c0012t0048g0062others(1): Show | 4 | HG02615.hp2 HG03471.hp2 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.456+16799C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42515715 | ||||||
| chr1:42515928
|
A | G | 1 | a0001c0002t0002g0253 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.456+17012A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42515928 | ||||||
| chr1:42516075
|
G | A | 27 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(24): Show | 27 | HG00099.hp1 HG00741.hp2 HG01071.hp2 others(24): Show |
intron_variant | MODIFIER | c.456+17159G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42516075 | ||||||
| chr1:42516086
|
A | C | 1 | a0001c0001t0001g0101 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.456+17170A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42516086 | ||||||
| chr1:42516163
|
C | T | 1 | a0001c0002t0002g0241 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.456+17247C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42516163 | ||||||
| chr1:42516165
|
G | A | 1 | a0001c0005t0036g0309 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.456+17249G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42516165 | ||||||
| chr1:42516345
|
G | A | 2 | a0001c0001t0001g0175a0001c0002t0002g0217 | 2 | HG01071.hp2 NA18962.hp1 |
intron_variant | MODIFIER | c.456+17429G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42516345 | ||||||
| chr1:42516407
|
A | G | 178 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(175): Show | 178 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(175): Show |
intron_variant | MODIFIER | c.456+17491A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42516407 | ||||||
| chr1:42516571
|
C | CA | 127 | a0001c0001t0001g0065a0001c0001t0001g0066a0001c0001t0001g0085others(124): Show | 127 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(124): Show |
intron_variant | MODIFIER | c.456+17674dupA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42516571 | |||||
| chr1:42516571
|
C | CAA | 67 | a0001c0001t0013g0170a0001c0002t0002g0204a0001c0002t0002g0215others(64): Show | 67 | HG00323.hp2 HG00609.hp2 HG00733.hp1 others(64): Show |
intron_variant | MODIFIER | c.456+17673_456+1767 others(6): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42516571 | |||||
| chr1:42516635
|
G | A | 1 | a0001c0004t0004g0200 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.456+17719G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42516635 | ||||||
| chr1:42516667
|
AT | A | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.456+17756delT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42516667 | |||||
| chr1:42516788
|
T | G | 1 | a0001c0009t0047g0058 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.456+17872T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42516788 | ||||||
| chr1:42516865
|
T | C | 1 | a0001c0004t0004g0267 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.456+17949T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42516865 | ||||||
| chr1:42516973
|
A | T | 2 | a0001c0005t0008g0202a0001c0005t0008g0203 | 2 | HG03209.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.456+18057A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42516973 | ||||||
| chr1:42517062
|
G | A | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.456+18146G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42517062 | ||||||
| chr1:42517349
|
G | A | 1 | a0002c0003t0003g0033 | 1 | NA18950.hp2 | intron_variant | MODIFIER | c.456+18433G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42517349 | ||||||
| chr1:42517534
|
G | T | 46 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(43): Show | 46 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(43): Show |
intron_variant | MODIFIER | c.456+18618G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42517534 | ||||||
| chr1:42517595
|
G | A | 15 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0006t0004g0311others(12): Show | 15 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(12): Show |
intron_variant | MODIFIER | c.456+18679G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42517595 | ||||||
| chr1:42517641
|
T | TTC | 178 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(175): Show | 178 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(175): Show |
intron_variant | MODIFIER | c.456+18726_456+1872 others(6): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42517641 | |||||
| chr1:42517742
|
G | A | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.457-18734G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42517742 | ||||||
| chr1:42517747
|
A | G | 2 | a0002c0003t0003g0045a0002c0003t0003g0046 | 2 | HG01175.hp1 HG01515.hp2 |
intron_variant | MODIFIER | c.457-18729A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42517747 | ||||||
| chr1:42517750
|
A | G | 9 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(6): Show | 9 | HG01167.hp2 HG02109.hp2 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.457-18726A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42517750 | ||||||
| chr1:42517769
|
A | G | 1 | a0001c0001t0001g0144 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.457-18707A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42517769 | ||||||
| chr1:42517787
|
G | A | 50 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(47): Show | 50 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(47): Show |
intron_variant | MODIFIER | c.457-18689G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42517787 | ||||||
| chr1:42517826
|
C | G | 1 | a0001c0013t0031g0129 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.457-18650C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42517826 | ||||||
| chr1:42517910
|
C | T | 1 | a0001c0001t0001g0066 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.457-18566C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42517910 | ||||||
| chr1:42517944
|
T | G | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.457-18532T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42517944 | ||||||
| chr1:42518199
|
T | A | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.457-18277T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42518199 | ||||||
| chr1:42518221
|
C | G | 313 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(310): Show | 314 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(311): Show |
intron_variant | MODIFIER | c.457-18255C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42518221 | ||||||
| chr1:42518282
|
A | G | 1 | a0001c0001t0001g0198 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.457-18194A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42518282 | ||||||
| chr1:42518285
|
G | T | 1 | a0001c0013t0031g0129 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.457-18191G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42518285 | ||||||
| chr1:42518385
|
A | G | 1 | a0001c0002t0002g0245 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.457-18091A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42518385 | ||||||
| chr1:42518417
|
G | A | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.457-18059G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42518417 | ||||||
| chr1:42518454
|
C | A | 2 | a0001c0010t0005g0277a0008c0027t0014g0273 | 2 | NA18940.hp2 NA18945.hp1 |
intron_variant | MODIFIER | c.457-18022C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42518454 | ||||||
| chr1:42518541
|
A | G | 2 | a0001c0021t0045g0049a0003c0022t0046g0050 | 2 | HG02559.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.457-17935A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42518541 | ||||||
| chr1:42518639
|
T | A | 1 | a0001c0001t0023g0128 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.457-17837T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42518639 | ||||||
| chr1:42518644
|
G | A | 3 | a0002c0003t0003g0017a0002c0003t0003g0018a0002c0003t0003g0019 | 3 | NA18966.hp2 NA18972.hp1 NA19001.hp1 |
intron_variant | MODIFIER | c.457-17832G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42518644 | ||||||
| chr1:42518724
|
A | G | 1 | a0003c0015t0041g0308 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.457-17752A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42518724 | ||||||
| chr1:42518816
|
C | T | 1 | a0001c0021t0045g0049 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.457-17660C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42518816 | ||||||
| chr1:42518895
|
T | C | 1 | a0001c0002t0002g0259 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.457-17581T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42518895 | ||||||
| chr1:42519020
|
G | A | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.457-17456G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42519020 | ||||||
| chr1:42519214
|
G | T | 45 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(42): Show | 45 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(42): Show |
intron_variant | MODIFIER | c.457-17262G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42519214 | ||||||
| chr1:42519288
|
T | C | 15 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0006t0004g0311others(12): Show | 15 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(12): Show |
intron_variant | MODIFIER | c.457-17188T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42519288 | ||||||
| chr1:42519615
|
C | T | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.457-16861C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42519615 | ||||||
| chr1:42519751
|
C | T | 1 | a0001c0002t0002g0240 | 1 | NA18980.hp1 | intron_variant | MODIFIER | c.457-16725C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42519751 | ||||||
| chr1:42519781
|
C | T | 1 | a0005c0018t0026g0168 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.457-16695C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42519781 | ||||||
| chr1:42519788
|
T | G | 2 | a0001c0002t0002g0219a0001c0002t0002g0241 | 2 | HG00735.hp1 HG02735.hp1 |
intron_variant | MODIFIER | c.457-16688T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42519788 | ||||||
| chr1:42519795
|
C | T | 5 | a0001c0006t0005g0320a0001c0006t0008g0318a0001c0006t0008g0321others(2): Show | 5 | HG02145.hp1 HG02717.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.457-16681C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42519795 | ||||||
| chr1:42519832
|
C | T | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.457-16644C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42519832 | ||||||
| chr1:42519939
|
A | G | 1 | a0001c0004t0004g0258 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.457-16537A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42519939 | ||||||
| chr1:42520160
|
G | GT | 177 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(174): Show | 177 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(174): Show |
intron_variant | MODIFIER | c.457-16312dupT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42520160 | |||||
| chr1:42520167
|
T | C | 27 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(24): Show | 27 | HG00099.hp1 HG00741.hp2 HG01071.hp2 others(24): Show |
intron_variant | MODIFIER | c.457-16309T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42520167 | ||||||
| chr1:42520209
|
G | A | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.457-16267G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42520209 | ||||||
| chr1:42520249
|
C | T | 1 | a0001c0001t0001g0091 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.457-16227C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42520249 | ||||||
| chr1:42520250
|
G | A | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.457-16226G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42520250 | ||||||
| chr1:42520266
|
TTCTGTA | T | 27 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(24): Show | 27 | HG00099.hp1 HG00741.hp2 HG01071.hp2 others(24): Show |
intron_variant | MODIFIER | c.457-16203_457-1619 others(10): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42520266 | |||||
| chr1:42520337
|
C | CT | 28 | a0001c0001t0001g0083a0001c0001t0001g0089a0001c0001t0001g0090others(25): Show | 28 | HG00408.hp2 HG00423.hp1 HG00438.hp2 others(25): Show |
intron_variant | MODIFIER | c.457-16127dupT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42520337 | |||||
| chr1:42520511
|
T | C | 4 | a0002c0003t0003g0016a0002c0003t0003g0032a0002c0003t0005g0031others(1): Show | 4 | HG02071.hp2 NA18986.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.457-15965T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42520511 | ||||||
| chr1:42520634
|
C | CT | 99 | a0001c0001t0001g0065a0001c0001t0001g0070a0001c0001t0001g0126others(96): Show | 99 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(96): Show |
intron_variant | MODIFIER | c.457-15818dupT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42520634 | |||||
| chr1:42520634
|
C | CTT | 31 | a0001c0002t0002g0204a0001c0002t0002g0213a0001c0002t0002g0239others(28): Show | 31 | HG00621.hp2 HG00735.hp1 HG01167.hp1 others(28): Show |
intron_variant | MODIFIER | c.457-15819_457-1581 others(6): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42520634 | |||||
| chr1:42520634
|
C | CTTT | 7 | a0001c0006t0005g0320a0001c0006t0008g0318a0001c0006t0008g0321others(4): Show | 7 | HG02055.hp1 HG02145.hp1 HG02717.hp1 others(4): Show |
intron_variant | MODIFIER | c.457-15820_457-1581 others(7): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42520634 | |||||
| chr1:42520634
|
C | CTTTT | 41 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0014others(38): Show | 41 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(38): Show |
intron_variant | MODIFIER | c.457-15821_457-1581 others(8): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42520634 | |||||
| chr1:42520634
|
C | CTTTTT | 6 | a0002c0003t0003g0013a0002c0003t0003g0019a0002c0003t0003g0039others(3): Show | 6 | HG02004.hp2 HG02896.hp1 HG04184.hp1 others(3): Show |
intron_variant | MODIFIER | c.457-15822_457-1581 others(9): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42520634 | |||||
| chr1:42520700
|
G | A | 2 | a0001c0005t0008g0202a0001c0005t0008g0203 | 2 | HG03209.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.457-15776G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42520700 | ||||||
| chr1:42520718
|
G | A | 127 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(124): Show | 127 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(124): Show |
intron_variant | MODIFIER | c.457-15758G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42520718 | ||||||
| chr1:42520739
|
C | T | 127 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(124): Show | 127 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(124): Show |
intron_variant | MODIFIER | c.457-15737C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42520739 | ||||||
| chr1:42520766
|
G | A | 1 | a0001c0001t0006g0171 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.457-15710G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42520766 | ||||||
| chr1:42520767
|
G | A | 185 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(182): Show | 185 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(182): Show |
intron_variant | MODIFIER | c.457-15709G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42520767 | ||||||
| chr1:42520893
|
T | C | 127 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(124): Show | 127 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(124): Show |
intron_variant | MODIFIER | c.457-15583T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42520893 | ||||||
| chr1:42520978
|
C | CT | 128 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(125): Show | 128 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(125): Show |
intron_variant | MODIFIER | c.457-15485dupT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42520978 | |||||
| chr1:42520978
|
C | CTT | 46 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(43): Show | 46 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(43): Show |
intron_variant | MODIFIER | c.457-15486_457-1548 others(6): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42520978 | |||||
| chr1:42521005
|
G | A | 3 | a0001c0002t0002g0205a0001c0002t0002g0207a0001c0004t0015g0206 | 3 | NA18612.hp2 NA18944.hp2 NA19075.hp1 |
intron_variant | MODIFIER | c.457-15471G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42521005 | ||||||
| chr1:42521022
|
G | A | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.457-15454G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42521022 | ||||||
| chr1:42521098
|
C | T | 1 | a0001c0002t0002g0259 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.457-15378C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42521098 | ||||||
| chr1:42521099
|
A | G | 177 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(174): Show | 177 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(174): Show |
intron_variant | MODIFIER | c.457-15377A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42521099 | ||||||
| chr1:42521108
|
G | A | 99 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(96): Show | 99 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(96): Show |
intron_variant | MODIFIER | c.457-15368G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42521108 | ||||||
| chr1:42521141
|
CT | C | 213 | a0001c0001t0001g0175a0001c0001t0001g0198a0001c0001t0006g0171others(210): Show | 213 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(210): Show |
intron_variant | MODIFIER | c.457-15324delT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42521141 | |||||
| chr1:42521201
|
A | T | 1 | a0002c0003t0009g0007 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.457-15275A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42521201 | ||||||
| chr1:42521226
|
G | A | 1 | a0001c0001t0001g0198 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.457-15250G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42521226 | ||||||
| chr1:42521285
|
T | C | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.457-15191T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42521285 | ||||||
| chr1:42521634
|
T | C | 1 | a0001c0001t0001g0137 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.457-14842T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42521634 | ||||||
| chr1:42521644
|
A | G | 1 | a0001c0017t0006g0063 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.457-14832A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42521644 | ||||||
| chr1:42521742
|
A | G | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.457-14734A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42521742 | ||||||
| chr1:42521859
|
T | C | 1 | a0001c0002t0033g0266 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.457-14617T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42521859 | ||||||
| chr1:42521934
|
G | A | 185 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(182): Show | 185 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(182): Show |
intron_variant | MODIFIER | c.457-14542G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42521934 | ||||||
| chr1:42521946
|
C | T | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.457-14530C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42521946 | ||||||
| chr1:42522183
|
C | T | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.457-14293C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42522183 | ||||||
| chr1:42522431
|
G | A | 27 | a0001c0001t0001g0082a0001c0001t0001g0085a0001c0001t0001g0091others(24): Show | 27 | HG00280.hp2 HG00558.hp2 HG01106.hp2 others(24): Show |
intron_variant | MODIFIER | c.457-14045G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42522431 | ||||||
| chr1:42522570
|
T | C | 2 | a0001c0006t0004g0311a0001c0006t0015g0312 | 2 | HG02965.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.457-13906T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42522570 | ||||||
| chr1:42522680
|
A | G | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.457-13796A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42522680 | ||||||
| chr1:42522993
|
C | T | 15 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0006t0004g0311others(12): Show | 15 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(12): Show |
intron_variant | MODIFIER | c.457-13483C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42522993 | ||||||
| chr1:42523200
|
G | A | 1 | a0002c0003t0003g0037 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.457-13276G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42523200 | ||||||
| chr1:42523360
|
T | C | 46 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(43): Show | 46 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(43): Show |
intron_variant | MODIFIER | c.457-13116T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42523360 | ||||||
| chr1:42523394
|
A | G | 45 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(42): Show | 45 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(42): Show |
intron_variant | MODIFIER | c.457-13082A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42523394 | ||||||
| chr1:42523454
|
G | A | 2 | a0001c0021t0045g0049a0003c0022t0046g0050 | 2 | HG02559.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.457-13022G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42523454 | ||||||
| chr1:42523605
|
C | T | 1 | a0003c0014t0028g0067 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.457-12871C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42523605 | ||||||
| chr1:42523708
|
G | T | 127 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(124): Show | 127 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(124): Show |
intron_variant | MODIFIER | c.457-12768G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42523708 | ||||||
| chr1:42523752
|
C | G | 179 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(176): Show | 179 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(176): Show |
intron_variant | MODIFIER | c.457-12724C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42523752 | ||||||
| chr1:42523820
|
A | G | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.457-12656A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42523820 | ||||||
| chr1:42523895
|
T | A | 1 | a0002c0003t0003g0027 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.457-12581T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42523895 | ||||||
| chr1:42523951
|
A | G | 46 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(43): Show | 46 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(43): Show |
intron_variant | MODIFIER | c.457-12525A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42523951 | ||||||
| chr1:42524105
|
C | CT | 47 | a0002c0003t0003g0012a0002c0003t0003g0013a0002c0003t0003g0014others(44): Show | 47 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(44): Show |
intron_variant | MODIFIER | c.457-12360dupT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42524105 | |||||
| chr1:42524112
|
T | C | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.457-12364T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42524112 | ||||||
| chr1:42524174
|
A | G | 16 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0006t0004g0311others(13): Show | 16 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(13): Show |
intron_variant | MODIFIER | c.457-12302A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42524174 | ||||||
| chr1:42524365
|
C | T | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.457-12111C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42524365 | ||||||
| chr1:42524372
|
C | A | 127 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(124): Show | 127 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(124): Show |
intron_variant | MODIFIER | c.457-12104C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42524372 | ||||||
| chr1:42524553
|
G | A | 60 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(57): Show | 60 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(57): Show |
intron_variant | MODIFIER | c.457-11923G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42524553 | ||||||
| chr1:42524571
|
G | A | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.457-11905G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42524571 | ||||||
| chr1:42524588
|
A | G | 8 | a0001c0004t0022g0059a0001c0004t0022g0060a0001c0009t0017g0055others(5): Show | 8 | HG01891.hp2 HG02615.hp2 HG02970.hp2 others(5): Show |
intron_variant | MODIFIER | c.457-11888A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42524588 | ||||||
| chr1:42524705
|
A | G | 111 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(108): Show | 111 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(108): Show |
intron_variant | MODIFIER | c.457-11771A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42524705 | ||||||
| chr1:42524777
|
CT | C | 5 | a0001c0002t0002g0211a0001c0002t0002g0218a0001c0002t0002g0220others(2): Show | 5 | NA18947.hp2 NA18959.hp2 NA19009.hp1 others(2): Show |
intron_variant | MODIFIER | c.457-11696delT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42524777 | |||||
| chr1:42524829
|
G | A | 46 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(43): Show | 46 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(43): Show |
intron_variant | MODIFIER | c.457-11647G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42524829 | ||||||
| chr1:42525227
|
C | T | 177 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(174): Show | 177 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(174): Show |
intron_variant | MODIFIER | c.457-11249C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42525227 | ||||||
| chr1:42525290
|
T | A | 1 | a0003c0014t0029g0064 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.457-11186T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42525290 | ||||||
| chr1:42525328
|
T | A | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.457-11148T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42525328 | ||||||
| chr1:42525743
|
G | C | 2 | a0001c0002t0002g0221a0001c0002t0002g0222 | 2 | HG00597.hp1 NA19063.hp2 |
intron_variant | MODIFIER | c.457-10733G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42525743 | ||||||
| chr1:42525806
|
C | T | 313 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(310): Show | 314 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(311): Show |
intron_variant | MODIFIER | c.457-10670C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42525806 | ||||||
| chr1:42525871
|
C | T | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.457-10605C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42525871 | ||||||
| chr1:42525981
|
C | T | 9 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(6): Show | 9 | HG01167.hp2 HG02109.hp2 HG02886.hp1 others(6): Show |
intron_variant | MODIFIER | c.457-10495C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42525981 | ||||||
| chr1:42526030
|
T | C | 1 | a0001c0004t0004g0267 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.457-10446T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42526030 | ||||||
| chr1:42526050
|
C | T | 17 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0006t0004g0311others(14): Show | 17 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(14): Show |
intron_variant | MODIFIER | c.457-10426C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42526050 | ||||||
| chr1:42526074
|
T | C | 45 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(42): Show | 45 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(42): Show |
intron_variant | MODIFIER | c.457-10402T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42526074 | ||||||
| chr1:42526083
|
T | C | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.457-10393T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42526083 | ||||||
| chr1:42526108
|
A | G | 2 | a0001c0001t0001g0147a0001c0001t0001g0148 | 2 | HG00280.hp2 NA19054.hp1 |
intron_variant | MODIFIER | c.457-10368A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42526108 | ||||||
| chr1:42526541
|
T | G | 1 | a0001c0013t0031g0129 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.457-9935T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42526541 | ||||||
| chr1:42526642
|
T | C | 17 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0006t0004g0311others(14): Show | 17 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(14): Show |
intron_variant | MODIFIER | c.457-9834T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42526642 | ||||||
| chr1:42526907
|
T | C | 1 | a0001c0001t0001g0159 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.457-9569T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42526907 | ||||||
| chr1:42526913
|
C | T | 60 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(57): Show | 60 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(57): Show |
intron_variant | MODIFIER | c.457-9563C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42526913 | ||||||
| chr1:42526974
|
T | G | 1 | a0001c0004t0004g0276 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.457-9502T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42526974 | ||||||
| chr1:42527060
|
G | A | 177 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(174): Show | 177 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(174): Show |
intron_variant | MODIFIER | c.457-9416G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42527060 | ||||||
| chr1:42527227
|
A | T | 1 | a0002c0003t0003g0039 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.457-9249A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42527227 | ||||||
| chr1:42527250
|
CT | C | 4 | a0001c0004t0004g0269a0001c0004t0004g0270a0001c0004t0004g0271others(1): Show | 4 | HG00438.hp1 HG02074.hp2 NA19009.hp2 others(1): Show |
intron_variant | MODIFIER | c.457-9223delT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42527250 | |||||
| chr1:42527268
|
C | A | 9 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(6): Show | 9 | HG01167.hp2 HG02109.hp2 HG02886.hp1 others(6): Show |
intron_variant | MODIFIER | c.457-9208C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42527268 | ||||||
| chr1:42527303
|
A | C | 2 | a0002c0003t0003g0045a0002c0003t0003g0046 | 2 | HG01175.hp1 HG01515.hp2 |
intron_variant | MODIFIER | c.457-9173A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42527303 | ||||||
| chr1:42527335
|
T | C | 2 | a0002c0003t0003g0014a0002c0003t0034g0015 | 2 | HG00733.hp2 HG01516.hp1 |
intron_variant | MODIFIER | c.457-9141T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42527335 | ||||||
| chr1:42527356
|
A | T | 1 | a0006c0029t0039g0052 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.457-9120A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42527356 | ||||||
| chr1:42527412
|
C | T | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.457-9064C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42527412 | ||||||
| chr1:42527413
|
A | G | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.457-9063A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42527413 | ||||||
| chr1:42527516
|
T | C | 1 | a0001c0004t0004g0310 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.457-8960T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42527516 | ||||||
| chr1:42527634
|
A | G | 46 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(43): Show | 46 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(43): Show |
intron_variant | MODIFIER | c.457-8842A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42527634 | ||||||
| chr1:42527777
|
G | C | 14 | a0001c0006t0004g0311a0001c0006t0005g0320a0001c0006t0008g0314others(11): Show | 14 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(11): Show |
intron_variant | MODIFIER | c.457-8699G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42527777 | ||||||
| chr1:42527929
|
G | A | 7 | a0001c0006t0008g0314a0001c0007t0005g0313a0001c0007t0005g0315others(4): Show | 7 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(4): Show |
intron_variant | MODIFIER | c.457-8547G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42527929 | ||||||
| chr1:42527935
|
G | A | 127 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(124): Show | 127 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(124): Show |
intron_variant | MODIFIER | c.457-8541G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42527935 | ||||||
| chr1:42528283
|
A | G | 1 | a0001c0002t0033g0266 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.457-8193A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42528283 | ||||||
| chr1:42528348
|
C | T | 1 | a0006c0029t0039g0052 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.457-8128C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42528348 | ||||||
| chr1:42528446
|
A | G | 179 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(176): Show | 179 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(176): Show |
intron_variant | MODIFIER | c.457-8030A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42528446 | ||||||
| chr1:42528492
|
G | A | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.457-7984G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42528492 | ||||||
| chr1:42528505
|
G | C | 17 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0006t0004g0311others(14): Show | 17 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(14): Show |
intron_variant | MODIFIER | c.457-7971G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42528505 | ||||||
| chr1:42528649
|
T | C | 2 | a0001c0002t0002g0219a0001c0002t0002g0241 | 2 | HG00735.hp1 HG02735.hp1 |
intron_variant | MODIFIER | c.457-7827T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42528649 | ||||||
| chr1:42528668
|
C | T | 3 | a0002c0003t0003g0030a0002c0003t0003g0037a0002c0003t0014g0029 | 3 | NA18612.hp1 NA18962.hp2 NA18975.hp1 |
intron_variant | MODIFIER | c.457-7808C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42528668 | ||||||
| chr1:42528913
|
A | G | 5 | a0001c0006t0005g0320a0001c0006t0008g0318a0001c0006t0008g0321others(2): Show | 5 | HG02145.hp1 HG02717.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.457-7563A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42528913 | ||||||
| chr1:42528914
|
T | C | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.457-7562T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42528914 | ||||||
| chr1:42528950
|
A | T | 179 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(176): Show | 179 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(176): Show |
intron_variant | MODIFIER | c.457-7526A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42528950 | ||||||
| chr1:42529234
|
A | G | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.457-7242A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42529234 | ||||||
| chr1:42529317
|
C | T | 101 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(98): Show | 101 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(98): Show |
intron_variant | MODIFIER | c.457-7159C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42529317 | ||||||
| chr1:42529344
|
C | T | 101 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(98): Show | 101 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(98): Show |
intron_variant | MODIFIER | c.457-7132C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42529344 | ||||||
| chr1:42529363
|
T | C | 5 | a0001c0010t0004g0275a0001c0010t0005g0277a0001c0010t0005g0278others(2): Show | 5 | HG01074.hp2 HG02015.hp2 NA18940.hp2 others(2): Show |
intron_variant | MODIFIER | c.457-7113T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42529363 | ||||||
| chr1:42529407
|
G | C | 2 | a0002c0016t0020g0006a0002c0016t0020g0010 | 2 | HG03654.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.457-7069G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42529407 | ||||||
| chr1:42529472
|
AAAAT | A | 298 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(295): Show | 299 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(296): Show |
intron_variant | MODIFIER | c.457-6979_457-6976d others(6): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42529472 | |||||
| chr1:42529631
|
T | G | 113 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(110): Show | 113 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(110): Show |
intron_variant | MODIFIER | c.457-6845T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42529631 | ||||||
| chr1:42529692
|
A | G | 1 | a0001c0005t0036g0309 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.457-6784A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42529692 | ||||||
| chr1:42529764
|
T | C | 1 | a0006c0029t0039g0052 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.457-6712T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42529764 | ||||||
| chr1:42529839
|
T | A | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.457-6637T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42529839 | ||||||
| chr1:42529880
|
C | T | 129 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(126): Show | 129 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(126): Show |
intron_variant | MODIFIER | c.457-6596C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42529880 | ||||||
| chr1:42529924
|
T | G | 1 | a0001c0001t0001g0198 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.457-6552T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42529924 | ||||||
| chr1:42529952
|
G | T | 2 | a0001c0001t0001g0164a0001c0001t0001g0169 | 2 | HG00738.hp2 HG03239.hp1 |
intron_variant | MODIFIER | c.457-6524G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42529952 | ||||||
| chr1:42529968
|
A | G | 2 | a0001c0021t0045g0049a0003c0022t0046g0050 | 2 | HG02559.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.457-6508A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42529968 | ||||||
| chr1:42530087
|
T | G | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.457-6389T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42530087 | ||||||
| chr1:42530140
|
G | A | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.457-6336G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42530140 | ||||||
| chr1:42530184
|
T | C | 1 | a0001c0001t0001g0077 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.457-6292T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42530184 | ||||||
| chr1:42530218
|
C | A | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.457-6258C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42530218 | ||||||
| chr1:42530242
|
T | C | 1 | a0006c0029t0039g0052 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.457-6234T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42530242 | ||||||
| chr1:42530298
|
C | T | 1 | a0003c0014t0028g0067 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.457-6178C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42530298 | ||||||
| chr1:42530462
|
A | G | 2 | a0001c0005t0008g0202a0001c0005t0008g0203 | 2 | HG03209.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.457-6014A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42530462 | ||||||
| chr1:42530565
|
C | T | 1 | a0001c0001t0013g0195 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.457-5911C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42530565 | ||||||
| chr1:42530626
|
T | C | 1 | a0001c0002t0033g0266 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.457-5850T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42530626 | ||||||
| chr1:42530647
|
A | G | 1 | a0001c0002t0002g0287 | 1 | NA19075.hp2 | intron_variant | MODIFIER | c.457-5829A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42530647 | ||||||
| chr1:42530713
|
G | A | 2 | a0001c0021t0045g0049a0003c0022t0046g0050 | 2 | HG02559.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.457-5763G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42530713 | ||||||
| chr1:42530721
|
G | A | 6 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(3): Show | 6 | HG01891.hp2 HG02970.hp2 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.457-5755G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42530721 | ||||||
| chr1:42530798
|
G | C | 2 | a0001c0006t0008g0314a0001c0007t0005g0317 | 2 | HG02055.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.457-5678G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42530798 | ||||||
| chr1:42530814
|
G | A | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.457-5662G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42530814 | ||||||
| chr1:42531033
|
T | C | 169 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(166): Show | 169 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(166): Show |
intron_variant | MODIFIER | c.457-5443T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42531033 | ||||||
| chr1:42531133
|
TAGTG | T | 206 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(203): Show | 206 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(203): Show |
intron_variant | MODIFIER | c.457-5331_457-5328d others(6): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42531133 | |||||
| chr1:42531154
|
C | T | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.457-5322C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42531154 | ||||||
| chr1:42531218
|
T | C | 1 | a0001c0001t0001g0198 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.457-5258T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42531218 | ||||||
| chr1:42531280
|
C | G | 101 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(98): Show | 101 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(98): Show |
intron_variant | MODIFIER | c.457-5196C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42531280 | ||||||
| chr1:42531286
|
A | T | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.457-5190A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42531286 | ||||||
| chr1:42531406
|
G | A | 3 | a0001c0001t0011g0183a0001c0001t0011g0184a0001c0001t0013g0185 | 3 | HG03831.hp2 NA20752.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.457-5070G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42531406 | ||||||
| chr1:42531585
|
A | G | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.457-4891A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42531585 | ||||||
| chr1:42531630
|
C | T | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.457-4846C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42531630 | ||||||
| chr1:42531633
|
A | G | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.457-4843A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42531633 | ||||||
| chr1:42531650
|
T | A | 127 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(124): Show | 127 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(124): Show |
intron_variant | MODIFIER | c.457-4826T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42531650 | ||||||
| chr1:42531685
|
C | T | 2 | a0001c0005t0008g0202a0001c0005t0008g0203 | 2 | HG03209.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.457-4791C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42531685 | ||||||
| chr1:42531840
|
C | T | 1 | a0006c0029t0039g0052 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.457-4636C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42531840 | ||||||
| chr1:42531923
|
T | A | 3 | a0001c0002t0002g0208a0001c0002t0002g0224a0009c0023t0002g0223 | 3 | HG00099.hp2 HG00280.hp1 HG01981.hp2 |
intron_variant | MODIFIER | c.457-4553T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42531923 | ||||||
| chr1:42532038
|
T | C | 1 | a0003c0014t0029g0064 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.457-4438T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42532038 | ||||||
| chr1:42532056
|
C | A | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.457-4420C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42532056 | ||||||
| chr1:42532079
|
C | T | 10 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(7): Show | 10 | HG01167.hp2 HG02109.hp2 HG02572.hp2 others(7): Show |
intron_variant | MODIFIER | c.457-4397C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42532079 | ||||||
| chr1:42532133
|
A | C | 1 | a0001c0001t0006g0171 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.457-4343A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42532133 | ||||||
| chr1:42532261
|
C | G | 1 | a0001c0005t0036g0309 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.457-4215C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42532261 | ||||||
| chr1:42532317
|
T | G | 321 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(318): Show | 322 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(319): Show |
intron_variant | MODIFIER | c.457-4159T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42532317 | ||||||
| chr1:42532318
|
G | A | 1 | a0001c0001t0001g0088 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.457-4158G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42532318 | ||||||
| chr1:42532462
|
T | C | 6 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0079others(3): Show | 6 | HG02559.hp1 HG02809.hp1 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.457-4014T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42532462 | ||||||
| chr1:42532657
|
A | C | 1 | a0001c0001t0001g0089 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.457-3819A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42532657 | ||||||
| chr1:42532818
|
G | A | 2 | a0001c0001t0006g0189a0001c0001t0006g0190 | 2 | HG00099.hp1 HG01993.hp2 |
intron_variant | MODIFIER | c.457-3658G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42532818 | ||||||
| chr1:42532963
|
G | A | 13 | a0001c0006t0004g0311a0001c0006t0005g0320a0001c0006t0008g0314others(10): Show | 13 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(10): Show |
intron_variant | MODIFIER | c.457-3513G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42532963 | ||||||
| chr1:42533165
|
T | C | 2 | a0001c0021t0045g0049a0003c0022t0046g0050 | 2 | HG02559.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.457-3311T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42533165 | ||||||
| chr1:42533305
|
C | G | 4 | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0157others(1): Show | 4 | NA18944.hp1 NA18961.hp1 NA18986.hp1 others(1): Show |
intron_variant | MODIFIER | c.457-3171C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42533305 | ||||||
| chr1:42533306
|
C | T | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.457-3170C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42533306 | ||||||
| chr1:42533380
|
G | A | 6 | a0001c0006t0008g0314a0001c0007t0005g0313a0001c0007t0005g0315others(3): Show | 6 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(3): Show |
intron_variant | MODIFIER | c.457-3096G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42533380 | ||||||
| chr1:42533385
|
A | G | 1 | a0001c0002t0002g0211 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.457-3091A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42533385 | ||||||
| chr1:42533466
|
G | A | 5 | a0001c0010t0004g0275a0001c0010t0005g0277a0001c0010t0005g0278others(2): Show | 5 | HG01074.hp2 HG02015.hp2 NA18940.hp2 others(2): Show |
intron_variant | MODIFIER | c.457-3010G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42533466 | ||||||
| chr1:42533527
|
T | C | 6 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(3): Show | 6 | HG01891.hp2 HG02970.hp2 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.457-2949T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42533527 | ||||||
| chr1:42533555
|
A | G | 1 | a0001c0001t0001g0198 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.457-2921A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42533555 | ||||||
| chr1:42533651
|
C | T | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.457-2825C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42533651 | ||||||
| chr1:42533654
|
T | C | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.457-2822T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42533654 | ||||||
| chr1:42533790
|
A | C | 45 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(42): Show | 45 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(42): Show |
intron_variant | MODIFIER | c.457-2686A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42533790 | ||||||
| chr1:42533968
|
CA | C | 179 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(176): Show | 179 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(176): Show |
intron_variant | MODIFIER | c.457-2506delA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42533968 | |||||
| chr1:42534116
|
T | A | 179 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(176): Show | 179 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(176): Show |
intron_variant | MODIFIER | c.457-2360T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42534116 | ||||||
| chr1:42534162
|
T | C | 8 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(5): Show | 8 | HG01167.hp2 HG02109.hp2 HG02886.hp1 others(5): Show |
intron_variant | MODIFIER | c.457-2314T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42534162 | ||||||
| chr1:42534197
|
C | A | 2 | a0001c0009t0017g0056a0001c0009t0017g0057 | 2 | HG02970.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.457-2279C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42534197 | ||||||
| chr1:42534221
|
AG | A | 29 | a0001c0001t0001g0069a0001c0005t0005g0300a0001c0005t0005g0301others(26): Show | 29 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(26): Show |
intron_variant | MODIFIER | c.457-2246delG | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42534221 | |||||
| chr1:42534223
|
G | GC | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.457-2253_457-2252i others(3): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42534223 | ||||||
| chr1:42534228
|
G | A | 101 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(98): Show | 101 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(98): Show |
intron_variant | MODIFIER | c.457-2248G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42534228 | ||||||
| chr1:42534336
|
G | T | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.457-2140G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42534336 | ||||||
| chr1:42534578
|
T | G | 179 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(176): Show | 179 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(176): Show |
intron_variant | MODIFIER | c.457-1898T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42534578 | ||||||
| chr1:42534785
|
A | G | 1 | a0001c0004t0002g0298 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.457-1691A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42534785 | ||||||
| chr1:42534800
|
G | A | 6 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(3): Show | 6 | HG01891.hp2 HG02970.hp2 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.457-1676G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42534800 | ||||||
| chr1:42534837
|
C | CT | 6 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(3): Show | 6 | HG01891.hp2 HG02970.hp2 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.457-1632dupT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42534837 | |||||
| chr1:42534879
|
A | G | 1 | a0001c0001t0001g0122 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.457-1597A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42534879 | ||||||
| chr1:42534954
|
A | T | 1 | a0006c0029t0039g0052 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.457-1522A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42534954 | ||||||
| chr1:42534957
|
AG | A | 4 | a0001c0001t0006g0171a0001c0001t0006g0173a0001c0001t0011g0172others(1): Show | 4 | HG01109.hp1 HG01361.hp2 HG03704.hp1 others(1): Show |
intron_variant | MODIFIER | c.457-1518delG | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42534957 | ||||||
| chr1:42534959
|
A | G | 1 | a0001c0001t0001g0071 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.457-1517A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42534959 | ||||||
| chr1:42535012
|
C | A | 1 | a0001c0005t0008g0203 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.457-1464C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42535012 | ||||||
| chr1:42535034
|
T | C | 129 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(126): Show | 129 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(126): Show |
intron_variant | MODIFIER | c.457-1442T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42535034 | ||||||
| chr1:42535325
|
C | A | 113 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(110): Show | 113 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(110): Show |
intron_variant | MODIFIER | c.457-1151C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42535325 | ||||||
| chr1:42535482
|
A | AAT | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.457-990_457-989dup others(2): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535482 | |||||
| chr1:42535626
|
G | A | 129 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(126): Show | 129 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(126): Show |
intron_variant | MODIFIER | c.457-850G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42535626 | ||||||
| chr1:42535697
|
T | TATATATA others(136): Show |
1 | a0001c0001t0030g0146 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.457-757_457-756ins others(143): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535697 | |||||
| chr1:42535698
|
A | ATATATAT others(39): Show |
