| geneid | 25766 |
|---|---|
| ensemblid | ENSG00000110844.14 |
| hgncid | 25031 |
| symbol | PRPF40B |
| name | pre-mRNA processing factor 40 homolog B |
| refseq_nuc | NM_001031698.3 |
| refseq_prot | NP_001026868.2 |
| ensembl_nuc | ENST00000548825.7 |
| ensembl_prot | ENSP00000448073.2 |
| mane_status | MANE Select |
| chr | chr12 |
| start | 49623561 |
| end | 49644665 |
| strand | + |
| ver | v1.2 |
| region | chr12:49623561-49644665 |
| region5000 | chr12:49618561-49649665 |
| regionname0 | PRPF40B_chr12_49623561_49644665 |
| regionname5000 | PRPF40B_chr12_49618561_49649665 |
| 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 | 892 | 192 | 84 | 38 | 50 | 8 | 10 | 32 | PRPF40B_chr12_49618561_49649665 | PRPF40B | copy fasta | chr12 | 49618561 | 49649665 |
| a0002 | 0/0 | 892 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | copy fasta | chr12 | 49618561 | 49649665 |
| a0003 | 0/0 | 892 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | copy fasta | chr12 | 49618561 | 49649665 |
| 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 | 2679 | 172 | 83 | 34 | 36 | 7 | 10 | PRPF40B_chr12_49618561_49649665 | PRPF40B | copy fasta | chr12 | 49618561 | 49649665 |
| c0002 | 0/0 | 2679 | 15 | 0 | 2 | 12 | 1 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | copy fasta | chr12 | 49618561 | 49649665 |
| c0003 | 0/0 | 2679 | 2 | 0 | 2 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | copy fasta | chr12 | 49618561 | 49649665 |
| c0004 | 0/0 | 2679 | 1 | 0 | 0 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | copy fasta | chr12 | 49618561 | 49649665 |
| c0005 | 0/0 | 2679 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | copy fasta | chr12 | 49618561 | 49649665 |
| c0006 | 0/0 | 2679 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | copy fasta | chr12 | 49618561 | 49649665 |
| c0007 | 0/0 | 2679 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | copy fasta | chr12 | 49618561 | 49649665 |
| c0008 | 0/0 | 2679 | 1 | 0 | 0 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | copy fasta | chr12 | 49618561 | 49649665 |
| 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 | 504 | 107 | 30 | 29 | 33 | 6 | 7 | PRPF40B_chr12_49618561_49649665 | PRPF40B | copy fasta | chr12 | 49618561 | 49649665 |
| t0002 | 0/0 | 504 | 85 | 54 | 9 | 17 | 2 | 3 | PRPF40B_chr12_49618561_49649665 | PRPF40B | copy fasta | chr12 | 49618561 | 49649665 |
| t0003 | 0/0 | 502 | 2 | 2 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | copy fasta | chr12 | 49618561 | 49649665 |
| 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 | 1/1 | 51 | 14 | 11 | 17 | 4 | 3 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0002 | 0/0 | 16 | 7 | 4 | 3 | 1 | 1 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0003 | 0/0 | 6 | 5 | 1 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0004 | 0/0 | 6 | 0 | 2 | 3 | 1 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0005 | 0/0 | 6 | 6 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0006 | 0/0 | 5 | 4 | 1 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0007 | 0/0 | 5 | 0 | 5 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0008 | 0/0 | 5 | 5 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0009 | 0/0 | 4 | 2 | 2 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0010 | 0/0 | 4 | 4 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0011 | 0/0 | 4 | 4 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0012 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0013 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0014 | 0/0 | 3 | 0 | 1 | 2 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0015 | 0/0 | 3 | 0 | 0 | 1 | 0 | 2 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0016 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0017 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0018 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0019 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0020 | 0/0 | 2 | 1 | 0 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0035 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0052 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0053 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0065 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0067 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0069 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0077 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| 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 | 2679 | 172 | 83 | 34 | 36 | 7 | 10 | PRPF40B_chr12_49618561_49649665 | PRPF40B | copy fasta | chr12 | 49618561 | 49649665 |
| a0001c0002 | 0/0 | 2679 | 15 | 0 | 2 | 12 | 1 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | copy fasta | chr12 | 49618561 | 49649665 |
| a0001c0003 | 0/0 | 2679 | 2 | 0 | 2 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | copy fasta | chr12 | 49618561 | 49649665 |
| a0001c0004 | 0/0 | 2679 | 1 | 0 | 0 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | copy fasta | chr12 | 49618561 | 49649665 |
| a0001c0007 | 0/0 | 2679 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | copy fasta | chr12 | 49618561 | 49649665 |
| a0001c0008 | 0/0 | 2679 | 1 | 0 | 0 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | copy fasta | chr12 | 49618561 | 49649665 |
| a0002c0005 | 0/0 | 2679 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | copy fasta | chr12 | 49618561 | 49649665 |
| a0003c0006 | 0/0 | 2679 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | copy fasta | chr12 | 49618561 | 49649665 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 1/1 | 3182 | 100 | 27 | 27 | 31 | 6 | 7 | PRPF40B_chr12_49618561_49649665 | PRPF40B | copy fasta | chr12 | 49618561 | 49649665 |
| a0001c0001t0002 | 0/0 | 3182 | 70 | 54 | 7 | 5 | 1 | 3 | PRPF40B_chr12_49618561_49649665 | PRPF40B | copy fasta | chr12 | 49618561 | 49649665 |
| a0001c0001t0003 | 0/0 | 3180 | 2 | 2 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | copy fasta | chr12 | 49618561 | 49649665 |
| a0001c0002t0002 | 0/0 | 3182 | 15 | 0 | 2 | 12 | 1 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | copy fasta | chr12 | 49618561 | 49649665 |
| a0001c0003t0001 | 0/0 | 3182 | 2 | 0 | 2 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | copy fasta | chr12 | 49618561 | 49649665 |
| a0001c0004t0001 | 0/0 | 3182 | 1 | 0 | 0 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | copy fasta | chr12 | 49618561 | 49649665 |
| a0001c0007t0001 | 0/0 | 3182 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | copy fasta | chr12 | 49618561 | 49649665 |
| a0001c0008t0001 | 0/0 | 3182 | 1 | 0 | 0 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | copy fasta | chr12 | 49618561 | 49649665 |
| a0002c0005t0001 | 0/0 | 3182 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | copy fasta | chr12 | 49618561 | 49649665 |
| a0003c0006t0001 | 0/0 | 3182 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | copy fasta | chr12 | 49618561 | 49649665 |
