| geneid | 6261 |
|---|---|
| ensemblid | ENSG00000196218.14 |
| hgncid | 10483 |
| symbol | RYR1 |
| name | ryanodine receptor 1 |
| refseq_nuc | NM_000540.3 |
| refseq_prot | NP_000531.2 |
| ensembl_nuc | ENST00000359596.8 |
| ensembl_prot | ENSP00000352608.2 |
| mane_status | MANE Select |
| chr | chr19 |
| start | 38433691 |
| end | 38587564 |
| strand | + |
| ver | v1.2 |
| region | chr19:38433691-38587564 |
| region5000 | chr19:38428691-38592564 |
| regionname0 | RYR1_chr19_38433691_38587564 |
| regionname5000 | RYR1_chr19_38428691_38592564 |
| ahapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 5038 | 146 | 35 | 39 | 53 | 1 | 16 | 32 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0002 | 0/0 | 5038 | 12 | 0 | 2 | 1 | 1 | 8 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0003 | 0/0 | 5038 | 11 | 0 | 4 | 6 | 0 | 1 | 3 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0004 | 0/0 | 5038 | 7 | 6 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0005 | 0/0 | 5038 | 4 | 0 | 1 | 0 | 0 | 3 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0006 | 0/0 | 5038 | 4 | 4 | 0 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0007 | 0/0 | 5038 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0008 | 0/0 | 5038 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0009 | 0/0 | 5038 | 2 | 0 | 1 | 1 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0010 | 0/0 | 5037 | 2 | 0 | 0 | 0 | 0 | 2 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0011 | 0/0 | 5038 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0012 | 0/0 | 816 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0013 | 0/0 | 5038 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0014 | 0/0 | 5038 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0015 | 0/0 | 5038 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0016 | 0/0 | 5038 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0017 | 0/0 | 5038 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0018 | 0/0 | 5038 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0019 | 0/0 | 5038 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0020 | 0/0 | 5038 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0021 | 0/0 | 5038 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0022 | 0/0 | 5038 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0023 | 0/0 | 5038 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0024 | 0/0 | 5038 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0025 | 0/0 | 5038 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0026 | 0/0 | 5038 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0027 | 0/0 | 5038 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0028 | 0/0 | 5038 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0029 | 0/0 | 5038 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0030 | 0/0 | 5038 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0031 | 0/0 | 5038 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0032 | 0/0 | 5038 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0033 | 0/0 | 5038 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0034 | 0/0 | 5038 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| 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 | 15117 | 34 | 8 | 13 | 5 | 1 | 6 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0002 | 0/0 | 15117 | 12 | 0 | 0 | 12 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0003 | 0/0 | 15117 | 6 | 2 | 2 | 2 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0004 | 0/0 | 15117 | 5 | 2 | 1 | 2 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0005 | 0/0 | 15117 | 5 | 2 | 3 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0006 | 0/0 | 15117 | 5 | 0 | 2 | 3 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0007 | 0/0 | 15117 | 4 | 4 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0008 | 0/0 | 15117 | 4 | 0 | 0 | 1 | 1 | 2 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0009 | 0/0 | 15117 | 3 | 0 | 0 | 0 | 0 | 3 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0010 | 0/0 | 15117 | 3 | 3 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0011 | 0/0 | 15117 | 3 | 3 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0012 | 0/0 | 15117 | 3 | 0 | 1 | 0 | 0 | 2 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0013 | 0/0 | 15117 | 3 | 0 | 0 | 3 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0014 | 0/0 | 15117 | 3 | 3 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0015 | 0/0 | 15117 | 3 | 3 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0016 | 0/0 | 15117 | 2 | 0 | 0 | 0 | 0 | 2 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0017 | 0/0 | 15117 | 2 | 0 | 0 | 2 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0018 | 0/0 | 15117 | 2 | 0 | 2 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0019 | 0/0 | 15117 | 2 | 0 | 0 | 1 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0020 | 0/0 | 15117 | 2 | 2 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0021 | 0/0 | 15114 | 2 | 0 | 0 | 0 | 0 | 2 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0022 | 0/0 | 15117 | 2 | 0 | 0 | 2 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0023 | 0/0 | 15117 | 2 | 0 | 0 | 1 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0024 | 1/0 | 15117 | 2 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0025 | 0/0 | 15117 | 2 | 0 | 0 | 0 | 0 | 2 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0026 | 0/0 | 15117 | 2 | 0 | 2 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0027 | 0/0 | 15117 | 2 | 0 | 2 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0028 | 0/0 | 15117 | 2 | 0 | 0 | 2 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0029 | 0/0 | 15117 | 2 | 0 | 0 | 2 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0030 | 0/0 | 15117 | 2 | 0 | 0 | 2 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0031 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0032 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0033 | 0/0 | 15117 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0034 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0035 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0036 | 0/0 | 15117 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0037 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0038 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0039 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0040 | 0/0 | 15117 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0041 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0042 | 0/0 | 15117 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0043 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0044 | 0/0 | 15117 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0045 | 0/0 | 15117 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0046 | 0/0 | 15117 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0047 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0048 | 0/0 | 15117 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0049 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0050 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0051 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0052 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0053 | 0/0 | 15117 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0054 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0055 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0056 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0057 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0058 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0059 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0060 | 0/0 | 15117 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0061 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0062 | 0/0 | 15117 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0063 | 0/0 | 15117 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0064 | 0/0 | 15117 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0065 | 0/0 | 15117 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0066 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0067 | 0/0 | 15117 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0068 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0069 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0070 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0071 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0072 | 0/0 | 15117 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0073 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0074 | 0/0 | 15117 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0075 | 0/0 | 15117 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0076 | 0/0 | 15117 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0077 | 0/0 | 15117 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0078 | 0/0 | 15117 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0079 | 0/0 | 15117 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0080 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0081 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0082 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0083 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0084 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0085 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0086 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0087 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0088 | 0/0 | 15117 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0089 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0090 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0091 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0092 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0093 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0094 | 0/0 | 15117 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0095 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0096 | 0/0 | 15117 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0097 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0098 | 0/0 | 15117 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0099 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0100 | 0/0 | 15117 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0101 | 0/0 | 15117 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0102 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0103 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0104 | 0/0 | 15117 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0105 | 0/0 | 15117 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0106 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0107 | 0/0 | 15117 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0108 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0109 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0110 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0111 | 0/0 | 15117 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0112 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0113 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0114 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0115 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0116 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0117 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0118 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0119 | 0/0 | 15117 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0120 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0121 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| c0122 | 0/0 | 15117 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| 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 | 284 | 197 | 47 | 50 | 63 | 2 | 33 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| t0002 | 0/0 | 284 | 16 | 14 | 0 | 1 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| t0003 | 0/0 | 284 | 4 | 0 | 0 | 4 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| t0004 | 0/0 | 260 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| 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 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0009 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0010 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0011 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0013 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0032 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0037 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0039 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0040 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0043 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0050 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0053 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0069 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0075 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0076 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0077 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0088 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0089 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0093 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0096 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0104 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0105 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0106 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0108 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0109 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0111 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0112 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0114 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0116 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0118 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0122 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0123 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0127 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0130 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0131 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0145 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0147 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0149 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0150 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0155 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0157 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0158 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0160 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0162 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0163 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0164 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0165 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0166 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0168 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0169 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0170 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0171 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0172 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0173 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0174 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0175 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0176 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0177 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0178 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0179 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0181 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0183 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0184 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0185 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0186 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0189 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0199 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0200 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0201 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0203 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0209 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0210 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0212 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0217 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| 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 | 15117 | 34 | 8 | 13 | 5 | 1 | 6 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0002 | 0/0 | 15117 | 12 | 0 | 0 | 12 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0003 | 0/0 | 15117 | 6 | 2 | 2 | 2 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0004 | 0/0 | 15117 | 5 | 2 | 1 | 2 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0005 | 0/0 | 15117 | 5 | 2 | 3 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0009 | 0/0 | 15117 | 3 | 0 | 0 | 0 | 0 | 3 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0011 | 0/0 | 15117 | 3 | 3 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0013 | 0/0 | 15117 | 3 | 0 | 0 | 3 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0014 | 0/0 | 15117 | 3 | 3 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0017 | 0/0 | 15117 | 2 | 0 | 0 | 2 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0018 | 0/0 | 15117 | 2 | 0 | 2 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0019 | 0/0 | 15117 | 2 | 0 | 0 | 1 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0020 | 0/0 | 15117 | 2 | 2 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0022 | 0/0 | 15117 | 2 | 0 | 0 | 2 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0023 | 0/0 | 15117 | 2 | 0 | 0 | 1 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0024 | 1/0 | 15117 | 2 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0026 | 0/0 | 15117 | 2 | 0 | 2 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0027 | 0/0 | 15117 | 2 | 0 | 2 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0028 | 0/0 | 15117 | 2 | 0 | 0 | 2 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0029 | 0/0 | 15117 | 2 | 0 | 0 | 2 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0030 | 0/0 | 15117 | 2 | 0 | 0 | 2 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0031 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0033 | 0/0 | 15117 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0034 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0035 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0036 | 0/0 | 15117 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0044 | 0/0 | 15117 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0045 | 0/0 | 15117 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0049 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0052 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0054 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0055 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0056 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0058 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0059 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0062 | 0/0 | 15117 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0063 | 0/0 | 15117 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0065 | 0/0 | 15117 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0066 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0067 | 0/0 | 15117 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0068 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0069 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0070 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0071 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0075 | 0/0 | 15117 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0076 | 0/0 | 15117 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0077 | 0/0 | 15117 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0082 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0085 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0089 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0090 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0091 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0094 | 0/0 | 15117 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0095 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0096 | 0/0 | 15117 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0098 | 0/0 | 15117 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0099 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0101 | 0/0 | 15117 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0102 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0105 | 0/0 | 15117 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0108 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0110 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0111 | 0/0 | 15117 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0114 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0116 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0117 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0118 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0119 | 0/0 | 15117 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0120 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0002c0008 | 0/0 | 15117 | 4 | 0 | 0 | 1 | 1 | 2 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0002c0012 | 0/0 | 15117 | 3 | 0 | 1 | 0 | 0 | 2 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0002c0025 | 0/0 | 15117 | 2 | 0 | 0 | 0 | 0 | 2 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0002c0053 | 0/0 | 15117 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0002c0078 | 0/0 | 15117 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0002c0079 | 0/0 | 15117 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0003c0006 | 0/0 | 15117 | 5 | 0 | 2 | 3 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0003c0050 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0003c0051 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0003c0064 | 0/0 | 15117 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0003c0093 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0003c0100 | 0/0 | 15117 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0003c0122 | 0/0 | 15117 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0004c0015 | 0/0 | 15117 | 3 | 3 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0004c0047 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0004c0072 | 0/0 | 15117 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0004c0084 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0004c0115 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0005c0016 | 0/0 | 15117 | 2 | 0 | 0 | 0 | 0 | 2 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0005c0088 | 0/0 | 15117 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0005c0107 | 0/0 | 15117 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0006c0007 | 0/0 | 15117 | 4 | 4 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0007c0037 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0007c0038 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0007c0039 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0008c0010 | 0/0 | 15117 | 3 | 3 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0009c0103 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0009c0104 | 0/0 | 15117 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0010c0021 | 0/0 | 15114 | 2 | 0 | 0 | 0 | 0 | 2 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0011c0121 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0012c0113 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0013c0040 | 0/0 | 15117 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0014c0073 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0015c0086 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0016c0106 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0017c0041 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0018c0083 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0019c0080 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0020c0081 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0021c0112 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0022c0060 | 0/0 | 15117 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0023c0109 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0024c0061 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0025c0097 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0026c0046 | 0/0 | 15117 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0027c0092 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0028c0087 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0029c0057 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0030c0048 | 0/0 | 15117 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0031c0032 | 0/0 | 15117 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0032c0074 | 0/0 | 15117 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0033c0043 | 0/0 | 15117 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0034c0042 | 0/0 | 15117 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/1 | 15400 | 34 | 8 | 13 | 5 | 1 | 6 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0002t0001 | 0/0 | 15400 | 12 | 0 | 0 | 12 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0003t0001 | 0/0 | 15400 | 4 | 0 | 2 | 2 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0003t0002 | 0/0 | 15400 | 2 | 2 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0004t0001 | 0/0 | 15400 | 5 | 2 | 1 | 2 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0005t0001 | 0/0 | 15400 | 5 | 2 | 3 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0009t0001 | 0/0 | 15400 | 3 | 0 | 0 | 0 | 0 | 3 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0011t0001 | 0/0 | 15400 | 3 | 3 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0013t0001 | 0/0 | 15400 | 3 | 0 | 0 | 3 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0014t0001 | 0/0 | 15400 | 3 | 3 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0017t0001 | 0/0 | 15400 | 2 | 0 | 0 | 2 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0018t0001 | 0/0 | 15400 | 2 | 0 | 2 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0019t0002 | 0/0 | 15400 | 2 | 0 | 0 | 1 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0020t0001 | 0/0 | 15400 | 2 | 2 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0022t0001 | 0/0 | 15400 | 2 | 0 | 0 | 2 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0023t0001 | 0/0 | 15400 | 2 | 0 | 0 | 1 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0024t0001 | 1/0 | 15400 | 2 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0026t0001 | 0/0 | 15400 | 2 | 0 | 2 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0027t0001 | 0/0 | 15400 | 2 | 0 | 2 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0028t0001 | 0/0 | 15400 | 2 | 0 | 0 | 2 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0029t0001 | 0/0 | 15400 | 2 | 0 | 0 | 2 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0030t0001 | 0/0 | 15400 | 2 | 0 | 0 | 2 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0031t0001 | 0/0 | 15400 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0033t0001 | 0/0 | 15400 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0034t0001 | 0/0 | 15400 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0035t0001 | 0/0 | 15400 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0036t0001 | 0/0 | 15400 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0044t0001 | 0/0 | 15400 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0045t0001 | 0/0 | 15400 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0049t0003 | 0/0 | 15400 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0052t0003 | 0/0 | 15400 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0054t0001 | 0/0 | 15400 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0055t0001 | 0/0 | 15400 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0056t0001 | 0/0 | 15400 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0058t0001 | 0/0 | 15400 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0059t0001 | 0/0 | 15400 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0062t0001 | 0/0 | 15400 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0063t0001 | 0/0 | 15400 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0065t0001 | 0/0 | 15400 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0066t0001 | 0/0 | 15400 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0067t0001 | 0/0 | 15400 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0068t0002 | 0/0 | 15400 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0069t0001 | 0/0 | 15400 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0070t0001 | 0/0 | 15400 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0071t0001 | 0/0 | 15400 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0075t0001 | 0/0 | 15400 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0076t0001 | 0/0 | 15400 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0077t0001 | 0/0 | 15400 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0082t0001 | 0/0 | 15400 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0085t0001 | 0/0 | 15400 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0089t0001 | 0/0 | 15400 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0090t0001 | 0/0 | 15400 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0091t0001 | 0/0 | 15400 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0094t0001 | 0/0 | 15400 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0095t0001 | 0/0 | 15400 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0096t0001 | 0/0 | 15400 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0098t0001 | 0/0 | 15400 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0099t0001 | 0/0 | 15400 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0101t0001 | 0/0 | 15400 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0102t0001 | 0/0 | 15400 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0105t0001 | 0/0 | 15400 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0108t0001 | 0/0 | 15400 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0110t0001 | 0/0 | 15400 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0111t0001 | 0/0 | 15400 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0114t0001 | 0/0 | 15400 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0116t0001 | 0/0 | 15400 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0117t0001 | 0/0 | 15400 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0118t0001 | 0/0 | 15400 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0119t0001 | 0/0 | 15400 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0001c0120t0001 | 0/0 | 15400 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0002c0008t0001 | 0/0 | 15400 | 4 | 0 | 0 | 1 | 1 | 2 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0002c0012t0001 | 0/0 | 15400 | 3 | 0 | 1 | 0 | 0 | 2 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0002c0025t0001 | 0/0 | 15400 | 2 | 0 | 0 | 0 | 0 | 2 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0002c0053t0001 | 0/0 | 15400 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0002c0078t0001 | 0/0 | 15400 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0002c0079t0001 | 0/0 | 15400 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0003c0006t0001 | 0/0 | 15400 | 5 | 0 | 2 | 3 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0003c0050t0003 | 0/0 | 15400 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0003c0051t0003 | 0/0 | 15400 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0003c0064t0001 | 0/0 | 15400 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0003c0093t0001 | 0/0 | 15400 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0003c0100t0001 | 0/0 | 15400 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0003c0122t0001 | 0/0 | 15400 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0004c0015t0001 | 0/0 | 15400 | 3 | 3 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0004c0047t0002 | 0/0 | 15400 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0004c0072t0001 | 0/0 | 15400 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0004c0084t0002 | 0/0 | 15400 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0004c0115t0004 | 0/0 | 15376 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0005c0016t0001 | 0/0 | 15400 | 2 | 0 | 0 | 0 | 0 | 2 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0005c0088t0001 | 0/0 | 15400 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0005c0107t0001 | 0/0 | 15400 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0006c0007t0002 | 0/0 | 15400 | 4 | 4 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0007c0037t0002 | 0/0 | 15400 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0007c0038t0002 | 0/0 | 15400 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0007c0039t0001 | 0/0 | 15400 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0008c0010t0001 | 0/0 | 15400 | 3 | 3 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0009c0103t0001 | 0/0 | 15400 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0009c0104t0001 | 0/0 | 15400 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0010c0021t0001 | 0/0 | 15397 | 2 | 0 | 0 | 0 | 0 | 2 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0011c0121t0001 | 0/0 | 15400 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0012c0113t0001 | 0/0 | 15400 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0013c0040t0001 | 0/0 | 15400 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0014c0073t0001 | 0/0 | 15400 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0015c0086t0001 | 0/0 | 15400 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0016c0106t0001 | 0/0 | 15400 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0017c0041t0001 | 0/0 | 15400 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0018c0083t0002 | 0/0 | 15400 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0019c0080t0001 | 0/0 | 15400 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0020c0081t0001 | 0/0 | 15400 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0021c0112t0001 | 0/0 | 15400 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0022c0060t0001 | 0/0 | 15400 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0023c0109t0001 | 0/0 | 15400 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0024c0061t0001 | 0/0 | 15400 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0025c0097t0001 | 0/0 | 15400 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0026c0046t0001 | 0/0 | 15400 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0027c0092t0001 | 0/0 | 15400 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0028c0087t0001 | 0/0 | 15400 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0029c0057t0002 | 0/0 | 15400 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0030c0048t0001 | 0/0 | 15400 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0031c0032t0001 | 0/0 | 15400 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0032c0074t0001 | 0/0 | 15400 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0033c0043t0002 | 0/0 | 15400 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| a0034c0042t0001 | 0/0 | 15400 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | copy fasta | chr19 | 38428691 | 38592564 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0010 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0001t0001g0011 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0001t0001g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0001t0001g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0001t0001g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0001t0001g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0001t0001g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0001t0001g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0001t0001g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0001t0001g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0001t0001g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0001t0001g0037 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0001t0001g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0001t0001g0039 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0001t0001g0040 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0001t0001g0043 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0001t0001g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0001t0001g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0001t0001g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0001t0001g0069 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0001t0001g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0001t0001g0075 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0001t0001g0076 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0001t0001g0077 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0001t0001g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0001t0001g0088 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0001t0001g0093 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0001t0001g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0001t0001g0145 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0001t0001g0147 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0001t0001g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0001t0001g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0001t0001g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0001t0001g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0002t0001g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0002t0001g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0002t0001g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0002t0001g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0002t0001g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0002t0001g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0002t0001g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0002t0001g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0002t0001g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0002t0001g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0002t0001g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0002t0001g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0003t0001g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0003t0001g0105 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0003t0001g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0003t0001g0116 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0003t0002g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0003t0002g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0004t0001g0096 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0004t0001g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0004t0001g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0004t0001g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0004t0001g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0005t0001g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0005t0001g0155 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0005t0001g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0005t0001g0176 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0005t0001g0179 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0009t0001g0199 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0009t0001g0200 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0009t0001g0201 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0011t0001g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0011t0001g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0011t0001g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0013t0001g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0013t0001g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0013t0001g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0014t0001g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0014t0001g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0014t0001g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0017t0001g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0017t0001g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0018t0001g0160 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0018t0001g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0019t0002g0217 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0019t0002g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0020t0001g0185 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0020t0001g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0022t0001g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0022t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0023t0001g0109 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0023t0001g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0024t0001g0169 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0024t0001g0174 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0026t0001g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0026t0001g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0027t0001g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0027t0001g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0028t0001g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0028t0001g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0029t0001g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0029t0001g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0030t0001g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0030t0001g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0031t0001g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0033t0001g0158 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0034t0001g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0035t0001g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0036t0001g0111 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0044t0001g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0045t0001g0009 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0049t0003g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0052t0003g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0054t0001g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0055t0001g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0056t0001g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0058t0001g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0059t0001g0184 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0062t0001g0050 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0063t0001g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0065t0001g0131 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0066t0001g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0067t0001g0183 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0068t0002g0209 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0069t0001g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0070t0001g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0071t0001g0186 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0075t0001g0165 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0076t0001g0164 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0077t0001g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0082t0001g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0085t0001g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0089t0001g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0090t0001g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0091t0001g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0094t0001g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0095t0001g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0096t0001g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0098t0001g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0099t0001g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0101t0001g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0102t0001g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0105t0001g0089 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0108t0001g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0110t0001g0157 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0111t0001g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0114t0001g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0116t0001g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0117t0001g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0118t0001g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0119t0001g0189 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0001c0120t0001g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0002c0008t0001g0163 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0002c0008t0001g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0002c0008t0001g0172 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0002c0008t0001g0175 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0002c0012t0001g0166 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0002c0012t0001g0168 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0002c0012t0001g0171 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0002c0025t0001g0162 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0002c0025t0001g0170 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0002c0053t0001g0106 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0002c0078t0001g0130 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0002c0079t0001g0173 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0003c0006t0001g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0003c0006t0001g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0003c0006t0001g0114 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0003c0006t0001g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0003c0006t0001g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0003c0050t0003g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0003c0051t0003g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0003c0064t0001g0181 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0003c0093t0001g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0003c0100t0001g0150 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0003c0122t0001g0149 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0004c0015t0001g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0004c0015t0001g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0004c0015t0001g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0004c0047t0002g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0004c0072t0001g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0004c0084t0002g0210 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0004c0115t0004g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0005c0016t0001g0122 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0005c0016t0001g0123 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0005c0088t0001g0053 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0005c0107t0001g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0006c0007t0002g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0006c0007t0002g0203 