3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.457-767_457-766ins others(46): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535698 | |||||
| chr1:42535698
|
A | ATATATAT others(136): Show |
1 | a0001c0001t0001g0139 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.457-757_457-756ins others(143): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535698 | |||||
| chr1:42535698
|
A | ATATATAT others(125): Show |
1 | a0001c0001t0006g0100 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.457-757_457-756ins others(132): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535698 | |||||
| chr1:42535699
|
T | TATATATA others(163): Show |
1 | a0006c0029t0039g0052 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.457-767_457-766ins others(170): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535699 | |||||
| chr1:42535699
|
T | TATATATA others(133): Show |
1 | a0001c0001t0001g0108 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.457-757_457-756ins others(140): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535699 | |||||
| chr1:42535699
|
T | TATATATA others(136): Show |
1 | a0001c0001t0001g0150 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.457-757_457-756ins others(143): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535699 | |||||
| chr1:42535699
|
T | TATATATA others(147): Show |
1 | a0001c0001t0001g0089 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.457-757_457-756ins others(154): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535699 | |||||
| chr1:42535699
|
T | TATATATA others(134): Show |
1 | a0001c0001t0001g0161 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.457-757_457-756ins others(141): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535699 | |||||
| chr1:42535699
|
T | TATATATA others(134): Show |
2 | a0001c0001t0001g0123a0001c0001t0001g0124 | 2 | NA18941.hp1 NA18980.hp2 |
intron_variant | MODIFIER | c.457-757_457-756ins others(141): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535699 | |||||
| chr1:42535699
|
T | TATATATA others(123): Show |
1 | a0001c0019t0007g0099 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.457-757_457-756ins others(130): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535699 | |||||
| chr1:42535699
|
T | TATATATA others(140): Show |
1 | a0001c0001t0001g0109 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.457-757_457-756ins others(147): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535699 | |||||
| chr1:42535699
|
T | TATATATA others(138): Show |
1 | a0001c0001t0001g0103 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.457-757_457-756ins others(145): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535699 | |||||
| chr1:42535699
|
T | TATATATA others(156): Show |
1 | a0001c0017t0006g0063 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.457-757_457-756ins others(163): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535699 | |||||
| chr1:42535699
|
T | TATATATA others(125): Show |
2 | a0001c0001t0024g0145a0001c0001t0027g0094 | 2 | HG02602.hp1 HG03704.hp2 |
intron_variant | MODIFIER | c.457-757_457-756ins others(132): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535699 | |||||
| chr1:42535699
|
T | TATATATA others(136): Show |
1 | a0001c0001t0018g0096 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.457-757_457-756ins others(143): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535699 | |||||
| chr1:42535699
|
T | TATATATA others(158): Show |
1 | a0001c0013t0031g0129 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.457-757_457-756ins others(165): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535699 | |||||
| chr1:42535699
|
T | TATATATA others(158): Show |
1 | a0001c0001t0001g0125 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.457-757_457-756ins others(165): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535699 | |||||
| chr1:42535699
|
T | TATATATA others(147): Show |
3 | a0001c0001t0001g0110a0001c0001t0001g0144a0001c0001t0007g0054 | 3 | HG00438.hp2 NA18978.hp1 NA19088.hp2 |
intron_variant | MODIFIER | c.457-757_457-756ins others(154): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535699 | |||||
| chr1:42535699
|
T | TATATATA others(147): Show |
1 | a0005c0018t0026g0168 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.457-757_457-756ins others(154): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535699 | |||||
| chr1:42535699
|
T | TATATATA others(136): Show |
48 | a0001c0001t0001g0001a0001c0001t0001g0069a0001c0001t0001g0070others(45): Show | 49 | HG00280.hp2 HG00544.hp2 HG00558.hp2 others(46): Show |
intron_variant | MODIFIER | c.457-757_457-756ins others(143): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535699 | |||||
| chr1:42535699
|
T | TATATATA others(125): Show |
13 | a0001c0001t0001g0068a0001c0001t0001g0071a0001c0001t0001g0088others(10): Show | 13 | HG00741.hp1 HG01069.hp1 HG01071.hp1 others(10): Show |
intron_variant | MODIFIER | c.457-757_457-756ins others(132): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535699 | |||||
| chr1:42535699
|
T | TATATATA others(147): Show |
1 | a0001c0001t0025g0130 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.457-757_457-756ins others(154): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535699 | |||||
| chr1:42535699
|
T | TATATATA others(136): Show |
3 | a0001c0001t0001g0118a0001c0001t0001g0119a0010c0025t0001g0120 | 3 | HG00408.hp2 HG02129.hp1 HG02155.hp1 |
intron_variant | MODIFIER | c.457-757_457-756ins others(143): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535699 | |||||
| chr1:42535699
|
T | TATATATA others(125): Show |
1 | a0001c0001t0001g0121 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.457-757_457-756ins others(132): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535699 | |||||
| chr1:42535699
|
T | TATATATA others(103): Show |
1 | a0001c0001t0001g0084 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.457-757_457-756ins others(110): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535699 | |||||
| chr1:42535699
|
T | TATATATA others(136): Show |
1 | a0001c0001t0019g0167 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.457-757_457-756ins others(143): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535699 | |||||
| chr1:42535699
|
T | TATATATA others(125): Show |
1 | a0003c0014t0029g0064 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.457-757_457-756ins others(132): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535699 | |||||
| chr1:42535699
|
T | TATATATA others(59): Show |
20 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(17): Show | 20 | HG00099.hp1 HG01071.hp2 HG01081.hp1 others(17): Show |
intron_variant | MODIFIER | c.457-757_457-756ins others(66): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535699 | |||||
| chr1:42535699
|
T | TATATATA others(81): Show |
6 | a0001c0001t0006g0181a0001c0001t0006g0182a0001c0001t0006g0186others(3): Show | 6 | HG00741.hp2 HG01099.hp1 HG01975.hp1 others(3): Show |
intron_variant | MODIFIER | c.457-757_457-756ins others(88): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535699 | |||||
| chr1:42535699
|
T | TATATATA others(297): Show |
1 | a0001c0001t0001g0075 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.457-757_457-756ins others(304): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535699 | |||||
| chr1:42535699
|
T | TATATATA others(299): Show |
2 | a0001c0001t0001g0072a0001c0001t0001g0073 | 2 | HG02055.hp2 HG02965.hp2 |
intron_variant | MODIFIER | c.457-757_457-756ins others(306): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535699 | |||||
| chr1:42535699
|
T | TATATATA others(235): Show |
5 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0079others(2): Show | 5 | HG02559.hp1 HG02976.hp2 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.457-757_457-756ins others(242): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535699 | |||||
| chr1:42535699
|
T | TATATATA others(224): Show |
1 | a0001c0001t0001g0080 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.457-757_457-756ins others(231): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535699 | |||||
| chr1:42535699
|
T | TATATATA others(123): Show |
1 | a0001c0001t0001g0198 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.457-757_457-756ins others(130): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535699 | |||||
| chr1:42535699
|
T | TATATATA others(119): Show |
1 | a0001c0001t0011g0184 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.457-769_457-768ins others(126): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535699 | |||||
| chr1:42535701
|
T | TATATATA others(37): Show |
15 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0006t0004g0311others(12): Show | 15 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(12): Show |
intron_variant | MODIFIER | c.457-768_457-767ins others(44): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535701 | |||||
| chr1:42535701
|
T | TATATATA others(37): Show |
1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.457-757_457-756ins others(44): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535701 | |||||
| chr1:42535701
|
T | TATATATA others(37): Show |
111 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(108): Show | 111 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(108): Show |
intron_variant | MODIFIER | c.457-757_457-756ins others(44): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535701 | |||||
| chr1:42535701
|
T | TATATATA others(59): Show |
1 | a0003c0022t0046g0050 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.457-757_457-756ins others(66): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535701 | |||||
| chr1:42535701
|
T | TATATATA others(125): Show |
1 | a0001c0021t0045g0049 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.457-757_457-756ins others(132): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535701 | |||||
| chr1:42535701
|
T | TATATATA others(121): Show |
1 | a0003c0012t0049g0061 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.457-757_457-756ins others(128): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535701 | |||||
| chr1:42535701
|
T | TATATATA others(123): Show |
5 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(2): Show | 5 | HG01891.hp2 HG02970.hp2 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.457-757_457-756ins others(130): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535701 | |||||
| chr1:42535701
|
T | TATATATA others(39): Show |
1 | a0001c0002t0002g0218 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.457-757_457-756ins others(46): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535701 | |||||
| chr1:42535709
|
T | TTATATAT others(39): Show |
45 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(42): Show | 45 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(42): Show |
intron_variant | MODIFIER | c.457-757_457-756ins others(46): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535709 | |||||
| chr1:42535710
|
T | TATATATA others(136): Show |
3 | a0001c0001t0001g0151a0001c0001t0001g0152a0001c0001t0001g0153 | 3 | NA18972.hp2 NA19081.hp1 NA19087.hp1 |
intron_variant | MODIFIER | c.457-757_457-756ins others(143): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535710 | |||||
| chr1:42535710
|
T | TATATATA others(125): Show |
6 | a0001c0001t0001g0065a0001c0001t0001g0066a0001c0001t0001g0086others(3): Show | 6 | HG00639.hp2 HG02257.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.457-757_457-756ins others(132): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535710 | |||||
| chr1:42535725
|
T | A | 129 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(126): Show | 129 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(126): Show |
intron_variant | MODIFIER | c.457-751T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42535725 | ||||||
| chr1:42535734
|
A | T | 12 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(9): Show | 12 | HG01167.hp2 HG02109.hp2 HG02559.hp2 others(9): Show |
intron_variant | MODIFIER | c.457-742A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42535734 | ||||||
| chr1:42535741
|
TAAAC | T | 4 | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0157others(1): Show | 4 | NA18944.hp1 NA18961.hp1 NA18986.hp1 others(1): Show |
intron_variant | MODIFIER | c.457-732_457-729del others(4): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | 42535741 | |||||
| chr1:42535903
|
A | G | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.457-573A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42535903 | ||||||
| chr1:42535944
|
T | C | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.457-532T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42535944 | ||||||
| chr1:42536018
|
AT | A | 6 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(3): Show | 6 | HG01891.hp2 HG02970.hp2 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.457-457delT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42536018 | ||||||
| chr1:42536053
|
G | A | 185 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(182): Show | 185 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(182): Show |
intron_variant | MODIFIER | c.457-423G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42536053 | ||||||
| chr1:42536084
|
C | T | 27 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(24): Show | 27 | HG00099.hp1 HG00741.hp2 HG01071.hp2 others(24): Show |
intron_variant | MODIFIER | c.457-392C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42536084 | ||||||
| chr1:42536088
|
C | G | 60 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(57): Show | 60 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(57): Show |
intron_variant | MODIFIER | c.457-388C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42536088 | ||||||
| chr1:42536171
|
T | G | 16 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0006t0004g0311others(13): Show | 16 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(13): Show |
intron_variant | MODIFIER | c.457-305T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42536171 | ||||||
| chr1:42536220
|
T | C | 5 | a0001c0006t0005g0320a0001c0006t0008g0318a0001c0006t0008g0321others(2): Show | 5 | HG02145.hp1 HG02717.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.457-256T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42536220 | ||||||
| chr1:42536348
|
A | T | 1 | a0001c0001t0001g0125 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.457-128A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42536348 | ||||||
| chr1:42536354
|
T | A | 1 | a0001c0001t0006g0181 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.457-122T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42536354 | ||||||
| chr1:42536431
|
A | T | 2 | a0001c0004t0003g0237a0001c0004t0003g0255 | 2 | HG01891.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.457-45A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | chr1 | 42536431 | ||||||
| chr1:42536676
|
A | G | 45 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(42): Show | 45 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(42): Show |
intron_variant | MODIFIER | c.582+75A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 7/20 | chr1 | 42536676 | ||||||
| chr1:42536687
|
A | G | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.582+86A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 7/20 | chr1 | 42536687 | ||||||
| chr1:42536822
|
G | T | 2 | a0003c0012t0048g0062a0003c0012t0049g0061 | 2 | HG03471.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.582+221G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 7/20 | chr1 | 42536822 | ||||||
| chr1:42536960
|
G | A | 1 | a0001c0001t0001g0132 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.582+359G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 7/20 | chr1 | 42536960 | ||||||
| chr1:42537073
|
G | A | 179 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(176): Show | 179 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(176): Show |
intron_variant | MODIFIER | c.582+472G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 7/20 | chr1 | 42537073 | ||||||
| chr1:42537299
|
A | G | 1 | a0001c0001t0001g0139 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.582+698A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 7/20 | chr1 | 42537299 | ||||||
| chr1:42537434
|
C | T | 3 | a0001c0001t0001g0091a0001c0001t0007g0093a0001c0001t0011g0092 | 3 | HG01106.hp2 HG01433.hp1 HG03927.hp1 |
intron_variant | MODIFIER | c.582+833C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 7/20 | chr1 | 42537434 | ||||||
| chr1:42537498
|
G | T | 1 | a0004c0011t0009g0005 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.582+897G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 7/20 | chr1 | 42537498 | ||||||
| chr1:42537557
|
G | A | 179 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(176): Show | 179 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(176): Show |
intron_variant | MODIFIER | c.582+956G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 7/20 | chr1 | 42537557 | ||||||
| chr1:42537744
|
C | T | 5 | a0001c0006t0005g0320a0001c0006t0008g0318a0001c0006t0008g0321others(2): Show | 5 | HG02145.hp1 HG02717.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.582+1143C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 7/20 | chr1 | 42537744 | ||||||
| chr1:42537768
|
G | A | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.582+1167G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 7/20 | chr1 | 42537768 | ||||||
| chr1:42537794
|
A | T | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.582+1193A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 7/20 | chr1 | 42537794 | ||||||
| chr1:42537863
|
G | A | 1 | a0002c0003t0014g0009 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.582+1262G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 7/20 | chr1 | 42537863 | ||||||
| chr1:42537923
|
C | T | 1 | a0005c0018t0026g0168 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.583-1250C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 7/20 | chr1 | 42537923 | ||||||
| chr1:42537957
|
G | A | 3 | a0001c0006t0008g0314a0001c0007t0005g0317a0001c0007t0005g0323 | 3 | HG01884.hp1 HG02055.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.583-1216G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 7/20 | chr1 | 42537957 | ||||||
| chr1:42537969
|
C | CA | 180 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(177): Show | 180 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(177): Show |
intron_variant | MODIFIER | c.583-1188dupA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr1 | 42537969 | |||||
| chr1:42537986
|
T | A | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.583-1187T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 7/20 | chr1 | 42537986 | ||||||
| chr1:42538038
|
T | A | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.583-1135T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 7/20 | chr1 | 42538038 | ||||||
| chr1:42538069
|
C | G | 1 | a0001c0001t0001g0144 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.583-1104C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 7/20 | chr1 | 42538069 | ||||||
| chr1:42538111
|
A | G | 179 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(176): Show | 179 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(176): Show |
intron_variant | MODIFIER | c.583-1062A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 7/20 | chr1 | 42538111 | ||||||
| chr1:42538149
|
C | CA | 29 | a0001c0001t0001g0071a0001c0001t0001g0072a0001c0001t0001g0079others(26): Show | 29 | HG00323.hp1 HG00408.hp2 HG00423.hp1 others(26): Show |
intron_variant | MODIFIER | c.583-993dupA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr1 | 42538149 | |||||
| chr1:42538149
|
C | CAA | 23 | a0001c0001t0001g0121a0002c0003t0003g0011a0002c0003t0003g0013others(20): Show | 23 | HG00323.hp2 HG00733.hp2 HG01074.hp1 others(20): Show |
intron_variant | MODIFIER | c.583-994_583-993dup others(2): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr1 | 42538149 | |||||
| chr1:42538149
|
C | CAAA | 16 | a0002c0003t0003g0012a0002c0003t0003g0016a0002c0003t0003g0022others(13): Show | 16 | HG00609.hp2 HG01106.hp1 HG01175.hp1 others(13): Show |
intron_variant | MODIFIER | c.583-995_583-993dup others(3): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr1 | 42538149 | |||||
| chr1:42538149
|
CA | C | 31 | a0001c0001t0001g0066a0001c0001t0001g0082a0001c0001t0001g0084others(28): Show | 31 | HG00280.hp2 HG00597.hp2 HG00639.hp2 others(28): Show |
intron_variant | MODIFIER | c.583-993delA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr1 | 42538149 | |||||
| chr1:42538149
|
CAAAA | C | 15 | a0001c0005t0005g0300a0001c0005t0008g0202a0001c0005t0008g0203others(12): Show | 15 | HG01243.hp2 HG01884.hp1 HG02145.hp1 others(12): Show |
intron_variant | MODIFIER | c.583-996_583-993del others(4): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr1 | 42538149 | |||||
| chr1:42538149
|
CAAAAA | C | 12 | a0001c0005t0005g0301a0001c0005t0005g0302a0001c0005t0005g0303others(9): Show | 12 | HG01167.hp2 HG02109.hp2 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.583-997_583-993del others(5): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr1 | 42538149 | |||||
| chr1:42538149
|
CAAAAAAA others(1): Show |
C | 6 | a0001c0002t0002g0208a0001c0002t0002g0225a0001c0004t0002g0298others(3): Show | 6 | HG00438.hp1 HG01243.hp1 HG01981.hp2 others(3): Show |
intron_variant | MODIFIER | c.583-1000_583-993de others(9): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr1 | 42538149 | |||||
| chr1:42538149
|
CAAAAAAA others(2): Show |
C | 95 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(92): Show | 95 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(92): Show |
intron_variant | MODIFIER | c.583-1001_583-993de others(10): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr1 | 42538149 | |||||
| chr1:42538149
|
CAAAAAAA others(5): Show |
C | 27 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(24): Show | 27 | HG00099.hp1 HG00741.hp2 HG01071.hp2 others(24): Show |
intron_variant | MODIFIER | c.583-1004_583-993de others(13): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr1 | 42538149 | |||||
| chr1:42538149
|
CAAAAAAA others(6): Show |
C | 1 | a0001c0001t0001g0166 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.583-1005_583-993de others(14): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr1 | 42538149 | |||||
| chr1:42538162
|
A | C | 27 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(24): Show | 27 | HG00099.hp1 HG00741.hp2 HG01071.hp2 others(24): Show |
intron_variant | MODIFIER | c.583-1011A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 7/20 | chr1 | 42538162 | ||||||
| chr1:42538336
|
G | GA | 9 | a0001c0001t0001g0160a0001c0001t0001g0162a0001c0001t0007g0149others(6): Show | 9 | HG00558.hp2 HG01891.hp2 HG02970.hp2 others(6): Show |
intron_variant | MODIFIER | c.583-827dupA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr1 | 42538336 | |||||
| chr1:42538384
|
C | T | 1 | a0001c0005t0036g0309 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.583-789C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 7/20 | chr1 | 42538384 | ||||||
| chr1:42538502
|
G | A | 2 | a0001c0002t0002g0221a0001c0002t0002g0222 | 2 | HG00597.hp1 NA19063.hp2 |
intron_variant | MODIFIER | c.583-671G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 7/20 | chr1 | 42538502 | ||||||
| chr1:42538972
|
TATTTAAT others(2): Show |
T | 3 | a0001c0001t0027g0094a0001c0004t0022g0059a0001c0004t0022g0060 | 3 | HG02615.hp2 HG03579.hp2 HG03704.hp2 |
intron_variant | MODIFIER | c.583-186_583-178del others(9): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr1 | 42538972 | |||||
| chr1:42539333
|
A | G | 1 | a0001c0001t0006g0181 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.720+23A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42539333 | ||||||
| chr1:42539516
|
C | T | 6 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(3): Show | 6 | HG01891.hp2 HG02970.hp2 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.720+206C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42539516 | ||||||
| chr1:42539695
|
A | T | 2 | a0001c0001t0001g0135a0001c0001t0019g0167 | 2 | HG02486.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.720+385A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42539695 | ||||||
| chr1:42539765
|
C | T | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.720+455C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42539765 | ||||||
| chr1:42539918
|
TA | T | 176 | a0001c0001t0006g0188a0001c0002t0002g0204a0001c0002t0002g0205others(173): Show | 176 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(173): Show |
intron_variant | MODIFIER | c.720+623delA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr1 | 42539918 | |||||
| chr1:42540338
|
C | A | 2 | a0002c0016t0020g0006a0002c0016t0020g0010 | 2 | HG03654.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.720+1028C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42540338 | ||||||
| chr1:42540383
|
G | C | 15 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0006t0004g0311others(12): Show | 15 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(12): Show |
intron_variant | MODIFIER | c.720+1073G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42540383 | ||||||
| chr1:42540411
|
A | G | 1 | a0006c0029t0039g0052 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.720+1101A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42540411 | ||||||
| chr1:42540441
|
C | G | 1 | a0001c0001t0006g0186 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.720+1131C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42540441 | ||||||
| chr1:42540482
|
T | A | 1 | a0001c0001t0001g0198 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.720+1172T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42540482 | ||||||
| chr1:42540591
|
C | G | 1 | a0001c0001t0001g0085 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.720+1281C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42540591 | ||||||
| chr1:42540591
|
C | T | 12 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(9): Show | 12 | HG01167.hp2 HG02109.hp2 HG02559.hp2 others(9): Show |
intron_variant | MODIFIER | c.720+1281C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42540591 | ||||||
| chr1:42540613
|
G | T | 2 | a0001c0001t0001g0119a0010c0025t0001g0120 | 2 | HG00408.hp2 HG02129.hp1 |
intron_variant | MODIFIER | c.720+1303G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42540613 | ||||||
| chr1:42540649
|
C | T | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.720+1339C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42540649 | ||||||
| chr1:42540650
|
T | TAC | 99 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(96): Show | 99 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(96): Show |
intron_variant | MODIFIER | c.720+1358_720+1359d others(4): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr1 | 42540650 | |||||
| chr1:42540664
|
C | CACACACA others(1): Show |
12 | a0001c0004t0004g0199a0001c0004t0004g0200a0001c0004t0015g0201others(9): Show | 12 | HG01069.hp2 HG01167.hp2 HG02109.hp2 others(9): Show |
intron_variant | MODIFIER | c.720+1359_720+1360i others(10): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr1 | 42540664 | |||||
| chr1:42540670
|
T | C | 1 | a0002c0003t0003g0035 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.720+1360T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42540670 | ||||||
| chr1:42540672
|
C | T | 1 | a0002c0003t0003g0035 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.720+1362C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42540672 | ||||||
| chr1:42540676
|
T | C | 13 | a0001c0004t0004g0199a0001c0004t0004g0200a0001c0004t0015g0201others(10): Show | 13 | HG00323.hp2 HG01069.hp2 HG01167.hp2 others(10): Show |
intron_variant | MODIFIER | c.720+1366T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42540676 | ||||||
| chr1:42540676
|
T | TAC | 5 | a0001c0009t0017g0056a0001c0009t0017g0057a0001c0009t0047g0058others(2): Show | 5 | HG01891.hp2 HG02970.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.720+1382_720+1383d others(4): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr1 | 42540676 | |||||
| chr1:42540676
|
T | TACAC | 100 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(97): Show | 100 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(97): Show |
intron_variant | MODIFIER | c.720+1380_720+1383d others(6): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr1 | 42540676 | |||||
| chr1:42540676
|
T | TACACAC | 17 | a0001c0005t0008g0203a0001c0005t0036g0309a0001c0006t0004g0311others(14): Show | 17 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(14): Show |
intron_variant | MODIFIER | c.720+1378_720+1383d others(8): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr1 | 42540676 | |||||
| chr1:42540676
|
TAC | T | 49 | a0001c0001t0001g0097a0002c0003t0003g0011a0002c0003t0003g0012others(46): Show | 49 | HG00609.hp2 HG00733.hp2 HG00738.hp1 others(46): Show |
intron_variant | MODIFIER | c.720+1382_720+1383d others(4): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr1 | 42540676 | |||||
| chr1:42540678
|
C | T | 1 | a0002c0003t0003g0035 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.720+1368C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42540678 | ||||||
| chr1:42540694
|
G | A | 1 | a0001c0002t0002g0240 | 1 | NA18980.hp1 | intron_variant | MODIFIER | c.720+1384G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42540694 | ||||||
| chr1:42540808
|
C | G | 13 | a0001c0006t0004g0311a0001c0006t0005g0320a0001c0006t0008g0314others(10): Show | 13 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(10): Show |
intron_variant | MODIFIER | c.720+1498C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42540808 | ||||||
| chr1:42540839
|
C | T | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.720+1529C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42540839 | ||||||
| chr1:42540849
|
T | C | 1 | a0003c0022t0046g0050 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.720+1539T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42540849 | ||||||
| chr1:42540859
|
G | A | 1 | a0001c0004t0004g0276 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.720+1549G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42540859 | ||||||
| chr1:42541282
|
A | T | 185 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(182): Show | 185 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(182): Show |
intron_variant | MODIFIER | c.720+1972A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42541282 | ||||||
| chr1:42541321
|
C | A | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.720+2011C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42541321 | ||||||
| chr1:42541337
|
A | G | 1 | a0003c0022t0046g0050 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.720+2027A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42541337 | ||||||
| chr1:42541494
|
C | G | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.720+2184C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42541494 | ||||||
| chr1:42541541
|
G | C | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.720+2231G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42541541 | ||||||
| chr1:42541583
|
G | A | 1 | a0009c0023t0002g0223 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.720+2273G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42541583 | ||||||
| chr1:42541639
|
T | C | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.720+2329T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42541639 | ||||||
| chr1:42541656
|
C | A | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.720+2346C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42541656 | ||||||
| chr1:42541722
|
A | G | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.720+2412A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42541722 | ||||||
| chr1:42541738
|
C | T | 100 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(97): Show | 101 | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(98): Show |
intron_variant | MODIFIER | c.720+2428C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42541738 | ||||||
| chr1:42541836
|
C | G | 1 | a0003c0022t0046g0050 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.720+2526C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42541836 | ||||||
| chr1:42541925
|
A | G | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.720+2615A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42541925 | ||||||
| chr1:42542180
|
T | C | 1 | a0003c0014t0029g0064 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.720+2870T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42542180 | ||||||
| chr1:42542186
|
G | A | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.720+2876G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42542186 | ||||||
| chr1:42542259
|
T | A | 1 | a0001c0002t0002g0226 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.720+2949T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42542259 | ||||||
| chr1:42542347
|
G | A | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.720+3037G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42542347 | ||||||
| chr1:42542460
|
G | A | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.721-2950G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42542460 | ||||||
| chr1:42542505
|
A | C | 1 | a0001c0001t0006g0180 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.721-2905A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42542505 | ||||||
| chr1:42542529
|
TTAAATTT others(316): Show |
T | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.721-2867_721-2545d others(2): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr1 | 42542529 | |||||
| chr1:42542539
|
C | CTTTTTT | 17 | a0001c0005t0005g0301a0001c0005t0005g0302a0001c0005t0005g0303others(14): Show | 17 | HG01167.hp2 HG01884.hp1 HG02109.hp2 others(14): Show |
intron_variant | MODIFIER | c.721-2854_721-2849d others(8): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr1 | 42542539 | |||||
| chr1:42542539
|
C | CTTTTTTT | 78 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(75): Show | 78 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(75): Show |
intron_variant | MODIFIER | c.721-2855_721-2849d others(9): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr1 | 42542539 | |||||
| chr1:42542539
|
C | CTTTTTTT others(1): Show |
28 | a0001c0002t0002g0211a0001c0002t0002g0215a0001c0002t0002g0218others(25): Show | 28 | HG00438.hp1 HG00621.hp2 HG00673.hp1 others(25): Show |
intron_variant | MODIFIER | c.721-2856_721-2849d others(10): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr1 | 42542539 | |||||
| chr1:42542539
|
CT | C | 85 | a0001c0001t0001g0001a0001c0001t0001g0069a0001c0001t0001g0070others(82): Show | 86 | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(83): Show |
intron_variant | MODIFIER | c.721-2849delT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr1 | 42542539 | |||||
| chr1:42542544
|
T | C | 2 | a0001c0001t0001g0139a0001c0001t0001g0161 | 2 | HG00597.hp2 HG02056.hp1 |
intron_variant | MODIFIER | c.721-2866T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42542544 | ||||||
| chr1:42542546
|
T | C | 6 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(3): Show | 6 | HG01891.hp2 HG02970.hp2 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.721-2864T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42542546 | ||||||
| chr1:42542623
|
T | A | 16 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0006t0004g0311others(13): Show | 16 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(13): Show |
intron_variant | MODIFIER | c.721-2787T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42542623 | ||||||
| chr1:42542673
|
C | A | 1 | a0003c0012t0048g0062 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.721-2737C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42542673 | ||||||
| chr1:42542804
|
C | T | 2 | a0001c0021t0045g0049a0003c0022t0046g0050 | 2 | HG02559.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.721-2606C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42542804 | ||||||
| chr1:42542933
|
T | C | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.721-2477T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42542933 | ||||||
| chr1:42543010
|
T | A | 1 | a0006c0029t0039g0052 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.721-2400T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42543010 | ||||||
| chr1:42543051
|
G | A | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.721-2359G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42543051 | ||||||
| chr1:42543059
|
A | G | 1 | a0002c0003t0003g0013 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.721-2351A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42543059 | ||||||
| chr1:42543098
|
T | C | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.721-2312T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42543098 | ||||||
| chr1:42543175
|
A | G | 2 | a0002c0003t0003g0048a0007c0028t0003g0047 | 2 | HG02818.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.721-2235A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42543175 | ||||||
| chr1:42543264
|
C | T | 9 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(6): Show | 9 | HG01167.hp2 HG02109.hp2 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.721-2146C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42543264 | ||||||
| chr1:42543275
|
C | CT | 6 | a0001c0010t0005g0278a0002c0003t0003g0018a0004c0011t0009g0003others(3): Show | 6 | HG02015.hp2 HG02622.hp1 HG02896.hp1 others(3): Show |
intron_variant | MODIFIER | c.721-2122dupT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr1 | 42543275 | |||||
| chr1:42543275
|
C | CTT | 125 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(122): Show | 125 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(122): Show |
intron_variant | MODIFIER | c.721-2123_721-2122d others(4): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr1 | 42543275 | |||||
| chr1:42543377
|
T | C | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.721-2033T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42543377 | ||||||
| chr1:42543495
|
A | G | 2 | a0001c0001t0006g0171a0001c0001t0006g0173 | 2 | HG01109.hp1 HG01361.hp2 |
intron_variant | MODIFIER | c.721-1915A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42543495 | ||||||
| chr1:42543508
|
A | G | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.721-1902A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42543508 | ||||||
| chr1:42543648
|
T | C | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.721-1762T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42543648 | ||||||
| chr1:42543681
|
T | C | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.721-1729T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42543681 | ||||||
| chr1:42543716
|
A | G | 1 | a0001c0001t0006g0179 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.721-1694A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42543716 | ||||||
| chr1:42543761
|
C | T | 2 | a0001c0005t0008g0202a0001c0005t0008g0203 | 2 | HG03209.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.721-1649C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42543761 | ||||||
| chr1:42543790
|
T | A | 179 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(176): Show | 179 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(176): Show |
intron_variant | MODIFIER | c.721-1620T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42543790 | ||||||
| chr1:42543801
|
A | G | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.721-1609A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42543801 | ||||||
| chr1:42543855
|
G | A | 1 | a0001c0002t0002g0211 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.721-1555G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42543855 | ||||||
| chr1:42543921
|
T | A | 1 | a0003c0015t0041g0308 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.721-1489T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42543921 | ||||||
| chr1:42543945
|
C | T | 113 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(110): Show | 113 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(110): Show |
intron_variant | MODIFIER | c.721-1465C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42543945 | ||||||
| chr1:42544190
|
G | A | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.721-1220G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42544190 | ||||||
| chr1:42544192
|
C | T | 59 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(56): Show | 59 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(56): Show |
intron_variant | MODIFIER | c.721-1218C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42544192 | ||||||
| chr1:42544326
|
C | G | 1 | a0001c0002t0002g0250 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.721-1084C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42544326 | ||||||
| chr1:42544363
|
G | A | 1 | a0001c0004t0004g0276 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.721-1047G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42544363 | ||||||
| chr1:42544478
|
A | G | 1 | a0001c0005t0005g0307 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.721-932A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42544478 | ||||||
| chr1:42544481
|
A | G | 7 | a0001c0001t0001g0065a0001c0001t0001g0066a0001c0001t0001g0086others(4): Show | 7 | HG00639.hp2 HG02257.hp2 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.721-929A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42544481 | ||||||
| chr1:42544574
|
G | A | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.721-836G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42544574 | ||||||
| chr1:42544802
|
C | T | 86 | a0001c0001t0001g0001a0001c0001t0001g0069a0001c0001t0001g0070others(83): Show | 87 | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(84): Show |
intron_variant | MODIFIER | c.721-608C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42544802 | ||||||
| chr1:42544809
|
G | A | 1 | a0006c0029t0039g0052 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.721-601G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42544809 | ||||||
| chr1:42544820
|
T | C | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.721-590T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42544820 | ||||||
| chr1:42544933
|
C | T | 7 | a0001c0006t0008g0314a0001c0007t0005g0313a0001c0007t0005g0315others(4): Show | 7 | HG01243.hp2 HG01884.hp1 HG01891.hp2 others(4): Show |
intron_variant | MODIFIER | c.721-477C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42544933 | ||||||
| chr1:42545137
|
C | G | 1 | a0001c0009t0017g0055 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.721-273C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42545137 | ||||||
| chr1:42545148
|
T | A | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.721-262T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42545148 | ||||||
| chr1:42545161
|
TTA | T | 11 | a0001c0002t0002g0225a0001c0002t0002g0245a0001c0002t0002g0281others(8): Show | 11 | HG00558.hp1 HG01891.hp1 HG02129.hp2 others(8): Show |
intron_variant | MODIFIER | c.721-248_721-247del others(2): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42545161 | ||||||
| chr1:42545161
|
TTAA | T | 85 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(82): Show | 85 | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(82): Show |
intron_variant | MODIFIER | c.721-248_721-246del others(3): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42545161 | ||||||
| chr1:42545161
|
TTAAA | T | 5 | a0001c0002t0002g0216a0001c0002t0002g0217a0001c0004t0004g0258others(2): Show | 5 | HG00099.hp2 HG03491.hp1 NA18946.hp2 others(2): Show |
intron_variant | MODIFIER | c.721-248_721-245del others(4): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42545161 | ||||||
| chr1:42545162
|
T | TA | 30 | a0001c0001t0001g0072a0001c0001t0001g0076a0001c0001t0001g0077others(27): Show | 30 | HG00738.hp2 HG01109.hp2 HG01167.hp2 others(27): Show |
intron_variant | MODIFIER | c.721-222dupA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr1 | 42545162 | |||||
| chr1:42545162
|
T | TAA | 16 | a0001c0001t0001g0071a0001c0001t0010g0104a0001c0005t0005g0300others(13): Show | 16 | HG00741.hp1 HG02055.hp1 HG02083.hp2 others(13): Show |
intron_variant | MODIFIER | c.721-223_721-222dup others(2): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr1 | 42545162 | |||||
| chr1:42545162
|
T | TAAA | 6 | a0001c0001t0001g0137a0001c0005t0005g0302a0001c0009t0047g0058others(3): Show | 6 | HG01891.hp2 HG02896.hp1 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.721-224_721-222dup others(3): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr1 | 42545162 | |||||
| chr1:42545162
|
TA | T | 12 | a0001c0001t0001g0068a0001c0001t0001g0084a0001c0001t0001g0097others(9): Show | 12 | HG01884.hp2 HG02615.hp1 HG02622.hp2 others(9): Show |
intron_variant | MODIFIER | c.721-222delA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr1 | 42545162 | |||||
| chr1:42545162
|
TAAAAAAA others(4): Show |
T | 46 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(43): Show | 46 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(43): Show |
intron_variant | MODIFIER | c.721-232_721-222del others(11): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr1 | 42545162 | |||||
| chr1:42545162
|
TAAAAAAA others(6): Show |
T | 7 | a0001c0001t0001g0065a0001c0001t0001g0066a0001c0001t0001g0086others(4): Show | 7 | HG00639.hp2 HG02257.hp2 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.721-234_721-222del others(13): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr1 | 42545162 | |||||
| chr1:42545186
|
A | AAAAAAAA others(4): Show |
1 | a0001c0001t0006g0171 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.721-222_721-221ins others(11): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr1 | 42545186 | |||||
| chr1:42545186
|
A | AAAAAAAA others(3): Show |
1 | a0001c0001t0006g0179 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.721-222_721-221ins others(10): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr1 | 42545186 | |||||
| chr1:42545186
|
A | AAAAAAAT | 9 | a0001c0001t0006g0173a0001c0001t0006g0176a0001c0001t0006g0186others(6): Show | 9 | HG01099.hp1 HG01109.hp1 HG01515.hp1 others(6): Show |
intron_variant | MODIFIER | c.721-222_721-221ins others(7): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr1 | 42545186 | |||||
| chr1:42545186
|
A | AAAAAAT | 7 | a0001c0001t0001g0175a0001c0001t0006g0177a0001c0001t0006g0181others(4): Show | 7 | HG00741.hp2 HG01071.hp2 HG01081.hp1 others(4): Show |
intron_variant | MODIFIER | c.721-222_721-221ins others(6): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr1 | 42545186 | |||||
| chr1:42545217
|
TA | T | 100 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(97): Show | 100 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(97): Show |
intron_variant | MODIFIER | c.721-183delA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr1 | 42545217 | |||||
| chr1:42545344
|
CT | C | 15 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0006t0004g0311others(12): Show | 15 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(12): Show |
intron_variant | MODIFIER | c.721-59delT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr1 | 42545344 | |||||
| chr1:42545359
|
A | G | 113 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(110): Show | 113 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(110): Show |
intron_variant | MODIFIER | c.721-51A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | chr1 | 42545359 | ||||||
| chr1:42545664
|
C | T | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.890+85C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42545664 | ||||||
| chr1:42545718
|
A | G | 185 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(182): Show | 185 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(182): Show |
intron_variant | MODIFIER | c.890+139A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42545718 | ||||||
| chr1:42545725
|
TCG | T | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.890+148_890+149del others(2): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42545725 | |||||
| chr1:42545726
|
C | G | 1 | a0001c0001t0001g0198 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.890+147C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42545726 | ||||||
| chr1:42545772
|
C | A | 2 | a0001c0005t0008g0202a0001c0005t0008g0203 | 2 | HG03209.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.890+193C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42545772 | ||||||
| chr1:42545787
|
A | C | 1 | a0001c0001t0001g0166 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.890+208A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42545787 | ||||||
| chr1:42545813
|
G | T | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.890+234G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42545813 | ||||||
| chr1:42545867
|
G | A | 2 | a0001c0001t0010g0196a0011c0026t0042g0299 | 2 | HG02280.hp1 HG02698.hp1 |
intron_variant | MODIFIER | c.890+288G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42545867 | ||||||
| chr1:42545948
|
T | TTAATAA | 159 | a0001c0001t0001g0175a0001c0001t0001g0198a0001c0001t0006g0171others(156): Show | 159 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(156): Show |
intron_variant | MODIFIER | c.890+386_890+391dup others(6): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42545948 | |||||
| chr1:42545948
|
T | TTAATAAT others(2): Show |
3 | a0001c0021t0045g0049a0003c0022t0046g0050a0011c0026t0042g0299 | 3 | HG02280.hp1 HG02559.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.890+383_890+391dup others(9): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42545948 | |||||
| chr1:42545948
|
TTAA | T | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.890+389_890+391del others(3): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42545948 | |||||
| chr1:42545997
|
G | C | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.890+418G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42545997 | ||||||
| chr1:42546106
|
A | G | 2 | a0001c0005t0008g0202a0001c0005t0008g0203 | 2 | HG03209.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.890+527A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546106 | ||||||
| chr1:42546155
|
G | A | 1 | a0001c0004t0004g0258 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.890+576G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546155 | ||||||
| chr1:42546161
|
G | A | 143 | a0001c0001t0001g0001a0001c0001t0001g0068a0001c0001t0001g0069others(140): Show | 144 | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(141): Show |
intron_variant | MODIFIER | c.890+582G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546161 | ||||||
| chr1:42546176
|
A | G | 6 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(3): Show | 6 | HG01891.hp2 HG02970.hp2 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.890+597A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546176 | ||||||
| chr1:42546268
|
C | T | 9 | a0001c0004t0003g0291a0001c0004t0009g0292a0001c0004t0040g0293others(6): Show | 9 | HG01167.hp1 HG01169.hp2 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.890+689C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546268 | ||||||
| chr1:42546273
|
T | G | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.890+694T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546273 | ||||||
| chr1:42546314
|
G | C | 2 | a0001c0005t0008g0202a0001c0005t0008g0203 | 2 | HG03209.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.890+735G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546314 | ||||||
| chr1:42546393
|
A | ATATATAT others(26): Show |
1 | a0006c0029t0039g0052 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.890+814_890+815ins others(33): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546393 | ||||||
| chr1:42546393
|
A | ATATATAT others(208): Show |
1 | a0002c0003t0003g0032 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.890+814_890+815ins others(215): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546393 | ||||||
| chr1:42546393
|
A | ATATATAT others(106): Show |
2 | a0002c0003t0003g0012a0002c0003t0016g0021 | 2 | HG02015.hp1 NA19004.hp1 |
intron_variant | MODIFIER | c.890+814_890+815ins others(113): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546393 | ||||||
| chr1:42546393
|
A | ATATATAT others(78): Show |
2 | a0002c0003t0003g0053a0002c0003t0004g0008 | 2 | HG00738.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.890+814_890+815ins others(85): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546393 | ||||||
| chr1:42546393
|
A | ATATATAT others(104): Show |
23 | a0002c0003t0003g0011a0002c0003t0003g0017a0002c0003t0003g0018others(20): Show | 23 | HG00609.hp2 HG01074.hp1 HG01106.hp1 others(20): Show |
intron_variant | MODIFIER | c.890+814_890+815ins others(111): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546393 | ||||||
| chr1:42546393
|
A | ATATATAT others(132): Show |
1 | a0002c0003t0003g0035 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.890+814_890+815ins others(139): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546393 | ||||||
| chr1:42546393
|
A | ATATATAT others(130): Show |
4 | a0002c0003t0003g0044a0002c0003t0003g0045a0002c0003t0003g0046others(1): Show | 4 | HG01175.hp1 HG01515.hp2 HG02004.hp2 others(1): Show |
intron_variant | MODIFIER | c.890+814_890+815ins others(137): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546393 | ||||||
| chr1:42546393
|
A | ATATATAT others(156): Show |
