| geneid | 100130988 |
|---|---|
| ensemblid | ENSG00000164500.7 |
| hgncid | 22564 |
| symbol | SPATA48 |
| name | sperm microtubule inner protein 7 |
| refseq_nuc | NM_001161834.3 |
| refseq_prot | NP_001155306.3 |
| ensembl_nuc | ENST00000297001.7 |
| ensembl_prot | ENSP00000297001.7 |
| mane_status | MANE Select |
| chr | chr7 |
| start | 50095883 |
| end | 50159256 |
| strand | + |
| ver | v1.2 |
| region | chr7:50095883-50159256 |
| region5000 | chr7:50090883-50164256 |
| regionname0 | SPATA48_chr7_50095883_50159256 |
| regionname5000 | SPATA48_chr7_50090883_50164256 |
| 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 | 0/1 | 438 | 138 | 43 | 28 | 48 | 7 | 11 | 35 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| a0002 | 0/0 | 438 | 89 | 17 | 23 | 26 | 6 | 17 | 19 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| a0003 | 1/0 | 438 | 66 | 15 | 15 | 20 | 3 | 12 | 16 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| a0004 | 0/0 | 438 | 26 | 16 | 0 | 2 | 0 | 8 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| a0005 | 0/0 | 438 | 2 | 0 | 0 | 2 | 0 | 0 | 2 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| a0006 | 0/0 | 438 | 2 | 0 | 2 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| a0007 | 0/0 | 438 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| a0008 | 0/0 | 438 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| a0009 | 0/0 | 438 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| a0010 | 0/0 | 438 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| a0011 | 0/0 | 438 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| 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 | 0/1 | 1317 | 138 | 43 | 28 | 48 | 7 | 11 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| c0002 | 0/0 | 1317 | 71 | 6 | 23 | 24 | 5 | 13 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| c0003 | 1/0 | 1317 | 62 | 11 | 15 | 20 | 3 | 12 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| c0004 | 0/0 | 1317 | 23 | 16 | 0 | 0 | 0 | 7 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| c0005 | 0/0 | 1317 | 16 | 11 | 0 | 0 | 1 | 4 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| c0006 | 0/0 | 1317 | 4 | 4 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| c0007 | 0/0 | 1317 | 3 | 0 | 0 | 2 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| c0008 | 0/0 | 1317 | 2 | 0 | 0 | 2 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| c0009 | 0/0 | 1317 | 2 | 0 | 2 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| c0010 | 0/0 | 1317 | 2 | 0 | 0 | 2 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| c0011 | 0/0 | 1317 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| c0012 | 0/0 | 1317 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| c0013 | 0/0 | 1317 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| c0014 | 0/0 | 1317 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| c0015 | 0/0 | 1317 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| 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 | 291 | 309 | 84 | 62 | 98 | 13 | 50 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| t0002 | 0/0 | 291 | 11 | 1 | 7 | 0 | 3 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| t0003 | 0/0 | 291 | 5 | 5 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| t0004 | 0/0 | 291 | 2 | 1 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| t0005 | 0/0 | 291 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| 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 | 3 | 0 | 3 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0002 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0003 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0004 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0005 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0006 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0007 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0008 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0009 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0010 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0011 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0012 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0013 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0014 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0015 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0016 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0017 | 0/0 | 2 | 1 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0025 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0026 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0035 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0037 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0041 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0050 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0052 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0053 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0056 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0058 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0060 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0062 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0063 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0065 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0066 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0067 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0068 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0074 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0077 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0079 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0081 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0082 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0083 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0085 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0086 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0087 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0093 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0094 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0095 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0099 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0103 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0115 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0116 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0117 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0118 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0120 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0126 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0127 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0132 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0134 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0135 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0136 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0137 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0151 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0152 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0153 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0155 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0156 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0157 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0158 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0159 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0160 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0161 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0162 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0163 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0166 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0169 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0172 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0176 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0179 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0188 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0200 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0201 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0202 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0209 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0210 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0212 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0213 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0217 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0218 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0219 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0220 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0221 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0222 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0223 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0224 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0225 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0227 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0228 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0229 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0230 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0231 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0232 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0233 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0236 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0237 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0238 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0239 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0240 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0241 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0242 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0243 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0244 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0245 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0246 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0247 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0248 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0249 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0250 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0251 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0252 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0253 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0254 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0255 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0256 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0257 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0258 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0259 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0260 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0261 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0262 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0263 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0264 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0265 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0266 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0267 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0268 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0269 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0270 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0271 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0272 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0273 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0274 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0275 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0276 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0277 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0278 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0279 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0280 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0281 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0282 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0283 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0284 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0285 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0286 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0287 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0288 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0289 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0290 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0291 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0292 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0293 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0294 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0295 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0296 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0297 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0298 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0299 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0300 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0301 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0302 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0303 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0304 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0305 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0306 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0307 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0308 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0309 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| g0310 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| 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 | 0/1 | 1317 | 138 | 43 | 28 | 48 | 7 | 11 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| a0002c0002 | 0/0 | 1317 | 71 | 6 | 23 | 24 | 5 | 13 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| a0002c0005 | 0/0 | 1317 | 16 | 11 | 0 | 0 | 1 | 4 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| a0002c0010 | 0/0 | 1317 | 2 | 0 | 0 | 2 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| a0003c0003 | 1/0 | 1317 | 62 | 11 | 15 | 20 | 3 | 12 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| a0003c0006 | 0/0 | 1317 | 4 | 4 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| a0004c0004 | 0/0 | 1317 | 23 | 16 | 0 | 0 | 0 | 7 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| a0004c0007 | 0/0 | 1317 | 3 | 0 | 0 | 2 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| a0005c0008 | 0/0 | 1317 | 2 | 0 | 0 | 2 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| a0006c0009 | 0/0 | 1317 | 2 | 0 | 2 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| a0007c0011 | 0/0 | 1317 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| a0008c0013 | 0/0 | 1317 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| a0009c0012 | 0/0 | 1317 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| a0010c0014 | 0/0 | 1317 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| a0011c0015 | 0/0 | 1317 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/1 | 1607 | 127 | 40 | 23 | 48 | 4 | 11 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| a0001c0001t0002 | 0/0 | 1607 | 9 | 1 | 5 | 0 | 3 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| a0001c0001t0004 | 0/0 | 1607 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| a0001c0001t0005 | 0/0 | 1607 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| a0002c0002t0001 | 0/0 | 1607 | 66 | 1 | 23 | 24 | 5 | 13 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| a0002c0002t0003 | 0/0 | 1607 | 5 | 5 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| a0002c0005t0001 | 0/0 | 1607 | 16 | 11 | 0 | 0 | 1 | 4 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| a0002c0010t0001 | 0/0 | 1607 | 2 | 0 | 0 | 2 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| a0003c0003t0001 | 1/0 | 1607 | 62 | 11 | 15 | 20 | 3 | 12 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| a0003c0006t0001 | 0/0 | 1607 | 4 | 4 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| a0004c0004t0001 | 0/0 | 1607 | 23 | 16 | 0 | 0 | 0 | 7 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| a0004c0007t0001 | 0/0 | 1607 | 3 | 0 | 0 | 2 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| a0005c0008t0001 | 0/0 | 1607 | 2 | 0 | 0 | 2 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| a0006c0009t0002 | 0/0 | 1607 | 2 | 0 | 2 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| a0007c0011t0001 | 0/0 | 1607 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| a0008c0013t0001 | 0/0 | 1607 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| a0009c0012t0001 | 0/0 | 1607 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| a0010c0014t0004 | 0/0 | 1607 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| a0011c0015t0001 | 0/0 | 1607 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | copy fasta | chr7 | 50090883 | 50164256 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0007 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0008 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0009 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0025 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0026 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0115 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0116 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0117 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0120 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0126 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0132 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0134 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0135 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0137 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0156 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0157 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0158 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0159 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0160 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0161 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0162 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0163 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0166 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0169 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0172 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0176 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0179 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0188 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0200 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0201 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0202 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0209 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0212 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0213 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0217 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0218 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0219 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0227 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0228 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0230 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0231 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0232 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0233 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0236 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0237 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0238 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0240 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0001g0290 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0002g0001 | 0/0 | 3 | 0 | 3 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0002g0127 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0002g0151 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0002g0152 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0002g0153 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0002g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0002g0155 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0004g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0001c0001t0005g0222 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0003 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0004 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0005 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0035 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0037 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0050 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0052 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0053 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0056 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0058 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0060 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0062 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0063 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0065 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0077 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0079 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0081 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0085 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0086 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0087 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0093 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0094 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0103 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0118 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0220 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0224 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0241 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0001g0279 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0003g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0003g0242 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0003g0243 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0003g0244 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0002t0003g0245 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0005t0001g0251 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0005t0001g0252 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0005t0001g0253 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0005t0001g0254 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0005t0001g0255 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0005t0001g0256 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0005t0001g0257 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0005t0001g0258 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0005t0001g0259 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0005t0001g0260 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0005t0001g0261 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0005t0001g0262 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0005t0001g0263 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0005t0001g0264 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0005t0001g0306 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0005t0001g0310 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0010t0001g0308 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0002c0010t0001g0309 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0002 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0011 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0012 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0013 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0014 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0015 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0016 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0017 | 0/0 | 2 | 1 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0074 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0246 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0247 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0248 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0249 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0265 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0266 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0267 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0268 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0270 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0271 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0272 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0273 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0274 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0275 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0276 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0277 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0278 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0280 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0281 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0282 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0283 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0284 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0285 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0286 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0287 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0288 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0289 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0291 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0292 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0293 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0294 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0295 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0296 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0297 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0298 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0299 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0300 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0301 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0003t0001g0302 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0006t0001g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0006t0001g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0006t0001g0250 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0003c0006t0001g0303 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0004t0001g0010 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0004t0001g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0004t0001g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0004t0001g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0004t0001g0041 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0004t0001g0066 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0004t0001g0067 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0004t0001g0068 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0004t0001g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0004t0001g0082 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0004t0001g0083 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0004t0001g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0004t0001g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0004t0001g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0004t0001g0095 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0004t0001g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0004t0001g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0004t0001g0221 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0004t0001g0223 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0004t0001g0225 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0004t0001g0229 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0004t0001g0239 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0007t0001g0304 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0007t0001g0305 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0004c0007t0001g0307 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0005c0008t0001g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0005c0008t0001g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0006c0009t0002g0006 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0007c0011t0001g0269 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0008c0013t0001g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0009c0012t0001g0136 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0010c0014t0004g0210 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| a0011c0015t0001g0099 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0002 | c0002 | t0001 | g0093 | EUR | GBR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00099 | hp2 | a0001 | c0001 | t0002 | g0151 | EUR | GBR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00140 | hp1 | a0003 | c0003 | t0001 | g0249 | EUR | GBR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00140 | hp2 | a0001 | c0001 | t0001 | g0115 | EUR | GBR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00280 | hp1 | a0002 | c0005 | t0001 | g0256 | EUR | FIN | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00280 | hp2 | a0001 | c0001 | t0001 | g0188 | EUR | FIN | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00323 | hp1 | a0002 | c0002 | t0001 | g0086 | EUR | FIN | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00323 | hp2 | a0001 | c0001 | t0002 | g0152 | EUR | FIN | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00423 | hp1 | a0002 | c0002 | t0001 | g0101 | EAS | CHS | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00423 | hp2 | a0001 | c0001 | t0001 | g0184 | EAS | CHS | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00597 | hp1 | a0002 | c0002 | t0001 | g0076 | EAS | CHS | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00597 | hp2 | a0001 | c0001 | t0001 | g0107 | EAS | CHS | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0028 | EAS | CHS | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00609 | hp2 | a0002 | c0002 | t0001 | g0241 | EAS | CHS | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00639 | hp1 | a0001 | c0001 | t0001 | g0218 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00639 | hp2 | a0001 | c0001 | t0001 | g0135 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00642 | hp1 | a0003 | c0003 | t0001 | g0016 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00642 | hp2 | a0002 | c0002 | t0001 | g0004 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00733 | hp1 | a0006 | c0009 | t0002 | g0006 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00733 | hp2 | a0003 | c0003 | t0001 | g0283 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00735 | hp1 | a0001 | c0001 | t0002 | g0127 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00735 | hp2 | a0001 | c0001 | t0001 | g0119 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00738 | hp1 | a0003 | c0003 | t0001 | g0248 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00738 | hp2 | a0001 | c0001 | t0002 | g0001 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00741 | hp1 | a0001 | c0001 | t0001 | g0008 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG00741 | hp2 | a0002 | c0002 | t0001 | g0085 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01069 | hp1 | a0001 | c0001 | t0002 | g0001 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01069 | hp2 | a0002 | c0002 | t0001 | g0048 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01070 | hp1 | a0001 | c0001 | t0001 | g0008 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01070 | hp2 | a0003 | c0003 | t0001 | g0013 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01071 | hp1 | a0001 | c0001 | t0002 | g0001 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01071 | hp2 | a0003 | c0003 | t0001 | g0013 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01074 | hp1 | a0003 | c0003 | t0001 | g0296 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01074 | hp2 | a0001 | c0001 | t0001 | g0162 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01081 | hp1 | a0001 | c0001 | t0001 | g0026 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01081 | hp2 | a0002 | c0002 | t0001 | g0051 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01099 | hp1 | a0001 | c0001 | t0001 | g0164 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01099 | hp2 | a0001 | c0001 | t0001 | g0133 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01106 | hp1 | a0002 | c0002 | t0001 | g0087 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01106 | hp2 | a0003 | c0003 | t0001 | g0074 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01109 | hp1 | a0001 | c0001 | t0001 | g0158 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01109 | hp2 | a0007 | c0011 | t0001 | g0269 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01167 | hp1 | a0003 | c0003 | t0001 | g0293 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01167 | hp2 | a0003 | c0003 | t0001 | g0016 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01168 | hp1 | a0003 | c0003 | t0001 | g0291 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01168 | hp2 | a0002 | c0002 | t0001 | g0079 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01175 | hp1 | a0002 | c0002 | t0001 | g0090 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01175 | hp2 | a0002 | c0002 | t0001 | g0004 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01192 | hp1 | a0003 | c0003 | t0001 | g0247 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01192 | hp2 | a0001 | c0001 | t0002 | g0155 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01243 | hp1 | a0001 | c0001 | t0001 | g0029 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01243 | hp2 | a0002 | c0002 | t0001 | g0064 | AMR | PUR | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01255 | hp1 | a0006 | c0009 | t0002 | g0006 | AMR | CLM | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01255 | hp2 | a0002 | c0002 | t0001 | g0055 | AMR | CLM | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01256 | hp1 | a0002 | c0002 | t0001 | g0061 | AMR | CLM | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01256 | hp2 | a0003 | c0003 | t0001 | g0015 | AMR | CLM | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01257 | hp1 | a0003 | c0003 | t0001 | g0292 | AMR | CLM | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01257 | hp2 | a0002 | c0002 | t0001 | g0003 | AMR | CLM | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01258 | hp1 | a0003 | c0003 | t0001 | g0015 | AMR | CLM | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01258 | hp2 | a0002 | c0002 | t0001 | g0003 | AMR | CLM | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01346 | hp1 | a0002 | c0002 | t0001 | g0052 | AMR | CLM | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01346 | hp2 | a0003 | c0003 | t0001 | g0271 | AMR | CLM | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01433 | hp1 | a0001 | c0001 | t0001 | g0213 | AMR | CLM | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01433 | hp2 | a0002 | c0002 | t0001 | g0092 | AMR | CLM | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01496 | hp1 | a0001 | c0001 | t0001 | g0121 | AMR | CLM | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01496 | hp2 | a0002 | c0002 | t0001 | g0049 | AMR | CLM | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01515 | hp1 | a0001 | c0001 | t0001 | g0179 | EUR | IBS | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01515 | hp2 | a0002 | c0002 | t0001 | g0063 | EUR | IBS | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01516 | hp1 | a0002 | c0002 | t0001 | g0062 | EUR | IBS | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01516 | hp2 | a0001 | c0001 | t0001 | g0163 | EUR | IBS | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01884 | hp1 | a0001 | c0001 | t0001 | g0227 | AFR | ACB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01884 | hp2 | a0001 | c0001 | t0001 | g0112 | AFR | ACB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01891 | hp1 | a0004 | c0004 | t0001 | g0010 | AFR | ACB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01891 | hp2 | a0002 | c0005 | t0001 | g0262 | AFR | ACB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01928 | hp1 | a0002 | c0002 | t0001 | g0279 | AMR | PEL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01928 | hp2 | a0001 | c0001 | t0001 | g0148 | AMR | PEL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01934 | hp1 | a0001 | c0001 | t0001 | g0169 | AMR | PEL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01934 | hp2 | a0002 | c0002 | t0001 | g0057 | AMR | PEL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01943 | hp1 | a0002 | c0002 | t0001 | g0220 | AMR | PEL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01943 | hp2 | a0001 | c0001 | t0001 | g0137 | AMR | PEL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01978 | hp1 | a0001 | c0001 | t0001 | g0176 | AMR | PEL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01978 | hp2 | a0002 | c0002 | t0001 | g0081 | AMR | PEL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01981 | hp1 | a0002 | c0002 | t0001 | g0059 | AMR | PEL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01981 | hp2 | a0001 | c0001 | t0001 | g0126 | AMR | PEL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01993 | hp1 | a0002 | c0002 | t0001 | g0040 | AMR | PEL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01993 | hp2 | a0010 | c0014 | t0004 | g0210 | AMR | PEL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02015 | hp1 | a0001 | c0001 | t0001 | g0123 | EAS | KHV | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02015 | hp2 | a0003 | c0003 | t0001 | g0080 | EAS | KHV | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02055 | hp1 | a0001 | c0001 | t0001 | g0194 | AFR | ACB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02055 | hp2 | a0001 | c0001 | t0001 | g0034 | AFR | ACB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02056 | hp1 | a0001 | c0001 | t0001 | g0231 | EAS | KHV | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02056 | hp2 | a0002 | c0002 | t0001 | g0039 | EAS | KHV | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02074 | hp1 | a0003 | c0003 | t0001 | g0267 | EAS | KHV | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02074 | hp2 | a0001 | c0001 | t0001 | g0234 | EAS | KHV | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02080 | hp1 | a0004 | c0007 | t0001 | g0305 | EAS | KHV | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02080 | hp2 | a0001 | c0001 | t0001 | g0171 | EAS | KHV | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02083 | hp1 | a0001 | c0001 | t0001 | g0143 | EAS | KHV | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02083 | hp2 | a0001 | c0001 | t0001 | g0146 | EAS | KHV | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02135 | hp1 | a0004 | c0007 | t0001 | g0304 | EAS | KHV | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02135 | hp2 | a0002 | c0002 | t0001 | g0024 | EAS | KHV | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02145 | hp1 | a0004 | c0004 | t0001 | g0031 | AFR | ACB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02145 | hp2 | a0001 | c0001 | t0001 | g0233 | AFR | ACB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02148 | hp1 | a0001 | c0001 | t0001 | g0157 | AMR | PEL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02148 | hp2 | a0002 | c0002 | t0001 | g0050 | AMR | PEL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02165 | hp1 | a0001 | c0001 | t0001 | g0178 | EAS | CDX | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02165 | hp2 | a0002 | c0010 | t0001 | g0308 | EAS | CDX | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02257 | hp1 | a0004 | c0004 | t0001 | g0032 | AFR | ACB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02257 | hp2 | a0001 | c0001 | t0001 | g0167 | AFR | ACB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02258 | hp1 | a0001 | c0001 | t0001 | g0166 | AFR | ACB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02258 | hp2 | a0004 | c0004 | t0001 | g0104 | AFR | ACB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02280 | hp1 | a0001 | c0001 | t0005 | g0222 | AFR | ACB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02280 | hp2 | a0001 | c0001 | t0001 | g0205 | AFR | ACB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02300 | hp1 | a0001 | c0001 | t0001 | g0201 | AMR | PEL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02300 | hp2 | a0001 | c0001 | t0001 | g0159 | AMR | PEL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02451 | hp1 | a0001 | c0001 | t0001 | g0108 | AFR | ACB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02451 | hp2 | a0004 | c0004 | t0001 | g0088 | AFR | ACB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02523 | hp1 | a0002 | c0010 | t0001 | g0309 | EAS | KHV | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02523 | hp2 | a0001 | c0001 | t0001 | g0189 | EAS | KHV | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02572 | hp1 | a0001 | c0001 | t0002 | g0154 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02572 | hp2 | a0001 | c0001 | t0001 | g0219 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0230 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02602 | hp2 | a0002 | c0002 | t0001 | g0056 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02615 | hp1 | a0001 | c0001 | t0001 | g0110 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02615 | hp2 | a0003 | c0003 | t0001 | g0294 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02622 | hp1 | a0001 | c0001 | t0001 | g0238 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02622 | hp2 | a0002 | c0005 | t0001 | g0251 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02630 | hp1 | a0002 | c0002 | t0003 | g0245 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02630 | hp2 | a0001 | c0001 | t0001 | g0195 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02647 | hp1 | a0001 | c0001 | t0001 | g0217 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02647 | hp2 | a0001 | c0001 | t0001 | g0209 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02683 | hp1 | a0002 | c0002 | t0001 | g0035 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02683 | hp2 | a0001 | c0001 | t0001 | g0117 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02698 | hp1 | a0002 | c0002 | t0001 | g0103 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02698 | hp2 | a0001 | c0001 | t0001 | g0160 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02717 | hp1 | a0003 | c0003 | t0001 | g0268 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02717 | hp2 | a0002 | c0005 | t0001 | g0260 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02723 | hp1 | a0004 | c0004 | t0001 | g0096 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02723 | hp2 | a0003 | c0003 | t0001 | g0265 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02735 | hp1 | a0001 | c0001 | t0001 | g0237 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02735 | hp2 | a0001 | c0001 | t0001 | g0236 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02738 | hp1 | a0009 | c0012 | t0001 | g0136 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02738 | hp2 | a0002 | c0002 | t0001 | g0065 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02809 | hp1 | a0001 | c0001 | t0001 | g0214 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02809 | hp2 | a0004 | c0004 | t0001 | g0089 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02886 | hp1 | a0002 | c0002 | t0003 | g0242 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02886 | hp2 | a0001 | c0001 | t0001 | g0215 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02895 | hp1 | a0002 | c0002 | t0003 | g0244 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02895 | hp2 | a0003 | c0003 | t0001 | g0014 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02896 | hp1 | a0001 | c0001 | t0001 | g0226 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02896 | hp2 | a0001 | c0001 | t0001 | g0007 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02897 | hp1 | a0003 | c0003 | t0001 | g0014 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02897 | hp2 | a0001 | c0001 | t0001 | g0007 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02922 | hp1 | a0002 | c0005 | t0001 | g0253 | AFR | ESN | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02922 | hp2 | a0001 | c0001 | t0001 | g0172 | AFR | ESN | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02965 | hp1 | a0002 | c0005 | t0001 | g0264 | AFR | ESN | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02965 | hp2 | a0001 | c0001 | t0001 | g0114 | AFR | ESN | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02976 | hp1 | a0001 | c0001 | t0001 | g0216 | AFR | ESN | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02976 | hp2 | a0003 | c0003 | t0001 | g0288 | AFR | ESN | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03017 | hp1 | a0002 | c0002 | t0001 | g0224 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03017 | hp2 | a0001 | c0001 | t0001 | g0025 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03041 | hp1 | a0003 | c0006 | t0001 | g0131 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03041 | hp2 | a0001 | c0001 | t0001 | g0200 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03098 | hp1 | a0001 | c0001 | t0001 | g0206 | AFR | MSL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03098 | hp2 | a0003 | c0006 | t0001 | g0211 | AFR | MSL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03130 | hp1 | a0001 | c0001 | t0001 | g0199 | AFR | ESN | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03130 | hp2 | a0001 | c0001 | t0001 | g0290 | AFR | ESN | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03139 | hp1 | a0001 | c0001 | t0001 | g0204 | AFR | ESN | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03139 | hp2 | a0003 | c0006 | t0001 | g0303 | AFR | ESN | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03195 | hp1 | a0008 | c0013 | t0001 | g0109 | AFR | ESN | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03195 | hp2 | a0001 | c0001 | t0001 | g0207 | AFR | ESN | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03209 | hp1 | a0001 | c0001 | t0001 | g0129 | AFR | MSL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03209 | hp2 | a0001 | c0001 | t0001 | g0168 | AFR | MSL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03225 | hp1 | a0004 | c0004 | t0001 | g0225 | AFR | MSL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03225 | hp2 | a0001 | c0001 | t0001 | g0212 | AFR | MSL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03239 | hp1 | a0002 | c0005 | t0001 | g0258 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03239 | hp2 | a0003 | c0003 | t0001 | g0272 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03453 | hp1 | a0003 | c0006 | t0001 | g0250 | AFR | MSL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03453 | hp2 | a0004 | c0004 | t0001 | g0221 | AFR | MSL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03486 | hp1 | a0002 | c0005 | t0001 | g0252 | AFR | MSL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03486 | hp2 | a0001 | c0001 | t0004 | g0106 | AFR | MSL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03490 | hp1 | a0003 | c0003 | t0001 | g0284 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03490 | hp2 | a0002 | c0002 | t0001 | g0005 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03491 | hp1 | a0003 | c0003 | t0001 | g0012 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03491 | hp2 | a0004 | c0004 | t0001 | g0082 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03492 | hp1 | a0003 | c0003 | t0001 | g0012 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03492 | hp2 | a0002 | c0002 | t0001 | g0005 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03516 | hp1 | a0002 | c0005 | t0001 | g0259 | AFR | ESN | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03516 | hp2 | a0002 | c0005 | t0001 | g0261 | AFR | ESN | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03540 | hp1 | a0003 | c0003 | t0001 | g0295 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03540 | hp2 | a0001 | c0001 | t0001 | g0165 | AFR | GWD | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03654 | hp1 | a0003 | c0003 | t0001 | g0011 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03654 | hp2 | a0002 | c0002 | t0001 | g0053 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03669 | hp1 | a0002 | c0002 | t0001 | g0060 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03669 | hp2 | a0001 | c0001 | t0001 | g0202 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03688 | hp1 | a0001 | c0001 | t0001 | g0132 | SAS | STU | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03688 | hp2 | a0004 | c0004 | t0001 | g0095 | SAS | STU | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03704 | hp1 | a0003 | c0003 | t0001 | g0278 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03704 | hp2 | a0002 | c0005 | t0001 | g0306 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03710 | hp1 | a0001 | c0001 | t0001 | g0232 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03710 | hp2 | a0004 | c0004 | t0001 | g0067 | SAS | PJL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03831 | hp1 | a0003 | c0003 | t0001 | g0285 | SAS | BEB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03831 | hp2 | a0002 | c0002 | t0001 | g0037 | SAS | BEB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03834 | hp1 | a0002 | c0002 | t0001 | g0118 | SAS | BEB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03834 | hp2 | a0011 | c0015 | t0001 | g0099 | SAS | BEB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03927 | hp1 | a0004 | c0004 | t0001 | g0083 | SAS | BEB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03927 | hp2 | a0001 | c0001 | t0001 | g0156 | SAS | BEB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03942 | hp1 | a0003 | c0003 | t0001 | g0282 | SAS | BEB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03942 | hp2 | a0004 | c0004 | t0001 | g0066 | SAS | BEB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG04115 | hp1 | a0004 | c0004 | t0001 | g0041 | SAS | STU | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG04115 | hp2 | a0003 | c0003 | t0001 | g0281 | SAS | STU | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG04184 | hp1 | a0002 | c0002 | t0001 | g0094 | SAS | BEB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG04184 | hp2 | a0003 | c0003 | t0001 | g0287 | SAS | BEB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG04199 | hp1 | a0002 | c0005 | t0001 | g0257 | SAS | STU | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG04199 | hp2 | a0003 | c0003 | t0001 | g0273 | SAS | STU | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG04204 | hp1 | a0001 | c0001 | t0001 | g0120 | SAS | STU | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG04204 | hp2 | a0002 | c0002 | t0001 | g0077 | SAS | STU | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG04228 | hp1 | a0004 | c0007 | t0001 | g0307 | SAS | STU | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG04228 | hp2 | a0003 | c0003 | t0001 | g0011 | SAS | STU | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18522 | hp1 | a0001 | c0001 | t0001 | g0111 | AFR | YRI | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18522 | hp2 | a0002 | c0002 | t0003 | g0243 | AFR | YRI | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0192 | EAS | CHB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18612 | hp2 | a0003 | c0003 | t0001 | g0275 | EAS | CHB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18747 | hp1 | a0001 | c0001 | t0001 | g0193 | EAS | CHB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18747 | hp2 | a0003 | c0003 | t0001 | g0276 | EAS | CHB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18906 | hp1 | a0003 | c0003 | t0001 | g0270 | AFR | YRI | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18906 | hp2 | a0003 | c0003 | t0001 | g0289 | AFR | YRI | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18944 | hp1 | a0001 | c0001 | t0001 | g0122 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18944 | hp2 | a0001 | c0001 | t0001 | g0124 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18946 | hp1 | a0003 | c0003 | t0001 | g0020 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18946 | hp2 | a0001 | c0001 | t0001 | g0186 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18947 | hp1 | a0003 | c0003 | t0001 | g0002 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18947 | hp2 | a0001 | c0001 | t0001 | g0170 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18952 | hp1 | a0002 | c0002 | t0001 | g0073 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18952 | hp2 | a0001 | c0001 | t0001 | g0142 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18954 | hp1 | a0002 | c0002 | t0001 | g0045 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18954 | hp2 | a0001 | c0001 | t0001 | g0173 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18962 | hp1 | a0001 | c0001 | t0001 | g0147 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18962 | hp2 | a0002 | c0002 | t0001 | g0075 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18963 | hp1 | a0002 | c0002 | t0001 | g0047 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18963 | hp2 | a0001 | c0001 | t0001 | g0187 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18964 | hp1 | a0001 | c0001 | t0001 | g0130 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18964 | hp2 | a0001 | c0001 | t0001 | g0128 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18972 | hp1 | a0003 | c0003 | t0001 | g0277 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18972 | hp2 | a0001 | c0001 | t0001 | g0182 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18974 | hp1 | a0001 | c0001 | t0001 | g0198 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18974 | hp2 | a0001 | c0001 | t0001 | g0177 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18977 | hp1 | a0002 | c0002 | t0001 | g0071 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18977 | hp2 | a0001 | c0001 | t0001 | g0183 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18978 | hp1 | a0003 | c0003 | t0001 | g0301 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18978 | hp2 | a0001 | c0001 | t0001 | g0141 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18980 | hp1 | a0003 | c0003 | t0001 | g0300 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18980 | hp2 | a0002 | c0002 | t0001 | g0078 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18981 | hp1 | a0001 | c0001 | t0001 | g0185 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18981 | hp2 | a0002 | c0002 | t0001 | g0038 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18988 | hp1 | a0001 | c0001 | t0001 | g0181 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18988 | hp2 | a0003 | c0003 | t0001 | g0002 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18991 | hp1 | a0001 | c0001 | t0001 | g0191 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18991 | hp2 | a0002 | c0002 | t0001 | g0046 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18995 | hp1 | a0002 | c0002 | t0001 | g0044 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18995 | hp2 | a0001 | c0001 | t0001 | g0030 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18997 | hp1 | a0002 | c0002 | t0001 | g0036 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA18997 | hp2 | a0001 | c0001 | t0001 | g0180 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19002 | hp1 | a0002 | c0002 | t0001 | g0043 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19002 | hp2 | a0001 | c0001 | t0001 | g0145 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19007 | hp1 | a0001 | c0001 | t0001 | g0139 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19007 | hp2 | a0001 | c0001 | t0001 | g0125 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19011 | hp1 | a0001 | c0001 | t0001 | g0197 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19011 | hp2 | a0002 | c0002 | t0001 | g0054 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19012 | hp1 | a0003 | c0003 | t0001 | g0022 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19012 | hp2 | a0001 | c0001 | t0001 | g0009 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19030 | hp1 | a0001 | c0001 | t0001 | g0138 | AFR | LWK | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19030 | hp2 | a0001 | c0001 | t0001 | g0240 | AFR | LWK | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19043 | hp1 | a0001 | c0001 | t0001 | g0228 | AFR | LWK | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19043 | hp2 | a0004 | c0004 | t0001 | g0084 | AFR | LWK | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19056 | hp1 | a0003 | c0003 | t0001 | g0280 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19056 | hp2 | a0001 | c0001 | t0001 | g0235 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19057 | hp1 | a0001 | c0001 | t0001 | g0027 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19057 | hp2 | a0002 | c0002 | t0001 | g0070 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19058 | hp1 | a0002 | c0002 | t0001 | g0042 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19058 | hp2 | a0001 | c0001 | t0001 | g0174 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19060 | hp1 | a0002 | c0002 | t0001 | g0100 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19060 | hp2 | a0003 | c0003 | t0001 | g0274 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19063 | hp1 | a0002 | c0002 | t0001 | g0102 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19063 | hp2 | a0001 | c0001 | t0001 | g0149 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19064 | hp1 | a0002 | c0002 | t0001 | g0097 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19064 | hp2 | a0003 | c0003 | t0001 | g0297 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19065 | hp1 | a0002 | c0002 | t0001 | g0091 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19065 | hp2 | a0001 | c0001 | t0001 | g0203 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19072 | hp1 | a0001 | c0001 | t0001 | g0175 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19072 | hp2 | a0003 | c0003 | t0001 | g0302 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19077 | hp1 | a0003 | c0003 | t0001 | g0298 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19077 | hp2 | a0001 | c0001 | t0001 | g0144 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19079 | hp1 | a0001 | c0001 | t0001 | g0150 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19079 | hp2 | a0003 | c0003 | t0001 | g0299 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19083 | hp1 | a0003 | c0003 | t0001 | g0019 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19083 | hp2 | a0001 | c0001 | t0001 | g0009 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19084 | hp1 | a0002 | c0002 | t0001 | g0098 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19084 | hp2 | a0003 | c0003 | t0001 | g0021 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19087 | hp1 | a0005 | c0008 | t0001 | g0190 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19087 | hp2 | a0001 | c0001 | t0001 | g0196 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19089 | hp1 | a0003 | c0003 | t0001 | g0023 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19089 | hp2 | a0005 | c0008 | t0001 | g0208 | EAS | JPT | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19240 | hp1 | a0003 | c0003 | t0001 | g0266 | AFR | YRI | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA19240 | hp2 | a0002 | c0005 | t0001 | g0263 | AFR | YRI | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA20129 | hp1 | a0004 | c0004 | t0001 | g0069 | AFR | ASW | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA20129 | hp2 | a0002 | c0002 | t0003 | g0018 | AFR | ASW | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA20752 | hp1 | a0003 | c0003 | t0001 | g0286 | EUR | TSI | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA20752 | hp2 | a0001 | c0001 | t0002 | g0153 | EUR | TSI | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA20805 | hp1 | a0002 | c0002 | t0001 | g0058 | EUR | TSI | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA20805 | hp2 | a0003 | c0003 | t0001 | g0017 | EUR | TSI | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA20905 | hp1 | a0002 | c0005 | t0001 | g0310 | SAS | GIH | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA20905 | hp2 | a0004 | c0004 | t0001 | g0068 | SAS | GIH | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01123 | hp1 | a0001 | c0001 | t0001 | g0134 | AMR | CLM | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG01123 | hp2 | a0001 | c0001 | t0001 | g0140 | AMR | CLM | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02486 | hp1 | a0004 | c0004 | t0001 | g0229 | AFR | ACB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02486 | hp2 | a0003 | c0003 | t0001 | g0017 | AFR | ACB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02559 | hp1 | a0004 | c0004 | t0001 | g0239 | AFR | ACB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG02559 | hp2 | a0004 | c0004 | t0001 | g0033 | AFR | ACB | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03471 | hp1 | a0001 | c0001 | t0001 | g0113 | AFR | MSL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG03471 | hp2 | a0004 | c0004 | t0001 | g0223 | AFR | MSL | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG06807 | hp1 | a0004 | c0004 | t0001 | g0010 | AFR | USA | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| HG06807 | hp2 | a0002 | c0005 | t0001 | g0254 | AFR | USA | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA20300 | hp1 | a0001 | c0001 | t0001 | g0105 | AFR | USA | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA20300 | hp2 | a0001 | c0001 | t0001 | g0161 | AFR | USA | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA21309 | hp1 | a0002 | c0005 | t0001 | g0255 | AFR | LWK | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| NA21309 | hp2 | a0002 | c0002 | t0001 | g0072 | AFR | LWK | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0001 | g0116 | REF | REF | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| homoSapiens_grch38 | hp1 | a0003 | c0003 | t0001 | g0246 | REF | REF | SPATA48_chr7_50090883_50164256 | SPATA48 | chr7 | 50090883 | 50164256 |
| chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:50096335
|
T | C | 1 | a0007 | 1 | HG01109.hp2 | missense_variant | MODERATE | c.250T>C | p.Tyr84His | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/9 | 453/1607 | 250/1317 | 84/438 | chr7 | 50096335 | ||
| chr7:50096380
|
G | T | 1 | a0011 | 1 | HG03834.hp2 | missense_variant | MODERATE | c.295G>T | p.Asp99Tyr | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/9 | 498/1607 | 295/1317 | 99/438 | chr7 | 50096380 | ||
| chr7:50096560
|
C | A | 1 | a0005 | 2 | NA19087.hp1 NA19089.hp2 |
missense_variant | MODERATE | c.475C>A | p.Leu159Ile | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/9 | 678/1607 | 475/1317 | 159/438 | chr7 | 50096560 | ||
| chr7:50104347
|
A | C | 1 | a0006 | 2 | HG00733.hp1 HG01255.hp1 |
missense_variant | MODERATE | c.587A>C | p.Gln196Pro | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/9 | 790/1607 | 587/1317 | 196/438 | chr7 | 50104347 | ||
| chr7:50104364
|
C | T | 1 | a0008 | 1 | HG03195.hp1 | missense_variant | MODERATE | c.604C>T | p.Arg202Cys | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/9 | 807/1607 | 604/1317 | 202/438 | chr7 | 50104364 | ||
| chr7:50134181
|
A | G | 7 | a0001a0004a0005others(4): Show | 171 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(168): Show |
missense_variant | MODERATE | c.802A>G | p.Thr268Ala | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/9 | 1005/1607 | 802/1317 | 268/438 | chr7 | 50134181 | ||
| chr7:50136164
|
T | G | 1 | a0009 | 1 | HG02738.hp1 | missense_variant&splice_region_variant | MODERATE | c.934T>G | p.Phe312Val | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/9 | 1137/1607 | 934/1317 | 312/438 | chr7 | 50136164 | ||
| chr7:50141302
|
T | A | 1 | a0010 | 1 | HG01993.hp2 | missense_variant | MODERATE | c.999T>A | p.Asn333Lys | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/9 | 1202/1607 | 999/1317 | 333/438 | chr7 | 50141302 | ||
| chr7:50141376
|
C | T | 4 | a0002a0004a0010others(1): Show | 117 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(114): Show |
missense_variant | MODERATE | c.1073C>T | p.Thr358Ile | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/9 | 1276/1607 | 1073/1317 | 358/438 | chr7 | 50141376 | ||
| chr7:50159256
|
G | A | 1 | a0001 | 1 | HG02280.hp1 | splice_region_variant | LOW | c.*87G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 9/9 | chr7 | 50159256 |
| chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:50104342
|
C | T | 5 | a0002c0005a0002c0010a0003c0006others(2): Show | 26 | HG00280.hp1 HG01891.hp2 HG01993.hp2 others(23): Show |
synonymous_variant | LOW | c.582C>T | p.Pro194Pro | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/9 | 785/1607 | 582/1317 | 194/438 | chr7 | 50104342 | ||
| chr7:50141374
|
T | C | 1 | a0002c0010 | 2 | HG02165.hp2 HG02523.hp1 |
synonymous_variant | LOW | c.1071T>C | p.Tyr357Tyr | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/9 | 1274/1607 | 1071/1317 | 357/438 | chr7 | 50141374 |
| chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:50095961
|
G | A | 1 | a0002c0002t0003 | 5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
5_prime_UTR_variant | MODIFIER | c.-125G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/9 | 125 | chr7 | 50095961 | |||||
| chr7:50096036
|
G | A | 2 | a0001c0001t0002a0006c0009t0002 | 11 | HG00099.hp2 HG00323.hp2 HG00733.hp1 others(8): Show |
5_prime_UTR_variant | MODIFIER | c.-50G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/9 | 50 | chr7 | 50096036 | |||||
| chr7:50159176
|
C | A | 2 | a0001c0001t0004a0010c0014t0004 | 2 | HG01993.hp2 HG03486.hp2 |
3_prime_UTR_variant | MODIFIER | c.*7C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 9/9 | 7 | chr7 | 50159176 |
| chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:50096850
|
C | A | 1 | a0002c0002t0003g0018 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.553+212C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50096850 | ||||||
| chr7:50097061
|
G | A | 6 | a0003c0003t0001g0002a0003c0003t0001g0019a0003c0003t0001g0020others(3): Show | 7 | NA18946.hp1 NA18947.hp1 NA18988.hp2 others(4): Show |
intron_variant | MODIFIER | c.553+423G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50097061 | ||||||
| chr7:50097067
|
T | G | 227 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(224): Show | 237 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(234): Show |
intron_variant | MODIFIER | c.553+429T>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50097067 | ||||||
| chr7:50097072
|
G | A | 5 | a0002c0002t0003g0018a0002c0002t0003g0242a0002c0002t0003g0243others(2): Show | 5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.553+434G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50097072 | ||||||
| chr7:50097073
|
G | A | 5 | a0002c0002t0003g0018a0002c0002t0003g0242a0002c0002t0003g0243others(2): Show | 5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.553+435G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50097073 | ||||||
| chr7:50097298
|
C | A | 1 | a0002c0002t0003g0242 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.553+660C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50097298 | ||||||
| chr7:50097311
|
A | G | 306 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(303): Show | 324 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(321): Show |
intron_variant | MODIFIER | c.553+673A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50097311 | ||||||
| chr7:50097347
|
T | G | 247 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(244): Show | 257 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.553+709T>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50097347 | ||||||
| chr7:50097409
|
G | A | 1 | a0002c0002t0001g0024 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.553+771G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50097409 | ||||||
| chr7:50097440
|
A | G | 7 | a0002c0005t0001g0306a0002c0005t0001g0310a0002c0010t0001g0308others(4): Show | 7 | HG02080.hp1 HG02135.hp1 HG02165.hp2 others(4): Show |
intron_variant | MODIFIER | c.553+802A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50097440 | ||||||
| chr7:50097605
|
T | C | 2 | a0003c0003t0001g0265a0003c0003t0001g0266 | 2 | HG02723.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.553+967T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50097605 | ||||||
| chr7:50097683
|
T | TA | 7 | a0001c0001t0001g0232a0001c0001t0001g0233a0001c0001t0001g0234others(4): Show | 7 | HG02074.hp2 HG02145.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.553+1060dupA | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | 50097683 | |||||
| chr7:50097683
|
T | TAA | 131 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(128): Show | 138 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(135): Show |
intron_variant | MODIFIER | c.553+1059_553+1060d others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | 50097683 | |||||
| chr7:50097683
|
T | TAAA | 86 | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0027others(83): Show | 89 | HG00099.hp1 HG00323.hp1 HG00423.hp1 others(86): Show |
intron_variant | MODIFIER | c.553+1058_553+1060d others(5): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | 50097683 | |||||
| chr7:50097683
|
TA | T | 25 | a0002c0002t0003g0018a0002c0002t0003g0245a0002c0005t0001g0251others(22): Show | 25 | HG00280.hp1 HG01891.hp2 HG02080.hp1 others(22): Show |
intron_variant | MODIFIER | c.553+1060delA | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | 50097683 | |||||
| chr7:50097866
|
G | A | 5 | a0002c0002t0003g0018a0002c0002t0003g0242a0002c0002t0003g0243others(2): Show | 5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.553+1228G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50097866 | ||||||
| chr7:50098072
|
G | T | 255 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(252): Show | 265 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(262): Show |
intron_variant | MODIFIER | c.553+1434G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50098072 | ||||||
| chr7:50098141
|
T | TC | 247 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(244): Show | 257 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.553+1503_553+1504i others(3): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50098141 | ||||||
| chr7:50098278
|
C | T | 2 | a0001c0001t0001g0105a0001c0001t0004g0106 | 2 | HG03486.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.553+1640C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50098278 | ||||||
| chr7:50098279
|
A | G | 232 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(229): Show | 242 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(239): Show |
intron_variant | MODIFIER | c.553+1641A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50098279 | ||||||
| chr7:50098314
|
C | A | 5 | a0002c0005t0001g0251a0002c0005t0001g0252a0002c0005t0001g0253others(2): Show | 5 | HG02622.hp2 HG02922.hp1 HG03486.hp1 others(2): Show |
intron_variant | MODIFIER | c.553+1676C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50098314 | ||||||
| chr7:50098560
|
G | A | 1 | a0001c0001t0001g0107 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.553+1922G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50098560 | ||||||
| chr7:50098781
|
C | T | 7 | a0002c0005t0001g0306a0002c0005t0001g0310a0002c0010t0001g0308others(4): Show | 7 | HG02080.hp1 HG02135.hp1 HG02165.hp2 others(4): Show |
intron_variant | MODIFIER | c.553+2143C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50098781 | ||||||
| chr7:50098838
|
T | TGG | 247 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(244): Show | 257 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.553+2205_553+2206d others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | 50098838 | |||||
| chr7:50099190
|
T | C | 1 | a0003c0003t0001g0267 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.553+2552T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50099190 | ||||||
| chr7:50099203
|
T | C | 232 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(229): Show | 242 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(239): Show |
intron_variant | MODIFIER | c.553+2565T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50099203 | ||||||
| chr7:50099239
|
C | T | 15 | a0002c0005t0001g0251a0002c0005t0001g0252a0002c0005t0001g0253others(12): Show | 15 | HG00280.hp1 HG01891.hp2 HG02622.hp2 others(12): Show |
intron_variant | MODIFIER | c.553+2601C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50099239 | ||||||
| chr7:50099779
|
C | T | 2 | a0001c0001t0001g0230a0001c0001t0001g0231 | 2 | HG02056.hp1 HG02602.hp1 |