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0006c0007t0002g0212 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0006c0007t0002g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0007c0037t0002g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0007c0038t0002g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0007c0039t0001g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0008c0010t0001g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0008c0010t0001g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0008c0010t0001g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0009c0103t0001g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0009c0104t0001g0013 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0010c0021t0001g0177 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0010c0021t0001g0178 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0011c0121t0001g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0012c0113t0001g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0013c0040t0001g0108 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0014c0073t0001g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0015c0086t0001g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0016c0106t0001g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0017c0041t0001g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0018c0083t0002g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0019c0080t0001g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0020c0081t0001g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0021c0112t0001g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0022c0060t0001g0112 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0023c0109t0001g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0024c0061t0001g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0025c0097t0001g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0026c0046t0001g0127 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0027c0092t0001g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0028c0087t0001g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0029c0057t0002g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0030c0048t0001g0118 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0031c0032t0001g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0032c0074t0001g0032 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0033c0043t0002g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| a0034c0042t0001g0104 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00438 | hp1 | a0021 | c0112 | t0001 | g0196 | EAS | CHS | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG00438 | hp2 | a0001 | c0013 | t0001 | g0060 | EAS | CHS | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG00609 | hp1 | a0003 | c0006 | t0001 | g0191 | EAS | CHS | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG00609 | hp2 | a0001 | c0002 | t0001 | g0063 | EAS | CHS | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG00621 | hp1 | a0001 | c0013 | t0001 | g0115 | EAS | CHS | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG00621 | hp2 | a0001 | c0028 | t0001 | g0182 | EAS | CHS | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG00639 | hp1 | a0001 | c0101 | t0001 | g0041 | AMR | PUR | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG00639 | hp2 | a0001 | c0063 | t0001 | g0049 | AMR | PUR | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG00642 | hp1 | a0001 | c0001 | t0001 | g0043 | AMR | PUR | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG00642 | hp2 | a0001 | c0119 | t0001 | g0189 | AMR | PUR | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG00733 | hp1 | a0001 | c0001 | t0001 | g0012 | AMR | PUR | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG00733 | hp2 | a0001 | c0005 | t0001 | g0176 | AMR | PUR | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG00735 | hp1 | a0001 | c0003 | t0001 | g0116 | AMR | PUR | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG00735 | hp2 | a0001 | c0062 | t0001 | g0050 | AMR | PUR | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG01070 | hp1 | a0030 | c0048 | t0001 | g0118 | AMR | PUR | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG01070 | hp2 | a0001 | c0001 | t0001 | g0037 | AMR | PUR | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG01071 | hp1 | a0001 | c0001 | t0001 | g0038 | AMR | PUR | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG01071 | hp2 | a0003 | c0100 | t0001 | g0150 | AMR | PUR | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG01099 | hp1 | a0001 | c0044 | t0001 | g0048 | AMR | PUR | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG01099 | hp2 | a0001 | c0033 | t0001 | g0158 | AMR | PUR | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG01106 | hp1 | a0009 | c0104 | t0001 | g0013 | AMR | PUR | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG01106 | hp2 | a0001 | c0001 | t0001 | g0077 | AMR | PUR | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG01109 | hp1 | a0004 | c0072 | t0001 | g0125 | AMR | PUR | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG01109 | hp2 | a0001 | c0075 | t0001 | g0165 | AMR | PUR | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG01169 | hp1 | a0001 | c0067 | t0001 | g0183 | AMR | PUR | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG01169 | hp2 | a0001 | c0001 | t0001 | g0148 | AMR | PUR | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG01175 | hp1 | a0001 | c0004 | t0001 | g0096 | AMR | PUR | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG01175 | hp2 | a0001 | c0105 | t0001 | g0089 | AMR | PUR | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG01243 | hp1 | a0002 | c0079 | t0001 | g0173 | AMR | PUR | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG01243 | hp2 | a0001 | c0094 | t0001 | g0066 | AMR | PUR | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG01255 | hp1 | a0001 | c0001 | t0001 | g0088 | AMR | CLM | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG01255 | hp2 | a0001 | c0111 | t0001 | g0140 | AMR | CLM | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG01256 | hp1 | a0001 | c0005 | t0001 | g0179 | AMR | CLM | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG01256 | hp2 | a0001 | c0026 | t0001 | g0062 | AMR | CLM | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG01257 | hp1 | a0001 | c0001 | t0001 | g0014 | AMR | CLM | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG01257 | hp2 | a0001 | c0018 | t0001 | g0160 | AMR | CLM | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG01258 | hp1 | a0001 | c0026 | t0001 | g0061 | AMR | CLM | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG01258 | hp2 | a0001 | c0018 | t0001 | g0161 | AMR | CLM | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG01433 | hp1 | a0001 | c0096 | t0001 | g0090 | AMR | CLM | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG01433 | hp2 | a0002 | c0012 | t0001 | g0166 | AMR | CLM | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG01884 | hp1 | a0004 | c0015 | t0001 | g0188 | AFR | ACB | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG01884 | hp2 | a0001 | c0090 | t0001 | g0017 | AFR | ACB | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG01891 | hp1 | a0006 | c0007 | t0002 | g0203 | AFR | ACB | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG01891 | hp2 | a0001 | c0014 | t0001 | g0024 | AFR | ACB | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG01934 | hp1 | a0003 | c0006 | t0001 | g0057 | AMR | PEL | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG01934 | hp2 | a0001 | c0001 | t0001 | g0070 | AMR | PEL | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG01943 | hp1 | a0001 | c0001 | t0001 | g0145 | AMR | PEL | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG01943 | hp2 | a0005 | c0107 | t0001 | g0042 | AMR | PEL | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG01975 | hp1 | a0001 | c0001 | t0001 | g0147 | AMR | PEL | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG01975 | hp2 | a0001 | c0027 | t0001 | g0030 | AMR | PEL | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG01978 | hp1 | a0001 | c0077 | t0001 | g0047 | AMR | PEL | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG01978 | hp2 | a0034 | c0042 | t0001 | g0104 | AMR | PEL | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG01981 | hp1 | a0001 | c0027 | t0001 | g0059 | AMR | PEL | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG01981 | hp2 | a0001 | c0001 | t0001 | g0094 | AMR | PEL | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02015 | hp1 | a0001 | c0116 | t0001 | g0121 | EAS | KHV | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02015 | hp2 | a0027 | c0092 | t0001 | g0073 | EAS | KHV | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02027 | hp1 | a0001 | c0085 | t0001 | g0198 | EAS | KHV | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02027 | hp2 | a0001 | c0002 | t0001 | g0124 | EAS | KHV | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02056 | hp1 | a0003 | c0006 | t0001 | g0045 | EAS | KHV | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02056 | hp2 | a0001 | c0002 | t0001 | g0194 | EAS | KHV | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02074 | hp1 | a0001 | c0031 | t0001 | g0159 | EAS | KHV | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02074 | hp2 | a0001 | c0003 | t0001 | g0100 | EAS | KHV | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02080 | hp1 | a0001 | c0002 | t0001 | g0141 | EAS | KHV | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02080 | hp2 | a0001 | c0049 | t0003 | g0033 | EAS | KHV | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02083 | hp1 | a0001 | c0102 | t0001 | g0065 | EAS | KHV | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02083 | hp2 | a0003 | c0006 | t0001 | g0193 | EAS | KHV | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02148 | hp1 | a0003 | c0006 | t0001 | g0114 | AMR | PEL | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02148 | hp2 | a0003 | c0122 | t0001 | g0149 | AMR | PEL | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02155 | hp1 | a0001 | c0114 | t0001 | g0072 | EAS | CDX | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02155 | hp2 | a0001 | c0023 | t0001 | g0110 | EAS | CDX | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02257 | hp1 | a0001 | c0020 | t0001 | g0185 | AFR | ACB | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02257 | hp2 | a0006 | c0007 | t0002 | g0213 | AFR | ACB | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02293 | hp1 | a0001 | c0003 | t0001 | g0105 | AMR | PEL | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02293 | hp2 | a0001 | c0001 | t0001 | g0058 | AMR | PEL | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02523 | hp1 | a0001 | c0001 | t0001 | g0079 | EAS | KHV | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02523 | hp2 | a0001 | c0001 | t0001 | g0153 | EAS | KHV | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02615 | hp1 | a0001 | c0003 | t0002 | g0206 | AFR | GWD | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02615 | hp2 | a0004 | c0015 | t0001 | g0187 | AFR | GWD | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02622 | hp1 | a0001 | c0070 | t0001 | g0002 | AFR | GWD | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02622 | hp2 | a0001 | c0001 | t0001 | g0015 | AFR | GWD | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02630 | hp1 | a0004 | c0115 | t0004 | g0216 | AFR | GWD | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02630 | hp2 | a0001 | c0054 | t0001 | g0136 | AFR | GWD | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02647 | hp1 | a0001 | c0059 | t0001 | g0184 | AFR | GWD | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02647 | hp2 | a0019 | c0080 | t0001 | g0142 | AFR | GWD | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02683 | hp1 | a0001 | c0001 | t0001 | g0039 | SAS | PJL | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02683 | hp2 | a0002 | c0008 | t0001 | g0175 | SAS | PJL | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02698 | hp1 | a0001 | c0036 | t0001 | g0111 | SAS | PJL | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02698 | hp2 | a0026 | c0046 | t0001 | g0127 | SAS | PJL | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02723 | hp1 | a0001 | c0003 | t0002 | g0207 | AFR | GWD | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02723 | hp2 | a0001 | c0001 | t0001 | g0016 | AFR | GWD | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02735 | hp1 | a0002 | c0012 | t0001 | g0168 | SAS | PJL | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02735 | hp2 | a0001 | c0009 | t0001 | g0201 | SAS | PJL | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02809 | hp1 | a0001 | c0001 | t0001 | g0026 | AFR | GWD | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02809 | hp2 | a0033 | c0043 | t0002 | g0208 | AFR | GWD | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02897 | hp1 | a0001 | c0001 | t0001 | g0018 | AFR | GWD | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02897 | hp2 | a0001 | c0058 | t0001 | g0001 | AFR | GWD | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02922 | hp1 | a0001 | c0011 | t0001 | g0005 | AFR | ESN | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02922 | hp2 | a0004 | c0084 | t0002 | g0210 | AFR | ESN | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02965 | hp1 | a0008 | c0010 | t0001 | g0008 | AFR | ESN | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02965 | hp2 | a0001 | c0011 | t0001 | g0021 | AFR | ESN | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02970 | hp1 | a0001 | c0069 | t0001 | g0139 | AFR | ESN | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02970 | hp2 | a0001 | c0082 | t0001 | g0027 | AFR | ESN | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG03017 | hp1 | a0001 | c0023 | t0001 | g0109 | SAS | PJL | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG03017 | hp2 | a0010 | c0021 | t0001 | g0178 | SAS | PJL | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG03041 | hp1 | a0014 | c0073 | t0001 | g0126 | AFR | GWD | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG03041 | hp2 | a0001 | c0005 | t0001 | g0156 | AFR | GWD | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG03098 | hp1 | a0006 | c0007 | t0002 | g0202 | AFR | MSL | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG03098 | hp2 | a0001 | c0001 | t0001 | g0029 | AFR | MSL | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG03130 | hp1 | a0001 | c0071 | t0001 | g0186 | AFR | ESN | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG03130 | hp2 | a0018 | c0083 | t0002 | g0211 | AFR | ESN | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG03139 | hp1 | a0008 | c0010 | t0001 | g0006 | AFR | ESN | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG03139 | hp2 | a0016 | c0106 | t0001 | g0099 | AFR | ESN | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG03209 | hp1 | a0015 | c0086 | t0001 | g0019 | AFR | MSL | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG03209 | hp2 | a0001 | c0001 | t0001 | g0022 | AFR | MSL | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG03453 | hp1 | a0007 | c0038 | t0002 | g0215 | AFR | MSL | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG03453 | hp2 | a0006 | c0007 | t0002 | g0212 | AFR | MSL | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG03486 | hp1 | a0001 | c0011 | t0001 | g0003 | AFR | MSL | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG03486 | hp2 | a0001 | c0001 | t0001 | g0064 | AFR | MSL | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG03490 | hp1 | a0001 | c0001 | t0001 | g0075 | SAS | PJL | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG03490 | hp2 | a0001 | c0009 | t0001 | g0200 | SAS | PJL | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG03491 | hp1 | a0002 | c0008 | t0001 | g0163 | SAS | PJL | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG03491 | hp2 | a0001 | c0001 | t0001 | g0010 | SAS | PJL | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG03492 | hp1 | a0001 | c0001 | t0001 | g0011 | SAS | PJL | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG03492 | hp2 | a0001 | c0009 | t0001 | g0199 | SAS | PJL | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG03516 | hp1 | a0028 | c0087 | t0001 | g0023 | AFR | ESN | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG03516 | hp2 | a0001 | c0014 | t0001 | g0004 | AFR | ESN | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG03579 | hp1 | a0004 | c0047 | t0002 | g0205 | AFR | MSL | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG03579 | hp2 | a0029 | c0057 | t0002 | g0204 | AFR | MSL | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG03669 | hp1 | a0002 | c0012 | t0001 | g0171 | SAS | PJL | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG03669 | hp2 | a0002 | c0025 | t0001 | g0162 | SAS | PJL | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG03710 | hp1 | a0013 | c0040 | t0001 | g0108 | SAS | PJL | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG03710 | hp2 | a0010 | c0021 | t0001 | g0177 | SAS | PJL | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG03834 | hp1 | a0002 | c0025 | t0001 | g0170 | SAS | BEB | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG03834 | hp2 | a0032 | c0074 | t0001 | g0032 | SAS | BEB | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG03927 | hp1 | a0002 | c0053 | t0001 | g0106 | SAS | BEB | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG03927 | hp2 | a0001 | c0024 | t0001 | g0174 | SAS | BEB | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG03942 | hp1 | a0001 | c0019 | t0002 | g0217 | SAS | BEB | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG03942 | hp2 | a0001 | c0065 | t0001 | g0131 | SAS | BEB | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG04184 | hp1 | a0001 | c0076 | t0001 | g0164 | SAS | BEB | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG04184 | hp2 | a0002 | c0078 | t0001 | g0130 | SAS | BEB | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG04199 | hp1 | a0005 | c0016 | t0001 | g0122 | SAS | STU | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG04199 | hp2 | a0001 | c0045 | t0001 | g0009 | SAS | STU | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG04204 | hp1 | a0005 | c0088 | t0001 | g0053 | SAS | STU | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG04204 | hp2 | a0005 | c0016 | t0001 | g0123 | SAS | STU | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG04228 | hp1 | a0001 | c0001 | t0001 | g0093 | SAS | STU | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG04228 | hp2 | a0022 | c0060 | t0001 | g0112 | SAS | STU | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA18522 | hp1 | a0001 | c0005 | t0001 | g0154 | AFR | YRI | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA18522 | hp2 | a0023 | c0109 | t0001 | g0020 | AFR | YRI | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA18612 | hp1 | a0001 | c0004 | t0001 | g0103 | EAS | CHB | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA18612 | hp2 | a0001 | c0034 | t0001 | g0180 | EAS | CHB | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA18747 | hp1 | a0001 | c0002 | t0001 | g0081 | EAS | CHB | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA18747 | hp2 | a0001 | c0035 | t0001 | g0113 | EAS | CHB | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA18939 | hp1 | a0001 | c0095 | t0001 | g0190 | EAS | JPT | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA18939 | hp2 | a0001 | c0022 | t0001 | g0051 | EAS | JPT | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA18951 | hp1 | a0001 | c0001 | t0001 | g0151 | EAS | JPT | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA18951 | hp2 | a0001 | c0066 | t0001 | g0092 | EAS | JPT | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA18952 | hp1 | a0001 | c0002 | t0001 | g0087 | EAS | JPT | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA18952 | hp2 | a0001 | c0001 | t0001 | g0152 | EAS | JPT | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA18964 | hp1 | a0003 | c0093 | t0001 | g0078 | EAS | JPT | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA18964 | hp2 | a0001 | c0030 | t0001 | g0055 | EAS | JPT | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA18966 | hp1 | a0001 | c0001 | t0001 | g0067 | EAS | JPT | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA18966 | hp2 | a0001 | c0120 | t0001 | g0132 | EAS | JPT | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA18970 | hp1 | a0001 | c0030 | t0001 | g0054 | EAS | JPT | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA18970 | hp2 | a0001 | c0029 | t0001 | g0074 | EAS | JPT | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA18980 | hp1 | a0001 | c0002 | t0001 | g0080 | EAS | JPT | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA18980 | hp2 | a0001 | c0052 | t0003 | g0034 | EAS | JPT | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA18983 | hp1 | a0001 | c0002 | t0001 | g0082 | EAS | JPT | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA18983 | hp2 | a0003 | c0050 | t0003 | g0035 | EAS | JPT | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA18998 | hp1 | a0001 | c0089 | t0001 | g0046 | EAS | JPT | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA18998 | hp2 | a0001 | c0002 | t0001 | g0133 | EAS | JPT | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA19000 | hp1 | a0001 | c0002 | t0001 | g0091 | EAS | JPT | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA19000 | hp2 | a0024 | c0061 | t0001 | g0044 | EAS | JPT | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA19004 | hp1 | a0025 | c0097 | t0001 | g0084 | EAS | JPT | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA19004 | hp2 | a0009 | c0103 | t0001 | g0146 | EAS | JPT | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA19010 | hp1 | a0001 | c0091 | t0001 | g0144 | EAS | JPT | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA19010 | hp2 | a0001 | c0118 | t0001 | g0134 | EAS | JPT | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA19030 | hp1 | a0001 | c0108 | t0001 | g0138 | AFR | LWK | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA19030 | hp2 | a0020 | c0081 | t0001 | g0143 | AFR | LWK | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA19043 | hp1 | a0017 | c0041 | t0001 | g0117 | AFR | LWK | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA19043 | hp2 | a0004 | c0015 | t0001 | g0098 | AFR | LWK | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA19057 | hp1 | a0001 | c0099 | t0001 | g0192 | EAS | JPT | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA19057 | hp2 | a0011 | c0121 | t0001 | g0086 | EAS | JPT | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA19063 | hp1 | a0001 | c0013 | t0001 | g0056 | EAS | JPT | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA19063 | hp2 | a0001 | c0003 | t0001 | g0107 | EAS | JPT | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA19065 | hp1 | a0001 | c0002 | t0001 | g0095 | EAS | JPT | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA19065 | hp2 | a0012 | c0113 | t0001 | g0195 | EAS | JPT | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA19066 | hp1 | a0002 | c0008 | t0001 | g0167 | EAS | JPT | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA19066 | hp2 | a0001 | c0002 | t0001 | g0085 | EAS | JPT | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA19067 | hp1 | a0001 | c0019 | t0002 | g0218 | EAS | JPT | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA19067 | hp2 | a0001 | c0017 | t0001 | g0102 | EAS | JPT | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA19068 | hp1 | a0031 | c0032 | t0001 | g0128 | EAS | JPT | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA19068 | hp2 | a0003 | c0051 | t0003 | g0036 | EAS | JPT | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA19074 | hp1 | a0001 | c0117 | t0001 | g0120 | EAS | JPT | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA19074 | hp2 | a0001 | c0028 | t0001 | g0068 | EAS | JPT | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA19084 | hp1 | a0001 | c0022 | t0001 | g0052 | EAS | JPT | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA19084 | hp2 | a0001 | c0017 | t0001 | g0129 | EAS | JPT | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA19240 | hp1 | a0001 | c0055 | t0001 | g0137 | AFR | YRI | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA19240 | hp2 | a0001 | c0001 | t0001 | g0028 | AFR | YRI | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA20129 | hp1 | a0001 | c0004 | t0001 | g0097 | AFR | ASW | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA20129 | hp2 | a0001 | c0068 | t0002 | g0209 | AFR | ASW | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA20805 | hp1 | a0002 | c0008 | t0001 | g0172 | EUR | TSI | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA20805 | hp2 | a0001 | c0001 | t0001 | g0040 | EUR | TSI | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA20905 | hp1 | a0003 | c0064 | t0001 | g0181 | SAS | GIH | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA20905 | hp2 | a0001 | c0001 | t0001 | g0076 | SAS | GIH | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG01123 | hp1 | a0001 | c0005 | t0001 | g0155 | AMR | CLM | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG01123 | hp2 | a0001 | c0098 | t0001 | g0071 | AMR | CLM | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02109 | hp1 | a0001 | c0014 | t0001 | g0025 | AFR | ACB | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02109 | hp2 | a0001 | c0020 | t0001 | g0197 | AFR | ACB | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02559 | hp1 | a0001 | c0004 | t0001 | g0119 | AFR | ACB | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG02559 | hp2 | a0001 | c0056 | t0001 | g0135 | AFR | ACB | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG03471 | hp1 | a0007 | c0039 | t0001 | g0031 | AFR | MSL | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| HG03471 | hp2 | a0007 | c0037 | t0002 | g0214 | AFR | MSL | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA18955 | hp1 | a0001 | c0029 | t0001 | g0083 | EAS | JPT | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA18955 | hp2 | a0001 | c0004 | t0001 | g0101 | EAS | JPT | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA20300 | hp1 | a0008 | c0010 | t0001 | g0007 | AFR | USA | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| NA20300 | hp2 | a0001 | c0110 | t0001 | g0157 | AFR | USA | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0001 | g0069 | REF | REF | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| homoSapiens_grch38 | hp1 | a0001 | c0024 | t0001 | g0169 | REF | REF | RYR1_chr19_38428691_38592564 | RYR1 | chr19 | 38428691 | 38592564 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr19:38442434