2 | a0002c0003t0003g0048a0007c0028t0003g0047 | 2 | HG02818.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.890+814_890+815ins others(163): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546393 | ||||||
| chr1:42546393
|
A | ATATATAT others(182): Show |
1 | a0002c0003t0003g0036 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.890+814_890+815ins others(189): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546393 | ||||||
| chr1:42546393
|
A | ATATATAT others(234): Show |
2 | a0002c0003t0005g0031a0002c0003t0016g0020 | 2 | NA18986.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.890+814_890+815ins others(241): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546393 | ||||||
| chr1:42546394
|
A | T | 7 | a0002c0003t0003g0013a0002c0003t0003g0014a0002c0003t0003g0016others(4): Show | 7 | HG00733.hp2 HG02071.hp2 HG03098.hp2 others(4): Show |
intron_variant | MODIFIER | c.890+815A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546394 | ||||||
| chr1:42546394
|
AAAAAAAT others(28): Show |
A | 1 | a0003c0015t0038g0305 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.890+817_890+851del others(35): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42546394 | |||||
| chr1:42546395
|
A | ATATATAT others(58): Show |
3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.890+816_890+817ins others(65): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546395 | ||||||
| chr1:42546395
|
A | ATATATAT others(104): Show |
1 | a0002c0003t0003g0013 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.890+816_890+817ins others(111): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546395 | ||||||
| chr1:42546395
|
A | ATATATAT others(78): Show |
1 | a0002c0016t0020g0006 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.890+816_890+817ins others(85): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546395 | ||||||
| chr1:42546395
|
A | ATATATAT others(76): Show |
1 | a0002c0016t0020g0010 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.890+816_890+817ins others(83): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546395 | ||||||
| chr1:42546395
|
A | ATATATAT others(102): Show |
2 | a0002c0003t0003g0014a0002c0003t0014g0009 | 2 | HG00733.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.890+816_890+817ins others(109): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546395 | ||||||
| chr1:42546395
|
A | ATATATAT others(138): Show |
1 | a0002c0003t0003g0033 | 1 | NA18950.hp2 | intron_variant | MODIFIER | c.890+816_890+817ins others(145): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546395 | ||||||
| chr1:42546395
|
A | ATATATAT others(206): Show |
1 | a0002c0003t0003g0016 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.890+816_890+817ins others(213): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546395 | ||||||
| chr1:42546395
|
A | T | 39 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0017others(36): Show | 39 | HG00323.hp2 HG00609.hp2 HG00738.hp1 others(36): Show |
intron_variant | MODIFIER | c.890+816A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546395 | ||||||
| chr1:42546396
|
AAAAATAT others(16): Show |
A | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.890+819_890+841del others(23): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42546396 | |||||
| chr1:42546397
|
A | T | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.890+818A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546397 | ||||||
| chr1:42546397
|
AAAATATA others(11): Show |
A | 2 | a0001c0004t0003g0291a0001c0004t0009g0292 | 2 | HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.890+820_890+837del others(18): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42546397 | |||||
| chr1:42546398
|
AAATATAT others(6): Show |
A | 1 | a0001c0004t0004g0297 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.890+821_890+833del others(13): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42546398 | |||||
| chr1:42546398
|
AAATATAT others(12): Show |
A | 11 | a0001c0001t0006g0143a0001c0002t0002g0213a0001c0004t0004g0200others(8): Show | 11 | HG00438.hp1 HG01069.hp2 HG02698.hp2 others(8): Show |
intron_variant | MODIFIER | c.890+821_890+839del others(19): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42546398 | |||||
| chr1:42546399
|
A | T | 51 | a0001c0001t0001g0079a0001c0001t0001g0080a0002c0003t0003g0011others(48): Show | 51 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(48): Show |
intron_variant | MODIFIER | c.890+820A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546399 | ||||||
| chr1:42546399
|
AATATATA others(9): Show |
A | 2 | a0001c0001t0001g0122a0001c0001t0001g0198 | 2 | HG02809.hp2 NA18947.hp1 |
intron_variant | MODIFIER | c.890+848_890+863del others(16): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42546399 | |||||
| chr1:42546399
|
AATATATA others(11): Show |
A | 30 | a0001c0001t0001g0082a0001c0001t0001g0085a0001c0001t0001g0091others(27): Show | 30 | HG00280.hp2 HG00735.hp1 HG01106.hp2 others(27): Show |
intron_variant | MODIFIER | c.890+846_890+863del others(18): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42546399 | |||||
| chr1:42546399
|
AATATATA others(13): Show |
A | 17 | a0001c0001t0001g0065a0001c0001t0001g0066a0001c0001t0001g0086others(14): Show | 17 | HG00544.hp2 HG00639.hp2 HG01169.hp1 others(14): Show |
intron_variant | MODIFIER | c.890+844_890+863del others(20): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42546399 | |||||
| chr1:42546399
|
AATATATA others(15): Show |
A | 2 | a0001c0005t0036g0309a0003c0015t0041g0308 | 2 | HG02572.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.890+842_890+863del others(22): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42546399 | |||||
| chr1:42546399
|
AATATATA others(17): Show |
A | 5 | a0001c0005t0005g0300a0001c0005t0005g0302a0001c0005t0005g0303others(2): Show | 5 | HG02109.hp2 HG03041.hp1 HG03579.hp1 others(2): Show |
intron_variant | MODIFIER | c.890+840_890+863del others(24): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42546399 | |||||
| chr1:42546399
|
AATATATA others(21): Show |
A | 1 | a0001c0001t0001g0073 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.890+836_890+863del others(28): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42546399 | |||||
| chr1:42546400
|
ATATATAT others(10): Show |
A | 14 | a0001c0001t0001g0137a0001c0001t0001g0151a0001c0001t0001g0161others(11): Show | 14 | HG00544.hp1 HG01175.hp2 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.890+822_890+838del others(17): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546400 | ||||||
| chr1:42546400
|
ATATATAT others(12): Show |
A | 168 | a0001c0001t0001g0001a0001c0001t0001g0068a0001c0001t0001g0069others(165): Show | 169 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(166): Show |
intron_variant | MODIFIER | c.890+822_890+840del others(19): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546400 | ||||||
| chr1:42546400
|
ATATATAT others(14): Show |
A | 6 | a0001c0004t0004g0267a0001c0006t0008g0314a0001c0007t0005g0313others(3): Show | 6 | HG01243.hp2 HG01884.hp1 HG02257.hp1 others(3): Show |
intron_variant | MODIFIER | c.890+822_890+842del others(21): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546400 | ||||||
| chr1:42546400
|
ATATATAT others(16): Show |
A | 4 | a0001c0005t0005g0301a0001c0005t0005g0304a0001c0005t0008g0202others(1): Show | 4 | HG02886.hp1 HG03098.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.890+822_890+844del others(23): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546400 | ||||||
| chr1:42546401
|
T | A | 1 | a0001c0001t0001g0072 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.890+822T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546401 | ||||||
| chr1:42546406
|
A | G | 1 | a0006c0029t0039g0052 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.890+827A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546406 | ||||||
| chr1:42546408
|
A | G | 48 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(45): Show | 48 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(45): Show |
intron_variant | MODIFIER | c.890+829A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546408 | ||||||
| chr1:42546416
|
A | G | 4 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005others(1): Show | 4 | HG02896.hp1 HG03195.hp1 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.890+837A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546416 | ||||||
| chr1:42546417
|
T | A | 2 | a0001c0001t0001g0122a0001c0001t0001g0198 | 2 | HG02809.hp2 NA18947.hp1 |
intron_variant | MODIFIER | c.890+838T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546417 | ||||||
| chr1:42546418
|
A | G | 45 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(42): Show | 45 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(42): Show |
intron_variant | MODIFIER | c.890+839A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546418 | ||||||
| chr1:42546419
|
T | A | 34 | a0001c0001t0001g0082a0001c0001t0001g0085a0001c0001t0001g0091others(31): Show | 34 | HG01106.hp2 HG01433.hp1 HG01515.hp1 others(31): Show |
intron_variant | MODIFIER | c.890+840T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546419 | ||||||
| chr1:42546421
|
T | A | 111 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(108): Show | 112 | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(109): Show |
intron_variant | MODIFIER | c.890+842T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546421 | ||||||
| chr1:42546423
|
T | A | 44 | a0001c0001t0001g0068a0001c0001t0001g0089a0001c0001t0001g0136others(41): Show | 44 | HG00099.hp1 HG00609.hp1 HG00673.hp2 others(41): Show |
intron_variant | MODIFIER | c.890+844T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546423 | ||||||
| chr1:42546425
|
T | A | 16 | a0001c0001t0006g0182a0001c0001t0011g0172a0001c0001t0011g0183others(13): Show | 16 | HG02109.hp2 HG02280.hp1 HG02572.hp2 others(13): Show |
intron_variant | MODIFIER | c.890+846T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546425 | ||||||
| chr1:42546426
|
A | G | 1 | a0006c0029t0039g0052 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.890+847A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546426 | ||||||
| chr1:42546427
|
T | A | 8 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(5): Show | 8 | HG02109.hp2 HG02280.hp1 HG02886.hp1 others(5): Show |
intron_variant | MODIFIER | c.890+848T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546427 | ||||||
| chr1:42546428
|
A | G | 48 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(45): Show | 48 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(45): Show |
intron_variant | MODIFIER | c.890+849A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546428 | ||||||
| chr1:42546429
|
T | A | 7 | a0001c0005t0005g0300a0001c0005t0005g0302a0001c0005t0005g0303others(4): Show | 7 | HG02109.hp2 HG02280.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.890+850T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546429 | ||||||
| chr1:42546458
|
GAT | G | 83 | a0001c0001t0001g0001a0001c0001t0001g0069a0001c0001t0001g0070others(80): Show | 84 | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(81): Show |
intron_variant | MODIFIER | c.890+890_890+891del others(2): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42546458 | |||||
| chr1:42546470
|
T | C | 1 | a0001c0001t0010g0102 | 1 | NA19067.hp2 | intron_variant | MODIFIER | c.890+891T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546470 | ||||||
| chr1:42546472
|
C | T | 1 | a0001c0001t0010g0102 | 1 | NA19067.hp2 | intron_variant | MODIFIER | c.890+893C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546472 | ||||||
| chr1:42546490
|
G | T | 1 | a0001c0002t0002g0250 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.890+911G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546490 | ||||||
| chr1:42546513
|
A | G | 185 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(182): Show | 185 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(182): Show |
intron_variant | MODIFIER | c.890+934A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546513 | ||||||
| chr1:42546662
|
A | G | 1 | a0006c0029t0039g0052 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.890+1083A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546662 | ||||||
| chr1:42546770
|
C | T | 12 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(9): Show | 12 | HG01167.hp2 HG02109.hp2 HG02559.hp2 others(9): Show |
intron_variant | MODIFIER | c.890+1191C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546770 | ||||||
| chr1:42546924
|
A | G | 45 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(42): Show | 45 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(42): Show |
intron_variant | MODIFIER | c.890+1345A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546924 | ||||||
| chr1:42546972
|
T | A | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.890+1393T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42546972 | ||||||
| chr1:42547153
|
T | A | 179 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(176): Show | 179 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(176): Show |
intron_variant | MODIFIER | c.890+1574T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42547153 | ||||||
| chr1:42547384
|
T | A | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.890+1805T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42547384 | ||||||
| chr1:42547477
|
C | T | 2 | a0001c0005t0008g0202a0001c0005t0008g0203 | 2 | HG03209.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.890+1898C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42547477 | ||||||
| chr1:42547620
|
G | A | 101 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(98): Show | 101 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(98): Show |
intron_variant | MODIFIER | c.890+2041G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42547620 | ||||||
| chr1:42547698
|
T | C | 2 | a0001c0002t0002g0251a0001c0002t0002g0252 | 2 | HG00408.hp1 HG00423.hp2 |
intron_variant | MODIFIER | c.890+2119T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42547698 | ||||||
| chr1:42547832
|
C | T | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.890+2253C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42547832 | ||||||
| chr1:42547833
|
G | A | 4 | a0001c0001t0001g0089a0001c0001t0001g0108a0001c0001t0001g0112others(1): Show | 4 | HG00621.hp1 HG00673.hp2 NA19055.hp1 others(1): Show |
intron_variant | MODIFIER | c.890+2254G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42547833 | ||||||
| chr1:42547839
|
G | A | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.890+2260G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42547839 | ||||||
| chr1:42548080
|
A | G | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.890+2501A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42548080 | ||||||
| chr1:42548112
|
G | T | 1 | a0006c0029t0039g0052 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.890+2533G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42548112 | ||||||
| chr1:42548125
|
A | G | 1 | a0001c0005t0036g0309 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.890+2546A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42548125 | ||||||
| chr1:42548130
|
G | A | 2 | a0001c0001t0011g0194a0001c0001t0013g0195 | 2 | HG01515.hp1 HG02148.hp1 |
intron_variant | MODIFIER | c.890+2551G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42548130 | ||||||
| chr1:42548252
|
G | C | 2 | a0002c0016t0020g0006a0002c0016t0020g0010 | 2 | HG03654.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.890+2673G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42548252 | ||||||
| chr1:42548299
|
A | T | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.890+2720A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42548299 | ||||||
| chr1:42548303
|
A | G | 1 | a0001c0002t0002g0240 | 1 | NA18980.hp1 | intron_variant | MODIFIER | c.890+2724A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42548303 | ||||||
| chr1:42548497
|
G | C | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.890+2918G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42548497 | ||||||
| chr1:42548656
|
G | T | 1 | a0002c0016t0020g0006 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.890+3077G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42548656 | ||||||
| chr1:42548806
|
G | A | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.890+3227G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42548806 | ||||||
| chr1:42548873
|
A | T | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.890+3294A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42548873 | ||||||
| chr1:42548978
|
G | A | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.890+3399G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42548978 | ||||||
| chr1:42549002
|
T | G | 313 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(310): Show | 314 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(311): Show |
intron_variant | MODIFIER | c.890+3423T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42549002 | ||||||
| chr1:42549046
|
C | T | 3 | a0001c0001t0001g0001a0001c0001t0001g0125a0001c0001t0001g0126 | 4 | HG01099.hp2 HG03491.hp2 HG03492.hp2 others(1): Show |
intron_variant | MODIFIER | c.890+3467C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42549046 | ||||||
| chr1:42549218
|
T | C | 1 | a0001c0005t0036g0309 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.890+3639T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42549218 | ||||||
| chr1:42549246
|
A | G | 3 | a0001c0002t0044g0257a0001c0004t0004g0258a0001c0004t0004g0261 | 3 | HG02258.hp1 HG03491.hp1 HG03834.hp2 |
intron_variant | MODIFIER | c.890+3667A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42549246 | ||||||
| chr1:42549310
|
A | G | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.890+3731A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42549310 | ||||||
| chr1:42549476
|
CA | C | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.890+3899delA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42549476 | |||||
| chr1:42549552
|
C | T | 313 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(310): Show | 314 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(311): Show |
intron_variant | MODIFIER | c.890+3973C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42549552 | ||||||
| chr1:42549573
|
ATATG | A | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.890+3998_890+4001d others(6): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42549573 | |||||
| chr1:42549685
|
C | G | 42 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(39): Show | 42 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(39): Show |
intron_variant | MODIFIER | c.890+4106C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42549685 | ||||||
| chr1:42549748
|
C | T | 5 | a0001c0010t0004g0275a0001c0010t0005g0277a0001c0010t0005g0278others(2): Show | 5 | HG01074.hp2 HG02015.hp2 NA18940.hp2 others(2): Show |
intron_variant | MODIFIER | c.890+4169C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42549748 | ||||||
| chr1:42549751
|
T | C | 1 | a0005c0018t0026g0168 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.890+4172T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42549751 | ||||||
| chr1:42549796
|
A | G | 2 | a0001c0021t0045g0049a0003c0022t0046g0050 | 2 | HG02559.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.890+4217A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42549796 | ||||||
| chr1:42550104
|
A | AG | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.890+4525_890+4526i others(3): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42550104 | ||||||
| chr1:42550105
|
T | C | 1 | a0001c0001t0001g0135 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.890+4526T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42550105 | ||||||
| chr1:42550131
|
C | T | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.890+4552C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42550131 | ||||||
| chr1:42550446
|
C | G | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.890+4867C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42550446 | ||||||
| chr1:42550448
|
A | G | 2 | a0001c0001t0001g0001a0001c0001t0001g0126 | 3 | HG03491.hp2 HG03492.hp2 HG04199.hp1 |
intron_variant | MODIFIER | c.890+4869A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42550448 | ||||||
| chr1:42550455
|
C | T | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.890+4876C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42550455 | ||||||
| chr1:42550561
|
C | A | 45 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(42): Show | 45 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(42): Show |
intron_variant | MODIFIER | c.890+4982C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42550561 | ||||||
| chr1:42550761
|
C | A | 1 | a0001c0001t0001g0158 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.890+5182C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42550761 | ||||||
| chr1:42550938
|
G | A | 5 | a0001c0006t0005g0320a0001c0006t0008g0318a0001c0006t0008g0321others(2): Show | 5 | HG02145.hp1 HG02717.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.891-5218G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42550938 | ||||||
| chr1:42550939
|
C | A | 100 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(97): Show | 101 | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(98): Show |
intron_variant | MODIFIER | c.891-5217C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42550939 | ||||||
| chr1:42551243
|
A | ACTGTG | 45 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(42): Show | 45 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(42): Show |
intron_variant | MODIFIER | c.891-4910_891-4906d others(7): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42551243 | |||||
| chr1:42551283
|
G | A | 179 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(176): Show | 179 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(176): Show |
intron_variant | MODIFIER | c.891-4873G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42551283 | ||||||
| chr1:42551506
|
G | A | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.891-4650G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42551506 | ||||||
| chr1:42551732
|
G | A | 45 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(42): Show | 45 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(42): Show |
intron_variant | MODIFIER | c.891-4424G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42551732 | ||||||
| chr1:42551742
|
G | GGT | 132 | a0001c0001t0001g0198a0001c0001t0006g0100a0001c0001t0007g0054others(129): Show | 132 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(129): Show |
intron_variant | MODIFIER | c.891-4382_891-4381d others(4): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42551742 | |||||
| chr1:42551742
|
G | GGTGT | 29 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(26): Show | 29 | HG00099.hp1 HG00741.hp2 HG01071.hp2 others(26): Show |
intron_variant | MODIFIER | c.891-4384_891-4381d others(6): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42551742 | |||||
| chr1:42551742
|
G | GGTGTGT | 6 | a0001c0001t0006g0177a0001c0001t0006g0180a0001c0001t0006g0186others(3): Show | 6 | HG01099.hp1 HG01975.hp1 HG02300.hp2 others(3): Show |
intron_variant | MODIFIER | c.891-4386_891-4381d others(8): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42551742 | |||||
| chr1:42551742
|
G | GGTGTGTG others(1): Show |
8 | a0001c0001t0006g0176a0001c0001t0006g0178a0001c0001t0006g0179others(5): Show | 8 | HG00733.hp1 HG01261.hp2 HG01934.hp1 others(5): Show |
intron_variant | MODIFIER | c.891-4388_891-4381d others(10): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42551742 | |||||
| chr1:42551742
|
G | GGTGTGTG others(3): Show |
22 | a0001c0001t0006g0188a0001c0005t0005g0300a0001c0005t0005g0301others(19): Show | 22 | HG01167.hp2 HG01516.hp2 HG01884.hp1 others(19): Show |
intron_variant | MODIFIER | c.891-4390_891-4381d others(12): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42551742 | |||||
| chr1:42551742
|
G | GGTGTGTG others(5): Show |
3 | a0001c0006t0008g0322a0001c0007t0005g0315a0001c0007t0005g0316 | 3 | HG01243.hp2 HG02970.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.891-4392_891-4381d others(14): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42551742 | |||||
| chr1:42551742
|
G | GGTGTGTG others(7): Show |
3 | a0001c0006t0008g0314a0001c0007t0005g0317a0001c0021t0045g0049 | 3 | HG02055.hp1 HG02723.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.891-4394_891-4381d others(16): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42551742 | |||||
| chr1:42551742
|
GGT | G | 6 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(3): Show | 6 | HG01891.hp2 HG02970.hp2 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.891-4382_891-4381d others(4): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42551742 | |||||
| chr1:42551742
|
GGTGTGTG others(5): Show |
G | 1 | a0001c0001t0001g0139 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.891-4392_891-4381d others(14): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42551742 | |||||
| chr1:42551816
|
G | A | 1 | a0001c0001t0001g0065 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.891-4340G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42551816 | ||||||
| chr1:42552244
|
G | T | 2 | a0001c0004t0003g0237a0001c0004t0003g0255 | 2 | HG01891.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.891-3912G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42552244 | ||||||
| chr1:42552245
|
C | T | 2 | a0001c0004t0003g0237a0001c0004t0003g0255 | 2 | HG01891.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.891-3911C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42552245 | ||||||
| chr1:42552298
|
G | C | 2 | a0001c0001t0001g0069a0001c0001t0001g0070 | 2 | HG00735.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.891-3858G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42552298 | ||||||
| chr1:42552317
|
T | C | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.891-3839T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42552317 | ||||||
| chr1:42552330
|
G | T | 2 | a0001c0005t0005g0304a0003c0015t0038g0305 | 2 | HG01167.hp2 HG02886.hp1 |
intron_variant | MODIFIER | c.891-3826G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42552330 | ||||||
| chr1:42552568
|
A | AT | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.891-3582dupT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42552568 | |||||
| chr1:42552593
|
T | C | 40 | a0001c0002t0002g0281a0001c0002t0044g0257a0001c0004t0003g0291others(37): Show | 40 | HG00438.hp1 HG00673.hp1 HG01069.hp2 others(37): Show |
intron_variant | MODIFIER | c.891-3563T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42552593 | ||||||
| chr1:42552607
|
T | A | 2 | a0001c0021t0045g0049a0003c0022t0046g0050 | 2 | HG02559.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.891-3549T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42552607 | ||||||
| chr1:42552608
|
T | A | 140 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(137): Show | 140 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(137): Show |
intron_variant | MODIFIER | c.891-3548T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42552608 | ||||||
| chr1:42552608
|
TA | T | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.891-3540delA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42552608 | |||||
| chr1:42552683
|
C | A | 100 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(97): Show | 101 | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(98): Show |
intron_variant | MODIFIER | c.891-3473C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42552683 | ||||||
| chr1:42552728
|
T | C | 5 | a0001c0004t0004g0269a0001c0004t0004g0270a0001c0004t0004g0271others(2): Show | 5 | HG00438.hp1 HG02074.hp2 HG02155.hp2 others(2): Show |
intron_variant | MODIFIER | c.891-3428T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42552728 | ||||||
| chr1:42552730
|
A | C | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.891-3426A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42552730 | ||||||
| chr1:42552748
|
C | T | 1 | a0001c0005t0008g0202 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.891-3408C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42552748 | ||||||
| chr1:42553114
|
G | A | 2 | a0001c0002t0002g0217a0001c0002t0002g0229 | 2 | NA18940.hp1 NA18962.hp1 |
intron_variant | MODIFIER | c.891-3042G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42553114 | ||||||
| chr1:42553188
|
T | A | 1 | a0001c0006t0005g0320 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.891-2968T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42553188 | ||||||
| chr1:42553201
|
T | G | 213 | a0001c0001t0001g0175a0001c0001t0001g0198a0001c0001t0006g0171others(210): Show | 213 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(210): Show |
intron_variant | MODIFIER | c.891-2955T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42553201 | ||||||
| chr1:42553335
|
C | T | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.891-2821C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42553335 | ||||||
| chr1:42553384
|
T | TGTTTTAT others(11): Show |
56 | a0001c0001t0001g0001a0001c0001t0001g0069a0001c0001t0001g0070others(53): Show | 57 | HG00323.hp1 HG00408.hp2 HG00423.hp1 others(54): Show |
intron_variant | MODIFIER | c.891-2771_891-2754d others(20): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42553384 | |||||
| chr1:42553405
|
A | G | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.891-2751A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42553405 | ||||||
| chr1:42553440
|
A | T | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.891-2716A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42553440 | ||||||
| chr1:42553464
|
C | T | 129 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(126): Show | 129 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(126): Show |
intron_variant | MODIFIER | c.891-2692C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42553464 | ||||||
| chr1:42553490
|
TA | T | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.891-2656delA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42553490 | |||||
| chr1:42553500
|
A | G | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.891-2656A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42553500 | ||||||
| chr1:42553652
|
T | TAC | 80 | a0001c0001t0001g0001a0001c0001t0001g0071a0001c0001t0001g0082others(77): Show | 81 | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(78): Show |
intron_variant | MODIFIER | c.891-2465_891-2464d others(4): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42553652 | |||||
| chr1:42553652
|
T | TACAC | 58 | a0001c0001t0001g0069a0001c0001t0001g0070a0001c0001t0001g0083others(55): Show | 58 | HG00408.hp1 HG00423.hp2 HG00597.hp1 others(55): Show |
intron_variant | MODIFIER | c.891-2467_891-2464d others(6): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42553652 | |||||
| chr1:42553652
|
T | TACACAC | 59 | a0001c0001t0001g0125a0001c0001t0001g0141a0001c0001t0001g0175others(56): Show | 59 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(56): Show |
intron_variant | MODIFIER | c.891-2469_891-2464d others(8): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42553652 | |||||
| chr1:42553652
|
T | TACACACA others(1): Show |
27 | a0001c0001t0006g0187a0001c0001t0006g0193a0001c0002t0002g0211others(24): Show | 27 | HG00438.hp1 HG01074.hp2 HG01934.hp1 others(24): Show |
intron_variant | MODIFIER | c.891-2471_891-2464d others(10): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42553652 | |||||
| chr1:42553652
|
T | TACACACA others(3): Show |
6 | a0001c0002t0002g0281a0001c0004t0004g0271a0001c0004t0004g0285others(3): Show | 6 | HG02145.hp1 HG02559.hp2 NA18940.hp2 others(3): Show |
intron_variant | MODIFIER | c.891-2473_891-2464d others(12): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42553652 | |||||
| chr1:42553652
|
T | TACACACA others(5): Show |
2 | a0001c0004t0040g0293a0001c0021t0045g0049 | 2 | HG03239.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.891-2475_891-2464d others(14): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42553652 | |||||
| chr1:42553652
|
T | TACACACA others(7): Show |
2 | a0003c0008t0012g0265a0003c0008t0012g0294 | 2 | HG01243.hp1 HG04228.hp1 |
intron_variant | MODIFIER | c.891-2477_891-2464d others(16): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42553652 | |||||
| chr1:42553652
|
TAC | T | 47 | a0001c0001t0001g0160a0001c0001t0001g0164a0001c0001t0001g0197others(44): Show | 47 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(44): Show |
intron_variant | MODIFIER | c.891-2465_891-2464d others(4): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42553652 | |||||
| chr1:42553652
|
TACACACA others(1): Show |
T | 9 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(6): Show | 9 | HG01167.hp2 HG02109.hp2 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.891-2471_891-2464d others(10): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42553652 | |||||
| chr1:42553675
|
A | ACACACAC others(1): Show |
3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.891-2474_891-2473i others(10): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42553675 | |||||
| chr1:42553746
|
T | A | 1 | a0001c0005t0036g0309 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.891-2410T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42553746 | ||||||
| chr1:42553775
|
G | A | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.891-2381G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42553775 | ||||||
| chr1:42553806
|
T | C | 2 | a0001c0005t0005g0300a0001c0005t0005g0302 | 2 | NA19240.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.891-2350T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42553806 | ||||||
| chr1:42553889
|
A | G | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.891-2267A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42553889 | ||||||
| chr1:42553997
|
G | GTA | 4 | a0001c0001t0001g0107a0001c0001t0001g0142a0001c0006t0005g0320others(1): Show | 4 | HG01069.hp1 HG01071.hp1 HG02145.hp1 others(1): Show |
intron_variant | MODIFIER | c.891-2147_891-2146d others(4): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42553997 | |||||
| chr1:42553997
|
GTA | G | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.891-2147_891-2146d others(4): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42553997 | |||||
| chr1:42553999
|
A | G | 1 | a0001c0005t0036g0309 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.891-2157A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42553999 | ||||||
| chr1:42554060
|
C | T | 1 | a0001c0002t0002g0243 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.891-2096C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42554060 | ||||||
| chr1:42554155
|
CAT | C | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.891-1998_891-1997d others(4): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42554155 | |||||
| chr1:42554209
|
GATT | G | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.891-1943_891-1941d others(5): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42554209 | |||||
| chr1:42554213
|
A | C | 15 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0006t0004g0311others(12): Show | 15 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(12): Show |
intron_variant | MODIFIER | c.891-1943A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42554213 | ||||||
| chr1:42554275
|
C | CT | 39 | a0001c0001t0001g0088a0001c0001t0001g0152a0001c0001t0001g0160others(36): Show | 39 | HG01167.hp1 HG01167.hp2 HG01169.hp2 others(36): Show |
intron_variant | MODIFIER | c.891-1864dupT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42554275 | |||||
| chr1:42554275
|
CT | C | 35 | a0001c0001t0001g0161a0001c0001t0001g0175a0001c0001t0006g0171others(32): Show | 35 | HG00099.hp1 HG00741.hp2 HG01071.hp2 others(32): Show |
intron_variant | MODIFIER | c.891-1864delT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42554275 | |||||
| chr1:42554330
|
C | T | 27 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(24): Show | 27 | HG00099.hp1 HG00741.hp2 HG01071.hp2 others(24): Show |
intron_variant | MODIFIER | c.891-1826C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42554330 | ||||||
| chr1:42554497
|
C | T | 45 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(42): Show | 45 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(42): Show |
intron_variant | MODIFIER | c.891-1659C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42554497 | ||||||
| chr1:42554521
|
G | A | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.891-1635G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42554521 | ||||||
| chr1:42554554
|
GAC | G | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.891-1601_891-1600d others(4): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42554554 | ||||||
| chr1:42554556
|
C | T | 1 | a0001c0004t0003g0255 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.891-1600C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42554556 | ||||||
| chr1:42554559
|
GAGCCACC | G | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.891-1595_891-1589d others(9): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | 42554559 | |||||
| chr1:42554605
|
A | C | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.891-1551A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42554605 | ||||||
| chr1:42554739
|
C | A | 2 | a0001c0021t0045g0049a0003c0022t0046g0050 | 2 | HG02559.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.891-1417C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42554739 | ||||||
| chr1:42554799
|
C | T | 6 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(3): Show | 6 | HG01891.hp2 HG02970.hp2 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.891-1357C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42554799 | ||||||
| chr1:42555023
|
A | G | 10 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(7): Show | 10 | HG01167.hp2 HG02109.hp2 HG02572.hp2 others(7): Show |
intron_variant | MODIFIER | c.891-1133A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42555023 | ||||||
| chr1:42555210
|
T | G | 2 | a0001c0001t0001g0097a0001c0001t0001g0098 | 2 | HG02886.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.891-946T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42555210 | ||||||
| chr1:42555225
|
C | T | 1 | a0001c0004t0022g0060 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.891-931C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42555225 | ||||||
| chr1:42555265
|
A | G | 6 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0079others(3): Show | 6 | HG02559.hp1 HG02809.hp1 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.891-891A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42555265 | ||||||
| chr1:42555314
|
C | T | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.891-842C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42555314 | ||||||
| chr1:42555529
|
C | T | 3 | a0001c0004t0004g0199a0001c0004t0004g0200a0001c0004t0015g0201 | 3 | HG01069.hp2 HG02145.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.891-627C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42555529 | ||||||
| chr1:42555548
|
C | T | 1 | a0001c0001t0006g0189 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.891-608C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42555548 | ||||||
| chr1:42555556
|
T | G | 1 | a0001c0002t0002g0225 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.891-600T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42555556 | ||||||
| chr1:42555674
|
T | C | 101 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(98): Show | 101 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(98): Show |
intron_variant | MODIFIER | c.891-482T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42555674 | ||||||
| chr1:42555719
|
C | T | 2 | a0002c0016t0020g0006a0002c0016t0020g0010 | 2 | HG03654.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.891-437C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42555719 | ||||||
| chr1:42555780
|
G | A | 1 | a0001c0001t0010g0102 | 1 | NA19067.hp2 | intron_variant | MODIFIER | c.891-376G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42555780 | ||||||
| chr1:42555896
|
G | T | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.891-260G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42555896 | ||||||
| chr1:42555905
|
G | A | 40 | a0001c0002t0002g0281a0001c0002t0044g0257a0001c0004t0003g0291others(37): Show | 40 | HG00438.hp1 HG00673.hp1 HG01069.hp2 others(37): Show |
intron_variant | MODIFIER | c.891-251G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42555905 | ||||||
| chr1:42555925
|
G | C | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.891-231G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42555925 | ||||||
| chr1:42555985
|
C | T | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.891-171C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42555985 | ||||||
| chr1:42556024
|
G | C | 1 | a0001c0001t0001g0135 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.891-132G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42556024 | ||||||
| chr1:42556027
|
G | T | 101 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(98): Show | 101 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(98): Show |
intron_variant | MODIFIER | c.891-129G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42556027 | ||||||
| chr1:42556139
|
C | T | 178 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(175): Show | 178 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(175): Show |
intron_variant | MODIFIER | c.891-17C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | 42556139 | ||||||
| chr1:42556427
|
C | A | 1 | a0002c0003t0003g0043 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.1140+22C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42556427 | ||||||
| chr1:42556490
|
C | CAT | 6 | a0001c0006t0008g0314a0001c0007t0005g0313a0001c0007t0005g0315others(3): Show | 6 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(3): Show |
intron_variant | MODIFIER | c.1140+92_1140+93dup others(2): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | 42556490 | |||||
| chr1:42556621
|
A | C | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1140+216A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42556621 | ||||||
| chr1:42556682
|
G | T | 6 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(3): Show | 6 | HG01891.hp2 HG02970.hp2 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.1140+277G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42556682 | ||||||
| chr1:42556811
|
C | T | 2 | a0001c0001t0011g0183a0001c0001t0011g0184 | 2 | NA20752.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.1140+406C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42556811 | ||||||
| chr1:42556843
|
A | G | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1140+438A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42556843 | ||||||
| chr1:42557186
|
G | A | 1 | a0001c0001t0001g0125 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.1140+781G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42557186 | ||||||
| chr1:42557213
|
A | G | 2 | a0001c0006t0004g0311a0001c0006t0015g0312 | 2 | HG02965.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1140+808A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42557213 | ||||||
| chr1:42557217
|
A | G | 1 | a0001c0006t0008g0321 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1140+812A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42557217 | ||||||
| chr1:42557400
|
C | T | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1140+995C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42557400 | ||||||
| chr1:42557446
|
G | T | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1140+1041G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42557446 | ||||||
| chr1:42557478
|
A | ATTATCAA others(8): Show |
1 | a0001c0001t0001g0148 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.1140+1073_1140+107 others(19): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42557478 | ||||||
| chr1:42557634
|
ATAAT | A | 61 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(58): Show | 61 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(58): Show |
intron_variant | MODIFIER | c.1140+1233_1140+123 others(8): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | 42557634 | |||||
| chr1:42557636
|
A | AATTAAAT others(25): Show |
65 | a0001c0001t0001g0071a0001c0006t0004g0311a0001c0006t0005g0320others(62): Show | 65 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(62): Show |
intron_variant | MODIFIER | c.1140+1278_1140+130 others(36): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | 42557636 | |||||
| chr1:42557717
|
A | T | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.1140+1312A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42557717 | ||||||
| chr1:42557736
|
A | T | 1 | a0006c0029t0039g0052 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1140+1331A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42557736 | ||||||
| chr1:42557840
|
T | C | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1140+1435T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42557840 | ||||||
| chr1:42557888
|
GAAGAC | G | 129 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(126): Show | 129 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(126): Show |
intron_variant | MODIFIER | c.1140+1484_1140+148 others(9): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42557888 | ||||||
| chr1:42557966
|
C | T | 1 | a0003c0024t0012g0290 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1140+1561C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42557966 | ||||||
| chr1:42558042
|
G | GA | 100 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(97): Show | 100 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(97): Show |
intron_variant | MODIFIER | c.1140+1645dupA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | 42558042 | |||||
| chr1:42558199
|
A | G | 1 | a0001c0005t0036g0309 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1140+1794A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42558199 | ||||||
| chr1:42558216
|
T | C | 1 | a0006c0029t0039g0052 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1140+1811T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42558216 | ||||||
| chr1:42558385
|
A | T | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1140+1980A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42558385 | ||||||
| chr1:42558418
|
A | G | 1 | a0001c0001t0010g0106 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.1140+2013A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42558418 | ||||||
| chr1:42558420
|
G | A | 2 | a0001c0004t0004g0268a0001c0004t0004g0288 | 2 | NA18943.hp2 NA19082.hp2 |
intron_variant | MODIFIER | c.1140+2015G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42558420 | ||||||
| chr1:42558539
|
A | G | 1 | a0001c0004t0040g0293 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.1140+2134A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42558539 | ||||||
| chr1:42558542
|
T | G | 27 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(24): Show | 27 | HG00099.hp1 HG00741.hp2 HG01071.hp2 others(24): Show |
intron_variant | MODIFIER | c.1140+2137T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42558542 | ||||||
| chr1:42558765
|
G | A | 1 | a0001c0005t0036g0309 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1140+2360G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42558765 | ||||||
| chr1:42558820
|
A | G | 1 | a0001c0001t0001g0198 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1140+2415A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42558820 | ||||||
| chr1:42558963
|
G | A | 2 | a0001c0002t0002g0251a0001c0002t0002g0252 | 2 | HG00408.hp1 HG00423.hp2 |
intron_variant | MODIFIER | c.1140+2558G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42558963 | ||||||
| chr1:42558964
|
C | G | 2 | a0001c0002t0002g0251a0001c0002t0002g0252 | 2 | HG00408.hp1 HG00423.hp2 |
intron_variant | MODIFIER | c.1140+2559C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42558964 | ||||||
| chr1:42559073
|
C | T | 15 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0006t0004g0311others(12): Show | 15 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(12): Show |
intron_variant | MODIFIER | c.1140+2668C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42559073 | ||||||
| chr1:42559077
|
T | C | 179 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(176): Show | 179 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(176): Show |
intron_variant | MODIFIER | c.1140+2672T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42559077 | ||||||
| chr1:42559143
|
A | G | 4 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(1): Show | 4 | HG01891.hp2 HG02970.hp2 NA18522.hp2 others(1): Show |
intron_variant | MODIFIER | c.1140+2738A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42559143 | ||||||
| chr1:42559374
|
T | C | 2 | a0001c0001t0001g0068a0001c0019t0007g0099 | 2 | HG01884.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.1140+2969T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42559374 | ||||||
| chr1:42559451
|
A | G | 3 | a0001c0001t0001g0068a0001c0001t0006g0100a0001c0019t0007g0099 | 3 | HG01884.hp2 HG02622.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.1140+3046A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42559451 | ||||||
| chr1:42559476
|
A | G | 1 | a0001c0017t0006g0063 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1140+3071A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42559476 | ||||||
| chr1:42559548
|
G | C | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1140+3143G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42559548 | ||||||
| chr1:42559591
|
T | C | 2 | a0001c0021t0045g0049a0003c0022t0046g0050 | 2 | HG02559.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.1140+3186T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42559591 | ||||||
| chr1:42559662
|
C | A | 1 | a0001c0002t0043g0296 | 1 | NA19055.hp2 | intron_variant | MODIFIER | c.1140+3257C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42559662 | ||||||
| chr1:42559799
|
C | T | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1140+3394C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42559799 | ||||||
| chr1:42559877
|
C | G | 6 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(3): Show | 6 | HG01891.hp2 HG02970.hp2 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.1140+3472C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42559877 | ||||||
| chr1:42560002
|
C | A | 2 | a0001c0002t0002g0218a0001c0002t0043g0296 | 2 | NA18947.hp2 NA19055.hp2 |
intron_variant | MODIFIER | c.1140+3597C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42560002 | ||||||
| chr1:42560379
|
T | G | 2 | a0001c0005t0008g0202a0001c0005t0008g0203 | 2 | HG03209.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.1140+3974T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42560379 | ||||||
| chr1:42560393
|
A | G | 1 | a0001c0002t0002g0211 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.1140+3988A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42560393 | ||||||
| chr1:42560566
|
T | C | 1 | a0001c0005t0036g0309 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1140+4161T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42560566 | ||||||
| chr1:42560571
|
G | A | 1 | a0001c0001t0001g0086 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.1140+4166G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42560571 | ||||||
| chr1:42560597
|
C | T | 31 | a0001c0002t0002g0281a0001c0002t0044g0257a0001c0004t0004g0199others(28): Show | 31 | HG00438.hp1 HG00673.hp1 HG01069.hp2 others(28): Show |
intron_variant | MODIFIER | c.1140+4192C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42560597 | ||||||
| chr1:42560663
|
C | A | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.1140+4258C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42560663 | ||||||
| chr1:42560703
|
A | G | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1140+4298A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42560703 | ||||||
| chr1:42560732
|
G | A | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1140+4327G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42560732 | ||||||
| chr1:42560771
|
G | A | 4 | a0001c0001t0001g0001a0001c0001t0001g0125a0001c0001t0001g0126others(1): Show | 5 | HG01099.hp2 HG03491.hp2 HG03492.hp2 others(2): Show |
intron_variant | MODIFIER | c.1140+4366G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42560771 | ||||||
| chr1:42560825
|
C | T | 3 | a0001c0002t0002g0217a0001c0002t0002g0229a0001c0002t0002g0232 | 3 | HG02083.hp1 NA18940.hp1 NA18962.hp1 |
intron_variant | MODIFIER | c.1140+4420C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42560825 | ||||||
| chr1:42560913
|
T | G | 1 | a0001c0001t0006g0143 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1140+4508T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42560913 | ||||||
| chr1:42560999
|
A | G | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.1140+4594A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42560999 | ||||||
| chr1:42561190
|
C | T | 1 | a0001c0021t0045g0049 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1140+4785C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42561190 | ||||||
| chr1:42561254
|