intron_variant | MODIFIER | c.553+3141C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50099779 | ||||||
| chr7:50099898
|
A | C | 5 | a0001c0001t0001g0226a0001c0001t0001g0227a0001c0001t0001g0228others(2): Show | 5 | HG01884.hp1 HG02258.hp2 HG02486.hp1 others(2): Show |
intron_variant | MODIFIER | c.553+3260A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50099898 | ||||||
| chr7:50099960
|
G | A | 15 | a0002c0005t0001g0251a0002c0005t0001g0252a0002c0005t0001g0253others(12): Show | 15 | HG00280.hp1 HG01891.hp2 HG02622.hp2 others(12): Show |
intron_variant | MODIFIER | c.553+3322G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50099960 | ||||||
| chr7:50100341
|
C | T | 81 | a0001c0001t0005g0222a0002c0002t0001g0003a0002c0002t0001g0004others(78): Show | 85 | HG00099.hp1 HG00323.hp1 HG00423.hp1 others(82): Show |
intron_variant | MODIFIER | c.553+3703C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50100341 | ||||||
| chr7:50100640
|
G | A | 1 | a0003c0006t0001g0303 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.554-3674G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50100640 | ||||||
| chr7:50100808
|
T | C | 12 | a0001c0001t0001g0108a0001c0001t0001g0110a0001c0001t0001g0111others(9): Show | 12 | HG01884.hp1 HG01884.hp2 HG02258.hp2 others(9): Show |
intron_variant | MODIFIER | c.554-3506T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50100808 | ||||||
| chr7:50100811
|
A | C | 7 | a0002c0005t0001g0306a0002c0005t0001g0310a0002c0010t0001g0308others(4): Show | 7 | HG02080.hp1 HG02135.hp1 HG02165.hp2 others(4): Show |
intron_variant | MODIFIER | c.554-3503A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50100811 | ||||||
| chr7:50100812
|
A | AAAATAAA others(1): Show |
20 | a0001c0001t0001g0034a0001c0001t0001g0215a0001c0001t0001g0216others(17): Show | 21 | HG00423.hp1 HG00639.hp1 HG01891.hp2 others(18): Show |
intron_variant | MODIFIER | c.554-3476_554-3469d others(10): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | 50100812 | |||||
| chr7:50100812
|
A | AAAATAAA others(5): Show |
30 | a0001c0001t0001g0030a0001c0001t0001g0105a0001c0001t0001g0114others(27): Show | 30 | HG01433.hp1 HG01993.hp2 HG02145.hp1 others(27): Show |
intron_variant | MODIFIER | c.554-3480_554-3469d others(14): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | 50100812 | |||||
| chr7:50100812
|
A | AAAATAAA others(9): Show |
95 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(92): Show | 99 | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(96): Show |
intron_variant | MODIFIER | c.554-3484_554-3469d others(18): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | 50100812 | |||||
| chr7:50100812
|
A | AAAATAAA others(13): Show |
81 | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0108others(78): Show | 86 | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(83): Show |
intron_variant | MODIFIER | c.554-3488_554-3469d others(22): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | 50100812 | |||||
| chr7:50100812
|
A | AAAATAAA others(17): Show |
8 | a0001c0001t0001g0126a0001c0001t0001g0128a0001c0001t0001g0129others(5): Show | 8 | HG00735.hp1 HG01981.hp2 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.554-3492_554-3469d others(26): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | 50100812 | |||||
| chr7:50100812
|
AAAAT | A | 61 | a0001c0001t0001g0290a0002c0002t0001g0279a0002c0005t0001g0306others(58): Show | 69 | HG00140.hp1 HG00642.hp1 HG00733.hp2 others(66): Show |
intron_variant | MODIFIER | c.554-3472_554-3469d others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | 50100812 | |||||
| chr7:50100820
|
T | TAAATAAA others(6): Show |
9 | a0001c0001t0001g0025a0001c0001t0001g0115a0001c0001t0001g0116others(6): Show | 9 | HG00140.hp2 HG00735.hp2 HG01496.hp1 others(6): Show |
intron_variant | MODIFIER | c.554-3491_554-3479d others(15): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | 50100820 | |||||
| chr7:50100828
|
T | TAAATA | 4 | a0001c0001t0001g0122a0001c0001t0001g0123a0001c0001t0001g0124others(1): Show | 4 | HG02015.hp1 NA18944.hp1 NA18944.hp2 others(1): Show |
intron_variant | MODIFIER | c.554-3483_554-3479d others(7): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | 50100828 | |||||
| chr7:50100870
|
C | A | 232 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(229): Show | 242 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(239): Show |
intron_variant | MODIFIER | c.554-3444C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50100870 | ||||||
| chr7:50101031
|
C | T | 2 | a0001c0001t0001g0164a0001c0001t0001g0201 | 2 | HG01099.hp1 HG02300.hp1 |
intron_variant | MODIFIER | c.554-3283C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50101031 | ||||||
| chr7:50101097
|
C | T | 5 | a0002c0002t0003g0018a0002c0002t0003g0242a0002c0002t0003g0243others(2): Show | 5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.554-3217C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50101097 | ||||||
| chr7:50101149
|
T | C | 247 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(244): Show | 257 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.554-3165T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50101149 | ||||||
| chr7:50101157
|
T | C | 247 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(244): Show | 257 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.554-3157T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50101157 | ||||||
| chr7:50101160
|
G | A | 1 | a0003c0006t0001g0131 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.554-3154G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50101160 | ||||||
| chr7:50101208
|
A | G | 247 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(244): Show | 257 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.554-3106A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50101208 | ||||||
| chr7:50101373
|
C | T | 1 | a0003c0006t0001g0250 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.554-2941C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50101373 | ||||||
| chr7:50101419
|
C | G | 1 | a0002c0005t0001g0261 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.554-2895C>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50101419 | ||||||
| chr7:50101472
|
T | C | 247 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(244): Show | 257 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.554-2842T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50101472 | ||||||
| chr7:50101716
|
A | G | 232 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(229): Show | 242 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(239): Show |
intron_variant | MODIFIER | c.554-2598A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50101716 | ||||||
| chr7:50101925
|
C | A | 232 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(229): Show | 242 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(239): Show |
intron_variant | MODIFIER | c.554-2389C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50101925 | ||||||
| chr7:50101939
|
T | G | 1 | a0003c0006t0001g0250 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.554-2375T>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50101939 | ||||||
| chr7:50102478
|
C | G | 5 | a0002c0002t0001g0004a0002c0002t0001g0062a0002c0002t0001g0063others(2): Show | 6 | HG00099.hp1 HG00642.hp2 HG01175.hp2 others(3): Show |
intron_variant | MODIFIER | c.554-1836C>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50102478 | ||||||
| chr7:50102558
|
C | T | 1 | a0004c0004t0001g0239 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.554-1756C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50102558 | ||||||
| chr7:50102842
|
C | T | 227 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(224): Show | 237 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(234): Show |
intron_variant | MODIFIER | c.554-1472C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50102842 | ||||||
| chr7:50102848
|
T | C | 3 | a0002c0005t0001g0256a0002c0005t0001g0257a0002c0005t0001g0258 | 3 | HG00280.hp1 HG03239.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.554-1466T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50102848 | ||||||
| chr7:50102938
|
C | T | 5 | a0002c0002t0003g0018a0002c0002t0003g0242a0002c0002t0003g0243others(2): Show | 5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.554-1376C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50102938 | ||||||
| chr7:50102958
|
A | C | 232 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(229): Show | 242 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(239): Show |
intron_variant | MODIFIER | c.554-1356A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50102958 | ||||||
| chr7:50103052
|
T | TTA | 10 | a0002c0002t0003g0018a0002c0002t0003g0242a0002c0002t0003g0243others(7): Show | 10 | HG00280.hp1 HG02630.hp1 HG02886.hp1 others(7): Show |
intron_variant | MODIFIER | c.554-1249_554-1248d others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | 50103052 | |||||
| chr7:50103052
|
T | TTATA | 208 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(205): Show | 218 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(215): Show |
intron_variant | MODIFIER | c.554-1251_554-1248d others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | 50103052 | |||||
| chr7:50103052
|
T | TTTTA | 15 | a0001c0001t0001g0034a0001c0001t0001g0105a0001c0001t0001g0200others(12): Show | 15 | HG01433.hp1 HG01993.hp2 HG02055.hp2 others(12): Show |
intron_variant | MODIFIER | c.554-1261_554-1260i others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | 50103052 | |||||
| chr7:50103066
|
A | AAT | 11 | a0002c0005t0001g0251a0002c0005t0001g0252a0002c0005t0001g0253others(8): Show | 11 | HG01891.hp2 HG02622.hp2 HG02717.hp2 others(8): Show |
intron_variant | MODIFIER | c.554-1240_554-1239d others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | 50103066 | |||||
| chr7:50103066
|
A | AT | 7 | a0002c0005t0001g0306a0002c0005t0001g0310a0002c0010t0001g0308others(4): Show | 7 | HG02080.hp1 HG02135.hp1 HG02165.hp2 others(4): Show |
intron_variant | MODIFIER | c.554-1248_554-1247i others(3): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50103066 | ||||||
| chr7:50103068
|
T | A | 7 | a0002c0005t0001g0306a0002c0005t0001g0310a0002c0010t0001g0308others(4): Show | 7 | HG02080.hp1 HG02135.hp1 HG02165.hp2 others(4): Show |
intron_variant | MODIFIER | c.554-1246T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50103068 | ||||||
| chr7:50103240
|
A | G | 2 | a0001c0001t0001g0105a0001c0001t0004g0106 | 2 | HG03486.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.554-1074A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50103240 | ||||||
| chr7:50103357
|
T | C | 11 | a0002c0005t0001g0251a0002c0005t0001g0252a0002c0005t0001g0253others(8): Show | 11 | HG01891.hp2 HG02622.hp2 HG02717.hp2 others(8): Show |
intron_variant | MODIFIER | c.554-957T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50103357 | ||||||
| chr7:50103447
|
T | C | 247 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(244): Show | 257 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.554-867T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50103447 | ||||||
| chr7:50103548
|
G | A | 2 | a0001c0001t0001g0116a0001c0001t0001g0232 | 2 | HG03710.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.554-766G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50103548 | ||||||
| chr7:50103651
|
C | G | 1 | a0002c0002t0001g0092 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.554-663C>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50103651 | ||||||
| chr7:50103988
|
T | A | 232 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(229): Show | 242 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(239): Show |
intron_variant | MODIFIER | c.554-326T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50103988 | ||||||
| chr7:50104019
|
T | C | 247 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(244): Show | 257 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.554-295T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50104019 | ||||||
| chr7:50104080
|
C | T | 2 | a0001c0001t0001g0240a0004c0004t0001g0239 | 2 | HG02559.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.554-234C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50104080 | ||||||
| chr7:50104120
|
G | A | 247 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(244): Show | 257 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.554-194G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50104120 | ||||||
| chr7:50104127
|
G | A | 19 | a0001c0001t0001g0007a0001c0001t0001g0165a0001c0001t0001g0166others(16): Show | 20 | HG00280.hp1 HG01891.hp2 HG02257.hp2 others(17): Show |
intron_variant | MODIFIER | c.554-187G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | chr7 | 50104127 | ||||||
| chr7:50104427
|
G | A | 4 | a0001c0001t0001g0026a0001c0001t0001g0133a0001c0001t0001g0134others(1): Show | 4 | HG00639.hp2 HG01081.hp1 HG01099.hp2 others(1): Show |
intron_variant | MODIFIER | c.651+16G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50104427 | ||||||
| chr7:50104435
|
T | A | 1 | a0002c0002t0001g0037 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.651+24T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50104435 | ||||||
| chr7:50104463
|
T | TTA | 237 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(234): Show | 247 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(244): Show |
intron_variant | MODIFIER | c.651+63_651+64dupTA | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50104463 | |||||
| chr7:50104531
|
A | G | 13 | a0003c0003t0001g0002a0003c0003t0001g0019a0003c0003t0001g0020others(10): Show | 14 | HG02074.hp1 NA18946.hp1 NA18947.hp1 others(11): Show |
intron_variant | MODIFIER | c.651+120A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50104531 | ||||||
| chr7:50104598
|
A | G | 1 | a0008c0013t0001g0109 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.651+187A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50104598 | ||||||
| chr7:50104815
|
C | T | 1 | a0001c0001t0001g0125 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.651+404C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50104815 | ||||||
| chr7:50104853
|
T | C | 1 | a0001c0001t0001g0240 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.651+442T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50104853 | ||||||
| chr7:50104885
|
C | A | 1 | a0001c0001t0001g0168 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.651+474C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50104885 | ||||||
| chr7:50104930
|
A | G | 11 | a0002c0005t0001g0251a0002c0005t0001g0252a0002c0005t0001g0253others(8): Show | 11 | HG01891.hp2 HG02622.hp2 HG02717.hp2 others(8): Show |
intron_variant | MODIFIER | c.651+519A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50104930 | ||||||
| chr7:50104933
|
C | T | 1 | a0002c0005t0001g0310 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.651+522C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50104933 | ||||||
| chr7:50104989
|
A | G | 2 | a0002c0005t0001g0260a0002c0005t0001g0261 | 2 | HG02717.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.651+578A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50104989 | ||||||
| chr7:50105175
|
T | C | 2 | a0002c0005t0001g0260a0002c0005t0001g0261 | 2 | HG02717.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.651+764T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50105175 | ||||||
| chr7:50105231
|
T | C | 255 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(252): Show | 265 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(262): Show |
intron_variant | MODIFIER | c.651+820T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50105231 | ||||||
| chr7:50105332
|
C | G | 1 | a0001c0001t0001g0200 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.651+921C>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50105332 | ||||||
| chr7:50105404
|
C | A | 232 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(229): Show | 242 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(239): Show |
intron_variant | MODIFIER | c.651+993C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50105404 | ||||||
| chr7:50105411
|
A | G | 232 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(229): Show | 242 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(239): Show |
intron_variant | MODIFIER | c.651+1000A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50105411 | ||||||
| chr7:50105427
|
T | C | 224 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(221): Show | 234 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(231): Show |
intron_variant | MODIFIER | c.651+1016T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50105427 | ||||||
| chr7:50105586
|
C | T | 1 | a0011c0015t0001g0099 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.651+1175C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50105586 | ||||||
| chr7:50105675
|
T | G | 232 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(229): Show | 242 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(239): Show |
intron_variant | MODIFIER | c.651+1264T>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50105675 | ||||||
| chr7:50105904
|
A | C | 23 | a0002c0005t0001g0251a0002c0005t0001g0252a0002c0005t0001g0253others(20): Show | 23 | HG00280.hp1 HG01891.hp2 HG02080.hp1 others(20): Show |
intron_variant | MODIFIER | c.651+1493A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50105904 | ||||||
| chr7:50106062
|
A | G | 23 | a0002c0005t0001g0251a0002c0005t0001g0252a0002c0005t0001g0253others(20): Show | 23 | HG00280.hp1 HG01891.hp2 HG02080.hp1 others(20): Show |
intron_variant | MODIFIER | c.651+1651A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50106062 | ||||||
| chr7:50106297
|
T | C | 2 | a0002c0005t0001g0260a0002c0005t0001g0261 | 2 | HG02717.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.651+1886T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50106297 | ||||||
| chr7:50106597
|
C | A | 227 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(224): Show | 237 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(234): Show |
intron_variant | MODIFIER | c.651+2186C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50106597 | ||||||
| chr7:50106717
|
A | G | 1 | a0001c0001t0001g0029 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.651+2306A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50106717 | ||||||
| chr7:50106793
|
C | T | 227 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(224): Show | 237 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(234): Show |
intron_variant | MODIFIER | c.651+2382C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50106793 | ||||||
| chr7:50106970
|
C | G | 1 | a0001c0001t0001g0209 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.651+2559C>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50106970 | ||||||
| chr7:50107243
|
C | T | 1 | a0001c0001t0001g0199 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.651+2832C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50107243 | ||||||
| chr7:50107269
|
T | C | 4 | a0002c0005t0001g0251a0002c0005t0001g0252a0002c0005t0001g0253others(1): Show | 4 | HG02622.hp2 HG02922.hp1 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.651+2858T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50107269 | ||||||
| chr7:50107288
|
G | A | 1 | a0003c0006t0001g0250 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.651+2877G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50107288 | ||||||
| chr7:50107305
|
G | A | 4 | a0001c0001t0001g0034a0004c0004t0001g0031a0004c0004t0001g0032others(1): Show | 4 | HG02055.hp2 HG02145.hp1 HG02257.hp1 others(1): Show |
intron_variant | MODIFIER | c.651+2894G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50107305 | ||||||
| chr7:50107362
|
C | CA | 17 | a0002c0005t0001g0252a0002c0005t0001g0253a0002c0005t0001g0254others(14): Show | 17 | HG00280.hp1 HG01109.hp2 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.651+2974dupA | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50107362 | |||||
| chr7:50107362
|
C | CAA | 7 | a0002c0002t0003g0018a0002c0002t0003g0242a0002c0002t0003g0243others(4): Show | 7 | HG02622.hp2 HG02630.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.651+2973_651+2974d others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50107362 | |||||
| chr7:50107380
|
A | G | 1 | a0002c0002t0001g0091 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.651+2969A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50107380 | ||||||
| chr7:50107382
|
AAAAG | A | 20 | a0001c0001t0001g0026a0001c0001t0001g0107a0001c0001t0001g0132others(17): Show | 20 | HG00597.hp2 HG01081.hp1 HG01934.hp1 others(17): Show |
intron_variant | MODIFIER | c.651+2975_651+2978d others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50107382 | |||||
| chr7:50107392
|
AAAAG | A | 201 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(198): Show | 211 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(208): Show |
intron_variant | MODIFIER | c.651+2985_651+2988d others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50107392 | |||||
| chr7:50107401
|
A | G | 201 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(198): Show | 211 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(208): Show |
intron_variant | MODIFIER | c.651+2990A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50107401 | ||||||
| chr7:50107402
|
G | A | 201 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(198): Show | 211 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(208): Show |
intron_variant | MODIFIER | c.651+2991G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50107402 | ||||||
| chr7:50107402
|
G | GA | 46 | a0001c0001t0001g0026a0001c0001t0001g0107a0001c0001t0001g0114others(43): Show | 46 | HG00280.hp1 HG00597.hp2 HG01081.hp1 others(43): Show |
intron_variant | MODIFIER | c.651+3003dupA | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50107402 | |||||
| chr7:50107628
|
A | G | 227 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(224): Show | 237 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(234): Show |
intron_variant | MODIFIER | c.651+3217A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50107628 | ||||||
| chr7:50107663
|
C | T | 227 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(224): Show | 237 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(234): Show |
intron_variant | MODIFIER | c.651+3252C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50107663 | ||||||
| chr7:50107694
|
G | A | 3 | a0003c0006t0001g0131a0003c0006t0001g0211a0010c0014t0004g0210 | 3 | HG01993.hp2 HG03041.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.651+3283G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50107694 | ||||||
| chr7:50107699
|
G | A | 227 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(224): Show | 237 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(234): Show |
intron_variant | MODIFIER | c.651+3288G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50107699 | ||||||
| chr7:50107717
|
G | A | 1 | a0001c0001t0001g0034 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.651+3306G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50107717 | ||||||
| chr7:50107734
|
C | G | 227 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(224): Show | 237 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(234): Show |
intron_variant | MODIFIER | c.651+3323C>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50107734 | ||||||
| chr7:50107753
|
A | G | 227 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(224): Show | 237 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(234): Show |
intron_variant | MODIFIER | c.651+3342A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50107753 | ||||||
| chr7:50107798
|
C | A | 227 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(224): Show | 237 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(234): Show |
intron_variant | MODIFIER | c.651+3387C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50107798 | ||||||
| chr7:50108003
|
G | A | 227 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(224): Show | 237 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(234): Show |
intron_variant | MODIFIER | c.651+3592G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50108003 | ||||||
| chr7:50108168
|
A | G | 23 | a0002c0005t0001g0251a0002c0005t0001g0252a0002c0005t0001g0253others(20): Show | 23 | HG00280.hp1 HG01891.hp2 HG02080.hp1 others(20): Show |
intron_variant | MODIFIER | c.651+3757A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50108168 | ||||||
| chr7:50108282
|
G | A | 227 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(224): Show | 237 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(234): Show |
intron_variant | MODIFIER | c.651+3871G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50108282 | ||||||
| chr7:50108339
|
T | C | 227 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(224): Show | 237 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(234): Show |
intron_variant | MODIFIER | c.651+3928T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50108339 | ||||||
| chr7:50108402
|
G | A | 227 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(224): Show | 237 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(234): Show |
intron_variant | MODIFIER | c.651+3991G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50108402 | ||||||
| chr7:50108447
|
C | T | 3 | a0003c0006t0001g0131a0003c0006t0001g0211a0010c0014t0004g0210 | 3 | HG01993.hp2 HG03041.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.651+4036C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50108447 | ||||||
| chr7:50108454
|
C | T | 8 | a0003c0003t0001g0017a0003c0003t0001g0270a0003c0003t0001g0271others(5): Show | 9 | HG01074.hp1 HG01167.hp1 HG01257.hp1 others(6): Show |
intron_variant | MODIFIER | c.651+4043C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50108454 | ||||||
| chr7:50108518
|
C | G | 255 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(252): Show | 265 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(262): Show |
intron_variant | MODIFIER | c.651+4107C>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50108518 | ||||||
| chr7:50108635
|
ATGATGAC others(6): Show |
A | 1 | a0001c0001t0001g0198 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.651+4230_651+4242d others(15): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50108635 | |||||
| chr7:50108646
|
A | G | 226 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(223): Show | 236 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(233): Show |
intron_variant | MODIFIER | c.651+4235A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50108646 | ||||||
| chr7:50108747
|
G | T | 1 | a0001c0001t0001g0130 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.651+4336G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50108747 | ||||||
| chr7:50108779
|
A | C | 282 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(279): Show | 298 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(295): Show |
intron_variant | MODIFIER | c.651+4368A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50108779 | ||||||
| chr7:50108867
|
T | A | 6 | a0004c0004t0001g0041a0004c0004t0001g0066a0004c0004t0001g0067others(3): Show | 6 | HG03688.hp2 HG03710.hp2 HG03834.hp2 others(3): Show |
intron_variant | MODIFIER | c.651+4456T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50108867 | ||||||
| chr7:50108883
|
C | T | 1 | a0002c0002t0003g0018 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.651+4472C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50108883 | ||||||
| chr7:50109059
|
T | C | 227 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(224): Show | 237 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(234): Show |
intron_variant | MODIFIER | c.651+4648T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50109059 | ||||||
| chr7:50109063
|
T | C | 227 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(224): Show | 237 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(234): Show |
intron_variant | MODIFIER | c.651+4652T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50109063 | ||||||
| chr7:50109128
|
T | C | 1 | a0002c0002t0001g0091 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.651+4717T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50109128 | ||||||
| chr7:50109141
|
T | C | 1 | a0001c0001t0001g0169 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.651+4730T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50109141 | ||||||
| chr7:50109176
|
A | C | 255 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(252): Show | 265 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(262): Show |
intron_variant | MODIFIER | c.651+4765A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50109176 | ||||||
| chr7:50109177
|
A | G | 255 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(252): Show | 265 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(262): Show |
intron_variant | MODIFIER | c.651+4766A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50109177 | ||||||
| chr7:50109242
|
A | G | 3 | a0001c0001t0001g0009a0001c0001t0001g0197a0005c0008t0001g0208 | 4 | NA19011.hp1 NA19012.hp2 NA19083.hp2 others(1): Show |
intron_variant | MODIFIER | c.651+4831A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50109242 | ||||||
| chr7:50109362
|
AATTT | A | 28 | a0002c0002t0003g0018a0002c0002t0003g0242a0002c0002t0003g0243others(25): Show | 28 | HG00280.hp1 HG01891.hp2 HG02080.hp1 others(25): Show |
intron_variant | MODIFIER | c.651+4981_651+4984d others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50109362 | |||||
| chr7:50109362
|
AATTTATT others(1): Show |
A | 227 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(224): Show | 237 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(234): Show |
intron_variant | MODIFIER | c.651+4977_651+4984d others(10): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50109362 | |||||
| chr7:50109370
|
T | A | 10 | a0002c0005t0001g0256a0002c0005t0001g0257a0002c0005t0001g0258others(7): Show | 10 | HG00280.hp1 HG02080.hp1 HG02135.hp1 others(7): Show |
intron_variant | MODIFIER | c.651+4959T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50109370 | ||||||
| chr7:50109374
|
T | A | 234 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(231): Show | 244 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(241): Show |
intron_variant | MODIFIER | c.651+4963T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50109374 | ||||||
| chr7:50109378
|
T | A | 224 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(221): Show | 234 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(231): Show |
intron_variant | MODIFIER | c.651+4967T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50109378 | ||||||
| chr7:50109382
|
T | A | 11 | a0002c0002t0001g0036a0002c0002t0001g0038a0002c0002t0001g0042others(8): Show | 12 | HG01891.hp1 HG01993.hp2 HG03041.hp1 others(9): Show |
intron_variant | MODIFIER | c.651+4971T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50109382 | ||||||
| chr7:50109390
|
T | C | 4 | a0004c0004t0001g0069a0004c0004t0001g0088a0004c0004t0001g0089others(1): Show | 4 | HG02451.hp2 HG02723.hp1 HG02809.hp2 others(1): Show |
intron_variant | MODIFIER | c.651+4979T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50109390 | ||||||
| chr7:50109429
|
G | A | 1 | a0001c0001t0001g0110 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.651+5018G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50109429 | ||||||
| chr7:50109449
|
C | A | 1 | a0004c0004t0001g0221 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.651+5038C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50109449 | ||||||
| chr7:50109546
|
T | G | 5 | a0002c0002t0003g0018a0002c0002t0003g0242a0002c0002t0003g0243others(2): Show | 5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.651+5135T>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50109546 | ||||||
| chr7:50109594
|
C | T | 2 | a0001c0001t0001g0108a0001c0001t0001g0110 | 2 | HG02451.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.651+5183C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50109594 | ||||||
| chr7:50109616
|
C | A | 3 | a0002c0002t0001g0047a0002c0002t0001g0070a0002c0002t0001g0071 | 3 | NA18963.hp1 NA18977.hp1 NA19057.hp2 |
intron_variant | MODIFIER | c.651+5205C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50109616 | ||||||
| chr7:50110052
|
G | A | 2 | a0001c0001t0001g0025a0001c0001t0001g0117 | 2 | HG02683.hp2 HG03017.hp2 |
intron_variant | MODIFIER | c.651+5641G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50110052 | ||||||
| chr7:50110169
|
T | A | 4 | a0002c0005t0001g0256a0002c0005t0001g0257a0002c0005t0001g0258others(1): Show | 4 | HG00280.hp1 HG03239.hp1 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.651+5758T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50110169 | ||||||
| chr7:50110544
|
A | G | 1 | a0003c0003t0001g0291 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.651+6133A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50110544 | ||||||
| chr7:50110642
|
ATATAT | A | 3 | a0003c0006t0001g0131a0003c0006t0001g0211a0010c0014t0004g0210 | 3 | HG01993.hp2 HG03041.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.651+6237_651+6241d others(7): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50110642 | |||||
| chr7:50110652
|
T | C | 3 | a0003c0006t0001g0131a0003c0006t0001g0211a0010c0014t0004g0210 | 3 | HG01993.hp2 HG03041.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.651+6241T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50110652 | ||||||
| chr7:50110668
|
C | T | 227 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(224): Show | 237 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(234): Show |
intron_variant | MODIFIER | c.651+6257C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50110668 | ||||||
| chr7:50110691
|
T | C | 3 | a0001c0001t0001g0212a0001c0001t0001g0213a0001c0001t0001g0214 | 3 | HG01433.hp1 HG02809.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.651+6280T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50110691 | ||||||
| chr7:50110706
|
A | T | 3 | a0002c0002t0001g0061a0002c0002t0001g0086a0002c0002t0001g0087 | 3 | HG00323.hp1 HG01106.hp1 HG01256.hp1 |
intron_variant | MODIFIER | c.651+6295A>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50110706 | ||||||
| chr7:50110732
|
ATAT | A | 224 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(221): Show | 234 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(231): Show |
intron_variant | MODIFIER | c.651+6325_651+6327d others(5): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50110732 | |||||
| chr7:50110747
|
A | G | 11 | a0002c0005t0001g0251a0002c0005t0001g0252a0002c0005t0001g0253others(8): Show | 11 | HG01891.hp2 HG02622.hp2 HG02717.hp2 others(8): Show |
intron_variant | MODIFIER | c.651+6336A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50110747 | ||||||
| chr7:50110799
|
T | C | 2 | a0003c0003t0001g0281a0003c0003t0001g0282 | 2 | HG03942.hp1 HG04115.hp2 |
intron_variant | MODIFIER | c.651+6388T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50110799 | ||||||
| chr7:50110812
|
A | ATATAATA others(25): Show |
41 | a0001c0001t0001g0108a0001c0001t0001g0110a0001c0001t0001g0111others(38): Show | 41 | HG00280.hp1 HG01884.hp1 HG01884.hp2 others(38): Show |
intron_variant | MODIFIER | c.651+6415_651+6446d others(34): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50110812 | |||||
| chr7:50110812
|
A | ATATAATA others(23): Show |
1 | a0003c0006t0001g0303 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.651+6417_651+6418i others(32): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50110812 | |||||
| chr7:50110869
|
C | T | 5 | a0002c0002t0003g0018a0002c0002t0003g0242a0002c0002t0003g0243others(2): Show | 5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.651+6458C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50110869 | ||||||
| chr7:50111025
|
GTATAT | G | 4 | a0001c0001t0001g0169a0001c0001t0001g0173a0001c0001t0001g0174others(1): Show | 4 | HG01934.hp1 NA18954.hp2 NA19058.hp2 others(1): Show |
intron_variant | MODIFIER | c.651+6620_651+6624d others(7): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50111025 | |||||
| chr7:50111171
|
G | A | 2 | a0003c0003t0001g0292a0003c0003t0001g0293 | 2 | HG01167.hp1 HG01257.hp1 |