|
C | T | 1 | a0011 | 1 | NA19057.hp2 | missense_variant | MODERATE | c.251C>T | p.Thr84Met | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 3/106 | 390/15400 | 251/15117 | 84/5038 | chr19 | 38442434 | ||
| chr19:38460463
|
C | T | 1 | a0012 | 1 | NA19065.hp2 | stop_gained | HIGH | c.2449C>T | p.Arg817* | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/106 | 2588/15400 | 2449/15117 | 817/5038 | chr19 | 38460463 | ||
| chr19:38460565
|
G | A | 1 | a0013 | 1 | HG03710.hp1 | missense_variant | MODERATE | c.2551G>A | p.Val851Met | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/106 | 2690/15400 | 2551/15117 | 851/5038 | chr19 | 38460565 | ||
| chr19:38467757
|
G | A | 1 | a0007 | 3 | HG03453.hp1 HG03471.hp1 HG03471.hp2 |
missense_variant | MODERATE | c.3326G>A | p.Arg1109Lys | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 25/106 | 3465/15400 | 3326/15117 | 1109/5038 | chr19 | 38467757 | ||
| chr19:38473635
|
A | G | 9 | a0004a0008a0014others(6): Show | 17 | HG01109.hp1 HG01884.hp1 HG02615.hp2 others(14): Show |
missense_variant | MODERATE | c.4024A>G | p.Ser1342Gly | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 28/106 | 4163/15400 | 4024/15117 | 1342/5038 | chr19 | 38473635 | ||
| chr19:38473666
|
C | G | 2 | a0019a0020 | 2 | HG02647.hp2 NA19030.hp2 |
missense_variant | MODERATE | c.4055C>G | p.Ala1352Gly | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 28/106 | 4194/15400 | 4055/15117 | 1352/5038 | chr19 | 38473666 | ||
| chr19:38475427
|
G | A | 1 | a0034 | 1 | HG01978.hp2 | missense_variant | MODERATE | c.4270G>A | p.Glu1424Lys | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 29/106 | 4409/15400 | 4270/15117 | 1424/5038 | chr19 | 38475427 | ||
| chr19:38475449
|
C | T | 1 | a0021 | 1 | HG00438.hp1 | missense_variant&splice_region_variant | MODERATE | c.4292C>T | p.Thr1431Met | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 29/106 | 4431/15400 | 4292/15117 | 1431/5038 | chr19 | 38475449 | ||
| chr19:38477860
|
G | C | 1 | a0022 | 1 | HG04228.hp2 | missense_variant | MODERATE | c.4444G>C | p.Val1482Leu | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 30/106 | 4583/15400 | 4444/15117 | 1482/5038 | chr19 | 38477860 | ||
| chr19:38483476
|
C | T | 1 | a0018 | 1 | HG03130.hp2 | missense_variant | MODERATE | c.4894C>T | p.Pro1632Ser | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 33/106 | 5033/15400 | 4894/15117 | 1632/5038 | chr19 | 38483476 | ||
| chr19:38485654
|
C | T | 1 | a0009 | 2 | HG01106.hp1 NA19004.hp2 |
missense_variant | MODERATE | c.4999C>T | p.Arg1667Cys | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/106 | 5138/15400 | 4999/15117 | 1667/5038 | chr19 | 38485654 | ||
| chr19:38486006
|
C | A | 1 | a0033 | 1 | HG02809.hp2 | missense_variant | MODERATE | c.5351C>A | p.Ala1784Asp | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/106 | 5490/15400 | 5351/15117 | 1784/5038 | chr19 | 38486006 | ||
| chr19:38486015
|
C | T | 1 | a0005 | 4 | HG01943.hp2 HG04199.hp1 HG04204.hp1 others(1): Show |
missense_variant | MODERATE | c.5360C>T | p.Pro1787Leu | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/106 | 5499/15400 | 5360/15117 | 1787/5038 | chr19 | 38486015 | ||
| chr19:38489263
|
G | C | 1 | a0023 | 1 | NA18522.hp2 | missense_variant | MODERATE | c.5634G>C | p.Glu1878Asp | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 35/106 | 5773/15400 | 5634/15117 | 1878/5038 | chr19 | 38489263 | ||
| chr19:38489293
|
TGAG | T | 1 | a0010 | 2 | HG03017.hp2 HG03710.hp2 |
conservative_inframe_deletion | MODERATE | c.5671_5673delGAG | p.Glu1891del | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 35/106 | 5810/15400 | 5671/15117 | 1891/5038 | INFO_REALIGN_3_PRIME | chr19 | 38489293 | |
| chr19:38492540
|
G | T | 3 | a0002a0005a0013 | 17 | HG01243.hp1 HG01433.hp2 HG01943.hp2 others(14): Show |
missense_variant | MODERATE | c.6178G>T | p.Gly2060Cys | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 38/106 | 6317/15400 | 6178/15117 | 2060/5038 | chr19 | 38492540 | ||
| chr19:38494555
|
G | A | 1 | a0017 | 1 | NA19043.hp1 | missense_variant | MODERATE | c.6478G>A | p.Gly2160Ser | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 39/106 | 6617/15400 | 6478/15117 | 2160/5038 | chr19 | 38494555 | ||
| chr19:38502691
|
G | A | 1 | a0024 | 1 | NA19000.hp2 | missense_variant | MODERATE | c.7799G>A | p.Arg2600His | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/106 | 7938/15400 | 7799/15117 | 2600/5038 | chr19 | 38502691 | ||
| chr19:38502711
|
C | T | 1 | a0025 | 1 | NA19004.hp1 | missense_variant | MODERATE | c.7819C>T | p.Leu2607Phe | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/106 | 7958/15400 | 7819/15117 | 2607/5038 | chr19 | 38502711 | ||
| chr19:38505358
|
C | G | 3 | a0014a0019a0020 | 3 | HG02647.hp2 HG03041.hp1 NA19030.hp2 |
missense_variant | MODERATE | c.8360C>G | p.Thr2787Ser | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 53/106 | 8499/15400 | 8360/15117 | 2787/5038 | chr19 | 38505358 | ||
| chr19:38507722
|
G | A | 1 | a0023 | 1 | NA18522.hp2 | missense_variant | MODERATE | c.8827G>A | p.Asp2943Asn | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 58/106 | 8966/15400 | 8827/15117 | 2943/5038 | chr19 | 38507722 | ||
| chr19:38512366
|
C | T | 1 | a0026 | 1 | HG02698.hp2 | missense_variant | MODERATE | c.9355C>T | p.Arg3119Cys | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 63/106 | 9494/15400 | 9355/15117 | 3119/5038 | chr19 | 38512366 | ||
| chr19:38517400
|
A | G | 1 | a0020 | 1 | NA19030.hp2 | missense_variant | MODERATE | c.9727A>G | p.Ile3243Val | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 66/106 | 9866/15400 | 9727/15117 | 3243/5038 | chr19 | 38517400 | ||
| chr19:38527707
|
G | C | 1 | a0032 | 1 | HG03834.hp2 | missense_variant | MODERATE | c.10747G>C | p.Glu3583Gln | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 73/106 | 10886/15400 | 10747/15117 | 3583/5038 | chr19 | 38527707 | ||
| chr19:38528602
|
C | G | 1 | a0023 | 1 | NA18522.hp2 | missense_variant | MODERATE | c.10941C>G | p.His3647Gln | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 75/106 | 11080/15400 | 10941/15117 | 3647/5038 | chr19 | 38528602 | ||
| chr19:38534726
|
C | G | 2 | a0003a0011 | 12 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(9): Show |
missense_variant | MODERATE | c.11266C>G | p.Gln3756Glu | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 79/106 | 11405/15400 | 11266/15117 | 3756/5038 | chr19 | 38534726 | ||
| chr19:38543804
|
C | T | 1 | a0008 | 3 | HG02965.hp1 HG03139.hp1 NA20300.hp1 |
missense_variant | MODERATE | c.11941C>T | p.His3981Tyr | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 87/106 | 12080/15400 | 11941/15117 | 3981/5038 | chr19 | 38543804 | ||
| chr19:38548341
|
A | G | 1 | a0016 | 1 | HG03139.hp2 | missense_variant | MODERATE | c.12203A>G | p.Lys4068Arg | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/106 | 12342/15400 | 12203/15117 | 4068/5038 | chr19 | 38548341 | ||
| chr19:38565203
|
C | T | 1 | a0015 | 1 | HG03209.hp1 | missense_variant | MODERATE | c.12869C>T | p.Ala4290Val | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 91/106 | 13008/15400 | 12869/15117 | 4290/5038 | chr19 | 38565203 | ||
| chr19:38565214
|
A | G | 1 | a0027 | 1 | HG02015.hp2 | missense_variant | MODERATE | c.12880A>G | p.Thr4294Ala | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 91/106 | 13019/15400 | 12880/15117 | 4294/5038 | chr19 | 38565214 | ||
| chr19:38565215
|
C | T | 1 | a0028 | 1 | HG03516.hp1 | missense_variant | MODERATE | c.12881C>T | p.Thr4294Met | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 91/106 | 13020/15400 | 12881/15117 | 4294/5038 | chr19 | 38565215 | ||
| chr19:38565218
|
C | T | 1 | a0031 | 1 | NA19068.hp1 | missense_variant | MODERATE | c.12884C>T | p.Ala4295Val | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 91/106 | 13023/15400 | 12884/15117 | 4295/5038 | chr19 | 38565218 | ||
| chr19:38565290
|
G | A | 1 | a0015 | 1 | HG03209.hp1 | missense_variant | MODERATE | c.12956G>A | p.Arg4319Gln | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 91/106 | 13095/15400 | 12956/15117 | 4319/5038 | chr19 | 38565290 | ||
| chr19:38566975
|
C | T | 1 | a0006 | 4 | HG01891.hp1 HG02257.hp2 HG03098.hp1 others(1): Show |
missense_variant | MODERATE | c.13502C>T | p.Pro4501Leu | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 92/106 | 13641/15400 | 13502/15117 | 4501/5038 | chr19 | 38566975 | ||
| chr19:38566986
|
G | C | 1 | a0030 | 1 | HG01070.hp1 | missense_variant | MODERATE | c.13513G>C | p.Asp4505His | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 92/106 | 13652/15400 | 13513/15117 | 4505/5038 | chr19 | 38566986 | ||
| chr19:38572119
|
C | A | 2 | a0016a0029 | 2 | HG03139.hp2 HG03579.hp2 |
missense_variant | MODERATE | c.13847C>A | p.Ala4616Asp | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 95/106 | 13986/15400 | 13847/15117 | 4616/5038 | chr19 | 38572119 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr19:38440849
|
C | G | 1 | a0003c0122 | 1 | HG02148.hp2 | synonymous_variant | LOW | c.150C>G | p.Pro50Pro | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 2/106 | 289/15400 | 150/15117 | 50/5038 | chr19 | 38440849 | ||
| chr19:38442447
|
C | T | 1 | a0001c0120 | 1 | NA18966.hp2 | synonymous_variant | LOW | c.264C>T | p.Gly88Gly | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 3/106 | 403/15400 | 264/15117 | 88/5038 | chr19 | 38442447 | ||
| chr19:38444619
|
C | T | 2 | a0001c0119a0004c0015 | 4 | HG00642.hp2 HG01884.hp1 HG02615.hp2 others(1): Show |
synonymous_variant | LOW | c.573C>T | p.Asp191Asp | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 7/106 | 712/15400 | 573/15117 | 191/5038 | chr19 | 38444619 | ||
| chr19:38444640
|
A | G | 49 | a0001c0001a0001c0002a0001c0013others(46): Show | 106 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(103): Show |
synonymous_variant | LOW | c.594A>G | p.Leu198Leu | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 7/106 | 733/15400 | 594/15117 | 198/5038 | chr19 | 38444640 | ||
| chr19:38448427
|
G | A | 1 | a0001c0082 | 1 | HG02970.hp2 | synonymous_variant | LOW | c.873G>A | p.Ala291Ala | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 10/106 | 1012/15400 | 873/15117 | 291/5038 | chr19 | 38448427 | ||
| chr19:38448451
|
G | C | 4 | a0001c0119a0004c0015a0004c0084others(1): Show | 6 | HG00642.hp2 HG01884.hp1 HG02615.hp2 others(3): Show |
synonymous_variant | LOW | c.897G>C | p.Val299Val | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 10/106 | 1036/15400 | 897/15117 | 299/5038 | chr19 | 38448451 | ||
| chr19:38448460
|
C | T | 2 | a0019c0080a0020c0081 | 2 | HG02647.hp2 NA19030.hp2 |
synonymous_variant | LOW | c.906C>T | p.Asp302Asp | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 10/106 | 1045/15400 | 906/15117 | 302/5038 | chr19 | 38448460 | ||
| chr19:38448768
|
T | C | 109 | a0001c0001a0001c0002a0001c0003others(106): Show | 194 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(191): Show |
synonymous_variant | LOW | c.1077T>C | p.Ala359Ala | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 11/106 | 1216/15400 | 1077/15117 | 359/5038 | chr19 | 38448768 | ||
| chr19:38455542
|
G | A | 55 | a0001c0001a0001c0002a0001c0009others(52): Show | 117 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(114): Show |
synonymous_variant | LOW | c.1668G>A | p.Ser556Ser | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 15/106 | 1807/15400 | 1668/15117 | 556/5038 | chr19 | 38455542 | ||
| chr19:38457628
|
C | G | 1 | a0001c0071 | 1 | HG03130.hp1 | splice_region_variant&synonymous_variant | LOW | c.1923C>G | p.Thr641Thr | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 17/106 | 2062/15400 | 1923/15117 | 641/5038 | chr19 | 38457628 | ||
| chr19:38458129
|
C | T | 1 | a0001c0114 | 1 | HG02155.hp1 | synonymous_variant | LOW | c.2004C>T | p.Asp668Asp | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 18/106 | 2143/15400 | 2004/15117 | 668/5038 | chr19 | 38458129 | ||
| chr19:38459219
|
G | A | 3 | a0007c0037a0007c0038a0007c0039 | 3 | HG03453.hp1 HG03471.hp1 HG03471.hp2 |
synonymous_variant | LOW | c.2241G>A | p.Leu747Leu | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 19/106 | 2380/15400 | 2241/15117 | 747/5038 | chr19 | 38459219 | ||
| chr19:38459264
|
C | T | 51 | a0001c0001a0001c0002a0001c0009others(48): Show | 112 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(109): Show |
synonymous_variant | LOW | c.2286C>T | p.Pro762Pro | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 19/106 | 2425/15400 | 2286/15117 | 762/5038 | chr19 | 38459264 | ||
| chr19:38466163
|
G | A | 54 | a0001c0001a0001c0002a0001c0003others(51): Show | 117 | HG00438.hp2 HG00609.hp1 HG00609.hp2 others(114): Show |
synonymous_variant | LOW | c.2943G>A | p.Thr981Thr | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 24/106 | 3082/15400 | 2943/15117 | 981/5038 | chr19 | 38466163 | ||
| chr19:38466199
|
C | T | 29 | a0001c0004a0001c0009a0001c0018others(26): Show | 41 | HG00438.hp1 HG00639.hp2 HG00735.hp2 others(38): Show |
synonymous_variant | LOW | c.2979C>T | p.Asn993Asn | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 24/106 | 3118/15400 | 2979/15117 | 993/5038 | chr19 | 38466199 | ||
| chr19:38466262
|
G | A | 2 | a0015c0086a0017c0041 | 2 | HG03209.hp1 NA19043.hp1 |
synonymous_variant | LOW | c.3042G>A | p.Ala1014Ala | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 24/106 | 3181/15400 | 3042/15117 | 1014/5038 | chr19 | 38466262 | ||
| chr19:38469040
|
C | T | 68 | a0001c0004a0001c0005a0001c0009others(65): Show | 100 | HG00438.hp1 HG00639.hp2 HG00733.hp2 others(97): Show |
synonymous_variant | LOW | c.3456C>T | p.Ile1152Ile | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 26/106 | 3595/15400 | 3456/15117 | 1152/5038 | chr19 | 38469040 | ||
| chr19:38469139
|
C | T | 1 | a0001c0070 | 1 | HG02622.hp1 | splice_region_variant&synonymous_variant | LOW | c.3555C>T | p.Asp1185Asp | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 26/106 | 3694/15400 | 3555/15117 | 1185/5038 | chr19 | 38469139 | ||
| chr19:38473469
|
T | C | 13 | a0004c0015a0004c0047a0004c0072others(10): Show | 17 | HG01109.hp1 HG01884.hp1 HG02615.hp2 others(14): Show |
synonymous_variant | LOW | c.3858T>C | p.Leu1286Leu | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 28/106 | 3997/15400 | 3858/15117 | 1286/5038 | chr19 | 38473469 | ||
| chr19:38473487
|
C | A | 2 | a0019c0080a0020c0081 | 2 | HG02647.hp2 NA19030.hp2 |
synonymous_variant | LOW | c.3876C>A | p.Leu1292Leu | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 28/106 | 4015/15400 | 3876/15117 | 1292/5038 | chr19 | 38473487 | ||
| chr19:38473583
|
G | A | 1 | a0028c0087 | 1 | HG03516.hp1 | synonymous_variant | LOW | c.3972G>A | p.Ala1324Ala | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 28/106 | 4111/15400 | 3972/15117 | 1324/5038 | chr19 | 38473583 | ||
| chr19:38473682
|
C | T | 3 | a0001c0059a0001c0110a0023c0109 | 3 | HG02647.hp1 NA18522.hp2 NA20300.hp2 |
synonymous_variant | LOW | c.4071C>T | p.Pro1357Pro | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 28/106 | 4210/15400 | 4071/15117 | 1357/5038 | chr19 | 38473682 | ||
| chr19:38473718
|
C | T | 7 | a0001c0011a0001c0020a0001c0056others(4): Show | 10 | HG02109.hp2 HG02257.hp1 HG02559.hp2 others(7): Show |
synonymous_variant | LOW | c.4107C>T | p.Pro1369Pro | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 28/106 | 4246/15400 | 4107/15117 | 1369/5038 | chr19 | 38473718 | ||
| chr19:38477859
|
C | T | 1 | a0001c0105 | 1 | HG01175.hp2 | synonymous_variant | LOW | c.4443C>T | p.Asn1481Asn | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 30/106 | 4582/15400 | 4443/15117 | 1481/5038 | chr19 | 38477859 | ||
| chr19:38483301
|
G | A | 3 | a0007c0037a0007c0038a0007c0039 | 3 | HG03453.hp1 HG03471.hp1 HG03471.hp2 |
synonymous_variant | LOW | c.4719G>A | p.Pro1573Pro | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 33/106 | 4858/15400 | 4719/15117 | 1573/5038 | chr19 | 38483301 | ||
| chr19:38483340
|
G | A | 1 | a0005c0088 | 1 | HG04204.hp1 | synonymous_variant | LOW | c.4758G>A | p.Pro1586Pro | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 33/106 | 4897/15400 | 4758/15117 | 1586/5038 | chr19 | 38483340 | ||
| chr19:38485692
|
C | G | 2 | a0001c0054a0001c0055 | 2 | HG02630.hp2 NA19240.hp1 |
synonymous_variant | LOW | c.5037C>G | p.Arg1679Arg | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/106 | 5176/15400 | 5037/15117 | 1679/5038 | chr19 | 38485692 | ||
| chr19:38485767
|
C | T | 7 | a0001c0011a0001c0020a0001c0056others(4): Show | 10 | HG02109.hp2 HG02257.hp1 HG02559.hp2 others(7): Show |
synonymous_variant | LOW | c.5112C>T | p.Gly1704Gly | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/106 | 5251/15400 | 5112/15117 | 1704/5038 | chr19 | 38485767 | ||
| chr19:38485989
|
G | T | 17 | a0001c0011a0001c0020a0001c0055others(14): Show | 22 | HG01109.hp1 HG01884.hp1 HG02109.hp2 others(19): Show |
synonymous_variant | LOW | c.5334G>T | p.Ser1778Ser | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/106 | 5473/15400 | 5334/15117 | 1778/5038 | chr19 | 38485989 | ||
| chr19:38486148
|
G | T | 1 | a0008c0010 | 3 | HG02965.hp1 HG03139.hp1 NA20300.hp1 |
synonymous_variant | LOW | c.5493G>T | p.Gly1831Gly | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/106 | 5632/15400 | 5493/15117 | 1831/5038 | chr19 | 38486148 | ||
| chr19:38489194
|
C | T | 1 | a0014c0073 | 1 | HG03041.hp1 | synonymous_variant | LOW | c.5565C>T | p.Gly1855Gly | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 35/106 | 5704/15400 | 5565/15117 | 1855/5038 | chr19 | 38489194 | ||
| chr19:38489251
|
A | G | 1 | a0001c0070 | 1 | HG02622.hp1 | synonymous_variant | LOW | c.5622A>G | p.Glu1874Glu | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 35/106 | 5761/15400 | 5622/15117 | 1874/5038 | chr19 | 38489251 | ||
| chr19:38490644
|
A | G | 12 | a0001c0005a0001c0033a0002c0008others(9): Show | 23 | HG00733.hp2 HG01099.hp2 HG01123.hp1 others(20): Show |
synonymous_variant | LOW | c.6039A>G | p.Lys2013Lys | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 37/106 | 6178/15400 | 6039/15117 | 2013/5038 | chr19 | 38490644 | ||
| chr19:38494461
|
C | T | 1 | a0023c0109 | 1 | NA18522.hp2 | synonymous_variant | LOW | c.6384C>T | p.Tyr2128Tyr | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 39/106 | 6523/15400 | 6384/15117 | 2128/5038 | chr19 | 38494461 | ||
| chr19:38494464
|
C | T | 1 | a0001c0102 | 1 | HG02083.hp1 | synonymous_variant | LOW | c.6387C>T | p.Asp2129Asp | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 39/106 | 6526/15400 | 6387/15117 | 2129/5038 | chr19 | 38494464 | ||
| chr19:38494575
|
C | T | 3 | a0004c0072a0015c0086a0017c0041 | 3 | HG01109.hp1 HG03209.hp1 NA19043.hp1 |
synonymous_variant | LOW | c.6498C>T | p.Leu2166Leu | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 39/106 | 6637/15400 | 6498/15117 | 2166/5038 | chr19 | 38494575 | ||
| chr19:38496251
|
G | A | 2 | a0007c0037a0007c0038 | 2 | HG03453.hp1 HG03471.hp2 |
synonymous_variant | LOW | c.6585G>A | p.Pro2195Pro | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 40/106 | 6724/15400 | 6585/15117 | 2195/5038 | chr19 | 38496251 | ||
| chr19:38496477
|
G | A | 1 | a0001c0071 | 1 | HG03130.hp1 | synonymous_variant | LOW | c.6732G>A | p.Arg2244Arg | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 41/106 | 6871/15400 | 6732/15117 | 2244/5038 | chr19 | 38496477 | ||
| chr19:38499696
|
C | T | 16 | a0001c0009a0001c0018a0001c0023others(13): Show | 24 | HG00438.hp1 HG00621.hp2 HG00639.hp1 others(21): Show |
synonymous_variant | LOW | c.7089C>T | p.Cys2363Cys | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 44/106 | 7228/15400 | 7089/15117 | 2363/5038 | chr19 | 38499696 | ||
| chr19:38499705
|
C | T | 25 | a0001c0009a0001c0011a0001c0018others(22): Show | 37 | HG00438.hp1 HG00621.hp2 HG00639.hp1 others(34): Show |
synonymous_variant | LOW | c.7098C>T | p.Pro2366Pro | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 44/106 | 7237/15400 | 7098/15117 | 2366/5038 | chr19 | 38499705 | ||
| chr19:38499816
|
C | T | 5 | a0001c0002a0001c0017a0001c0099others(2): Show | 17 | HG00609.hp2 HG02027.hp2 HG02056.hp2 others(14): Show |
synonymous_variant | LOW | c.7209C>T | p.Arg2403Arg | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 44/106 | 7348/15400 | 7209/15117 | 2403/5038 | chr19 | 38499816 | ||
| chr19:38499953
|
C | T | 3 | a0001c0027a0001c0067a0001c0068 | 4 | HG01169.hp1 HG01975.hp2 HG01981.hp1 others(1): Show |
synonymous_variant | LOW | c.7260C>T | p.His2420His | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 45/106 | 7399/15400 | 7260/15117 | 2420/5038 | chr19 | 38499953 | ||