C | T | 1 | a0002c0003t0009g0007 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1140+4849C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42561254 | ||||||
| chr1:42561278
|
A | G | 185 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(182): Show | 185 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(182): Show |
intron_variant | MODIFIER | c.1140+4873A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42561278 | ||||||
| chr1:42561391
|
G | A | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.1141-4905G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42561391 | ||||||
| chr1:42561452
|
A | G | 1 | a0001c0021t0045g0049 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1141-4844A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42561452 | ||||||
| chr1:42561589
|
A | T | 6 | a0001c0006t0008g0314a0001c0007t0005g0313a0001c0007t0005g0315others(3): Show | 6 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(3): Show |
intron_variant | MODIFIER | c.1141-4707A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42561589 | ||||||
| chr1:42561630
|
TA | T | 10 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(7): Show | 10 | HG01167.hp2 HG02109.hp2 HG02572.hp2 others(7): Show |
intron_variant | MODIFIER | c.1141-4663delA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | 42561630 | |||||
| chr1:42561716
|
C | T | 1 | a0001c0001t0006g0192 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.1141-4580C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42561716 | ||||||
| chr1:42562326
|
G | A | 1 | a0001c0001t0001g0198 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1141-3970G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42562326 | ||||||
| chr1:42562430
|
C | T | 2 | a0001c0001t0001g0069a0001c0001t0001g0070 | 2 | HG00735.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.1141-3866C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42562430 | ||||||
| chr1:42562432
|
T | C | 179 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(176): Show | 179 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(176): Show |
intron_variant | MODIFIER | c.1141-3864T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42562432 | ||||||
| chr1:42562477
|
A | G | 3 | a0002c0003t0003g0030a0002c0003t0003g0037a0002c0003t0014g0029 | 3 | NA18612.hp1 NA18962.hp2 NA18975.hp1 |
intron_variant | MODIFIER | c.1141-3819A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42562477 | ||||||
| chr1:42562567
|
C | T | 2 | a0002c0003t0003g0045a0002c0003t0003g0046 | 2 | HG01175.hp1 HG01515.hp2 |
intron_variant | MODIFIER | c.1141-3729C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42562567 | ||||||
| chr1:42562673
|
C | T | 7 | a0001c0006t0004g0311a0001c0006t0005g0320a0001c0006t0008g0318others(4): Show | 7 | HG02145.hp1 HG02717.hp1 HG02723.hp1 others(4): Show |
intron_variant | MODIFIER | c.1141-3623C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42562673 | ||||||
| chr1:42562810
|
T | G | 2 | a0002c0016t0020g0006a0002c0016t0020g0010 | 2 | HG03654.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.1141-3486T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42562810 | ||||||
| chr1:42562859
|
A | G | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1141-3437A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42562859 | ||||||
| chr1:42562864
|
C | T | 129 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(126): Show | 129 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(126): Show |
intron_variant | MODIFIER | c.1141-3432C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42562864 | ||||||
| chr1:42562930
|
C | T | 31 | a0001c0002t0002g0281a0001c0002t0044g0257a0001c0004t0004g0199others(28): Show | 31 | HG00438.hp1 HG00673.hp1 HG01069.hp2 others(28): Show |
intron_variant | MODIFIER | c.1141-3366C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42562930 | ||||||
| chr1:42562987
|
T | C | 2 | a0001c0021t0045g0049a0003c0022t0046g0050 | 2 | HG02559.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.1141-3309T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42562987 | ||||||
| chr1:42563040
|
G | A | 129 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(126): Show | 129 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(126): Show |
intron_variant | MODIFIER | c.1141-3256G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42563040 | ||||||
| chr1:42563045
|
G | A | 12 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(9): Show | 12 | HG01167.hp2 HG02109.hp2 HG02559.hp2 others(9): Show |
intron_variant | MODIFIER | c.1141-3251G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42563045 | ||||||
| chr1:42563202
|
C | T | 1 | a0001c0001t0001g0161 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.1141-3094C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42563202 | ||||||
| chr1:42563209
|
G | A | 29 | a0001c0002t0002g0281a0001c0002t0044g0257a0001c0004t0004g0199others(26): Show | 29 | HG00438.hp1 HG00673.hp1 HG01069.hp2 others(26): Show |
intron_variant | MODIFIER | c.1141-3087G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42563209 | ||||||
| chr1:42563292
|
A | G | 101 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(98): Show | 101 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(98): Show |
intron_variant | MODIFIER | c.1141-3004A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42563292 | ||||||
| chr1:42563331
|
A | G | 1 | a0001c0001t0001g0117 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.1141-2965A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42563331 | ||||||
| chr1:42563404
|
A | G | 10 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(7): Show | 10 | HG01167.hp2 HG02109.hp2 HG02572.hp2 others(7): Show |
intron_variant | MODIFIER | c.1141-2892A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42563404 | ||||||
| chr1:42563475
|
G | T | 1 | a0001c0021t0045g0049 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1141-2821G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42563475 | ||||||
| chr1:42563523
|
C | T | 4 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(1): Show | 4 | HG01891.hp2 HG02970.hp2 NA18522.hp2 others(1): Show |
intron_variant | MODIFIER | c.1141-2773C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42563523 | ||||||
| chr1:42563609
|
G | T | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1141-2687G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42563609 | ||||||
| chr1:42563619
|
G | A | 1 | a0001c0004t0002g0298 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.1141-2677G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42563619 | ||||||
| chr1:42563631
|
A | G | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1141-2665A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42563631 | ||||||
| chr1:42563645
|
C | A | 1 | a0001c0001t0010g0106 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.1141-2651C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42563645 | ||||||
| chr1:42563647
|
A | G | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.1141-2649A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42563647 | ||||||
| chr1:42563668
|
G | A | 8 | a0001c0001t0001g0175a0001c0001t0006g0176a0001c0001t0006g0178others(5): Show | 8 | HG00741.hp2 HG01071.hp2 HG01081.hp1 others(5): Show |
intron_variant | MODIFIER | c.1141-2628G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42563668 | ||||||
| chr1:42563853
|
G | A | 101 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(98): Show | 101 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(98): Show |
intron_variant | MODIFIER | c.1141-2443G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42563853 | ||||||
| chr1:42563876
|
C | CA | 9 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(6): Show | 9 | HG01167.hp2 HG02572.hp2 HG02886.hp1 others(6): Show |
intron_variant | MODIFIER | c.1141-2407dupA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | 42563876 | |||||
| chr1:42564055
|
C | T | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1141-2241C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42564055 | ||||||
| chr1:42564117
|
A | G | 46 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(43): Show | 46 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(43): Show |
intron_variant | MODIFIER | c.1141-2179A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42564117 | ||||||
| chr1:42564326
|
G | GT | 14 | a0001c0002t0002g0212a0001c0005t0008g0202a0001c0005t0008g0203others(11): Show | 14 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(11): Show |
intron_variant | MODIFIER | c.1141-1962dupT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | 42564326 | |||||
| chr1:42564356
|
A | G | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.1141-1940A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42564356 | ||||||
| chr1:42564374
|
A | G | 184 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(181): Show | 185 | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(182): Show |
intron_variant | MODIFIER | c.1141-1922A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42564374 | ||||||
| chr1:42564444
|
C | T | 129 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(126): Show | 129 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(126): Show |
intron_variant | MODIFIER | c.1141-1852C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42564444 | ||||||
| chr1:42564460
|
G | A | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1141-1836G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42564460 | ||||||
| chr1:42564464
|
C | T | 46 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(43): Show | 46 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(43): Show |
intron_variant | MODIFIER | c.1141-1832C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42564464 | ||||||
| chr1:42564487
|
G | A | 179 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(176): Show | 179 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(176): Show |
intron_variant | MODIFIER | c.1141-1809G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42564487 | ||||||
| chr1:42564519
|
A | ACCTCAGA others(17): Show |
1 | a0006c0029t0039g0052 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1141-1773_1141-177 others(28): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | 42564519 | |||||
| chr1:42564519
|
A | ACCTCAGG others(17): Show |
178 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(175): Show | 178 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(175): Show |
intron_variant | MODIFIER | c.1141-1773_1141-177 others(28): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | 42564519 | |||||
| chr1:42564546
|
G | A | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1141-1750G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42564546 | ||||||
| chr1:42564548
|
G | A | 1 | a0001c0001t0001g0117 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.1141-1748G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42564548 | ||||||
| chr1:42564680
|
A | G | 1 | a0001c0001t0011g0184 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.1141-1616A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42564680 | ||||||
| chr1:42564827
|
C | T | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1141-1469C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42564827 | ||||||
| chr1:42564910
|
G | A | 9 | a0001c0004t0003g0291a0001c0004t0009g0292a0001c0004t0040g0293others(6): Show | 9 | HG01167.hp1 HG01169.hp2 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.1141-1386G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42564910 | ||||||
| chr1:42564941
|
G | A | 101 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(98): Show | 101 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(98): Show |
intron_variant | MODIFIER | c.1141-1355G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42564941 | ||||||
| chr1:42565001
|
G | A | 1 | a0001c0004t0004g0280 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.1141-1295G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42565001 | ||||||
| chr1:42565027
|
T | A | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1141-1269T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42565027 | ||||||
| chr1:42565254
|
T | C | 16 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0006t0004g0311others(13): Show | 16 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(13): Show |
intron_variant | MODIFIER | c.1141-1042T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42565254 | ||||||
| chr1:42565398
|
A | G | 1 | a0001c0010t0004g0275 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.1141-898A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42565398 | ||||||
| chr1:42565445
|
G | A | 129 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(126): Show | 129 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(126): Show |
intron_variant | MODIFIER | c.1141-851G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42565445 | ||||||
| chr1:42565608
|
A | G | 101 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(98): Show | 101 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(98): Show |
intron_variant | MODIFIER | c.1141-688A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42565608 | ||||||
| chr1:42565742
|
T | G | 129 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(126): Show | 129 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(126): Show |
intron_variant | MODIFIER | c.1141-554T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42565742 | ||||||
| chr1:42565916
|
G | GAC | 172 | a0001c0001t0001g0073a0001c0002t0002g0204a0001c0002t0002g0205others(169): Show | 172 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(169): Show |
intron_variant | MODIFIER | c.1141-360_1141-359d others(4): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | 42565916 | |||||
| chr1:42565916
|
G | GACAC | 5 | a0001c0002t0002g0211a0002c0003t0003g0012a0002c0003t0003g0013others(2): Show | 5 | HG02015.hp1 HG02622.hp1 NA19004.hp1 others(2): Show |
intron_variant | MODIFIER | c.1141-362_1141-359d others(6): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | 42565916 | |||||
| chr1:42565976
|
T | A | 1 | a0002c0003t0004g0008 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1141-320T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42565976 | ||||||
| chr1:42566040
|
GTAAGT | G | 9 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(6): Show | 9 | HG01167.hp2 HG02109.hp2 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.1141-254_1141-250d others(7): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | 42566040 | |||||
| chr1:42566051
|
G | C | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1141-245G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42566051 | ||||||
| chr1:42566250
|
A | G | 1 | a0003c0022t0046g0050 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1141-46A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 10/20 | chr1 | 42566250 | ||||||
| chr1:42566538
|
T | G | 1 | a0001c0002t0002g0216 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.1320+63T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42566538 | ||||||
| chr1:42566649
|
T | C | 6 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(3): Show | 6 | HG01891.hp2 HG02970.hp2 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.1320+174T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42566649 | ||||||
| chr1:42566656
|
C | G | 6 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(3): Show | 6 | HG01891.hp2 HG02970.hp2 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.1320+181C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42566656 | ||||||
| chr1:42566753
|
C | G | 1 | a0004c0011t0009g0005 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.1320+278C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42566753 | ||||||
| chr1:42566823
|
G | A | 319 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(316): Show | 320 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(317): Show |
intron_variant | MODIFIER | c.1320+348G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42566823 | ||||||
| chr1:42566854
|
G | A | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1320+379G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42566854 | ||||||
| chr1:42567007
|
G | A | 3 | a0001c0002t0002g0281a0001c0004t0004g0282a0001c0004t0004g0283 | 3 | NA19002.hp2 NA19005.hp2 NA19067.hp1 |
intron_variant | MODIFIER | c.1320+532G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42567007 | ||||||
| chr1:42567078
|
G | A | 10 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(7): Show | 10 | HG01167.hp2 HG02109.hp2 HG02572.hp2 others(7): Show |
intron_variant | MODIFIER | c.1320+603G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42567078 | ||||||
| chr1:42567183
|
AG | A | 129 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(126): Show | 129 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(126): Show |
intron_variant | MODIFIER | c.1320+712delG | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr1 | 42567183 | |||||
| chr1:42567204
|
T | G | 6 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(3): Show | 6 | HG01891.hp2 HG02970.hp2 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.1320+729T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42567204 | ||||||
| chr1:42567235
|
T | C | 61 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(58): Show | 61 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(58): Show |
intron_variant | MODIFIER | c.1320+760T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42567235 | ||||||
| chr1:42567358
|
C | T | 45 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(42): Show | 45 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(42): Show |
intron_variant | MODIFIER | c.1320+883C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42567358 | ||||||
| chr1:42567484
|
G | A | 1 | a0001c0001t0001g0113 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.1320+1009G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42567484 | ||||||
| chr1:42567562
|
G | A | 6 | a0001c0001t0001g0065a0001c0001t0001g0066a0001c0001t0001g0086others(3): Show | 6 | HG00639.hp2 HG02257.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.1320+1087G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42567562 | ||||||
| chr1:42567713
|
AT | A | 101 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(98): Show | 101 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(98): Show |
intron_variant | MODIFIER | c.1320+1241delT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr1 | 42567713 | |||||
| chr1:42567951
|
AG | A | 9 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(6): Show | 9 | HG01167.hp2 HG02109.hp2 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.1320+1477delG | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42567951 | ||||||
| chr1:42567952
|
G | A | 172 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(169): Show | 172 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(169): Show |
intron_variant | MODIFIER | c.1320+1477G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42567952 | ||||||
| chr1:42567954
|
G | A | 12 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(9): Show | 12 | HG01167.hp2 HG02109.hp2 HG02572.hp2 others(9): Show |
intron_variant | MODIFIER | c.1320+1479G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42567954 | ||||||
| chr1:42567956
|
G | A | 1 | a0002c0003t0005g0023 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.1320+1481G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42567956 | ||||||
| chr1:42568109
|
A | G | 1 | a0001c0001t0001g0125 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.1320+1634A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42568109 | ||||||
| chr1:42568260
|
G | A | 101 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(98): Show | 101 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(98): Show |
intron_variant | MODIFIER | c.1320+1785G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42568260 | ||||||
| chr1:42568302
|
G | T | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1320+1827G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42568302 | ||||||
| chr1:42568335
|
G | A | 4 | a0002c0003t0003g0014a0002c0003t0003g0028a0002c0003t0003g0051others(1): Show | 4 | HG00733.hp2 HG01516.hp1 HG02280.hp2 others(1): Show |
intron_variant | MODIFIER | c.1320+1860G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42568335 | ||||||
| chr1:42568362
|
G | A | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1320+1887G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42568362 | ||||||
| chr1:42568434
|
G | A | 40 | a0001c0002t0002g0281a0001c0002t0044g0257a0001c0004t0003g0291others(37): Show | 40 | HG00438.hp1 HG00673.hp1 HG01069.hp2 others(37): Show |
intron_variant | MODIFIER | c.1320+1959G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42568434 | ||||||
| chr1:42568471
|
G | A | 46 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(43): Show | 46 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(43): Show |
intron_variant | MODIFIER | c.1320+1996G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42568471 | ||||||
| chr1:42568518
|
G | C | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.1320+2043G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42568518 | ||||||
| chr1:42568577
|
C | T | 101 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(98): Show | 101 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(98): Show |
intron_variant | MODIFIER | c.1320+2102C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42568577 | ||||||
| chr1:42568665
|
A | G | 179 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(176): Show | 179 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(176): Show |
intron_variant | MODIFIER | c.1320+2190A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42568665 | ||||||
| chr1:42568709
|
T | A | 1 | a0001c0005t0036g0309 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1320+2234T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42568709 | ||||||
| chr1:42568775
|
C | CA | 17 | a0001c0004t0004g0284a0001c0005t0008g0202a0001c0005t0008g0203others(14): Show | 17 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(14): Show |
intron_variant | MODIFIER | c.1320+2315dupA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr1 | 42568775 | |||||
| chr1:42568775
|
CA | C | 59 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(56): Show | 59 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(56): Show |
intron_variant | MODIFIER | c.1320+2315delA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr1 | 42568775 | |||||
| chr1:42568821
|
T | C | 2 | a0001c0005t0008g0202a0001c0005t0008g0203 | 2 | HG03209.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.1320+2346T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42568821 | ||||||
| chr1:42568898
|
G | A | 1 | a0003c0022t0046g0050 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1320+2423G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42568898 | ||||||
| chr1:42568921
|
C | T | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1320+2446C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42568921 | ||||||
| chr1:42568942
|
C | CA | 7 | a0001c0001t0001g0109a0001c0001t0001g0113a0001c0001t0001g0139others(4): Show | 7 | HG00597.hp2 HG01109.hp2 HG01261.hp1 others(4): Show |
intron_variant | MODIFIER | c.1320+2485dupA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr1 | 42568942 | |||||
| chr1:42568942
|
C | CAA | 6 | a0001c0002t0002g0246a0001c0002t0002g0247a0001c0002t0002g0248others(3): Show | 6 | HG00621.hp2 NA18949.hp2 NA18971.hp2 others(3): Show |
intron_variant | MODIFIER | c.1320+2484_1320+248 others(6): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr1 | 42568942 | |||||
| chr1:42568942
|
CA | C | 57 | a0001c0004t0004g0284a0001c0005t0005g0300a0001c0005t0005g0301others(54): Show | 57 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(54): Show |
intron_variant | MODIFIER | c.1320+2485delA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr1 | 42568942 | |||||
| chr1:42569010
|
A | G | 100 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(97): Show | 101 | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(98): Show |
intron_variant | MODIFIER | c.1320+2535A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42569010 | ||||||
| chr1:42569048
|
G | A | 1 | a0001c0004t0002g0298 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.1320+2573G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42569048 | ||||||
| chr1:42569069
|
T | C | 179 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(176): Show | 179 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(176): Show |
intron_variant | MODIFIER | c.1320+2594T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42569069 | ||||||
| chr1:42569126
|
C | T | 1 | a0001c0001t0006g0100 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.1320+2651C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42569126 | ||||||
| chr1:42569157
|
G | A | 5 | a0001c0002t0002g0211a0001c0002t0002g0218a0001c0002t0002g0220others(2): Show | 5 | NA18947.hp2 NA18959.hp2 NA19009.hp1 others(2): Show |
intron_variant | MODIFIER | c.1320+2682G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42569157 | ||||||
| chr1:42569204
|
T | C | 101 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(98): Show | 101 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(98): Show |
intron_variant | MODIFIER | c.1320+2729T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42569204 | ||||||
| chr1:42569208
|
A | G | 1 | a0001c0001t0001g0198 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1320+2733A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42569208 | ||||||
| chr1:42569219
|
G | A | 1 | a0001c0001t0001g0119 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.1320+2744G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42569219 | ||||||
| chr1:42569554
|
T | C | 2 | a0001c0004t0004g0258a0001c0004t0004g0261 | 2 | HG03491.hp1 HG03834.hp2 |
intron_variant | MODIFIER | c.1320+3079T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42569554 | ||||||
| chr1:42569610
|
G | A | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1320+3135G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42569610 | ||||||
| chr1:42569676
|
T | C | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.1320+3201T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42569676 | ||||||
| chr1:42569741
|
G | C | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.1320+3266G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42569741 | ||||||
| chr1:42569778
|
G | A | 1 | a0001c0004t0050g0279 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.1320+3303G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42569778 | ||||||
| chr1:42569786
|
A | C | 1 | a0001c0004t0050g0279 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.1320+3311A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42569786 | ||||||
| chr1:42569939
|
A | T | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.1320+3464A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42569939 | ||||||
| chr1:42569949
|
C | G | 179 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(176): Show | 179 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(176): Show |
intron_variant | MODIFIER | c.1320+3474C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42569949 | ||||||
| chr1:42570102
|
G | A | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.1320+3627G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42570102 | ||||||
| chr1:42570160
|
A | T | 5 | a0001c0006t0005g0320a0001c0006t0008g0318a0001c0006t0008g0321others(2): Show | 5 | HG02145.hp1 HG02717.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.1320+3685A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42570160 | ||||||
| chr1:42570402
|
T | C | 2 | a0001c0021t0045g0049a0003c0022t0046g0050 | 2 | HG02559.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.1320+3927T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42570402 | ||||||
| chr1:42570551
|
C | T | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1320+4076C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42570551 | ||||||
| chr1:42570581
|
C | T | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.1320+4106C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42570581 | ||||||
| chr1:42570701
|
T | C | 10 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(7): Show | 10 | HG01167.hp2 HG02109.hp2 HG02572.hp2 others(7): Show |
intron_variant | MODIFIER | c.1320+4226T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42570701 | ||||||
| chr1:42570718
|
CAG | C | 101 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(98): Show | 101 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(98): Show |
intron_variant | MODIFIER | c.1320+4244_1320+424 others(6): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42570718 | ||||||
| chr1:42570791
|
T | A | 13 | a0001c0006t0004g0311a0001c0006t0005g0320a0001c0006t0008g0314others(10): Show | 13 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(10): Show |
intron_variant | MODIFIER | c.1320+4316T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42570791 | ||||||
| chr1:42570810
|
A | G | 179 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(176): Show | 179 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(176): Show |
intron_variant | MODIFIER | c.1320+4335A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42570810 | ||||||
| chr1:42570911
|
T | C | 6 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(3): Show | 6 | HG01891.hp2 HG02970.hp2 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.1320+4436T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42570911 | ||||||
| chr1:42570997
|
C | T | 1 | a0001c0013t0019g0081 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1320+4522C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42570997 | ||||||
| chr1:42571029
|
C | T | 93 | a0001c0001t0001g0001a0001c0001t0001g0068a0001c0001t0001g0069others(90): Show | 94 | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(91): Show |
intron_variant | MODIFIER | c.1320+4554C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42571029 | ||||||
| chr1:42571100
|
G | A | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1320+4625G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42571100 | ||||||
| chr1:42571456
|
G | C | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1320+4981G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42571456 | ||||||
| chr1:42571490
|
GA | G | 126 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(123): Show | 126 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(123): Show |
intron_variant | MODIFIER | c.1320+5026delA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr1 | 42571490 | |||||
| chr1:42571545
|
G | A | 101 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(98): Show | 101 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(98): Show |
intron_variant | MODIFIER | c.1320+5070G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42571545 | ||||||
| chr1:42571622
|
G | A | 2 | a0003c0012t0048g0062a0003c0012t0049g0061 | 2 | HG03471.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.1320+5147G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42571622 | ||||||
| chr1:42571803
|
C | T | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1321-5217C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42571803 | ||||||
| chr1:42571849
|
T | G | 1 | a0001c0017t0006g0063 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1321-5171T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42571849 | ||||||
| chr1:42571885
|
C | T | 45 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(42): Show | 45 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(42): Show |
intron_variant | MODIFIER | c.1321-5135C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42571885 | ||||||
| chr1:42571886
|
A | G | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.1321-5134A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42571886 | ||||||
| chr1:42571932
|
T | A | 185 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(182): Show | 185 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(182): Show |
intron_variant | MODIFIER | c.1321-5088T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42571932 | ||||||
| chr1:42571940
|
C | T | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1321-5080C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42571940 | ||||||
| chr1:42571945
|
T | C | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.1321-5075T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42571945 | ||||||
| chr1:42572013
|
C | T | 178 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(175): Show | 178 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(175): Show |
intron_variant | MODIFIER | c.1321-5007C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42572013 | ||||||
| chr1:42572015
|
C | A | 1 | a0001c0017t0006g0063 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1321-5005C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42572015 | ||||||
| chr1:42572194
|
A | G | 1 | a0001c0001t0006g0143 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1321-4826A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42572194 | ||||||
| chr1:42572222
|
G | C | 1 | a0001c0001t0006g0143 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1321-4798G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42572222 | ||||||
| chr1:42572444
|
C | T | 9 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(6): Show | 9 | HG01167.hp2 HG02109.hp2 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.1321-4576C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42572444 | ||||||
| chr1:42572629
|
A | ATTTTTTT others(9): Show |
1 | a0001c0004t0004g0280 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.1321-4386_1321-438 others(20): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr1 | 42572629 | |||||
| chr1:42572784
|
T | C | 101 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(98): Show | 101 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(98): Show |
intron_variant | MODIFIER | c.1321-4236T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42572784 | ||||||
| chr1:42572900
|
G | A | 1 | a0001c0001t0013g0174 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.1321-4120G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42572900 | ||||||
| chr1:42572957
|
A | G | 49 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.1321-4063A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42572957 | ||||||
| chr1:42573001
|
A | G | 8 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(5): Show | 8 | HG01167.hp2 HG02109.hp2 HG02886.hp1 others(5): Show |
intron_variant | MODIFIER | c.1321-4019A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42573001 | ||||||
| chr1:42573056
|
C | T | 2 | a0001c0021t0045g0049a0003c0022t0046g0050 | 2 | HG02559.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.1321-3964C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42573056 | ||||||
| chr1:42573170
|
A | T | 313 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(310): Show | 314 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(311): Show |
intron_variant | MODIFIER | c.1321-3850A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42573170 | ||||||
| chr1:42573268
|
A | C | 4 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(1): Show | 4 | HG01891.hp2 HG02970.hp2 NA18522.hp2 others(1): Show |
intron_variant | MODIFIER | c.1321-3752A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42573268 | ||||||
| chr1:42573274
|
A | G | 1 | a0001c0001t0001g0150 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.1321-3746A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42573274 | ||||||
| chr1:42573380
|
A | G | 1 | a0001c0001t0001g0090 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1321-3640A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42573380 | ||||||
| chr1:42573443
|
T | A | 1 | a0002c0003t0014g0038 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.1321-3577T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42573443 | ||||||
| chr1:42573730
|
T | C | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1321-3290T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42573730 | ||||||
| chr1:42573801
|
A | G | 13 | a0001c0006t0004g0311a0001c0006t0005g0320a0001c0006t0008g0314others(10): Show | 13 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(10): Show |
intron_variant | MODIFIER | c.1321-3219A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42573801 | ||||||
| chr1:42574396
|
A | C | 234 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(231): Show | 235 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(232): Show |
intron_variant | MODIFIER | c.1321-2624A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42574396 | ||||||
| chr1:42574406
|
T | C | 230 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(227): Show | 231 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(228): Show |
intron_variant | MODIFIER | c.1321-2614T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42574406 | ||||||
| chr1:42574435
|
G | A | 1 | a0001c0002t0002g0259 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1321-2585G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42574435 | ||||||
| chr1:42574839
|
T | C | 3 | a0001c0002t0002g0215a0001c0002t0002g0244a0001c0002t0002g0245 | 3 | HG00558.hp1 HG02056.hp2 HG02080.hp1 |
intron_variant | MODIFIER | c.1321-2181T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42574839 | ||||||
| chr1:42574974
|
C | T | 2 | a0001c0021t0045g0049a0003c0022t0046g0050 | 2 | HG02559.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.1321-2046C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42574974 | ||||||
| chr1:42574990
|
G | A | 1 | a0002c0003t0003g0035 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.1321-2030G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42574990 | ||||||
| chr1:42575019
|
G | T | 230 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(227): Show | 231 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(228): Show |
intron_variant | MODIFIER | c.1321-2001G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42575019 | ||||||
| chr1:42575044
|
C | A | 1 | a0002c0003t0009g0007 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1321-1976C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42575044 | ||||||
| chr1:42575129
|
C | G | 1 | a0001c0002t0002g0245 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.1321-1891C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42575129 | ||||||
| chr1:42575340
|
T | G | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1321-1680T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42575340 | ||||||
| chr1:42575366
|
TTGGCTGG others(43): Show |
T | 3 | a0002c0003t0003g0012a0002c0003t0003g0013a0002c0003t0016g0021 | 3 | HG02015.hp1 NA19004.hp1 NA19084.hp1 |
intron_variant | MODIFIER | c.1321-1653_1321-160 others(54): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42575366 | ||||||
| chr1:42575518
|
C | T | 219 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(216): Show | 220 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(217): Show |
intron_variant | MODIFIER | c.1321-1502C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42575518 | ||||||
| chr1:42575592
|
G | A | 1 | a0001c0001t0010g0196 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.1321-1428G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42575592 | ||||||
| chr1:42575611
|
C | T | 4 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005others(1): Show | 4 | HG02896.hp1 HG03195.hp1 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.1321-1409C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42575611 | ||||||
| chr1:42575625
|
G | T | 9 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(6): Show | 9 | HG01167.hp2 HG02109.hp2 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.1321-1395G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42575625 | ||||||
| chr1:42575649
|
C | CAAAAAAA others(3): Show |
2 | a0001c0001t0013g0174a0002c0003t0003g0030 | 2 | HG02683.hp1 NA18612.hp1 |
intron_variant | MODIFIER | c.1321-1362_1321-136 others(14): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr1 | 42575649 | |||||
| chr1:42575649
|
C | CAAAAAAA others(4): Show |
70 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(67): Show | 70 | HG00099.hp1 HG00323.hp2 HG00609.hp2 others(67): Show |
intron_variant | MODIFIER | c.1321-1362_1321-136 others(15): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr1 | 42575649 | |||||
| chr1:42575649
|
C | CAAAAAAA others(5): Show |
18 | a0001c0001t0001g0198a0001c0005t0005g0300a0001c0005t0005g0302others(15): Show | 18 | HG01167.hp2 HG01891.hp2 HG02109.hp2 others(15): Show |
intron_variant | MODIFIER | c.1321-1362_1321-136 others(16): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr1 | 42575649 | |||||
| chr1:42575649
|
C | CAAAAAAA others(6): Show |
4 | a0001c0005t0005g0301a0001c0005t0036g0309a0005c0020t0008g0002others(1): Show | 4 | HG02622.hp1 HG03098.hp1 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.1321-1362_1321-136 others(17): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr1 | 42575649 | |||||
| chr1:42575649
|
C | CAAAAAAA others(7): Show |
3 | a0001c0001t0001g0103a0001c0001t0001g0141a0003c0014t0029g0064 | 3 | HG00323.hp1 HG01169.hp1 HG02572.hp1 |
intron_variant | MODIFIER | c.1321-1362_1321-136 others(18): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr1 | 42575649 | |||||
| chr1:42575649
|
C | CAAAAAAA others(8): Show |
89 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(86): Show | 90 | HG00280.hp2 HG00408.hp2 HG00438.hp2 others(87): Show |
intron_variant | MODIFIER | c.1321-1362_1321-136 others(19): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr1 | 42575649 | |||||
| chr1:42575649
|
C | CAAAAAAA others(9): Show |
20 | a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0090others(17): Show | 20 | HG00423.hp1 HG00738.hp2 HG01109.hp2 others(17): Show |
intron_variant | MODIFIER | c.1321-1362_1321-136 others(20): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr1 | 42575649 | |||||
| chr1:42575649
|
C | CAAAAAAA others(10): Show |
1 | a0001c0006t0005g0320 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1321-1362_1321-136 others(21): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr1 | 42575649 | |||||
| chr1:42575649
|
C | CAAAAAAA others(11): Show |
45 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(42): Show | 45 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(42): Show |
intron_variant | MODIFIER | c.1321-1362_1321-136 others(22): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr1 | 42575649 | |||||
| chr1:42575649
|
C | CAAAAAAA others(12): Show |
20 | a0001c0002t0002g0211a0001c0002t0002g0213a0001c0002t0002g0225others(17): Show | 20 | HG00423.hp2 HG01175.hp2 HG01891.hp1 others(17): Show |
intron_variant | MODIFIER | c.1321-1362_1321-136 others(23): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr1 | 42575649 | |||||
| chr1:42575649
|
C | CAAAAAAA others(13): Show |
27 | a0001c0001t0001g0152a0001c0001t0001g0153a0001c0001t0001g0159others(24): Show | 27 | HG00673.hp1 HG01074.hp2 HG01243.hp1 others(24): Show |
intron_variant | MODIFIER | c.1321-1362_1321-136 others(24): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr1 | 42575649 | |||||
| chr1:42575649
|
C | CAAAAAAA others(14): Show |
13 | a0001c0001t0001g0150a0001c0001t0001g0151a0001c0004t0003g0291others(10): Show | 13 | HG00438.hp1 HG01069.hp2 HG01167.hp1 others(10): Show |
intron_variant | MODIFIER | c.1321-1362_1321-136 others(25): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr1 | 42575649 | |||||
| chr1:42575649
|
C | CAAAAAAA others(15): Show |
1 | a0001c0004t0004g0268 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.1321-1362_1321-136 others(26): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr1 | 42575649 | |||||
| chr1:42575662
|
G | A | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1321-1358G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42575662 | ||||||
| chr1:42576076
|
T | A | 11 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(8): Show | 11 | HG01167.hp2 HG02109.hp2 HG02572.hp2 others(8): Show |
intron_variant | MODIFIER | c.1321-944T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42576076 | ||||||
| chr1:42576255
|
G | C | 1 | a0001c0002t0002g0218 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.1321-765G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42576255 | ||||||
| chr1:42576272
|
A | G | 45 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(42): Show | 45 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(42): Show |
intron_variant | MODIFIER | c.1321-748A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42576272 | ||||||
| chr1:42576412
|
A | G | 1 | a0001c0004t0009g0272 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.1321-608A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42576412 | ||||||
| chr1:42576454
|
A | G | 234 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(231): Show | 235 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(232): Show |
intron_variant | MODIFIER | c.1321-566A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42576454 | ||||||
| chr1:42576571
|
A | G | 1 | a0001c0001t0001g0198 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1321-449A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42576571 | ||||||
| chr1:42576621
|
A | G | 4 | a0002c0003t0003g0014a0002c0003t0003g0028a0002c0003t0003g0051others(1): Show | 4 | HG00733.hp2 HG01516.hp1 HG02280.hp2 others(1): Show |
intron_variant | MODIFIER | c.1321-399A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | 42576621 | ||||||
| chr1:42577375
|
A | T | 1 | a0001c0010t0035g0274 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.1530+146A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42577375 | ||||||
| chr1:42577458
|
G | A | 1 | a0003c0014t0029g0064 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.1530+229G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42577458 | ||||||
| chr1:42577471
|
TAAAG | T | 11 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(8): Show | 11 | HG01167.hp2 HG02109.hp2 HG02572.hp2 others(8): Show |
intron_variant | MODIFIER | c.1530+245_1530+248d others(6): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr1 | 42577471 | |||||
| chr1:42577566
|
G | C | 45 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(42): Show | 45 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(42): Show |
intron_variant | MODIFIER | c.1530+337G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42577566 | ||||||
| chr1:42577614
|
G | A | 4 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005others(1): Show | 4 | HG02896.hp1 HG03195.hp1 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.1530+385G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42577614 | ||||||
| chr1:42577633
|
T | TTTTA | 13 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(10): Show | 13 | HG01167.hp2 HG02109.hp2 HG02572.hp2 others(10): Show |
intron_variant | MODIFIER | c.1530+424_1530+427d others(6): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr1 | 42577633 | |||||
| chr1:42577766
|
A | G | 234 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(231): Show | 235 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(232): Show |
intron_variant | MODIFIER | c.1530+537A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42577766 | ||||||
| chr1:42577787
|
T | C | 313 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(310): Show | 314 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(311): Show |
intron_variant | MODIFIER | c.1530+558T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42577787 | ||||||
| chr1:42577892
|
G | T | 1 | a0001c0001t0007g0165 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.1530+663G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42577892 | ||||||
| chr1:42577893
|
G | T | 1 | a0001c0001t0007g0165 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.1530+664G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42577893 | ||||||
| chr1:42577896
|
T | C | 1 | a0003c0008t0012g0289 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.1530+667T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42577896 | ||||||
| chr1:42577929
|
C | T | 27 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(24): Show | 27 | HG00099.hp1 HG00741.hp2 HG01071.hp2 others(24): Show |
intron_variant | MODIFIER | c.1530+700C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42577929 | ||||||
| chr1:42577974
|
A | C | 15 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0006t0004g0311others(12): Show | 15 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(12): Show |
intron_variant | MODIFIER | c.1530+745A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42577974 | ||||||
| chr1:42578239
|
T | C | 9 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(6): Show | 9 | HG01167.hp2 HG02109.hp2 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.1530+1010T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42578239 | ||||||
| chr1:42578262
|
A | G | 2 | a0001c0005t0008g0202a0001c0005t0008g0203 | 2 | HG03209.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.1530+1033A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42578262 | ||||||
| chr1:42578318
|
A | G | 233 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(230): Show | 234 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(231): Show |
intron_variant | MODIFIER | c.1530+1089A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42578318 | ||||||
| chr1:42578437
|
A | T | 285 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(282): Show | 286 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(283): Show |
intron_variant | MODIFIER | c.1530+1208A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42578437 | ||||||
| chr1:42578493
|
G | T | 104 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(101): Show | 104 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(101): Show |
intron_variant | MODIFIER | c.1530+1264G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42578493 | ||||||
| chr1:42578504
|
G | T | 134 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(131): Show | 134 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(131): Show |
intron_variant | MODIFIER | c.1530+1275G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42578504 | ||||||
| chr1:42578560
|
T | C | 6 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0079others(3): Show | 6 | HG02559.hp1 HG02809.hp1 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.1530+1331T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42578560 | ||||||
| chr1:42578657
|
T | G | 4 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005others(1): Show | 4 | HG02896.hp1 HG03195.hp1 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.1530+1428T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42578657 | ||||||
| chr1:42578737
|
A | G | 1 | a0001c0002t0002g0259 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1530+1508A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42578737 | ||||||
| chr1:42578945
|
G | T | 4 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005others(1): Show | 4 | HG02896.hp1 HG03195.hp1 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.1530+1716G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42578945 | ||||||
| chr1:42579016
|
G | C | 1 | a0001c0001t0001g0197 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.1530+1787G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42579016 | ||||||
| chr1:42579032
|
C | T | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1530+1803C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42579032 | ||||||
| chr1:42579076
|
T | C | 129 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(126): Show | 129 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(126): Show |
intron_variant | MODIFIER | c.1530+1847T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42579076 | ||||||
| chr1:42579225
|
C | T | 1 | a0002c0003t0003g0018 | 1 | NA19001.hp1 | intron_variant | MODIFIER | c.1530+1996C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42579225 | ||||||
| chr1:42579277
|
G | A | 99 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(96): Show | 99 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(96): Show |
intron_variant | MODIFIER | c.1530+2048G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42579277 | ||||||
| chr1:42579390
|
T | C | 7 | a0001c0001t0001g0068a0001c0001t0001g0084a0001c0001t0001g0097others(4): Show | 7 | HG01884.hp2 HG02622.hp2 HG02717.hp2 others(4): Show |
intron_variant | MODIFIER | c.1531-1970T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42579390 | ||||||
| chr1:42579547
|
C | T | 129 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(126): Show | 129 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(126): Show |
intron_variant | MODIFIER | c.1531-1813C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42579547 | ||||||
| chr1:42579559
|
G | A | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1531-1801G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42579559 | ||||||
| chr1:42579626
|
C | T | 9 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(6): Show | 9 | HG01167.hp2 HG02109.hp2 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.1531-1734C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42579626 | ||||||