| 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 | 1/1 | 45 | 11 | 9 | 16 | 4 | 3 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0001g0005 | 0/0 | 6 | 6 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0001g0007 | 0/0 | 5 | 0 | 5 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0001g0009 | 0/0 | 4 | 2 | 2 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0001g0014 | 0/0 | 2 | 0 | 1 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0001g0018 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0001g0019 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0001g0020 | 0/0 | 2 | 1 | 0 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0001g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0001g0035 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0001g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0001g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0001g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0001g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0001g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0001g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0001g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0001g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0001g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0001g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0001g0053 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0001g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0001g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0001g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0001g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0001g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0001g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0001g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0001g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0001g0065 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0001g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0001g0067 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0001g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0001g0069 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0001g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0001g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0001g0077 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0001g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0001g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0002g0002 | 0/0 | 16 | 7 | 4 | 3 | 1 | 1 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0002g0003 | 0/0 | 6 | 5 | 1 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0002g0006 | 0/0 | 5 | 4 | 1 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0002g0008 | 0/0 | 4 | 4 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0002g0010 | 0/0 | 4 | 4 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0002g0011 | 0/0 | 4 | 4 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0002g0015 | 0/0 | 3 | 0 | 0 | 1 | 0 | 2 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0002g0016 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0002g0017 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0002g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0002g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0002g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0002g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0002g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0002g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0002g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0002g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0002g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0002g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0002g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0002g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0002g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0002g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0002g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0002g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0002g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0002g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0002g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0002g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0002g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0002g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0002g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0002g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0003g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0001t0003g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0002t0002g0004 | 0/0 | 6 | 0 | 2 | 3 | 1 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0002t0002g0012 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0002t0002g0013 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0002t0002g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0002t0002g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0002t0002g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0003t0001g0001 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0004t0001g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0007t0001g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0001c0008t0001g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0002c0005t0001g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| a0003c0006t0001g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | GBR | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG00099 | hp2 | a0001 | c0001 | t0001 | g0065 | EUR | GBR | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG00140 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | GBR | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG00140 | hp2 | a0001 | c0001 | t0001 | g0052 | EUR | GBR | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG00280 | hp1 | a0001 | c0002 | t0002 | g0004 | EUR | FIN | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG00280 | hp2 | a0001 | c0001 | t0001 | g0001 | EUR | FIN | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG00544 | hp1 | a0001 | c0001 | t0001 | g0080 | EAS | CHS | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG00544 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0060 | EAS | CHS | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG00609 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG00621 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG00621 | hp2 | a0001 | c0001 | t0001 | g0057 | EAS | CHS | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG00639 | hp1 | a0001 | c0001 | t0002 | g0002 | AMR | PUR | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG00639 | hp2 | a0001 | c0003 | t0001 | g0001 | AMR | PUR | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG00642 | hp1 | a0001 | c0001 | t0001 | g0068 | AMR | PUR | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG00642 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG00741 | hp1 | a0001 | c0001 | t0001 | g0018 | AMR | PUR | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG00741 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG01074 | hp1 | a0001 | c0001 | t0001 | g0040 | AMR | PUR | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG01074 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG01081 | hp1 | a0001 | c0001 | t0001 | g0019 | AMR | PUR | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG01081 | hp2 | a0001 | c0001 | t0001 | g0007 | AMR | PUR | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG01109 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG01109 | hp2 | a0001 | c0001 | t0002 | g0002 | AMR | PUR | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG01167 | hp1 | a0001 | c0001 | t0002 | g0003 | AMR | PUR | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG01167 | hp2 | a0001 | c0001 | t0001 | g0009 | AMR | PUR | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG01169 