| chr19:38499974
|
C | T | 5 | a0001c0013a0001c0066a0001c0098others(2): Show | 7 | HG00438.hp2 HG00621.hp1 HG01123.hp2 others(4): Show |
synonymous_variant | LOW | c.7281C>T | p.Ala2427Ala | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 45/106 | 7420/15400 | 7281/15117 | 2427/5038 | chr19 | 38499974 | ||
| chr19:38500876
|
G | A | 22 | a0001c0014a0001c0019a0001c0022others(19): Show | 33 | HG00639.hp2 HG00735.hp2 HG01070.hp1 others(30): Show |
synonymous_variant | LOW | c.7500G>A | p.Ala2500Ala | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 47/106 | 7639/15400 | 7500/15117 | 2500/5038 | chr19 | 38500876 | ||
| chr19:38500903
|
G | A | 21 | a0001c0014a0001c0019a0001c0022others(18): Show | 29 | HG00639.hp2 HG00735.hp2 HG01070.hp1 others(26): Show |
synonymous_variant | LOW | c.7527G>A | p.Val2509Val | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 47/106 | 7666/15400 | 7527/15117 | 2509/5038 | chr19 | 38500903 | ||
| chr19:38500960
|
C | T | 7 | a0001c0013a0001c0066a0001c0071others(4): Show | 9 | HG00438.hp2 HG00621.hp1 HG01123.hp2 others(6): Show |
synonymous_variant | LOW | c.7584C>T | p.Pro2528Pro | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 47/106 | 7723/15400 | 7584/15117 | 2528/5038 | chr19 | 38500960 | ||
| chr19:38502680
|
C | T | 1 | a0001c0102 | 1 | HG02083.hp1 | synonymous_variant | LOW | c.7788C>T | p.Thr2596Thr | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/106 | 7927/15400 | 7788/15117 | 2596/5038 | chr19 | 38502680 | ||
| chr19:38502907
|
C | T | 38 | a0001c0009a0001c0014a0001c0018others(35): Show | 55 | HG00438.hp1 HG00621.hp2 HG00639.hp1 others(52): Show |
synonymous_variant | LOW | c.7863C>T | p.His2621His | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 49/106 | 8002/15400 | 7863/15117 | 2621/5038 | chr19 | 38502907 | ||
| chr19:38502916
|
C | T | 35 | a0001c0005a0001c0011a0001c0020others(32): Show | 56 | HG00609.hp1 HG00733.hp2 HG01099.hp2 others(53): Show |
synonymous_variant | LOW | c.7872C>T | p.Arg2624Arg | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 49/106 | 8011/15400 | 7872/15117 | 2624/5038 | chr19 | 38502916 | ||
| chr19:38504270
|
G | A | 72 | a0001c0005a0001c0009a0001c0011others(69): Show | 110 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(107): Show |
synonymous_variant | LOW | c.7977G>A | p.Thr2659Thr | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 50/106 | 8116/15400 | 7977/15117 | 2659/5038 | chr19 | 38504270 | ||
| chr19:38504798
|
T | C | 74 | a0001c0005a0001c0009a0001c0011others(71): Show | 112 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(109): Show |
synonymous_variant | LOW | c.8118T>C | p.Ile2706Ile | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 51/106 | 8257/15400 | 8118/15117 | 2706/5038 | chr19 | 38504798 | ||
| chr19:38504870
|
T | C | 74 | a0001c0005a0001c0009a0001c0011others(71): Show | 112 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(109): Show |
synonymous_variant | LOW | c.8190T>C | p.Asp2730Asp | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 51/106 | 8329/15400 | 8190/15117 | 2730/5038 | chr19 | 38504870 | ||
| chr19:38505335
|
G | A | 71 | a0001c0005a0001c0009a0001c0011others(68): Show | 109 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(106): Show |
synonymous_variant | LOW | c.8337G>A | p.Glu2779Glu | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 53/106 | 8476/15400 | 8337/15117 | 2779/5038 | chr19 | 38505335 | ||
| chr19:38505359
|
C | T | 1 | a0001c0054 | 1 | HG02630.hp2 | synonymous_variant | LOW | c.8361C>T | p.Thr2787Thr | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 53/106 | 8500/15400 | 8361/15117 | 2787/5038 | chr19 | 38505359 | ||
| chr19:38506350
|
T | C | 71 | a0001c0005a0001c0009a0001c0011others(68): Show | 109 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(106): Show |
synonymous_variant | LOW | c.8589T>C | p.Ser2863Ser | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 55/106 | 8728/15400 | 8589/15117 | 2863/5038 | chr19 | 38506350 | ||
| chr19:38506854
|
C | T | 1 | a0007c0039 | 1 | HG03471.hp1 | synonymous_variant | LOW | c.8718C>T | p.Val2906Val | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 57/106 | 8857/15400 | 8718/15117 | 2906/5038 | chr19 | 38506854 | ||
| chr19:38510514
|
T | C | 1 | a0023c0109 | 1 | NA18522.hp2 | synonymous_variant | LOW | c.8949T>C | p.Ser2983Ser | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 59/106 | 9088/15400 | 8949/15117 | 2983/5038 | chr19 | 38510514 | ||
| chr19:38512085
|
A | G | 71 | a0001c0005a0001c0009a0001c0011others(68): Show | 109 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(106): Show |
synonymous_variant | LOW | c.9186A>G | p.Pro3062Pro | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 62/106 | 9325/15400 | 9186/15117 | 3062/5038 | chr19 | 38512085 | ||
| chr19:38512425
|
G | A | 2 | a0001c0071a0015c0086 | 2 | HG03130.hp1 HG03209.hp1 |
synonymous_variant | LOW | c.9414G>A | p.Pro3138Pro | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 63/106 | 9553/15400 | 9414/15117 | 3138/5038 | chr19 | 38512425 | ||
| chr19:38515030
|
C | T | 1 | a0009c0103 | 1 | NA19004.hp2 | synonymous_variant | LOW | c.9477C>T | p.Asp3159Asp | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 64/106 | 9616/15400 | 9477/15117 | 3159/5038 | chr19 | 38515030 | ||
| chr19:38517363
|
G | A | 19 | a0001c0005a0001c0023a0001c0028others(16): Show | 31 | HG00438.hp1 HG00621.hp2 HG00733.hp2 others(28): Show |
synonymous_variant | LOW | c.9690G>A | p.Leu3230Leu | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 66/106 | 9829/15400 | 9690/15117 | 3230/5038 | chr19 | 38517363 | ||
| chr19:38517444
|
C | T | 1 | a0018c0083 | 1 | HG03130.hp2 | synonymous_variant | LOW | c.9771C>T | p.Ala3257Ala | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 66/106 | 9910/15400 | 9771/15117 | 3257/5038 | chr19 | 38517444 | ||
| chr19:38517555
|
C | T | 2 | a0019c0080a0020c0081 | 2 | HG02647.hp2 NA19030.hp2 |
synonymous_variant | LOW | c.9882C>T | p.Ser3294Ser | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 66/106 | 10021/15400 | 9882/15117 | 3294/5038 | chr19 | 38517555 | ||
| chr19:38519383
|
C | T | 4 | a0001c0009a0001c0018a0001c0101others(1): Show | 7 | HG00639.hp1 HG01255.hp2 HG01257.hp2 others(4): Show |
synonymous_variant | LOW | c.10188C>T | p.Asp3396Asp | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/106 | 10327/15400 | 10188/15117 | 3396/5038 | chr19 | 38519383 | ||
| chr19:38519413
|
C | T | 16 | a0001c0019a0001c0022a0001c0029others(13): Show | 21 | HG01070.hp1 HG01175.hp2 HG01243.hp2 others(18): Show |
synonymous_variant | LOW | c.10218C>T | p.Tyr3406Tyr | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/106 | 10357/15400 | 10218/15117 | 3406/5038 | chr19 | 38519413 | ||
| chr19:38536027
|
G | A | 1 | a0002c0079 | 1 | HG01243.hp1 | synonymous_variant | LOW | c.11547G>A | p.Gln3849Gln | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 82/106 | 11686/15400 | 11547/15117 | 3849/5038 | chr19 | 38536027 | ||
| chr19:38537896
|
G | A | 1 | a0006c0007 | 4 | HG01891.hp1 HG02257.hp2 HG03098.hp1 others(1): Show |
synonymous_variant | LOW | c.11625G>A | p.Ala3875Ala | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/106 | 11764/15400 | 11625/15117 | 3875/5038 | chr19 | 38537896 | ||
| chr19:38543411
|
T | A | 7 | a0003c0006a0003c0050a0003c0051others(4): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
synonymous_variant | LOW | c.11754T>A | p.Thr3918Thr | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 85/106 | 11893/15400 | 11754/15117 | 3918/5038 | chr19 | 38543411 | ||
| chr19:38561418
|
C | T | 1 | a0004c0015 | 3 | HG01884.hp1 HG02615.hp2 NA19043.hp2 |
synonymous_variant | LOW | c.12588C>T | p.Ile4196Ile | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/106 | 12727/15400 | 12588/15117 | 4196/5038 | chr19 | 38561418 | ||
| chr19:38565075
|
C | T | 1 | a0028c0087 | 1 | HG03516.hp1 | synonymous_variant | LOW | c.12741C>T | p.Ala4247Ala | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 91/106 | 12880/15400 | 12741/15117 | 4247/5038 | chr19 | 38565075 | ||
| chr19:38565201
|
G | A | 1 | a0001c0110 | 1 | NA20300.hp2 | synonymous_variant | LOW | c.12867G>A | p.Ala4289Ala | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 91/106 | 13006/15400 | 12867/15117 | 4289/5038 | chr19 | 38565201 | ||
| chr19:38565324
|
C | T | 1 | a0028c0087 | 1 | HG03516.hp1 | synonymous_variant | LOW | c.12990C>T | p.Thr4330Thr | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 91/106 | 13129/15400 | 12990/15117 | 4330/5038 | chr19 | 38565324 | ||
| chr19:38565507
|
G | C | 1 | a0001c0098 | 1 | HG01123.hp2 | synonymous_variant | LOW | c.13173G>C | p.Val4391Val | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 91/106 | 13312/15400 | 13173/15117 | 4391/5038 | chr19 | 38565507 | ||
| chr19:38565624
|
G | T | 1 | a0001c0026 | 2 | HG01256.hp2 HG01258.hp1 |
synonymous_variant | LOW | c.13290G>T | p.Gly4430Gly | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 91/106 | 13429/15400 | 13290/15117 | 4430/5038 | chr19 | 38565624 | ||
| chr19:38565651
|
C | T | 5 | a0001c0009a0001c0018a0001c0045others(2): Show | 8 | HG00639.hp1 HG01255.hp2 HG01257.hp2 others(5): Show |
synonymous_variant | LOW | c.13317C>T | p.Ala4439Ala | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 91/106 | 13456/15400 | 13317/15117 | 4439/5038 | chr19 | 38565651 | ||
| chr19:38566937
|
G | A | 1 | a0001c0090 | 1 | HG01884.hp2 | synonymous_variant | LOW | c.13464G>A | p.Pro4488Pro | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 92/106 | 13603/15400 | 13464/15117 | 4488/5038 | chr19 | 38566937 | ||
| chr19:38566976
|
G | A | 6 | a0001c0011a0001c0055a0001c0068others(3): Show | 8 | HG00642.hp2 HG02622.hp1 HG02922.hp1 others(5): Show |
synonymous_variant | LOW | c.13503G>A | p.Pro4501Pro | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 92/106 | 13642/15400 | 13503/15117 | 4501/5038 | chr19 | 38566976 | ||
| chr19:38567875
|
C | T | 1 | a0001c0091 | 1 | NA19010.hp1 | synonymous_variant | LOW | c.13617C>T | p.Gly4539Gly | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 93/106 | 13756/15400 | 13617/15117 | 4539/5038 | chr19 | 38567875 | ||
| chr19:38567908
|
G | C | 1 | a0001c0044 | 1 | HG01099.hp1 | synonymous_variant | LOW | c.13650G>C | p.Val4550Val | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 93/106 | 13789/15400 | 13650/15117 | 4550/5038 | chr19 | 38567908 | ||
| chr19:38570618
|
C | G | 5 | a0001c0009a0001c0018a0001c0045others(2): Show | 8 | HG00639.hp1 HG01255.hp2 HG01257.hp2 others(5): Show |
synonymous_variant | LOW | c.13671C>G | p.Ser4557Ser | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 94/106 | 13810/15400 | 13671/15117 | 4557/5038 | chr19 | 38570618 | ||
| chr19:38573182
|
C | T | 1 | a0001c0056 | 1 | HG02559.hp2 | synonymous_variant | LOW | c.14004C>T | p.Pro4668Pro | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 96/106 | 14143/15400 | 14004/15117 | 4668/5038 | chr19 | 38573182 | ||
| chr19:38578001
|
A | C | 30 | a0001c0009a0001c0035a0001c0055others(27): Show | 45 | HG00609.hp1 HG01071.hp2 HG01109.hp1 others(42): Show |
synonymous_variant | LOW | c.14256A>C | p.Thr4752Thr | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 98/106 | 14395/15400 | 14256/15117 | 4752/5038 | chr19 | 38578001 | ||
| chr19:38578156
|
C | T | 1 | a0003c0051 | 1 | NA19068.hp2 | synonymous_variant | LOW | c.14316C>T | p.Ile4772Ile | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 99/106 | 14455/15400 | 14316/15117 | 4772/5038 | chr19 | 38578156 | ||
| chr19:38580122
|
G | A | 1 | a0001c0062 | 1 | HG00735.hp2 | synonymous_variant | LOW | c.14505G>A | p.Gly4835Gly | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 100/106 | 14644/15400 | 14505/15117 | 4835/5038 | chr19 | 38580122 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr19:38433722
|
T | C | 12 | a0001c0003t0002a0001c0019t0002a0001c0068t0002others(9): Show | 17 | HG01891.hp1 HG02257.hp2 HG02615.hp1 others(14): Show |
5_prime_UTR_variant | MODIFIER | c.-108T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/106 | 108 | chr19 | 38433722 | |||||
| chr19:38433728
|
C | T | 4 | a0001c0049t0003a0001c0052t0003a0003c0050t0003others(1): Show | 4 | HG02080.hp2 NA18980.hp2 NA18983.hp2 others(1): Show |
5_prime_UTR_variant | MODIFIER | c.-102C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/106 | 102 | chr19 | 38433728 | |||||
| chr19:38433741
|
CCCCAGCC others(17): Show |
C | 1 | a0004c0115t0004 | 1 | HG02630.hp1 | 5_prime_UTR_variant | MODIFIER | c.-78_-55delCCCCAGCC others(16): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/106 | 55 | INFO_REALIGN_3_PRIME | chr19 | 38433741 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr19:38433995
|
A | G | 17 | a0001c0003t0002g0206a0001c0003t0002g0207a0001c0019t0002g0217others(14): Show | 17 | HG01891.hp1 HG02257.hp2 HG02615.hp1 others(14): Show |
intron_variant | MODIFIER | c.45+121A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38433995 | ||||||
| chr19:38434174
|
T | C | 158 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(155): Show | 158 | HG00438.hp2 HG00609.hp2 HG00621.hp1 others(155): Show |
intron_variant | MODIFIER | c.45+300T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38434174 | ||||||
| chr19:38434239
|
C | G | 2 | a0001c0019t0002g0217a0001c0019t0002g0218 | 2 | HG03942.hp1 NA19067.hp1 |
intron_variant | MODIFIER | c.45+365C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38434239 | ||||||
| chr19:38434356
|
T | C | 26 | a0001c0003t0002g0206a0001c0003t0002g0207a0001c0011t0001g0003others(23): Show | 26 | HG01891.hp1 HG02257.hp2 HG02615.hp1 others(23): Show |
intron_variant | MODIFIER | c.45+482T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38434356 | ||||||
| chr19:38434476
|
T | C | 1 | a0001c0045t0001g0009 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.45+602T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38434476 | ||||||
| chr19:38434612
|
G | T | 1 | a0001c0002t0001g0141 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.45+738G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38434612 | ||||||
| chr19:38434713
|
C | T | 3 | a0008c0010t0001g0006a0008c0010t0001g0007a0008c0010t0001g0008 | 3 | HG02965.hp1 HG03139.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.45+839C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38434713 | ||||||
| chr19:38434729
|
C | A | 1 | a0004c0115t0004g0216 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.45+855C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38434729 | ||||||
| chr19:38435028
|
G | A | 2 | a0006c0007t0002g0202a0006c0007t0002g0203 | 2 | HG01891.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.45+1154G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38435028 | ||||||
| chr19:38435075
|
G | A | 10 | a0001c0001t0001g0145a0001c0001t0001g0147a0001c0001t0001g0148others(7): Show | 10 | HG01071.hp2 HG01169.hp2 HG01943.hp1 others(7): Show |
intron_variant | MODIFIER | c.45+1201G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38435075 | ||||||
| chr19:38435260
|
G | A | 5 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(2): Show | 5 | HG00733.hp1 HG01106.hp1 HG01257.hp1 others(2): Show |
intron_variant | MODIFIER | c.45+1386G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38435260 | ||||||
| chr19:38435346
|
C | T | 3 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201 | 3 | HG02735.hp2 HG03490.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.45+1472C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38435346 | ||||||
| chr19:38435347
|
G | A | 15 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0018others(12): Show | 15 | HG01884.hp2 HG01891.hp2 HG02109.hp1 others(12): Show |
intron_variant | MODIFIER | c.45+1473G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38435347 | ||||||
| chr19:38435814
|
ATAGACAT others(3): Show |
A | 1 | a0001c0027t0001g0030 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.45+1943_45+1952del others(10): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | INFO_REALIGN_3_PRIME | chr19 | 38435814 | |||||
| chr19:38435948
|
GCCCAGAC others(3294): Show |
G | 1 | a0007c0039t0001g0031 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.45+2093_46-1478del | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | INFO_REALIGN_3_PRIME | chr19 | 38435948 | |||||
| chr19:38435996
|
C | G | 4 | a0006c0007t0002g0212a0006c0007t0002g0213a0007c0037t0002g0214others(1): Show | 4 | HG02257.hp2 HG03453.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.45+2122C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38435996 | ||||||
| chr19:38436053
|
C | T | 1 | a0001c0111t0001g0140 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.45+2179C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38436053 | ||||||
| chr19:38436114
|
TG | T | 3 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0090t0001g0017 | 3 | HG01884.hp2 HG02622.hp2 HG02723.hp2 |
intron_variant | MODIFIER | c.45+2242delG | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | INFO_REALIGN_3_PRIME | chr19 | 38436114 | |||||
| chr19:38436230
|
A | G | 2 | a0001c0019t0002g0217a0001c0019t0002g0218 | 2 | HG03942.hp1 NA19067.hp1 |
intron_variant | MODIFIER | c.45+2356A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38436230 | ||||||
| chr19:38436504
|
C | T | 1 | a0001c0069t0001g0139 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.45+2630C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38436504 | ||||||
| chr19:38436676
|
A | G | 168 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(165): Show | 168 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(165): Show |
intron_variant | MODIFIER | c.45+2802A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38436676 | ||||||
| chr19:38436871
|
T | A | 6 | a0004c0047t0002g0205a0006c0007t0002g0212a0006c0007t0002g0213others(3): Show | 6 | HG02257.hp2 HG03453.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.45+2997T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38436871 | ||||||
| chr19:38436875
|
C | T | 2 | a0019c0080t0001g0142a0020c0081t0001g0143 | 2 | HG02647.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.45+3001C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38436875 | ||||||
| chr19:38437031
|
C | T | 1 | a0001c0034t0001g0180 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.45+3157C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38437031 | ||||||
| chr19:38437074
|
G | A | 4 | a0001c0049t0003g0033a0001c0052t0003g0034a0003c0050t0003g0035others(1): Show | 4 | HG02080.hp2 NA18980.hp2 NA18983.hp2 others(1): Show |
intron_variant | MODIFIER | c.45+3200G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38437074 | ||||||
| chr19:38437321
|
G | A | 80 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(77): Show | 80 | HG00438.hp2 HG00609.hp2 HG00639.hp1 others(77): Show |
intron_variant | MODIFIER | c.46-3424G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38437321 | ||||||
| chr19:38437590
|
C | T | 2 | a0006c0007t0002g0202a0006c0007t0002g0203 | 2 | HG01891.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.46-3155C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38437590 | ||||||
| chr19:38437649
|
T | C | 2 | a0019c0080t0001g0142a0020c0081t0001g0143 | 2 | HG02647.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.46-3096T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38437649 | ||||||
| chr19:38437795
|
A | C | 3 | a0001c0108t0001g0138a0004c0084t0002g0210a0018c0083t0002g0211 | 3 | HG02922.hp2 HG03130.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.46-2950A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38437795 | ||||||
| chr19:38437988
|
T | TA | 81 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(78): Show | 81 | HG00438.hp2 HG00609.hp2 HG00639.hp1 others(78): Show |
intron_variant | MODIFIER | c.46-2742dupA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | INFO_REALIGN_3_PRIME | chr19 | 38437988 | |||||
| chr19:38437988
|
TA | T | 33 | a0001c0002t0001g0194a0001c0005t0001g0179a0001c0019t0002g0217others(30): Show | 33 | HG00438.hp1 HG00609.hp1 HG00642.hp2 others(30): Show |
intron_variant | MODIFIER | c.46-2742delA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | INFO_REALIGN_3_PRIME | chr19 | 38437988 | |||||
| chr19:38438071
|
T | C | 2 | a0006c0007t0002g0202a0006c0007t0002g0203 | 2 | HG01891.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.46-2674T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38438071 | ||||||
| chr19:38438259
|
AG | A | 2 | a0004c0047t0002g0205a0029c0057t0002g0204 | 2 | HG03579.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.46-2485delG | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38438259 | ||||||
| chr19:38438292
|
TC | T | 2 | a0010c0021t0001g0177a0010c0021t0001g0178 | 2 | HG03017.hp2 HG03710.hp2 |
intron_variant | MODIFIER | c.46-2452delC | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38438292 | ||||||
| chr19:38438387
|
A | AT | 10 | a0001c0001t0001g0018a0001c0001t0001g0037a0001c0001t0001g0038others(7): Show | 10 | HG00639.hp1 HG00642.hp1 HG00733.hp2 others(7): Show |
intron_variant | MODIFIER | c.46-2346dupT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | INFO_REALIGN_3_PRIME | chr19 | 38438387 | |||||
| chr19:38438387
|
A | ATT | 113 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(110): Show | 113 | HG00438.hp2 HG00609.hp2 HG00621.hp1 others(110): Show |
intron_variant | MODIFIER | c.46-2347_46-2346dup others(2): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | INFO_REALIGN_3_PRIME | chr19 | 38438387 | |||||
| chr19:38438402
|
T | G | 14 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(11): Show | 14 | HG00733.hp2 HG01099.hp2 HG01123.hp1 others(11): Show |
intron_variant | MODIFIER | c.46-2343T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38438402 | ||||||
| chr19:38438420
|
A | G | 2 | a0006c0007t0002g0202a0006c0007t0002g0203 | 2 | HG01891.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.46-2325A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38438420 | ||||||
| chr19:38438475
|
G | A | 1 | a0002c0025t0001g0162 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.46-2270G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38438475 | ||||||
| chr19:38438517
|
T | C | 2 | a0001c0049t0003g0033a0001c0052t0003g0034 | 2 | HG02080.hp2 NA18980.hp2 |
intron_variant | MODIFIER | c.46-2228T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38438517 | ||||||
| chr19:38438616
|
C | CT | 118 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(115): Show | 118 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(115): Show |
intron_variant | MODIFIER | c.46-2109dupT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | INFO_REALIGN_3_PRIME | chr19 | 38438616 | |||||
| chr19:38438616
|
C | CTT | 22 | a0001c0001t0001g0145a0001c0001t0001g0147a0001c0001t0001g0148others(19): Show | 22 | HG01071.hp2 HG01169.hp2 HG01175.hp2 others(19): Show |
intron_variant | MODIFIER | c.46-2110_46-2109dup others(2): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | INFO_REALIGN_3_PRIME | chr19 | 38438616 | |||||
| chr19:38438616
|
C | CTTTTTT | 31 | a0001c0002t0001g0095a0001c0002t0001g0124a0001c0003t0001g0100others(28): Show | 31 | HG00621.hp1 HG00735.hp1 HG01070.hp1 others(28): Show |
intron_variant | MODIFIER | c.46-2114_46-2109dup others(6): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | INFO_REALIGN_3_PRIME | chr19 | 38438616 | |||||
| chr19:38438616
|
C | CTTTTTTT | 9 | a0001c0002t0001g0133a0001c0004t0001g0096a0001c0017t0001g0129others(6): Show | 9 | HG00621.hp2 HG01175.hp1 HG03942.hp2 others(6): Show |