intron_variant | MODIFIER | c.651+6760G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50111171 | ||||||
| chr7:50111886
|
C | T | 1 | a0002c0002t0001g0065 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.651+7475C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50111886 | ||||||
| chr7:50111887
|
G | A | 1 | a0001c0001t0001g0117 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.651+7476G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50111887 | ||||||
| chr7:50111906
|
G | T | 227 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(224): Show | 237 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(234): Show |
intron_variant | MODIFIER | c.651+7495G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50111906 | ||||||
| chr7:50111955
|
C | T | 2 | a0001c0001t0001g0164a0001c0001t0001g0201 | 2 | HG01099.hp1 HG02300.hp1 |
intron_variant | MODIFIER | c.651+7544C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50111955 | ||||||
| chr7:50111981
|
A | G | 1 | a0001c0001t0001g0115 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.651+7570A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50111981 | ||||||
| chr7:50112118
|
G | T | 1 | a0002c0002t0001g0224 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.651+7707G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50112118 | ||||||
| chr7:50112374
|
A | G | 3 | a0003c0006t0001g0131a0003c0006t0001g0211a0010c0014t0004g0210 | 3 | HG01993.hp2 HG03041.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.651+7963A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50112374 | ||||||
| chr7:50112420
|
A | G | 227 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(224): Show | 237 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(234): Show |
intron_variant | MODIFIER | c.651+8009A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50112420 | ||||||
| chr7:50112433
|
C | T | 2 | a0002c0005t0001g0256a0002c0005t0001g0258 | 2 | HG00280.hp1 HG03239.hp1 |
intron_variant | MODIFIER | c.651+8022C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50112433 | ||||||
| chr7:50112510
|
C | T | 23 | a0002c0005t0001g0251a0002c0005t0001g0252a0002c0005t0001g0253others(20): Show | 23 | HG00280.hp1 HG01891.hp2 HG02080.hp1 others(20): Show |
intron_variant | MODIFIER | c.651+8099C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50112510 | ||||||
| chr7:50112522
|
TA | T | 227 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(224): Show | 237 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(234): Show |
intron_variant | MODIFIER | c.651+8118delA | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50112522 | |||||
| chr7:50112571
|
C | T | 1 | a0002c0005t0001g0257 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.651+8160C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50112571 | ||||||
| chr7:50112878
|
G | A | 224 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(221): Show | 234 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(231): Show |
intron_variant | MODIFIER | c.651+8467G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50112878 | ||||||
| chr7:50112914
|
A | G | 227 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(224): Show | 237 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(234): Show |
intron_variant | MODIFIER | c.651+8503A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50112914 | ||||||
| chr7:50112947
|
AT | A | 227 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(224): Show | 237 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(234): Show |
intron_variant | MODIFIER | c.651+8537delT | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50112947 | ||||||
| chr7:50112952
|
A | T | 255 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(252): Show | 265 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(262): Show |
intron_variant | MODIFIER | c.651+8541A>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50112952 | ||||||
| chr7:50112959
|
A | G | 227 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(224): Show | 237 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(234): Show |
intron_variant | MODIFIER | c.651+8548A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50112959 | ||||||
| chr7:50112987
|
C | T | 227 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(224): Show | 237 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(234): Show |
intron_variant | MODIFIER | c.651+8576C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50112987 | ||||||
| chr7:50113026
|
A | G | 2 | a0003c0003t0001g0265a0003c0003t0001g0266 | 2 | HG02723.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.651+8615A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50113026 | ||||||
| chr7:50113079
|
G | A | 224 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(221): Show | 234 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(231): Show |
intron_variant | MODIFIER | c.651+8668G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50113079 | ||||||
| chr7:50113158
|
C | T | 48 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0025others(45): Show | 50 | HG00140.hp2 HG00639.hp1 HG00639.hp2 others(47): Show |
intron_variant | MODIFIER | c.651+8747C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50113158 | ||||||
| chr7:50113349
|
C | CAT | 227 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(224): Show | 237 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(234): Show |
intron_variant | MODIFIER | c.651+8939_651+8940i others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50113349 | |||||
| chr7:50113635
|
C | T | 226 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(223): Show | 236 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(233): Show |
intron_variant | MODIFIER | c.651+9224C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50113635 | ||||||
| chr7:50113655
|
C | T | 2 | a0001c0001t0001g0112a0001c0001t0001g0113 | 2 | HG01884.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.651+9244C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50113655 | ||||||
| chr7:50113685
|
C | T | 2 | a0001c0001t0001g0025a0001c0001t0001g0117 | 2 | HG02683.hp2 HG03017.hp2 |
intron_variant | MODIFIER | c.651+9274C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50113685 | ||||||
| chr7:50113771
|
C | A | 226 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(223): Show | 236 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(233): Show |
intron_variant | MODIFIER | c.651+9360C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50113771 | ||||||
| chr7:50113852
|
A | T | 1 | a0002c0002t0001g0085 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.651+9441A>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50113852 | ||||||
| chr7:50113983
|
C | G | 226 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(223): Show | 236 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(233): Show |
intron_variant | MODIFIER | c.651+9572C>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50113983 | ||||||
| chr7:50114461
|
G | A | 14 | a0001c0001t0001g0008a0001c0001t0001g0026a0001c0001t0001g0128others(11): Show | 15 | HG00639.hp2 HG00741.hp1 HG01070.hp1 others(12): Show |
intron_variant | MODIFIER | c.651+10050G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50114461 | ||||||
| chr7:50114564
|
A | C | 1 | a0004c0004t0001g0239 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.651+10153A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50114564 | ||||||
| chr7:50114572
|
A | C | 1 | a0002c0002t0001g0004 | 2 | HG00642.hp2 HG01175.hp2 |
intron_variant | MODIFIER | c.651+10161A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50114572 | ||||||
| chr7:50114664
|
CT | C | 3 | a0003c0006t0001g0131a0003c0006t0001g0211a0010c0014t0004g0210 | 3 | HG01993.hp2 HG03041.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.651+10254delT | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50114664 | ||||||
| chr7:50114665
|
T | C | 223 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(220): Show | 233 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(230): Show |
intron_variant | MODIFIER | c.651+10254T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50114665 | ||||||
| chr7:50114722
|
G | A | 11 | a0002c0005t0001g0251a0002c0005t0001g0252a0002c0005t0001g0253others(8): Show | 11 | HG01891.hp2 HG02622.hp2 HG02717.hp2 others(8): Show |
intron_variant | MODIFIER | c.651+10311G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50114722 | ||||||
| chr7:50114748
|
A | T | 2 | a0001c0001t0001g0122a0001c0001t0001g0193 | 2 | NA18747.hp1 NA18944.hp1 |
intron_variant | MODIFIER | c.651+10337A>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50114748 | ||||||
| chr7:50114751
|
C | T | 24 | a0002c0002t0001g0118a0002c0005t0001g0251a0002c0005t0001g0252others(21): Show | 24 | HG00280.hp1 HG01891.hp2 HG02080.hp1 others(21): Show |
intron_variant | MODIFIER | c.651+10340C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50114751 | ||||||
| chr7:50114788
|
G | C | 6 | a0001c0001t0001g0034a0001c0001t0001g0105a0001c0001t0004g0106others(3): Show | 6 | HG02055.hp2 HG02145.hp1 HG02257.hp1 others(3): Show |
intron_variant | MODIFIER | c.651+10377G>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50114788 | ||||||
| chr7:50114942
|
G | A | 255 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(252): Show | 265 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(262): Show |
intron_variant | MODIFIER | c.651+10531G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50114942 | ||||||
| chr7:50114971
|
A | C | 2 | a0001c0001t0001g0105a0001c0001t0004g0106 | 2 | HG03486.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.651+10560A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50114971 | ||||||
| chr7:50114979
|
G | A | 2 | a0001c0001t0001g0240a0004c0004t0001g0239 | 2 | HG02559.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.651+10568G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50114979 | ||||||
| chr7:50115030
|
CA | C | 99 | a0001c0001t0001g0034a0001c0001t0001g0105a0001c0001t0001g0162others(96): Show | 103 | HG00099.hp1 HG00323.hp1 HG00423.hp1 others(100): Show |
intron_variant | MODIFIER | c.651+10636delA | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50115030 | |||||
| chr7:50115282
|
A | G | 81 | a0001c0001t0005g0222a0002c0002t0001g0003a0002c0002t0001g0004others(78): Show | 85 | HG00099.hp1 HG00323.hp1 HG00423.hp1 others(82): Show |
intron_variant | MODIFIER | c.651+10871A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50115282 | ||||||
| chr7:50115568
|
G | T | 255 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(252): Show | 265 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(262): Show |
intron_variant | MODIFIER | c.651+11157G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50115568 | ||||||
| chr7:50115632
|
T | G | 226 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(223): Show | 236 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(233): Show |
intron_variant | MODIFIER | c.651+11221T>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50115632 | ||||||
| chr7:50115689
|
G | A | 3 | a0003c0006t0001g0131a0003c0006t0001g0211a0010c0014t0004g0210 | 3 | HG01993.hp2 HG03041.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.651+11278G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50115689 | ||||||
| chr7:50115787
|
G | C | 8 | a0003c0003t0001g0017a0003c0003t0001g0270a0003c0003t0001g0271others(5): Show | 9 | HG01074.hp1 HG01167.hp1 HG01257.hp1 others(6): Show |
intron_variant | MODIFIER | c.651+11376G>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50115787 | ||||||
| chr7:50115855
|
G | A | 223 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(220): Show | 233 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(230): Show |
intron_variant | MODIFIER | c.651+11444G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50115855 | ||||||
| chr7:50115887
|
T | A | 1 | a0001c0001t0001g0168 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.651+11476T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50115887 | ||||||
| chr7:50115898
|
C | T | 81 | a0001c0001t0005g0222a0002c0002t0001g0003a0002c0002t0001g0004others(78): Show | 85 | HG00099.hp1 HG00323.hp1 HG00423.hp1 others(82): Show |
intron_variant | MODIFIER | c.651+11487C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50115898 | ||||||
| chr7:50115938
|
G | A | 1 | a0008c0013t0001g0109 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.651+11527G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50115938 | ||||||
| chr7:50116093
|
A | G | 226 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(223): Show | 236 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(233): Show |
intron_variant | MODIFIER | c.651+11682A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50116093 | ||||||
| chr7:50116259
|
G | C | 5 | a0002c0002t0003g0018a0002c0002t0003g0242a0002c0002t0003g0243others(2): Show | 5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.651+11848G>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50116259 | ||||||
| chr7:50116348
|
T | C | 255 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(252): Show | 265 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(262): Show |
intron_variant | MODIFIER | c.651+11937T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50116348 | ||||||
| chr7:50116621
|
T | A | 6 | a0001c0001t0001g0034a0001c0001t0001g0105a0001c0001t0004g0106others(3): Show | 6 | HG02055.hp2 HG02145.hp1 HG02257.hp1 others(3): Show |
intron_variant | MODIFIER | c.651+12210T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50116621 | ||||||
| chr7:50116729
|
T | A | 1 | a0001c0001t0001g0209 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.651+12318T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50116729 | ||||||
| chr7:50116734
|
A | G | 1 | a0001c0001t0001g0209 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.651+12323A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50116734 | ||||||
| chr7:50116796
|
T | C | 1 | a0001c0001t0001g0173 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.651+12385T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50116796 | ||||||
| chr7:50116922
|
G | T | 160 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(157): Show | 167 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(164): Show |
intron_variant | MODIFIER | c.651+12511G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50116922 | ||||||
| chr7:50116936
|
C | G | 8 | a0002c0002t0001g0118a0002c0005t0001g0306a0002c0005t0001g0310others(5): Show | 8 | HG02080.hp1 HG02135.hp1 HG02165.hp2 others(5): Show |
intron_variant | MODIFIER | c.651+12525C>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50116936 | ||||||
| chr7:50116941
|
C | T | 1 | a0002c0002t0003g0018 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.651+12530C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50116941 | ||||||
| chr7:50117201
|
C | T | 1 | a0002c0002t0001g0241 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.652-12516C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50117201 | ||||||
| chr7:50117320
|
C | G | 255 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(252): Show | 265 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(262): Show |
intron_variant | MODIFIER | c.652-12397C>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50117320 | ||||||
| chr7:50117344
|
G | A | 3 | a0003c0006t0001g0131a0003c0006t0001g0211a0010c0014t0004g0210 | 3 | HG01993.hp2 HG03041.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.652-12373G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50117344 | ||||||
| chr7:50117395
|
G | A | 4 | a0001c0001t0001g0034a0004c0004t0001g0031a0004c0004t0001g0032others(1): Show | 4 | HG02055.hp2 HG02145.hp1 HG02257.hp1 others(1): Show |
intron_variant | MODIFIER | c.652-12322G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50117395 | ||||||
| chr7:50117431
|
A | AT | 8 | a0002c0002t0001g0118a0002c0005t0001g0306a0002c0005t0001g0310others(5): Show | 8 | HG02080.hp1 HG02135.hp1 HG02165.hp2 others(5): Show |
intron_variant | MODIFIER | c.652-12286_652-1228 others(5): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50117431 | ||||||
| chr7:50117431
|
A | T | 1 | a0001c0001t0001g0124 | 1 | NA18944.hp2 | intron_variant | MODIFIER | c.652-12286A>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50117431 | ||||||
| chr7:50117810
|
T | A | 255 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(252): Show | 265 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(262): Show |
intron_variant | MODIFIER | c.652-11907T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50117810 | ||||||
| chr7:50117868
|
G | A | 1 | a0002c0002t0003g0244 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.652-11849G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50117868 | ||||||
| chr7:50118002
|
G | A | 3 | a0003c0006t0001g0131a0003c0006t0001g0211a0010c0014t0004g0210 | 3 | HG01993.hp2 HG03041.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.652-11715G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50118002 | ||||||
| chr7:50118003
|
T | C | 163 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(160): Show | 170 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(167): Show |
intron_variant | MODIFIER | c.652-11714T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50118003 | ||||||
| chr7:50118008
|
A | G | 1 | a0004c0004t0001g0084 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.652-11709A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50118008 | ||||||
| chr7:50118173
|
G | A | 92 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(89): Show | 95 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(92): Show |
intron_variant | MODIFIER | c.652-11544G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50118173 | ||||||
| chr7:50118223
|
G | A | 8 | a0002c0002t0001g0118a0002c0005t0001g0306a0002c0005t0001g0310others(5): Show | 8 | HG02080.hp1 HG02135.hp1 HG02165.hp2 others(5): Show |
intron_variant | MODIFIER | c.652-11494G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50118223 | ||||||
| chr7:50118280
|
G | C | 1 | a0002c0002t0001g0100 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.652-11437G>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50118280 | ||||||
| chr7:50118362
|
G | A | 8 | a0002c0002t0001g0118a0002c0005t0001g0306a0002c0005t0001g0310others(5): Show | 8 | HG02080.hp1 HG02135.hp1 HG02165.hp2 others(5): Show |
intron_variant | MODIFIER | c.652-11355G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50118362 | ||||||
| chr7:50118547
|
C | T | 6 | a0001c0001t0001g0034a0001c0001t0001g0105a0001c0001t0004g0106others(3): Show | 6 | HG02055.hp2 HG02145.hp1 HG02257.hp1 others(3): Show |
intron_variant | MODIFIER | c.652-11170C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50118547 | ||||||
| chr7:50118796
|
C | T | 163 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(160): Show | 170 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(167): Show |
intron_variant | MODIFIER | c.652-10921C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50118796 | ||||||
| chr7:50118890
|
T | C | 92 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(89): Show | 95 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(92): Show |
intron_variant | MODIFIER | c.652-10827T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50118890 | ||||||
| chr7:50118915
|
T | C | 3 | a0001c0001t0001g0172a0001c0001t0001g0240a0004c0004t0001g0239 | 3 | HG02559.hp1 HG02922.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.652-10802T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50118915 | ||||||
| chr7:50119016
|
A | C | 1 | a0001c0001t0001g0114 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.652-10701A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50119016 | ||||||
| chr7:50119027
|
A | T | 8 | a0002c0002t0001g0118a0002c0005t0001g0306a0002c0005t0001g0310others(5): Show | 8 | HG02080.hp1 HG02135.hp1 HG02165.hp2 others(5): Show |
intron_variant | MODIFIER | c.652-10690A>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50119027 | ||||||
| chr7:50119062
|
C | T | 1 | a0004c0004t0001g0068 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.652-10655C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50119062 | ||||||
| chr7:50119293
|
A | G | 164 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(161): Show | 171 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(168): Show |
intron_variant | MODIFIER | c.652-10424A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50119293 | ||||||
| chr7:50119590
|
C | A | 1 | a0002c0005t0001g0257 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.652-10127C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50119590 | ||||||
| chr7:50119592
|
A | C | 1 | a0002c0005t0001g0257 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.652-10125A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50119592 | ||||||
| chr7:50119739
|
A | G | 1 | a0001c0001t0001g0172 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.652-9978A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50119739 | ||||||
| chr7:50119761
|
G | A | 256 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(253): Show | 266 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(263): Show |
intron_variant | MODIFIER | c.652-9956G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50119761 | ||||||
| chr7:50119771
|
C | T | 3 | a0003c0006t0001g0131a0003c0006t0001g0211a0010c0014t0004g0210 | 3 | HG01993.hp2 HG03041.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.652-9946C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50119771 | ||||||
| chr7:50119931
|
T | G | 1 | a0001c0001t0001g0172 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.652-9786T>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50119931 | ||||||
| chr7:50119950
|
C | T | 1 | a0001c0001t0001g0197 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.652-9767C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50119950 | ||||||
| chr7:50120157
|
A | G | 1 | a0002c0005t0001g0255 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.652-9560A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50120157 | ||||||
| chr7:50120257
|
C | T | 1 | a0001c0001t0001g0161 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.652-9460C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50120257 | ||||||
| chr7:50120265
|
C | T | 1 | a0001c0001t0001g0117 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.652-9452C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50120265 | ||||||
| chr7:50120337
|
A | C | 1 | a0001c0001t0001g0232 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.652-9380A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50120337 | ||||||
| chr7:50120344
|
A | G | 1 | a0001c0001t0001g0192 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.652-9373A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50120344 | ||||||
| chr7:50120404
|
G | A | 7 | a0001c0001t0001g0008a0001c0001t0001g0128a0001c0001t0001g0137others(4): Show | 8 | HG00741.hp1 HG01070.hp1 HG01074.hp2 others(5): Show |
intron_variant | MODIFIER | c.652-9313G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50120404 | ||||||
| chr7:50120433
|
A | G | 7 | a0001c0001t0001g0026a0001c0001t0001g0133a0001c0001t0001g0134others(4): Show | 7 | HG00639.hp2 HG01081.hp1 HG01099.hp2 others(4): Show |
intron_variant | MODIFIER | c.652-9284A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50120433 | ||||||
| chr7:50120491
|
C | T | 4 | a0001c0001t0001g0026a0001c0001t0001g0133a0001c0001t0001g0134others(1): Show | 4 | HG00639.hp2 HG01081.hp1 HG01099.hp2 others(1): Show |
intron_variant | MODIFIER | c.652-9226C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50120491 | ||||||
| chr7:50120527
|
C | A | 92 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(89): Show | 95 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(92): Show |
intron_variant | MODIFIER | c.652-9190C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50120527 | ||||||
| chr7:50120531
|
A | C | 256 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(253): Show | 266 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(263): Show |
intron_variant | MODIFIER | c.652-9186A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50120531 | ||||||
| chr7:50120593
|
A | G | 256 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(253): Show | 266 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(263): Show |
intron_variant | MODIFIER | c.652-9124A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50120593 | ||||||
| chr7:50121001
|
A | T | 1 | a0001c0001t0001g0108 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.652-8716A>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50121001 | ||||||
| chr7:50121037
|
C | T | 1 | a0002c0002t0001g0081 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.652-8680C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50121037 | ||||||
| chr7:50121626
|
C | T | 1 | a0001c0001t0001g0107 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.652-8091C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50121626 | ||||||
| chr7:50121657
|
T | C | 87 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(84): Show | 90 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(87): Show |
intron_variant | MODIFIER | c.652-8060T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50121657 | ||||||
| chr7:50121806
|
A | G | 1 | a0001c0001t0001g0209 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.652-7911A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50121806 | ||||||
| chr7:50121813
|
C | T | 164 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(161): Show | 171 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(168): Show |
intron_variant | MODIFIER | c.652-7904C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50121813 | ||||||
| chr7:50121834
|
TC | T | 150 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(147): Show | 157 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(154): Show |
intron_variant | MODIFIER | c.652-7882delC | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50121834 | ||||||
| chr7:50121835
|
C | T | 14 | a0001c0001t0001g0108a0001c0001t0001g0110a0001c0001t0001g0111others(11): Show | 14 | HG01884.hp1 HG01884.hp2 HG02258.hp2 others(11): Show |
intron_variant | MODIFIER | c.652-7882C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50121835 | ||||||
| chr7:50121839
|
T | C | 87 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(84): Show | 90 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(87): Show |
intron_variant | MODIFIER | c.652-7878T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50121839 | ||||||
| chr7:50121908
|
C | T | 1 | a0001c0001t0001g0114 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.652-7809C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50121908 | ||||||
| chr7:50121909
|
G | A | 5 | a0002c0005t0001g0251a0002c0005t0001g0252a0002c0005t0001g0253others(2): Show | 5 | HG02622.hp2 HG02922.hp1 HG03486.hp1 others(2): Show |
intron_variant | MODIFIER | c.652-7808G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50121909 | ||||||
| chr7:50121920
|
G | A | 1 | a0001c0001t0001g0227 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.652-7797G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50121920 | ||||||
| chr7:50121974
|
C | CAT | 256 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(253): Show | 266 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(263): Show |
intron_variant | MODIFIER | c.652-7742_652-7741d others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50121974 | |||||
| chr7:50122085
|
CA | C | 9 | a0002c0005t0001g0251a0002c0005t0001g0252a0002c0005t0001g0253others(6): Show | 9 | HG01891.hp2 HG02622.hp2 HG02922.hp1 others(6): Show |
intron_variant | MODIFIER | c.652-7630delA | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50122085 | |||||
| chr7:50122095
|
T | C | 164 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(161): Show | 171 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(168): Show |
intron_variant | MODIFIER | c.652-7622T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50122095 | ||||||
| chr7:50122141
|
G | T | 3 | a0003c0006t0001g0131a0003c0006t0001g0211a0010c0014t0004g0210 | 3 | HG01993.hp2 HG03041.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.652-7576G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50122141 | ||||||
| chr7:50122238
|
T | C | 3 | a0001c0001t0001g0212a0001c0001t0001g0213a0001c0001t0001g0214 | 3 | HG01433.hp1 HG02809.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.652-7479T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50122238 | ||||||
| chr7:50122440
|
T | C | 164 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(161): Show | 171 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(168): Show |
intron_variant | MODIFIER | c.652-7277T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50122440 | ||||||
| chr7:50122655
|
G | T | 163 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(160): Show | 170 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(167): Show |
intron_variant | MODIFIER | c.652-7062G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50122655 | ||||||
| chr7:50122704
|
T | C | 2 | a0001c0001t0001g0139a0001c0001t0001g0177 | 2 | NA18974.hp2 NA19007.hp1 |
intron_variant | MODIFIER | c.652-7013T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50122704 | ||||||
| chr7:50122720
|
G | C | 4 | a0002c0002t0003g0242a0002c0002t0003g0243a0002c0002t0003g0244others(1): Show | 4 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.652-6997G>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50122720 | ||||||
| chr7:50122731
|
A | G | 1 | a0002c0005t0001g0254 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.652-6986A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50122731 | ||||||
| chr7:50122757
|
G | A | 2 | a0001c0001t0001g0122a0001c0001t0001g0193 | 2 | NA18747.hp1 NA18944.hp1 |
intron_variant | MODIFIER | c.652-6960G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50122757 | ||||||
| chr7:50122804
|
A | G | 1 | a0002c0002t0003g0242 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.652-6913A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50122804 | ||||||
| chr7:50122804
|
A | T | 2 | a0001c0001t0001g0105a0001c0001t0004g0106 | 2 | HG03486.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.652-6913A>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50122804 | ||||||
| chr7:50122978
|
A | T | 1 | a0001c0001t0001g0029 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.652-6739A>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50122978 | ||||||
| chr7:50123002
|
A | T | 66 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(63): Show | 69 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(66): Show |
intron_variant | MODIFIER | c.652-6715A>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50123002 | ||||||
| chr7:50123010
|
C | G | 164 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(161): Show | 171 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(168): Show |
intron_variant | MODIFIER | c.652-6707C>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50123010 | ||||||
| chr7:50123015
|
C | T | 3 | a0003c0006t0001g0131a0003c0006t0001g0211a0010c0014t0004g0210 | 3 | HG01993.hp2 HG03041.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.652-6702C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50123015 | ||||||
| chr7:50123082
|
G | A | 164 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(161): Show | 171 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(168): Show |
intron_variant | MODIFIER | c.652-6635G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50123082 | ||||||
| chr7:50123118
|
G | A | 167 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(164): Show | 174 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(171): Show |
intron_variant | MODIFIER | c.652-6599G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50123118 | ||||||
| chr7:50123177
|
A | T | 12 | a0002c0005t0001g0251a0002c0005t0001g0252a0002c0005t0001g0253others(9): Show | 12 | HG01891.hp2 HG02622.hp2 HG02717.hp2 others(9): Show |
intron_variant | MODIFIER | c.652-6540A>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50123177 | ||||||
| chr7:50123269
|
G | C | 1 | a0001c0001t0001g0117 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.652-6448G>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50123269 | ||||||
| chr7:50123334
|
G | A | 2 | a0002c0005t0001g0260a0002c0005t0001g0261 | 2 | HG02717.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.652-6383G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50123334 | ||||||
| chr7:50123422
|
T | TG | 6 | a0001c0001t0001g0191a0001c0001t0001g0219a0001c0001t0002g0155others(3): Show | 6 | HG01192.hp2 HG02572.hp2 HG02738.hp1 others(3): Show |
intron_variant | MODIFIER | c.652-6290dupG | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50123422 | |||||
| chr7:50123428
|
A | G | 251 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(248): Show | 261 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(258): Show |
intron_variant | MODIFIER | c.652-6289A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50123428 | ||||||
| chr7:50123429
|
A | G | 5 | a0001c0001t0001g0191a0001c0001t0001g0219a0001c0001t0002g0155others(2): Show | 5 | HG01192.hp2 HG02572.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.652-6288A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50123429 | ||||||
| chr7:50123457
|
A | G | 92 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(89): Show | 95 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(92): Show |
intron_variant | MODIFIER | c.652-6260A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50123457 | ||||||
| chr7:50123527
|
A | C | 116 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(113): Show | 122 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(119): Show |
intron_variant | MODIFIER | c.652-6190A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50123527 | ||||||
| chr7:50123567
|
T | TAATA | 79 | a0001c0001t0001g0168a0002c0002t0001g0003a0002c0002t0001g0004others(76): Show | 82 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(79): Show |
intron_variant | MODIFIER | c.652-6119_652-6116d others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50123567 | |||||
| chr7:50123567
|
T | TAATAAAT others(1): Show |
14 | a0002c0002t0001g0097a0002c0002t0001g0098a0002c0005t0001g0251others(11): Show | 14 | HG01891.hp2 HG02622.hp2 HG02717.hp2 others(11): Show |
intron_variant | MODIFIER | c.652-6123_652-6116d others(10): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50123567 | |||||
| chr7:50123567
|
TAATA | T | 99 | a0001c0001t0001g0009a0001c0001t0001g0027a0001c0001t0001g0028others(96): Show | 104 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(101): Show |
intron_variant | MODIFIER | c.652-6119_652-6116d others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50123567 | |||||
| chr7:50123711
|
T | C | 1 | a0008c0013t0001g0109 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.652-6006T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50123711 | ||||||
| chr7:50123793
|
C | A | 1 | a0008c0013t0001g0109 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.652-5924C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50123793 | ||||||
| chr7:50123813
|
GA | G | 67 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(64): Show | 70 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(67): Show |
intron_variant | MODIFIER | c.652-5902delA | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50123813 | |||||
| chr7:50123830
|
C | T | 8 | a0001c0001t0002g0001a0001c0001t0002g0127a0001c0001t0002g0151others(5): Show | 11 | HG00099.hp2 HG00323.hp2 HG00733.hp1 others(8): Show |
intron_variant | MODIFIER | c.652-5887C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50123830 | ||||||
| chr7:50123849
|
C | T | 1 | a0003c0003t0001g0266 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.652-5868C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50123849 | ||||||
| chr7:50124373
|
T | C | 1 | a0004c0004t0001g0225 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.652-5344T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50124373 | ||||||
| chr7:50124381
|
C | T | 3 | a0003c0006t0001g0131a0003c0006t0001g0211a0010c0014t0004g0210 | 3 | HG01993.hp2 HG03041.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.652-5336C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50124381 | ||||||