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG01169 | hp2 | a0001 | c0001 | t0001 | g0009 | AMR | PUR | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG01192 | hp1 | a0001 | c0001 | t0001 | g0019 | AMR | PUR | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG01192 | hp2 | a0001 | c0001 | t0002 | g0002 | AMR | PUR | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG01261 | hp1 | a0001 | c0001 | t0001 | g0007 | AMR | CLM | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG01261 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG01346 | hp1 | a0001 | c0001 | t0002 | g0006 | AMR | CLM | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG01346 | hp2 | a0001 | c0001 | t0001 | g0018 | AMR | CLM | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG01358 | hp1 | a0001 | c0001 | t0001 | g0077 | AMR | CLM | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG01358 | hp2 | a0001 | c0003 | t0001 | g0001 | AMR | CLM | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG01361 | hp1 | a0001 | c0001 | t0002 | g0002 | AMR | CLM | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG01361 | hp2 | a0001 | c0001 | t0001 | g0007 | AMR | CLM | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG01433 | hp1 | a0001 | c0001 | t0001 | g0014 | AMR | CLM | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG01433 | hp2 | a0001 | c0001 | t0001 | g0038 | AMR | CLM | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG01496 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG01496 | hp2 | a0001 | c0001 | t0001 | g0059 | AMR | CLM | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG01884 | hp1 | a0001 | c0001 | t0002 | g0010 | AFR | ACB | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG01884 | hp2 | a0001 | c0001 | t0002 | g0002 | AFR | ACB | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG01891 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG01891 | hp2 | a0001 | c0001 | t0002 | g0011 | AFR | ACB | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG01975 | hp1 | a0001 | c0001 | t0001 | g0051 | AMR | PEL | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG01975 | hp2 | a0001 | c0001 | t0001 | g0007 | AMR | PEL | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG01978 | hp1 | a0001 | c0001 | t0002 | g0030 | AMR | PEL | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG01978 | hp2 | a0001 | c0001 | t0001 | g0007 | AMR | PEL | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02004 | hp1 | a0001 | c0002 | t0002 | g0004 | AMR | PEL | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02004 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02015 | hp1 | a0001 | c0001 | t0001 | g0046 | EAS | KHV | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02015 | hp2 | a0001 | c0001 | t0002 | g0029 | EAS | KHV | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02040 | hp1 | a0001 | c0004 | t0001 | g0014 | EAS | KHV | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02040 | hp2 | a0001 | c0001 | t0001 | g0014 | EAS | KHV | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02055 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02055 | hp2 | a0001 | c0001 | t0002 | g0010 | AFR | ACB | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02080 | hp1 | a0001 | c0002 | t0002 | g0028 | EAS | KHV | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02080 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02135 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02135 | hp2 | a0001 | c0002 | t0002 | g0013 | EAS | KHV | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02145 | hp1 | a0001 | c0001 | t0002 | g0034 | AFR | ACB | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02145 | hp2 | a0001 | c0001 | t0001 | g0009 | AFR | ACB | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02165 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CDX | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02165 | hp2 | a0001 | c0001 | t0001 | g0021 | EAS | CDX | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02257 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02257 | hp2 | a0001 | c0001 | t0002 | g0006 | AFR | ACB | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02258 | hp1 | a0001 | c0001 | t0001 | g0005 | AFR | ACB | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02258 | hp2 | a0001 | c0001 | t0002 | g0008 | AFR | ACB | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02293 | hp1 | a0001 | c0002 | t0002 | g0004 | AMR | PEL | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02293 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02451 | hp1 | a0001 | c0001 | t0002 | g0063 | AFR | ACB | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02451 | hp2 | a0001 | c0001 | t0001 | g0009 | AFR | ACB | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02523 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02523 | hp2 | a0001 | c0001 | t0001 | g0066 | EAS | KHV | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02572 | hp1 | a0001 | c0001 | t0002 | g0070 | AFR | GWD | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02572 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02615 | hp1 | a0001 | c0001 | t0001 | g0076 | AFR | GWD | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02615 | hp2 | a0001 | c0001 | t0002 | g0075 | AFR | GWD | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02622 | hp1 | a0001 | c0001 | t0002 | g0043 | AFR | GWD | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02622 | hp2 | a0001 | c0001 | t0002 | g0008 | AFR | GWD | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02630 | hp1 | a0001 | c0001 | t0001 | g0048 | AFR | GWD | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02630 | hp2 | a0001 | c0001 | t0002 | g0002 | AFR | GWD | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02647 | hp1 | a0001 | c0001 | t0003 | g0073 | AFR | GWD | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02647 | hp2 | a0001 | c0001 | t0003 | g0008 | AFR | GWD | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02717 | hp1 | a0001 | c0001 | t0001 | g0005 | AFR | GWD | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02717 | hp2 | a0001 | c0001 | t0002 | g0002 | AFR | GWD | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02723 | hp1 | a0001 | c0001 | t0002 | g0002 | AFR | GWD | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02723 | hp2 | a0001 | c0001 | t0002 | g0072 | AFR | GWD | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02809 | hp1 | a0001 | c0001 | t0001 | g0005 | AFR | GWD | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02809 | hp2 | a0001 | c0001 | t0002 | g0017 | AFR | GWD | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02886 | hp1 | a0001 | c0001 | t0001 | g0020 | AFR | GWD | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02886 | hp2 | a0001 | c0001 | t0002 | g0078 | AFR | GWD | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02896 | hp1 | a0001 | c0001 | t0002 | g0003 | AFR | GWD | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02896 | hp2 | a0001 | c0001 | t0002 | g0071 | AFR | GWD | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02897 | hp1 | a0001 | c0001 | t0002 | g0003 | AFR | GWD | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02897 | hp2 | a0001 | c0001 | t0002 | g0002 | AFR | GWD | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02922 | hp1 | a0001 | c0001 | t0002 | g0017 | AFR | ESN | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02922 | hp2 | a0001 | c0001 | t0001 | g0044 | AFR | ESN | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02965 | hp1 | a0001 | c0001 | t0002 | g0042 | AFR | ESN | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02965 | hp2 | a0001 | c0001 | t0002 | g0006 | AFR | ESN | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02976 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ESN | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02976 | hp2 | a0001 | c0001 | t0002 | g0010 | AFR | ESN | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG03098 | hp1 | a0001 | c0001 | t0002 | g0008 | AFR | MSL | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG03098 | hp2 | a0001 | c0001 | t0002 | g0010 | AFR | MSL | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG03130 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ESN | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG03130 | hp2 | a0001 | c0001 | t0002 | g0024 | AFR | ESN | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG03139 | hp1 | a0001 | c0001 | t0002 | g0054 | AFR | ESN | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG03139 | hp2 | a0001 | c0001 | t0002 | g0064 | AFR | ESN | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG03195 | hp1 | a0001 | c0001 | t0002 | g0011 | AFR | ESN | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG03195 | hp2 | a0001 | c0001 | t0002 | g0032 | AFR | ESN | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG03209 | hp1 | a0001 | c0007 | t0001 | g0001 | AFR | MSL | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG03209 | hp2 | a0001 | c0001 | t0002 | g0006 | AFR | MSL | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG03225 | hp1 | a0001 | c0001 | t0002 | g0006 | AFR | MSL | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG03225 | hp2 | a0001 | c0001 | t0002 | g0026 | AFR | MSL | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG03453 | hp1 | a0001 | c0001 | t0001 | g0047 | AFR | MSL | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG03453 | hp2 | a0001 | c0001 | t0002 | g0036 | AFR | MSL | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG03486 | hp1 | a0003 | c0006 | t0001 | g0001 | AFR | MSL | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG03486 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | MSL | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG03516 | hp1 | a0001 | c0001 | t0002 | g0023 | AFR | ESN | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG03516 | hp2 | a0001 | c0001 | t0002 | g0031 | AFR | ESN | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG03540 | hp1 | a0001 | c0001 | t0001 | g0058 | AFR | GWD | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG03540 | hp2 | a0001 | c0001 | t0002 | g0037 | AFR | GWD | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG03579 | hp1 | a0001 | c0001 | t0002 | g0008 | AFR | MSL | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG03579 | hp2 | a0001 | c0001 | t0001 | g0005 | AFR | MSL | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG03710 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG03710 | hp2 | a0001 | c0001 | t0001 | g0069 | SAS | PJL | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG03927 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | BEB | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG03927 | hp2 | a0001 | c0001 | t0001 | g0067 | SAS | BEB | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG04115 | hp1 | a0001 | c0001 | t0002 | g0015 | SAS | STU | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG04115 | hp2 | a0001 | c0001 | t0001 | g0053 | SAS | STU | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG04184 | hp1 | a0001 | c0001 | t0002 | g0002 | SAS | BEB | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG04184 | hp2 | a0001 | c0001 | t0001 | g0035 | SAS | BEB | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG04199 | hp1 | a0001 | c0001 | t0002 | g0015 | SAS | STU | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG04199 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | STU | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA18522 | hp1 | a0001 | c0001 | t0002 | g0022 | AFR | YRI | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA18522 | hp2 | a0001 | c0001 | t0002 | g0025 | AFR | YRI | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA18906 | hp1 | a0001 | c0001 | t0001 | g0005 | AFR | YRI | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA18906 | hp2 | a0001 | c0001 | t0002 | g0002 | AFR | YRI | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA18939 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA18939 | hp2 | a0001 | c0001 | t0001 | g0056 | EAS | JPT | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA18945 | hp1 | a0001 | c0002 | t0002 | g0027 | EAS | JPT | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA18945 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA18950 | hp1 | a0001 | c0001 | t0001 | g0049 | EAS | JPT | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA18950 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA18951 | hp1 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA18951 | hp2 | a0001 | c0002 | t0002 | g0013 | EAS | JPT | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA18960 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA18960 | hp2 | a0001 | c0001 | t0002 | g0015 | EAS | JPT | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA18961 | hp1 | a0001 | c0002 | t0002 | g0012 | EAS | JPT | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA18961 | hp2 | a0001 | c0001 | t0001 | g0055 | EAS | JPT | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA18975 | hp1 | a0001 | c0001 | t0001 | g0062 | EAS | JPT | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA18975 | hp2 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA18981 | hp1 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA18981 | hp2 | a0001 | c0001 | t0001 | g0050 | EAS | JPT | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA18982 | hp1 | a0001 | c0002 | t0002 | g0033 | EAS | JPT | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA18982 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA18983 | hp1 | a0001 | c0008 | t0001 | g0001 | EAS | JPT | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA18983 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA18988 | hp1 | a0001 | c0002 | t0002 | g0004 | EAS | JPT | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA18988 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA19012 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA19012 | hp2 | a0001 | c0002 | t0002 | g0012 | EAS | JPT | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA19043 | hp1 | a0001 | c0001 | t0001 | g0074 | AFR | LWK | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA19043 | hp2 | a0001 | c0001 | t0001 | g0005 | AFR | LWK | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA19067 | hp1 | a0001 | c0002 | t0002 | g0004 | EAS | JPT | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA19067 | hp2 | a0001 | c0001 | t0001 | g0020 | EAS | JPT | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA19075 | hp1 | a0001 | c0001 | t0001 | g0045 | EAS | JPT | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA19075 | hp2 | a0001 | c0002 | t0002 | g0013 | EAS | JPT | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA19083 | hp1 | a0001 | c0001 | t0001 | g0061 | EAS | JPT | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA19083 | hp2 | a0001 | c0002 | t0002 | g0012 | EAS | JPT | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA19086 