| chr1:42579640
|
GAGAGAGA others(7): Show |
G | 3 | a0001c0021t0045g0049a0003c0022t0046g0050a0006c0029t0039g0052 | 3 | HG02559.hp2 NA19030.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.1531-1708_1531-169 others(18): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr1 | 42579640 | |||||
| chr1:42579787
|
A | G | 1 | a0001c0002t0044g0257 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1531-1573A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42579787 | ||||||
| chr1:42579862
|
G | A | 27 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(24): Show | 27 | HG00099.hp1 HG00741.hp2 HG01071.hp2 others(24): Show |
intron_variant | MODIFIER | c.1531-1498G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42579862 | ||||||
| chr1:42579875
|
G | A | 1 | a0001c0001t0001g0071 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.1531-1485G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42579875 | ||||||
| chr1:42579936
|
C | G | 45 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(42): Show | 45 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(42): Show |
intron_variant | MODIFIER | c.1531-1424C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42579936 | ||||||
| chr1:42579938
|
C | CA | 96 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(93): Show | 96 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(93): Show |
intron_variant | MODIFIER | c.1531-1410dupA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr1 | 42579938 | |||||
| chr1:42579938
|
C | CAAA | 9 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(6): Show | 9 | HG01167.hp2 HG02109.hp2 HG02886.hp1 others(6): Show |
intron_variant | MODIFIER | c.1531-1412_1531-141 others(7): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr1 | 42579938 | |||||
| chr1:42579938
|
C | CAAAA | 17 | a0001c0005t0008g0203a0001c0005t0036g0309a0001c0006t0004g0311others(14): Show | 17 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(14): Show |
intron_variant | MODIFIER | c.1531-1413_1531-141 others(8): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr1 | 42579938 | |||||
| chr1:42579951
|
C | A | 234 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(231): Show | 235 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(232): Show |
intron_variant | MODIFIER | c.1531-1409C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42579951 | ||||||
| chr1:42580086
|
T | C | 204 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(201): Show | 205 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(202): Show |
intron_variant | MODIFIER | c.1531-1274T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42580086 | ||||||
| chr1:42580157
|
T | C | 1 | a0001c0005t0036g0309 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1531-1203T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42580157 | ||||||
| chr1:42580291
|
ATCT | A | 5 | a0001c0007t0005g0313a0001c0007t0005g0315a0001c0007t0005g0316others(2): Show | 5 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(2): Show |
intron_variant | MODIFIER | c.1531-1062_1531-106 others(7): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr1 | 42580291 | |||||
| chr1:42580325
|
G | A | 7 | a0001c0001t0001g0065a0001c0001t0001g0066a0001c0001t0001g0086others(4): Show | 7 | HG00639.hp2 HG02257.hp2 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.1531-1035G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42580325 | ||||||
| chr1:42580379
|
CG | C | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1531-978delG | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr1 | 42580379 | |||||
| chr1:42580621
|
G | T | 230 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(227): Show | 231 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(228): Show |
intron_variant | MODIFIER | c.1531-739G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42580621 | ||||||
| chr1:42580796
|
G | T | 2 | a0001c0004t0022g0059a0001c0004t0022g0060 | 2 | HG02615.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.1531-564G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42580796 | ||||||
| chr1:42580850
|
C | T | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1531-510C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42580850 | ||||||
| chr1:42580881
|
A | G | 2 | a0001c0021t0045g0049a0003c0022t0046g0050 | 2 | HG02559.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.1531-479A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42580881 | ||||||
| chr1:42580928
|
G | A | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1531-432G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42580928 | ||||||
| chr1:42580996
|
G | A | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1531-364G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42580996 | ||||||
| chr1:42581002
|
C | T | 2 | a0001c0021t0045g0049a0003c0022t0046g0050 | 2 | HG02559.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.1531-358C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42581002 | ||||||
| chr1:42581038
|
C | A | 26 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(23): Show | 26 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(23): Show |
intron_variant | MODIFIER | c.1531-322C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42581038 | ||||||
| chr1:42581045
|
G | T | 45 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(42): Show | 45 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(42): Show |
intron_variant | MODIFIER | c.1531-315G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42581045 | ||||||
| chr1:42581252
|
A | T | 1 | a0001c0001t0010g0106 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.1531-108A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 12/20 | chr1 | 42581252 | ||||||
| chr1:42581560
|
T | C | 3 | a0001c0021t0045g0049a0003c0022t0046g0050a0006c0029t0039g0052 | 3 | HG02559.hp2 NA19030.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.1685+46T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42581560 | ||||||
| chr1:42581735
|
G | A | 1 | a0001c0001t0001g0085 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.1685+221G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42581735 | ||||||
| chr1:42581854
|
A | T | 1 | a0001c0001t0006g0193 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.1685+340A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42581854 | ||||||
| chr1:42581954
|
G | T | 6 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(3): Show | 6 | HG01891.hp2 HG02970.hp2 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.1685+440G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42581954 | ||||||
| chr1:42582039
|
T | G | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1685+525T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42582039 | ||||||
| chr1:42582059
|
C | CA | 63 | a0001c0001t0001g0065a0001c0001t0001g0066a0001c0001t0001g0077others(60): Show | 63 | HG00323.hp2 HG00609.hp2 HG00738.hp1 others(60): Show |
intron_variant | MODIFIER | c.1685+566dupA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr1 | 42582059 | |||||
| chr1:42582059
|
C | CAA | 6 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(3): Show | 6 | HG00733.hp2 HG01891.hp2 HG02280.hp1 others(3): Show |
intron_variant | MODIFIER | c.1685+565_1685+566d others(4): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr1 | 42582059 | |||||
| chr1:42582059
|
CA | C | 13 | a0001c0001t0007g0165a0001c0002t0002g0205a0001c0002t0002g0207others(10): Show | 13 | HG00544.hp2 HG01167.hp2 HG02109.hp2 others(10): Show |
intron_variant | MODIFIER | c.1685+566delA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr1 | 42582059 | |||||
| chr1:42582059
|
CAAA | C | 15 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0006t0004g0311others(12): Show | 15 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(12): Show |
intron_variant | MODIFIER | c.1685+564_1685+566d others(5): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr1 | 42582059 | |||||
| chr1:42582081
|
T | A | 1 | a0004c0011t0009g0004 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1685+567T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42582081 | ||||||
| chr1:42582145
|
A | G | 1 | a0001c0001t0019g0167 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.1685+631A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42582145 | ||||||
| chr1:42582209
|
G | A | 1 | a0001c0001t0001g0133 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.1685+695G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42582209 | ||||||
| chr1:42582275
|
C | T | 125 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(122): Show | 125 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(122): Show |
intron_variant | MODIFIER | c.1685+761C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42582275 | ||||||
| chr1:42582465
|
G | A | 2 | a0001c0001t0024g0145a0001c0001t0027g0094 | 2 | HG02602.hp1 HG03704.hp2 |
intron_variant | MODIFIER | c.1685+951G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42582465 | ||||||
| chr1:42582498
|
A | G | 105 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(102): Show | 106 | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(103): Show |
intron_variant | MODIFIER | c.1685+984A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42582498 | ||||||
| chr1:42582616
|
A | G | 1 | a0001c0001t0001g0140 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.1685+1102A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42582616 | ||||||
| chr1:42582714
|
G | A | 9 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(6): Show | 9 | HG01167.hp2 HG02109.hp2 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.1685+1200G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42582714 | ||||||
| chr1:42582882
|
A | G | 2 | a0001c0001t0011g0172a0001c0001t0013g0170 | 2 | HG03704.hp1 HG04184.hp2 |
intron_variant | MODIFIER | c.1685+1368A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42582882 | ||||||
| chr1:42582897
|
C | T | 6 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(3): Show | 6 | HG01891.hp2 HG02970.hp2 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.1685+1383C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42582897 | ||||||
| chr1:42582919
|
G | T | 2 | a0001c0002t0002g0213a0001c0004t0015g0210 | 2 | HG02698.hp2 HG03927.hp2 |
intron_variant | MODIFIER | c.1685+1405G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42582919 | ||||||
| chr1:42583087
|
A | T | 98 | a0001c0001t0001g0001a0001c0001t0001g0068a0001c0001t0001g0069others(95): Show | 99 | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(96): Show |
intron_variant | MODIFIER | c.1685+1573A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42583087 | ||||||
| chr1:42583110
|
G | A | 230 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(227): Show | 231 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(228): Show |
intron_variant | MODIFIER | c.1685+1596G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42583110 | ||||||
| chr1:42583166
|
A | G | 2 | a0001c0021t0045g0049a0003c0022t0046g0050 | 2 | HG02559.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.1685+1652A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42583166 | ||||||
| chr1:42583712
|
C | G | 2 | a0002c0003t0003g0026a0002c0003t0014g0038 | 2 | HG01928.hp2 HG02148.hp2 |
intron_variant | MODIFIER | c.1685+2198C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42583712 | ||||||
| chr1:42583823
|
T | C | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1685+2309T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42583823 | ||||||
| chr1:42583924
|
G | A | 26 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(23): Show | 26 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(23): Show |
intron_variant | MODIFIER | c.1685+2410G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42583924 | ||||||
| chr1:42584007
|
G | A | 96 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(93): Show | 96 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(93): Show |
intron_variant | MODIFIER | c.1685+2493G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42584007 | ||||||
| chr1:42584048
|
C | T | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1685+2534C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42584048 | ||||||
| chr1:42584215
|
A | C | 204 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(201): Show | 205 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(202): Show |
intron_variant | MODIFIER | c.1685+2701A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42584215 | ||||||
| chr1:42584232
|
A | G | 105 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(102): Show | 106 | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(103): Show |
intron_variant | MODIFIER | c.1685+2718A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42584232 | ||||||
| chr1:42584291
|
C | T | 313 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(310): Show | 314 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(311): Show |
intron_variant | MODIFIER | c.1685+2777C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42584291 | ||||||
| chr1:42584383
|
A | G | 230 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(227): Show | 231 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(228): Show |
intron_variant | MODIFIER | c.1685+2869A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42584383 | ||||||
| chr1:42584467
|
A | G | 1 | a0001c0001t0010g0105 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.1685+2953A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42584467 | ||||||
| chr1:42584507
|
T | G | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1685+2993T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42584507 | ||||||
| chr1:42584523
|
G | A | 9 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(6): Show | 9 | HG01167.hp2 HG02109.hp2 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.1685+3009G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42584523 | ||||||
| chr1:42584543
|
A | G | 1 | a0002c0003t0016g0021 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.1685+3029A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42584543 | ||||||
| chr1:42584547
|
G | T | 230 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(227): Show | 231 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(228): Show |
intron_variant | MODIFIER | c.1685+3033G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42584547 | ||||||
| chr1:42584557
|
C | T | 3 | a0001c0001t0001g0091a0001c0001t0007g0093a0001c0001t0011g0092 | 3 | HG01106.hp2 HG01433.hp1 HG03927.hp1 |
intron_variant | MODIFIER | c.1685+3043C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42584557 | ||||||
| chr1:42584578
|
G | A | 230 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(227): Show | 231 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(228): Show |
intron_variant | MODIFIER | c.1685+3064G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42584578 | ||||||
| chr1:42584605
|
C | CA | 230 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(227): Show | 231 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(228): Show |
intron_variant | MODIFIER | c.1685+3099dupA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr1 | 42584605 | |||||
| chr1:42584725
|
G | A | 230 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(227): Show | 231 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(228): Show |
intron_variant | MODIFIER | c.1685+3211G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42584725 | ||||||
| chr1:42584959
|
G | T | 45 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(42): Show | 45 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(42): Show |
intron_variant | MODIFIER | c.1685+3445G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42584959 | ||||||
| chr1:42584965
|
G | A | 26 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(23): Show | 26 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(23): Show |
intron_variant | MODIFIER | c.1685+3451G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42584965 | ||||||
| chr1:42585095
|
A | G | 1 | a0001c0001t0001g0137 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.1685+3581A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42585095 | ||||||
| chr1:42585148
|
A | G | 96 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(93): Show | 96 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(93): Show |
intron_variant | MODIFIER | c.1685+3634A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42585148 | ||||||
| chr1:42585193
|
C | T | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1685+3679C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42585193 | ||||||
| chr1:42585292
|
T | G | 313 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(310): Show | 314 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(311): Show |
intron_variant | MODIFIER | c.1685+3778T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42585292 | ||||||
| chr1:42585671
|
A | G | 26 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(23): Show | 26 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(23): Show |
intron_variant | MODIFIER | c.1686-3650A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42585671 | ||||||
| chr1:42585926
|
ATACT | A | 96 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(93): Show | 96 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(93): Show |
intron_variant | MODIFIER | c.1686-3391_1686-338 others(8): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr1 | 42585926 | |||||
| chr1:42586073
|
G | A | 99 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(96): Show | 99 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(96): Show |
intron_variant | MODIFIER | c.1686-3248G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42586073 | ||||||
| chr1:42586161
|
A | C | 26 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(23): Show | 26 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(23): Show |
intron_variant | MODIFIER | c.1686-3160A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42586161 | ||||||
| chr1:42586295
|
TTTTG | T | 6 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(3): Show | 6 | HG01891.hp2 HG02970.hp2 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.1686-3011_1686-300 others(8): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr1 | 42586295 | |||||
| chr1:42586480
|
A | G | 1 | a0002c0003t0003g0014 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.1686-2841A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42586480 | ||||||
| chr1:42586496
|
G | A | 1 | a0001c0004t0004g0261 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.1686-2825G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42586496 | ||||||
| chr1:42586515
|
G | A | 204 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(201): Show | 205 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(202): Show |
intron_variant | MODIFIER | c.1686-2806G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42586515 | ||||||
| chr1:42586578
|
G | A | 204 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(201): Show | 205 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(202): Show |
intron_variant | MODIFIER | c.1686-2743G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42586578 | ||||||
| chr1:42586613
|
T | C | 230 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(227): Show | 231 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(228): Show |
intron_variant | MODIFIER | c.1686-2708T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42586613 | ||||||
| chr1:42586800
|
T | G | 44 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(41): Show | 44 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(41): Show |
intron_variant | MODIFIER | c.1686-2521T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42586800 | ||||||
| chr1:42586956
|
G | A | 3 | a0001c0001t0006g0171a0001c0001t0006g0173a0001c0001t0027g0094 | 3 | HG01109.hp1 HG01361.hp2 HG03704.hp2 |
intron_variant | MODIFIER | c.1686-2365G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42586956 | ||||||
| chr1:42586992
|
G | A | 230 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(227): Show | 231 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(228): Show |
intron_variant | MODIFIER | c.1686-2329G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42586992 | ||||||
| chr1:42587048
|
A | G | 1 | a0001c0002t0002g0264 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.1686-2273A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42587048 | ||||||
| chr1:42587185
|
T | C | 230 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(227): Show | 231 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(228): Show |
intron_variant | MODIFIER | c.1686-2136T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42587185 | ||||||
| chr1:42587249
|
G | A | 1 | a0001c0001t0019g0167 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.1686-2072G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42587249 | ||||||
| chr1:42587456
|
G | T | 1 | a0001c0001t0001g0071 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.1686-1865G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42587456 | ||||||
| chr1:42587660
|
A | G | 1 | a0002c0003t0009g0007 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1686-1661A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42587660 | ||||||
| chr1:42587696
|
G | T | 313 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(310): Show | 314 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(311): Show |
intron_variant | MODIFIER | c.1686-1625G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42587696 | ||||||
| chr1:42587931
|
A | T | 2 | a0001c0001t0006g0187a0001c0001t0006g0192 | 2 | HG01934.hp1 HG02300.hp2 |
intron_variant | MODIFIER | c.1686-1390A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42587931 | ||||||
| chr1:42587960
|
G | T | 2 | a0001c0004t0003g0291a0001c0004t0009g0292 | 2 | HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.1686-1361G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42587960 | ||||||
| chr1:42588240
|
G | A | 230 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(227): Show | 231 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(228): Show |
intron_variant | MODIFIER | c.1686-1081G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42588240 | ||||||
| chr1:42588278
|
A | G | 2 | a0001c0001t0001g0065a0001c0001t0001g0066 | 2 | HG02257.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1686-1043A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42588278 | ||||||
| chr1:42588302
|
G | A | 2 | a0002c0003t0003g0048a0007c0028t0003g0047 | 2 | HG02818.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.1686-1019G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42588302 | ||||||
| chr1:42588311
|
A | G | 1 | a0002c0003t0009g0007 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1686-1010A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42588311 | ||||||
| chr1:42588316
|
C | A | 1 | a0002c0003t0003g0014 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.1686-1005C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42588316 | ||||||
| chr1:42588522
|
A | C | 92 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(89): Show | 92 | HG00099.hp1 HG00323.hp2 HG00609.hp2 others(89): Show |
intron_variant | MODIFIER | c.1686-799A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42588522 | ||||||
| chr1:42588588
|
A | T | 32 | a0001c0001t0001g0082a0001c0001t0001g0085a0001c0001t0001g0091others(29): Show | 32 | HG00280.hp2 HG00558.hp2 HG01074.hp2 others(29): Show |
intron_variant | MODIFIER | c.1686-733A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42588588 | ||||||
| chr1:42589223
|
CA | C | 70 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(67): Show | 70 | HG00099.hp1 HG00741.hp2 HG01071.hp2 others(67): Show |
intron_variant | MODIFIER | c.1686-84delA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr1 | 42589223 | |||||
| chr1:42589223
|
CAA | C | 47 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(44): Show | 47 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(44): Show |
intron_variant | MODIFIER | c.1686-85_1686-84del others(2): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr1 | 42589223 | |||||
| chr1:42589238
|
T | C | 96 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(93): Show | 96 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(93): Show |
intron_variant | MODIFIER | c.1686-83T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 13/20 | chr1 | 42589238 | ||||||
| chr1:42589572
|
C | A | 6 | a0001c0007t0005g0313a0001c0007t0005g0315a0001c0007t0005g0316others(3): Show | 6 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(3): Show |
intron_variant | MODIFIER | c.1848+89C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42589572 | ||||||
| chr1:42589572
|
C | G | 218 | a0001c0001t0001g0065a0001c0001t0001g0066a0001c0001t0001g0072others(215): Show | 218 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(215): Show |
intron_variant | MODIFIER | c.1848+89C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42589572 | ||||||
| chr1:42589679
|
G | C | 1 | a0001c0005t0036g0309 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1848+196G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42589679 | ||||||
| chr1:42589908
|
G | A | 1 | a0001c0009t0017g0055 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.1848+425G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42589908 | ||||||
| chr1:42590081
|
C | T | 125 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(122): Show | 125 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(122): Show |
intron_variant | MODIFIER | c.1848+598C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42590081 | ||||||
| chr1:42590091
|
A | C | 26 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(23): Show | 26 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(23): Show |
intron_variant | MODIFIER | c.1848+608A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42590091 | ||||||
| chr1:42590117
|
C | T | 1 | a0001c0002t0002g0226 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.1848+634C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42590117 | ||||||
| chr1:42590131
|
C | G | 2 | a0001c0002t0002g0248a0001c0002t0021g0249 | 2 | NA18949.hp2 NA18971.hp2 |
intron_variant | MODIFIER | c.1848+648C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42590131 | ||||||
| chr1:42590142
|
C | T | 27 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(24): Show | 27 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(24): Show |
intron_variant | MODIFIER | c.1848+659C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42590142 | ||||||
| chr1:42590149
|
C | T | 2 | a0001c0021t0045g0049a0003c0022t0046g0050 | 2 | HG02559.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.1848+666C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42590149 | ||||||
| chr1:42590150
|
A | G | 1 | a0001c0001t0001g0198 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1848+667A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42590150 | ||||||
| chr1:42590198
|
C | A | 26 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(23): Show | 26 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(23): Show |
intron_variant | MODIFIER | c.1848+715C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42590198 | ||||||
| chr1:42590223
|
C | T | 92 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(89): Show | 92 | HG00099.hp1 HG00323.hp2 HG00609.hp2 others(89): Show |
intron_variant | MODIFIER | c.1848+740C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42590223 | ||||||
| chr1:42590228
|
C | T | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1848+745C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42590228 | ||||||
| chr1:42590362
|
C | T | 1 | a0002c0003t0009g0007 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1848+879C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42590362 | ||||||
| chr1:42590387
|
T | C | 27 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(24): Show | 27 | HG00099.hp1 HG00741.hp2 HG01071.hp2 others(24): Show |
intron_variant | MODIFIER | c.1848+904T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42590387 | ||||||
| chr1:42590398
|
G | C | 217 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(214): Show | 217 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(214): Show |
intron_variant | MODIFIER | c.1848+915G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42590398 | ||||||
| chr1:42590539
|
A | G | 99 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(96): Show | 99 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(96): Show |
intron_variant | MODIFIER | c.1848+1056A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42590539 | ||||||
| chr1:42590553
|
C | A | 45 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(42): Show | 45 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(42): Show |
intron_variant | MODIFIER | c.1848+1070C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42590553 | ||||||
| chr1:42590558
|
T | G | 6 | a0001c0001t0006g0177a0001c0001t0006g0180a0001c0001t0006g0186others(3): Show | 6 | HG01099.hp1 HG01934.hp1 HG01975.hp1 others(3): Show |
intron_variant | MODIFIER | c.1848+1075T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42590558 | ||||||
| chr1:42590633
|
A | G | 2 | a0001c0021t0045g0049a0003c0022t0046g0050 | 2 | HG02559.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.1848+1150A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42590633 | ||||||
| chr1:42590656
|
G | C | 2 | a0001c0006t0004g0311a0001c0006t0015g0312 | 2 | HG02965.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1848+1173G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42590656 | ||||||
| chr1:42590723
|
G | A | 1 | a0003c0015t0041g0308 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.1848+1240G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42590723 | ||||||
| chr1:42590735
|
C | T | 1 | a0001c0009t0047g0058 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.1848+1252C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42590735 | ||||||
| chr1:42590765
|
C | A | 1 | a0001c0001t0001g0091 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.1848+1282C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42590765 | ||||||
| chr1:42590855
|
A | G | 125 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(122): Show | 125 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(122): Show |
intron_variant | MODIFIER | c.1848+1372A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42590855 | ||||||
| chr1:42590898
|
C | G | 1 | a0001c0001t0001g0139 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.1848+1415C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42590898 | ||||||
| chr1:42591278
|
G | A | 1 | a0002c0003t0003g0016 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.1848+1795G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42591278 | ||||||
| chr1:42591435
|
G | A | 6 | a0001c0004t0004g0236a0001c0004t0004g0280a0001c0004t0004g0282others(3): Show | 6 | HG00673.hp1 HG02129.hp2 NA19002.hp2 others(3): Show |
intron_variant | MODIFIER | c.1848+1952G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42591435 | ||||||
| chr1:42591539
|
A | C | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1848+2056A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42591539 | ||||||
| chr1:42591560
|
A | G | 125 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(122): Show | 125 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(122): Show |
intron_variant | MODIFIER | c.1848+2077A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42591560 | ||||||
| chr1:42591606
|
C | A | 2 | a0001c0004t0003g0291a0001c0004t0009g0292 | 2 | HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.1848+2123C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42591606 | ||||||
| chr1:42591757
|
T | C | 5 | a0001c0006t0005g0320a0001c0006t0008g0314a0001c0006t0008g0318others(2): Show | 5 | HG02145.hp1 HG02717.hp1 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.1848+2274T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42591757 | ||||||
| chr1:42591799
|
C | A | 60 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(57): Show | 60 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(57): Show |
intron_variant | MODIFIER | c.1848+2316C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42591799 | ||||||
| chr1:42591806
|
A | T | 1 | a0004c0011t0009g0005 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.1848+2323A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42591806 | ||||||
| chr1:42591921
|
T | C | 6 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(3): Show | 6 | HG01891.hp2 HG02970.hp2 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.1848+2438T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42591921 | ||||||
| chr1:42592105
|
G | A | 5 | a0001c0006t0005g0320a0001c0006t0008g0314a0001c0006t0008g0318others(2): Show | 5 | HG02145.hp1 HG02717.hp1 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.1848+2622G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42592105 | ||||||
| chr1:42592106
|
A | G | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1848+2623A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42592106 | ||||||
| chr1:42592229
|
T | C | 1 | a0001c0001t0001g0198 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1848+2746T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42592229 | ||||||
| chr1:42592247
|
G | A | 42 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(39): Show | 42 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(39): Show |
intron_variant | MODIFIER | c.1848+2764G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42592247 | ||||||
| chr1:42592351
|
A | G | 7 | a0001c0001t0001g0137a0001c0001t0018g0095a0001c0010t0004g0275others(4): Show | 7 | HG01074.hp2 HG02015.hp2 HG03654.hp2 others(4): Show |
intron_variant | MODIFIER | c.1848+2868A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42592351 | ||||||
| chr1:42592423
|
G | A | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1848+2940G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42592423 | ||||||
| chr1:42592453
|
C | T | 3 | a0001c0002t0002g0208a0001c0002t0002g0224a0009c0023t0002g0223 | 3 | HG00099.hp2 HG00280.hp1 HG01981.hp2 |
intron_variant | MODIFIER | c.1848+2970C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42592453 | ||||||
| chr1:42592454
|
G | A | 4 | a0001c0002t0002g0230a0001c0002t0002g0235a0001c0002t0002g0254others(1): Show | 4 | NA18941.hp2 NA18954.hp2 NA19001.hp2 others(1): Show |
intron_variant | MODIFIER | c.1848+2971G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42592454 | ||||||
| chr1:42592475
|
A | C | 1 | a0001c0021t0045g0049 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1848+2992A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42592475 | ||||||
| chr1:42592475
|
A | G | 216 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(213): Show | 216 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(213): Show |
intron_variant | MODIFIER | c.1848+2992A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42592475 | ||||||
| chr1:42592573
|
T | C | 1 | a0002c0003t0003g0053 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1848+3090T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42592573 | ||||||
| chr1:42592611
|
G | A | 8 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(5): Show | 8 | HG01167.hp2 HG02109.hp2 HG02886.hp1 others(5): Show |
intron_variant | MODIFIER | c.1848+3128G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42592611 | ||||||
| chr1:42592670
|
C | T | 26 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(23): Show | 26 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(23): Show |
intron_variant | MODIFIER | c.1848+3187C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42592670 | ||||||
| chr1:42592705
|
C | T | 1 | a0001c0005t0008g0203 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1848+3222C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42592705 | ||||||
| chr1:42592741
|
A | T | 1 | a0001c0004t0009g0214 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.1848+3258A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42592741 | ||||||
| chr1:42592760
|
A | G | 1 | a0001c0001t0001g0198 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1848+3277A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42592760 | ||||||
| chr1:42592821
|
A | G | 99 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(96): Show | 99 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(96): Show |
intron_variant | MODIFIER | c.1848+3338A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42592821 | ||||||
| chr1:42592880
|
C | A | 1 | a0001c0001t0006g0143 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1848+3397C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42592880 | ||||||
| chr1:42592885
|
C | T | 1 | a0002c0003t0034g0015 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.1848+3402C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42592885 | ||||||
| chr1:42593012
|
G | A | 6 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(3): Show | 6 | HG01891.hp2 HG02970.hp2 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.1848+3529G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42593012 | ||||||
| chr1:42593507
|
G | A | 1 | a0001c0004t0004g0261 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.1848+4024G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42593507 | ||||||
| chr1:42593547
|
T | C | 26 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(23): Show | 26 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(23): Show |
intron_variant | MODIFIER | c.1848+4064T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42593547 | ||||||
| chr1:42593739
|
C | T | 1 | a0006c0029t0039g0052 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1848+4256C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42593739 | ||||||
| chr1:42593777
|
A | G | 1 | a0001c0001t0001g0135 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1848+4294A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42593777 | ||||||
| chr1:42593858
|
G | C | 2 | a0001c0005t0008g0202a0001c0005t0008g0203 | 2 | HG03209.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.1848+4375G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42593858 | ||||||
| chr1:42593884
|
G | C | 1 | a0001c0001t0001g0175 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.1848+4401G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42593884 | ||||||
| chr1:42593919
|
G | A | 4 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(1): Show | 4 | HG01891.hp2 HG02970.hp2 NA18522.hp2 others(1): Show |
intron_variant | MODIFIER | c.1848+4436G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42593919 | ||||||
| chr1:42593993
|
C | G | 27 | a0001c0002t0044g0257a0001c0004t0004g0199a0001c0004t0004g0200others(24): Show | 27 | HG00438.hp1 HG00673.hp1 HG01069.hp2 others(24): Show |
intron_variant | MODIFIER | c.1848+4510C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42593993 | ||||||
| chr1:42593993
|
C | T | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1848+4510C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42593993 | ||||||
| chr1:42594039
|
A | G | 26 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(23): Show | 26 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(23): Show |
intron_variant | MODIFIER | c.1848+4556A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42594039 | ||||||
| chr1:42594047
|
AT | A | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1848+4565delT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42594047 | ||||||
| chr1:42594131
|
CCAAT | C | 6 | a0001c0007t0005g0313a0001c0007t0005g0315a0001c0007t0005g0316others(3): Show | 6 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(3): Show |
intron_variant | MODIFIER | c.1848+4651_1848+465 others(8): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr1 | 42594131 | |||||
| chr1:42594253
|
G | A | 129 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(126): Show | 129 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(126): Show |
intron_variant | MODIFIER | c.1848+4770G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42594253 | ||||||
| chr1:42594262
|
G | A | 27 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(24): Show | 27 | HG00099.hp1 HG00741.hp2 HG01071.hp2 others(24): Show |
intron_variant | MODIFIER | c.1848+4779G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42594262 | ||||||
| chr1:42594834
|
T | G | 1 | a0002c0003t0009g0007 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1848+5351T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42594834 | ||||||
| chr1:42594844
|
C | T | 96 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(93): Show | 96 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(93): Show |
intron_variant | MODIFIER | c.1848+5361C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42594844 | ||||||
| chr1:42595018
|
G | GT | 95 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(92): Show | 95 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(92): Show |
intron_variant | MODIFIER | c.1848+5546dupT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr1 | 42595018 | |||||
| chr1:42595018
|
GT | G | 26 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(23): Show | 26 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(23): Show |
intron_variant | MODIFIER | c.1848+5546delT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr1 | 42595018 | |||||
| chr1:42595060
|
C | T | 1 | a0001c0001t0001g0140 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.1848+5577C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42595060 | ||||||
| chr1:42595065
|
G | C | 2 | a0001c0001t0006g0189a0001c0001t0006g0190 | 2 | HG00099.hp1 HG01993.hp2 |
intron_variant | MODIFIER | c.1848+5582G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42595065 | ||||||
| chr1:42595212
|
G | C | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1848+5729G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42595212 | ||||||
| chr1:42595239
|
C | T | 1 | a0002c0003t0003g0019 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.1848+5756C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42595239 | ||||||
| chr1:42595317
|
C | T | 1 | a0001c0001t0001g0122 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.1848+5834C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42595317 | ||||||
| chr1:42595392
|
C | A | 3 | a0001c0021t0045g0049a0003c0022t0046g0050a0006c0029t0039g0052 | 3 | HG02559.hp2 NA19030.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.1848+5909C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42595392 | ||||||
| chr1:42595430
|
C | T | 1 | a0001c0001t0006g0182 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.1848+5947C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42595430 | ||||||
| chr1:42595468
|
G | A | 1 | a0001c0002t0002g0250 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.1848+5985G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42595468 | ||||||
| chr1:42595483
|
G | T | 86 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(83): Show | 86 | HG00099.hp1 HG00323.hp2 HG00609.hp2 others(83): Show |
intron_variant | MODIFIER | c.1848+6000G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42595483 | ||||||
| chr1:42595781
|
A | G | 1 | a0001c0002t0002g0240 | 1 | NA18980.hp1 | intron_variant | MODIFIER | c.1848+6298A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42595781 | ||||||
| chr1:42595874
|
G | A | 1 | a0003c0008t0012g0289 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.1848+6391G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42595874 | ||||||
| chr1:42596235
|
G | C | 1 | a0001c0004t0004g0267 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.1848+6752G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42596235 | ||||||
| chr1:42596312
|
C | T | 1 | a0001c0001t0027g0094 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.1848+6829C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42596312 | ||||||
| chr1:42596397
|
G | A | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1848+6914G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42596397 | ||||||
| chr1:42596493
|
T | C | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1848+7010T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42596493 | ||||||
| chr1:42596699
|
G | A | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1848+7216G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42596699 | ||||||
| chr1:42596738
|
A | C | 3 | a0001c0001t0001g0065a0001c0001t0001g0066a0003c0014t0028g0067 | 3 | HG00639.hp2 HG02257.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1848+7255A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42596738 | ||||||
| chr1:42596741
|
A | C | 9 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(6): Show | 9 | HG01167.hp2 HG02109.hp2 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.1848+7258A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42596741 | ||||||
| chr1:42596753
|
AC | A | 4 | a0001c0001t0006g0171a0001c0001t0006g0173a0001c0001t0011g0172others(1): Show | 4 | HG01109.hp1 HG01361.hp2 HG03704.hp1 others(1): Show |
intron_variant | MODIFIER | c.1848+7271delC | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42596753 | ||||||
| chr1:42596754
|
C | A | 1 | a0006c0029t0039g0052 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1848+7271C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42596754 | ||||||
| chr1:42596757
|
AC | A | 208 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(205): Show | 208 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(205): Show |
intron_variant | MODIFIER | c.1848+7275delC | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42596757 | ||||||
| chr1:42596758
|
C | A | 5 | a0001c0001t0006g0171a0001c0001t0006g0173a0001c0001t0011g0172others(2): Show | 5 | HG01109.hp1 HG01361.hp2 HG03704.hp1 others(2): Show |
intron_variant | MODIFIER | c.1848+7275C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42596758 | ||||||
| chr1:42596932
|
A | C | 6 | a0001c0007t0005g0313a0001c0007t0005g0315a0001c0007t0005g0316others(3): Show | 6 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(3): Show |
intron_variant | MODIFIER | c.1848+7449A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42596932 | ||||||
| chr1:42596939
|
G | A | 1 | a0002c0003t0014g0009 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1848+7456G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42596939 | ||||||
| chr1:42597061
|
G | A | 96 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(93): Show | 96 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(93): Show |
intron_variant | MODIFIER | c.1848+7578G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42597061 | ||||||
| chr1:42597061
|
G | GC | 90 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(87): Show | 90 | HG00099.hp1 HG00323.hp2 HG00609.hp2 others(87): Show |
intron_variant | MODIFIER | c.1848+7579dupC | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr1 | 42597061 | |||||
| chr1:42597532
|
G | A | 3 | a0002c0003t0003g0017a0002c0003t0003g0018a0002c0003t0003g0019 | 3 | NA18966.hp2 NA18972.hp1 NA19001.hp1 |
intron_variant | MODIFIER | c.1848+8049G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42597532 | ||||||
| chr1:42597566
|
T | C | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1848+8083T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42597566 | ||||||
| chr1:42597580
|
C | T | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1848+8097C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42597580 | ||||||
| chr1:42597605
|
G | A | 5 | a0001c0006t0005g0320a0001c0006t0008g0314a0001c0006t0008g0318others(2): Show | 5 | HG02145.hp1 HG02717.hp1 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.1848+8122G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42597605 | ||||||
| chr1:42597632
|
C | CA | 92 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(89): Show | 92 | HG00099.hp1 HG00323.hp2 HG00609.hp2 others(89): Show |
intron_variant | MODIFIER | c.1848+8160dupA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr1 | 42597632 | |||||
| chr1:42597649
|
T | G | 10 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(7): Show | 10 | HG01167.hp2 HG02109.hp2 HG02572.hp2 others(7): Show |
intron_variant | MODIFIER | c.1848+8166T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42597649 | ||||||
| chr1:42597804
|
G | A | 2 | a0001c0021t0045g0049a0003c0022t0046g0050 | 2 | HG02559.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.1848+8321G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42597804 | ||||||
| chr1:42597822
|
G | A | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1848+8339G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42597822 | ||||||
| chr1:42597844
|
G | A | 3 | a0001c0006t0005g0320a0001c0006t0008g0318a0001c0006t0008g0321 | 3 | HG02145.hp1 HG02717.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.1848+8361G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42597844 | ||||||
| chr1:42597864
|
T | TA | 10 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(7): Show | 10 | HG01167.hp2 HG02109.hp2 HG02572.hp2 others(7): Show |
intron_variant | MODIFIER | c.1848+8391dupA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr1 | 42597864 | |||||
| chr1:42597890
|
G | A | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1848+8407G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42597890 | ||||||
| chr1:42597926
|
G | A | 2 | a0001c0001t0006g0186a0001c0001t0006g0193 | 2 | HG01099.hp1 HG01975.hp1 |
intron_variant | MODIFIER | c.1848+8443G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42597926 | ||||||
| chr1:42598189
|
A | C | 27 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(24): Show | 27 | HG00099.hp1 HG00741.hp2 HG01071.hp2 others(24): Show |
intron_variant | MODIFIER | c.1848+8706A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42598189 | ||||||
| chr1:42598439
|
G | A | 1 | a0002c0003t0014g0009 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1848+8956G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42598439 | ||||||
| chr1:42598694
|
G | A | 91 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(88): Show | 91 | HG00099.hp1 HG00323.hp2 HG00609.hp2 others(88): Show |
intron_variant | MODIFIER | c.1848+9211G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42598694 | ||||||
| chr1:42598840
|
C | T | 91 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(88): Show | 91 | HG00099.hp1 HG00323.hp2 HG00609.hp2 others(88): Show |
intron_variant | MODIFIER | c.1848+9357C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42598840 | ||||||
| chr1:42598898
|
A | G | 15 | a0001c0006t0004g0311a0001c0006t0005g0320a0001c0006t0008g0314others(12): Show | 15 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(12): Show |
intron_variant | MODIFIER | c.1848+9415A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42598898 | ||||||
| chr1:42599274
|
G | C | 60 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(57): Show | 60 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(57): Show |
intron_variant | MODIFIER | c.1848+9791G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42599274 | ||||||
| chr1:42599312
|
T | C | 233 | a0001c0001t0001g0065a0001c0001t0001g0066a0001c0001t0001g0068others(230): Show | 233 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(230): Show |
intron_variant | MODIFIER | c.1848+9829T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42599312 | ||||||
| chr1:42599436
|
C | T | 215 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(212): Show | 215 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(212): Show |
intron_variant | MODIFIER | c.1848+9953C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42599436 | ||||||
| chr1:42599531
|
T | C | 96 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(93): Show | 96 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(93): Show |
intron_variant | MODIFIER | c.1848+10048T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42599531 | ||||||
| chr1:42599841
|
G | A | 17 | a0001c0004t0004g0236a0001c0004t0004g0269a0001c0004t0004g0270others(14): Show | 17 | HG00438.hp1 HG00673.hp1 HG02074.hp2 others(14): Show |
intron_variant | MODIFIER | c.1848+10358G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42599841 | ||||||
| chr1:42599899
|
G | C | 3 | a0001c0004t0004g0199a0001c0004t0004g0200a0001c0004t0015g0201 | 3 | HG01069.hp2 HG02145.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.1848+10416G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42599899 | ||||||
| chr1:42599959
|
A | G | 1 | a0001c0001t0006g0171 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.1848+10476A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42599959 | ||||||
| chr1:42600008
|
G | A | 91 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(88): Show | 91 | HG00099.hp1 HG00323.hp2 HG00609.hp2 others(88): Show |
intron_variant | MODIFIER | c.1848+10525G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42600008 | ||||||
| chr1:42600168
|
C | G | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1848+10685C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42600168 | ||||||
| chr1:42600285
|
C | G | 1 | a0006c0029t0039g0052 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1849-10693C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42600285 | ||||||
| chr1:42600480
|