| chr7:50124433
|
C | A | 164 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(161): Show | 171 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(168): Show |
intron_variant | MODIFIER | c.652-5284C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50124433 | ||||||
| chr7:50124613
|
C | T | 1 | a0004c0004t0001g0084 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.652-5104C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50124613 | ||||||
| chr7:50124836
|
C | T | 1 | a0002c0002t0001g0093 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.652-4881C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50124836 | ||||||
| chr7:50124894
|
C | T | 309 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(306): Show | 327 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(324): Show |
intron_variant | MODIFIER | c.652-4823C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50124894 | ||||||
| chr7:50124896
|
C | A | 66 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(63): Show | 69 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(66): Show |
intron_variant | MODIFIER | c.652-4821C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50124896 | ||||||
| chr7:50124942
|
C | T | 256 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(253): Show | 266 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(263): Show |
intron_variant | MODIFIER | c.652-4775C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50124942 | ||||||
| chr7:50125094
|
G | GTA | 12 | a0002c0002t0001g0003a0002c0002t0001g0279a0002c0005t0001g0260others(9): Show | 15 | HG00642.hp1 HG01074.hp1 HG01167.hp2 others(12): Show |
intron_variant | MODIFIER | c.652-4602_652-4601d others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125094 | |||||
| chr7:50125094
|
G | GTATATAT others(5): Show |
1 | a0003c0006t0001g0250 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.652-4612_652-4601d others(14): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125094 | |||||
| chr7:50125096
|
A | G | 1 | a0002c0005t0001g0251 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.652-4621A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125096 | ||||||
| chr7:50125109
|
T | C | 26 | a0001c0001t0001g0029a0001c0001t0001g0034a0001c0001t0001g0164others(23): Show | 27 | HG01099.hp1 HG01243.hp1 HG01891.hp1 others(24): Show |
intron_variant | MODIFIER | c.652-4608T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125109 | ||||||
| chr7:50125111
|
T | C | 161 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(158): Show | 168 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(165): Show |
intron_variant | MODIFIER | c.652-4606T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125111 | ||||||
| chr7:50125113
|
T | C | 163 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(160): Show | 170 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(167): Show |
intron_variant | MODIFIER | c.652-4604T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125113 | ||||||
| chr7:50125115
|
T | C | 163 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(160): Show | 170 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(167): Show |
intron_variant | MODIFIER | c.652-4602T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125115 | ||||||
| chr7:50125115
|
T | TATATATA others(15): Show |
2 | a0002c0005t0001g0306a0004c0007t0001g0304 | 2 | HG02135.hp1 HG03704.hp2 |
intron_variant | MODIFIER | c.652-4601_652-4600i others(24): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125115 | |||||
| chr7:50125115
|
T | TATATATA others(11): Show |
2 | a0002c0002t0001g0118a0002c0010t0001g0308 | 2 | HG02165.hp2 HG03834.hp1 |
intron_variant | MODIFIER | c.652-4601_652-4600i others(20): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125115 | |||||
| chr7:50125115
|
T | TATATATA others(15): Show |
1 | a0004c0007t0001g0307 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.652-4601_652-4600i others(24): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125115 | |||||
| chr7:50125115
|
T | TATATATA others(19): Show |
1 | a0004c0007t0001g0305 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.652-4601_652-4600i others(28): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125115 | |||||
| chr7:50125115
|
T | TATATATA others(15): Show |
1 | a0002c0005t0001g0310 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.652-4601_652-4600i others(24): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125115 | |||||
| chr7:50125115
|
T | TATATATA others(17): Show |
1 | a0002c0010t0001g0309 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.652-4601_652-4600i others(26): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125115 | |||||
| chr7:50125115
|
TACACAC | T | 5 | a0002c0005t0001g0251a0002c0005t0001g0253a0002c0005t0001g0254others(2): Show | 5 | HG02622.hp2 HG02922.hp1 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.652-4580_652-4575d others(8): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125115 | |||||
| chr7:50125117
|
C | T | 80 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(77): Show | 83 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(80): Show |
intron_variant | MODIFIER | c.652-4600C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125117 | ||||||
| chr7:50125119
|
C | T | 72 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(69): Show | 75 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(72): Show |
intron_variant | MODIFIER | c.652-4598C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125119 | ||||||
| chr7:50125121
|
C | T | 71 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(68): Show | 74 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(71): Show |
intron_variant | MODIFIER | c.652-4596C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125121 | ||||||
| chr7:50125123
|
C | T | 75 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(72): Show | 78 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(75): Show |
intron_variant | MODIFIER | c.652-4594C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125123 | ||||||
| chr7:50125125
|
C | T | 76 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(73): Show | 79 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(76): Show |
intron_variant | MODIFIER | c.652-4592C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125125 | ||||||
| chr7:50125127
|
C | CAT | 160 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(157): Show | 167 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(164): Show |
intron_variant | MODIFIER | c.652-4589_652-4588i others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125127 | |||||
| chr7:50125127
|
C | T | 76 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(73): Show | 79 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(76): Show |
intron_variant | MODIFIER | c.652-4590C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125127 | ||||||
| chr7:50125129
|
C | T | 77 | a0001c0001t0001g0175a0002c0002t0001g0003a0002c0002t0001g0004others(74): Show | 80 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(77): Show |
intron_variant | MODIFIER | c.652-4588C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125129 | ||||||
| chr7:50125131
|
C | T | 77 | a0001c0001t0001g0207a0002c0002t0001g0003a0002c0002t0001g0004others(74): Show | 80 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(77): Show |
intron_variant | MODIFIER | c.652-4586C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125131 | ||||||
| chr7:50125133
|
C | T | 76 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(73): Show | 79 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(76): Show |
intron_variant | MODIFIER | c.652-4584C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125133 | ||||||
| chr7:50125135
|
C | T | 69 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(66): Show | 72 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(69): Show |
intron_variant | MODIFIER | c.652-4582C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125135 | ||||||
| chr7:50125137
|
C | T | 62 | a0001c0001t0001g0129a0001c0001t0001g0150a0002c0002t0001g0003others(59): Show | 65 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(62): Show |
intron_variant | MODIFIER | c.652-4580C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125137 | ||||||
| chr7:50125139
|
C | T | 193 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(190): Show | 202 | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(199): Show |
intron_variant | MODIFIER | c.652-4578C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125139 | ||||||
| chr7:50125141
|
C | T | 171 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(168): Show | 178 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(175): Show |
intron_variant | MODIFIER | c.652-4576C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125141 | ||||||
| chr7:50125141
|
CAT | C | 22 | a0002c0002t0001g0005a0002c0002t0001g0036a0002c0002t0001g0037others(19): Show | 23 | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(20): Show |
intron_variant | MODIFIER | c.652-4572_652-4571d others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125141 | |||||
| chr7:50125141
|
CATAT | C | 29 | a0001c0001t0001g0129a0001c0001t0001g0150a0002c0002t0001g0004others(26): Show | 30 | HG00099.hp1 HG00597.hp1 HG00609.hp2 others(27): Show |
intron_variant | MODIFIER | c.652-4574_652-4571d others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125141 | |||||
| chr7:50125143
|
T | C | 19 | a0002c0002t0001g0003a0002c0002t0001g0024a0002c0002t0001g0035others(16): Show | 20 | HG00741.hp2 HG01069.hp2 HG01081.hp2 others(17): Show |
intron_variant | MODIFIER | c.652-4574T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125143 | ||||||
| chr7:50125145
|
T | C | 41 | a0002c0002t0001g0003a0002c0002t0001g0005a0002c0002t0001g0024others(38): Show | 43 | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(40): Show |
intron_variant | MODIFIER | c.652-4572T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125145 | ||||||
| chr7:50125149
|
C | T | 1 | a0002c0005t0001g0261 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.652-4568C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125149 | ||||||
| chr7:50125151
|
CATAT | C | 5 | a0002c0005t0001g0251a0002c0005t0001g0253a0002c0005t0001g0254others(2): Show | 5 | HG02622.hp2 HG02922.hp1 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.652-4560_652-4557d others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125151 | |||||
| chr7:50125151
|
CATATAT | C | 7 | a0002c0002t0001g0035a0002c0002t0001g0039a0002c0002t0001g0053others(4): Show | 7 | HG01433.hp2 HG02056.hp2 HG02683.hp1 others(4): Show |
intron_variant | MODIFIER | c.652-4562_652-4557d others(8): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125151 | |||||
| chr7:50125151
|
CATATATA others(1): Show |
C | 6 | a0002c0002t0001g0048a0002c0002t0001g0049a0002c0002t0001g0050others(3): Show | 6 | HG01069.hp2 HG01081.hp2 HG01496.hp2 others(3): Show |
intron_variant | MODIFIER | c.652-4564_652-4557d others(10): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125151 | |||||
| chr7:50125153
|
T | C | 58 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(55): Show | 61 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(58): Show |
intron_variant | MODIFIER | c.652-4564T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125153 | ||||||
| chr7:50125155
|
T | C | 58 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(55): Show | 61 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(58): Show |
intron_variant | MODIFIER | c.652-4562T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125155 | ||||||
| chr7:50125157
|
T | C | 63 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(60): Show | 66 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(63): Show |
intron_variant | MODIFIER | c.652-4560T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125157 | ||||||
| chr7:50125159
|
T | C | 70 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(67): Show | 73 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(70): Show |
intron_variant | MODIFIER | c.652-4558T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125159 | ||||||
| chr7:50125165
|
T | C | 7 | a0002c0002t0001g0094a0002c0005t0001g0251a0002c0005t0001g0253others(4): Show | 7 | HG02622.hp2 HG02922.hp1 HG03516.hp1 others(4): Show |
intron_variant | MODIFIER | c.652-4552T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125165 | ||||||
| chr7:50125167
|
T | C | 7 | a0002c0002t0001g0094a0002c0005t0001g0251a0002c0005t0001g0253others(4): Show | 7 | HG02622.hp2 HG02922.hp1 HG03516.hp1 others(4): Show |
intron_variant | MODIFIER | c.652-4550T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125167 | ||||||
| chr7:50125169
|
T | C | 76 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(73): Show | 79 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(76): Show |
intron_variant | MODIFIER | c.652-4548T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125169 | ||||||
| chr7:50125171
|
C | T | 1 | a0002c0005t0001g0260 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.652-4546C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125171 | ||||||
| chr7:50125173
|
CAT | C | 158 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(155): Show | 165 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(162): Show |
intron_variant | MODIFIER | c.652-4536_652-4535d others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125173 | |||||
| chr7:50125175
|
T | C | 7 | a0002c0002t0001g0094a0002c0005t0001g0251a0002c0005t0001g0253others(4): Show | 7 | HG02622.hp2 HG02922.hp1 HG03516.hp1 others(4): Show |
intron_variant | MODIFIER | c.652-4542T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125175 | ||||||
| chr7:50125181
|
T | C | 10 | a0002c0002t0001g0094a0002c0005t0001g0251a0002c0005t0001g0253others(7): Show | 10 | HG01993.hp2 HG02622.hp2 HG02922.hp1 others(7): Show |
intron_variant | MODIFIER | c.652-4536T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125181 | ||||||
| chr7:50125185
|
C | CATATATA others(5): Show |
1 | a0003c0003t0001g0302 | 1 | NA19072.hp2 | intron_variant | MODIFIER | c.652-4502_652-4491d others(14): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125185 | |||||
| chr7:50125185
|
C | T | 4 | a0003c0006t0001g0131a0003c0006t0001g0211a0004c0004t0001g0221others(1): Show | 4 | HG01993.hp2 HG03041.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.652-4532C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125185 | ||||||
| chr7:50125185
|
CATATATA others(5): Show |
C | 3 | a0002c0005t0001g0252a0002c0005t0001g0262a0002c0005t0001g0264 | 3 | HG01891.hp2 HG02965.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.652-4502_652-4491d others(14): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125185 | |||||
| chr7:50125193
|
C | T | 166 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(163): Show | 173 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(170): Show |
intron_variant | MODIFIER | c.652-4524C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125193 | ||||||
| chr7:50125195
|
C | T | 3 | a0003c0006t0001g0131a0003c0006t0001g0211a0010c0014t0004g0210 | 3 | HG01993.hp2 HG03041.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.652-4522C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125195 | ||||||
| chr7:50125195
|
CAT | C | 4 | a0001c0001t0001g0150a0002c0002t0003g0018a0002c0005t0001g0261others(1): Show | 4 | HG03139.hp2 HG03516.hp2 NA19079.hp1 others(1): Show |
intron_variant | MODIFIER | c.652-4514_652-4513d others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125195 | |||||
| chr7:50125197
|
T | C | 7 | a0002c0002t0001g0094a0002c0005t0001g0251a0002c0005t0001g0253others(4): Show | 7 | HG02622.hp2 HG02922.hp1 HG03516.hp1 others(4): Show |
intron_variant | MODIFIER | c.652-4520T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125197 | ||||||
| chr7:50125197
|
T | TATATACA others(1): Show |
5 | a0002c0002t0003g0242a0002c0002t0003g0243a0002c0002t0003g0244others(2): Show | 5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.652-4515_652-4514i others(10): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125197 | |||||
| chr7:50125197
|
TATATATA others(15): Show |
T | 1 | a0003c0003t0001g0288 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.652-4474_652-4453d others(24): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125197 | |||||
| chr7:50125199
|
T | C | 1 | a0002c0002t0001g0118 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.652-4518T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125199 | ||||||
| chr7:50125203
|
T | C | 3 | a0003c0006t0001g0131a0003c0006t0001g0211a0010c0014t0004g0210 | 3 | HG01993.hp2 HG03041.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.652-4514T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125203 | ||||||
| chr7:50125205
|
C | T | 5 | a0002c0002t0003g0242a0002c0002t0003g0243a0002c0002t0003g0244others(2): Show | 5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.652-4512C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125205 | ||||||
| chr7:50125207
|
CAT | C | 74 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(71): Show | 77 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(74): Show |
intron_variant | MODIFIER | c.652-4502_652-4501d others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125207 | |||||
| chr7:50125209
|
T | C | 5 | a0002c0002t0003g0242a0002c0002t0003g0243a0002c0002t0003g0244others(2): Show | 5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.652-4508T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125209 | ||||||
| chr7:50125227
|
C | T | 34 | a0001c0001t0001g0034a0001c0001t0001g0105a0001c0001t0001g0172others(31): Show | 35 | HG01433.hp1 HG01891.hp1 HG01993.hp2 others(32): Show |
intron_variant | MODIFIER | c.652-4490C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125227 | ||||||
| chr7:50125231
|
T | C | 34 | a0001c0001t0001g0034a0001c0001t0001g0105a0001c0001t0001g0172others(31): Show | 35 | HG01433.hp1 HG01891.hp1 HG01993.hp2 others(32): Show |
intron_variant | MODIFIER | c.652-4486T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125231 | ||||||
| chr7:50125249
|
C | T | 165 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(162): Show | 172 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(169): Show |
intron_variant | MODIFIER | c.652-4468C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125249 | ||||||
| chr7:50125252
|
A | C | 128 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(125): Show | 134 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(131): Show |
intron_variant | MODIFIER | c.652-4465A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125252 | ||||||
| chr7:50125253
|
T | C | 165 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(162): Show | 172 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(169): Show |
intron_variant | MODIFIER | c.652-4464T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125253 | ||||||
| chr7:50125253
|
TATATATA others(17): Show |
T | 1 | a0003c0003t0001g0287 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.652-4452_652-4429d others(26): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125253 | |||||
| chr7:50125261
|
C | CACATATA others(1): Show |
4 | a0002c0002t0003g0242a0002c0002t0003g0243a0002c0002t0003g0244others(1): Show | 4 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.652-4453_652-4452i others(10): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125261 | |||||
| chr7:50125261
|
C | T | 119 | a0001c0001t0001g0034a0001c0001t0001g0105a0001c0001t0001g0172others(116): Show | 123 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(120): Show |
intron_variant | MODIFIER | c.652-4456C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125261 | ||||||
| chr7:50125261
|
CACACAT | C | 128 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(125): Show | 134 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(131): Show |
intron_variant | MODIFIER | c.652-4454_652-4449d others(8): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125261 | |||||
| chr7:50125264
|
A | C | 34 | a0001c0001t0001g0034a0001c0001t0001g0105a0001c0001t0001g0172others(31): Show | 35 | HG01433.hp1 HG01891.hp1 HG01993.hp2 others(32): Show |
intron_variant | MODIFIER | c.652-4453A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125264 | ||||||
| chr7:50125265
|
C | T | 3 | a0002c0002t0003g0018a0002c0005t0001g0261a0003c0006t0001g0303 | 3 | HG03139.hp2 HG03516.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.652-4452C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125265 | ||||||
| chr7:50125271
|
TATAC | T | 34 | a0001c0001t0001g0034a0001c0001t0001g0105a0001c0001t0001g0172others(31): Show | 35 | HG01433.hp1 HG01891.hp1 HG01993.hp2 others(32): Show |
intron_variant | MODIFIER | c.652-4444_652-4441d others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125271 | |||||
| chr7:50125273
|
T | C | 2 | a0002c0005t0001g0261a0003c0006t0001g0303 | 2 | HG03139.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.652-4444T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125273 | ||||||
| chr7:50125276
|
A | C | 2 | a0001c0001t0001g0129a0001c0001t0001g0150 | 2 | HG03209.hp1 NA19079.hp1 |
intron_variant | MODIFIER | c.652-4441A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125276 | ||||||
| chr7:50125277
|
C | T | 2 | a0002c0005t0001g0261a0003c0006t0001g0303 | 2 | HG03139.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.652-4440C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125277 | ||||||
| chr7:50125285
|
C | T | 133 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(130): Show | 139 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(136): Show |
intron_variant | MODIFIER | c.652-4432C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125285 | ||||||
| chr7:50125286
|
A | C | 2 | a0002c0005t0001g0261a0003c0006t0001g0303 | 2 | HG03139.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.652-4431A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125286 | ||||||
| chr7:50125289
|
T | C | 5 | a0002c0002t0003g0018a0002c0002t0003g0242a0002c0002t0003g0243others(2): Show | 5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.652-4428T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125289 | ||||||
| chr7:50125299
|
C | T | 34 | a0001c0001t0001g0034a0001c0001t0001g0105a0001c0001t0001g0172others(31): Show | 35 | HG01433.hp1 HG01891.hp1 HG01993.hp2 others(32): Show |
intron_variant | MODIFIER | c.652-4418C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125299 | ||||||
| chr7:50125301
|
T | C | 128 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(125): Show | 134 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(131): Show |
intron_variant | MODIFIER | c.652-4416T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125301 | ||||||
| chr7:50125303
|
TATATACC others(9): Show |
T | 128 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(125): Show | 134 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(131): Show |
intron_variant | MODIFIER | c.652-4408_652-4393d others(18): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125303 | |||||
| chr7:50125307
|
T | C | 34 | a0001c0001t0001g0034a0001c0001t0001g0105a0001c0001t0001g0172others(31): Show | 35 | HG01433.hp1 HG01891.hp1 HG01993.hp2 others(32): Show |
intron_variant | MODIFIER | c.652-4410T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125307 | ||||||
| chr7:50125310
|
C | A | 38 | a0001c0001t0001g0034a0001c0001t0001g0105a0001c0001t0001g0129others(35): Show | 39 | HG01433.hp1 HG01891.hp1 HG01993.hp2 others(36): Show |
intron_variant | MODIFIER | c.652-4407C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125310 | ||||||
| chr7:50125311
|
C | T | 4 | a0001c0001t0001g0129a0001c0001t0001g0150a0002c0005t0001g0261others(1): Show | 4 | HG03139.hp2 HG03209.hp1 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.652-4406C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125311 | ||||||
| chr7:50125313
|
TATATAC | T | 34 | a0001c0001t0001g0034a0001c0001t0001g0105a0001c0001t0001g0172others(31): Show | 35 | HG01433.hp1 HG01891.hp1 HG01993.hp2 others(32): Show |
intron_variant | MODIFIER | c.652-4398_652-4393d others(8): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125313 | |||||
| chr7:50125319
|
C | CACACAT | 4 | a0001c0001t0001g0129a0001c0001t0001g0150a0002c0005t0001g0261others(1): Show | 4 | HG03139.hp2 HG03209.hp1 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.652-4397_652-4396i others(8): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125319 | |||||
| chr7:50125319
|
C | CATATATA others(29): Show |
1 | a0002c0002t0001g0097 | 1 | NA19064.hp1 | intron_variant | MODIFIER | c.652-4371_652-4370i others(38): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125319 | |||||
| chr7:50125319
|
C | CATATATA others(29): Show |
76 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(73): Show | 79 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(76): Show |
intron_variant | MODIFIER | c.652-4376_652-4341d others(38): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125319 | |||||
| chr7:50125319
|
C | CATATATA others(31): Show |
5 | a0002c0002t0003g0018a0002c0002t0003g0242a0002c0002t0003g0243others(2): Show | 5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.652-4369_652-4368i others(40): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125319 | |||||
| chr7:50125339
|
CAT | C | 164 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(161): Show | 171 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(168): Show |
intron_variant | MODIFIER | c.652-4370_652-4369d others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125339 | |||||
| chr7:50125366
|
A | ATATATAT others(29): Show |
8 | a0002c0002t0001g0118a0002c0005t0001g0306a0002c0005t0001g0310others(5): Show | 8 | HG02080.hp1 HG02135.hp1 HG02165.hp2 others(5): Show |
intron_variant | MODIFIER | c.652-4341_652-4340i others(38): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125366 | |||||
| chr7:50125373
|
TAC | T | 164 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(161): Show | 171 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(168): Show |
intron_variant | MODIFIER | c.652-4340_652-4339d others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125373 | |||||
| chr7:50125399
|
CAT | C | 3 | a0003c0006t0001g0131a0003c0006t0001g0211a0010c0014t0004g0210 | 3 | HG01993.hp2 HG03041.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.652-4308_652-4307d others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125399 | |||||
| chr7:50125506
|
A | G | 3 | a0003c0006t0001g0131a0003c0006t0001g0211a0010c0014t0004g0210 | 3 | HG01993.hp2 HG03041.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.652-4211A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125506 | ||||||
| chr7:50125585
|
G | GGT | 21 | a0001c0001t0001g0200a0001c0001t0001g0238a0002c0005t0001g0251others(18): Show | 22 | HG01074.hp1 HG01167.hp1 HG01257.hp1 others(19): Show |
intron_variant | MODIFIER | c.652-4099_652-4098d others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125585 | |||||
| chr7:50125585
|
GGT | G | 203 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0025others(200): Show | 212 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(209): Show |
intron_variant | MODIFIER | c.652-4099_652-4098d others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125585 | |||||
| chr7:50125585
|
GGTGT | G | 13 | a0001c0001t0001g0028a0001c0001t0001g0132a0001c0001t0001g0150others(10): Show | 13 | HG00597.hp1 HG00609.hp1 HG02080.hp1 others(10): Show |
intron_variant | MODIFIER | c.652-4101_652-4098d others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125585 | |||||
| chr7:50125585
|
GGTGTGTG others(7): Show |
G | 1 | a0003c0003t0001g0012 | 2 | HG03491.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.652-4111_652-4098d others(16): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50125585 | |||||
| chr7:50125670
|
A | G | 164 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(161): Show | 171 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(168): Show |
intron_variant | MODIFIER | c.652-4047A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125670 | ||||||
| chr7:50125683
|
T | C | 164 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(161): Show | 171 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(168): Show |
intron_variant | MODIFIER | c.652-4034T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125683 | ||||||
| chr7:50125685
|
G | A | 3 | a0003c0006t0001g0131a0003c0006t0001g0211a0010c0014t0004g0210 | 3 | HG01993.hp2 HG03041.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.652-4032G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125685 | ||||||
| chr7:50125692
|
C | T | 164 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(161): Show | 171 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(168): Show |
intron_variant | MODIFIER | c.652-4025C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125692 | ||||||
| chr7:50125756
|
T | C | 2 | a0002c0005t0001g0260a0002c0005t0001g0261 | 2 | HG02717.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.652-3961T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125756 | ||||||
| chr7:50125984
|
A | G | 164 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(161): Show | 171 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(168): Show |
intron_variant | MODIFIER | c.652-3733A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50125984 | ||||||
| chr7:50126072
|
C | T | 1 | a0001c0001t0001g0029 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.652-3645C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50126072 | ||||||
| chr7:50126124
|
G | A | 164 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(161): Show | 171 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(168): Show |
intron_variant | MODIFIER | c.652-3593G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50126124 | ||||||
| chr7:50126187
|
A | T | 256 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(253): Show | 266 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(263): Show |
intron_variant | MODIFIER | c.652-3530A>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50126187 | ||||||
| chr7:50126222
|
T | TA | 161 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(158): Show | 168 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(165): Show |
intron_variant | MODIFIER | c.652-3489dupA | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50126222 | |||||
| chr7:50126345
|
A | G | 256 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(253): Show | 266 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(263): Show |
intron_variant | MODIFIER | c.652-3372A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50126345 | ||||||
| chr7:50126362
|
T | C | 1 | a0001c0001t0001g0119 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.652-3355T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50126362 | ||||||
| chr7:50126379
|
GT | G | 49 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0025others(46): Show | 51 | HG00140.hp2 HG00639.hp1 HG00639.hp2 others(48): Show |
intron_variant | MODIFIER | c.652-3328delT | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50126379 | |||||
| chr7:50126476
|
A | G | 5 | a0001c0001t0001g0034a0001c0001t0001g0290a0004c0004t0001g0031others(2): Show | 5 | HG02055.hp2 HG02145.hp1 HG02257.hp1 others(2): Show |
intron_variant | MODIFIER | c.652-3241A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50126476 | ||||||
| chr7:50126519
|
C | T | 3 | a0003c0006t0001g0131a0003c0006t0001g0211a0010c0014t0004g0210 | 3 | HG01993.hp2 HG03041.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.652-3198C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50126519 | ||||||
| chr7:50126680
|
A | C | 9 | a0002c0005t0001g0251a0002c0005t0001g0252a0002c0005t0001g0253others(6): Show | 9 | HG01891.hp2 HG02622.hp2 HG02922.hp1 others(6): Show |
intron_variant | MODIFIER | c.652-3037A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50126680 | ||||||
| chr7:50126899
|
T | G | 1 | a0003c0003t0001g0272 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.652-2818T>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50126899 | ||||||
| chr7:50126936
|
C | T | 8 | a0002c0002t0001g0118a0002c0005t0001g0306a0002c0005t0001g0310others(5): Show | 8 | HG02080.hp1 HG02135.hp1 HG02165.hp2 others(5): Show |
intron_variant | MODIFIER | c.652-2781C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50126936 | ||||||
| chr7:50127105
|
C | A | 67 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(64): Show | 70 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(67): Show |
intron_variant | MODIFIER | c.652-2612C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50127105 | ||||||
| chr7:50127215
|
T | C | 2 | a0002c0005t0001g0260a0002c0005t0001g0261 | 2 | HG02717.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.652-2502T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50127215 | ||||||
| chr7:50127232
|
C | T | 1 | a0001c0001t0001g0130 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.652-2485C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50127232 | ||||||
| chr7:50127390
|
A | C | 164 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(161): Show | 171 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(168): Show |
intron_variant | MODIFIER | c.652-2327A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50127390 | ||||||
| chr7:50127514
|
AC | A | 3 | a0003c0006t0001g0131a0003c0006t0001g0211a0010c0014t0004g0210 | 3 | HG01993.hp2 HG03041.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.652-2201delC | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50127514 | |||||
| chr7:50127599
|
G | A | 1 | a0003c0006t0001g0303 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.652-2118G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50127599 | ||||||
| chr7:50127617
|
C | CTA | 20 | a0002c0002t0001g0279a0003c0003t0001g0011a0003c0003t0001g0013others(17): Show | 23 | HG00140.hp1 HG00738.hp1 HG01070.hp2 others(20): Show |
intron_variant | MODIFIER | c.652-2083_652-2082d others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50127617 | |||||
| chr7:50127617
|
C | CTATA | 28 | a0001c0001t0001g0007a0001c0001t0001g0165a0001c0001t0001g0166others(25): Show | 30 | HG01993.hp2 HG02257.hp2 HG02258.hp1 others(27): Show |
intron_variant | MODIFIER | c.652-2085_652-2082d others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50127617 | |||||
| chr7:50127617
|
C | CTATATA | 14 | a0001c0001t0001g0034a0001c0001t0001g0200a0001c0001t0001g0209others(11): Show | 15 | HG01433.hp1 HG01891.hp1 HG02055.hp2 others(12): Show |
intron_variant | MODIFIER | c.652-2087_652-2082d others(8): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50127617 | |||||
| chr7:50127617
|
C | CTATATAT others(1): Show |
9 | a0001c0001t0001g0009a0001c0001t0001g0029a0001c0001t0001g0105others(6): Show | 10 | HG01243.hp1 HG02145.hp2 HG02886.hp2 others(7): Show |
intron_variant | MODIFIER | c.652-2089_652-2082d others(10): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50127617 | |||||
| chr7:50127617
|
C | CTATATAT others(3): Show |
37 | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0027others(34): Show | 37 | HG00140.hp2 HG00639.hp2 HG01081.hp1 others(34): Show |
intron_variant | MODIFIER | c.652-2091_652-2082d others(12): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50127617 | |||||
| chr7:50127617
|
C | CTATATAT others(5): Show |
60 | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0107others(57): Show | 63 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(60): Show |
intron_variant | MODIFIER | c.652-2093_652-2082d others(14): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50127617 | |||||
| chr7:50127617
|
C | CTATATAT others(7): Show |
23 | a0001c0001t0001g0008a0001c0001t0001g0116a0001c0001t0001g0122others(20): Show | 24 | HG00423.hp2 HG00741.hp1 HG01070.hp1 others(21): Show |
intron_variant | MODIFIER | c.652-2095_652-2082d others(16): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50127617 | |||||
| chr7:50127617
|
C | CTATATAT others(9): Show |
1 | a0001c0001t0001g0149 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.652-2097_652-2082d others(18): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50127617 | |||||
| chr7:50127617
|
CTA | C | 9 | a0002c0002t0001g0118a0002c0005t0001g0306a0002c0005t0001g0310others(6): Show | 9 | HG02080.hp1 HG02135.hp1 HG02165.hp2 others(6): Show |