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA19086 | hp2 | a0001 | c0002 | t0002 | g0004 | EAS | JPT | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA19240 | hp1 | a0001 | c0001 | t0002 | g0011 | AFR | YRI | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA19240 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | YRI | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA20129 | hp1 | a0001 | c0001 | t0002 | g0003 | AFR | ASW | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA20129 | hp2 | a0001 | c0001 | t0002 | g0016 | AFR | ASW | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA20805 | hp1 | a0001 | c0001 | t0002 | g0002 | EUR | TSI | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA20805 | hp2 | a0001 | c0001 | t0001 | g0001 | EUR | TSI | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02109 | hp1 | a0001 | c0001 | t0002 | g0011 | AFR | ACB | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02109 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02486 | hp1 | a0001 | c0001 | t0002 | g0003 | AFR | ACB | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02486 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02559 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG02559 | hp2 | a0001 | c0001 | t0002 | g0016 | AFR | ACB | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG03471 | hp1 | a0002 | c0005 | t0001 | g0001 | AFR | MSL | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG03471 | hp2 | a0001 | c0001 | t0002 | g0002 | AFR | MSL | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG06807 | hp1 | a0001 | c0001 | t0001 | g0079 | AFR | USA | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| HG06807 | hp2 | a0001 | c0001 | t0002 | g0003 | AFR | USA | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA21309 | hp1 | a0001 | c0001 | t0002 | g0041 | AFR | LWK | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| NA21309 | hp2 | a0001 | c0001 | t0002 | g0039 | AFR | LWK | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0001 | g0001 | REF | REF | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| homoSapiens_grch38 | hp1 | a0001 | c0001 | t0001 | g0001 | REF | REF | PRPF40B_chr12_49618561_49649665 | PRPF40B | chr12 | 49618561 | 49649665 |
| chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12:49642653
|
G | A | 1 | a0002 | 1 | HG03471.hp1 | missense_variant | MODERATE | c.2096G>A | p.Arg699Gln | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 21/26 | 2126/3182 | 2096/2679 | 699/892 | chr12 | 49642653 | ||
| chr12:49643944
|
G | T | 1 | a0003 | 1 | HG03486.hp1 | missense_variant | MODERATE | c.2526G>T | p.Arg842Ser | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 25/26 | 2556/3182 | 2526/2679 | 842/892 | chr12 | 49643944 |
| chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12:49633088
|
G | T | 1 | a0001c0008 | 1 | NA18983.hp1 | synonymous_variant | LOW | c.423G>T | p.Val141Val | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 7/26 | 453/3182 | 423/2679 | 141/892 | chr12 | 49633088 | ||
| chr12:49634063
|
C | T | 1 | a0001c0007 | 1 | HG03209.hp1 | synonymous_variant | LOW | c.783C>T | p.Phe261Phe | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 10/26 | 813/3182 | 783/2679 | 261/892 | chr12 | 49634063 | ||
| chr12:49636835
|
C | A | 1 | a0001c0004 | 1 | HG02040.hp1 | synonymous_variant | LOW | c.1546C>A | p.Arg516Arg | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 16/26 | 1576/3182 | 1546/2679 | 516/892 | chr12 | 49636835 | ||
| chr12:49643288
|
G | A | 1 | a0001c0003 | 2 | HG00639.hp2 HG01358.hp2 |
synonymous_variant | LOW | c.2271G>A | p.Arg757Arg | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 23/26 | 2301/3182 | 2271/2679 | 757/892 | chr12 | 49643288 | ||
| chr12:49643962
|
G | A | 1 | a0001c0002 | 15 | HG00280.hp1 HG02004.hp1 HG02080.hp1 others(12): Show |
synonymous_variant | LOW | c.2544G>A | p.Glu848Glu | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 25/26 | 2574/3182 | 2544/2679 | 848/892 | chr12 | 49643962 |
| chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12:49644488
|
AAG | A | 1 | a0001c0001t0003 | 2 | HG02647.hp1 HG02647.hp2 |
3_prime_UTR_variant | MODIFIER | c.*299_*300delAG | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 26/26 | 299 | INFO_REALIGN_3_PRIME | chr12 | 49644488 | ||||
| chr12:49644509
|
G | A | 3 | a0001c0001t0002a0001c0001t0003a0001c0002t0002 | 87 | HG00280.hp1 HG00639.hp1 HG01109.hp2 others(84): Show |
3_prime_UTR_variant | MODIFIER | c.*317G>A | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 26/26 | 317 | chr12 | 49644509 |
| chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12:49624029
|
T | C | 1 | a0001c0001t0001g0021 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.3+436T>C | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 1/25 | chr12 | 49624029 | ||||||
| chr12:49624093
|
G | A | 1 | a0001c0001t0002g0022 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.3+500G>A | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 1/25 | chr12 | 49624093 | ||||||
| chr12:49624154
|
A | T | 1 | a0001c0001t0001g0080 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.3+561A>T | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 1/25 | chr12 | 49624154 | ||||||
| chr12:49624192
|
G | A | 18 | a0001c0001t0001g0009a0001c0001t0002g0002a0001c0001t0002g0003others(15): Show | 50 | HG00280.hp1 HG00639.hp1 HG01109.hp2 others(47): Show |
intron_variant | MODIFIER | c.3+599G>A | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 1/25 | chr12 | 49624192 | ||||||
| chr12:49624453
|
A | T | 1 | a0001c0001t0001g0079 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.3+860A>T | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 1/25 | chr12 | 49624453 | ||||||
| chr12:49624828
|
A | G | 1 | a0001c0001t0002g0078 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.3+1235A>G | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 1/25 | chr12 | 49624828 | ||||||
| chr12:49624833
|
G | A | 1 | a0001c0001t0001g0035 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.3+1240G>A | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 1/25 | chr12 | 49624833 | ||||||
| chr12:49624845
|
C | CA | 19 | a0001c0001t0001g0014a0001c0001t0001g0038a0001c0001t0001g0040others(16): Show | 34 | HG00280.hp1 HG01074.hp1 HG01433.hp1 others(31): Show |
intron_variant | MODIFIER | c.3+1269dupA | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr12 | 49624845 | |||||
| chr12:49624845
|
C | CAA | 2 | a0001c0001t0002g0003a0001c0001t0002g0023 | 7 | HG01167.hp1 HG02486.hp1 HG02896.hp1 others(4): Show |
intron_variant | MODIFIER | c.3+1268_3+1269dupAA | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr12 | 49624845 | |||||
| chr12:49624996
|
G | A | 4 | a0001c0001t0002g0006a0001c0001t0002g0016a0001c0001t0002g0041others(1): Show | 9 | HG01346.hp1 HG02257.hp2 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.3+1403G>A | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 1/25 | chr12 | 49624996 | ||||||
| chr12:49625018
|
T | C | 1 | a0001c0001t0002g0043 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.3+1425T>C | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 1/25 | chr12 | 49625018 | ||||||
| chr12:49625033
|
T | G | 1 | a0001c0001t0001g0044 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.3+1440T>G | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 1/25 | chr12 | 49625033 | ||||||
| chr12:49625585
|