A | G | 28 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(25): Show | 28 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(25): Show |
intron_variant | MODIFIER | c.1849-10498A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42600480 | ||||||
| chr1:42600638
|
C | A | 27 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(24): Show | 27 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(24): Show |
intron_variant | MODIFIER | c.1849-10340C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42600638 | ||||||
| chr1:42600657
|
G | A | 1 | a0003c0014t0029g0064 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.1849-10321G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42600657 | ||||||
| chr1:42600772
|
T | A | 3 | a0001c0001t0001g0068a0001c0001t0006g0100a0001c0019t0007g0099 | 3 | HG01884.hp2 HG02622.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.1849-10206T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42600772 | ||||||
| chr1:42600808
|
G | GCT | 91 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(88): Show | 91 | HG00099.hp1 HG00323.hp2 HG00609.hp2 others(88): Show |
intron_variant | MODIFIER | c.1849-10150_1849-10 others(8): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr1 | 42600808 | |||||
| chr1:42600884
|
T | C | 215 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(212): Show | 215 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(212): Show |
intron_variant | MODIFIER | c.1849-10094T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42600884 | ||||||
| chr1:42600921
|
C | G | 1 | a0001c0001t0001g0125 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.1849-10057C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42600921 | ||||||
| chr1:42600922
|
C | T | 3 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075 | 3 | HG02055.hp2 HG02965.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.1849-10056C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42600922 | ||||||
| chr1:42600923
|
G | A | 27 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(24): Show | 27 | HG00099.hp1 HG00741.hp2 HG01071.hp2 others(24): Show |
intron_variant | MODIFIER | c.1849-10055G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42600923 | ||||||
| chr1:42600963
|
G | A | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1849-10015G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42600963 | ||||||
| chr1:42601028
|
T | C | 215 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(212): Show | 215 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(212): Show |
intron_variant | MODIFIER | c.1849-9950T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42601028 | ||||||
| chr1:42601344
|
G | A | 1 | a0001c0001t0001g0133 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.1849-9634G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42601344 | ||||||
| chr1:42601382
|
C | A | 1 | a0002c0003t0003g0025 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.1849-9596C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42601382 | ||||||
| chr1:42601698
|
C | T | 1 | a0002c0003t0009g0007 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1849-9280C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42601698 | ||||||
| chr1:42601723
|
A | G | 91 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(88): Show | 91 | HG00099.hp1 HG00323.hp2 HG00609.hp2 others(88): Show |
intron_variant | MODIFIER | c.1849-9255A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42601723 | ||||||
| chr1:42601725
|
C | T | 119 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(116): Show | 119 | HG00099.hp1 HG00323.hp2 HG00609.hp2 others(116): Show |
intron_variant | MODIFIER | c.1849-9253C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42601725 | ||||||
| chr1:42602116
|
A | C | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1849-8862A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42602116 | ||||||
| chr1:42602215
|
G | GA | 27 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(24): Show | 27 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(24): Show |
intron_variant | MODIFIER | c.1849-8754dupA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr1 | 42602215 | |||||
| chr1:42602277
|
T | A | 1 | a0001c0001t0001g0065 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1849-8701T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42602277 | ||||||
| chr1:42602283
|
TA | T | 29 | a0001c0001t0023g0128a0001c0005t0005g0300a0001c0005t0005g0301others(26): Show | 29 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(26): Show |
intron_variant | MODIFIER | c.1849-8685delA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr1 | 42602283 | |||||
| chr1:42602293
|
A | T | 91 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(88): Show | 91 | HG00099.hp1 HG00323.hp2 HG00609.hp2 others(88): Show |
intron_variant | MODIFIER | c.1849-8685A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42602293 | ||||||
| chr1:42602366
|
G | T | 1 | a0002c0003t0009g0007 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1849-8612G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42602366 | ||||||
| chr1:42602414
|
G | A | 1 | a0002c0003t0016g0041 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.1849-8564G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42602414 | ||||||
| chr1:42602544
|
C | A | 1 | a0001c0017t0006g0063 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1849-8434C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42602544 | ||||||
| chr1:42602621
|
A | G | 1 | a0002c0003t0003g0035 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.1849-8357A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42602621 | ||||||
| chr1:42602647
|
A | G | 91 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(88): Show | 91 | HG00099.hp1 HG00323.hp2 HG00609.hp2 others(88): Show |
intron_variant | MODIFIER | c.1849-8331A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42602647 | ||||||
| chr1:42602672
|
A | C | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1849-8306A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42602672 | ||||||
| chr1:42602777
|
C | A | 87 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(84): Show | 87 | HG00099.hp1 HG00323.hp2 HG00609.hp2 others(84): Show |
intron_variant | MODIFIER | c.1849-8201C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42602777 | ||||||
| chr1:42603043
|
T | C | 2 | a0001c0021t0045g0049a0003c0022t0046g0050 | 2 | HG02559.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.1849-7935T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42603043 | ||||||
| chr1:42603134
|
G | T | 1 | a0001c0006t0005g0320 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1849-7844G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42603134 | ||||||
| chr1:42603145
|
T | C | 5 | a0001c0006t0005g0320a0001c0006t0008g0314a0001c0006t0008g0318others(2): Show | 5 | HG02145.hp1 HG02717.hp1 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.1849-7833T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42603145 | ||||||
| chr1:42603408
|
T | C | 87 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(84): Show | 87 | HG00099.hp1 HG00323.hp2 HG00609.hp2 others(84): Show |
intron_variant | MODIFIER | c.1849-7570T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42603408 | ||||||
| chr1:42603418
|
G | A | 1 | a0001c0010t0035g0274 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.1849-7560G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42603418 | ||||||
| chr1:42603488
|
C | G | 3 | a0001c0004t0004g0199a0001c0004t0004g0200a0001c0004t0015g0201 | 3 | HG01069.hp2 HG02145.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.1849-7490C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42603488 | ||||||
| chr1:42603536
|
G | A | 10 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(7): Show | 10 | HG01167.hp2 HG02109.hp2 HG02572.hp2 others(7): Show |
intron_variant | MODIFIER | c.1849-7442G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42603536 | ||||||
| chr1:42603552
|
A | G | 91 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(88): Show | 91 | HG00099.hp1 HG00323.hp2 HG00609.hp2 others(88): Show |
intron_variant | MODIFIER | c.1849-7426A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42603552 | ||||||
| chr1:42603575
|
A | G | 4 | a0001c0001t0006g0177a0001c0001t0006g0180a0001c0001t0006g0186others(1): Show | 4 | HG01099.hp1 HG01975.hp1 HG03688.hp1 others(1): Show |
intron_variant | MODIFIER | c.1849-7403A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42603575 | ||||||
| chr1:42603734
|
A | G | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1849-7244A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42603734 | ||||||
| chr1:42603764
|
C | G | 96 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(93): Show | 96 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(93): Show |
intron_variant | MODIFIER | c.1849-7214C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42603764 | ||||||
| chr1:42603792
|
T | C | 1 | a0006c0029t0039g0052 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1849-7186T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42603792 | ||||||
| chr1:42603945
|
C | T | 7 | a0001c0001t0001g0068a0001c0001t0001g0084a0001c0001t0001g0097others(4): Show | 7 | HG01884.hp2 HG02622.hp2 HG02717.hp2 others(4): Show |
intron_variant | MODIFIER | c.1849-7033C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42603945 | ||||||
| chr1:42603980
|
A | G | 119 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(116): Show | 119 | HG00099.hp1 HG00323.hp2 HG00609.hp2 others(116): Show |
intron_variant | MODIFIER | c.1849-6998A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42603980 | ||||||
| chr1:42603989
|
G | A | 28 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(25): Show | 28 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(25): Show |
intron_variant | MODIFIER | c.1849-6989G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42603989 | ||||||
| chr1:42604278
|
T | C | 1 | a0003c0014t0029g0064 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.1849-6700T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42604278 | ||||||
| chr1:42604291
|
T | C | 91 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(88): Show | 91 | HG00099.hp1 HG00323.hp2 HG00609.hp2 others(88): Show |
intron_variant | MODIFIER | c.1849-6687T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42604291 | ||||||
| chr1:42604595
|
C | T | 119 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(116): Show | 119 | HG00099.hp1 HG00323.hp2 HG00609.hp2 others(116): Show |
intron_variant | MODIFIER | c.1849-6383C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42604595 | ||||||
| chr1:42604774
|
T | G | 2 | a0001c0004t0004g0268a0001c0004t0004g0288 | 2 | NA18943.hp2 NA19082.hp2 |
intron_variant | MODIFIER | c.1849-6204T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42604774 | ||||||
| chr1:42605445
|
T | A | 28 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(25): Show | 28 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(25): Show |
intron_variant | MODIFIER | c.1849-5533T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42605445 | ||||||
| chr1:42605478
|
C | T | 28 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(25): Show | 28 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(25): Show |
intron_variant | MODIFIER | c.1849-5500C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42605478 | ||||||
| chr1:42605626
|
A | G | 310 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(307): Show | 311 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(308): Show |
intron_variant | MODIFIER | c.1849-5352A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42605626 | ||||||
| chr1:42605663
|
T | C | 1 | a0001c0001t0023g0128 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.1849-5315T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42605663 | ||||||
| chr1:42605735
|
C | T | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1849-5243C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42605735 | ||||||
| chr1:42606066
|
A | G | 1 | a0001c0004t0040g0293 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.1849-4912A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42606066 | ||||||
| chr1:42606139
|
T | C | 28 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(25): Show | 28 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(25): Show |
intron_variant | MODIFIER | c.1849-4839T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42606139 | ||||||
| chr1:42606140
|
A | G | 96 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(93): Show | 96 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(93): Show |
intron_variant | MODIFIER | c.1849-4838A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42606140 | ||||||
| chr1:42606228
|
G | A | 98 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(95): Show | 98 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(95): Show |
intron_variant | MODIFIER | c.1849-4750G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42606228 | ||||||
| chr1:42606321
|
G | A | 98 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(95): Show | 98 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(95): Show |
intron_variant | MODIFIER | c.1849-4657G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42606321 | ||||||
| chr1:42606403
|
T | C | 1 | a0002c0003t0003g0032 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.1849-4575T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42606403 | ||||||
| chr1:42606459
|
G | A | 1 | a0001c0001t0006g0178 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1849-4519G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42606459 | ||||||
| chr1:42606462
|
G | C | 1 | a0001c0001t0001g0198 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1849-4516G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42606462 | ||||||
| chr1:42606489
|
G | A | 1 | a0001c0001t0006g0193 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.1849-4489G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42606489 | ||||||
| chr1:42606525
|
G | A | 1 | a0002c0003t0005g0023 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.1849-4453G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42606525 | ||||||
| chr1:42606769
|
A | C | 28 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(25): Show | 28 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(25): Show |
intron_variant | MODIFIER | c.1849-4209A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42606769 | ||||||
| chr1:42606807
|
T | C | 1 | a0001c0005t0036g0309 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1849-4171T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42606807 | ||||||
| chr1:42606856
|
T | A | 6 | a0001c0007t0005g0313a0001c0007t0005g0315a0001c0007t0005g0316others(3): Show | 6 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(3): Show |
intron_variant | MODIFIER | c.1849-4122T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42606856 | ||||||
| chr1:42606868
|
C | A | 126 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(123): Show | 126 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(123): Show |
intron_variant | MODIFIER | c.1849-4110C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42606868 | ||||||
| chr1:42606976
|
T | C | 1 | a0001c0001t0006g0186 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1849-4002T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42606976 | ||||||
| chr1:42607318
|
G | A | 28 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(25): Show | 28 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(25): Show |
intron_variant | MODIFIER | c.1849-3660G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42607318 | ||||||
| chr1:42607420
|
G | A | 126 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(123): Show | 126 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(123): Show |
intron_variant | MODIFIER | c.1849-3558G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42607420 | ||||||
| chr1:42607555
|
T | TA | 8 | a0001c0001t0001g0088a0001c0001t0001g0101a0001c0001t0001g0107others(5): Show | 8 | HG01071.hp1 HG01361.hp1 HG01934.hp2 others(5): Show |
intron_variant | MODIFIER | c.1849-3405dupA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr1 | 42607555 | |||||
| chr1:42607555
|
TA | T | 31 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(28): Show | 31 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(28): Show |
intron_variant | MODIFIER | c.1849-3405delA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr1 | 42607555 | |||||
| chr1:42607555
|
TAA | T | 98 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(95): Show | 98 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(95): Show |
intron_variant | MODIFIER | c.1849-3406_1849-340 others(6): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr1 | 42607555 | |||||
| chr1:42607570
|
A | G | 2 | a0001c0021t0045g0049a0003c0022t0046g0050 | 2 | HG02559.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.1849-3408A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42607570 | ||||||
| chr1:42607589
|
A | T | 9 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(6): Show | 9 | HG02055.hp2 HG02559.hp1 HG02809.hp1 others(6): Show |
intron_variant | MODIFIER | c.1849-3389A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42607589 | ||||||
| chr1:42607632
|
T | C | 126 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(123): Show | 126 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(123): Show |
intron_variant | MODIFIER | c.1849-3346T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42607632 | ||||||
| chr1:42607648
|
G | A | 126 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(123): Show | 126 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(123): Show |
intron_variant | MODIFIER | c.1849-3330G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42607648 | ||||||
| chr1:42607655
|
GA | G | 28 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(25): Show | 28 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(25): Show |
intron_variant | MODIFIER | c.1849-3312delA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr1 | 42607655 | |||||
| chr1:42607656
|
A | G | 98 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(95): Show | 98 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(95): Show |
intron_variant | MODIFIER | c.1849-3322A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42607656 | ||||||
| chr1:42607657
|
A | G | 27 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(24): Show | 27 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(24): Show |
intron_variant | MODIFIER | c.1849-3321A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42607657 | ||||||
| chr1:42607729
|
T | C | 1 | a0002c0003t0003g0022 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.1849-3249T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42607729 | ||||||
| chr1:42607793
|
A | G | 126 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(123): Show | 126 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(123): Show |
intron_variant | MODIFIER | c.1849-3185A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42607793 | ||||||
| chr1:42607833
|
T | C | 126 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(123): Show | 126 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(123): Show |
intron_variant | MODIFIER | c.1849-3145T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42607833 | ||||||
| chr1:42607850
|
A | T | 96 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(93): Show | 96 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(93): Show |
intron_variant | MODIFIER | c.1849-3128A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42607850 | ||||||
| chr1:42607930
|
C | G | 1 | a0001c0001t0001g0198 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1849-3048C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42607930 | ||||||
| chr1:42607990
|
C | A | 1 | a0001c0005t0008g0203 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1849-2988C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42607990 | ||||||
| chr1:42607991
|
C | T | 1 | a0001c0005t0008g0203 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1849-2987C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42607991 | ||||||
| chr1:42608002
|
T | A | 3 | a0002c0003t0003g0030a0002c0003t0003g0037a0002c0003t0014g0029 | 3 | NA18612.hp1 NA18962.hp2 NA18975.hp1 |
intron_variant | MODIFIER | c.1849-2976T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42608002 | ||||||
| chr1:42608010
|
C | T | 28 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(25): Show | 28 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(25): Show |
intron_variant | MODIFIER | c.1849-2968C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42608010 | ||||||
| chr1:42608028
|
ATCATACG others(76): Show |
A | 2 | a0001c0021t0045g0049a0003c0022t0046g0050 | 2 | HG02559.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.1849-2944_1849-286 others(87): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr1 | 42608028 | |||||
| chr1:42608049
|
C | T | 2 | a0001c0002t0002g0213a0001c0004t0015g0210 | 2 | HG02698.hp2 HG03927.hp2 |
intron_variant | MODIFIER | c.1849-2929C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42608049 | ||||||
| chr1:42608132
|
C | T | 124 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(121): Show | 124 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(121): Show |
intron_variant | MODIFIER | c.1849-2846C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42608132 | ||||||
| chr1:42608215
|
C | A | 2 | a0001c0021t0045g0049a0003c0022t0046g0050 | 2 | HG02559.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.1849-2763C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42608215 | ||||||
| chr1:42608233
|
A | G | 1 | a0001c0001t0001g0122 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.1849-2745A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42608233 | ||||||
| chr1:42608272
|
A | G | 28 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(25): Show | 28 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(25): Show |
intron_variant | MODIFIER | c.1849-2706A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42608272 | ||||||
| chr1:42608298
|
G | A | 28 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(25): Show | 28 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(25): Show |
intron_variant | MODIFIER | c.1849-2680G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42608298 | ||||||
| chr1:42608314
|
T | C | 1 | a0006c0029t0039g0052 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1849-2664T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42608314 | ||||||
| chr1:42608367
|
G | A | 28 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(25): Show | 28 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(25): Show |
intron_variant | MODIFIER | c.1849-2611G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42608367 | ||||||
| chr1:42608423
|
C | T | 1 | a0001c0001t0001g0198 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1849-2555C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42608423 | ||||||
| chr1:42608430
|
T | G | 28 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(25): Show | 28 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(25): Show |
intron_variant | MODIFIER | c.1849-2548T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42608430 | ||||||
| chr1:42608498
|
G | C | 28 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(25): Show | 28 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(25): Show |
intron_variant | MODIFIER | c.1849-2480G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42608498 | ||||||
| chr1:42608518
|
C | G | 28 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(25): Show | 28 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(25): Show |
intron_variant | MODIFIER | c.1849-2460C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42608518 | ||||||
| chr1:42608542
|
T | C | 6 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(3): Show | 6 | HG01891.hp2 HG02970.hp2 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.1849-2436T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42608542 | ||||||
| chr1:42608544
|
C | CAA | 28 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(25): Show | 28 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(25): Show |
intron_variant | MODIFIER | c.1849-2426_1849-242 others(6): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr1 | 42608544 | |||||
| chr1:42608562
|
A | G | 28 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(25): Show | 28 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(25): Show |
intron_variant | MODIFIER | c.1849-2416A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42608562 | ||||||
| chr1:42608572
|
G | A | 8 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(5): Show | 8 | HG01167.hp2 HG02109.hp2 HG02886.hp1 others(5): Show |
intron_variant | MODIFIER | c.1849-2406G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42608572 | ||||||
| chr1:42608663
|
C | T | 1 | a0001c0002t0002g0240 | 1 | NA18980.hp1 | intron_variant | MODIFIER | c.1849-2315C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42608663 | ||||||
| chr1:42608683
|
CGACA | C | 12 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(9): Show | 12 | HG01167.hp2 HG02109.hp2 HG02572.hp2 others(9): Show |
intron_variant | MODIFIER | c.1849-2288_1849-228 others(8): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr1 | 42608683 | |||||
| chr1:42608684
|
G | A | 6 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(3): Show | 6 | HG01891.hp2 HG02970.hp2 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.1849-2294G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42608684 | ||||||
| chr1:42608686
|
C | T | 96 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(93): Show | 96 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(93): Show |
intron_variant | MODIFIER | c.1849-2292C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42608686 | ||||||
| chr1:42608711
|
T | C | 28 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(25): Show | 28 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(25): Show |
intron_variant | MODIFIER | c.1849-2267T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42608711 | ||||||
| chr1:42608716
|
C | CA | 67 | a0001c0001t0001g0072a0001c0001t0001g0101a0001c0001t0001g0144others(64): Show | 67 | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(64): Show |
intron_variant | MODIFIER | c.1849-2238dupA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr1 | 42608716 | |||||
| chr1:42608716
|
C | CAA | 95 | a0001c0001t0006g0171a0001c0002t0002g0204a0001c0002t0002g0205others(92): Show | 95 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(92): Show |
intron_variant | MODIFIER | c.1849-2239_1849-223 others(6): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr1 | 42608716 | |||||
| chr1:42608716
|
C | CAAA | 14 | a0001c0002t0002g0212a0001c0002t0002g0213a0001c0002t0002g0218others(11): Show | 14 | HG00423.hp2 HG01891.hp1 HG02148.hp2 others(11): Show |
intron_variant | MODIFIER | c.1849-2240_1849-223 others(7): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr1 | 42608716 | |||||
| chr1:42608716
|
CA | C | 13 | a0001c0001t0001g0084a0001c0001t0001g0142a0001c0001t0001g0157others(10): Show | 13 | HG01069.hp1 HG02145.hp1 HG02559.hp2 others(10): Show |
intron_variant | MODIFIER | c.1849-2238delA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr1 | 42608716 | |||||
| chr1:42608942
|
G | A | 28 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(25): Show | 28 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(25): Show |
intron_variant | MODIFIER | c.1849-2036G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42608942 | ||||||
| chr1:42609011
|
T | G | 28 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(25): Show | 28 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(25): Show |
intron_variant | MODIFIER | c.1849-1967T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42609011 | ||||||
| chr1:42609034
|
G | A | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1849-1944G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42609034 | ||||||
| chr1:42609036
|
G | A | 4 | a0002c0003t0003g0014a0002c0003t0003g0028a0002c0003t0003g0051others(1): Show | 4 | HG00733.hp2 HG01516.hp1 HG02280.hp2 others(1): Show |
intron_variant | MODIFIER | c.1849-1942G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42609036 | ||||||
| chr1:42609095
|
C | G | 28 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(25): Show | 28 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(25): Show |
intron_variant | MODIFIER | c.1849-1883C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42609095 | ||||||
| chr1:42609283
|
C | G | 217 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(214): Show | 217 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(214): Show |
intron_variant | MODIFIER | c.1849-1695C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42609283 | ||||||
| chr1:42609314
|
T | C | 28 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(25): Show | 28 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(25): Show |
intron_variant | MODIFIER | c.1849-1664T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42609314 | ||||||
| chr1:42609543
|
A | C | 28 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(25): Show | 28 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(25): Show |
intron_variant | MODIFIER | c.1849-1435A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42609543 | ||||||
| chr1:42609731
|
G | C | 1 | a0001c0006t0008g0322 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1849-1247G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42609731 | ||||||
| chr1:42609772
|
A | G | 1 | a0001c0006t0008g0322 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1849-1206A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42609772 | ||||||
| chr1:42609822
|
A | C | 1 | a0006c0029t0039g0052 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1849-1156A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42609822 | ||||||
| chr1:42609923
|
AT | A | 6 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(3): Show | 6 | HG01891.hp2 HG02970.hp2 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.1849-1053delT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr1 | 42609923 | |||||
| chr1:42609968
|
C | T | 1 | a0001c0001t0019g0167 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.1849-1010C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42609968 | ||||||
| chr1:42610016
|
A | G | 28 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(25): Show | 28 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(25): Show |
intron_variant | MODIFIER | c.1849-962A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42610016 | ||||||
| chr1:42610037
|
C | T | 28 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(25): Show | 28 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(25): Show |
intron_variant | MODIFIER | c.1849-941C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42610037 | ||||||
| chr1:42610038
|
C | T | 43 | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(40): Show | 43 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(40): Show |
intron_variant | MODIFIER | c.1849-940C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42610038 | ||||||
| chr1:42610365
|
C | T | 28 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(25): Show | 28 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(25): Show |
intron_variant | MODIFIER | c.1849-613C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42610365 | ||||||
| chr1:42610407
|
A | AT | 44 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(41): Show | 44 | HG00099.hp1 HG00741.hp2 HG01071.hp2 others(41): Show |
intron_variant | MODIFIER | c.1849-565dupT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr1 | 42610407 | |||||
| chr1:42610417
|
TTTTTGTT others(3): Show |
T | 2 | a0003c0008t0012g0262a0003c0008t0037g0263 | 2 | HG02896.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.1849-545_1849-536d others(12): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr1 | 42610417 | |||||
| chr1:42610483
|
G | C | 27 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(24): Show | 27 | HG00099.hp1 HG00741.hp2 HG01071.hp2 others(24): Show |
intron_variant | MODIFIER | c.1849-495G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42610483 | ||||||
| chr1:42610550
|
T | A | 29 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(26): Show | 29 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(26): Show |
intron_variant | MODIFIER | c.1849-428T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42610550 | ||||||
| chr1:42610613
|
T | C | 29 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(26): Show | 29 | HG01167.hp2 HG01243.hp2 HG01884.hp1 others(26): Show |
intron_variant | MODIFIER | c.1849-365T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42610613 | ||||||
| chr1:42610822
|
A | G | 27 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(24): Show | 27 | HG00099.hp1 HG00741.hp2 HG01071.hp2 others(24): Show |
intron_variant | MODIFIER | c.1849-156A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | chr1 | 42610822 | ||||||
| chr1:42610884
|
C | CT | 12 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(9): Show | 12 | HG00558.hp1 HG00673.hp2 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.1849-78dupT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr1 | 42610884 | |||||
| chr1:42610884
|
CT | C | 39 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(36): Show | 39 | HG00099.hp1 HG00738.hp1 HG00741.hp2 others(36): Show |
intron_variant | MODIFIER | c.1849-78delT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr1 | 42610884 | |||||
| chr1:42610884
|
CTT | C | 66 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(63): Show | 66 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(63): Show |
intron_variant | MODIFIER | c.1849-79_1849-78del others(2): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr1 | 42610884 | |||||
| chr1:42611173
|
G | A | 1 | a0002c0003t0003g0053 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1961+83G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42611173 | ||||||
| chr1:42611213
|
A | G | 8 | a0001c0007t0005g0313a0001c0007t0005g0315a0001c0007t0005g0316others(5): Show | 8 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(5): Show |
intron_variant | MODIFIER | c.1961+123A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42611213 | ||||||
| chr1:42611291
|
G | C | 1 | a0001c0013t0031g0129 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.1961+201G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42611291 | ||||||
| chr1:42611468
|
A | G | 17 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(14): Show | 17 | HG01167.hp2 HG01884.hp2 HG02109.hp2 others(14): Show |
intron_variant | MODIFIER | c.1961+378A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42611468 | ||||||
| chr1:42611487
|
A | G | 2 | a0001c0002t0002g0213a0001c0004t0015g0210 | 2 | HG02698.hp2 HG03927.hp2 |
intron_variant | MODIFIER | c.1961+397A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42611487 | ||||||
| chr1:42611515
|
A | G | 14 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(11): Show | 14 | HG01167.hp2 HG01884.hp2 HG02109.hp2 others(11): Show |
intron_variant | MODIFIER | c.1961+425A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42611515 | ||||||
| chr1:42611553
|
T | TATAC | 7 | a0001c0002t0002g0204a0001c0009t0017g0055a0001c0009t0017g0056others(4): Show | 7 | HG01891.hp2 HG01952.hp2 HG02970.hp2 others(4): Show |
intron_variant | MODIFIER | c.1961+483_1961+486d others(6): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42611553 | |||||
| chr1:42611553
|
TATAC | T | 40 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(37): Show | 40 | HG00099.hp1 HG00741.hp2 HG01071.hp2 others(37): Show |
intron_variant | MODIFIER | c.1961+483_1961+486d others(6): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42611553 | |||||
| chr1:42611557
|
C | CATAT | 4 | a0002c0003t0003g0053a0002c0003t0004g0008a0002c0003t0009g0007others(1): Show | 4 | HG00738.hp1 HG02258.hp2 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.1961+470_1961+471i others(6): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42611557 | |||||
| chr1:42611639
|
AT | A | 31 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(28): Show | 31 | HG00099.hp1 HG00741.hp2 HG01071.hp2 others(28): Show |
intron_variant | MODIFIER | c.1961+558delT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42611639 | |||||
| chr1:42611685
|
A | G | 4 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(1): Show | 4 | HG01891.hp2 HG02970.hp2 NA18522.hp2 others(1): Show |
intron_variant | MODIFIER | c.1961+595A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42611685 | ||||||
| chr1:42611867
|
A | G | 16 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(13): Show | 16 | HG01167.hp2 HG01884.hp2 HG02109.hp2 others(13): Show |
intron_variant | MODIFIER | c.1961+777A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42611867 | ||||||
| chr1:42612272
|
A | G | 18 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(15): Show | 18 | HG01167.hp2 HG01884.hp2 HG02109.hp2 others(15): Show |
intron_variant | MODIFIER | c.1961+1182A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42612272 | ||||||
| chr1:42612355
|
T | C | 2 | a0003c0012t0048g0062a0003c0012t0049g0061 | 2 | HG03471.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.1961+1265T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42612355 | ||||||
| chr1:42612823
|
C | T | 1 | a0001c0007t0005g0317 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.1961+1733C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42612823 | ||||||
| chr1:42612851
|
T | A | 68 | a0001c0001t0001g0198a0001c0002t0002g0204a0001c0002t0002g0205others(65): Show | 68 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(65): Show |
intron_variant | MODIFIER | c.1961+1761T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42612851 | ||||||
| chr1:42612907
|
A | G | 8 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(5): Show | 8 | HG02055.hp2 HG02559.hp1 HG02809.hp1 others(5): Show |
intron_variant | MODIFIER | c.1961+1817A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42612907 | ||||||
| chr1:42612976
|
T | C | 1 | a0001c0009t0017g0057 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.1961+1886T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42612976 | ||||||
| chr1:42613007
|
A | G | 1 | a0006c0029t0039g0052 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1961+1917A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42613007 | ||||||
| chr1:42613161
|
A | C | 1 | a0003c0008t0012g0289 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.1961+2071A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42613161 | ||||||
| chr1:42613241
|
CTTTAT | C | 222 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(219): Show | 222 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(219): Show |
intron_variant | MODIFIER | c.1961+2171_1961+217 others(9): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42613241 | |||||
| chr1:42613314
|
G | A | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1961+2224G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42613314 | ||||||
| chr1:42613387
|
T | G | 1 | a0001c0002t0002g0217 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.1961+2297T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42613387 | ||||||
| chr1:42613473
|
G | A | 7 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0005t0036g0309others(4): Show | 7 | HG00639.hp2 HG02896.hp1 HG03195.hp1 others(4): Show |
intron_variant | MODIFIER | c.1961+2383G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42613473 | ||||||
| chr1:42613506
|
G | A | 4 | a0001c0001t0001g0065a0001c0001t0001g0066a0001c0001t0001g0086others(1): Show | 4 | HG02257.hp2 HG03139.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.1961+2416G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42613506 | ||||||
| chr1:42613522
|
G | A | 67 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(64): Show | 67 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(64): Show |
intron_variant | MODIFIER | c.1961+2432G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42613522 | ||||||
| chr1:42613545
|
T | C | 7 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0005t0036g0309others(4): Show | 7 | HG00639.hp2 HG02896.hp1 HG03195.hp1 others(4): Show |
intron_variant | MODIFIER | c.1961+2455T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42613545 | ||||||
| chr1:42613549
|
C | A | 7 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0005t0036g0309others(4): Show | 7 | HG00639.hp2 HG02896.hp1 HG03195.hp1 others(4): Show |
intron_variant | MODIFIER | c.1961+2459C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42613549 | ||||||
| chr1:42613706
|
T | C | 2 | a0001c0013t0019g0081a0011c0026t0042g0299 | 2 | HG02280.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.1961+2616T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42613706 | ||||||
| chr1:42613724
|
G | A | 1 | a0001c0002t0002g0231 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.1961+2634G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42613724 | ||||||
| chr1:42613833
|
A | G | 2 | a0001c0005t0008g0202a0001c0005t0008g0203 | 2 | HG03209.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.1961+2743A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42613833 | ||||||
| chr1:42613924
|
C | CCG | 7 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0005t0036g0309others(4): Show | 7 | HG00639.hp2 HG02896.hp1 HG03195.hp1 others(4): Show |
intron_variant | MODIFIER | c.1961+2834_1961+283 others(6): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42613924 | ||||||
| chr1:42614019
|
C | T | 32 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(29): Show | 32 | HG00099.hp1 HG00741.hp2 HG01071.hp2 others(29): Show |
intron_variant | MODIFIER | c.1961+2929C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42614019 | ||||||
| chr1:42614082
|
CT | C | 75 | a0001c0001t0001g0083a0001c0002t0002g0204a0001c0002t0002g0205others(72): Show | 75 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(72): Show |
intron_variant | MODIFIER | c.1961+3008delT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42614082 | |||||
| chr1:42614143
|
G | C | 222 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(219): Show | 222 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(219): Show |
intron_variant | MODIFIER | c.1961+3053G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42614143 | ||||||
| chr1:42614151
|
G | A | 1 | a0001c0001t0001g0175 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.1961+3061G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42614151 | ||||||
| chr1:42614230
|
G | A | 67 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(64): Show | 67 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(64): Show |
intron_variant | MODIFIER | c.1961+3140G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42614230 | ||||||
| chr1:42614309
|
T | C | 7 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0005t0036g0309others(4): Show | 7 | HG00639.hp2 HG02896.hp1 HG03195.hp1 others(4): Show |
intron_variant | MODIFIER | c.1961+3219T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42614309 | ||||||
| chr1:42614352
|
T | C | 2 | a0001c0001t0001g0123a0001c0001t0001g0124 | 2 | NA18941.hp1 NA18980.hp2 |
intron_variant | MODIFIER | c.1961+3262T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42614352 | ||||||
| chr1:42614358
|
G | A | 8 | a0001c0007t0005g0313a0001c0007t0005g0315a0001c0007t0005g0316others(5): Show | 8 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(5): Show |
intron_variant | MODIFIER | c.1961+3268G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42614358 | ||||||
| chr1:42614408
|
G | A | 1 | a0001c0001t0001g0131 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.1961+3318G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42614408 | ||||||
| chr1:42614421
|
A | G | 7 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0005t0036g0309others(4): Show | 7 | HG00639.hp2 HG02896.hp1 HG03195.hp1 others(4): Show |
intron_variant | MODIFIER | c.1961+3331A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42614421 | ||||||
| chr1:42614537
|
A | AG | 7 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(4): Show | 7 | HG01167.hp2 HG01891.hp2 HG02970.hp2 others(4): Show |
intron_variant | MODIFIER | c.1961+3448dupG | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42614537 | |||||
| chr1:42614540
|
A | ATAAGC | 7 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(4): Show | 7 | HG01167.hp2 HG01891.hp2 HG02970.hp2 others(4): Show |
intron_variant | MODIFIER | c.1961+3450_1961+345 others(9): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42614540 | ||||||
| chr1:42614557
|
C | T | 7 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0005t0036g0309others(4): Show | 7 | HG00639.hp2 HG02896.hp1 HG03195.hp1 others(4): Show |
intron_variant | MODIFIER | c.1961+3467C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42614557 | ||||||
| chr1:42614569
|
G | A | 1 | a0003c0014t0028g0067 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.1961+3479G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42614569 | ||||||
| chr1:42614617
|
T | G | 7 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0005t0036g0309others(4): Show | 7 | HG00639.hp2 HG02896.hp1 HG03195.hp1 others(4): Show |
intron_variant | MODIFIER | c.1961+3527T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42614617 | ||||||
| chr1:42614701
|
C | A | 2 | a0001c0005t0008g0202a0001c0005t0008g0203 | 2 | HG03209.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.1961+3611C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42614701 | ||||||
| chr1:42614786
|
C | G | 2 | a0001c0005t0008g0202a0001c0005t0008g0203 | 2 | HG03209.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.1961+3696C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42614786 | ||||||
| chr1:42614787
|
G | GA | 44 | a0001c0001t0010g0196a0001c0004t0003g0237a0001c0004t0003g0255others(41): Show | 44 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(41): Show |
intron_variant | MODIFIER | c.1961+3711dupA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42614787 | |||||
| chr1:42614788
|
A | G | 5 | a0001c0005t0036g0309a0003c0014t0028g0067a0004c0011t0009g0003others(2): Show | 5 | HG00639.hp2 HG02896.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1961+3698A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42614788 | ||||||
| chr1:42614896
|
T | C | 7 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0005t0036g0309others(4): Show | 7 | HG00639.hp2 HG02896.hp1 HG03195.hp1 others(4): Show |
intron_variant | MODIFIER | c.1961+3806T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42614896 | ||||||
| chr1:42615121
|
A | G | 1 | a0001c0021t0045g0049 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1961+4031A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42615121 | ||||||
| chr1:42615215
|
G | A | 1 | a0006c0029t0039g0052 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1961+4125G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42615215 | ||||||
| chr1:42615238
|
G | T | 7 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0005t0036g0309others(4): Show | 7 | HG00639.hp2 HG02896.hp1 HG03195.hp1 others(4): Show |
intron_variant | MODIFIER | c.1961+4148G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42615238 | ||||||
| chr1:42615274
|
A | G | 1 | a0003c0014t0028g0067 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.1961+4184A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42615274 | ||||||
| chr1:42615285
|
A | C | 8 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(5): Show | 8 | HG01884.hp2 HG02109.hp2 HG02886.hp1 others(5): Show |
intron_variant | MODIFIER | c.1961+4195A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42615285 | ||||||
| chr1:42615355
|
T | C | 11 | a0001c0007t0005g0313a0001c0007t0005g0315a0001c0007t0005g0316others(8): Show | 11 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(8): Show |
intron_variant | MODIFIER | c.1961+4265T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42615355 | ||||||
| chr1:42615360
|
T | C | 311 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(308): Show | 312 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(309): Show |
intron_variant | MODIFIER | c.1961+4270T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42615360 | ||||||
| chr1:42615415
|
A | G | 5 | a0001c0006t0005g0320a0001c0006t0008g0314a0001c0006t0008g0318others(2): Show | 5 | HG02145.hp1 HG02717.hp1 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.1961+4325A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42615415 | ||||||
| chr1:42615426
|
T | C | 2 | a0001c0001t0011g0194a0001c0001t0013g0195 | 2 | HG01515.hp1 HG02148.hp1 |
intron_variant | MODIFIER | c.1961+4336T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42615426 | ||||||
| chr1:42615443
|
G | A | 32 | a0001c0001t0006g0100a0001c0001t0006g0143a0001c0002t0044g0257others(29): Show | 32 | HG00438.hp1 HG00673.hp1 HG01069.hp2 others(29): Show |
intron_variant | MODIFIER | c.1961+4353G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42615443 | ||||||
| chr1:42615459
|
C | T | 45 | a0001c0001t0010g0196a0001c0004t0003g0237a0001c0004t0003g0255others(42): Show | 45 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(42): Show |
intron_variant | MODIFIER | c.1961+4369C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42615459 | ||||||
| chr1:42615460
|
G | A | 1 | a0001c0001t0001g0139 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.1961+4370G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42615460 | ||||||
| chr1:42615530
|
C | A | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1961+4440C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42615530 | ||||||
| chr1:42615592
|
C | T | 1 | a0001c0005t0008g0202 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1961+4502C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42615592 | ||||||
| chr1:42615595
|
G | A | 7 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(4): Show | 7 | HG01167.hp2 HG01891.hp2 HG02970.hp2 others(4): Show |
intron_variant | MODIFIER | c.1961+4505G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42615595 | ||||||
| chr1:42615599
|
G | A | 26 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(23): Show | 26 | HG00099.hp1 HG00741.hp2 HG01071.hp2 others(23): Show |
intron_variant | MODIFIER | c.1961+4509G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42615599 | ||||||
| chr1:42615622
|
C | A | 75 | a0001c0001t0001g0175a0001c0001t0006g0100a0001c0001t0006g0143others(72): Show | 75 | HG00099.hp1 HG00438.hp1 HG00673.hp1 others(72): Show |
intron_variant | MODIFIER | c.1961+4532C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42615622 | ||||||
| chr1:42615624
|
C | T | 4 | a0001c0001t0001g0091a0001c0001t0007g0093a0001c0001t0024g0145others(1): Show | 4 | HG01081.hp2 HG01106.hp2 HG01433.hp1 others(1): Show |
intron_variant | MODIFIER | c.1961+4534C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42615624 | ||||||
| chr1:42615706
|
G | A | 7 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0005t0036g0309others(4): Show | 7 | HG00639.hp2 HG02896.hp1 HG03195.hp1 others(4): Show |
intron_variant | MODIFIER | c.1961+4616G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42615706 | ||||||
| chr1:42615785
|
T | C | 1 | a0002c0003t0005g0024 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.1961+4695T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42615785 | ||||||
| chr1:42615869
|
C | T | 2 | a0001c0005t0008g0202a0001c0005t0008g0203 | 2 | HG03209.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.1961+4779C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42615869 | ||||||
| chr1:42615924
|
G | T | 211 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(208): Show | 211 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(208): Show |
intron_variant | MODIFIER | c.1961+4834G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42615924 | ||||||
| chr1:42615946
|
C | T | 1 | a0001c0005t0005g0304 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1961+4856C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42615946 | ||||||
| chr1:42616040
|
C | T | 67 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(64): Show | 67 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(64): Show |
intron_variant | MODIFIER | c.1961+4950C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42616040 | ||||||
| chr1:42616154
|
G | A | 2 | a0001c0013t0019g0081a0011c0026t0042g0299 | 2 | HG02280.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.1961+5064G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42616154 | ||||||
| chr1:42616311
|
A | G | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1961+5221A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42616311 | ||||||
| chr1:42616373
|
A | G | 1 | a0006c0029t0039g0052 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1961+5283A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42616373 | ||||||
| chr1:42616412
|
A | G | 7 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(4): Show | 7 | HG01167.hp2 HG01891.hp2 HG02970.hp2 others(4): Show |
intron_variant | MODIFIER | c.1961+5322A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42616412 | ||||||