intron_variant | MODIFIER | c.652-2083_652-2082d others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50127617 | |||||
| chr7:50127634
|
T | TAC | 9 | a0002c0005t0001g0251a0002c0005t0001g0252a0002c0005t0001g0253others(6): Show | 9 | HG01891.hp2 HG02622.hp2 HG02922.hp1 others(6): Show |
intron_variant | MODIFIER | c.652-2082_652-2081d others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50127634 | |||||
| chr7:50127838
|
A | G | 1 | a0004c0004t0001g0096 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.652-1879A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50127838 | ||||||
| chr7:50127889
|
A | G | 2 | a0001c0001t0001g0108a0001c0001t0001g0110 | 2 | HG02451.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.652-1828A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50127889 | ||||||
| chr7:50127897
|
C | G | 1 | a0001c0001t0001g0171 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.652-1820C>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50127897 | ||||||
| chr7:50127991
|
A | G | 1 | a0003c0006t0001g0303 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.652-1726A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50127991 | ||||||
| chr7:50128105
|
TATATACA others(2): Show |
T | 20 | a0001c0001t0001g0132a0001c0001t0001g0140a0001c0001t0001g0147others(17): Show | 23 | HG00099.hp2 HG00323.hp2 HG00733.hp1 others(20): Show |
intron_variant | MODIFIER | c.652-1609_652-1601d others(11): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | 50128105 | |||||
| chr7:50128168
|
G | A | 256 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(253): Show | 266 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(263): Show |
intron_variant | MODIFIER | c.652-1549G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50128168 | ||||||
| chr7:50128192
|
G | C | 5 | a0002c0002t0003g0018a0002c0002t0003g0242a0002c0002t0003g0243others(2): Show | 5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.652-1525G>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50128192 | ||||||
| chr7:50128248
|
C | T | 164 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(161): Show | 171 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(168): Show |
intron_variant | MODIFIER | c.652-1469C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50128248 | ||||||
| chr7:50128386
|
C | A | 1 | a0003c0003t0001g0011 | 2 | HG03654.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.652-1331C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50128386 | ||||||
| chr7:50128417
|
G | C | 1 | a0003c0003t0001g0011 | 2 | HG03654.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.652-1300G>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50128417 | ||||||
| chr7:50128542
|
G | A | 1 | a0001c0001t0001g0115 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.652-1175G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50128542 | ||||||
| chr7:50128587
|
T | C | 66 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(63): Show | 69 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(66): Show |
intron_variant | MODIFIER | c.652-1130T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50128587 | ||||||
| chr7:50128661
|
C | A | 164 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(161): Show | 171 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(168): Show |
intron_variant | MODIFIER | c.652-1056C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50128661 | ||||||
| chr7:50128813
|
T | C | 256 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(253): Show | 266 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(263): Show |
intron_variant | MODIFIER | c.652-904T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50128813 | ||||||
| chr7:50128839
|
A | T | 1 | a0002c0002t0003g0244 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.652-878A>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50128839 | ||||||
| chr7:50128862
|
A | G | 8 | a0002c0002t0001g0118a0002c0005t0001g0306a0002c0005t0001g0310others(5): Show | 8 | HG02080.hp1 HG02135.hp1 HG02165.hp2 others(5): Show |
intron_variant | MODIFIER | c.652-855A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50128862 | ||||||
| chr7:50128974
|
T | C | 1 | a0001c0001t0001g0034 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.652-743T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50128974 | ||||||
| chr7:50129011
|
G | A | 1 | a0003c0003t0001g0074 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.652-706G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50129011 | ||||||
| chr7:50129099
|
T | C | 1 | a0001c0001t0001g0150 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.652-618T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50129099 | ||||||
| chr7:50129104
|
G | A | 1 | a0001c0001t0001g0188 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.652-613G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50129104 | ||||||
| chr7:50129125
|
G | T | 66 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(63): Show | 69 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(66): Show |
intron_variant | MODIFIER | c.652-592G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50129125 | ||||||
| chr7:50129527
|
C | A | 2 | a0001c0001t0001g0105a0001c0001t0004g0106 | 2 | HG03486.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.652-190C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50129527 | ||||||
| chr7:50129651
|
A | G | 3 | a0001c0001t0001g0129a0001c0001t0001g0199a0001c0001t0001g0238 | 3 | HG02622.hp1 HG03130.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.652-66A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50129651 | ||||||
| chr7:50129711
|
T | G | 1 | a0001c0001t0001g0172 | 1 | HG02922.hp2 | splice_region_variant&intron_variant | LOW | c.652-6T>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | 50129711 | ||||||
| chr7:50129912
|
G | A | 255 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(252): Show | 265 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(262): Show |
intron_variant | MODIFIER | c.728+119G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50129912 | ||||||
| chr7:50129959
|
G | C | 1 | a0001c0001t0001g0178 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.728+166G>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50129959 | ||||||
| chr7:50129999
|
T | A | 255 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(252): Show | 265 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(262): Show |
intron_variant | MODIFIER | c.728+206T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50129999 | ||||||
| chr7:50130164
|
T | C | 1 | a0003c0006t0001g0303 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.728+371T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50130164 | ||||||
| chr7:50130241
|
C | A | 67 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(64): Show | 70 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(67): Show |
intron_variant | MODIFIER | c.728+448C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50130241 | ||||||
| chr7:50130427
|
C | A | 1 | a0008c0013t0001g0109 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.728+634C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50130427 | ||||||
| chr7:50130433
|
C | T | 1 | a0003c0006t0001g0250 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.728+640C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50130433 | ||||||
| chr7:50130460
|
C | T | 3 | a0003c0006t0001g0131a0003c0006t0001g0211a0010c0014t0004g0210 | 3 | HG01993.hp2 HG03041.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.728+667C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50130460 | ||||||
| chr7:50130494
|
C | G | 255 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(252): Show | 265 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(262): Show |
intron_variant | MODIFIER | c.728+701C>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50130494 | ||||||
| chr7:50130496
|
CAGGTAAG others(4): Show |
C | 2 | a0001c0001t0001g0105a0001c0001t0004g0106 | 2 | HG03486.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.728+705_728+715del others(11): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | 50130496 | |||||
| chr7:50130508
|
A | C | 2 | a0001c0001t0001g0105a0001c0001t0004g0106 | 2 | HG03486.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.728+715A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50130508 | ||||||
| chr7:50130510
|
T | G | 2 | a0001c0001t0001g0105a0001c0001t0004g0106 | 2 | HG03486.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.728+717T>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50130510 | ||||||
| chr7:50130532
|
G | T | 9 | a0002c0005t0001g0251a0002c0005t0001g0252a0002c0005t0001g0253others(6): Show | 9 | HG01891.hp2 HG02622.hp2 HG02922.hp1 others(6): Show |
intron_variant | MODIFIER | c.728+739G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50130532 | ||||||
| chr7:50130562
|
G | C | 2 | a0001c0001t0001g0240a0004c0004t0001g0239 | 2 | HG02559.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.728+769G>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50130562 | ||||||
| chr7:50130655
|
A | G | 10 | a0001c0001t0001g0195a0003c0003t0001g0015a0003c0003t0001g0016others(7): Show | 12 | HG00642.hp1 HG01167.hp2 HG01168.hp1 others(9): Show |
intron_variant | MODIFIER | c.728+862A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50130655 | ||||||
| chr7:50130712
|
G | A | 1 | a0003c0003t0001g0283 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.728+919G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50130712 | ||||||
| chr7:50130727
|
C | T | 4 | a0001c0001t0001g0147a0001c0001t0001g0148a0001c0001t0001g0186others(1): Show | 4 | HG01928.hp2 NA18946.hp2 NA18962.hp1 others(1): Show |
intron_variant | MODIFIER | c.728+934C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50130727 | ||||||
| chr7:50130728
|
A | G | 18 | a0001c0001t0005g0222a0004c0004t0001g0010a0004c0004t0001g0041others(15): Show | 19 | HG01891.hp1 HG02280.hp1 HG02451.hp2 others(16): Show |
intron_variant | MODIFIER | c.728+935A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50130728 | ||||||
| chr7:50130742
|
G | T | 5 | a0002c0002t0003g0018a0002c0002t0003g0242a0002c0002t0003g0243others(2): Show | 5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.728+949G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50130742 | ||||||
| chr7:50130814
|
A | G | 92 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(89): Show | 95 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(92): Show |
intron_variant | MODIFIER | c.728+1021A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50130814 | ||||||
| chr7:50130828
|
C | T | 1 | a0001c0001t0001g0235 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.728+1035C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50130828 | ||||||
| chr7:50130930
|
G | A | 8 | a0003c0003t0001g0017a0003c0003t0001g0270a0003c0003t0001g0271others(5): Show | 9 | HG01074.hp1 HG01167.hp1 HG01257.hp1 others(6): Show |
intron_variant | MODIFIER | c.728+1137G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50130930 | ||||||
| chr7:50131007
|
G | A | 1 | a0003c0003t0001g0080 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.728+1214G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50131007 | ||||||
| chr7:50131239
|
A | G | 1 | a0001c0001t0001g0230 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.728+1446A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50131239 | ||||||
| chr7:50131274
|
C | T | 1 | a0002c0002t0001g0060 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.728+1481C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50131274 | ||||||
| chr7:50131338
|
A | G | 5 | a0003c0003t0001g0274a0003c0003t0001g0275a0003c0003t0001g0276others(2): Show | 5 | NA18612.hp2 NA18747.hp2 NA18972.hp1 others(2): Show |
intron_variant | MODIFIER | c.728+1545A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50131338 | ||||||
| chr7:50131422
|
C | T | 255 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(252): Show | 265 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(262): Show |
intron_variant | MODIFIER | c.728+1629C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50131422 | ||||||
| chr7:50131589
|
G | A | 5 | a0002c0002t0003g0018a0002c0002t0003g0242a0002c0002t0003g0243others(2): Show | 5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.728+1796G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50131589 | ||||||
| chr7:50131876
|
A | G | 255 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(252): Show | 265 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(262): Show |
intron_variant | MODIFIER | c.728+2083A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50131876 | ||||||
| chr7:50131895
|
G | T | 66 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(63): Show | 69 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(66): Show |
intron_variant | MODIFIER | c.728+2102G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50131895 | ||||||
| chr7:50131930
|
G | A | 1 | a0002c0002t0001g0054 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.728+2137G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50131930 | ||||||
| chr7:50131936
|
T | A | 160 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(157): Show | 167 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(164): Show |
intron_variant | MODIFIER | c.728+2143T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50131936 | ||||||
| chr7:50131950
|
A | G | 1 | a0001c0001t0001g0111 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.728+2157A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50131950 | ||||||
| chr7:50132015
|
A | T | 1 | a0002c0005t0001g0256 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.729-2093A>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50132015 | ||||||
| chr7:50132256
|
T | C | 1 | a0001c0001t0001g0163 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.729-1852T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50132256 | ||||||
| chr7:50132528
|
T | G | 3 | a0001c0001t0001g0212a0001c0001t0001g0213a0001c0001t0001g0214 | 3 | HG01433.hp1 HG02809.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.729-1580T>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50132528 | ||||||
| chr7:50132578
|
G | T | 1 | a0004c0004t0001g0084 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.729-1530G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50132578 | ||||||
| chr7:50132872
|
T | C | 95 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(92): Show | 98 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(95): Show |
intron_variant | MODIFIER | c.729-1236T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50132872 | ||||||
| chr7:50132882
|
A | G | 95 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(92): Show | 98 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(95): Show |
intron_variant | MODIFIER | c.729-1226A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50132882 | ||||||
| chr7:50133091
|
T | C | 3 | a0001c0001t0001g0028a0001c0001t0001g0150a0001c0001t0001g0192 | 3 | HG00609.hp1 NA18612.hp1 NA19079.hp1 |
intron_variant | MODIFIER | c.729-1017T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50133091 | ||||||
| chr7:50133164
|
T | G | 1 | a0001c0001t0001g0216 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.729-944T>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50133164 | ||||||
| chr7:50133219
|
ATTTGTGT others(7): Show |
A | 5 | a0003c0003t0001g0274a0003c0003t0001g0275a0003c0003t0001g0276others(2): Show | 5 | NA18612.hp2 NA18747.hp2 NA18972.hp1 others(2): Show |
intron_variant | MODIFIER | c.729-873_729-860del others(14): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | 50133219 | |||||
| chr7:50133235
|
TTG | T | 159 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(156): Show | 166 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(163): Show |
intron_variant | MODIFIER | c.729-853_729-852del others(2): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | 50133235 | |||||
| chr7:50133241
|
G | A | 1 | a0003c0003t0001g0015 | 2 | HG01256.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.729-867G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50133241 | ||||||
| chr7:50133281
|
C | A | 66 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(63): Show | 69 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(66): Show |
intron_variant | MODIFIER | c.729-827C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50133281 | ||||||
| chr7:50133369
|
G | A | 2 | a0001c0001t0001g0164a0001c0001t0001g0201 | 2 | HG01099.hp1 HG02300.hp1 |
intron_variant | MODIFIER | c.729-739G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50133369 | ||||||
| chr7:50133514
|
T | C | 3 | a0001c0001t0001g0212a0001c0001t0001g0213a0001c0001t0001g0214 | 3 | HG01433.hp1 HG02809.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.729-594T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50133514 | ||||||
| chr7:50133685
|
A | G | 9 | a0002c0005t0001g0251a0002c0005t0001g0252a0002c0005t0001g0253others(6): Show | 9 | HG01891.hp2 HG02622.hp2 HG02922.hp1 others(6): Show |
intron_variant | MODIFIER | c.729-423A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50133685 | ||||||
| chr7:50133989
|
C | A | 4 | a0001c0001t0001g0129a0001c0001t0001g0138a0001c0001t0001g0199others(1): Show | 4 | HG02622.hp1 HG03130.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.729-119C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50133989 | ||||||
| chr7:50134089
|
C | T | 5 | a0002c0002t0001g0118a0002c0005t0001g0306a0002c0005t0001g0310others(2): Show | 5 | HG02165.hp2 HG02523.hp1 HG03704.hp2 others(2): Show |
intron_variant | MODIFIER | c.729-19C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50134089 | ||||||
| chr7:50134106
|
A | G | 1 | a0004c0004t0001g0225 | 1 | HG03225.hp1 | splice_acceptor_variant&intron_variant | HIGH | c.729-2A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 3/8 | chr7 | 50134106 | ||||||
| chr7:50134289
|
T | C | 1 | a0002c0005t0001g0258 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.867+43T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | chr7 | 50134289 | ||||||
| chr7:50134346
|
C | T | 1 | a0002c0005t0001g0264 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.867+100C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | chr7 | 50134346 | ||||||
| chr7:50134377
|
AAT | A | 6 | a0001c0001t0001g0123a0001c0001t0001g0124a0001c0001t0001g0125others(3): Show | 6 | HG02015.hp1 HG02300.hp2 NA18944.hp2 others(3): Show |
intron_variant | MODIFIER | c.867+139_867+140del others(2): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | 50134377 | |||||
| chr7:50134381
|
T | C | 1 | a0001c0001t0001g0138 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.867+135T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | chr7 | 50134381 | ||||||
| chr7:50134381
|
T | TAC | 4 | a0001c0001t0001g0149a0001c0001t0001g0178a0001c0001t0001g0184others(1): Show | 4 | HG00423.hp2 HG02165.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.867+136_867+137ins others(2): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | 50134381 | |||||
| chr7:50134383
|
T | C | 158 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(155): Show | 165 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(162): Show |
intron_variant | MODIFIER | c.867+137T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | chr7 | 50134383 | ||||||
| chr7:50134383
|
T | TAC | 8 | a0002c0002t0003g0242a0002c0002t0003g0243a0002c0002t0003g0244others(5): Show | 8 | HG02630.hp1 HG02717.hp2 HG02886.hp1 others(5): Show |
intron_variant | MODIFIER | c.867+138_867+139ins others(2): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | 50134383 | |||||
| chr7:50134385
|
T | C | 256 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(253): Show | 266 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(263): Show |
intron_variant | MODIFIER | c.867+139T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | chr7 | 50134385 | ||||||
| chr7:50134463
|
T | C | 256 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(253): Show | 266 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(263): Show |
intron_variant | MODIFIER | c.867+217T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | chr7 | 50134463 | ||||||
| chr7:50134744
|
T | C | 1 | a0003c0006t0001g0250 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.867+498T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | chr7 | 50134744 | ||||||
| chr7:50134829
|
G | A | 2 | a0002c0005t0001g0260a0002c0005t0001g0261 | 2 | HG02717.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.867+583G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | chr7 | 50134829 | ||||||
| chr7:50134961
|
C | T | 161 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(158): Show | 168 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(165): Show |
intron_variant | MODIFIER | c.867+715C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | chr7 | 50134961 | ||||||
| chr7:50134978
|
C | T | 92 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(89): Show | 95 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(92): Show |
intron_variant | MODIFIER | c.867+732C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | chr7 | 50134978 | ||||||
| chr7:50135008
|
A | G | 3 | a0001c0001t0001g0172a0001c0001t0001g0240a0004c0004t0001g0239 | 3 | HG02559.hp1 HG02922.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.867+762A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | chr7 | 50135008 | ||||||
| chr7:50135078
|
C | T | 18 | a0001c0001t0005g0222a0004c0004t0001g0010a0004c0004t0001g0041others(15): Show | 19 | HG01891.hp1 HG02280.hp1 HG02451.hp2 others(16): Show |
intron_variant | MODIFIER | c.867+832C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | chr7 | 50135078 | ||||||
| chr7:50135180
|
C | T | 8 | a0001c0001t0002g0001a0001c0001t0002g0127a0001c0001t0002g0151others(5): Show | 11 | HG00099.hp2 HG00323.hp2 HG00733.hp1 others(8): Show |
intron_variant | MODIFIER | c.868-918C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | chr7 | 50135180 | ||||||
| chr7:50135232
|
G | A | 8 | a0002c0002t0003g0018a0002c0002t0003g0242a0002c0002t0003g0243others(5): Show | 8 | HG01993.hp2 HG02630.hp1 HG02886.hp1 others(5): Show |
intron_variant | MODIFIER | c.868-866G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | chr7 | 50135232 | ||||||
| chr7:50135283
|
C | T | 5 | a0002c0002t0001g0118a0002c0005t0001g0306a0002c0005t0001g0310others(2): Show | 5 | HG02165.hp2 HG02523.hp1 HG03704.hp2 others(2): Show |
intron_variant | MODIFIER | c.868-815C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | chr7 | 50135283 | ||||||
| chr7:50135303
|
C | T | 1 | a0001c0001t0001g0207 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.868-795C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | chr7 | 50135303 | ||||||
| chr7:50135636
|
G | A | 2 | a0003c0003t0001g0274a0003c0003t0001g0275 | 2 | NA18612.hp2 NA19060.hp2 |
intron_variant | MODIFIER | c.868-462G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | chr7 | 50135636 | ||||||
| chr7:50135692
|
T | C | 1 | a0002c0005t0001g0263 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.868-406T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | chr7 | 50135692 | ||||||
| chr7:50135839
|
C | T | 157 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(154): Show | 164 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(161): Show |
intron_variant | MODIFIER | c.868-259C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | chr7 | 50135839 | ||||||
| chr7:50136057
|
C | A | 3 | a0001c0001t0001g0212a0001c0001t0001g0213a0001c0001t0001g0214 | 3 | HG01433.hp1 HG02809.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.868-41C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | chr7 | 50136057 | ||||||
| chr7:50136058
|
G | A | 91 | a0001c0001t0001g0125a0001c0001t0001g0290a0002c0002t0001g0003others(88): Show | 94 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(91): Show |
intron_variant | MODIFIER | c.868-40G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | chr7 | 50136058 | ||||||
| chr7:50136085
|
C | T | 157 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(154): Show | 164 | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(161): Show |
intron_variant | MODIFIER | c.868-13C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 4/8 | chr7 | 50136085 | ||||||
| chr7:50136195
|
T | C | 2 | a0003c0003t0001g0288a0003c0003t0001g0289 | 2 | HG02976.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.935+30T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50136195 | ||||||
| chr7:50136239
|
T | C | 1 | a0003c0003t0001g0267 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.935+74T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50136239 | ||||||
| chr7:50136314
|
T | A | 1 | a0001c0001t0001g0117 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.935+149T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50136314 | ||||||
| chr7:50136467
|
A | AT | 254 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(251): Show | 264 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(261): Show |
intron_variant | MODIFIER | c.935+303dupT | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | 50136467 | |||||
| chr7:50136486
|
C | T | 1 | a0001c0001t0001g0237 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.935+321C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50136486 | ||||||
| chr7:50136567
|
A | G | 157 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(154): Show | 164 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(161): Show |
intron_variant | MODIFIER | c.935+402A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50136567 | ||||||
| chr7:50136579
|
A | G | 3 | a0003c0003t0001g0023a0003c0003t0001g0267a0003c0003t0001g0297 | 3 | HG02074.hp1 NA19064.hp2 NA19089.hp1 |
intron_variant | MODIFIER | c.935+414A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50136579 | ||||||
| chr7:50136580
|
C | A | 2 | a0002c0010t0001g0308a0002c0010t0001g0309 | 2 | HG02165.hp2 HG02523.hp1 |
intron_variant | MODIFIER | c.935+415C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50136580 | ||||||
| chr7:50136720
|
C | T | 16 | a0001c0001t0001g0290a0002c0005t0001g0251a0002c0005t0001g0252others(13): Show | 16 | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(13): Show |
intron_variant | MODIFIER | c.935+555C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50136720 | ||||||
| chr7:50136753
|
T | TA | 7 | a0002c0002t0003g0018a0002c0002t0003g0242a0002c0002t0003g0243others(4): Show | 7 | HG01993.hp2 HG02630.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.935+594dupA | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | 50136753 | |||||
| chr7:50136803
|
A | G | 8 | a0002c0002t0001g0118a0002c0005t0001g0306a0002c0005t0001g0310others(5): Show | 8 | HG02080.hp1 HG02135.hp1 HG02165.hp2 others(5): Show |
intron_variant | MODIFIER | c.935+638A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50136803 | ||||||
| chr7:50136813
|
G | T | 248 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(245): Show | 258 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(255): Show |
intron_variant | MODIFIER | c.935+648G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50136813 | ||||||
| chr7:50136887
|
A | G | 4 | a0003c0003t0001g0247a0003c0003t0001g0248a0003c0003t0001g0249others(1): Show | 4 | HG00140.hp1 HG00738.hp1 HG01074.hp1 others(1): Show |
intron_variant | MODIFIER | c.935+722A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50136887 | ||||||
| chr7:50136934
|
T | C | 1 | a0002c0005t0001g0261 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.935+769T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50136934 | ||||||
| chr7:50136974
|
T | A | 2 | a0001c0001t0002g0127a0001c0001t0002g0151 | 2 | HG00099.hp2 HG00735.hp1 |
intron_variant | MODIFIER | c.935+809T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50136974 | ||||||
| chr7:50137025
|
G | A | 1 | a0003c0003t0001g0272 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.935+860G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50137025 | ||||||
| chr7:50137183
|
A | G | 136 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(133): Show | 142 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(139): Show |
intron_variant | MODIFIER | c.935+1018A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50137183 | ||||||
| chr7:50137326
|
C | G | 247 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(244): Show | 257 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(254): Show |
intron_variant | MODIFIER | c.935+1161C>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50137326 | ||||||
| chr7:50137343
|
A | G | 7 | a0002c0002t0003g0018a0002c0002t0003g0242a0002c0002t0003g0243others(4): Show | 7 | HG01993.hp2 HG02630.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.935+1178A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50137343 | ||||||
| chr7:50137346
|
T | C | 9 | a0002c0005t0001g0251a0002c0005t0001g0252a0002c0005t0001g0253others(6): Show | 9 | HG01891.hp2 HG02622.hp2 HG02922.hp1 others(6): Show |
intron_variant | MODIFIER | c.935+1181T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50137346 | ||||||
| chr7:50137373
|
G | GT | 3 | a0001c0001t0001g0028a0001c0001t0001g0150a0001c0001t0001g0192 | 3 | HG00609.hp1 NA18612.hp1 NA19079.hp1 |
intron_variant | MODIFIER | c.935+1212dupT | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | 50137373 | |||||
| chr7:50137549
|
G | A | 135 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(132): Show | 141 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(138): Show |
intron_variant | MODIFIER | c.935+1384G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50137549 | ||||||
| chr7:50137560
|
T | C | 1 | a0001c0001t0001g0034 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.935+1395T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50137560 | ||||||
| chr7:50137642
|
G | A | 1 | a0001c0001t0001g0193 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.935+1477G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50137642 | ||||||
| chr7:50137673
|
T | C | 2 | a0001c0001t0001g0179a0001c0001t0001g0188 | 2 | HG00280.hp2 HG01515.hp1 |
intron_variant | MODIFIER | c.935+1508T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50137673 | ||||||
| chr7:50137686
|
T | TA | 8 | a0002c0002t0001g0118a0002c0005t0001g0306a0002c0005t0001g0310others(5): Show | 8 | HG02080.hp1 HG02135.hp1 HG02165.hp2 others(5): Show |
intron_variant | MODIFIER | c.935+1530dupA | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | 50137686 | |||||
| chr7:50137838
|
T | C | 1 | a0003c0003t0001g0294 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.935+1673T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50137838 | ||||||
| chr7:50138110
|
T | C | 136 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(133): Show | 142 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(139): Show |
intron_variant | MODIFIER | c.935+1945T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50138110 | ||||||
| chr7:50138299
|
C | T | 7 | a0001c0001t0001g0129a0001c0001t0001g0138a0001c0001t0001g0199others(4): Show | 7 | HG02280.hp1 HG02622.hp1 HG03041.hp1 others(4): Show |
intron_variant | MODIFIER | c.936-1841C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50138299 | ||||||
| chr7:50138446
|
C | T | 1 | a0002c0002t0001g0044 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.936-1694C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50138446 | ||||||
| chr7:50138620
|
T | C | 139 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(136): Show | 145 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(142): Show |
intron_variant | MODIFIER | c.936-1520T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50138620 | ||||||
| chr7:50138764
|
A | AT | 8 | a0001c0001t0001g0034a0002c0005t0001g0256a0002c0005t0001g0257others(5): Show | 8 | HG00280.hp1 HG02055.hp2 HG04199.hp1 others(5): Show |
intron_variant | MODIFIER | c.936-1363dupT | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | 50138764 | |||||
| chr7:50138764
|
A | ATT | 69 | a0001c0001t0001g0009a0001c0001t0001g0027a0001c0001t0001g0028others(66): Show | 73 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(70): Show |
intron_variant | MODIFIER | c.936-1364_936-1363d others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | 50138764 | |||||
| chr7:50138769
|
T | TTA | 52 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0025others(49): Show | 54 | HG00639.hp2 HG00741.hp1 HG01070.hp1 others(51): Show |
intron_variant | MODIFIER | c.936-1370_936-1369i others(4): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | 50138769 | |||||
| chr7:50138795
|
G | A | 250 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(247): Show | 260 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(257): Show |
intron_variant | MODIFIER | c.936-1345G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50138795 | ||||||
| chr7:50138981
|
T | G | 1 | a0001c0001t0001g0141 | 1 | NA18978.hp2 | intron_variant | MODIFIER | c.936-1159T>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50138981 | ||||||
| chr7:50139025
|
T | C | 111 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(108): Show | 115 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(112): Show |
intron_variant | MODIFIER | c.936-1115T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50139025 | ||||||
| chr7:50139122
|
A | G | 250 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(247): Show | 260 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(257): Show |
intron_variant | MODIFIER | c.936-1018A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50139122 | ||||||
| chr7:50139145
|
T | C | 1 | a0001c0001t0001g0200 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.936-995T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50139145 | ||||||
| chr7:50139157
|
T | G | 1 | a0004c0004t0001g0032 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.936-983T>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50139157 | ||||||
| chr7:50139241
|
C | T | 1 | a0002c0002t0001g0093 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.936-899C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50139241 | ||||||
| chr7:50139336
|
C | T | 139 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(136): Show | 145 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(142): Show |
intron_variant | MODIFIER | c.936-804C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50139336 | ||||||
| chr7:50139349
|
CA | C | 11 | a0001c0001t0001g0119a0001c0001t0001g0180a0001c0001t0001g0183others(8): Show | 13 | HG00642.hp1 HG00735.hp2 HG01167.hp2 others(10): Show |
intron_variant | MODIFIER | c.936-777delA | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | 50139349 | |||||
| chr7:50139646
|
C | A | 1 | a0002c0002t0001g0070 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.936-494C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50139646 | ||||||
| chr7:50139864
|
A | C | 1 | a0001c0001t0001g0138 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.936-276A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50139864 | ||||||
| chr7:50140007
|
C | CACA | 4 | a0002c0002t0001g0004a0002c0002t0001g0062a0002c0002t0001g0063others(1): Show | 5 | HG00642.hp2 HG01175.hp2 HG01243.hp2 others(2): Show |
intron_variant | MODIFIER | c.936-131_936-129dup others(3): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | 50140007 | |||||
| chr7:50140013
|
C | T | 113 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(110): Show | 117 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(114): Show |
intron_variant | MODIFIER | c.936-127C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | chr7 | 50140013 | ||||||
| chr7:50140213
|
T | A | 1 | a0001c0001t0002g0152 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.977+32T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 6/8 | chr7 | 50140213 | ||||||
| chr7:50140269
|
T | G | 1 | a0010c0014t0004g0210 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.977+88T>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 6/8 | chr7 | 50140269 | ||||||
| chr7:50140457
|
C | T | 1 | a0010c0014t0004g0210 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.977+276C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 6/8 | chr7 | 50140457 | ||||||
| chr7:50140516
|