A | T | 3 | a0001c0001t0001g0040a0001c0001t0001g0076a0001c0001t0001g0077 | 3 | HG01074.hp1 HG01358.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.3+1992A>T | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 1/25 | chr12 | 49625585 | ||||||
| chr12:49625939
|
A | G | 13 | a0001c0001t0001g0074a0001c0001t0001g0079a0001c0001t0002g0008others(10): Show | 19 | HG01891.hp2 HG02109.hp1 HG02258.hp2 others(16): Show |
intron_variant | MODIFIER | c.3+2346A>G | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 1/25 | chr12 | 49625939 | ||||||
| chr12:49625947
|
T | G | 1 | a0001c0001t0002g0070 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.3+2354T>G | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 1/25 | chr12 | 49625947 | ||||||
| chr12:49626111
|
T | C | 39 | a0001c0001t0001g0074a0001c0001t0001g0079a0001c0001t0002g0002others(36): Show | 83 | HG00280.hp1 HG00639.hp1 HG01109.hp2 others(80): Show |
intron_variant | MODIFIER | c.3+2518T>C | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 1/25 | chr12 | 49626111 | ||||||
| chr12:49626184
|
T | G | 34 | a0001c0001t0001g0074a0001c0001t0001g0079a0001c0001t0002g0002others(31): Show | 74 | HG00280.hp1 HG00639.hp1 HG01109.hp2 others(71): Show |
intron_variant | MODIFIER | c.3+2591T>G | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 1/25 | chr12 | 49626184 | ||||||
| chr12:49626262
|
T | A | 1 | a0001c0001t0001g0045 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.3+2669T>A | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 1/25 | chr12 | 49626262 | ||||||
| chr12:49626571
|
T | C | 1 | a0001c0001t0001g0046 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.3+2978T>C | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 1/25 | chr12 | 49626571 | ||||||
| chr12:49626732
|
C | T | 1 | a0001c0001t0001g0005 | 6 | HG02258.hp1 HG02717.hp1 HG02809.hp1 others(3): Show |
intron_variant | MODIFIER | c.3+3139C>T | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 1/25 | chr12 | 49626732 | ||||||
| chr12:49626882
|
T | A | 1 | a0001c0001t0001g0045 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.3+3289T>A | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 1/25 | chr12 | 49626882 | ||||||
| chr12:49626962
|
A | G | 8 | a0001c0001t0002g0008a0001c0001t0002g0011a0001c0001t0002g0039others(5): Show | 14 | HG01891.hp2 HG02109.hp1 HG02258.hp2 others(11): Show |
intron_variant | MODIFIER | c.3+3369A>G | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 1/25 | chr12 | 49626962 | ||||||
| chr12:49626984
|
A | T | 1 | a0001c0001t0002g0034 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.3+3391A>T | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 1/25 | chr12 | 49626984 | ||||||
| chr12:49627763
|
G | C | 1 | a0001c0001t0002g0041 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.4-2782G>C | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 1/25 | chr12 | 49627763 | ||||||
| chr12:49627824
|
G | C | 4 | a0001c0001t0002g0008a0001c0001t0002g0011a0001c0001t0002g0043others(1): Show | 10 | HG01891.hp2 HG02109.hp1 HG02258.hp2 others(7): Show |
intron_variant | MODIFIER | c.4-2721G>C | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 1/25 | chr12 | 49627824 | ||||||
| chr12:49628311
|
A | T | 5 | a0001c0001t0002g0010a0001c0001t0002g0017a0001c0001t0002g0022others(2): Show | 9 | HG01884.hp1 HG02055.hp2 HG02809.hp2 others(6): Show |
intron_variant | MODIFIER | c.4-2234A>T | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 1/25 | chr12 | 49628311 | ||||||
| chr12:49628455
|
C | T | 1 | a0001c0001t0002g0042 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.4-2090C>T | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 1/25 | chr12 | 49628455 | ||||||
| chr12:49628500
|
C | T | 1 | a0001c0001t0001g0069 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.4-2045C>T | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 1/25 | chr12 | 49628500 | ||||||
| chr12:49628562
|
G | GT | 5 | a0001c0001t0001g0020a0001c0001t0001g0068a0001c0001t0002g0023others(2): Show | 6 | HG00642.hp1 HG02080.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.4-1965dupT | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr12 | 49628562 | |||||
| chr12:49628563
|
T | G | 4 | a0001c0001t0002g0010a0001c0001t0002g0017a0001c0001t0002g0022others(1): Show | 8 | HG01884.hp1 HG02055.hp2 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.4-1982T>G | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 1/25 | chr12 | 49628563 | ||||||
| chr12:49628586
|
C | T | 1 | a0001c0001t0002g0070 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.4-1959C>T | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 1/25 | chr12 | 49628586 | ||||||
| chr12:49628609
|
G | A | 2 | a0001c0001t0001g0047a0001c0001t0001g0048 | 2 | HG02630.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.4-1936G>A | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 1/25 | chr12 | 49628609 | ||||||
| chr12:49628630
|
C | T | 5 | a0001c0001t0002g0010a0001c0001t0002g0017a0001c0001t0002g0022others(2): Show | 9 | HG01884.hp1 HG02055.hp2 HG02809.hp2 others(6): Show |
intron_variant | MODIFIER | c.4-1915C>T | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 1/25 | chr12 | 49628630 | ||||||
| chr12:49628833
|
T | C | 5 | a0001c0001t0002g0010a0001c0001t0002g0017a0001c0001t0002g0022others(2): Show | 9 | HG01884.hp1 HG02055.hp2 HG02809.hp2 others(6): Show |
intron_variant | MODIFIER | c.4-1712T>C | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 1/25 | chr12 | 49628833 | ||||||
| chr12:49628856
|
G | A | 1 | a0001c0001t0001g0049 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.4-1689G>A | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 1/25 | chr12 | 49628856 | ||||||
| chr12:49629120
|
G | A | 1 | a0001c0001t0002g0039 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.4-1425G>A | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 1/25 | chr12 | 49629120 | ||||||
| chr12:49629238
|
C | T | 1 | a0001c0001t0001g0067 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.4-1307C>T | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 1/25 | chr12 | 49629238 | ||||||
| chr12:49629312
|
G | A | 1 | a0001c0001t0001g0050 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.4-1233G>A | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 1/25 | chr12 | 49629312 | ||||||
| chr12:49630502
|
C | G | 1 | a0001c0001t0001g0068 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.4-43C>G | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 1/25 | chr12 | 49630502 | ||||||
| chr12:49630676
|
A | C | 1 | a0001c0001t0001g0066 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.84+51A>C | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 2/25 | chr12 | 49630676 | ||||||
| chr12:49630873
|
G | A | 1 | a0001c0001t0001g0009 | 4 | HG01167.hp2 HG01169.hp2 HG02145.hp2 others(1): Show |
intron_variant | MODIFIER | c.84+248G>A | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 2/25 | chr12 | 49630873 | ||||||
| chr12:49631143
|
C | T | 42 | a0001c0001t0001g0009a0001c0001t0001g0065a0001c0001t0001g0074others(39): Show | 89 | HG00099.hp2 HG00280.hp1 HG00639.hp1 others(86): Show |
intron_variant | MODIFIER | c.85-258C>T | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 2/25 | chr12 | 49631143 | ||||||
| chr12:49631154
|
C | T | 1 | a0001c0001t0002g0036 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.85-247C>T | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 2/25 | chr12 | 49631154 | ||||||
| chr12:49631756
|