intron_variant | MODIFIER | c.46-2115_46-2109dup others(7): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | INFO_REALIGN_3_PRIME | chr19 | 38438616 | |||||
| chr19:38438649
|
C | G | 1 | a0026c0046t0001g0127 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.46-2096C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38438649 | ||||||
| chr19:38438665
|
C | T | 1 | a0001c0011t0001g0005 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.46-2080C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38438665 | ||||||
| chr19:38438704
|
C | T | 1 | a0001c0020t0001g0197 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.46-2041C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38438704 | ||||||
| chr19:38438865
|
A | G | 3 | a0001c0001t0001g0029a0006c0007t0002g0202a0006c0007t0002g0203 | 3 | HG01891.hp1 HG03098.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.46-1880A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38438865 | ||||||
| chr19:38438904
|
C | T | 12 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0054t0001g0136others(9): Show | 12 | HG02257.hp2 HG02630.hp1 HG02630.hp2 others(9): Show |
intron_variant | MODIFIER | c.46-1841C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38438904 | ||||||
| chr19:38438907
|
C | T | 8 | a0001c0002t0001g0194a0001c0085t0001g0198a0001c0095t0001g0190others(5): Show | 8 | HG00438.hp1 HG00609.hp1 HG02027.hp1 others(5): Show |
intron_variant | MODIFIER | c.46-1838C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38438907 | ||||||
| chr19:38439130
|
A | G | 2 | a0004c0084t0002g0210a0018c0083t0002g0211 | 2 | HG02922.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.46-1615A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38439130 | ||||||
| chr19:38439186
|
A | AT | 13 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0054t0001g0136others(10): Show | 13 | HG02257.hp2 HG02630.hp2 HG02970.hp1 others(10): Show |
intron_variant | MODIFIER | c.46-1548dupT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | INFO_REALIGN_3_PRIME | chr19 | 38439186 | |||||
| chr19:38439186
|
AT | A | 10 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(7): Show | 10 | HG00733.hp2 HG01123.hp1 HG01256.hp1 others(7): Show |
intron_variant | MODIFIER | c.46-1548delT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | INFO_REALIGN_3_PRIME | chr19 | 38439186 | |||||
| chr19:38439194
|
T | G | 9 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0003t0002g0206others(6): Show | 9 | HG02080.hp2 HG02615.hp1 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.46-1551T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38439194 | ||||||
| chr19:38439194
|
T | TG | 2 | a0004c0115t0004g0216a0029c0057t0002g0204 | 2 | HG02630.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.46-1551_46-1550ins others(1): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38439194 | ||||||
| chr19:38439212
|
A | G | 8 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(5): Show | 8 | HG01099.hp2 HG01257.hp2 HG01258.hp2 others(5): Show |
intron_variant | MODIFIER | c.46-1533A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38439212 | ||||||
| chr19:38439276
|
A | G | 200 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(197): Show | 200 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(197): Show |
intron_variant | MODIFIER | c.46-1469A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38439276 | ||||||
| chr19:38439435
|
G | A | 1 | a0002c0008t0001g0163 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.46-1310G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38439435 | ||||||
| chr19:38439658
|
C | T | 123 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(120): Show | 123 | HG00438.hp2 HG00609.hp2 HG00621.hp1 others(120): Show |
intron_variant | MODIFIER | c.46-1087C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38439658 | ||||||
| chr19:38439715
|
C | T | 4 | a0001c0049t0003g0033a0001c0052t0003g0034a0003c0050t0003g0035others(1): Show | 4 | HG02080.hp2 NA18980.hp2 NA18983.hp2 others(1): Show |
intron_variant | MODIFIER | c.46-1030C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38439715 | ||||||
| chr19:38439743
|
A | G | 1 | a0004c0115t0004g0216 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.46-1002A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38439743 | ||||||
| chr19:38439758
|
C | T | 1 | a0001c0001t0001g0088 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.46-987C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38439758 | ||||||
| chr19:38439855
|
A | G | 29 | a0001c0002t0001g0194a0001c0003t0002g0206a0001c0003t0002g0207others(26): Show | 29 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(26): Show |
intron_variant | MODIFIER | c.46-890A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38439855 | ||||||
| chr19:38439924
|
C | A | 1 | a0001c0076t0001g0164 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.46-821C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38439924 | ||||||
| chr19:38440140
|
G | C | 3 | a0001c0069t0001g0139a0004c0015t0001g0098a0016c0106t0001g0099 | 3 | HG02970.hp1 HG03139.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.46-605G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38440140 | ||||||
| chr19:38440359
|
C | T | 2 | a0006c0007t0002g0202a0006c0007t0002g0203 | 2 | HG01891.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.46-386C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38440359 | ||||||
| chr19:38440385
|
A | G | 1 | a0001c0001t0001g0094 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.46-360A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38440385 | ||||||
| chr19:38440662
|
G | C | 2 | a0003c0050t0003g0035a0003c0051t0003g0036 | 2 | NA18983.hp2 NA19068.hp2 |
intron_variant | MODIFIER | c.46-83G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 1/105 | chr19 | 38440662 | ||||||
| chr19:38440938
|
G | C | 9 | a0001c0002t0001g0194a0001c0028t0001g0182a0001c0085t0001g0198others(6): Show | 9 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(6): Show |
intron_variant | MODIFIER | c.165+74G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 2/105 | chr19 | 38440938 | ||||||
| chr19:38441033
|
G | A | 31 | a0001c0002t0001g0133a0001c0003t0001g0100a0001c0003t0001g0105others(28): Show | 31 | HG00621.hp1 HG00735.hp1 HG01070.hp1 others(28): Show |
intron_variant | MODIFIER | c.165+169G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 2/105 | chr19 | 38441033 | ||||||
| chr19:38441063
|
G | T | 1 | a0026c0046t0001g0127 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.165+199G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 2/105 | chr19 | 38441063 | ||||||
| chr19:38441269
|
A | AG | 12 | a0001c0001t0001g0094a0001c0003t0001g0100a0001c0003t0002g0206others(9): Show | 12 | HG01109.hp2 HG01175.hp2 HG01433.hp2 others(9): Show |
intron_variant | MODIFIER | c.165+412dupG | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 2/105 | INFO_REALIGN_3_PRIME | chr19 | 38441269 | |||||
| chr19:38441270
|
G | A | 1 | a0019c0080t0001g0142 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.165+406G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 2/105 | chr19 | 38441270 | ||||||
| chr19:38441342
|
G | A | 1 | a0007c0039t0001g0031 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.165+478G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 2/105 | chr19 | 38441342 | ||||||
| chr19:38441342
|
G | T | 155 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(152): Show | 155 | HG00438.hp1 HG00438.hp2 HG00609.hp2 others(152): Show |
intron_variant | MODIFIER | c.165+478G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 2/105 | chr19 | 38441342 | ||||||
| chr19:38441479
|
A | G | 3 | a0001c0004t0001g0096a0001c0004t0001g0119a0030c0048t0001g0118 | 3 | HG01070.hp1 HG01175.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.165+615A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 2/105 | chr19 | 38441479 | ||||||
| chr19:38441517
|
C | T | 6 | a0001c0002t0001g0194a0001c0028t0001g0182a0001c0085t0001g0198others(3): Show | 6 | HG00438.hp1 HG00621.hp2 HG02027.hp1 others(3): Show |
intron_variant | MODIFIER | c.165+653C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 2/105 | chr19 | 38441517 | ||||||
| chr19:38441573
|
C | T | 27 | a0001c0001t0001g0145a0001c0001t0001g0147a0001c0001t0001g0148others(24): Show | 27 | HG01071.hp2 HG01109.hp1 HG01169.hp2 others(24): Show |
intron_variant | MODIFIER | c.165+709C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 2/105 | chr19 | 38441573 | ||||||
| chr19:38441623
|
G | T | 12 | a0001c0003t0001g0116a0001c0044t0001g0048a0001c0062t0001g0050others(9): Show | 12 | HG00639.hp2 HG00642.hp2 HG00735.hp1 others(9): Show |
intron_variant | MODIFIER | c.166-726G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 2/105 | chr19 | 38441623 | ||||||
| chr19:38441643
|
ACTGGGGG others(18): Show |
A | 6 | a0001c0069t0001g0139a0001c0119t0001g0189a0004c0015t0001g0098others(3): Show | 6 | HG00642.hp2 HG01884.hp1 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.166-699_166-675del others(25): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 2/105 | INFO_REALIGN_3_PRIME | chr19 | 38441643 | |||||
| chr19:38441667
|
G | A | 8 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0014t0001g0004others(5): Show | 8 | HG02622.hp1 HG02897.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.166-682G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 2/105 | chr19 | 38441667 | ||||||
| chr19:38441739
|
G | C | 22 | a0001c0002t0001g0194a0001c0011t0001g0003a0001c0011t0001g0005others(19): Show | 22 | HG00438.hp1 HG00621.hp2 HG01891.hp1 others(19): Show |
intron_variant | MODIFIER | c.166-610G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 2/105 | chr19 | 38441739 | ||||||
| chr19:38441746
|
A | C | 91 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(88): Show | 91 | HG00438.hp2 HG00609.hp2 HG00621.hp1 others(88): Show |
intron_variant | MODIFIER | c.166-603A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 2/105 | chr19 | 38441746 | ||||||
| chr19:38441746
|
A | G | 22 | a0001c0002t0001g0194a0001c0011t0001g0003a0001c0011t0001g0005others(19): Show | 22 | HG00438.hp1 HG00621.hp2 HG01891.hp1 others(19): Show |
intron_variant | MODIFIER | c.166-603A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 2/105 | chr19 | 38441746 | ||||||
| chr19:38442186
|
G | C | 15 | a0001c0003t0001g0116a0001c0020t0001g0185a0001c0020t0001g0197others(12): Show | 15 | HG00735.hp1 HG01169.hp1 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.166-163G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 2/105 | chr19 | 38442186 | ||||||
| chr19:38442305
|
G | C | 8 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0014t0001g0004others(5): Show | 8 | HG02622.hp1 HG02897.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.166-44G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 2/105 | chr19 | 38442305 | ||||||
| chr19:38442480
|
G | A | 38 | a0001c0003t0001g0100a0001c0003t0001g0105a0001c0003t0001g0107others(35): Show | 38 | HG01070.hp1 HG01175.hp1 HG01978.hp2 others(35): Show |
intron_variant | MODIFIER | c.270+27G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 3/105 | chr19 | 38442480 | ||||||
| chr19:38442598
|
C | A | 1 | a0001c0030t0001g0055 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.270+145C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 3/105 | chr19 | 38442598 | ||||||
| chr19:38442632
|
G | A | 2 | a0001c0001t0001g0037a0001c0001t0001g0038 | 2 | HG01070.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.270+179G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 3/105 | chr19 | 38442632 | ||||||
| chr19:38442775
|
A | C | 18 | a0001c0002t0001g0194a0001c0003t0002g0206a0001c0003t0002g0207others(15): Show | 18 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(15): Show |
intron_variant | MODIFIER | c.270+322A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 3/105 | chr19 | 38442775 | ||||||
| chr19:38442814
|
C | T | 28 | a0001c0003t0001g0100a0001c0003t0001g0105a0001c0003t0001g0107others(25): Show | 28 | HG01070.hp1 HG01175.hp1 HG01978.hp2 others(25): Show |
intron_variant | MODIFIER | c.270+361C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 3/105 | chr19 | 38442814 | ||||||
| chr19:38442815
|
G | A | 1 | a0002c0008t0001g0167 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.270+362G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 3/105 | chr19 | 38442815 | ||||||
| chr19:38442945
|
G | C | 2 | a0004c0047t0002g0205a0029c0057t0002g0204 | 2 | HG03579.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.270+492G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 3/105 | chr19 | 38442945 | ||||||
| chr19:38442971
|
A | G | 19 | a0001c0002t0001g0194a0001c0003t0002g0206a0001c0003t0002g0207others(16): Show | 19 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(16): Show |
intron_variant | MODIFIER | c.270+518A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 3/105 | chr19 | 38442971 | ||||||
| chr19:38443033
|
G | A | 2 | a0019c0080t0001g0142a0020c0081t0001g0143 | 2 | HG02647.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.271-525G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 3/105 | chr19 | 38443033 | ||||||
| chr19:38443048
|
T | C | 9 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0068t0002g0209others(6): Show | 9 | HG02257.hp2 HG03453.hp1 HG03453.hp2 others(6): Show |
intron_variant | MODIFIER | c.271-510T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 3/105 | chr19 | 38443048 | ||||||
| chr19:38443176
|
G | T | 13 | a0001c0003t0001g0116a0001c0020t0001g0185a0001c0020t0001g0197others(10): Show | 13 | HG00735.hp1 HG01169.hp1 HG02109.hp2 others(10): Show |
intron_variant | MODIFIER | c.271-382G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 3/105 | chr19 | 38443176 | ||||||
| chr19:38443215
|
G | A | 4 | a0001c0004t0001g0101a0001c0004t0001g0103a0001c0017t0001g0102others(1): Show | 4 | NA18612.hp1 NA18955.hp2 NA19067.hp2 others(1): Show |
intron_variant | MODIFIER | c.271-343G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 3/105 | chr19 | 38443215 | ||||||
| chr19:38443265
|
A | G | 20 | a0001c0002t0001g0194a0001c0003t0002g0206a0001c0003t0002g0207others(17): Show | 20 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(17): Show |
intron_variant | MODIFIER | c.271-293A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 3/105 | chr19 | 38443265 | ||||||
| chr19:38443410
|
A | G | 20 | a0001c0002t0001g0194a0001c0003t0002g0206a0001c0003t0002g0207others(17): Show | 20 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(17): Show |
intron_variant | MODIFIER | c.271-148A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 3/105 | chr19 | 38443410 | ||||||
| chr19:38443551
|
C | G | 1 | a0001c0056t0001g0135 | 1 | HG02559.hp2 | splice_region_variant&intron_variant | LOW | c.271-7C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 3/105 | chr19 | 38443551 | ||||||
| chr19:38443935
|
G | A | 1 | a0015c0086t0001g0019 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.424+139G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 5/105 | chr19 | 38443935 | ||||||
| chr19:38443953
|
G | C | 4 | a0008c0010t0001g0006a0008c0010t0001g0007a0019c0080t0001g0142others(1): Show | 4 | HG02647.hp2 HG03139.hp1 NA18522.hp2 others(1): Show |
intron_variant | MODIFIER | c.424+157G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 5/105 | chr19 | 38443953 | ||||||
| chr19:38443955
|
C | G | 3 | a0008c0010t0001g0006a0008c0010t0001g0007a0019c0080t0001g0142 | 3 | HG02647.hp2 HG03139.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.424+159C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 5/105 | chr19 | 38443955 | ||||||
| chr19:38444071
|
G | T | 3 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0108t0001g0138 | 3 | HG03942.hp1 NA19030.hp1 NA19067.hp1 |
intron_variant | MODIFIER | c.425-78G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 5/105 | chr19 | 38444071 | ||||||
| chr19:38444710
|
T | TC | 106 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(103): Show | 106 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(103): Show |
intron_variant | MODIFIER | c.631+39dupC | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 7/105 | INFO_REALIGN_3_PRIME | chr19 | 38444710 | |||||
| chr19:38444726
|
C | T | 13 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(10): Show | 13 | HG01099.hp2 HG01257.hp2 HG01258.hp2 others(10): Show |
intron_variant | MODIFIER | c.631+49C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 7/105 | chr19 | 38444726 | ||||||
| chr19:38444995
|
G | A | 102 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(99): Show | 102 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(99): Show |
intron_variant | MODIFIER | c.631+318G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 7/105 | chr19 | 38444995 | ||||||
| chr19:38445023
|
G | A | 2 | a0019c0080t0001g0142a0020c0081t0001g0143 | 2 | HG02647.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.631+346G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 7/105 | chr19 | 38445023 | ||||||
| chr19:38445032
|
G | A | 3 | a0001c0033t0001g0158a0005c0016t0001g0122a0005c0016t0001g0123 | 3 | HG01099.hp2 HG04199.hp1 HG04204.hp2 |
intron_variant | MODIFIER | c.631+355G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 7/105 | chr19 | 38445032 | ||||||
| chr19:38445186
|
GCAGAGGA others(10): Show |
G | 2 | a0004c0084t0002g0210a0018c0083t0002g0211 | 2 | HG02922.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.631+515_631+531del others(17): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 7/105 | INFO_REALIGN_3_PRIME | chr19 | 38445186 | |||||
| chr19:38445210
|
C | G | 5 | a0001c0002t0001g0085a0001c0002t0001g0087a0001c0002t0001g0095others(2): Show | 5 | NA18952.hp1 NA18998.hp1 NA19057.hp2 others(2): Show |
intron_variant | MODIFIER | c.631+533C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 7/105 | chr19 | 38445210 | ||||||
| chr19:38445222
|
C | CA | 81 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0014others(78): Show | 81 | HG00438.hp2 HG00609.hp1 HG00609.hp2 others(78): Show |
intron_variant | MODIFIER | c.631+572dupA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 7/105 | INFO_REALIGN_3_PRIME | chr19 | 38445222 | |||||
| chr19:38445222
|
C | CAA | 18 | a0001c0001t0001g0012a0001c0001t0001g0039a0001c0001t0001g0145others(15): Show | 18 | HG00733.hp1 HG01071.hp2 HG01169.hp2 others(15): Show |
intron_variant | MODIFIER | c.631+571_631+572dup others(2): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 7/105 | INFO_REALIGN_3_PRIME | chr19 | 38445222 | |||||
| chr19:38445222
|
CA | C | 6 | a0001c0004t0001g0101a0001c0019t0002g0217a0001c0020t0001g0197others(3): Show | 6 | HG01169.hp1 HG02109.hp2 HG02965.hp1 others(3): Show |
intron_variant | MODIFIER | c.631+572delA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 7/105 | INFO_REALIGN_3_PRIME | chr19 | 38445222 | |||||
| chr19:38445222
|
CAA | C | 50 | a0001c0003t0001g0100a0001c0003t0001g0105a0001c0003t0001g0107others(47): Show | 50 | HG00639.hp2 HG00642.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.631+571_631+572del others(2): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 7/105 | INFO_REALIGN_3_PRIME | chr19 | 38445222 | |||||
| chr19:38445222
|
CAAA | C | 14 | a0001c0035t0001g0113a0001c0049t0003g0033a0001c0052t0003g0034others(11): Show | 14 | HG01891.hp1 HG02080.hp2 HG02257.hp2 others(11): Show |
intron_variant | MODIFIER | c.631+570_631+572del others(3): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 7/105 | INFO_REALIGN_3_PRIME | chr19 | 38445222 | |||||
| chr19:38445222
|
CAAAA | C | 11 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(8): Show | 11 | HG01099.hp2 HG01257.hp2 HG01258.hp2 others(8): Show |
intron_variant | MODIFIER | c.631+569_631+572del others(4): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 7/105 | INFO_REALIGN_3_PRIME | chr19 | 38445222 | |||||
| chr19:38445243
|
A | T | 4 | a0001c0049t0003g0033a0001c0052t0003g0034a0003c0050t0003g0035others(1): Show | 4 | HG02080.hp2 NA18980.hp2 NA18983.hp2 others(1): Show |
intron_variant | MODIFIER | c.631+566A>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 7/105 | chr19 | 38445243 | ||||||
| chr19:38445264
|
C | T | 3 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0090t0001g0017 | 3 | HG01884.hp2 HG02622.hp2 HG02723.hp2 |
intron_variant | MODIFIER | c.631+587C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 7/105 | chr19 | 38445264 | ||||||
| chr19:38445308
|
C | T | 97 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(94): Show | 97 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(94): Show |
intron_variant | MODIFIER | c.631+631C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 7/105 | chr19 | 38445308 | ||||||
| chr19:38445379
|
A | G | 2 | a0001c0020t0001g0185a0029c0057t0002g0204 | 2 | HG02257.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.631+702A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 7/105 | chr19 | 38445379 | ||||||
| chr19:38445394
|
A | G | 2 | a0019c0080t0001g0142a0020c0081t0001g0143 | 2 | HG02647.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.631+717A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 7/105 | chr19 | 38445394 | ||||||
| chr19:38445433
|
C | T | 4 | a0001c0049t0003g0033a0001c0052t0003g0034a0003c0050t0003g0035others(1): Show | 4 | HG02080.hp2 NA18980.hp2 NA18983.hp2 others(1): Show |
intron_variant | MODIFIER | c.631+756C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 7/105 | chr19 | 38445433 | ||||||
| chr19:38445463
|
C | A | 2 | a0019c0080t0001g0142a0020c0081t0001g0143 | 2 | HG02647.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.631+786C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 7/105 | chr19 | 38445463 | ||||||
| chr19:38445463
|
C | G | 2 | a0015c0086t0001g0019a0016c0106t0001g0099 | 2 | HG03139.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.631+786C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 7/105 | chr19 | 38445463 | ||||||
| chr19:38445604
|
G | A | 7 | a0001c0054t0001g0136a0001c0055t0001g0137a0006c0007t0002g0202others(4): Show | 7 | HG01891.hp1 HG02257.hp2 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.632-868G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 7/105 | chr19 | 38445604 | ||||||
| chr19:38445637
|
A | G | 39 | a0001c0003t0001g0100a0001c0003t0001g0105a0001c0003t0001g0107others(36): Show | 39 | HG00639.hp2 HG00735.hp1 HG00735.hp2 others(36): Show |
intron_variant | MODIFIER | c.632-835A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 7/105 | chr19 | 38445637 | ||||||
| chr19:38445673
|
T | C | 2 | a0004c0084t0002g0210a0018c0083t0002g0211 | 2 | HG02922.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.632-799T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 7/105 | chr19 | 38445673 | ||||||
| chr19:38445711
|
A | G | 103 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(100): Show | 103 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(100): Show |
intron_variant | MODIFIER | c.632-761A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 7/105 | chr19 | 38445711 | ||||||
| chr19:38445780
|
G | C | 103 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(100): Show | 103 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(100): Show |
intron_variant | MODIFIER | c.632-692G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 7/105 | chr19 | 38445780 | ||||||
| chr19:38445854
|
A | G | 103 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(100): Show | 103 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(100): Show |
intron_variant | MODIFIER | c.632-618A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 7/105 | chr19 | 38445854 | ||||||