T | C | 139 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(136): Show | 145 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(142): Show |
intron_variant | MODIFIER | c.977+335T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 6/8 | chr7 | 50140516 | ||||||
| chr7:50140593
|
G | A | 1 | a0010c0014t0004g0210 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.977+412G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 6/8 | chr7 | 50140593 | ||||||
| chr7:50140793
|
C | G | 1 | a0001c0001t0001g0034 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.978-488C>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 6/8 | chr7 | 50140793 | ||||||
| chr7:50140849
|
C | T | 99 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(96): Show | 103 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(100): Show |
intron_variant | MODIFIER | c.978-432C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 6/8 | chr7 | 50140849 | ||||||
| chr7:50140896
|
G | C | 3 | a0002c0002t0001g0061a0002c0002t0001g0086a0002c0002t0001g0087 | 3 | HG00323.hp1 HG01106.hp1 HG01256.hp1 |
intron_variant | MODIFIER | c.978-385G>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 6/8 | chr7 | 50140896 | ||||||
| chr7:50140988
|
T | C | 1 | a0003c0003t0001g0280 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.978-293T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 6/8 | chr7 | 50140988 | ||||||
| chr7:50141457
|
A | G | 1 | a0001c0001t0001g0240 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1085+69A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50141457 | ||||||
| chr7:50141603
|
G | A | 68 | a0001c0001t0001g0009a0001c0001t0001g0027a0001c0001t0001g0028others(65): Show | 72 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(69): Show |
intron_variant | MODIFIER | c.1085+215G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50141603 | ||||||
| chr7:50141653
|
A | G | 250 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(247): Show | 260 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(257): Show |
intron_variant | MODIFIER | c.1085+265A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50141653 | ||||||
| chr7:50141727
|
C | CT | 5 | a0003c0003t0001g0011a0003c0003t0001g0023a0003c0003t0001g0272others(2): Show | 6 | HG03239.hp2 HG03654.hp1 HG03704.hp1 others(3): Show |
intron_variant | MODIFIER | c.1085+359dupT | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50141727 | |||||
| chr7:50141727
|
C | CTTTTTTT | 13 | a0002c0002t0001g0118a0002c0005t0001g0252a0002c0005t0001g0253others(10): Show | 13 | HG01891.hp2 HG01993.hp2 HG02165.hp2 others(10): Show |
intron_variant | MODIFIER | c.1085+353_1085+359d others(9): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50141727 | |||||
| chr7:50141727
|
C | CTTTTTTT others(1): Show |
28 | a0001c0001t0001g0163a0001c0001t0001g0170a0001c0001t0001g0212others(25): Show | 29 | HG01516.hp2 HG01891.hp1 HG02145.hp1 others(26): Show |
intron_variant | MODIFIER | c.1085+352_1085+359d others(10): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50141727 | |||||
| chr7:50141727
|
C | CTTTTTTT others(2): Show |
90 | a0001c0001t0001g0007a0001c0001t0001g0025a0001c0001t0001g0027others(87): Show | 94 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(91): Show |
intron_variant | MODIFIER | c.1085+351_1085+359d others(11): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50141727 | |||||
| chr7:50141727
|
C | CTTTTTTT others(3): Show |
85 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0026others(82): Show | 90 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(87): Show |
intron_variant | MODIFIER | c.1085+350_1085+359d others(12): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50141727 | |||||
| chr7:50141727
|
C | CTTTTTTT others(4): Show |
24 | a0001c0001t0001g0029a0001c0001t0001g0128a0001c0001t0001g0157others(21): Show | 24 | HG00597.hp1 HG00609.hp2 HG00741.hp2 others(21): Show |
intron_variant | MODIFIER | c.1085+349_1085+359d others(13): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50141727 | |||||
| chr7:50141727
|
C | CTTTTTTT others(5): Show |
4 | a0002c0002t0001g0097a0002c0002t0001g0098a0004c0004t0001g0032others(1): Show | 4 | HG02257.hp1 HG02559.hp2 NA19064.hp1 others(1): Show |
intron_variant | MODIFIER | c.1085+348_1085+359d others(14): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50141727 | |||||
| chr7:50141727
|
C | CTTTTTTT others(7): Show |
1 | a0002c0002t0001g0058 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.1085+346_1085+359d others(16): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50141727 | |||||
| chr7:50141727
|
C | CTTTTTTT others(8): Show |
1 | a0002c0002t0001g0079 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.1085+345_1085+359d others(17): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50141727 | |||||
| chr7:50141727
|
C | CTTTTTTT others(11): Show |
1 | a0001c0001t0001g0034 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1085+342_1085+359d others(20): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50141727 | |||||
| chr7:50141761
|
G | A | 137 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(134): Show | 143 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(140): Show |
intron_variant | MODIFIER | c.1085+373G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50141761 | ||||||
| chr7:50141785
|
G | A | 1 | a0001c0001t0001g0240 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1085+397G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50141785 | ||||||
| chr7:50142005
|
G | A | 5 | a0002c0002t0001g0118a0002c0005t0001g0306a0002c0005t0001g0310others(2): Show | 5 | HG02165.hp2 HG02523.hp1 HG03704.hp2 others(2): Show |
intron_variant | MODIFIER | c.1085+617G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50142005 | ||||||
| chr7:50142149
|
T | A | 1 | a0002c0002t0003g0242 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1085+761T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50142149 | ||||||
| chr7:50142212
|
A | G | 2 | a0002c0002t0001g0057a0002c0002t0001g0059 | 2 | HG01934.hp2 HG01981.hp1 |
intron_variant | MODIFIER | c.1085+824A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50142212 | ||||||
| chr7:50142483
|
T | C | 250 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(247): Show | 260 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(257): Show |
intron_variant | MODIFIER | c.1085+1095T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50142483 | ||||||
| chr7:50142528
|
T | C | 1 | a0010c0014t0004g0210 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.1085+1140T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50142528 | ||||||
| chr7:50142630
|
C | T | 7 | a0001c0001t0001g0119a0003c0003t0001g0015a0003c0003t0001g0016others(4): Show | 9 | HG00642.hp1 HG00735.hp2 HG01167.hp2 others(6): Show |
intron_variant | MODIFIER | c.1085+1242C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50142630 | ||||||
| chr7:50142710
|
G | C | 3 | a0002c0005t0001g0260a0002c0005t0001g0261a0004c0004t0001g0239 | 3 | HG02559.hp1 HG02717.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.1085+1322G>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50142710 | ||||||
| chr7:50142878
|
T | G | 1 | a0001c0001t0001g0034 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1085+1490T>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50142878 | ||||||
| chr7:50142893
|
T | C | 3 | a0001c0001t0001g0122a0005c0008t0001g0190a0005c0008t0001g0208 | 3 | NA18944.hp1 NA19087.hp1 NA19089.hp2 |
intron_variant | MODIFIER | c.1085+1505T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50142893 | ||||||
| chr7:50142961
|
C | A | 1 | a0010c0014t0004g0210 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.1085+1573C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50142961 | ||||||
| chr7:50142964
|
C | T | 1 | a0001c0001t0001g0034 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1085+1576C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50142964 | ||||||
| chr7:50142993
|
C | A | 1 | a0001c0001t0001g0147 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.1085+1605C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50142993 | ||||||
| chr7:50143027
|
A | T | 2 | a0002c0002t0001g0035a0002c0002t0001g0054 | 2 | HG02683.hp1 NA19011.hp2 |
intron_variant | MODIFIER | c.1085+1639A>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50143027 | ||||||
| chr7:50143158
|
CAT | C | 4 | a0002c0002t0003g0018a0002c0002t0003g0242a0002c0002t0003g0243others(1): Show | 4 | HG02630.hp1 HG02886.hp1 NA18522.hp2 others(1): Show |
intron_variant | MODIFIER | c.1085+1771_1085+177 others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50143158 | ||||||
| chr7:50143159
|
A | AT | 6 | a0002c0002t0001g0090a0002c0005t0001g0255a0003c0003t0001g0291others(3): Show | 6 | HG01168.hp1 HG01175.hp1 HG02258.hp2 others(3): Show |
intron_variant | MODIFIER | c.1085+1793dupT | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50143159 | |||||
| chr7:50143159
|
AT | A | 85 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(82): Show | 91 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(88): Show |
intron_variant | MODIFIER | c.1085+1793delT | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50143159 | |||||
| chr7:50143159
|
ATT | A | 13 | a0001c0001t0001g0009a0001c0001t0001g0180a0001c0001t0001g0182others(10): Show | 14 | HG01993.hp2 HG02074.hp2 HG02165.hp2 others(11): Show |
intron_variant | MODIFIER | c.1085+1792_1085+179 others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50143159 | |||||
| chr7:50143159
|
ATTT | A | 74 | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0029others(71): Show | 77 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(74): Show |
intron_variant | MODIFIER | c.1085+1791_1085+179 others(7): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50143159 | |||||
| chr7:50143159
|
ATTTT | A | 53 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0025others(50): Show | 55 | HG00323.hp2 HG00639.hp2 HG00741.hp1 others(52): Show |
intron_variant | MODIFIER | c.1085+1790_1085+179 others(8): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50143159 | |||||
| chr7:50143222
|
T | C | 5 | a0002c0002t0001g0118a0002c0005t0001g0306a0002c0005t0001g0310others(2): Show | 5 | HG02165.hp2 HG02523.hp1 HG03704.hp2 others(2): Show |
intron_variant | MODIFIER | c.1085+1834T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50143222 | ||||||
| chr7:50143473
|
C | T | 1 | a0001c0001t0001g0034 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1085+2085C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50143473 | ||||||
| chr7:50143563
|
T | A | 1 | a0010c0014t0004g0210 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.1085+2175T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50143563 | ||||||
| chr7:50143628
|
T | A | 1 | a0010c0014t0004g0210 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.1085+2240T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50143628 | ||||||
| chr7:50143649
|
G | T | 118 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(115): Show | 124 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(121): Show |
intron_variant | MODIFIER | c.1085+2261G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50143649 | ||||||
| chr7:50143860
|
T | C | 5 | a0002c0002t0001g0003a0002c0002t0001g0052a0002c0002t0001g0072others(2): Show | 6 | HG01175.hp1 HG01257.hp2 HG01258.hp2 others(3): Show |
intron_variant | MODIFIER | c.1085+2472T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50143860 | ||||||
| chr7:50143880
|
C | A | 1 | a0001c0001t0001g0198 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.1085+2492C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50143880 | ||||||
| chr7:50144319
|
T | C | 1 | a0004c0004t0001g0069 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.1085+2931T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50144319 | ||||||
| chr7:50144448
|
A | G | 9 | a0002c0005t0001g0251a0002c0005t0001g0252a0002c0005t0001g0253others(6): Show | 9 | HG01891.hp2 HG02622.hp2 HG02922.hp1 others(6): Show |
intron_variant | MODIFIER | c.1085+3060A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50144448 | ||||||
| chr7:50144593
|
G | A | 5 | a0002c0002t0001g0118a0002c0005t0001g0306a0002c0005t0001g0310others(2): Show | 5 | HG02165.hp2 HG02523.hp1 HG03704.hp2 others(2): Show |
intron_variant | MODIFIER | c.1085+3205G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50144593 | ||||||
| chr7:50145008
|
T | C | 1 | a0001c0001t0001g0029 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1085+3620T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145008 | ||||||
| chr7:50145079
|
T | C | 1 | a0002c0002t0001g0091 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.1085+3691T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145079 | ||||||
| chr7:50145135
|
C | T | 9 | a0002c0005t0001g0251a0002c0005t0001g0252a0002c0005t0001g0253others(6): Show | 9 | HG01891.hp2 HG02622.hp2 HG02922.hp1 others(6): Show |
intron_variant | MODIFIER | c.1085+3747C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145135 | ||||||
| chr7:50145304
|
T | A | 1 | a0001c0001t0001g0165 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1085+3916T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145304 | ||||||
| chr7:50145324
|
T | C | 2 | a0001c0001t0001g0105a0001c0001t0004g0106 | 2 | HG03486.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.1085+3936T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145324 | ||||||
| chr7:50145355
|
G | A | 1 | a0001c0001t0001g0034 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1085+3967G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145355 | ||||||
| chr7:50145570
|
GTA | G | 135 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(132): Show | 141 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(138): Show |
intron_variant | MODIFIER | c.1085+4194_1085+419 others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145570 | |||||
| chr7:50145572
|
A | G | 1 | a0001c0001t0001g0168 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1085+4184A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145572 | ||||||
| chr7:50145582
|
A | G | 1 | a0001c0001t0001g0146 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.1085+4194A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145582 | ||||||
| chr7:50145585
|
T | C | 1 | a0001c0001t0001g0146 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.1085+4197T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145585 | ||||||
| chr7:50145587
|
C | T | 1 | a0001c0001t0001g0146 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.1085+4199C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145587 | ||||||
| chr7:50145604
|
G | GTGTA | 12 | a0002c0002t0001g0037a0002c0002t0001g0057a0002c0002t0001g0059others(9): Show | 12 | HG01106.hp1 HG01256.hp1 HG01928.hp1 others(9): Show |
intron_variant | MODIFIER | c.1085+4218_1085+422 others(8): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145604 | |||||
| chr7:50145604
|
G | GTGTATGT others(3): Show |
5 | a0002c0002t0001g0036a0002c0002t0001g0046a0002c0002t0001g0047others(2): Show | 5 | HG03654.hp2 HG04204.hp2 NA18963.hp1 others(2): Show |
intron_variant | MODIFIER | c.1085+4221_1085+422 others(14): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145604 | |||||
| chr7:50145606
|
G | A | 12 | a0001c0001t0001g0110a0002c0002t0001g0118a0002c0005t0001g0251others(9): Show | 12 | HG02257.hp1 HG02258.hp2 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.1085+4218G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145606 | ||||||
| chr7:50145606
|
G | GTATGTAT others(5): Show |
1 | a0002c0002t0001g0049 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.1085+4221_1085+422 others(16): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145606 | |||||
| chr7:50145606
|
G | GTATGTAT others(7): Show |
1 | a0002c0002t0001g0100 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.1085+4221_1085+422 others(18): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145606 | |||||
| chr7:50145606
|
G | GTATGTAT others(9): Show |
1 | a0002c0002t0001g0045 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.1085+4221_1085+422 others(20): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145606 | |||||
| chr7:50145606
|
GTATATGT others(9): Show |
G | 2 | a0002c0002t0001g0054a0002c0002t0001g0065 | 2 | HG02738.hp2 NA19011.hp2 |
intron_variant | MODIFIER | c.1085+4224_1085+423 others(20): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145606 | |||||
| chr7:50145606
|
GTATATGT others(29): Show |
G | 2 | a0002c0002t0001g0094a0002c0002t0001g0224 | 2 | HG03017.hp1 HG04184.hp1 |
intron_variant | MODIFIER | c.1085+4224_1085+425 others(40): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145606 | |||||
| chr7:50145608
|
A | ATG | 12 | a0002c0002t0001g0003a0002c0002t0001g0044a0002c0002t0001g0052others(9): Show | 13 | HG00423.hp1 HG01168.hp2 HG01257.hp2 others(10): Show |
intron_variant | MODIFIER | c.1085+4221_1085+422 others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145608 | |||||
| chr7:50145608
|
A | ATGTATAT others(1): Show |
14 | a0002c0002t0001g0004a0002c0002t0001g0024a0002c0002t0001g0035others(11): Show | 15 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(12): Show |
intron_variant | MODIFIER | c.1085+4221_1085+422 others(12): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145608 | |||||
| chr7:50145608
|
A | G | 2 | a0002c0002t0001g0060a0010c0014t0004g0210 | 2 | HG01993.hp2 HG03669.hp1 |
intron_variant | MODIFIER | c.1085+4220A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145608 | ||||||
| chr7:50145608
|
ATATGTGT others(1): Show |
A | 3 | a0004c0004t0001g0033a0004c0004t0001g0104a0004c0004t0001g0229 | 3 | HG02258.hp2 HG02486.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.1085+4222_1085+422 others(12): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145608 | |||||
| chr7:50145610
|
A | G | 19 | a0001c0001t0001g0146a0002c0002t0001g0005a0002c0002t0001g0038others(16): Show | 20 | HG00609.hp2 HG00741.hp2 HG01081.hp2 others(17): Show |
intron_variant | MODIFIER | c.1085+4222A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145610 | ||||||
| chr7:50145610
|
ATG | A | 6 | a0001c0001t0001g0029a0001c0001t0001g0144a0001c0001t0001g0147others(3): Show | 6 | HG01243.hp1 HG02280.hp1 NA18946.hp2 others(3): Show |
intron_variant | MODIFIER | c.1085+4230_1085+423 others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145610 | |||||
| chr7:50145610
|
ATGTG | A | 9 | a0001c0001t0001g0116a0001c0001t0001g0204a0001c0001t0001g0214others(6): Show | 10 | HG00735.hp1 HG01891.hp1 HG02723.hp2 others(7): Show |
intron_variant | MODIFIER | c.1085+4228_1085+423 others(8): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145610 | |||||
| chr7:50145612
|
G | A | 52 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(49): Show | 55 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(52): Show |
intron_variant | MODIFIER | c.1085+4224G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145612 | ||||||
| chr7:50145612
|
GTGTGTGT others(5): Show |
G | 3 | a0002c0005t0001g0260a0002c0005t0001g0261a0004c0004t0001g0239 | 3 | HG02559.hp1 HG02717.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.1085+4226_1085+423 others(16): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145612 | |||||
| chr7:50145612
|
GTGTGTGT others(13): Show |
G | 5 | a0002c0002t0003g0018a0002c0002t0003g0242a0002c0002t0003g0243others(2): Show | 5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.1085+4226_1085+424 others(24): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145612 | |||||
| chr7:50145614
|
G | A | 80 | a0001c0001t0001g0146a0002c0002t0001g0004a0002c0002t0001g0005others(77): Show | 82 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(79): Show |
intron_variant | MODIFIER | c.1085+4226G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145614 | ||||||
| chr7:50145614
|
G | GTA | 11 | a0001c0001t0001g0123a0001c0001t0001g0124a0001c0001t0001g0126others(8): Show | 12 | HG00733.hp1 HG01255.hp1 HG01928.hp2 others(9): Show |
intron_variant | MODIFIER | c.1085+4227_1085+422 others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145614 | |||||
| chr7:50145614
|
G | GTATA | 19 | a0001c0001t0001g0025a0001c0001t0001g0028a0001c0001t0001g0120others(16): Show | 21 | HG00099.hp2 HG00609.hp1 HG00738.hp2 others(18): Show |
intron_variant | MODIFIER | c.1085+4227_1085+422 others(8): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145614 | |||||
| chr7:50145614
|
G | GTATATA | 9 | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0160others(6): Show | 11 | HG01192.hp2 HG02165.hp1 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.1085+4227_1085+422 others(10): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145614 | |||||
| chr7:50145614
|
G | GTATATAT others(1): Show |
12 | a0001c0001t0001g0026a0001c0001t0001g0111a0001c0001t0001g0117others(9): Show | 12 | HG01081.hp1 HG01099.hp2 HG01433.hp1 others(9): Show |
intron_variant | MODIFIER | c.1085+4227_1085+422 others(12): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145614 | |||||
| chr7:50145614
|
G | GTATATAT others(3): Show |
10 | a0001c0001t0001g0112a0001c0001t0001g0114a0001c0001t0001g0134others(7): Show | 10 | HG00280.hp2 HG00639.hp2 HG01123.hp1 others(7): Show |
intron_variant | MODIFIER | c.1085+4227_1085+422 others(14): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145614 | |||||
| chr7:50145614
|
G | GTATATAT others(5): Show |
2 | a0001c0001t0001g0107a0001c0001t0001g0113 | 2 | HG00597.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1085+4227_1085+422 others(16): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145614 | |||||
| chr7:50145614
|
G | GTATATAT others(7): Show |
3 | a0001c0001t0001g0130a0001c0001t0001g0132a0001c0001t0001g0231 | 3 | HG02056.hp1 HG03688.hp1 NA18964.hp1 |
intron_variant | MODIFIER | c.1085+4227_1085+422 others(18): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145614 | |||||
| chr7:50145614
|
G | GTATATAT others(11): Show |
1 | a0003c0003t0001g0266 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.1085+4227_1085+422 others(22): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145614 | |||||
| chr7:50145614
|
G | GTATATAT others(15): Show |
1 | a0001c0001t0001g0202 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.1085+4227_1085+422 others(26): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145614 | |||||
| chr7:50145614
|
GTGTGTAT others(1): Show |
G | 3 | a0001c0001t0001g0105a0001c0001t0001g0200a0001c0001t0004g0106 | 3 | HG03041.hp2 HG03486.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.1085+4228_1085+423 others(12): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145614 | |||||
| chr7:50145614
|
GTGTGTAT others(9): Show |
G | 2 | a0001c0001t0001g0172a0001c0001t0001g0194 | 2 | HG02055.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.1085+4228_1085+424 others(20): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145614 | |||||
| chr7:50145614
|
GTGTGTAT others(11): Show |
G | 6 | a0001c0001t0001g0141a0001c0001t0001g0142a0001c0001t0001g0168others(3): Show | 6 | HG02015.hp2 HG03209.hp2 NA18747.hp1 others(3): Show |
intron_variant | MODIFIER | c.1085+4228_1085+424 others(22): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145614 | |||||
| chr7:50145614
|
GTGTGTAT others(15): Show |
G | 7 | a0001c0001t0001g0008a0001c0001t0001g0128a0001c0001t0001g0137others(4): Show | 8 | HG00741.hp1 HG01070.hp1 HG01074.hp2 others(5): Show |
intron_variant | MODIFIER | c.1085+4228_1085+424 others(26): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145614 | |||||
| chr7:50145614
|
GTGTGTAT others(17): Show |
G | 17 | a0001c0001t0001g0030a0001c0001t0001g0122a0001c0001t0001g0143others(14): Show | 17 | HG00423.hp2 HG02074.hp2 HG02080.hp2 others(14): Show |
intron_variant | MODIFIER | c.1085+4228_1085+425 others(28): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145614 | |||||
| chr7:50145616
|
G | A | 155 | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0025others(152): Show | 162 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(159): Show |
intron_variant | MODIFIER | c.1085+4228G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145616 | ||||||
| chr7:50145616
|
G | GTATATA | 8 | a0002c0002t0001g0005a0002c0002t0001g0038a0002c0002t0001g0062others(5): Show | 9 | HG00609.hp2 HG01433.hp2 HG01516.hp1 others(6): Show |
intron_variant | MODIFIER | c.1085+4229_1085+423 others(10): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145616 | |||||
| chr7:50145616
|
G | GTATATAT others(3): Show |
1 | a0003c0006t0001g0211 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1085+4229_1085+423 others(14): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145616 | |||||
| chr7:50145616
|
G | GTATATAT others(5): Show |
1 | a0001c0001t0001g0110 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1085+4229_1085+423 others(16): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145616 | |||||
| chr7:50145616
|
GTGTATAT others(9): Show |
G | 1 | a0010c0014t0004g0210 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.1085+4230_1085+424 others(20): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145616 | |||||
| chr7:50145618
|
G | A | 160 | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0025others(157): Show | 169 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(166): Show |
intron_variant | MODIFIER | c.1085+4230G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145618 | ||||||
| chr7:50145618
|
G | GTA | 13 | a0001c0001t0001g0115a0003c0003t0001g0013a0003c0003t0001g0014others(10): Show | 15 | HG00140.hp2 HG01070.hp2 HG01071.hp2 others(12): Show |
intron_variant | MODIFIER | c.1085+4271_1085+427 others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145618 | |||||
| chr7:50145618
|
G | GTATA | 9 | a0001c0001t0001g0212a0003c0003t0001g0017a0003c0003t0001g0249others(6): Show | 10 | HG00140.hp1 HG01074.hp1 HG01346.hp2 others(7): Show |
intron_variant | MODIFIER | c.1085+4269_1085+427 others(8): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145618 | |||||
| chr7:50145618
|
G | GTATATA | 7 | a0001c0001t0001g0218a0002c0005t0001g0253a0003c0003t0001g0019others(4): Show | 7 | HG00639.hp1 HG02922.hp1 HG03540.hp1 others(4): Show |
intron_variant | MODIFIER | c.1085+4267_1085+427 others(10): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145618 | |||||
| chr7:50145618
|
G | GTATATAT others(1): Show |
6 | a0001c0001t0001g0215a0001c0001t0001g0217a0001c0001t0001g0219others(3): Show | 6 | HG02148.hp2 HG02572.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.1085+4265_1085+427 others(12): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145618 | |||||
| chr7:50145618
|
G | GTATATAT others(3): Show |
2 | a0003c0003t0001g0002a0003c0003t0001g0022 | 3 | NA18947.hp1 NA18988.hp2 NA19012.hp1 |
intron_variant | MODIFIER | c.1085+4263_1085+427 others(14): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145618 | |||||
| chr7:50145618
|
G | GTATATAT others(5): Show |
2 | a0001c0001t0001g0290a0003c0003t0001g0021 | 2 | HG03130.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.1085+4261_1085+427 others(16): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145618 | |||||
| chr7:50145618
|
G | GTATATAT others(9): Show |
1 | a0001c0001t0001g0177 | 1 | NA18974.hp2 | intron_variant | MODIFIER | c.1085+4257_1085+427 others(20): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145618 | |||||
| chr7:50145618
|
G | GTATATAT others(11): Show |
1 | a0001c0001t0001g0216 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1085+4255_1085+427 others(22): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145618 | |||||
| chr7:50145618
|
G | GTGTATAT others(7): Show |
1 | a0001c0001t0001g0034 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1085+4231_1085+423 others(18): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145618 | |||||
| chr7:50145618
|
GTA | G | 16 | a0001c0001t0001g0119a0003c0003t0001g0012a0003c0003t0001g0284others(13): Show | 17 | HG00735.hp2 HG02723.hp1 HG03490.hp1 others(14): Show |
intron_variant | MODIFIER | c.1085+4271_1085+427 others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145618 | |||||
| chr7:50145618
|
GTATA | G | 5 | a0003c0003t0001g0015a0003c0003t0001g0247a0003c0003t0001g0283others(2): Show | 6 | HG00733.hp2 HG01168.hp1 HG01192.hp1 others(3): Show |
intron_variant | MODIFIER | c.1085+4269_1085+427 others(8): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145618 | |||||
| chr7:50145618
|
GTATATAT others(3): Show |
G | 2 | a0003c0003t0001g0074a0003c0006t0001g0303 | 2 | HG01106.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.1085+4263_1085+427 others(14): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145618 | |||||
| chr7:50145618
|
GTATATAT others(7): Show |
G | 1 | a0003c0003t0001g0289 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1085+4259_1085+427 others(18): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145618 | |||||
| chr7:50145620
|
A | ATG | 3 | a0004c0004t0001g0031a0004c0004t0001g0088a0004c0004t0001g0089 | 3 | HG02145.hp1 HG02451.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.1085+4233_1085+423 others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50145620 | |||||
| chr7:50145622
|
A | G | 9 | a0004c0004t0001g0010a0004c0004t0001g0032a0004c0004t0001g0083others(6): Show | 10 | HG01891.hp1 HG02080.hp1 HG02135.hp1 others(7): Show |
intron_variant | MODIFIER | c.1085+4234A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145622 | ||||||
| chr7:50145624
|
A | G | 13 | a0004c0004t0001g0033a0004c0004t0001g0041a0004c0004t0001g0066others(10): Show | 13 | HG02258.hp2 HG02486.hp1 HG02559.hp2 others(10): Show |
intron_variant | MODIFIER | c.1085+4236A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145624 | ||||||
| chr7:50145626
|
A | G | 5 | a0002c0002t0001g0054a0002c0002t0001g0065a0004c0004t0001g0010others(2): Show | 6 | HG01891.hp1 HG02738.hp2 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.1085+4238A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145626 | ||||||
| chr7:50145630
|
A | G | 3 | a0002c0005t0001g0260a0002c0005t0001g0261a0004c0004t0001g0239 | 3 | HG02559.hp1 HG02717.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.1085+4242A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145630 | ||||||
| chr7:50145632
|
A | G | 2 | a0002c0002t0001g0054a0002c0002t0001g0065 | 2 | HG02738.hp2 NA19011.hp2 |
intron_variant | MODIFIER | c.1085+4244A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145632 | ||||||
| chr7:50145634
|
A | G | 3 | a0002c0005t0001g0260a0002c0005t0001g0261a0004c0004t0001g0239 | 3 | HG02559.hp1 HG02717.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.1085+4246A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145634 | ||||||
| chr7:50145638
|
A | G | 5 | a0002c0002t0003g0018a0002c0002t0003g0242a0002c0002t0003g0243others(2): Show | 5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.1085+4250A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145638 | ||||||
| chr7:50145640
|
A | G | 5 | a0002c0002t0003g0018a0002c0002t0003g0242a0002c0002t0003g0243others(2): Show | 5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.1085+4252A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145640 | ||||||
| chr7:50145642
|
A | G | 5 | a0002c0002t0003g0018a0002c0002t0003g0242a0002c0002t0003g0243others(2): Show | 5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.1085+4254A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145642 | ||||||
| chr7:50145644
|
A | G | 5 | a0002c0002t0003g0018a0002c0002t0003g0242a0002c0002t0003g0243others(2): Show | 5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.1085+4256A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145644 | ||||||
| chr7:50145646
|
A | G | 2 | a0002c0002t0001g0094a0002c0002t0001g0224 | 2 | HG03017.hp1 HG04184.hp1 |
intron_variant | MODIFIER | c.1085+4258A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145646 | ||||||
| chr7:50145652
|
A | G | 2 | a0002c0002t0001g0094a0002c0002t0001g0224 | 2 | HG03017.hp1 HG04184.hp1 |
intron_variant | MODIFIER | c.1085+4264A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145652 | ||||||
| chr7:50145837
|
C | A | 3 | a0001c0001t0001g0147a0001c0001t0001g0186a0001c0001t0001g0187 | 3 | NA18946.hp2 NA18962.hp1 NA18963.hp2 |
intron_variant | MODIFIER | c.1085+4449C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145837 | ||||||
| chr7:50145895
|
A | C | 249 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(246): Show | 259 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(256): Show |
intron_variant | MODIFIER | c.1085+4507A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50145895 | ||||||
| chr7:50146047
|
C | T | 2 | a0001c0001t0001g0105a0001c0001t0004g0106 | 2 | HG03486.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.1085+4659C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50146047 | ||||||
| chr7:50146366
|
G | A | 1 | a0001c0001t0001g0140 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.1085+4978G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50146366 | ||||||
| chr7:50146610
|
T | C | 1 | a0003c0003t0001g0267 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.1086-4840T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50146610 | ||||||
| chr7:50146649
|
A | G | 2 | a0001c0001t0001g0028a0001c0001t0001g0192 | 2 | HG00609.hp1 NA18612.hp1 |
intron_variant | MODIFIER | c.1086-4801A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50146649 | ||||||
| chr7:50146746
|
T | C | 249 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(246): Show | 259 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(256): Show |
intron_variant | MODIFIER | c.1086-4704T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50146746 | ||||||
| chr7:50146782
|
G | A | 40 | a0002c0002t0001g0118a0002c0005t0001g0251a0002c0005t0001g0252others(37): Show | 41 | HG01891.hp1 HG01891.hp2 HG02080.hp1 others(38): Show |
intron_variant | MODIFIER | c.1086-4668G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50146782 | ||||||
| chr7:50146795
|
T | C | 1 | a0003c0003t0001g0274 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.1086-4655T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50146795 | ||||||
| chr7:50146903
|
C | A | 3 | a0001c0001t0001g0212a0001c0001t0001g0213a0001c0001t0001g0214 | 3 | HG01433.hp1 HG02809.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.1086-4547C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50146903 | ||||||
| chr7:50146931
|
G | T | 1 | a0001c0001t0001g0116 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.1086-4519G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50146931 | ||||||
| chr7:50146980
|
C | T | 1 | a0004c0004t0001g0033 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1086-4470C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50146980 | ||||||
| chr7:50147006
|
G | T | 1 | a0001c0001t0001g0240 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1086-4444G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50147006 | ||||||
| chr7:50147007
|
G | A | 1 | a0001c0001t0001g0160 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.1086-4443G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50147007 | ||||||
| chr7:50147036
|
T | G | 112 | a0001c0001t0001g0237a0002c0002t0001g0003a0002c0002t0001g0004others(109): Show | 116 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(113): Show |
intron_variant | MODIFIER | c.1086-4414T>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50147036 | ||||||
| chr7:50147058
|
T | A | 22 | a0001c0001t0001g0237a0004c0004t0001g0010a0004c0004t0001g0031others(19): Show | 23 | HG01891.hp1 HG02080.hp1 HG02135.hp1 others(20): Show |
intron_variant | MODIFIER | c.1086-4392T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50147058 | ||||||
| chr7:50147416
|
C | T | 136 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(133): Show | 142 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(139): Show |
intron_variant | MODIFIER | c.1086-4034C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50147416 | ||||||
| chr7:50147605
|
A | C | 1 | a0001c0001t0001g0230 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.1086-3845A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50147605 | ||||||
| chr7:50147697
|
C | T | 3 | a0002c0005t0001g0259a0002c0005t0001g0262a0002c0005t0001g0263 | 3 | HG01891.hp2 HG03516.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1086-3753C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50147697 | ||||||
| chr7:50147821
|
T | A | 111 | a0001c0001t0001g0237a0002c0002t0001g0003a0002c0002t0001g0004others(108): Show | 115 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(112): Show |