G | T | 1 | a0001c0001t0002g0015 | 3 | HG04115.hp1 HG04199.hp1 NA18960.hp2 |
intron_variant | MODIFIER | c.229-104G>T | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 3/25 | chr12 | 49631756 | ||||||
| chr12:49632108
|
C | T | 1 | a0001c0001t0001g0062 | 1 | NA18975.hp1 | intron_variant | MODIFIER | c.294+183C>T | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 4/25 | chr12 | 49632108 | ||||||
| chr12:49632114
|
C | T | 2 | a0001c0001t0002g0003a0001c0001t0002g0023 | 7 | HG01167.hp1 HG02486.hp1 HG02896.hp1 others(4): Show |
intron_variant | MODIFIER | c.294+189C>T | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 4/25 | chr12 | 49632114 | ||||||
| chr12:49632215
|
T | C | 5 | a0001c0001t0002g0010a0001c0001t0002g0017a0001c0001t0002g0022others(2): Show | 9 | HG01884.hp1 HG02055.hp2 HG02809.hp2 others(6): Show |
intron_variant | MODIFIER | c.294+290T>C | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 4/25 | chr12 | 49632215 | ||||||
| chr12:49632266
|
C | T | 1 | a0001c0001t0002g0006 | 5 | HG01346.hp1 HG02257.hp2 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.295-330C>T | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 4/25 | chr12 | 49632266 | ||||||
| chr12:49632319
|
T | C | 1 | a0001c0001t0001g0051 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.295-277T>C | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 4/25 | chr12 | 49632319 | ||||||
| chr12:49632358
|
G | A | 1 | a0001c0001t0001g0052 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.295-238G>A | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 4/25 | chr12 | 49632358 | ||||||
| chr12:49632399
|
T | G | 2 | a0001c0001t0002g0003a0001c0001t0002g0023 | 7 | HG01167.hp1 HG02486.hp1 HG02896.hp1 others(4): Show |
intron_variant | MODIFIER | c.295-197T>G | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 4/25 | chr12 | 49632399 | ||||||
| chr12:49632412
|
C | T | 3 | a0001c0001t0002g0010a0001c0001t0002g0022a0001c0001t0002g0036 | 6 | HG01884.hp1 HG02055.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.295-184C>T | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 4/25 | chr12 | 49632412 | ||||||
| chr12:49632640
|
C | T | 7 | a0001c0001t0001g0061a0001c0002t0002g0004a0001c0002t0002g0012others(4): Show | 16 | HG00280.hp1 HG02004.hp1 HG02080.hp1 others(13): Show |
intron_variant | MODIFIER | c.322+17C>T | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 5/25 | chr12 | 49632640 | ||||||
| chr12:49632783
|
C | T | 4 | a0001c0002t0002g0013a0001c0002t0002g0027a0001c0002t0002g0028others(1): Show | 6 | HG02080.hp1 HG02135.hp2 NA18945.hp1 others(3): Show |
intron_variant | MODIFIER | c.323-72C>T | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 5/25 | chr12 | 49632783 | ||||||
| chr12:49632988
|
C | A | 1 | a0001c0001t0001g0053 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.349-26C>A | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 6/25 | chr12 | 49632988 | ||||||
| chr12:49632999
|
C | A | 1 | a0001c0001t0002g0042 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.349-15C>A | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 6/25 | chr12 | 49632999 | ||||||
| chr12:49633005
|
C | T | 2 | a0001c0001t0001g0074a0001c0001t0001g0079 | 2 | HG06807.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.349-9C>T | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 6/25 | chr12 | 49633005 | ||||||
| chr12:49633295
|
T | C | 4 | a0001c0001t0002g0015a0001c0001t0002g0054a0001c0001t0002g0063others(1): Show | 6 | HG02451.hp1 HG03139.hp1 HG03139.hp2 others(3): Show |
intron_variant | MODIFIER | c.460-132T>C | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 7/25 | chr12 | 49633295 | ||||||
| chr12:49633561
|
C | T | 1 | a0001c0001t0001g0060 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.580+14C>T | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 8/25 | chr12 | 49633561 | ||||||
| chr12:49633562
|
G | A | 2 | a0001c0001t0001g0040a0001c0001t0001g0076 | 2 | HG01074.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.580+15G>A | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 8/25 | chr12 | 49633562 | ||||||
| chr12:49634795
|
C | G | 1 | a0001c0001t0003g0073 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1001+193C>G | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 12/25 | chr12 | 49634795 | ||||||
| chr12:49634891
|
G | A | 1 | a0001c0001t0002g0024 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1002-208G>A | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 12/25 | chr12 | 49634891 | ||||||
| chr12:49634894
|
C | T | 2 | a0001c0001t0002g0011a0001c0001t0002g0043 | 5 | HG01891.hp2 HG02109.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.1002-205C>T | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 12/25 | chr12 | 49634894 | ||||||
| chr12:49635549
|
C | T | 1 | a0001c0001t0002g0039 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1275+76C>T | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 14/25 | chr12 | 49635549 | ||||||
| chr12:49635801
|
C | T | 8 | a0001c0001t0002g0008a0001c0001t0002g0011a0001c0001t0002g0039others(5): Show | 14 | HG01891.hp2 HG02109.hp1 HG02258.hp2 others(11): Show |
intron_variant | MODIFIER | c.1276-42C>T | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 14/25 | chr12 | 49635801 | ||||||
| chr12:49636097
|
G | A | 5 | a0001c0001t0002g0010a0001c0001t0002g0017a0001c0001t0002g0022others(2): Show | 9 | HG01884.hp1 HG02055.hp2 HG02809.hp2 others(6): Show |
intron_variant | MODIFIER | c.1426+104G>A | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 15/25 | chr12 | 49636097 | ||||||
| chr12:49636149
|
C | A | 1 | a0001c0001t0002g0041 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1426+156C>A | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 15/25 | chr12 | 49636149 | ||||||
| chr12:49636155
|
A | C | 1 | a0001c0001t0002g0026 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1426+162A>C | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 15/25 | chr12 | 49636155 | ||||||
| chr12:49636197
|
C | T | 1 | a0001c0001t0001g0059 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.1426+204C>T | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 15/25 | chr12 | 49636197 | ||||||
| chr12:49636636
|
C | T | 1 | a0001c0002t0002g0027 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.1427-80C>T | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 15/25 | chr12 | 49636636 | ||||||
| chr12:49636924
|
C | G | 4 | a0001c0001t0002g0010a0001c0001t0002g0022a0001c0001t0002g0036others(1): Show | 7 | HG01884.hp1 HG02055.hp2 HG02976.hp2 others(4): Show |
intron_variant | MODIFIER | c.1560+75C>G | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 16/25 | chr12 | 49636924 | ||||||
| chr12:49636936
|
G | A | 1 | a0001c0001t0001g0067 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.1560+87G>A | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 16/25 | chr12 | 49636936 | ||||||
| chr12:49637031
|
G | A | 1 | a0001c0001t0001g0067 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.1560+182G>A | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 16/25 | chr12 | 49637031 | ||||||
| chr12:49637237
|
G | C | 1 | a0001c0001t0002g0037 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1561-233G>C | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 16/25 | chr12 | 49637237 | ||||||
| chr12:49637654
|
A | C | 5 | a0001c0001t0002g0010a0001c0001t0002g0017a0001c0001t0002g0022others(2): Show | 9 | HG01884.hp1 HG02055.hp2 HG02809.hp2 others(6): Show |