| chr19:38445893
|
G | A | 3 | a0004c0047t0002g0205a0007c0037t0002g0214a0007c0038t0002g0215 | 3 | HG03453.hp1 HG03471.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.632-579G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 7/105 | chr19 | 38445893 | ||||||
| chr19:38445895
|
C | CAGG | 103 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(100): Show | 103 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(100): Show |
intron_variant | MODIFIER | c.632-575_632-574ins others(3): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 7/105 | INFO_REALIGN_3_PRIME | chr19 | 38445895 | |||||
| chr19:38446013
|
A | C | 103 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(100): Show | 103 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(100): Show |
intron_variant | MODIFIER | c.632-459A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 7/105 | chr19 | 38446013 | ||||||
| chr19:38446089
|
G | A | 8 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(5): Show | 8 | HG02622.hp1 HG02897.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.632-383G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 7/105 | chr19 | 38446089 | ||||||
| chr19:38446093
|
A | G | 1 | a0003c0100t0001g0150 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.632-379A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 7/105 | chr19 | 38446093 | ||||||
| chr19:38446163
|
T | A | 102 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(99): Show | 102 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(99): Show |
intron_variant | MODIFIER | c.632-309T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 7/105 | chr19 | 38446163 | ||||||
| chr19:38446196
|
C | T | 102 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(99): Show | 102 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(99): Show |
intron_variant | MODIFIER | c.632-276C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 7/105 | chr19 | 38446196 | ||||||
| chr19:38446376
|
C | G | 1 | a0001c0004t0001g0119 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.632-96C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 7/105 | chr19 | 38446376 | ||||||
| chr19:38446910
|
T | G | 49 | a0001c0003t0001g0100a0001c0003t0001g0105a0001c0003t0001g0107others(46): Show | 49 | HG00639.hp2 HG00735.hp1 HG00735.hp2 others(46): Show |
intron_variant | MODIFIER | c.800+142T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 9/105 | chr19 | 38446910 | ||||||
| chr19:38447223
|
TCAAA | T | 109 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(106): Show | 109 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(106): Show |
intron_variant | MODIFIER | c.800+472_800+475del others(4): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 9/105 | INFO_REALIGN_3_PRIME | chr19 | 38447223 | |||||
| chr19:38447278
|
C | T | 2 | a0019c0080t0001g0142a0020c0081t0001g0143 | 2 | HG02647.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.800+510C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 9/105 | chr19 | 38447278 | ||||||
| chr19:38447417
|
T | C | 4 | a0001c0049t0003g0033a0001c0052t0003g0034a0003c0050t0003g0035others(1): Show | 4 | HG02080.hp2 NA18980.hp2 NA18983.hp2 others(1): Show |
intron_variant | MODIFIER | c.800+649T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 9/105 | chr19 | 38447417 | ||||||
| chr19:38447434
|
G | C | 1 | a0007c0039t0001g0031 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.800+666G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 9/105 | chr19 | 38447434 | ||||||
| chr19:38447492
|
G | A | 1 | a0019c0080t0001g0142 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.800+724G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 9/105 | chr19 | 38447492 | ||||||
| chr19:38447519
|
C | T | 2 | a0004c0084t0002g0210a0018c0083t0002g0211 | 2 | HG02922.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.800+751C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 9/105 | chr19 | 38447519 | ||||||
| chr19:38447524
|
G | A | 1 | a0003c0006t0001g0057 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.800+756G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 9/105 | chr19 | 38447524 | ||||||
| chr19:38447563
|
C | T | 3 | a0001c0003t0002g0206a0001c0003t0002g0207a0033c0043t0002g0208 | 3 | HG02615.hp1 HG02723.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.801-792C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 9/105 | chr19 | 38447563 | ||||||
| chr19:38447569
|
C | T | 14 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(11): Show | 14 | HG01099.hp2 HG01257.hp2 HG01258.hp2 others(11): Show |
intron_variant | MODIFIER | c.801-786C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 9/105 | chr19 | 38447569 | ||||||
| chr19:38447699
|
G | A | 4 | a0001c0049t0003g0033a0001c0052t0003g0034a0003c0050t0003g0035others(1): Show | 4 | HG02080.hp2 NA18980.hp2 NA18983.hp2 others(1): Show |
intron_variant | MODIFIER | c.801-656G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 9/105 | chr19 | 38447699 | ||||||
| chr19:38447841
|
TA | T | 56 | a0001c0003t0001g0100a0001c0003t0001g0105a0001c0003t0001g0107others(53): Show | 56 | HG00733.hp2 HG01070.hp1 HG01109.hp1 others(53): Show |
intron_variant | MODIFIER | c.801-497delA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 9/105 | INFO_REALIGN_3_PRIME | chr19 | 38447841 | |||||
| chr19:38447841
|
TAA | T | 53 | a0001c0003t0001g0116a0001c0003t0002g0206a0001c0003t0002g0207others(50): Show | 53 | HG00639.hp2 HG00642.hp2 HG00735.hp1 others(50): Show |
intron_variant | MODIFIER | c.801-498_801-497del others(2): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 9/105 | INFO_REALIGN_3_PRIME | chr19 | 38447841 | |||||
| chr19:38447841
|
TAAA | T | 106 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(103): Show | 106 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(103): Show |
intron_variant | MODIFIER | c.801-499_801-497del others(3): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 9/105 | INFO_REALIGN_3_PRIME | chr19 | 38447841 | |||||
| chr19:38447954
|
A | G | 3 | a0001c0110t0001g0157a0015c0086t0001g0019a0016c0106t0001g0099 | 3 | HG03139.hp2 HG03209.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.801-401A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 9/105 | chr19 | 38447954 | ||||||
| chr19:38448111
|
C | T | 1 | a0001c0033t0001g0158 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.801-244C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 9/105 | chr19 | 38448111 | ||||||
| chr19:38448147
|
C | T | 6 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(3): Show | 6 | HG00733.hp2 HG01109.hp1 HG01123.hp1 others(3): Show |
intron_variant | MODIFIER | c.801-208C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 9/105 | chr19 | 38448147 | ||||||
| chr19:38448210
|
T | C | 1 | a0001c0001t0001g0058 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.801-145T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 9/105 | chr19 | 38448210 | ||||||
| chr19:38448596
|
C | G | 1 | a0002c0008t0001g0175 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.958-53C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 10/105 | chr19 | 38448596 | ||||||
| chr19:38448865
|
T | C | 216 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(213): Show | 216 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(213): Show |
intron_variant | MODIFIER | c.1122+52T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 11/105 | chr19 | 38448865 | ||||||
| chr19:38449027
|
A | G | 1 | a0003c0064t0001g0181 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.1122+214A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 11/105 | chr19 | 38449027 | ||||||
| chr19:38449188
|
G | A | 1 | a0001c0110t0001g0157 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1122+375G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 11/105 | chr19 | 38449188 | ||||||
| chr19:38449401
|
G | A | 1 | a0001c0071t0001g0186 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1122+588G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 11/105 | chr19 | 38449401 | ||||||
| chr19:38449442
|
C | T | 27 | a0001c0003t0001g0100a0001c0003t0001g0105a0001c0003t0001g0107others(24): Show | 27 | HG01070.hp1 HG01175.hp1 HG01978.hp2 others(24): Show |
intron_variant | MODIFIER | c.1122+629C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 11/105 | chr19 | 38449442 | ||||||
| chr19:38449456
|
C | A | 1 | a0001c0071t0001g0186 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1122+643C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 11/105 | chr19 | 38449456 | ||||||
| chr19:38449457
|
G | A | 1 | a0007c0039t0001g0031 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1122+644G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 11/105 | chr19 | 38449457 | ||||||
| chr19:38449497
|
CAGAG | C | 3 | a0001c0035t0001g0113a0001c0036t0001g0111a0031c0032t0001g0128 | 3 | HG02698.hp1 NA18747.hp2 NA19068.hp1 |
intron_variant | MODIFIER | c.1122+689_1122+692d others(6): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 11/105 | INFO_REALIGN_3_PRIME | chr19 | 38449497 | |||||
| chr19:38449569
|
C | T | 1 | a0004c0047t0002g0205 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.1122+756C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 11/105 | chr19 | 38449569 | ||||||
| chr19:38449589
|
C | T | 177 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(174): Show | 177 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(174): Show |
intron_variant | MODIFIER | c.1122+776C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 11/105 | chr19 | 38449589 | ||||||
| chr19:38449732
|
G | T | 1 | a0001c0067t0001g0183 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.1122+919G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 11/105 | chr19 | 38449732 | ||||||
| chr19:38449828
|
AAG | A | 16 | a0001c0002t0001g0080a0001c0002t0001g0081a0001c0002t0001g0082others(13): Show | 16 | HG02027.hp2 HG02056.hp1 HG02080.hp1 others(13): Show |
intron_variant | MODIFIER | c.1122+1020_1122+102 others(6): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 11/105 | INFO_REALIGN_3_PRIME | chr19 | 38449828 | |||||
| chr19:38450456
|
A | G | 1 | a0002c0008t0001g0163 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.1123-1308A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 11/105 | chr19 | 38450456 | ||||||
| chr19:38450510
|
G | A | 2 | a0004c0084t0002g0210a0018c0083t0002g0211 | 2 | HG02922.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.1123-1254G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 11/105 | chr19 | 38450510 | ||||||
| chr19:38450512
|
GCT | G | 2 | a0001c0001t0001g0058a0001c0027t0001g0059 | 2 | HG01981.hp1 HG02293.hp2 |
intron_variant | MODIFIER | c.1123-1247_1123-124 others(6): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 11/105 | INFO_REALIGN_3_PRIME | chr19 | 38450512 | |||||
| chr19:38450546
|
G | A | 1 | a0001c0067t0001g0183 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.1123-1218G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 11/105 | chr19 | 38450546 | ||||||
| chr19:38450635
|
A | G | 2 | a0001c0011t0001g0003a0001c0011t0001g0005 | 2 | HG02922.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.1123-1129A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 11/105 | chr19 | 38450635 | ||||||
| chr19:38450678
|
T | G | 1 | a0001c0069t0001g0139 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.1123-1086T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 11/105 | chr19 | 38450678 | ||||||
| chr19:38450762
|
CA | C | 193 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(190): Show | 193 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(190): Show |
intron_variant | MODIFIER | c.1123-1000delA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 11/105 | INFO_REALIGN_3_PRIME | chr19 | 38450762 | |||||
| chr19:38450773
|
C | CAATA | 2 | a0004c0084t0002g0210a0018c0083t0002g0211 | 2 | HG02922.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.1123-977_1123-974d others(6): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 11/105 | INFO_REALIGN_3_PRIME | chr19 | 38450773 | |||||
| chr19:38450773
|
C | CAATAAAT others(1): Show |
95 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(92): Show | 95 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(92): Show |
intron_variant | MODIFIER | c.1123-981_1123-974d others(10): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 11/105 | INFO_REALIGN_3_PRIME | chr19 | 38450773 | |||||
| chr19:38450773
|
C | CAATAAAT others(5): Show |
15 | a0001c0001t0001g0058a0001c0001t0001g0079a0001c0001t0001g0093others(12): Show | 15 | HG01099.hp2 HG01257.hp2 HG01258.hp2 others(12): Show |
intron_variant | MODIFIER | c.1123-985_1123-974d others(14): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 11/105 | INFO_REALIGN_3_PRIME | chr19 | 38450773 | |||||
| chr19:38450773
|
C | CAATAAAT others(9): Show |
1 | a0001c0001t0001g0088 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.1123-989_1123-974d others(18): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 11/105 | INFO_REALIGN_3_PRIME | chr19 | 38450773 | |||||
| chr19:38450773
|
C | CAATAAAT others(13): Show |
3 | a0001c0110t0001g0157a0005c0088t0001g0053a0015c0086t0001g0019 | 3 | HG03209.hp1 HG04204.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.1123-974_1123-973i others(22): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 11/105 | INFO_REALIGN_3_PRIME | chr19 | 38450773 | |||||
| chr19:38450773
|
C | CAATAAAT others(17): Show |
1 | a0016c0106t0001g0099 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.1123-974_1123-973i others(26): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 11/105 | INFO_REALIGN_3_PRIME | chr19 | 38450773 | |||||
| chr19:38450791
|
C | A | 117 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(114): Show | 117 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(114): Show |
intron_variant | MODIFIER | c.1123-973C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 11/105 | chr19 | 38450791 | ||||||
| chr19:38450902
|
C | T | 4 | a0001c0022t0001g0051a0001c0022t0001g0052a0001c0066t0001g0092others(1): Show | 4 | NA18939.hp2 NA18951.hp2 NA19000.hp2 others(1): Show |
intron_variant | MODIFIER | c.1123-862C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 11/105 | chr19 | 38450902 | ||||||
| chr19:38450939
|
C | T | 1 | a0001c0071t0001g0186 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1123-825C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 11/105 | chr19 | 38450939 | ||||||
| chr19:38450959
|
C | T | 117 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(114): Show | 117 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(114): Show |
intron_variant | MODIFIER | c.1123-805C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 11/105 | chr19 | 38450959 | ||||||
| chr19:38450974
|
C | A | 4 | a0001c0004t0001g0096a0001c0004t0001g0097a0001c0004t0001g0119others(1): Show | 4 | HG01070.hp1 HG01175.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.1123-790C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 11/105 | chr19 | 38450974 | ||||||
| chr19:38451004
|
A | G | 102 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(99): Show | 102 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(99): Show |
intron_variant | MODIFIER | c.1123-760A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 11/105 | chr19 | 38451004 | ||||||
| chr19:38451005
|
C | T | 117 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(114): Show | 117 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(114): Show |
intron_variant | MODIFIER | c.1123-759C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 11/105 | chr19 | 38451005 | ||||||
| chr19:38451207
|
G | A | 3 | a0001c0119t0001g0189a0004c0015t0001g0187a0004c0015t0001g0188 | 3 | HG00642.hp2 HG01884.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.1123-557G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 11/105 | chr19 | 38451207 | ||||||
| chr19:38451237
|
C | T | 1 | a0001c0069t0001g0139 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.1123-527C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 11/105 | chr19 | 38451237 | ||||||
| chr19:38451344
|
A | G | 1 | a0001c0001t0001g0152 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.1123-420A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 11/105 | chr19 | 38451344 | ||||||
| chr19:38451406
|
G | A | 1 | a0001c0030t0001g0055 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.1123-358G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 11/105 | chr19 | 38451406 | ||||||
| chr19:38451446
|
C | T | 1 | a0001c0071t0001g0186 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1123-318C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 11/105 | chr19 | 38451446 | ||||||
| chr19:38451608
|
G | A | 50 | a0001c0003t0001g0100a0001c0003t0001g0105a0001c0003t0001g0107others(47): Show | 50 | HG00639.hp2 HG00642.hp2 HG00735.hp1 others(47): Show |
intron_variant | MODIFIER | c.1123-156G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 11/105 | chr19 | 38451608 | ||||||
| chr19:38451639
|
T | C | 4 | a0006c0007t0002g0202a0006c0007t0002g0203a0006c0007t0002g0212others(1): Show | 4 | HG01891.hp1 HG02257.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.1123-125T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 11/105 | chr19 | 38451639 | ||||||
| chr19:38451753
|
C | T | 4 | a0001c0022t0001g0051a0001c0022t0001g0052a0001c0066t0001g0092others(1): Show | 4 | NA18939.hp2 NA18951.hp2 NA19000.hp2 others(1): Show |
intron_variant | MODIFIER | c.1123-11C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 11/105 | chr19 | 38451753 | ||||||
| chr19:38452074
|
G | A | 193 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(190): Show | 193 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(190): Show |
intron_variant | MODIFIER | c.1244+189G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 12/105 | chr19 | 38452074 | ||||||
| chr19:38452089
|
G | A | 13 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(10): Show | 13 | HG01099.hp2 HG01257.hp2 HG01258.hp2 others(10): Show |
intron_variant | MODIFIER | c.1244+204G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 12/105 | chr19 | 38452089 | ||||||
| chr19:38452116
|
C | T | 1 | a0007c0039t0001g0031 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1244+231C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 12/105 | chr19 | 38452116 | ||||||
| chr19:38452126
|
C | CA | 33 | a0001c0001t0001g0014a0001c0001t0001g0018a0001c0001t0001g0093others(30): Show | 33 | HG01099.hp2 HG01175.hp1 HG01257.hp1 others(30): Show |
intron_variant | MODIFIER | c.1244+266dupA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 12/105 | INFO_REALIGN_3_PRIME | chr19 | 38452126 | |||||
| chr19:38452126
|
C | CAA | 85 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(82): Show | 85 | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(82): Show |
intron_variant | MODIFIER | c.1244+265_1244+266d others(4): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 12/105 | INFO_REALIGN_3_PRIME | chr19 | 38452126 | |||||
| chr19:38452126
|
C | CAAA | 25 | a0001c0001t0001g0022a0001c0002t0001g0085a0001c0002t0001g0091others(22): Show | 25 | HG00438.hp1 HG00438.hp2 HG01106.hp1 others(22): Show |
intron_variant | MODIFIER | c.1244+264_1244+266d others(5): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 12/105 | INFO_REALIGN_3_PRIME | chr19 | 38452126 | |||||
| chr19:38452126
|
CA | C | 18 | a0001c0005t0001g0155a0001c0005t0001g0156a0001c0005t0001g0176others(15): Show | 18 | HG00642.hp2 HG00733.hp2 HG01070.hp1 others(15): Show |
intron_variant | MODIFIER | c.1244+266delA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 12/105 | INFO_REALIGN_3_PRIME | chr19 | 38452126 | |||||
| chr19:38452174
|
T | C | 4 | a0001c0049t0003g0033a0001c0052t0003g0034a0003c0050t0003g0035others(1): Show | 4 | HG02080.hp2 NA18980.hp2 NA18983.hp2 others(1): Show |
intron_variant | MODIFIER | c.1244+289T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 12/105 | chr19 | 38452174 | ||||||
| chr19:38452385
|
G | A | 4 | a0001c0049t0003g0033a0001c0052t0003g0034a0003c0050t0003g0035others(1): Show | 4 | HG02080.hp2 NA18980.hp2 NA18983.hp2 others(1): Show |
intron_variant | MODIFIER | c.1245-434G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 12/105 | chr19 | 38452385 | ||||||
| chr19:38452514
|
A | G | 2 | a0004c0084t0002g0210a0018c0083t0002g0211 | 2 | HG02922.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.1245-305A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 12/105 | chr19 | 38452514 | ||||||
| chr19:38452541
|
C | T | 4 | a0006c0007t0002g0202a0006c0007t0002g0203a0006c0007t0002g0212others(1): Show | 4 | HG01891.hp1 HG02257.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.1245-278C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 12/105 | chr19 | 38452541 | ||||||
| chr19:38452601
|
C | T | 8 | a0001c0009t0001g0201a0001c0018t0001g0160a0001c0018t0001g0161others(5): Show | 8 | HG01099.hp2 HG01257.hp2 HG01258.hp2 others(5): Show |
intron_variant | MODIFIER | c.1245-218C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 12/105 | chr19 | 38452601 | ||||||
| chr19:38452607
|
C | G | 1 | a0001c0067t0001g0183 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.1245-212C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 12/105 | chr19 | 38452607 | ||||||
| chr19:38452633
|
C | A | 4 | a0001c0049t0003g0033a0001c0052t0003g0034a0003c0050t0003g0035others(1): Show | 4 | HG02080.hp2 NA18980.hp2 NA18983.hp2 others(1): Show |
intron_variant | MODIFIER | c.1245-186C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 12/105 | chr19 | 38452633 | ||||||
| chr19:38452790
|
C | T | 1 | a0001c0027t0001g0030 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.1245-29C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 12/105 | chr19 | 38452790 | ||||||
| chr19:38453088
|
G | A | 116 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(113): Show | 116 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(113): Show |
intron_variant | MODIFIER | c.1440+74G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 13/105 | chr19 | 38453088 | ||||||
| chr19:38453088
|
G | C | 1 | a0001c0001t0001g0039 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.1440+74G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 13/105 | chr19 | 38453088 | ||||||
| chr19:38453159
|
C | T | 2 | a0004c0084t0002g0210a0018c0083t0002g0211 | 2 | HG02922.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.1440+145C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 13/105 | chr19 | 38453159 | ||||||
| chr19:38453164
|
A | G | 1 | a0001c0067t0001g0183 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.1440+150A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 13/105 | chr19 | 38453164 | ||||||
| chr19:38453213
|
G | A | 7 | a0001c0049t0003g0033a0001c0052t0003g0034a0001c0054t0001g0136others(4): Show | 7 | HG02080.hp2 HG02630.hp2 HG03471.hp1 others(4): Show |
intron_variant | MODIFIER | c.1440+199G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 13/105 | chr19 | 38453213 | ||||||
| chr19:38453284
|
G | A | 1 | a0004c0084t0002g0210 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1440+270G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 13/105 | chr19 | 38453284 | ||||||
| chr19:38453310
|
G | A | 8 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(5): Show | 8 | HG02622.hp1 HG02897.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.1440+296G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 13/105 | chr19 | 38453310 | ||||||
| chr19:38453310
|