| chr1:42616522
|
T | C | 1 | a0001c0005t0008g0203 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1961+5432T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42616522 | ||||||
| chr1:42616565
|
G | A | 233 | a0001c0001t0001g0065a0001c0001t0001g0066a0001c0001t0001g0068others(230): Show | 233 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(230): Show |
intron_variant | MODIFIER | c.1961+5475G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42616565 | ||||||
| chr1:42616698
|
A | C | 6 | a0001c0007t0005g0313a0001c0007t0005g0315a0001c0007t0005g0316others(3): Show | 6 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(3): Show |
intron_variant | MODIFIER | c.1961+5608A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42616698 | ||||||
| chr1:42616785
|
A | G | 7 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0005t0036g0309others(4): Show | 7 | HG00639.hp2 HG02896.hp1 HG03195.hp1 others(4): Show |
intron_variant | MODIFIER | c.1961+5695A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42616785 | ||||||
| chr1:42616854
|
C | T | 7 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0005t0036g0309others(4): Show | 7 | HG00639.hp2 HG02896.hp1 HG03195.hp1 others(4): Show |
intron_variant | MODIFIER | c.1961+5764C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42616854 | ||||||
| chr1:42616975
|
G | GA | 7 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0005t0036g0309others(4): Show | 7 | HG00639.hp2 HG02896.hp1 HG03195.hp1 others(4): Show |
intron_variant | MODIFIER | c.1961+5889dupA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42616975 | |||||
| chr1:42617011
|
C | T | 7 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0005t0036g0309others(4): Show | 7 | HG00639.hp2 HG02896.hp1 HG03195.hp1 others(4): Show |
intron_variant | MODIFIER | c.1961+5921C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42617011 | ||||||
| chr1:42617276
|
C | A | 1 | a0001c0001t0001g0079 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1961+6186C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42617276 | ||||||
| chr1:42617286
|
T | A | 1 | a0001c0002t0002g0240 | 1 | NA18980.hp1 | intron_variant | MODIFIER | c.1961+6196T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42617286 | ||||||
| chr1:42617308
|
T | G | 26 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(23): Show | 26 | HG00099.hp1 HG00741.hp2 HG01071.hp2 others(23): Show |
intron_variant | MODIFIER | c.1961+6218T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42617308 | ||||||
| chr1:42617531
|
C | T | 10 | a0001c0007t0005g0313a0001c0007t0005g0315a0001c0007t0005g0316others(7): Show | 10 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(7): Show |
intron_variant | MODIFIER | c.1961+6441C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42617531 | ||||||
| chr1:42617703
|
G | T | 2 | a0003c0014t0029g0064a0003c0022t0046g0050 | 2 | HG02559.hp2 HG02572.hp1 |
intron_variant | MODIFIER | c.1961+6613G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42617703 | ||||||
| chr1:42617731
|
T | C | 7 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0005t0036g0309others(4): Show | 7 | HG00639.hp2 HG02896.hp1 HG03195.hp1 others(4): Show |
intron_variant | MODIFIER | c.1961+6641T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42617731 | ||||||
| chr1:42617879
|
G | A | 1 | a0001c0001t0001g0101 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.1961+6789G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42617879 | ||||||
| chr1:42617964
|
G | T | 11 | a0001c0007t0005g0313a0001c0007t0005g0315a0001c0007t0005g0316others(8): Show | 11 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(8): Show |
intron_variant | MODIFIER | c.1961+6874G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42617964 | ||||||
| chr1:42618229
|
C | CT | 13 | a0001c0001t0001g0137a0001c0001t0006g0176a0001c0001t0006g0182others(10): Show | 13 | HG01516.hp1 HG01891.hp2 HG02109.hp1 others(10): Show |
intron_variant | MODIFIER | c.1961+7163dupT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42618229 | |||||
| chr1:42618229
|
C | CTTT | 10 | a0001c0007t0005g0313a0001c0007t0005g0315a0001c0007t0005g0316others(7): Show | 10 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(7): Show |
intron_variant | MODIFIER | c.1961+7161_1961+716 others(7): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42618229 | |||||
| chr1:42618229
|
C | CTTTT | 12 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(9): Show | 12 | HG00639.hp2 HG00733.hp1 HG01952.hp2 others(9): Show |
intron_variant | MODIFIER | c.1961+7160_1961+716 others(8): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42618229 | |||||
| chr1:42618229
|
C | CTTTTT | 54 | a0001c0002t0002g0208a0001c0002t0002g0211a0001c0002t0002g0212others(51): Show | 54 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(51): Show |
intron_variant | MODIFIER | c.1961+7159_1961+716 others(9): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42618229 | |||||
| chr1:42618229
|
C | CTTTTTT | 10 | a0001c0001t0001g0198a0001c0002t0002g0220a0001c0002t0002g0239others(7): Show | 10 | HG01175.hp2 HG01243.hp1 HG02809.hp2 others(7): Show |
intron_variant | MODIFIER | c.1961+7158_1961+716 others(10): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42618229 | |||||
| chr1:42618229
|
CT | C | 17 | a0001c0001t0001g0068a0001c0001t0001g0072a0001c0001t0001g0073others(14): Show | 17 | HG00323.hp1 HG00673.hp2 HG01069.hp2 others(14): Show |
intron_variant | MODIFIER | c.1961+7163delT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42618229 | |||||
| chr1:42618487
|
C | T | 1 | a0001c0017t0006g0063 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1961+7397C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42618487 | ||||||
| chr1:42618501
|
G | A | 1 | a0001c0001t0001g0136 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.1961+7411G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42618501 | ||||||
| chr1:42618647
|
G | T | 1 | a0001c0005t0008g0203 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1961+7557G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42618647 | ||||||
| chr1:42619040
|
G | A | 1 | a0002c0003t0003g0025 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.1961+7950G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42619040 | ||||||
| chr1:42619141
|
G | T | 9 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(6): Show | 9 | HG02055.hp2 HG02145.hp1 HG02559.hp1 others(6): Show |
intron_variant | MODIFIER | c.1961+8051G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42619141 | ||||||
| chr1:42619391
|
G | C | 3 | a0001c0005t0008g0202a0001c0005t0008g0203a0003c0014t0028g0067 | 3 | HG00639.hp2 HG03209.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.1961+8301G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42619391 | ||||||
| chr1:42619435
|
A | G | 1 | a0001c0001t0024g0145 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.1961+8345A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42619435 | ||||||
| chr1:42619544
|
G | A | 1 | a0003c0014t0028g0067 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.1961+8454G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42619544 | ||||||
| chr1:42619556
|
A | T | 5 | a0001c0002t0002g0246a0001c0002t0002g0247a0001c0002t0002g0248others(2): Show | 5 | NA18949.hp2 NA18971.hp2 NA19007.hp1 others(2): Show |
intron_variant | MODIFIER | c.1961+8466A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42619556 | ||||||
| chr1:42619611
|
TC | T | 32 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(29): Show | 32 | HG00099.hp1 HG00741.hp2 HG01071.hp2 others(29): Show |
intron_variant | MODIFIER | c.1961+8522delC | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42619611 | ||||||
| chr1:42619771
|
A | G | 11 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0005t0036g0309others(8): Show | 11 | HG00639.hp2 HG02717.hp1 HG02723.hp2 others(8): Show |
intron_variant | MODIFIER | c.1961+8681A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42619771 | ||||||
| chr1:42619799
|
C | G | 7 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0005t0036g0309others(4): Show | 7 | HG00639.hp2 HG02896.hp1 HG03195.hp1 others(4): Show |
intron_variant | MODIFIER | c.1961+8709C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42619799 | ||||||
| chr1:42620018
|
T | C | 68 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(65): Show | 68 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(65): Show |
intron_variant | MODIFIER | c.1961+8928T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42620018 | ||||||
| chr1:42620063
|
A | G | 7 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0005t0036g0309others(4): Show | 7 | HG00639.hp2 HG02896.hp1 HG03195.hp1 others(4): Show |
intron_variant | MODIFIER | c.1961+8973A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42620063 | ||||||
| chr1:42620217
|
C | G | 1 | a0003c0015t0041g0308 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.1961+9127C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42620217 | ||||||
| chr1:42620400
|
A | T | 2 | a0001c0013t0019g0081a0011c0026t0042g0299 | 2 | HG02280.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.1961+9310A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42620400 | ||||||
| chr1:42620462
|
C | A | 4 | a0001c0001t0006g0171a0001c0001t0006g0173a0001c0001t0011g0172others(1): Show | 4 | HG01109.hp1 HG01361.hp2 HG03704.hp1 others(1): Show |
intron_variant | MODIFIER | c.1961+9372C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42620462 | ||||||
| chr1:42620582
|
C | CA | 70 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(67): Show | 70 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(67): Show |
intron_variant | MODIFIER | c.1961+9507dupA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42620582 | |||||
| chr1:42620582
|
C | CAA | 7 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0005t0036g0309others(4): Show | 7 | HG00639.hp2 HG02896.hp1 HG03195.hp1 others(4): Show |
intron_variant | MODIFIER | c.1961+9506_1961+950 others(6): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42620582 | |||||
| chr1:42620609
|
C | G | 7 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0005t0036g0309others(4): Show | 7 | HG00639.hp2 HG02896.hp1 HG03195.hp1 others(4): Show |
intron_variant | MODIFIER | c.1961+9519C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42620609 | ||||||
| chr1:42620799
|
A | G | 1 | a0001c0021t0045g0049 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1961+9709A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42620799 | ||||||
| chr1:42620912
|
G | A | 3 | a0001c0005t0008g0202a0001c0005t0008g0203a0003c0014t0028g0067 | 3 | HG00639.hp2 HG03209.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.1961+9822G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42620912 | ||||||
| chr1:42621029
|
A | T | 1 | a0001c0001t0001g0132 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.1961+9939A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42621029 | ||||||
| chr1:42621086
|
A | G | 7 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0005t0036g0309others(4): Show | 7 | HG00639.hp2 HG02896.hp1 HG03195.hp1 others(4): Show |
intron_variant | MODIFIER | c.1961+9996A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42621086 | ||||||
| chr1:42621134
|
TA | T | 8 | a0001c0007t0005g0313a0001c0007t0005g0315a0001c0007t0005g0316others(5): Show | 8 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(5): Show |
intron_variant | MODIFIER | c.1961+10047delA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42621134 | |||||
| chr1:42621356
|
C | A | 1 | a0001c0013t0031g0129 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.1961+10266C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42621356 | ||||||
| chr1:42621406
|
C | T | 68 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(65): Show | 68 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(65): Show |
intron_variant | MODIFIER | c.1961+10316C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42621406 | ||||||
| chr1:42621497
|
T | TTTTA | 38 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(35): Show | 38 | HG00099.hp1 HG00639.hp2 HG00741.hp2 others(35): Show |
intron_variant | MODIFIER | c.1961+10435_1961+10 others(10): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42621497 | |||||
| chr1:42621497
|
T | TTTTATTT others(1): Show |
12 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(9): Show | 12 | HG01884.hp2 HG02004.hp2 HG02109.hp2 others(9): Show |
intron_variant | MODIFIER | c.1961+10431_1961+10 others(14): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42621497 | |||||
| chr1:42621497
|
T | TTTTATTT others(5): Show |
38 | a0001c0001t0010g0196a0001c0004t0003g0237a0001c0004t0003g0255others(35): Show | 38 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(35): Show |
intron_variant | MODIFIER | c.1961+10427_1961+10 others(18): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42621497 | |||||
| chr1:42621497
|
T | TTTTATTT others(9): Show |
5 | a0002c0003t0003g0045a0002c0003t0003g0046a0002c0003t0003g0048others(2): Show | 5 | HG01175.hp1 HG01515.hp2 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.1961+10423_1961+10 others(22): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42621497 | |||||
| chr1:42621497
|
TTTTA | T | 3 | a0001c0002t0002g0215a0001c0002t0002g0244a0001c0002t0002g0245 | 3 | HG00558.hp1 HG02056.hp2 HG02080.hp1 |
intron_variant | MODIFIER | c.1961+10435_1961+10 others(10): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42621497 | |||||
| chr1:42621548
|
G | C | 1 | a0001c0002t0033g0266 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.1961+10458G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42621548 | ||||||
| chr1:42621758
|
G | A | 26 | a0001c0001t0001g0175a0001c0001t0006g0171a0001c0001t0006g0173others(23): Show | 26 | HG00099.hp1 HG00741.hp2 HG01071.hp2 others(23): Show |
intron_variant | MODIFIER | c.1961+10668G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42621758 | ||||||
| chr1:42621884
|
C | A | 1 | a0005c0018t0026g0168 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1961+10794C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42621884 | ||||||
| chr1:42621923
|
G | A | 7 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0005t0036g0309others(4): Show | 7 | HG00639.hp2 HG02896.hp1 HG03195.hp1 others(4): Show |
intron_variant | MODIFIER | c.1961+10833G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42621923 | ||||||
| chr1:42622002
|
A | T | 1 | a0001c0021t0045g0049 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1961+10912A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42622002 | ||||||
| chr1:42622056
|
G | C | 19 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0005t0036g0309others(16): Show | 19 | HG00639.hp2 HG01243.hp2 HG01884.hp1 others(16): Show |
intron_variant | MODIFIER | c.1961+10966G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42622056 | ||||||
| chr1:42622281
|
C | T | 6 | a0001c0007t0005g0313a0001c0007t0005g0315a0001c0007t0005g0316others(3): Show | 6 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(3): Show |
intron_variant | MODIFIER | c.1961+11191C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42622281 | ||||||
| chr1:42622347
|
A | G | 4 | a0003c0012t0048g0062a0003c0012t0049g0061a0003c0015t0038g0305others(1): Show | 4 | HG01167.hp2 HG03471.hp2 NA20129.hp2 others(1): Show |
intron_variant | MODIFIER | c.1961+11257A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42622347 | ||||||
| chr1:42622418
|
C | T | 8 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(5): Show | 8 | HG01167.hp2 HG01891.hp2 HG02970.hp2 others(5): Show |
intron_variant | MODIFIER | c.1961+11328C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42622418 | ||||||
| chr1:42622459
|
C | T | 2 | a0001c0005t0008g0202a0001c0005t0008g0203 | 2 | HG03209.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.1961+11369C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42622459 | ||||||
| chr1:42622548
|
A | C | 7 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0005t0036g0309others(4): Show | 7 | HG00639.hp2 HG02896.hp1 HG03195.hp1 others(4): Show |
intron_variant | MODIFIER | c.1961+11458A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42622548 | ||||||
| chr1:42622647
|
C | A | 5 | a0001c0005t0036g0309a0003c0014t0028g0067a0004c0011t0009g0003others(2): Show | 5 | HG00639.hp2 HG02896.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1961+11557C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42622647 | ||||||
| chr1:42622688
|
A | G | 7 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0005t0036g0309others(4): Show | 7 | HG00639.hp2 HG02896.hp1 HG03195.hp1 others(4): Show |
intron_variant | MODIFIER | c.1961+11598A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42622688 | ||||||
| chr1:42622982
|
A | G | 1 | a0002c0016t0020g0006 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.1961+11892A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42622982 | ||||||
| chr1:42623004
|
A | T | 1 | a0001c0001t0001g0118 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.1961+11914A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42623004 | ||||||
| chr1:42623023
|
A | G | 4 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(1): Show | 4 | HG01891.hp2 HG02970.hp2 NA18522.hp2 others(1): Show |
intron_variant | MODIFIER | c.1961+11933A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42623023 | ||||||
| chr1:42623117
|
A | G | 2 | a0002c0016t0020g0006a0002c0016t0020g0010 | 2 | HG03654.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.1961+12027A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42623117 | ||||||
| chr1:42623359
|
C | A | 4 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0005t0036g0309others(1): Show | 4 | HG00639.hp2 HG03209.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.1961+12269C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42623359 | ||||||
| chr1:42623483
|
G | A | 2 | a0001c0005t0008g0202a0001c0005t0008g0203 | 2 | HG03209.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.1961+12393G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42623483 | ||||||
| chr1:42623492
|
A | G | 1 | a0001c0004t0004g0297 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.1961+12402A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42623492 | ||||||
| chr1:42623508
|
A | G | 1 | a0001c0001t0001g0163 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.1961+12418A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42623508 | ||||||
| chr1:42623616
|
A | G | 2 | a0001c0001t0006g0177a0001c0001t0006g0180 | 2 | HG03688.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.1961+12526A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42623616 | ||||||
| chr1:42623700
|
G | A | 4 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0005t0036g0309others(1): Show | 4 | HG00639.hp2 HG03209.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.1961+12610G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42623700 | ||||||
| chr1:42623956
|
T | G | 2 | a0001c0004t0009g0214a0001c0004t0009g0272 | 2 | HG03492.hp1 HG04199.hp2 |
intron_variant | MODIFIER | c.1961+12866T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42623956 | ||||||
| chr1:42623997
|
T | C | 64 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(61): Show | 64 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(61): Show |
intron_variant | MODIFIER | c.1961+12907T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42623997 | ||||||
| chr1:42624124
|
T | C | 2 | a0002c0003t0003g0026a0002c0003t0014g0038 | 2 | HG01928.hp2 HG02148.hp2 |
intron_variant | MODIFIER | c.1961+13034T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42624124 | ||||||
| chr1:42624130
|
A | G | 4 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0005t0036g0309others(1): Show | 4 | HG00639.hp2 HG03209.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.1961+13040A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42624130 | ||||||
| chr1:42624209
|
C | A | 1 | a0001c0001t0001g0091 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.1962-13028C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42624209 | ||||||
| chr1:42624305
|
T | G | 4 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0005t0036g0309others(1): Show | 4 | HG00639.hp2 HG03209.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.1962-12932T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42624305 | ||||||
| chr1:42624437
|
A | G | 2 | a0001c0004t0004g0310a0001c0005t0036g0309 | 2 | HG02155.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.1962-12800A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42624437 | ||||||
| chr1:42624459
|
A | G | 8 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(5): Show | 8 | HG01167.hp2 HG01891.hp2 HG02970.hp2 others(5): Show |
intron_variant | MODIFIER | c.1962-12778A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42624459 | ||||||
| chr1:42624816
|
T | C | 1 | a0001c0004t0005g0227 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.1962-12421T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42624816 | ||||||
| chr1:42624922
|
C | G | 64 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(61): Show | 64 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(61): Show |
intron_variant | MODIFIER | c.1962-12315C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42624922 | ||||||
| chr1:42625011
|
C | G | 1 | a0003c0014t0028g0067 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.1962-12226C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42625011 | ||||||
| chr1:42625015
|
C | G | 4 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0005t0036g0309others(1): Show | 4 | HG00639.hp2 HG03209.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.1962-12222C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42625015 | ||||||
| chr1:42625034
|
CT | C | 4 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0005t0036g0309others(1): Show | 4 | HG00639.hp2 HG03209.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.1962-12195delT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42625034 | |||||
| chr1:42625160
|
T | C | 2 | a0002c0016t0020g0006a0002c0016t0020g0010 | 2 | HG03654.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.1962-12077T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42625160 | ||||||
| chr1:42625223
|
G | T | 20 | a0001c0001t0001g0082a0001c0001t0001g0085a0001c0001t0001g0147others(17): Show | 20 | HG00280.hp2 HG00558.hp2 HG02027.hp2 others(17): Show |
intron_variant | MODIFIER | c.1962-12014G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42625223 | ||||||
| chr1:42625239
|
TG | T | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG02055.hp2 HG02145.hp1 HG02965.hp2 others(1): Show |
intron_variant | MODIFIER | c.1962-11997delG | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42625239 | ||||||
| chr1:42625290
|
T | G | 4 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0005t0036g0309others(1): Show | 4 | HG00639.hp2 HG03209.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.1962-11947T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42625290 | ||||||
| chr1:42625297
|
G | T | 1 | a0006c0029t0039g0052 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1962-11940G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42625297 | ||||||
| chr1:42625326
|
TG | T | 28 | a0001c0001t0006g0171a0001c0001t0006g0173a0001c0001t0006g0176others(25): Show | 28 | HG00099.hp1 HG00741.hp2 HG01081.hp1 others(25): Show |
intron_variant | MODIFIER | c.1962-11910delG | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42625326 | ||||||
| chr1:42625407
|
A | G | 6 | a0001c0007t0005g0313a0001c0007t0005g0315a0001c0007t0005g0316others(3): Show | 6 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(3): Show |
intron_variant | MODIFIER | c.1962-11830A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42625407 | ||||||
| chr1:42625546
|
A | G | 74 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(71): Show | 74 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(71): Show |
intron_variant | MODIFIER | c.1962-11691A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42625546 | ||||||
| chr1:42625568
|
C | T | 12 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(9): Show | 12 | HG02055.hp2 HG02145.hp1 HG02559.hp1 others(9): Show |
intron_variant | MODIFIER | c.1962-11669C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42625568 | ||||||
| chr1:42625570
|
T | G | 1 | a0006c0029t0039g0052 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1962-11667T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42625570 | ||||||
| chr1:42625680
|
C | T | 4 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0005t0036g0309others(1): Show | 4 | HG00639.hp2 HG03209.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.1962-11557C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42625680 | ||||||
| chr1:42625718
|
A | G | 4 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0005t0036g0309others(1): Show | 4 | HG00639.hp2 HG03209.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.1962-11519A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42625718 | ||||||
| chr1:42625947
|
G | A | 64 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(61): Show | 64 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(61): Show |
intron_variant | MODIFIER | c.1962-11290G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42625947 | ||||||
| chr1:42626252
|
G | T | 1 | a0001c0001t0006g0189 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.1962-10985G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42626252 | ||||||
| chr1:42626286
|
A | G | 222 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(219): Show | 222 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(219): Show |
intron_variant | MODIFIER | c.1962-10951A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42626286 | ||||||
| chr1:42626303
|
C | T | 4 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0005t0036g0309others(1): Show | 4 | HG00639.hp2 HG03209.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.1962-10934C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42626303 | ||||||
| chr1:42626617
|
T | C | 1 | a0001c0001t0019g0167 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.1962-10620T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42626617 | ||||||
| chr1:42626672
|
T | C | 3 | a0003c0008t0012g0262a0003c0008t0012g0265a0003c0008t0037g0263 | 3 | HG01243.hp1 HG02896.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.1962-10565T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42626672 | ||||||
| chr1:42626751
|
C | T | 4 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0005t0036g0309others(1): Show | 4 | HG00639.hp2 HG03209.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.1962-10486C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42626751 | ||||||
| chr1:42626914
|
C | T | 33 | a0001c0001t0006g0171a0001c0001t0006g0173a0001c0001t0006g0176others(30): Show | 33 | HG00099.hp1 HG00741.hp2 HG01081.hp1 others(30): Show |
intron_variant | MODIFIER | c.1962-10323C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42626914 | ||||||
| chr1:42626915
|
G | A | 2 | a0001c0005t0008g0202a0001c0005t0008g0203 | 2 | HG03209.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.1962-10322G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42626915 | ||||||
| chr1:42626958
|
G | A | 4 | a0003c0012t0048g0062a0003c0012t0049g0061a0003c0015t0038g0305others(1): Show | 4 | HG01167.hp2 HG03471.hp2 NA20129.hp2 others(1): Show |
intron_variant | MODIFIER | c.1962-10279G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42626958 | ||||||
| chr1:42627156
|
A | T | 1 | a0001c0005t0036g0309 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1962-10081A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42627156 | ||||||
| chr1:42627219
|
T | C | 4 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0005t0036g0309others(1): Show | 4 | HG00639.hp2 HG03209.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.1962-10018T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42627219 | ||||||
| chr1:42627282
|
A | G | 4 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(1): Show | 4 | HG01891.hp2 HG02970.hp2 NA18522.hp2 others(1): Show |
intron_variant | MODIFIER | c.1962-9955A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42627282 | ||||||
| chr1:42627298
|
C | T | 4 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0005t0036g0309others(1): Show | 4 | HG00639.hp2 HG03209.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.1962-9939C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42627298 | ||||||
| chr1:42627352
|
T | C | 1 | a0001c0005t0036g0309 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1962-9885T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42627352 | ||||||
| chr1:42627395
|
A | G | 2 | a0002c0016t0020g0006a0002c0016t0020g0010 | 2 | HG03654.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.1962-9842A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42627395 | ||||||
| chr1:42627400
|
T | C | 4 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0005t0036g0309others(1): Show | 4 | HG00639.hp2 HG03209.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.1962-9837T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42627400 | ||||||
| chr1:42627521
|
A | G | 52 | a0001c0001t0006g0171a0001c0001t0006g0173a0001c0001t0006g0176others(49): Show | 52 | HG00099.hp1 HG00741.hp2 HG01081.hp1 others(49): Show |
intron_variant | MODIFIER | c.1962-9716A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42627521 | ||||||
| chr1:42627592
|
A | G | 8 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0005t0036g0309others(5): Show | 8 | HG00639.hp2 HG01167.hp2 HG03209.hp2 others(5): Show |
intron_variant | MODIFIER | c.1962-9645A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42627592 | ||||||
| chr1:42627595
|
C | T | 1 | a0001c0001t0001g0139 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.1962-9642C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42627595 | ||||||
| chr1:42627620
|
T | G | 7 | a0001c0005t0008g0202a0001c0005t0008g0203a0003c0012t0048g0062others(4): Show | 7 | HG00639.hp2 HG01167.hp2 HG03209.hp2 others(4): Show |
intron_variant | MODIFIER | c.1962-9617T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42627620 | ||||||
| chr1:42627663
|
A | G | 35 | a0001c0001t0006g0100a0001c0001t0006g0143a0001c0002t0044g0257others(32): Show | 35 | HG00438.hp1 HG00673.hp1 HG01069.hp2 others(32): Show |
intron_variant | MODIFIER | c.1962-9574A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42627663 | ||||||
| chr1:42627696
|
G | A | 5 | a0001c0002t0002g0211a0001c0002t0002g0218a0001c0002t0002g0220others(2): Show | 5 | NA18947.hp2 NA18959.hp2 NA19009.hp1 others(2): Show |
intron_variant | MODIFIER | c.1962-9541G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42627696 | ||||||
| chr1:42627786
|
G | C | 1 | a0002c0003t0003g0035 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.1962-9451G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42627786 | ||||||
| chr1:42627790
|
C | G | 2 | a0002c0016t0020g0006a0002c0016t0020g0010 | 2 | HG03654.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.1962-9447C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42627790 | ||||||
| chr1:42627829
|
G | A | 2 | a0001c0002t0002g0248a0001c0002t0021g0249 | 2 | NA18949.hp2 NA18971.hp2 |
intron_variant | MODIFIER | c.1962-9408G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42627829 | ||||||
| chr1:42627889
|
C | T | 130 | a0001c0001t0006g0171a0001c0001t0006g0173a0001c0001t0006g0176others(127): Show | 130 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(127): Show |
intron_variant | MODIFIER | c.1962-9348C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42627889 | ||||||
| chr1:42627957
|
C | G | 35 | a0001c0001t0006g0100a0001c0001t0006g0143a0001c0002t0044g0257others(32): Show | 35 | HG00438.hp1 HG00673.hp1 HG01069.hp2 others(32): Show |
intron_variant | MODIFIER | c.1962-9280C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42627957 | ||||||
| chr1:42628334
|
T | C | 4 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(1): Show | 4 | HG01891.hp2 HG02970.hp2 NA18522.hp2 others(1): Show |
intron_variant | MODIFIER | c.1962-8903T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42628334 | ||||||
| chr1:42628360
|
C | T | 5 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0079others(2): Show | 5 | HG02559.hp1 HG02809.hp1 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.1962-8877C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42628360 | ||||||
| chr1:42628627
|
A | G | 2 | a0001c0001t0001g0107a0001c0001t0001g0142 | 2 | HG01069.hp1 HG01071.hp1 |
intron_variant | MODIFIER | c.1962-8610A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42628627 | ||||||
| chr1:42628785
|
T | C | 2 | a0002c0016t0020g0006a0002c0016t0020g0010 | 2 | HG03654.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.1962-8452T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42628785 | ||||||
| chr1:42628994
|
T | C | 2 | a0002c0016t0020g0006a0002c0016t0020g0010 | 2 | HG03654.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.1962-8243T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42628994 | ||||||
| chr1:42629100
|
T | C | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1962-8137T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42629100 | ||||||
| chr1:42629110
|
A | G | 4 | a0001c0001t0010g0106a0001c0010t0005g0278a0001c0010t0035g0274others(1): Show | 4 | HG01074.hp2 HG02015.hp2 NA18940.hp2 others(1): Show |
intron_variant | MODIFIER | c.1962-8127A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42629110 | ||||||
| chr1:42629146
|
A | T | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG02055.hp2 HG02145.hp1 HG02965.hp2 others(1): Show |
intron_variant | MODIFIER | c.1962-8091A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42629146 | ||||||
| chr1:42629655
|
G | A | 1 | a0001c0001t0006g0173 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1962-7582G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42629655 | ||||||
| chr1:42629807
|
G | C | 1 | a0001c0001t0001g0198 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1962-7430G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42629807 | ||||||
| chr1:42629837
|
A | T | 5 | a0001c0006t0008g0314a0001c0006t0008g0318a0001c0006t0008g0321others(2): Show | 5 | HG02622.hp1 HG02717.hp1 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.1962-7400A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42629837 | ||||||
| chr1:42629901
|
G | A | 11 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(8): Show | 11 | HG02055.hp2 HG02145.hp1 HG02559.hp1 others(8): Show |
intron_variant | MODIFIER | c.1962-7336G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42629901 | ||||||
| chr1:42629969
|
A | AT | 8 | a0001c0001t0001g0089a0001c0001t0001g0097a0001c0001t0001g0098others(5): Show | 8 | HG00673.hp2 HG02056.hp1 HG02300.hp1 others(5): Show |
intron_variant | MODIFIER | c.1962-7245dupT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42629969 | |||||
| chr1:42629969
|
AT | A | 56 | a0001c0001t0001g0065a0001c0001t0001g0066a0001c0001t0001g0083others(53): Show | 56 | HG00323.hp1 HG00323.hp2 HG00609.hp2 others(53): Show |
intron_variant | MODIFIER | c.1962-7245delT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42629969 | |||||
| chr1:42629969
|
ATT | A | 108 | a0001c0001t0006g0171a0001c0001t0006g0173a0001c0001t0006g0176others(105): Show | 108 | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(105): Show |
intron_variant | MODIFIER | c.1962-7246_1962-724 others(6): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42629969 | |||||
| chr1:42629969
|
ATTT | A | 46 | a0001c0001t0006g0100a0001c0001t0006g0143a0001c0001t0006g0177others(43): Show | 46 | HG00099.hp2 HG00673.hp1 HG01069.hp2 others(43): Show |
intron_variant | MODIFIER | c.1962-7247_1962-724 others(7): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42629969 | |||||
| chr1:42629969
|
ATTTT | A | 10 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0076others(7): Show | 10 | HG02055.hp2 HG02145.hp1 HG02486.hp1 others(7): Show |
intron_variant | MODIFIER | c.1962-7248_1962-724 others(8): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42629969 | |||||
| chr1:42629969
|
ATTTTT | A | 11 | a0001c0001t0001g0075a0001c0009t0017g0055a0001c0009t0017g0056others(8): Show | 11 | HG01167.hp2 HG01891.hp2 HG02970.hp2 others(8): Show |
intron_variant | MODIFIER | c.1962-7249_1962-724 others(9): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42629969 | |||||
| chr1:42630250
|
C | T | 1 | a0001c0010t0035g0274 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.1962-6987C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42630250 | ||||||
| chr1:42630255
|
G | A | 43 | a0001c0001t0010g0102a0001c0001t0010g0104a0001c0001t0010g0196others(40): Show | 43 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(40): Show |
intron_variant | MODIFIER | c.1962-6982G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42630255 | ||||||
| chr1:42630315
|
G | A | 1 | a0002c0003t0005g0023 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.1962-6922G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42630315 | ||||||
| chr1:42630530
|
G | A | 11 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(8): Show | 11 | HG02055.hp2 HG02145.hp1 HG02559.hp1 others(8): Show |
intron_variant | MODIFIER | c.1962-6707G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42630530 | ||||||
| chr1:42630545
|
G | C | 1 | a0001c0001t0011g0092 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.1962-6692G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42630545 | ||||||
| chr1:42630602
|
G | A | 11 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(8): Show | 11 | HG02055.hp2 HG02145.hp1 HG02559.hp1 others(8): Show |
intron_variant | MODIFIER | c.1962-6635G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42630602 | ||||||
| chr1:42630898
|
C | T | 3 | a0001c0004t0004g0199a0001c0004t0004g0200a0001c0004t0015g0201 | 3 | HG01069.hp2 HG02145.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.1962-6339C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42630898 | ||||||
| chr1:42631386
|
C | T | 1 | a0001c0001t0018g0095 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.1962-5851C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42631386 | ||||||
| chr1:42631493
|
C | T | 1 | a0001c0002t0002g0218 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.1962-5744C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42631493 | ||||||
| chr1:42631905
|
AAAAATGC others(5): Show |
A | 1 | a0001c0021t0045g0049 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1962-5329_1962-531 others(16): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42631905 | |||||
| chr1:42631963
|
C | T | 1 | a0001c0001t0006g0176 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1962-5274C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42631963 | ||||||
| chr1:42632036
|
T | C | 1 | a0003c0014t0028g0067 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.1962-5201T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42632036 | ||||||
| chr1:42632079
|
C | G | 76 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(73): Show | 76 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(73): Show |
intron_variant | MODIFIER | c.1962-5158C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42632079 | ||||||
| chr1:42632080
|
T | C | 76 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(73): Show | 76 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(73): Show |
intron_variant | MODIFIER | c.1962-5157T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42632080 | ||||||
| chr1:42632163
|
T | C | 140 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(137): Show | 140 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(137): Show |
intron_variant | MODIFIER | c.1962-5074T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42632163 | ||||||
| chr1:42632223
|
A | G | 76 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(73): Show | 76 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(73): Show |
intron_variant | MODIFIER | c.1962-5014A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42632223 | ||||||
| chr1:42632334
|
G | A | 65 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(62): Show | 65 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(62): Show |
intron_variant | MODIFIER | c.1962-4903G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42632334 | ||||||
| chr1:42632388
|
A | G | 1 | a0001c0001t0023g0128 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.1962-4849A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42632388 | ||||||
| chr1:42632394
|
G | A | 1 | a0001c0001t0001g0133 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.1962-4843G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42632394 | ||||||
| chr1:42632399
|
G | A | 3 | a0001c0001t0006g0100a0001c0004t0022g0059a0001c0004t0022g0060 | 3 | HG02615.hp2 HG02622.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.1962-4838G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42632399 | ||||||
| chr1:42632423
|
T | C | 1 | a0001c0001t0006g0186 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1962-4814T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42632423 | ||||||
| chr1:42632434
|
T | C | 8 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(5): Show | 8 | HG01167.hp2 HG01891.hp2 HG02970.hp2 others(5): Show |
intron_variant | MODIFIER | c.1962-4803T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42632434 | ||||||
| chr1:42632486
|
G | A | 4 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(1): Show | 4 | HG01891.hp2 HG02970.hp2 NA18522.hp2 others(1): Show |
intron_variant | MODIFIER | c.1962-4751G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42632486 | ||||||
| chr1:42632534
|
T | C | 76 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(73): Show | 76 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(73): Show |
intron_variant | MODIFIER | c.1962-4703T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42632534 | ||||||
| chr1:42632616
|
C | T | 3 | a0001c0004t0004g0199a0001c0004t0004g0200a0001c0004t0015g0201 | 3 | HG01069.hp2 HG02145.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.1962-4621C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42632616 | ||||||
| chr1:42632620
|
C | T | 2 | a0001c0002t0002g0219a0001c0002t0002g0241 | 2 | HG00735.hp1 HG02735.hp1 |
intron_variant | MODIFIER | c.1962-4617C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42632620 | ||||||
| chr1:42632701
|
A | G | 76 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(73): Show | 76 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(73): Show |
intron_variant | MODIFIER | c.1962-4536A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42632701 | ||||||
| chr1:42632760
|
CA | C | 219 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(216): Show | 219 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(216): Show |
intron_variant | MODIFIER | c.1962-4464delA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42632760 | |||||
| chr1:42632829
|
C | CA | 3 | a0003c0012t0048g0062a0003c0012t0049g0061a0003c0015t0038g0305 | 3 | HG01167.hp2 HG03471.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.1962-4407dupA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42632829 | |||||
| chr1:42632966
|
T | C | 222 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(219): Show | 222 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(219): Show |
intron_variant | MODIFIER | c.1962-4271T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42632966 | ||||||
| chr1:42633056
|
C | T | 33 | a0001c0001t0006g0171a0001c0001t0006g0173a0001c0001t0006g0176others(30): Show | 33 | HG00099.hp1 HG00741.hp2 HG01081.hp1 others(30): Show |
intron_variant | MODIFIER | c.1962-4181C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42633056 | ||||||
| chr1:42633134
|
C | T | 76 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(73): Show | 76 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(73): Show |
intron_variant | MODIFIER | c.1962-4103C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42633134 | ||||||
| chr1:42633408
|
T | G | 1 | a0002c0003t0003g0035 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.1962-3829T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42633408 | ||||||
| chr1:42633414
|
T | C | 39 | a0001c0001t0006g0171a0001c0001t0006g0173a0001c0001t0006g0176others(36): Show | 39 | HG00099.hp1 HG00741.hp2 HG01081.hp1 others(36): Show |
intron_variant | MODIFIER | c.1962-3823T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42633414 | ||||||
| chr1:42633583
|
C | T | 4 | a0001c0021t0045g0049a0004c0011t0009g0003a0004c0011t0009g0004others(1): Show | 4 | HG02896.hp1 HG03195.hp1 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.1962-3654C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42633583 | ||||||
| chr1:42633600
|
C | A | 1 | a0001c0001t0001g0175 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.1962-3637C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42633600 | ||||||
| chr1:42633707
|
C | T | 2 | a0001c0005t0008g0202a0001c0005t0008g0203 | 2 | HG03209.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.1962-3530C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42633707 | ||||||
| chr1:42633730
|
C | T | 1 | a0001c0001t0001g0166 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.1962-3507C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42633730 | ||||||
| chr1:42633771
|
G | C | 8 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(5): Show | 8 | HG01167.hp2 HG01891.hp2 HG02970.hp2 others(5): Show |
intron_variant | MODIFIER | c.1962-3466G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42633771 | ||||||
| chr1:42633865
|
T | G | 2 | a0001c0004t0003g0237a0001c0004t0003g0255 | 2 | HG01891.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.1962-3372T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42633865 | ||||||
| chr1:42633903
|
G | A | 76 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(73): Show | 76 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(73): Show |
intron_variant | MODIFIER | c.1962-3334G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42633903 | ||||||
| chr1:42634041
|
C | T | 1 | a0001c0001t0006g0143 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1962-3196C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42634041 | ||||||
| chr1:42634091
|
A | G | 2 | a0001c0001t0001g0147a0001c0001t0001g0148 | 2 | HG00280.hp2 NA19054.hp1 |
intron_variant | MODIFIER | c.1962-3146A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42634091 | ||||||
| chr1:42634147
|
C | T | 1 | a0001c0021t0045g0049 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1962-3090C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42634147 | ||||||
| chr1:42634249
|
C | CA | 14 | a0001c0001t0001g0070a0001c0001t0001g0089a0001c0001t0001g0098others(11): Show | 14 | HG00423.hp1 HG00621.hp1 HG00673.hp2 others(11): Show |
intron_variant | MODIFIER | c.1962-2963dupA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42634249 | |||||
| chr1:42634249
|
CA | C | 61 | a0001c0001t0001g0082a0001c0001t0001g0135a0001c0001t0001g0160others(58): Show | 61 | HG00099.hp1 HG00558.hp2 HG00741.hp2 others(58): Show |
intron_variant | MODIFIER | c.1962-2963delA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42634249 | |||||
| chr1:42634249
|
CAA | C | 91 | a0001c0001t0006g0100a0001c0001t0006g0143a0001c0001t0010g0102others(88): Show | 91 | HG00323.hp2 HG00438.hp1 HG00609.hp2 others(88): Show |
intron_variant | MODIFIER | c.1962-2964_1962-296 others(6): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42634249 | |||||
| chr1:42634249
|
CAAAA | C | 17 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(14): Show | 17 | HG01981.hp2 HG02055.hp2 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.1962-2966_1962-296 others(8): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42634249 | |||||
| chr1:42634249
|
CAAAAA | C | 58 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0211others(55): Show | 58 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(55): Show |
intron_variant | MODIFIER | c.1962-2967_1962-296 others(9): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42634249 | |||||
| chr1:42634255
|
A | C | 29 | a0001c0001t0006g0171a0001c0001t0006g0173a0001c0001t0006g0176others(26): Show | 29 | HG00099.hp1 HG00741.hp2 HG01081.hp1 others(26): Show |
intron_variant | MODIFIER | c.1962-2982A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42634255 | ||||||
| chr1:42634260
|
A | C | 46 | a0001c0001t0006g0171a0001c0001t0006g0173a0001c0001t0006g0176others(43): Show | 46 | HG00099.hp1 HG00741.hp2 HG01081.hp1 others(43): Show |
intron_variant | MODIFIER | c.1962-2977A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42634260 | ||||||
| chr1:42634264
|
A | C | 1 | a0002c0003t0003g0053 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1962-2973A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42634264 | ||||||
| chr1:42634265
|
A | C | 59 | a0001c0001t0006g0171a0001c0001t0006g0173a0001c0001t0006g0176others(56): Show | 59 | HG00099.hp1 HG00639.hp2 HG00741.hp2 others(56): Show |
intron_variant | MODIFIER | c.1962-2972A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42634265 | ||||||
| chr1:42634266
|
A | C | 4 | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0157others(1): Show | 4 | NA18944.hp1 NA18961.hp1 NA18986.hp1 others(1): Show |
intron_variant | MODIFIER | c.1962-2971A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42634266 | ||||||
| chr1:42634270
|
A | C | 147 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(144): Show | 147 | HG00099.hp1 HG00323.hp2 HG00438.hp1 others(144): Show |
intron_variant | MODIFIER | c.1962-2967A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42634270 | ||||||
| chr1:42634275
|
C | A | 1 | a0001c0001t0001g0069 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.1962-2962C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42634275 | ||||||
| chr1:42634460
|
T | C | 1 | a0001c0001t0001g0113 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.1962-2777T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42634460 | ||||||
| chr1:42634561
|
G | A | 222 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(219): Show | 222 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(219): Show |
intron_variant | MODIFIER | c.1962-2676G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42634561 | ||||||
| chr1:42634868
|
A | T | 2 | a0001c0001t0011g0194a0001c0001t0013g0195 | 2 | HG01515.hp1 HG02148.hp1 |
intron_variant | MODIFIER | c.1962-2369A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42634868 | ||||||
| chr1:42635007
|
A | G | 2 | a0002c0003t0003g0026a0002c0003t0014g0038 | 2 | HG01928.hp2 HG02148.hp2 |
intron_variant | MODIFIER | c.1962-2230A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42635007 | ||||||
| chr1:42635011
|
C | T | 1 | a0002c0003t0005g0024 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.1962-2226C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42635011 | ||||||
| chr1:42635051
|
T | A | 56 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(53): Show | 56 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(53): Show |
intron_variant | MODIFIER | c.1962-2186T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42635051 | ||||||
| chr1:42635339
|
C | G | 65 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(62): Show | 65 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(62): Show |
intron_variant | MODIFIER | c.1962-1898C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42635339 | ||||||
| chr1:42635450
|
T | C | 1 | a0003c0024t0012g0290 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1962-1787T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42635450 | ||||||
| chr1:42635453
|
T | C | 3 | a0001c0002t0002g0205a0001c0002t0002g0207a0001c0002t0002g0287 | 3 | NA18612.hp2 NA18944.hp2 NA19075.hp2 |
intron_variant | MODIFIER | c.1962-1784T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42635453 | ||||||
| chr1:42635599
|
G | A | 65 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(62): Show | 65 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(62): Show |
intron_variant | MODIFIER | c.1962-1638G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42635599 | ||||||
| chr1:42635670
|
G | A | 76 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(73): Show | 76 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(73): Show |
intron_variant | MODIFIER | c.1962-1567G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42635670 | ||||||
| chr1:42635693
|
C | T | 4 | a0001c0005t0036g0309a0004c0011t0009g0003a0004c0011t0009g0004others(1): Show | 4 | HG02896.hp1 HG03195.hp1 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.1962-1544C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42635693 | ||||||
| chr1:42635725
|
A | G | 32 | a0001c0001t0006g0100a0001c0004t0004g0199a0001c0004t0004g0200others(29): Show | 32 | HG00438.hp1 HG00673.hp1 HG01069.hp2 others(29): Show |
intron_variant | MODIFIER | c.1962-1512A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42635725 | ||||||
| chr1:42635807
|
C | CA | 9 | a0001c0001t0001g0150a0001c0001t0006g0182a0001c0001t0030g0146others(6): Show | 9 | HG00423.hp1 HG01884.hp1 HG02055.hp1 others(6): Show |
intron_variant | MODIFIER | c.1962-1414dupA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42635807 | |||||