intron_variant | MODIFIER | c.1675+70A>C | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 17/25 | chr12 | 49637654 | ||||||
| chr12:49637697
|
G | C | 1 | a0001c0001t0001g0055 | 1 | NA18961.hp2 | intron_variant | MODIFIER | c.1676-36G>C | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 17/25 | chr12 | 49637697 | ||||||
| chr12:49637717
|
C | T | 1 | a0001c0001t0002g0072 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1676-16C>T | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 17/25 | chr12 | 49637717 | ||||||
| chr12:49638588
|
C | T | 5 | a0001c0001t0002g0010a0001c0001t0002g0017a0001c0001t0002g0022others(2): Show | 9 | HG01884.hp1 HG02055.hp2 HG02809.hp2 others(6): Show |
intron_variant | MODIFIER | c.1767+764C>T | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 18/25 | chr12 | 49638588 | ||||||
| chr12:49638690
|
C | T | 3 | a0001c0001t0002g0006a0001c0001t0002g0016a0001c0001t0002g0041 | 8 | HG01346.hp1 HG02257.hp2 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.1767+866C>T | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 18/25 | chr12 | 49638690 | ||||||
| chr12:49639151
|
C | T | 2 | a0001c0001t0001g0007a0001c0001t0001g0059 | 6 | HG01081.hp2 HG01261.hp1 HG01361.hp2 others(3): Show |
intron_variant | MODIFIER | c.1767+1327C>T | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 18/25 | chr12 | 49639151 | ||||||
| chr12:49639619
|
T | C | 1 | a0001c0001t0001g0038 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.1767+1795T>C | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 18/25 | chr12 | 49639619 | ||||||
| chr12:49639648
|
A | G | 1 | a0001c0002t0002g0028 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.1767+1824A>G | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 18/25 | chr12 | 49639648 | ||||||
| chr12:49639651
|
A | C | 1 | a0001c0001t0001g0053 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1767+1827A>C | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 18/25 | chr12 | 49639651 | ||||||
| chr12:49639758
|
G | C | 1 | a0001c0001t0002g0042 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.1767+1934G>C | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 18/25 | chr12 | 49639758 | ||||||
| chr12:49639890
|
A | G | 5 | a0001c0001t0002g0010a0001c0001t0002g0017a0001c0001t0002g0022others(2): Show | 9 | HG01884.hp1 HG02055.hp2 HG02809.hp2 others(6): Show |
intron_variant | MODIFIER | c.1768-2018A>G | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 18/25 | chr12 | 49639890 | ||||||
| chr12:49639977
|
G | C | 4 | a0001c0001t0002g0010a0001c0001t0002g0022a0001c0001t0002g0036others(1): Show | 7 | HG01884.hp1 HG02055.hp2 HG02976.hp2 others(4): Show |
intron_variant | MODIFIER | c.1768-1931G>C | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 18/25 | chr12 | 49639977 | ||||||
| chr12:49640275
|
A | G | 13 | a0001c0001t0001g0074a0001c0001t0001g0079a0001c0001t0002g0008others(10): Show | 19 | HG01891.hp2 HG02109.hp1 HG02258.hp2 others(16): Show |
intron_variant | MODIFIER | c.1768-1633A>G | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 18/25 | chr12 | 49640275 | ||||||
| chr12:49640448
|
GAAGT | G | 2 | a0001c0001t0001g0074a0001c0001t0001g0079 | 2 | HG06807.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.1768-1455_1768-145 others(8): Show |
PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr12 | 49640448 | |||||
| chr12:49640614
|
G | A | 1 | a0001c0001t0001g0018 | 2 | HG00741.hp1 HG01346.hp2 |
intron_variant | MODIFIER | c.1768-1294G>A | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 18/25 | chr12 | 49640614 | ||||||
| chr12:49640751
|
C | T | 1 | a0001c0001t0001g0019 | 2 | HG01081.hp1 HG01192.hp1 |
intron_variant | MODIFIER | c.1768-1157C>T | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 18/25 | chr12 | 49640751 | ||||||
| chr12:49640885
|
A | G | 43 | a0001c0001t0001g0074a0001c0001t0001g0079a0001c0001t0002g0002others(40): Show | 89 | HG00280.hp1 HG00639.hp1 HG01109.hp2 others(86): Show |
intron_variant | MODIFIER | c.1768-1023A>G | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 18/25 | chr12 | 49640885 | ||||||
| chr12:49640992
|
T | A | 1 | a0001c0001t0001g0056 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.1768-916T>A | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 18/25 | chr12 | 49640992 | ||||||
| chr12:49641069
|
C | T | 1 | a0001c0001t0002g0032 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1768-839C>T | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 18/25 | chr12 | 49641069 | ||||||
| chr12:49641102
|
A | C | 1 | a0001c0001t0001g0058 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.1768-806A>C | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 18/25 | chr12 | 49641102 | ||||||
| chr12:49641113
|
A | T | 1 | a0001c0001t0001g0048 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1768-795A>T | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 18/25 | chr12 | 49641113 | ||||||
| chr12:49641209
|
C | G | 5 | a0001c0001t0002g0010a0001c0001t0002g0017a0001c0001t0002g0022others(2): Show | 9 | HG01884.hp1 HG02055.hp2 HG02809.hp2 others(6): Show |
intron_variant | MODIFIER | c.1768-699C>G | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 18/25 | chr12 | 49641209 | ||||||
| chr12:49641321
|
G | GC | 5 | a0001c0001t0002g0010a0001c0001t0002g0017a0001c0001t0002g0022others(2): Show | 9 | HG01884.hp1 HG02055.hp2 HG02809.hp2 others(6): Show |
intron_variant | MODIFIER | c.1768-580dupC | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr12 | 49641321 | |||||
| chr12:49641494
|
A | G | 1 | a0001c0001t0002g0031 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1768-414A>G | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 18/25 | chr12 | 49641494 | ||||||
| chr12:49641527
|
T | C | 1 | a0001c0001t0001g0057 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.1768-381T>C | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 18/25 | chr12 | 49641527 | ||||||
| chr12:49641627
|
G | C | 1 | a0001c0001t0001g0079 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1768-281G>C | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 18/25 | chr12 | 49641627 | ||||||
| chr12:49642131
|
G | T | 1 | a0001c0001t0002g0064 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.1885-104G>T | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 19/25 | chr12 | 49642131 | ||||||
| chr12:49642382
|
G | A | 1 | a0001c0001t0002g0030 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.2022+10G>A | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 20/25 | chr12 | 49642382 | ||||||
| chr12:49642685
|
G | C | 1 | a0001c0001t0001g0080 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.2118+10G>C | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 21/25 | chr12 | 49642685 | ||||||
| chr12:49642749
|
G | A | 3 | a0001c0001t0002g0006a0001c0001t0002g0016a0001c0001t0002g0041 | 8 | HG01346.hp1 HG02257.hp2 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.2118+74G>A | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 21/25 | chr12 | 49642749 | ||||||
| chr12:49642829
|
C | G | 1 | a0001c0001t0001g0009 | 4 | HG01167.hp2 HG01169.hp2 HG02145.hp2 others(1): Show |
intron_variant | MODIFIER | c.2119-101C>G | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 21/25 | chr12 | 49642829 | ||||||
| chr12:49643626
|
T | C | 1 | a0001c0001t0002g0043 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.2381-65T>C | PRPF40B | ENSG00000110844.14 | transcript | ENST00000548825.7 | protein_coding | 23/25 | chr12 | 49643626 |