intron_variant | MODIFIER | c.1086-3629T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50147821 | ||||||
| chr7:50147908
|
G | A | 64 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(61): Show | 67 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(64): Show |
intron_variant | MODIFIER | c.1086-3542G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50147908 | ||||||
| chr7:50147916
|
G | A | 1 | a0002c0002t0001g0075 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.1086-3534G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50147916 | ||||||
| chr7:50147924
|
A | G | 1 | a0001c0001t0001g0180 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.1086-3526A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50147924 | ||||||
| chr7:50148219
|
A | G | 249 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(246): Show | 259 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(256): Show |
intron_variant | MODIFIER | c.1086-3231A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50148219 | ||||||
| chr7:50148270
|
A | C | 249 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(246): Show | 259 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(256): Show |
intron_variant | MODIFIER | c.1086-3180A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50148270 | ||||||
| chr7:50148275
|
C | T | 249 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(246): Show | 259 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(256): Show |
intron_variant | MODIFIER | c.1086-3175C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50148275 | ||||||
| chr7:50148380
|
G | A | 1 | a0001c0001t0001g0206 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1086-3070G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50148380 | ||||||
| chr7:50148600
|
C | T | 2 | a0001c0001t0001g0113a0001c0001t0001g0227 | 2 | HG01884.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.1086-2850C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50148600 | ||||||
| chr7:50148687
|
A | G | 137 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(134): Show | 143 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(140): Show |
intron_variant | MODIFIER | c.1086-2763A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50148687 | ||||||
| chr7:50148789
|
G | A | 3 | a0004c0004t0001g0031a0004c0004t0001g0088a0004c0004t0001g0089 | 3 | HG02145.hp1 HG02451.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.1086-2661G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50148789 | ||||||
| chr7:50148821
|
G | A | 1 | a0003c0003t0001g0268 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1086-2629G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50148821 | ||||||
| chr7:50148829
|
T | C | 249 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(246): Show | 259 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(256): Show |
intron_variant | MODIFIER | c.1086-2621T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50148829 | ||||||
| chr7:50148912
|
C | T | 1 | a0001c0001t0001g0121 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1086-2538C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50148912 | ||||||
| chr7:50148931
|
G | A | 19 | a0001c0001t0001g0237a0004c0004t0001g0010a0004c0004t0001g0031others(16): Show | 20 | HG01891.hp1 HG02145.hp1 HG02451.hp2 others(17): Show |
intron_variant | MODIFIER | c.1086-2519G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50148931 | ||||||
| chr7:50149050
|
C | G | 64 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(61): Show | 67 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(64): Show |
intron_variant | MODIFIER | c.1086-2400C>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50149050 | ||||||
| chr7:50149143
|
TA | T | 70 | a0001c0001t0001g0029a0001c0001t0001g0105a0001c0001t0001g0200others(67): Show | 72 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(69): Show |
intron_variant | MODIFIER | c.1086-2293delA | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50149143 | |||||
| chr7:50149143
|
TAA | T | 172 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0025others(169): Show | 179 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(176): Show |
intron_variant | MODIFIER | c.1086-2294_1086-229 others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50149143 | |||||
| chr7:50149177
|
C | T | 1 | a0001c0001t0001g0240 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1086-2273C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50149177 | ||||||
| chr7:50149238
|
C | T | 64 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(61): Show | 67 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(64): Show |
intron_variant | MODIFIER | c.1086-2212C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50149238 | ||||||
| chr7:50149280
|
TC | T | 64 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(61): Show | 67 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(64): Show |
intron_variant | MODIFIER | c.1086-2166delC | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | 50149280 | |||||
| chr7:50149338
|
C | A | 136 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(133): Show | 142 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(139): Show |
intron_variant | MODIFIER | c.1086-2112C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50149338 | ||||||
| chr7:50149408
|
C | T | 1 | a0003c0003t0001g0294 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1086-2042C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50149408 | ||||||
| chr7:50149559
|
C | T | 1 | a0010c0014t0004g0210 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.1086-1891C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50149559 | ||||||
| chr7:50149587
|
G | A | 1 | a0001c0001t0001g0163 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.1086-1863G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50149587 | ||||||
| chr7:50149591
|
C | T | 6 | a0001c0001t0001g0105a0001c0001t0001g0212a0001c0001t0001g0213others(3): Show | 6 | HG01433.hp1 HG02809.hp1 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.1086-1859C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50149591 | ||||||
| chr7:50149862
|
G | A | 1 | a0003c0003t0001g0284 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.1086-1588G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50149862 | ||||||
| chr7:50149960
|
A | G | 1 | a0001c0001t0001g0034 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1086-1490A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50149960 | ||||||
| chr7:50149964
|
C | T | 1 | a0004c0004t0001g0239 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1086-1486C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50149964 | ||||||
| chr7:50150001
|
A | T | 249 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(246): Show | 259 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(256): Show |
intron_variant | MODIFIER | c.1086-1449A>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50150001 | ||||||
| chr7:50150153
|
G | T | 249 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(246): Show | 259 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(256): Show |
intron_variant | MODIFIER | c.1086-1297G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50150153 | ||||||
| chr7:50150167
|
G | A | 8 | a0002c0002t0001g0118a0002c0005t0001g0306a0002c0005t0001g0310others(5): Show | 8 | HG02080.hp1 HG02135.hp1 HG02165.hp2 others(5): Show |
intron_variant | MODIFIER | c.1086-1283G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50150167 | ||||||
| chr7:50150176
|
G | T | 4 | a0001c0001t0001g0007a0001c0001t0001g0165a0001c0001t0001g0166others(1): Show | 5 | HG02257.hp2 HG02258.hp1 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.1086-1274G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50150176 | ||||||
| chr7:50150515
|
C | A | 1 | a0001c0001t0001g0108 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1086-935C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50150515 | ||||||
| chr7:50150743
|
C | T | 1 | a0004c0004t0001g0089 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1086-707C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | chr7 | 50150743 | ||||||
| chr7:50151620
|
G | T | 131 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(128): Show | 137 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(134): Show |
intron_variant | MODIFIER | c.1193+63G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50151620 | ||||||
| chr7:50151692
|
G | A | 1 | a0004c0004t0001g0084 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1193+135G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50151692 | ||||||
| chr7:50151698
|
GA | G | 131 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(128): Show | 137 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(134): Show |
intron_variant | MODIFIER | c.1193+148delA | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr7 | 50151698 | |||||
| chr7:50151757
|
T | C | 121 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(118): Show | 127 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(124): Show |
intron_variant | MODIFIER | c.1193+200T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50151757 | ||||||
| chr7:50151817
|
C | T | 131 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(128): Show | 137 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(134): Show |
intron_variant | MODIFIER | c.1193+260C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50151817 | ||||||
| chr7:50151924
|
T | C | 242 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(239): Show | 252 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(249): Show |
intron_variant | MODIFIER | c.1193+367T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50151924 | ||||||
| chr7:50151941
|
G | T | 1 | a0003c0003t0001g0274 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.1193+384G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50151941 | ||||||
| chr7:50152035
|
C | A | 1 | a0003c0006t0001g0131 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1193+478C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50152035 | ||||||
| chr7:50152085
|
T | C | 136 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(133): Show | 143 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(140): Show |
intron_variant | MODIFIER | c.1193+528T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50152085 | ||||||
| chr7:50152100
|
C | T | 8 | a0001c0001t0001g0108a0001c0001t0001g0111a0001c0001t0001g0112others(5): Show | 8 | HG01884.hp1 HG01884.hp2 HG02451.hp1 others(5): Show |
intron_variant | MODIFIER | c.1193+543C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50152100 | ||||||
| chr7:50152269
|
C | T | 5 | a0001c0001t0001g0105a0001c0001t0001g0212a0001c0001t0001g0213others(2): Show | 5 | HG01433.hp1 HG02809.hp1 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.1193+712C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50152269 | ||||||
| chr7:50152471
|
A | G | 3 | a0002c0002t0001g0004a0002c0002t0001g0062a0002c0002t0001g0064 | 4 | HG00642.hp2 HG01175.hp2 HG01243.hp2 others(1): Show |
intron_variant | MODIFIER | c.1193+914A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50152471 | ||||||
| chr7:50152591
|
C | G | 130 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(127): Show | 136 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(133): Show |
intron_variant | MODIFIER | c.1193+1034C>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50152591 | ||||||
| chr7:50152627
|
C | T | 130 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(127): Show | 136 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(133): Show |
intron_variant | MODIFIER | c.1193+1070C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50152627 | ||||||
| chr7:50152664
|
T | TATTTATT others(6): Show |
1 | a0001c0001t0001g0177 | 1 | NA18974.hp2 | intron_variant | MODIFIER | c.1193+1107_1193+110 others(17): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50152664 | ||||||
| chr7:50152664
|
T | TTTTA | 99 | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0029others(96): Show | 103 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(100): Show |
intron_variant | MODIFIER | c.1193+1148_1193+115 others(8): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr7 | 50152664 | |||||
| chr7:50152664
|
T | TTTTATTT others(1): Show |
57 | a0001c0001t0001g0008a0001c0001t0001g0028a0001c0001t0001g0030others(54): Show | 62 | HG00099.hp2 HG00423.hp2 HG00597.hp2 others(59): Show |
intron_variant | MODIFIER | c.1193+1144_1193+115 others(12): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr7 | 50152664 | |||||
| chr7:50152664
|
T | TTTTATTT others(5): Show |
10 | a0001c0001t0001g0027a0001c0001t0001g0117a0001c0001t0001g0140others(7): Show | 10 | HG01081.hp2 HG01123.hp2 HG01993.hp2 others(7): Show |
intron_variant | MODIFIER | c.1193+1140_1193+115 others(16): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr7 | 50152664 | |||||
| chr7:50152664
|
T | TTTTATTT others(9): Show |
1 | a0001c0001t0001g0198 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.1193+1136_1193+115 others(20): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr7 | 50152664 | |||||
| chr7:50152664
|
TTTTA | T | 9 | a0001c0001t0001g0007a0001c0001t0001g0108a0001c0001t0001g0111others(6): Show | 10 | HG01884.hp2 HG02145.hp2 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.1193+1148_1193+115 others(8): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr7 | 50152664 | |||||
| chr7:50152664
|
TTTTATTT others(1): Show |
T | 6 | a0001c0001t0001g0165a0001c0001t0001g0166a0001c0001t0001g0167others(3): Show | 6 | HG02257.hp2 HG02258.hp1 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.1193+1144_1193+115 others(12): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr7 | 50152664 | |||||
| chr7:50152664
|
TTTTATTT others(9): Show |
T | 8 | a0002c0002t0001g0118a0002c0005t0001g0306a0002c0005t0001g0310others(5): Show | 8 | HG02080.hp1 HG02135.hp1 HG02165.hp2 others(5): Show |
intron_variant | MODIFIER | c.1193+1136_1193+115 others(20): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr7 | 50152664 | |||||
| chr7:50152722
|
T | C | 1 | a0002c0002t0001g0039 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.1193+1165T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50152722 | ||||||
| chr7:50152878
|
G | A | 1 | a0001c0001t0002g0153 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.1193+1321G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50152878 | ||||||
| chr7:50152936
|
C | G | 130 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(127): Show | 136 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(133): Show |
intron_variant | MODIFIER | c.1193+1379C>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50152936 | ||||||
| chr7:50152977
|
G | T | 1 | a0003c0003t0001g0014 | 2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.1193+1420G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50152977 | ||||||
| chr7:50152996
|
A | T | 130 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(127): Show | 136 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(133): Show |
intron_variant | MODIFIER | c.1193+1439A>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50152996 | ||||||
| chr7:50153024
|
C | T | 130 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(127): Show | 136 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(133): Show |
intron_variant | MODIFIER | c.1193+1467C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50153024 | ||||||
| chr7:50153096
|
C | T | 15 | a0001c0001t0001g0237a0004c0004t0001g0031a0004c0004t0001g0041others(12): Show | 15 | HG02145.hp1 HG02451.hp2 HG02723.hp1 others(12): Show |
intron_variant | MODIFIER | c.1193+1539C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50153096 | ||||||
| chr7:50153417
|
G | A | 3 | a0002c0002t0003g0242a0002c0002t0003g0243a0002c0002t0003g0245 | 3 | HG02630.hp1 HG02886.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.1193+1860G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50153417 | ||||||
| chr7:50153452
|
G | A | 2 | a0001c0001t0001g0133a0001c0001t0001g0134 | 2 | HG01099.hp2 HG01123.hp1 |
intron_variant | MODIFIER | c.1193+1895G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50153452 | ||||||
| chr7:50153506
|
T | G | 242 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(239): Show | 252 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(249): Show |
intron_variant | MODIFIER | c.1193+1949T>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50153506 | ||||||
| chr7:50153609
|
G | C | 130 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(127): Show | 136 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(133): Show |
intron_variant | MODIFIER | c.1193+2052G>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50153609 | ||||||
| chr7:50153610
|
G | A | 1 | a0002c0002t0001g0048 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.1193+2053G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50153610 | ||||||
| chr7:50153647
|
A | C | 242 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(239): Show | 252 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(249): Show |
intron_variant | MODIFIER | c.1193+2090A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50153647 | ||||||
| chr7:50153841
|
G | T | 1 | a0010c0014t0004g0210 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.1193+2284G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50153841 | ||||||
| chr7:50153903
|
C | G | 135 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(132): Show | 142 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(139): Show |
intron_variant | MODIFIER | c.1193+2346C>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50153903 | ||||||
| chr7:50154094
|
G | T | 1 | a0001c0001t0001g0189 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.1193+2537G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50154094 | ||||||
| chr7:50154100
|
A | G | 4 | a0004c0004t0001g0032a0004c0004t0001g0033a0004c0004t0001g0104others(1): Show | 4 | HG02257.hp1 HG02258.hp2 HG02486.hp1 others(1): Show |
intron_variant | MODIFIER | c.1193+2543A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50154100 | ||||||
| chr7:50154156
|
C | T | 1 | a0001c0001t0001g0115 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.1193+2599C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50154156 | ||||||
| chr7:50154205
|
G | A | 4 | a0001c0001t0001g0123a0001c0001t0001g0124a0001c0001t0001g0125others(1): Show | 4 | HG02015.hp1 NA18944.hp2 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.1193+2648G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50154205 | ||||||
| chr7:50154211
|
G | A | 5 | a0001c0001t0001g0105a0001c0001t0001g0212a0001c0001t0001g0213others(2): Show | 5 | HG01433.hp1 HG02809.hp1 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.1193+2654G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50154211 | ||||||
| chr7:50154388
|
C | T | 1 | a0001c0001t0001g0200 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1193+2831C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50154388 | ||||||
| chr7:50154406
|
C | T | 1 | a0001c0001t0001g0181 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.1193+2849C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50154406 | ||||||
| chr7:50154445
|
G | A | 130 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(127): Show | 136 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(133): Show |
intron_variant | MODIFIER | c.1193+2888G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50154445 | ||||||
| chr7:50154467
|
G | T | 135 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(132): Show | 142 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(139): Show |
intron_variant | MODIFIER | c.1193+2910G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50154467 | ||||||
| chr7:50154495
|
G | C | 4 | a0004c0004t0001g0010a0004c0004t0001g0221a0004c0004t0001g0223others(1): Show | 5 | HG01891.hp1 HG03225.hp1 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.1193+2938G>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50154495 | ||||||
| chr7:50154507
|
T | C | 1 | a0003c0003t0001g0281 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1193+2950T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50154507 | ||||||
| chr7:50154651
|
G | T | 1 | a0002c0002t0001g0093 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.1193+3094G>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50154651 | ||||||
| chr7:50154725
|
T | C | 5 | a0004c0004t0001g0010a0004c0004t0001g0221a0004c0004t0001g0223others(2): Show | 6 | HG01891.hp1 HG01993.hp2 HG03225.hp1 others(3): Show |
intron_variant | MODIFIER | c.1193+3168T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50154725 | ||||||
| chr7:50154807
|
A | G | 1 | a0001c0001t0001g0029 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1193+3250A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50154807 | ||||||
| chr7:50154819
|
C | T | 3 | a0001c0001t0001g0212a0001c0001t0001g0213a0001c0001t0001g0214 | 3 | HG01433.hp1 HG02809.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.1193+3262C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50154819 | ||||||
| chr7:50154931
|
C | T | 9 | a0002c0005t0001g0251a0002c0005t0001g0252a0002c0005t0001g0253others(6): Show | 9 | HG01891.hp2 HG02622.hp2 HG02922.hp1 others(6): Show |
intron_variant | MODIFIER | c.1193+3374C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50154931 | ||||||
| chr7:50155168
|
C | T | 1 | a0003c0003t0001g0287 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.1193+3611C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50155168 | ||||||
| chr7:50155169
|
G | A | 1 | a0004c0004t0001g0041 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1193+3612G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50155169 | ||||||
| chr7:50155222
|
T | C | 1 | a0002c0002t0001g0075 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.1193+3665T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50155222 | ||||||
| chr7:50155282
|
C | T | 100 | a0001c0001t0001g0029a0001c0001t0001g0034a0001c0001t0001g0105others(97): Show | 104 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(101): Show |
intron_variant | MODIFIER | c.1193+3725C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50155282 | ||||||
| chr7:50155324
|
T | C | 65 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(62): Show | 68 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(65): Show |
intron_variant | MODIFIER | c.1194-3722T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50155324 | ||||||
| chr7:50155339
|
G | A | 1 | a0004c0004t0001g0223 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1194-3707G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50155339 | ||||||
| chr7:50155402
|
C | T | 100 | a0001c0001t0001g0029a0001c0001t0001g0034a0001c0001t0001g0105others(97): Show | 104 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(101): Show |
intron_variant | MODIFIER | c.1194-3644C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50155402 | ||||||
| chr7:50155425
|
A | G | 1 | a0001c0001t0001g0034 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1194-3621A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50155425 | ||||||
| chr7:50155450
|
G | A | 1 | a0001c0001t0001g0114 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1194-3596G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50155450 | ||||||
| chr7:50155477
|
A | G | 1 | a0001c0001t0001g0115 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.1194-3569A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50155477 | ||||||
| chr7:50155628
|
T | C | 1 | a0001c0001t0001g0207 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1194-3418T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50155628 | ||||||
| chr7:50155677
|
T | C | 5 | a0002c0002t0003g0242a0002c0002t0003g0243a0002c0002t0003g0244others(2): Show | 5 | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.1194-3369T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50155677 | ||||||
| chr7:50155747
|
G | A | 69 | a0001c0001t0001g0119a0001c0001t0001g0125a0001c0001t0002g0001others(66): Show | 73 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(70): Show |
intron_variant | MODIFIER | c.1194-3299G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50155747 | ||||||
| chr7:50155770
|
TG | T | 24 | a0001c0001t0001g0228a0001c0001t0001g0237a0002c0002t0001g0060others(21): Show | 24 | HG02080.hp1 HG02135.hp1 HG02145.hp1 others(21): Show |
intron_variant | MODIFIER | c.1194-3271delG | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr7 | 50155770 | |||||
| chr7:50155772
|
G | A | 2 | a0003c0003t0001g0272a0003c0003t0001g0278 | 2 | HG03239.hp2 HG03704.hp1 |
intron_variant | MODIFIER | c.1194-3274G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50155772 | ||||||
| chr7:50155815
|
G | GGCTGTCA others(37): Show |
289 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(286): Show | 306 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(303): Show |
intron_variant | MODIFIER | c.1194-3227_1194-318 others(48): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr7 | 50155815 | |||||
| chr7:50155815
|
G | GGCTGTCA others(81): Show |
10 | a0001c0001t0001g0120a0001c0001t0001g0133a0001c0001t0001g0139others(7): Show | 11 | HG01099.hp2 HG01928.hp2 HG02698.hp1 others(8): Show |
intron_variant | MODIFIER | c.1194-3184_1194-318 others(92): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr7 | 50155815 | |||||
| chr7:50155815
|
G | GGCTGTCA others(125): Show |
4 | a0001c0001t0001g0113a0001c0001t0001g0121a0002c0002t0001g0039others(1): Show | 4 | HG00099.hp1 HG01496.hp1 HG02056.hp2 others(1): Show |
intron_variant | MODIFIER | c.1194-3184_1194-318 others(136): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr7 | 50155815 | |||||
| chr7:50155832
|
C | CTCACTAT others(37): Show |
1 | a0004c0004t0001g0069 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.1194-3184_1194-318 others(48): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr7 | 50155832 | |||||
| chr7:50155863
|
C | G | 291 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(288): Show | 308 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(305): Show |
intron_variant | MODIFIER | c.1194-3183C>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50155863 | ||||||
| chr7:50156090
|
C | T | 1 | a0004c0004t0001g0239 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1194-2956C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50156090 | ||||||
| chr7:50156299
|
AT | A | 10 | a0001c0001t0001g0034a0001c0001t0001g0111a0001c0001t0001g0112others(7): Show | 10 | HG01884.hp2 HG02055.hp1 HG02055.hp2 others(7): Show |
intron_variant | MODIFIER | c.1194-2746delT | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50156299 | ||||||
| chr7:50156303
|
GT | G | 10 | a0001c0001t0001g0034a0001c0001t0001g0111a0001c0001t0001g0112others(7): Show | 10 | HG01884.hp2 HG02055.hp1 HG02055.hp2 others(7): Show |
intron_variant | MODIFIER | c.1194-2742delT | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50156303 | ||||||
| chr7:50156305
|
G | A | 10 | a0001c0001t0001g0034a0001c0001t0001g0111a0001c0001t0001g0112others(7): Show | 10 | HG01884.hp2 HG02055.hp1 HG02055.hp2 others(7): Show |
intron_variant | MODIFIER | c.1194-2741G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50156305 | ||||||
| chr7:50156307
|
C | A | 10 | a0001c0001t0001g0034a0001c0001t0001g0111a0001c0001t0001g0112others(7): Show | 10 | HG01884.hp2 HG02055.hp1 HG02055.hp2 others(7): Show |
intron_variant | MODIFIER | c.1194-2739C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50156307 | ||||||
| chr7:50156308
|
A | G | 10 | a0001c0001t0001g0034a0001c0001t0001g0111a0001c0001t0001g0112others(7): Show | 10 | HG01884.hp2 HG02055.hp1 HG02055.hp2 others(7): Show |
intron_variant | MODIFIER | c.1194-2738A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50156308 | ||||||
| chr7:50156388
|
A | G | 288 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(285): Show | 305 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(302): Show |
intron_variant | MODIFIER | c.1194-2658A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50156388 | ||||||
| chr7:50156429
|
C | T | 7 | a0001c0001t0001g0207a0002c0002t0003g0244a0004c0004t0001g0032others(4): Show | 7 | HG01993.hp2 HG02257.hp1 HG02258.hp2 others(4): Show |
intron_variant | MODIFIER | c.1194-2617C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50156429 | ||||||
| chr7:50156514
|
C | T | 4 | a0002c0002t0003g0242a0002c0002t0003g0243a0002c0002t0003g0245others(1): Show | 4 | HG02630.hp1 HG02886.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.1194-2532C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50156514 | ||||||
| chr7:50156541
|
A | C | 7 | a0001c0001t0001g0207a0002c0002t0003g0244a0004c0004t0001g0032others(4): Show | 7 | HG01993.hp2 HG02257.hp1 HG02258.hp2 others(4): Show |
intron_variant | MODIFIER | c.1194-2505A>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50156541 | ||||||
| chr7:50156541
|
A | T | 298 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(295): Show | 315 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(312): Show |
intron_variant | MODIFIER | c.1194-2505A>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50156541 | ||||||
| chr7:50156640
|
T | C | 7 | a0001c0001t0001g0207a0002c0002t0003g0244a0004c0004t0001g0032others(4): Show | 7 | HG01993.hp2 HG02257.hp1 HG02258.hp2 others(4): Show |
intron_variant | MODIFIER | c.1194-2406T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50156640 | ||||||
| chr7:50156704
|
T | C | 1 | a0001c0001t0001g0138 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1194-2342T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50156704 | ||||||
| chr7:50156890
|
T | A | 1 | a0001c0001t0001g0209 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1194-2156T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50156890 | ||||||
| chr7:50157316
|
T | G | 7 | a0001c0001t0001g0207a0002c0002t0003g0244a0004c0004t0001g0032others(4): Show | 7 | HG01993.hp2 HG02257.hp1 HG02258.hp2 others(4): Show |
intron_variant | MODIFIER | c.1194-1730T>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50157316 | ||||||
| chr7:50157743
|
T | C | 1 | a0008c0013t0001g0109 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1194-1303T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50157743 | ||||||
| chr7:50157796
|
C | T | 305 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(302): Show | 322 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(319): Show |
intron_variant | MODIFIER | c.1194-1250C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50157796 | ||||||
| chr7:50157810
|
T | C | 226 | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0025others(223): Show | 233 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(230): Show |
intron_variant | MODIFIER | c.1194-1236T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50157810 | ||||||
| chr7:50157899
|
T | A | 1 | a0005c0008t0001g0208 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.1194-1147T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50157899 | ||||||
| chr7:50157899
|
T | TA | 92 | a0001c0001t0001g0025a0001c0001t0001g0027a0001c0001t0001g0028others(89): Show | 94 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(91): Show |
intron_variant | MODIFIER | c.1194-1147_1194-114 others(5): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50157899 | ||||||
| chr7:50157900
|
T | A | 93 | a0001c0001t0001g0025a0001c0001t0001g0027a0001c0001t0001g0028others(90): Show | 95 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(92): Show |
intron_variant | MODIFIER | c.1194-1146T>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50157900 | ||||||
| chr7:50157900
|
T | TA | 115 | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0034others(112): Show | 120 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(117): Show |
intron_variant | MODIFIER | c.1194-1138dupA | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr7 | 50157900 | |||||
| chr7:50157900
|
T | TTA | 17 | a0001c0001t0001g0120a0001c0001t0001g0207a0001c0001t0004g0106others(14): Show | 17 | HG02080.hp1 HG02135.hp1 HG02165.hp2 others(14): Show |
intron_variant | MODIFIER | c.1194-1146_1194-114 others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50157900 | ||||||
| chr7:50157978
|
T | G | 1 | a0001c0001t0001g0133 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.1194-1068T>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50157978 | ||||||
| chr7:50158025
|
C | G | 4 | a0004c0004t0001g0031a0004c0004t0001g0088a0004c0004t0001g0089others(1): Show | 4 | HG02145.hp1 HG02451.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.1194-1021C>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50158025 | ||||||
| chr7:50158039
|
A | G | 4 | a0002c0002t0003g0242a0002c0002t0003g0243a0002c0002t0003g0245others(1): Show | 4 | HG02630.hp1 HG02886.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.1194-1007A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50158039 | ||||||
| chr7:50158139
|
C | A | 12 | a0001c0001t0001g0120a0001c0001t0004g0106a0002c0002t0001g0118others(9): Show | 12 | HG01993.hp2 HG02080.hp1 HG02135.hp1 others(9): Show |
intron_variant | MODIFIER | c.1194-907C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50158139 | ||||||
| chr7:50158144
|
GGGTGAGG others(36): Show |
G | 1 | a0003c0003t0001g0292 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.1194-884_1194-842d others(45): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr7 | 50158144 | |||||
| chr7:50158161
|
C | T | 8 | a0003c0003t0001g0013a0003c0003t0001g0014a0003c0003t0001g0017others(5): Show | 11 | HG01070.hp2 HG01071.hp2 HG01074.hp1 others(8): Show |
intron_variant | MODIFIER | c.1194-885C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50158161 | ||||||
| chr7:50158163
|
C | A | 1 | a0001c0001t0001g0025 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.1194-883C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50158163 | ||||||
| chr7:50158182
|
C | A | 1 | a0001c0001t0001g0146 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.1194-864C>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50158182 | ||||||
| chr7:50158310
|
C | T | 93 | a0001c0001t0001g0025a0001c0001t0001g0027a0001c0001t0001g0028others(90): Show | 95 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(92): Show |
intron_variant | MODIFIER | c.1194-736C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50158310 | ||||||
| chr7:50158359
|
A | G | 305 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(302): Show | 322 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(319): Show |
intron_variant | MODIFIER | c.1194-687A>G | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50158359 | ||||||
| chr7:50158361
|
G | A | 1 | a0010c0014t0004g0210 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.1194-685G>A | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50158361 | ||||||
| chr7:50158402
|
G | C | 283 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(280): Show | 300 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(297): Show |
intron_variant | MODIFIER | c.1194-644G>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50158402 | ||||||
| chr7:50158458
|
G | C | 283 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(280): Show | 300 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(297): Show |
intron_variant | MODIFIER | c.1194-588G>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50158458 | ||||||
| chr7:50158762
|
C | T | 1 | a0001c0001t0001g0119 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.1194-284C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50158762 | ||||||
| chr7:50158797
|
C | T | 90 | a0001c0001t0001g0025a0001c0001t0001g0027a0001c0001t0001g0028others(87): Show | 92 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(89): Show |
intron_variant | MODIFIER | c.1194-249C>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50158797 | ||||||
| chr7:50158969
|
A | T | 1 | a0002c0002t0001g0037 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1194-77A>T | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50158969 | ||||||
| chr7:50159030
|
T | C | 305 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(302): Show | 322 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(319): Show |
intron_variant | MODIFIER | c.1194-16T>C | SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | 50159030 |