| chr1:42635807
|
CA | C | 87 | a0001c0001t0001g0068a0001c0001t0001g0072a0001c0001t0001g0073others(84): Show | 87 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(84): Show |
intron_variant | MODIFIER | c.1962-1414delA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42635807 | |||||
| chr1:42635824
|
T | A | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1962-1413T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42635824 | ||||||
| chr1:42635886
|
T | C | 2 | a0001c0001t0001g0137a0001c0001t0018g0095 | 2 | HG03654.hp2 HG03688.hp2 |
intron_variant | MODIFIER | c.1962-1351T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42635886 | ||||||
| chr1:42635891
|
T | C | 223 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(220): Show | 223 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(220): Show |
intron_variant | MODIFIER | c.1962-1346T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42635891 | ||||||
| chr1:42635900
|
C | T | 11 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(8): Show | 11 | HG02055.hp2 HG02145.hp1 HG02559.hp1 others(8): Show |
intron_variant | MODIFIER | c.1962-1337C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42635900 | ||||||
| chr1:42635947
|
G | A | 1 | a0001c0001t0001g0135 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1962-1290G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42635947 | ||||||
| chr1:42636113
|
A | G | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1962-1124A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42636113 | ||||||
| chr1:42636144
|
A | G | 76 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(73): Show | 76 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(73): Show |
intron_variant | MODIFIER | c.1962-1093A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42636144 | ||||||
| chr1:42636299
|
G | A | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1962-938G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42636299 | ||||||
| chr1:42636312
|
G | A | 76 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(73): Show | 76 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(73): Show |
intron_variant | MODIFIER | c.1962-925G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42636312 | ||||||
| chr1:42636355
|
A | G | 76 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(73): Show | 76 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(73): Show |
intron_variant | MODIFIER | c.1962-882A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42636355 | ||||||
| chr1:42636374
|
C | A | 40 | a0001c0001t0010g0102a0001c0001t0010g0104a0001c0001t0010g0196others(37): Show | 40 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(37): Show |
intron_variant | MODIFIER | c.1962-863C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42636374 | ||||||
| chr1:42636440
|
T | C | 28 | a0001c0001t0006g0171a0001c0001t0006g0173a0001c0001t0006g0176others(25): Show | 28 | HG00099.hp1 HG00741.hp2 HG01081.hp1 others(25): Show |
intron_variant | MODIFIER | c.1962-797T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42636440 | ||||||
| chr1:42636676
|
G | C | 1 | a0001c0001t0030g0146 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.1962-561G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42636676 | ||||||
| chr1:42636685
|
A | T | 11 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(8): Show | 11 | HG01884.hp2 HG02109.hp2 HG02559.hp2 others(8): Show |
intron_variant | MODIFIER | c.1962-552A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42636685 | ||||||
| chr1:42636696
|
G | A | 3 | a0001c0004t0005g0227a0001c0004t0005g0238a0001c0010t0005g0277 | 3 | NA18945.hp1 NA18950.hp1 NA18977.hp1 |
intron_variant | MODIFIER | c.1962-541G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42636696 | ||||||
| chr1:42636703
|
C | G | 6 | a0001c0002t0002g0246a0001c0002t0002g0247a0001c0002t0002g0248others(3): Show | 6 | HG00621.hp2 NA18949.hp2 NA18971.hp2 others(3): Show |
intron_variant | MODIFIER | c.1962-534C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42636703 | ||||||
| chr1:42636724
|
T | C | 11 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(8): Show | 11 | HG02055.hp2 HG02145.hp1 HG02559.hp1 others(8): Show |
intron_variant | MODIFIER | c.1962-513T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42636724 | ||||||
| chr1:42636743
|
G | A | 1 | a0001c0001t0001g0139 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.1962-494G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42636743 | ||||||
| chr1:42636835
|
A | G | 293 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(290): Show | 294 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(291): Show |
intron_variant | MODIFIER | c.1962-402A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42636835 | ||||||
| chr1:42636896
|
G | A | 76 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(73): Show | 76 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(73): Show |
intron_variant | MODIFIER | c.1962-341G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42636896 | ||||||
| chr1:42636944
|
C | T | 29 | a0001c0001t0006g0171a0001c0001t0006g0173a0001c0001t0006g0176others(26): Show | 29 | HG00099.hp1 HG00741.hp2 HG01081.hp1 others(26): Show |
intron_variant | MODIFIER | c.1962-293C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42636944 | ||||||
| chr1:42636965
|
C | CA | 61 | a0001c0001t0001g0071a0001c0001t0001g0085a0001c0001t0001g0101others(58): Show | 61 | HG00323.hp2 HG00609.hp2 HG00639.hp2 others(58): Show |
intron_variant | MODIFIER | c.1962-245dupA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42636965 | |||||
| chr1:42636965
|
C | CAA | 50 | a0001c0001t0006g0171a0001c0001t0006g0176a0001c0001t0006g0177others(47): Show | 50 | HG00099.hp1 HG00741.hp2 HG01069.hp2 others(47): Show |
intron_variant | MODIFIER | c.1962-246_1962-245d others(4): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42636965 | |||||
| chr1:42636965
|
C | CAAA | 12 | a0001c0001t0001g0076a0001c0001t0006g0173a0001c0001t0011g0194others(9): Show | 12 | HG01109.hp1 HG01515.hp1 HG02145.hp2 others(9): Show |
intron_variant | MODIFIER | c.1962-247_1962-245d others(5): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42636965 | |||||
| chr1:42636965
|
C | CAAAA | 8 | a0001c0001t0001g0072a0001c0001t0001g0075a0001c0001t0001g0077others(5): Show | 8 | HG02055.hp2 HG02145.hp1 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.1962-248_1962-245d others(6): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42636965 | |||||
| chr1:42636965
|
C | CAAAAAA | 36 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(33): Show | 36 | HG00099.hp2 HG00408.hp1 HG00423.hp2 others(33): Show |
intron_variant | MODIFIER | c.1962-250_1962-245d others(8): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42636965 | |||||
| chr1:42636965
|
C | CAAAAAAA | 21 | a0001c0002t0002g0212a0001c0002t0002g0220a0001c0002t0002g0225others(18): Show | 21 | HG00558.hp1 HG01167.hp1 HG02027.hp1 others(18): Show |
intron_variant | MODIFIER | c.1962-251_1962-245d others(9): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42636965 | |||||
| chr1:42636965
|
CA | C | 31 | a0001c0001t0001g0065a0001c0001t0001g0066a0001c0001t0001g0086others(28): Show | 31 | HG00438.hp1 HG00673.hp1 HG01169.hp1 others(28): Show |
intron_variant | MODIFIER | c.1962-245delA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42636965 | |||||
| chr1:42636965
|
CAAAAAAA others(3): Show |
C | 1 | a0001c0005t0036g0309 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1962-254_1962-245d others(12): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42636965 | |||||
| chr1:42636965
|
CAAAAAAA others(6): Show |
C | 1 | a0001c0001t0001g0147 | 1 | NA19054.hp1 | intron_variant | MODIFIER | c.1962-257_1962-245d others(15): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | 42636965 | |||||
| chr1:42637001
|
T | G | 1 | a0001c0004t0005g0238 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.1962-236T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42637001 | ||||||
| chr1:42637047
|
A | G | 1 | a0002c0003t0003g0044 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.1962-190A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42637047 | ||||||
| chr1:42637121
|
G | A | 76 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(73): Show | 76 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(73): Show |
intron_variant | MODIFIER | c.1962-116G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42637121 | ||||||
| chr1:42637173
|
T | C | 65 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(62): Show | 65 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(62): Show |
intron_variant | MODIFIER | c.1962-64T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 15/20 | chr1 | 42637173 | ||||||
| chr1:42637397
|
G | A | 1 | a0002c0003t0009g0007 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.2103+19G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42637397 | ||||||
| chr1:42637634
|
T | A | 1 | a0001c0005t0008g0202 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.2103+256T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42637634 | ||||||
| chr1:42637655
|
A | T | 11 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(8): Show | 11 | HG02055.hp2 HG02145.hp1 HG02559.hp1 others(8): Show |
intron_variant | MODIFIER | c.2103+277A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42637655 | ||||||
| chr1:42637676
|
A | C | 1 | a0001c0007t0005g0313 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.2103+298A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42637676 | ||||||
| chr1:42638185
|
G | A | 5 | a0001c0001t0001g0069a0001c0001t0001g0070a0001c0001t0001g0071others(2): Show | 5 | HG00735.hp2 HG00741.hp1 HG01071.hp2 others(2): Show |
intron_variant | MODIFIER | c.2103+807G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42638185 | ||||||
| chr1:42638314
|
T | C | 1 | a0001c0001t0001g0137 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.2103+936T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42638314 | ||||||
| chr1:42638442
|
C | CT | 29 | a0001c0001t0006g0171a0001c0001t0006g0173a0001c0001t0006g0176others(26): Show | 29 | HG00099.hp1 HG00741.hp2 HG01081.hp1 others(26): Show |
intron_variant | MODIFIER | c.2103+1071dupT | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr1 | 42638442 | |||||
| chr1:42638559
|
C | CA | 7 | a0001c0001t0001g0065a0001c0001t0001g0124a0001c0001t0007g0093others(4): Show | 7 | HG01167.hp2 HG01433.hp1 HG02257.hp2 others(4): Show |
intron_variant | MODIFIER | c.2103+1198dupA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr1 | 42638559 | |||||
| chr1:42638559
|
CA | C | 197 | a0001c0001t0001g0073a0001c0001t0001g0075a0001c0001t0001g0076others(194): Show | 197 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(194): Show |
intron_variant | MODIFIER | c.2103+1198delA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr1 | 42638559 | |||||
| chr1:42638602
|
G | A | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.2103+1224G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42638602 | ||||||
| chr1:42638939
|
G | T | 1 | a0005c0020t0008g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.2103+1561G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42638939 | ||||||
| chr1:42638984
|
C | T | 1 | a0001c0004t0004g0200 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.2103+1606C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42638984 | ||||||
| chr1:42639089
|
G | A | 12 | a0001c0001t0001g0198a0001c0005t0005g0300a0001c0005t0005g0301others(9): Show | 12 | HG01884.hp2 HG02109.hp2 HG02559.hp2 others(9): Show |
intron_variant | MODIFIER | c.2103+1711G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42639089 | ||||||
| chr1:42639238
|
CACACAGA others(3): Show |
C | 29 | a0001c0001t0006g0171a0001c0001t0006g0173a0001c0001t0006g0176others(26): Show | 29 | HG00099.hp1 HG00741.hp2 HG01081.hp1 others(26): Show |
intron_variant | MODIFIER | c.2103+1871_2103+188 others(14): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr1 | 42639238 | |||||
| chr1:42639281
|
G | A | 76 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(73): Show | 76 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(73): Show |
intron_variant | MODIFIER | c.2103+1903G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42639281 | ||||||
| chr1:42639344
|
C | A | 11 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(8): Show | 11 | HG02055.hp2 HG02145.hp1 HG02559.hp1 others(8): Show |
intron_variant | MODIFIER | c.2103+1966C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42639344 | ||||||
| chr1:42639414
|
A | G | 2 | a0001c0001t0006g0189a0001c0001t0006g0190 | 2 | HG00099.hp1 HG01993.hp2 |
intron_variant | MODIFIER | c.2103+2036A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42639414 | ||||||
| chr1:42639725
|
G | A | 1 | a0001c0004t0009g0272 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.2103+2347G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42639725 | ||||||
| chr1:42639966
|
C | CA | 14 | a0001c0002t0002g0251a0001c0002t0002g0252a0001c0002t0002g0260others(11): Show | 14 | HG00408.hp1 HG00423.hp2 HG02109.hp2 others(11): Show |
intron_variant | MODIFIER | c.2104-2489dupA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr1 | 42639966 | |||||
| chr1:42639966
|
CA | C | 185 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(182): Show | 186 | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(183): Show |
intron_variant | MODIFIER | c.2104-2489delA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr1 | 42639966 | |||||
| chr1:42639966
|
CAA | C | 8 | a0001c0001t0001g0115a0001c0004t0004g0236a0001c0004t0004g0280others(5): Show | 8 | HG00673.hp1 HG01975.hp2 HG02129.hp2 others(5): Show |
intron_variant | MODIFIER | c.2104-2490_2104-248 others(6): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr1 | 42639966 | |||||
| chr1:42640048
|
C | T | 35 | a0001c0001t0006g0100a0001c0001t0006g0143a0001c0001t0006g0181others(32): Show | 35 | HG00438.hp1 HG00673.hp1 HG00741.hp2 others(32): Show |
intron_variant | MODIFIER | c.2104-2425C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42640048 | ||||||
| chr1:42640648
|
C | T | 1 | a0001c0004t0004g0297 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.2104-1825C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42640648 | ||||||
| chr1:42640680
|
G | GGTCA | 38 | a0001c0001t0006g0171a0001c0001t0006g0173a0001c0001t0006g0176others(35): Show | 38 | HG00099.hp1 HG00741.hp2 HG01081.hp1 others(35): Show |
intron_variant | MODIFIER | c.2104-1791_2104-178 others(8): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr1 | 42640680 | |||||
| chr1:42640804
|
G | A | 1 | a0001c0021t0045g0049 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2104-1669G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42640804 | ||||||
| chr1:42640843
|
G | A | 1 | a0001c0002t0021g0256 | 1 | NA18961.hp2 | intron_variant | MODIFIER | c.2104-1630G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42640843 | ||||||
| chr1:42640871
|
G | A | 2 | a0001c0004t0003g0291a0001c0004t0009g0292 | 2 | HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.2104-1602G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42640871 | ||||||
| chr1:42640964
|
G | C | 1 | a0001c0001t0007g0165 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.2104-1509G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42640964 | ||||||
| chr1:42641215
|
T | G | 1 | a0001c0005t0008g0203 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2104-1258T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42641215 | ||||||
| chr1:42641215
|
T | TGTGTG | 3 | a0001c0001t0001g0088a0001c0001t0001g0152a0001c0001t0010g0105 | 3 | HG01934.hp2 HG02071.hp1 NA19087.hp1 |
intron_variant | MODIFIER | c.2104-1258_2104-125 others(9): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42641215 | ||||||
| chr1:42641215
|
T | TGTGTGTG others(4): Show |
1 | a0004c0011t0009g0005 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.2104-1258_2104-125 others(15): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42641215 | ||||||
| chr1:42641215
|
T | TTG | 40 | a0001c0001t0001g0065a0001c0001t0001g0066a0001c0001t0001g0084others(37): Show | 40 | HG00280.hp2 HG00735.hp1 HG00741.hp2 others(37): Show |
intron_variant | MODIFIER | c.2104-1213_2104-121 others(6): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr1 | 42641215 | |||||
| chr1:42641215
|
T | TTGTG | 24 | a0001c0001t0001g0082a0001c0001t0001g0091a0001c0001t0001g0097others(21): Show | 24 | HG01069.hp1 HG01071.hp1 HG01099.hp2 others(21): Show |
intron_variant | MODIFIER | c.2104-1215_2104-121 others(8): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr1 | 42641215 | |||||
| chr1:42641215
|
T | TTGTGTG | 5 | a0001c0001t0001g0153a0001c0001t0025g0130a0001c0004t0005g0227others(2): Show | 5 | HG01081.hp2 HG01167.hp2 HG03471.hp1 others(2): Show |
intron_variant | MODIFIER | c.2104-1217_2104-121 others(10): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr1 | 42641215 | |||||
| chr1:42641215
|
T | TTGTGTGT others(1): Show |
4 | a0001c0001t0001g0098a0001c0002t0002g0240a0003c0014t0028g0067others(1): Show | 4 | HG00639.hp2 HG03453.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.2104-1219_2104-121 others(12): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr1 | 42641215 | |||||
| chr1:42641215
|
T | TTGTGTGT others(5): Show |
1 | a0001c0001t0001g0132 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.2104-1223_2104-121 others(16): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr1 | 42641215 | |||||
| chr1:42641215
|
TTG | T | 73 | a0001c0001t0001g0071a0001c0001t0001g0137a0001c0001t0010g0102others(70): Show | 73 | HG00323.hp2 HG00408.hp1 HG00423.hp2 others(70): Show |
intron_variant | MODIFIER | c.2104-1213_2104-121 others(6): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr1 | 42641215 | |||||
| chr1:42641215
|
TTGTG | T | 19 | a0001c0001t0001g0122a0001c0001t0001g0198a0001c0001t0007g0149others(16): Show | 19 | HG00099.hp2 HG01069.hp2 HG02074.hp1 others(16): Show |
intron_variant | MODIFIER | c.2104-1215_2104-121 others(8): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr1 | 42641215 | |||||
| chr1:42641215
|
TTGTGTGT others(5): Show |
T | 2 | a0001c0010t0005g0278a0004c0011t0009g0003 | 2 | HG02015.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.2104-1223_2104-121 others(16): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr1 | 42641215 | |||||
| chr1:42641215
|
TTGTGTGT others(7): Show |
T | 13 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(10): Show | 13 | HG02055.hp2 HG02145.hp1 HG02559.hp1 others(10): Show |
intron_variant | MODIFIER | c.2104-1225_2104-121 others(18): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr1 | 42641215 | |||||
| chr1:42641215
|
TTGTGTGT others(9): Show |
T | 9 | a0001c0005t0005g0300a0001c0005t0005g0301a0001c0005t0005g0302others(6): Show | 9 | HG01884.hp2 HG02109.hp2 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.2104-1227_2104-121 others(20): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr1 | 42641215 | |||||
| chr1:42641267
|
G | A | 1 | a0001c0005t0005g0306 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.2104-1206G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42641267 | ||||||
| chr1:42641270
|
G | T | 1 | a0001c0001t0001g0169 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.2104-1203G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42641270 | ||||||
| chr1:42641347
|
A | G | 76 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(73): Show | 76 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(73): Show |
intron_variant | MODIFIER | c.2104-1126A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42641347 | ||||||
| chr1:42641358
|
G | A | 1 | a0001c0001t0007g0078 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.2104-1115G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42641358 | ||||||
| chr1:42641504
|
T | C | 46 | a0001c0001t0010g0102a0001c0001t0010g0104a0001c0001t0010g0196others(43): Show | 46 | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(43): Show |
intron_variant | MODIFIER | c.2104-969T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42641504 | ||||||
| chr1:42641565
|
C | CA | 39 | a0001c0001t0001g0135a0001c0001t0006g0100a0001c0001t0006g0143others(36): Show | 39 | HG00673.hp1 HG01069.hp2 HG01515.hp1 others(36): Show |
intron_variant | MODIFIER | c.2104-899dupA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr1 | 42641565 | |||||
| chr1:42641809
|
A | G | 36 | a0001c0001t0001g0135a0001c0001t0006g0100a0001c0001t0019g0167others(33): Show | 36 | HG00438.hp1 HG00673.hp1 HG01069.hp2 others(33): Show |
intron_variant | MODIFIER | c.2104-664A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42641809 | ||||||
| chr1:42641947
|
T | C | 4 | a0001c0009t0017g0055a0001c0009t0017g0056a0001c0009t0017g0057others(1): Show | 4 | HG01891.hp2 HG02970.hp2 NA18522.hp2 others(1): Show |
intron_variant | MODIFIER | c.2104-526T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42641947 | ||||||
| chr1:42641952
|
A | G | 13 | a0001c0001t0001g0077a0001c0005t0008g0202a0001c0005t0008g0203others(10): Show | 13 | HG01891.hp2 HG02572.hp2 HG02717.hp1 others(10): Show |
intron_variant | MODIFIER | c.2104-521A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42641952 | ||||||
| chr1:42641953
|
T | C | 59 | a0001c0001t0001g0077a0001c0001t0006g0177a0001c0001t0006g0180others(56): Show | 59 | HG00323.hp2 HG00609.hp2 HG00673.hp1 others(56): Show |
intron_variant | MODIFIER | c.2104-520T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42641953 | ||||||
| chr1:42641959
|
C | T | 45 | a0001c0001t0010g0102a0001c0001t0010g0104a0001c0001t0010g0105others(42): Show | 45 | HG00323.hp2 HG00609.hp2 HG00738.hp1 others(42): Show |
intron_variant | MODIFIER | c.2104-514C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42641959 | ||||||
| chr1:42641963
|
C | T | 4 | a0001c0001t0001g0084a0001c0001t0001g0097a0001c0001t0001g0098others(1): Show | 4 | HG02717.hp2 HG02886.hp2 HG02897.hp2 others(1): Show |
intron_variant | MODIFIER | c.2104-510C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42641963 | ||||||
| chr1:42641980
|
A | C | 18 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0079others(15): Show | 18 | HG00673.hp1 HG01243.hp1 HG01981.hp1 others(15): Show |
intron_variant | MODIFIER | c.2104-493A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42641980 | ||||||
| chr1:42641986
|
G | A | 1 | a0001c0001t0001g0122 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.2104-487G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42641986 | ||||||
| chr1:42641992
|
A | G | 2 | a0005c0018t0026g0168a0005c0020t0008g0002 | 2 | HG02615.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.2104-481A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42641992 | ||||||
| chr1:42641996
|
T | C | 2 | a0005c0018t0026g0168a0005c0020t0008g0002 | 2 | HG02615.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.2104-477T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42641996 | ||||||
| chr1:42642000
|
C | T | 1 | a0001c0001t0006g0143 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.2104-473C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42642000 | ||||||
| chr1:42642008
|
A | G | 58 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(55): Show | 58 | HG00099.hp1 HG00673.hp1 HG00741.hp2 others(55): Show |
intron_variant | MODIFIER | c.2104-465A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42642008 | ||||||
| chr1:42642021
|
C | A | 176 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(173): Show | 176 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(173): Show |
intron_variant | MODIFIER | c.2104-452C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42642021 | ||||||
| chr1:42642021
|
C | G | 4 | a0001c0001t0001g0108a0001c0001t0006g0100a0001c0004t0022g0059others(1): Show | 4 | HG02615.hp2 HG02622.hp2 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.2104-452C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42642021 | ||||||
| chr1:42642025
|
A | G | 4 | a0001c0001t0001g0065a0001c0001t0001g0066a0001c0001t0001g0086others(1): Show | 4 | HG02257.hp2 HG03139.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.2104-448A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42642025 | ||||||
| chr1:42642029
|
T | C | 1 | a0001c0004t0004g0267 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.2104-444T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42642029 | ||||||
| chr1:42642032
|
T | C | 1 | a0003c0015t0041g0308 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.2104-441T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42642032 | ||||||
| chr1:42642035
|
C | T | 1 | a0001c0004t0040g0293 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.2104-438C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42642035 | ||||||
| chr1:42642036
|
T | C | 7 | a0001c0001t0001g0085a0001c0002t0002g0230a0001c0002t0002g0235others(4): Show | 7 | HG04228.hp1 NA18941.hp2 NA18954.hp2 others(4): Show |
intron_variant | MODIFIER | c.2104-437T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42642036 | ||||||
| chr1:42642036
|
T | G | 41 | a0001c0001t0006g0171a0001c0001t0006g0173a0001c0001t0006g0176others(38): Show | 41 | HG00099.hp1 HG00738.hp1 HG00741.hp2 others(38): Show |
intron_variant | MODIFIER | c.2104-437T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42642036 | ||||||
| chr1:42642042
|
G | A | 6 | a0001c0002t0002g0264a0001c0004t0003g0237a0001c0004t0003g0255others(3): Show | 6 | HG00639.hp2 HG01891.hp1 HG02027.hp1 others(3): Show |
intron_variant | MODIFIER | c.2104-431G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42642042 | ||||||
| chr1:42642053
|
A | G | 38 | a0001c0001t0006g0171a0001c0001t0006g0173a0001c0001t0006g0176others(35): Show | 38 | HG00099.hp1 HG00741.hp2 HG01081.hp1 others(35): Show |
intron_variant | MODIFIER | c.2104-420A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42642053 | ||||||
| chr1:42642076
|
C | T | 6 | a0001c0007t0005g0313a0001c0007t0005g0315a0001c0007t0005g0316others(3): Show | 6 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(3): Show |
intron_variant | MODIFIER | c.2104-397C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42642076 | ||||||
| chr1:42642089
|
A | G | 1 | a0011c0026t0042g0299 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.2104-384A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42642089 | ||||||
| chr1:42642118
|
T | C | 1 | a0001c0004t0022g0060 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2104-355T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42642118 | ||||||
| chr1:42642143
|
A | G | 65 | a0001c0001t0001g0132a0001c0001t0007g0093a0001c0002t0002g0204others(62): Show | 65 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(62): Show |
intron_variant | MODIFIER | c.2104-330A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42642143 | ||||||
| chr1:42642210
|
G | C | 1 | a0001c0001t0024g0145 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.2104-263G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42642210 | ||||||
| chr1:42642219
|
T | C | 62 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(59): Show | 62 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(59): Show |
intron_variant | MODIFIER | c.2104-254T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42642219 | ||||||
| chr1:42642240
|
C | A | 35 | a0001c0002t0002g0204a0001c0002t0002g0208a0001c0002t0002g0211others(32): Show | 35 | HG00099.hp2 HG00280.hp1 HG00544.hp1 others(32): Show |
intron_variant | MODIFIER | c.2104-233C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42642240 | ||||||
| chr1:42642244
|
A | AAT | 8 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(5): Show | 8 | HG02055.hp2 HG02145.hp1 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.2104-228_2104-227i others(4): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr1 | 42642244 | |||||
| chr1:42642244
|
A | C | 48 | a0001c0001t0006g0100a0001c0001t0006g0143a0001c0001t0019g0167others(45): Show | 48 | HG00438.hp1 HG00673.hp1 HG01069.hp2 others(45): Show |
intron_variant | MODIFIER | c.2104-229A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42642244 | ||||||
| chr1:42642246
|
A | AAT | 7 | a0001c0001t0001g0080a0001c0001t0001g0121a0001c0007t0005g0315others(4): Show | 7 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(4): Show |
intron_variant | MODIFIER | c.2104-210_2104-209d others(4): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr1 | 42642246 | |||||
| chr1:42642246
|
A | T | 14 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(11): Show | 14 | HG02055.hp2 HG02145.hp1 HG02559.hp1 others(11): Show |
intron_variant | MODIFIER | c.2104-227A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42642246 | ||||||
| chr1:42642248
|
T | A | 172 | a0001c0001t0001g0071a0001c0001t0001g0132a0001c0001t0001g0159others(169): Show | 172 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(169): Show |
intron_variant | MODIFIER | c.2104-225T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42642248 | ||||||
| chr1:42642250
|
T | A | 43 | a0001c0001t0006g0100a0001c0001t0006g0143a0001c0002t0002g0213others(40): Show | 43 | HG00438.hp1 HG00673.hp1 HG01069.hp2 others(40): Show |
intron_variant | MODIFIER | c.2104-223T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42642250 | ||||||
| chr1:42642379
|
G | A | 1 | a0008c0027t0014g0273 | 1 | NA18940.hp2 | intron_variant | MODIFIER | c.2104-94G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 16/20 | chr1 | 42642379 | ||||||
| chr1:42643032
|
A | G | 1 | a0001c0001t0006g0171 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.2240+423A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 17/20 | chr1 | 42643032 | ||||||
| chr1:42643190
|
C | G | 15 | a0003c0008t0012g0262a0003c0008t0012g0265a0003c0008t0012g0289others(12): Show | 15 | HG00639.hp2 HG01167.hp2 HG01243.hp1 others(12): Show |
intron_variant | MODIFIER | c.2240+581C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 17/20 | chr1 | 42643190 | ||||||
| chr1:42643280
|
G | A | 4 | a0003c0012t0048g0062a0003c0012t0049g0061a0003c0015t0038g0305others(1): Show | 4 | HG01167.hp2 HG03471.hp2 NA20129.hp2 others(1): Show |
intron_variant | MODIFIER | c.2240+671G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 17/20 | chr1 | 42643280 | ||||||
| chr1:42643417
|
C | G | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.2240+808C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 17/20 | chr1 | 42643417 | ||||||
| chr1:42643674
|
CA | C | 62 | a0001c0001t0006g0100a0001c0001t0006g0143a0001c0001t0006g0171others(59): Show | 62 | HG00099.hp1 HG00438.hp1 HG00673.hp1 others(59): Show |
intron_variant | MODIFIER | c.2241-1016delA | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | 42643674 | |||||
| chr1:42643898
|
G | T | 1 | a0001c0001t0001g0175 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.2241-795G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 17/20 | chr1 | 42643898 | ||||||
| chr1:42644132
|
G | A | 1 | a0006c0029t0039g0052 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2241-561G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 17/20 | chr1 | 42644132 | ||||||
| chr1:42644282
|
G | A | 1 | a0002c0003t0014g0009 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.2241-411G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 17/20 | chr1 | 42644282 | ||||||
| chr1:42644287
|
C | G | 8 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0006t0008g0314others(5): Show | 8 | HG02615.hp1 HG02622.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.2241-406C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 17/20 | chr1 | 42644287 | ||||||
| chr1:42644290
|
C | T | 4 | a0001c0005t0036g0309a0001c0009t0017g0055a0001c0009t0017g0056others(1): Show | 4 | HG02970.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.2241-403C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 17/20 | chr1 | 42644290 | ||||||
| chr1:42644427
|
C | T | 4 | a0001c0005t0036g0309a0001c0009t0017g0055a0001c0009t0017g0056others(1): Show | 4 | HG02970.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.2241-266C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 17/20 | chr1 | 42644427 | ||||||
| chr1:42644428
|
G | A | 1 | a0003c0014t0028g0067 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.2241-265G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 17/20 | chr1 | 42644428 | ||||||
| chr1:42644457
|
C | T | 1 | a0001c0002t0002g0219 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.2241-236C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 17/20 | chr1 | 42644457 | ||||||
| chr1:42644605
|
G | A | 226 | a0001c0001t0001g0065a0001c0001t0001g0066a0001c0001t0001g0076others(223): Show | 226 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(223): Show |
intron_variant | MODIFIER | c.2241-88G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 17/20 | chr1 | 42644605 | ||||||
| chr1:42644613
|
T | C | 8 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0006t0008g0314others(5): Show | 8 | HG02615.hp1 HG02622.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.2241-80T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 17/20 | chr1 | 42644613 | ||||||
| chr1:42644815
|
G | A | 1 | a0001c0001t0001g0132 | 1 | NA18966.hp1 | splice_region_variant&intron_variant | LOW | c.2355+8G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 18/20 | chr1 | 42644815 | ||||||
| chr1:42644848
|
A | C | 6 | a0001c0007t0005g0313a0001c0007t0005g0315a0001c0007t0005g0316others(3): Show | 6 | HG01243.hp2 HG01884.hp1 HG02055.hp1 others(3): Show |
intron_variant | MODIFIER | c.2355+41A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 18/20 | chr1 | 42644848 | ||||||
| chr1:42644940
|
G | C | 1 | a0001c0021t0045g0049 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2355+133G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 18/20 | chr1 | 42644940 | ||||||
| chr1:42645210
|
G | T | 6 | a0003c0008t0012g0262a0003c0008t0012g0265a0003c0008t0012g0289others(3): Show | 6 | HG01243.hp1 HG01981.hp1 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.2355+403G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 18/20 | chr1 | 42645210 | ||||||
| chr1:42645277
|
C | T | 2 | a0001c0001t0006g0177a0001c0001t0006g0180 | 2 | HG03688.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.2355+470C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 18/20 | chr1 | 42645277 | ||||||
| chr1:42645443
|
G | A | 1 | a0001c0001t0010g0104 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.2355+636G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 18/20 | chr1 | 42645443 | ||||||
| chr1:42646050
|
A | G | 1 | a0001c0001t0019g0167 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.2356-85A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 18/20 | chr1 | 42646050 | ||||||
| chr1:42646070
|
G | A | 57 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(54): Show | 57 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(54): Show |
intron_variant | MODIFIER | c.2356-65G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 18/20 | chr1 | 42646070 | ||||||
| chr1:42647040
|
C | T | 1 | a0001c0013t0019g0081 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2538+723C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42647040 | ||||||
| chr1:42647107
|
T | A | 8 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0006t0008g0314others(5): Show | 8 | HG02615.hp1 HG02622.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.2538+790T>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42647107 | ||||||
| chr1:42647242
|
G | A | 314 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(311): Show | 315 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(312): Show |
intron_variant | MODIFIER | c.2538+925G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42647242 | ||||||
| chr1:42647720
|
G | A | 59 | a0001c0001t0019g0167a0001c0002t0002g0204a0001c0002t0002g0205others(56): Show | 59 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(56): Show |
intron_variant | MODIFIER | c.2538+1403G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42647720 | ||||||
| chr1:42648008
|
T | C | 4 | a0001c0005t0036g0309a0001c0009t0017g0055a0001c0009t0017g0056others(1): Show | 4 | HG02970.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.2538+1691T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42648008 | ||||||
| chr1:42648171
|
C | G | 6 | a0003c0008t0012g0262a0003c0008t0012g0265a0003c0008t0012g0289others(3): Show | 6 | HG01243.hp1 HG01981.hp1 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.2538+1854C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42648171 | ||||||
| chr1:42648187
|
G | A | 15 | a0003c0008t0012g0262a0003c0008t0012g0265a0003c0008t0012g0289others(12): Show | 15 | HG00639.hp2 HG01167.hp2 HG01243.hp1 others(12): Show |
intron_variant | MODIFIER | c.2538+1870G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42648187 | ||||||
| chr1:42648268
|
C | T | 14 | a0003c0008t0012g0262a0003c0008t0012g0265a0003c0008t0012g0289others(11): Show | 14 | HG01167.hp2 HG01243.hp1 HG01981.hp1 others(11): Show |
intron_variant | MODIFIER | c.2538+1951C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42648268 | ||||||
| chr1:42648397
|
G | A | 2 | a0001c0002t0002g0233a0001c0002t0002g0234 | 2 | NA18983.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.2538+2080G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42648397 | ||||||
| chr1:42648619
|
G | A | 63 | a0001c0001t0001g0140a0001c0001t0006g0100a0001c0001t0006g0143others(60): Show | 63 | HG00099.hp1 HG00438.hp1 HG00673.hp1 others(60): Show |
intron_variant | MODIFIER | c.2538+2302G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42648619 | ||||||
| chr1:42648663
|
C | T | 1 | a0002c0003t0003g0028 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.2538+2346C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42648663 | ||||||
| chr1:42648717
|
T | C | 3 | a0003c0012t0048g0062a0003c0012t0049g0061a0003c0015t0038g0305 | 3 | HG01167.hp2 HG03471.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.2538+2400T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42648717 | ||||||
| chr1:42648765
|
T | G | 3 | a0003c0008t0012g0262a0003c0008t0012g0265a0003c0008t0037g0263 | 3 | HG01243.hp1 HG02896.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.2538+2448T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42648765 | ||||||
| chr1:42649342
|
G | T | 1 | a0003c0014t0028g0067 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.2538+3025G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42649342 | ||||||
| chr1:42649730
|
A | G | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG02055.hp2 HG02145.hp1 HG02965.hp2 others(1): Show |
intron_variant | MODIFIER | c.2538+3413A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42649730 | ||||||
| chr1:42649737
|
A | C | 82 | a0001c0001t0019g0167a0001c0002t0002g0204a0001c0002t0002g0205others(79): Show | 82 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(79): Show |
intron_variant | MODIFIER | c.2538+3420A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42649737 | ||||||
| chr1:42649743
|
ACAAAATC others(7): Show |
A | 6 | a0003c0008t0012g0262a0003c0008t0012g0265a0003c0008t0012g0289others(3): Show | 6 | HG01243.hp1 HG01981.hp1 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.2538+3449_2538+346 others(18): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr1 | 42649743 | |||||
| chr1:42649905
|
G | A | 8 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0006t0008g0314others(5): Show | 8 | HG02615.hp1 HG02622.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.2539-3471G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42649905 | ||||||
| chr1:42650075
|
G | A | 4 | a0001c0001t0001g0091a0001c0001t0007g0093a0001c0001t0024g0145others(1): Show | 4 | HG01081.hp2 HG01106.hp2 HG01433.hp1 others(1): Show |
intron_variant | MODIFIER | c.2539-3301G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42650075 | ||||||
| chr1:42650150
|
G | A | 15 | a0003c0008t0012g0262a0003c0008t0012g0265a0003c0008t0012g0289others(12): Show | 15 | HG00639.hp2 HG01167.hp2 HG01243.hp1 others(12): Show |
intron_variant | MODIFIER | c.2539-3226G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42650150 | ||||||
| chr1:42650204
|
TG | T | 8 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0006t0008g0314others(5): Show | 8 | HG02615.hp1 HG02622.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.2539-3169delG | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr1 | 42650204 | |||||
| chr1:42650210
|
C | T | 1 | a0001c0001t0001g0198 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.2539-3166C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42650210 | ||||||
| chr1:42650252
|
G | C | 1 | a0009c0023t0002g0223 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.2539-3124G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42650252 | ||||||
| chr1:42650490
|
A | AAT | 78 | a0001c0001t0006g0100a0001c0001t0006g0171a0001c0001t0006g0173others(75): Show | 78 | HG00544.hp1 HG00609.hp2 HG00673.hp1 others(75): Show |
intron_variant | MODIFIER | c.2539-2879_2539-287 others(6): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr1 | 42650490 | |||||
| chr1:42650497
|
A | ATATG | 27 | a0001c0001t0006g0179a0001c0001t0010g0105a0001c0001t0011g0092others(24): Show | 27 | HG00323.hp2 HG01167.hp1 HG01169.hp2 others(24): Show |
intron_variant | MODIFIER | c.2539-2878_2539-287 others(8): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr1 | 42650497 | |||||
| chr1:42650497
|
A | ATATGTG | 11 | a0001c0001t0006g0189a0001c0001t0010g0196a0001c0004t0015g0210others(8): Show | 11 | HG00099.hp1 HG02559.hp2 HG02572.hp1 others(8): Show |
intron_variant | MODIFIER | c.2539-2878_2539-287 others(10): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr1 | 42650497 | |||||
| chr1:42650497
|
A | ATATGTGT others(3): Show |
8 | a0001c0001t0001g0077a0001c0001t0001g0079a0001c0001t0001g0080others(5): Show | 8 | HG00639.hp2 HG00738.hp1 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.2539-2878_2539-287 others(14): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr1 | 42650497 | |||||
| chr1:42650497
|
A | ATATGTGT others(5): Show |
1 | a0001c0001t0001g0076 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.2539-2878_2539-287 others(16): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr1 | 42650497 | |||||
| chr1:42650497
|
A | ATG | 31 | a0001c0001t0001g0069a0001c0001t0001g0070a0001c0001t0001g0082others(28): Show | 31 | HG00280.hp2 HG00558.hp2 HG00735.hp2 others(28): Show |
intron_variant | MODIFIER | c.2539-2837_2539-283 others(6): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr1 | 42650497 | |||||
| chr1:42650497
|
A | ATGTG | 8 | a0001c0001t0001g0108a0001c0001t0001g0140a0001c0001t0001g0142others(5): Show | 8 | HG01069.hp1 HG01106.hp1 HG02683.hp2 others(5): Show |
intron_variant | MODIFIER | c.2539-2839_2539-283 others(8): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr1 | 42650497 | |||||
| chr1:42650497
|
A | ATGTGTGT others(3): Show |
1 | a0003c0012t0049g0061 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.2539-2845_2539-283 others(14): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr1 | 42650497 | |||||
| chr1:42650497
|
A | ATGTGTGT others(5): Show |
2 | a0001c0001t0007g0093a0001c0001t0025g0130 | 2 | HG01081.hp2 HG01433.hp1 |
intron_variant | MODIFIER | c.2539-2847_2539-283 others(16): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr1 | 42650497 | |||||
| chr1:42650497
|
A | ATGTGTGT others(7): Show |
1 | a0001c0001t0001g0091 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.2539-2849_2539-283 others(18): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr1 | 42650497 | |||||
| chr1:42650497
|
ATG | A | 27 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(24): Show | 27 | HG00323.hp1 HG00735.hp1 HG00738.hp2 others(24): Show |
intron_variant | MODIFIER | c.2539-2837_2539-283 others(6): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr1 | 42650497 | |||||
| chr1:42650497
|
ATGTG | A | 63 | a0001c0001t0001g0068a0001c0001t0001g0098a0001c0001t0001g0137others(60): Show | 63 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(60): Show |
intron_variant | MODIFIER | c.2539-2839_2539-283 others(8): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr1 | 42650497 | |||||
| chr1:42650497
|
ATGTGTG | A | 4 | a0001c0007t0005g0313a0001c0007t0005g0315a0001c0007t0005g0316others(1): Show | 4 | HG01243.hp2 HG02257.hp1 HG02970.hp1 others(1): Show |
intron_variant | MODIFIER | c.2539-2841_2539-283 others(10): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr1 | 42650497 | |||||
| chr1:42650497
|
ATGTGTGT others(1): Show |
A | 3 | a0001c0001t0001g0198a0001c0001t0019g0167a0001c0002t0002g0216 | 3 | HG02486.hp2 HG02809.hp2 NA18946.hp2 |
intron_variant | MODIFIER | c.2539-2843_2539-283 others(12): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr1 | 42650497 | |||||
| chr1:42650497
|
ATGTGTGT others(5): Show |
A | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.2539-2847_2539-283 others(16): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr1 | 42650497 | |||||
| chr1:42650499
|
G | A | 11 | a0001c0001t0006g0182a0001c0001t0011g0172a0001c0001t0011g0194others(8): Show | 11 | HG00438.hp1 HG01515.hp1 HG01516.hp1 others(8): Show |
intron_variant | MODIFIER | c.2539-2877G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42650499 | ||||||
| chr1:42650501
|
G | A | 7 | a0001c0002t0002g0241a0001c0002t0002g0260a0001c0006t0004g0311others(4): Show | 7 | HG00735.hp1 HG02258.hp2 HG02965.hp1 others(4): Show |
intron_variant | MODIFIER | c.2539-2875G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42650501 | ||||||
| chr1:42650503
|
G | A | 50 | a0001c0002t0002g0204a0001c0002t0002g0205a0001c0002t0002g0207others(47): Show | 50 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(47): Show |
intron_variant | MODIFIER | c.2539-2873G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42650503 | ||||||
| chr1:42650505
|
G | A | 1 | a0001c0013t0019g0081 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2539-2871G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42650505 | ||||||
| chr1:42650507
|
G | A | 2 | a0001c0001t0019g0167a0001c0002t0002g0216 | 2 | HG02486.hp2 NA18946.hp2 |
intron_variant | MODIFIER | c.2539-2869G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42650507 | ||||||
| chr1:42650511
|
G | A | 3 | a0004c0011t0009g0003a0004c0011t0009g0004a0004c0011t0009g0005 | 3 | HG02896.hp1 HG03195.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.2539-2865G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42650511 | ||||||
| chr1:42650620
|
G | A | 2 | a0005c0018t0026g0168a0005c0020t0008g0002 | 2 | HG02615.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.2539-2756G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42650620 | ||||||
| chr1:42650819
|
G | A | 5 | a0002c0003t0003g0036a0002c0003t0003g0045a0002c0003t0003g0046others(2): Show | 5 | HG01175.hp1 HG01515.hp2 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.2539-2557G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42650819 | ||||||
| chr1:42651161
|
G | A | 62 | a0001c0001t0006g0100a0001c0001t0006g0143a0001c0001t0006g0171others(59): Show | 62 | HG00099.hp1 HG00438.hp1 HG00673.hp1 others(59): Show |
intron_variant | MODIFIER | c.2539-2215G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42651161 | ||||||
| chr1:42651167
|
G | C | 62 | a0001c0001t0006g0100a0001c0001t0006g0143a0001c0001t0006g0171others(59): Show | 62 | HG00099.hp1 HG00438.hp1 HG00673.hp1 others(59): Show |
intron_variant | MODIFIER | c.2539-2209G>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42651167 | ||||||
| chr1:42651250
|
A | T | 1 | a0001c0005t0036g0309 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.2539-2126A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42651250 | ||||||
| chr1:42651437
|
A | C | 1 | a0001c0001t0001g0086 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.2539-1939A>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42651437 | ||||||
| chr1:42651462
|
G | T | 59 | a0001c0001t0019g0167a0001c0002t0002g0204a0001c0002t0002g0205others(56): Show | 59 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(56): Show |
intron_variant | MODIFIER | c.2539-1914G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42651462 | ||||||
| chr1:42651980
|
C | CTG | 200 | a0001c0001t0006g0100a0001c0001t0006g0143a0001c0001t0006g0171others(197): Show | 200 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(197): Show |
intron_variant | MODIFIER | c.2539-1393_2539-139 others(6): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr1 | 42651980 | |||||
| chr1:42652006
|
A | T | 8 | a0001c0004t0004g0199a0001c0004t0004g0200a0001c0004t0004g0258others(5): Show | 8 | HG01069.hp2 HG02145.hp2 HG02258.hp2 others(5): Show |
intron_variant | MODIFIER | c.2539-1370A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42652006 | ||||||
| chr1:42652171
|
T | C | 3 | a0001c0001t0001g0091a0001c0001t0007g0093a0001c0001t0025g0130 | 3 | HG01081.hp2 HG01106.hp2 HG01433.hp1 |
intron_variant | MODIFIER | c.2539-1205T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42652171 | ||||||
| chr1:42652188
|
T | C | 82 | a0001c0001t0019g0167a0001c0002t0002g0204a0001c0002t0002g0205others(79): Show | 82 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(79): Show |
intron_variant | MODIFIER | c.2539-1188T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42652188 | ||||||
| chr1:42652295
|
C | T | 1 | a0001c0002t0002g0226 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.2539-1081C>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42652295 | ||||||
| chr1:42652319
|
A | G | 226 | a0001c0001t0001g0065a0001c0001t0001g0066a0001c0001t0001g0076others(223): Show | 226 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(223): Show |
intron_variant | MODIFIER | c.2539-1057A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42652319 | ||||||
| chr1:42652369
|
G | A | 4 | a0001c0005t0036g0309a0001c0009t0017g0055a0001c0009t0017g0056others(1): Show | 4 | HG02970.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.2539-1007G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42652369 | ||||||
| chr1:42652491
|
A | G | 1 | a0001c0001t0001g0118 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.2539-885A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42652491 | ||||||
| chr1:42652510
|
G | T | 300 | a0001c0001t0001g0001a0001c0001t0001g0065a0001c0001t0001g0066others(297): Show | 301 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(298): Show |
intron_variant | MODIFIER | c.2539-866G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42652510 | ||||||
| chr1:42652553
|
T | C | 1 | a0003c0014t0028g0067 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.2539-823T>C | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42652553 | ||||||
| chr1:42652556
|
A | G | 1 | a0001c0002t0002g0226 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.2539-820A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42652556 | ||||||
| chr1:42652706
|
C | G | 62 | a0001c0001t0006g0100a0001c0001t0006g0143a0001c0001t0006g0171others(59): Show | 62 | HG00099.hp1 HG00438.hp1 HG00673.hp1 others(59): Show |
intron_variant | MODIFIER | c.2539-670C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42652706 | ||||||
| chr1:42652882
|
A | G | 8 | a0001c0005t0008g0202a0001c0005t0008g0203a0001c0006t0008g0314others(5): Show | 8 | HG02615.hp1 HG02622.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.2539-494A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42652882 | ||||||
| chr1:42652898
|
C | A | 1 | a0001c0021t0045g0049 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2539-478C>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42652898 | ||||||
| chr1:42652903
|
C | G | 1 | a0001c0002t0002g0245 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.2539-473C>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42652903 | ||||||
| chr1:42653157
|
TAGAC | T | 3 | a0003c0012t0048g0062a0003c0012t0049g0061a0003c0015t0038g0305 | 3 | HG01167.hp2 HG03471.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.2539-215_2539-212d others(6): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr1 | 42653157 | |||||
| chr1:42653204
|
A | G | 1 | a0001c0001t0001g0198 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.2539-172A>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42653204 | ||||||
| chr1:42653209
|
T | G | 1 | a0001c0005t0008g0202 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.2539-167T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42653209 | ||||||
| chr1:42653211
|
G | T | 135 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0079others(132): Show | 135 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(132): Show |
intron_variant | MODIFIER | c.2539-165G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42653211 | ||||||
| chr1:42653213
|
G | T | 1 | a0001c0001t0013g0195 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.2539-163G>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42653213 | ||||||
| chr1:42653303
|
A | T | 1 | a0003c0015t0041g0308 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.2539-73A>T | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 19/20 | chr1 | 42653303 | ||||||
| chr1:42653532
|
G | A | 1 | a0003c0015t0038g0305 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.2606+89G>A | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 20/20 | chr1 | 42653532 | ||||||
| chr1:42653745
|
T | G | 1 | a0001c0005t0036g0309 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.2607-73T>G | CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 20/20 | chr1 | 42653745 |