G | T | 1 | a0001c0071t0001g0186 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1440+296G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 13/105 | chr19 | 38453310 | ||||||
| chr19:38453337
|
G | A | 1 | a0003c0006t0001g0057 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.1440+323G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 13/105 | chr19 | 38453337 | ||||||
| chr19:38453352
|
T | C | 194 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(191): Show | 194 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(191): Show |
intron_variant | MODIFIER | c.1440+338T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 13/105 | chr19 | 38453352 | ||||||
| chr19:38453447
|
G | A | 4 | a0001c0049t0003g0033a0001c0052t0003g0034a0003c0050t0003g0035others(1): Show | 4 | HG02080.hp2 NA18980.hp2 NA18983.hp2 others(1): Show |
intron_variant | MODIFIER | c.1440+433G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 13/105 | chr19 | 38453447 | ||||||
| chr19:38453569
|
G | A | 2 | a0004c0084t0002g0210a0018c0083t0002g0211 | 2 | HG02922.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.1440+555G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 13/105 | chr19 | 38453569 | ||||||
| chr19:38453706
|
A | G | 216 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(213): Show | 216 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(213): Show |
intron_variant | MODIFIER | c.1440+692A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 13/105 | chr19 | 38453706 | ||||||
| chr19:38453759
|
C | T | 2 | a0004c0084t0002g0210a0018c0083t0002g0211 | 2 | HG02922.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.1440+745C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 13/105 | chr19 | 38453759 | ||||||
| chr19:38453907
|
C | T | 2 | a0001c0019t0002g0217a0001c0019t0002g0218 | 2 | HG03942.hp1 NA19067.hp1 |
intron_variant | MODIFIER | c.1440+893C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 13/105 | chr19 | 38453907 | ||||||
| chr19:38453962
|
T | A | 2 | a0001c0018t0001g0160a0001c0018t0001g0161 | 2 | HG01257.hp2 HG01258.hp2 |
intron_variant | MODIFIER | c.1440+948T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 13/105 | chr19 | 38453962 | ||||||
| chr19:38454076
|
A | G | 125 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(122): Show | 125 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(122): Show |
intron_variant | MODIFIER | c.1440+1062A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 13/105 | chr19 | 38454076 | ||||||
| chr19:38454087
|
A | C | 117 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(114): Show | 117 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(114): Show |
intron_variant | MODIFIER | c.1440+1073A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 13/105 | chr19 | 38454087 | ||||||
| chr19:38454096
|
G | A | 1 | a0007c0039t0001g0031 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1440+1082G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 13/105 | chr19 | 38454096 | ||||||
| chr19:38454098
|
G | A | 11 | a0001c0009t0001g0201a0001c0018t0001g0160a0001c0018t0001g0161others(8): Show | 11 | HG01099.hp2 HG01257.hp2 HG01258.hp2 others(8): Show |
intron_variant | MODIFIER | c.1440+1084G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 13/105 | chr19 | 38454098 | ||||||
| chr19:38454118
|
C | T | 1 | a0004c0047t0002g0205 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.1440+1104C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 13/105 | chr19 | 38454118 | ||||||
| chr19:38454221
|
G | T | 1 | a0001c0108t0001g0138 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1441-1014G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 13/105 | chr19 | 38454221 | ||||||
| chr19:38454233
|
T | A | 2 | a0004c0084t0002g0210a0018c0083t0002g0211 | 2 | HG02922.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.1441-1002T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 13/105 | chr19 | 38454233 | ||||||
| chr19:38454248
|
C | G | 1 | a0001c0005t0001g0176 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.1441-987C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 13/105 | chr19 | 38454248 | ||||||
| chr19:38454535
|
T | C | 1 | a0001c0085t0001g0198 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.1441-700T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 13/105 | chr19 | 38454535 | ||||||
| chr19:38454600
|
A | G | 117 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(114): Show | 117 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(114): Show |
intron_variant | MODIFIER | c.1441-635A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 13/105 | chr19 | 38454600 | ||||||
| chr19:38454762
|
A | G | 104 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(101): Show | 104 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(101): Show |
intron_variant | MODIFIER | c.1441-473A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 13/105 | chr19 | 38454762 | ||||||
| chr19:38454788
|
T | TA | 128 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(125): Show | 128 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(125): Show |
intron_variant | MODIFIER | c.1441-436dupA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 13/105 | INFO_REALIGN_3_PRIME | chr19 | 38454788 | |||||
| chr19:38455000
|
A | G | 194 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(191): Show | 194 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(191): Show |
intron_variant | MODIFIER | c.1441-235A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 13/105 | chr19 | 38455000 | ||||||
| chr19:38455026
|
G | A | 1 | a0012c0113t0001g0195 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.1441-209G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 13/105 | chr19 | 38455026 | ||||||
| chr19:38455073
|
G | A | 2 | a0019c0080t0001g0142a0020c0081t0001g0143 | 2 | HG02647.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.1441-162G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 13/105 | chr19 | 38455073 | ||||||
| chr19:38455203
|
T | C | 3 | a0001c0003t0002g0206a0001c0003t0002g0207a0033c0043t0002g0208 | 3 | HG02615.hp1 HG02723.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.1441-32T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 13/105 | chr19 | 38455203 | ||||||
| chr19:38455211
|
T | C | 194 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(191): Show | 194 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(191): Show |
intron_variant | MODIFIER | c.1441-24T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 13/105 | chr19 | 38455211 | ||||||
| chr19:38455445
|
C | G | 6 | a0004c0047t0002g0205a0004c0115t0004g0216a0007c0037t0002g0214others(3): Show | 6 | HG02630.hp1 HG02647.hp2 HG03453.hp1 others(3): Show |
splice_region_variant&intron_variant | LOW | c.1577-6C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 14/105 | chr19 | 38455445 | ||||||
| chr19:38455575
|
G | C | 117 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(114): Show | 117 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(114): Show |
intron_variant | MODIFIER | c.1672+29G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 15/105 | chr19 | 38455575 | ||||||
| chr19:38455967
|
G | GT | 25 | a0001c0001t0001g0028a0001c0001t0001g0094a0001c0002t0001g0085others(22): Show | 25 | HG01106.hp1 HG01175.hp2 HG01257.hp2 others(22): Show |
intron_variant | MODIFIER | c.1791+238dupT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | INFO_REALIGN_3_PRIME | chr19 | 38455967 | |||||
| chr19:38455967
|
G | GTT | 13 | a0001c0003t0002g0206a0001c0003t0002g0207a0001c0009t0001g0201others(10): Show | 13 | HG01258.hp2 HG02074.hp1 HG02080.hp2 others(10): Show |
intron_variant | MODIFIER | c.1791+237_1791+238d others(4): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | INFO_REALIGN_3_PRIME | chr19 | 38455967 | |||||
| chr19:38455967
|
GT | G | 14 | a0001c0001t0001g0026a0001c0002t0001g0063a0001c0085t0001g0198others(11): Show | 14 | HG00609.hp1 HG00609.hp2 HG01884.hp1 others(11): Show |
intron_variant | MODIFIER | c.1791+238delT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | INFO_REALIGN_3_PRIME | chr19 | 38455967 | |||||
| chr19:38455967
|
GTTTTTT | G | 37 | a0001c0003t0001g0100a0001c0003t0001g0105a0001c0003t0001g0107others(34): Show | 37 | HG00639.hp2 HG00735.hp1 HG00735.hp2 others(34): Show |
intron_variant | MODIFIER | c.1791+233_1791+238d others(8): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | INFO_REALIGN_3_PRIME | chr19 | 38455967 | |||||
| chr19:38456089
|
G | GCTTGAAC others(2): Show |
3 | a0001c0003t0002g0206a0001c0003t0002g0207a0033c0043t0002g0208 | 3 | HG02615.hp1 HG02723.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.1791+338_1791+339i others(11): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | chr19 | 38456089 | ||||||
| chr19:38456090
|
G | C | 3 | a0001c0003t0002g0206a0001c0003t0002g0207a0033c0043t0002g0208 | 3 | HG02615.hp1 HG02723.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.1791+339G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | chr19 | 38456090 | ||||||
| chr19:38456146
|
AT | A | 118 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(115): Show | 118 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(115): Show |
intron_variant | MODIFIER | c.1791+405delT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | INFO_REALIGN_3_PRIME | chr19 | 38456146 | |||||
| chr19:38456148
|
T | A | 7 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(4): Show | 7 | HG00733.hp2 HG01109.hp1 HG01123.hp1 others(4): Show |
intron_variant | MODIFIER | c.1791+397T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | chr19 | 38456148 | ||||||
| chr19:38456211
|
A | G | 117 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(114): Show | 117 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(114): Show |
intron_variant | MODIFIER | c.1791+460A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | chr19 | 38456211 | ||||||
| chr19:38456239
|
G | A | 3 | a0001c0054t0001g0136a0001c0055t0001g0137a0007c0039t0001g0031 | 3 | HG02630.hp2 HG03471.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.1791+488G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | chr19 | 38456239 | ||||||
| chr19:38456264
|
A | G | 117 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(114): Show | 117 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(114): Show |
intron_variant | MODIFIER | c.1791+513A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | chr19 | 38456264 | ||||||
| chr19:38456267
|
G | A | 8 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(5): Show | 8 | HG02622.hp1 HG02897.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.1791+516G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | chr19 | 38456267 | ||||||
| chr19:38456274
|
A | AT | 14 | a0001c0009t0001g0201a0001c0018t0001g0160a0001c0019t0002g0217others(11): Show | 14 | HG00642.hp2 HG01099.hp2 HG01257.hp2 others(11): Show |
intron_variant | MODIFIER | c.1791+542dupT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | INFO_REALIGN_3_PRIME | chr19 | 38456274 | |||||
| chr19:38456274
|
A | ATT | 9 | a0001c0001t0001g0039a0001c0001t0001g0064a0001c0018t0001g0161others(6): Show | 9 | HG01258.hp2 HG01891.hp1 HG02683.hp1 others(6): Show |
intron_variant | MODIFIER | c.1791+541_1791+542d others(4): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | INFO_REALIGN_3_PRIME | chr19 | 38456274 | |||||
| chr19:38456274
|
A | ATTT | 86 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(83): Show | 86 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(83): Show |
intron_variant | MODIFIER | c.1791+540_1791+542d others(5): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | INFO_REALIGN_3_PRIME | chr19 | 38456274 | |||||
| chr19:38456274
|
A | ATTTT | 15 | a0001c0001t0001g0043a0001c0001t0001g0058a0001c0001t0001g0077others(12): Show | 15 | HG00642.hp1 HG01106.hp1 HG01106.hp2 others(12): Show |
intron_variant | MODIFIER | c.1791+539_1791+542d others(6): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | INFO_REALIGN_3_PRIME | chr19 | 38456274 | |||||
| chr19:38456274
|
A | T | 1 | a0001c0069t0001g0139 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.1791+523A>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | chr19 | 38456274 | ||||||
| chr19:38456335
|
G | A | 1 | a0001c0071t0001g0186 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1791+584G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | chr19 | 38456335 | ||||||
| chr19:38456374
|
C | T | 1 | a0001c0110t0001g0157 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1791+623C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | chr19 | 38456374 | ||||||
| chr19:38456525
|
A | G | 1 | a0001c0120t0001g0132 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.1791+774A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | chr19 | 38456525 | ||||||
| chr19:38456551
|
G | C | 1 | a0001c0071t0001g0186 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1791+800G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | chr19 | 38456551 | ||||||
| chr19:38456572
|
G | A | 4 | a0001c0119t0001g0189a0004c0015t0001g0098a0004c0015t0001g0187others(1): Show | 4 | HG00642.hp2 HG01884.hp1 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.1791+821G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | chr19 | 38456572 | ||||||
| chr19:38456726
|
A | T | 126 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(123): Show | 126 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(123): Show |
intron_variant | MODIFIER | c.1792-771A>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | chr19 | 38456726 | ||||||
| chr19:38456818
|
G | A | 2 | a0004c0084t0002g0210a0018c0083t0002g0211 | 2 | HG02922.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.1792-679G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | chr19 | 38456818 | ||||||
| chr19:38456822
|
G | A | 2 | a0007c0037t0002g0214a0007c0038t0002g0215 | 2 | HG03453.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.1792-675G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | chr19 | 38456822 | ||||||
| chr19:38456915
|
A | G | 1 | a0012c0113t0001g0195 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.1792-582A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | chr19 | 38456915 | ||||||
| chr19:38456919
|
G | A | 1 | a0012c0113t0001g0195 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.1792-578G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | chr19 | 38456919 | ||||||
| chr19:38456939
|
G | A | 1 | a0031c0032t0001g0128 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.1792-558G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | chr19 | 38456939 | ||||||
| chr19:38456943
|
G | A | 1 | a0001c0068t0002g0209 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.1792-554G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | chr19 | 38456943 | ||||||
| chr19:38456996
|
A | C | 3 | a0001c0001t0001g0075a0001c0001t0001g0076a0001c0001t0001g0094 | 3 | HG01981.hp2 HG03490.hp1 NA20905.hp2 |
intron_variant | MODIFIER | c.1792-501A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | chr19 | 38456996 | ||||||
| chr19:38457002
|
C | T | 8 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(5): Show | 8 | HG02622.hp1 HG02897.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.1792-495C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | chr19 | 38457002 | ||||||
| chr19:38457044
|
TC | T | 47 | a0001c0003t0001g0100a0001c0003t0001g0107a0001c0003t0001g0116others(44): Show | 47 | HG00639.hp2 HG00642.hp2 HG00735.hp1 others(44): Show |
intron_variant | MODIFIER | c.1792-451delC | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | INFO_REALIGN_3_PRIME | chr19 | 38457044 | |||||
| chr19:38457045
|
C | CA | 8 | a0001c0076t0001g0164a0001c0077t0001g0047a0002c0008t0001g0175others(5): Show | 8 | HG01978.hp1 HG02647.hp2 HG02683.hp2 others(5): Show |
intron_variant | MODIFIER | c.1792-452_1792-451i others(3): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | chr19 | 38457045 | ||||||
| chr19:38457045
|
C | CAA | 2 | a0006c0007t0002g0202a0006c0007t0002g0203 | 2 | HG01891.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.1792-452_1792-451i others(4): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | chr19 | 38457045 | ||||||
| chr19:38457045
|
C | CAAAA | 55 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(52): Show | 55 | HG00438.hp2 HG00609.hp1 HG00733.hp1 others(52): Show |
intron_variant | MODIFIER | c.1792-452_1792-451i others(6): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | chr19 | 38457045 | ||||||
| chr19:38457045
|
C | CAAAAA | 42 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0029others(39): Show | 42 | HG00438.hp1 HG00609.hp2 HG00621.hp1 others(39): Show |
intron_variant | MODIFIER | c.1792-452_1792-451i others(7): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | chr19 | 38457045 | ||||||
| chr19:38457045
|
C | CAAAAAA | 7 | a0001c0001t0001g0039a0001c0001t0001g0043a0001c0002t0001g0091others(4): Show | 7 | HG00642.hp1 HG01243.hp2 HG02080.hp1 others(4): Show |
intron_variant | MODIFIER | c.1792-452_1792-451i others(8): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | chr19 | 38457045 | ||||||
| chr19:38457045
|
CCA | C | 3 | a0001c0067t0001g0183a0001c0068t0002g0209a0017c0041t0001g0117 | 3 | HG01169.hp1 NA19043.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.1792-451_1792-450d others(4): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | chr19 | 38457045 | ||||||
| chr19:38457045
|
CCAAAAAA | C | 8 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(5): Show | 8 | HG01099.hp2 HG01257.hp2 HG01258.hp2 others(5): Show |
intron_variant | MODIFIER | c.1792-451_1792-445d others(9): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | chr19 | 38457045 | ||||||
| chr19:38457046
|
C | A | 157 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(154): Show | 157 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(154): Show |
intron_variant | MODIFIER | c.1792-451C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | chr19 | 38457046 | ||||||
| chr19:38457280
|
G | C | 10 | a0004c0047t0002g0205a0006c0007t0002g0202a0006c0007t0002g0203others(7): Show | 10 | HG01891.hp1 HG02257.hp2 HG02647.hp2 others(7): Show |
intron_variant | MODIFIER | c.1792-217G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | chr19 | 38457280 | ||||||
| chr19:38457394
|
C | T | 8 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(5): Show | 8 | HG02622.hp1 HG02897.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.1792-103C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 16/105 | chr19 | 38457394 | ||||||
| chr19:38457705
|
G | A | 1 | a0001c0023t0001g0110 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.1925+75G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 17/105 | chr19 | 38457705 | ||||||
| chr19:38457716
|
T | C | 120 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(117): Show | 120 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(117): Show |
intron_variant | MODIFIER | c.1925+86T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 17/105 | chr19 | 38457716 | ||||||
| chr19:38457736
|
A | G | 1 | a0001c0085t0001g0198 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.1925+106A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 17/105 | chr19 | 38457736 | ||||||
| chr19:38457780
|
C | G | 9 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(6): Show | 9 | HG00733.hp1 HG01106.hp2 HG01243.hp2 others(6): Show |
intron_variant | MODIFIER | c.1925+150C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 17/105 | chr19 | 38457780 | ||||||
| chr19:38457877
|
C | G | 7 | a0004c0047t0002g0205a0004c0115t0004g0216a0007c0037t0002g0214others(4): Show | 7 | HG02630.hp1 HG02647.hp2 HG03453.hp1 others(4): Show |
intron_variant | MODIFIER | c.1926-174C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 17/105 | chr19 | 38457877 | ||||||
| chr19:38458011
|
C | T | 1 | a0001c0030t0001g0054 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.1926-40C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 17/105 | chr19 | 38458011 | ||||||
| chr19:38458323
|
C | G | 42 | a0001c0003t0001g0100a0001c0003t0001g0105a0001c0003t0001g0107others(39): Show | 42 | HG00639.hp2 HG00735.hp1 HG00735.hp2 others(39): Show |
intron_variant | MODIFIER | c.2167+31C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 18/105 | chr19 | 38458323 | ||||||
| chr19:38458462
|
C | T | 2 | a0001c0054t0001g0136a0001c0055t0001g0137 | 2 | HG02630.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.2167+170C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 18/105 | chr19 | 38458462 | ||||||
| chr19:38458613
|
T | A | 188 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(185): Show | 188 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(185): Show |
intron_variant | MODIFIER | c.2167+321T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 18/105 | chr19 | 38458613 | ||||||
| chr19:38458614
|
G | A | 1 | a0001c0034t0001g0180 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.2167+322G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 18/105 | chr19 | 38458614 | ||||||
| chr19:38458614
|
G | T | 188 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(185): Show | 188 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(185): Show |
intron_variant | MODIFIER | c.2167+322G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 18/105 | chr19 | 38458614 | ||||||
| chr19:38458617
|
T | A | 113 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(110): Show | 113 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(110): Show |
intron_variant | MODIFIER | c.2167+325T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 18/105 | chr19 | 38458617 | ||||||
| chr19:38458618
|
G | T | 114 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(111): Show | 114 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(111): Show |
intron_variant | MODIFIER | c.2167+326G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 18/105 | chr19 | 38458618 | ||||||
| chr19:38458706
|
C | T | 8 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(5): Show | 8 | HG02622.hp1 HG02897.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.2167+414C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 18/105 | chr19 | 38458706 | ||||||
| chr19:38458774
|
A | G | 112 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(109): Show | 112 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(109): Show |
intron_variant | MODIFIER | c.2168-372A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 18/105 | chr19 | 38458774 | ||||||
| chr19:38458865
|
C | T | 101 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(98): Show | 101 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(98): Show |
intron_variant | MODIFIER | c.2168-281C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 18/105 | chr19 | 38458865 | ||||||
| chr19:38458915
|
G | A | 3 | a0002c0012t0001g0168a0002c0012t0001g0171a0002c0078t0001g0130 | 3 | HG02735.hp1 HG03669.hp1 HG04184.hp2 |
intron_variant | MODIFIER | c.2168-231G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 18/105 | chr19 | 38458915 | ||||||
| chr19:38458951
|
C | T | 6 | a0004c0047t0002g0205a0007c0037t0002g0214a0007c0038t0002g0215others(3): Show | 6 | HG02647.hp2 HG03453.hp1 HG03471.hp1 others(3): Show |
intron_variant | MODIFIER | c.2168-195C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 18/105 | chr19 | 38458951 | ||||||
| chr19:38459089
|
T | G | 112 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(109): Show | 112 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(109): Show |
intron_variant | MODIFIER | c.2168-57T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 18/105 | chr19 | 38459089 | ||||||
| chr19:38459116
|
C | T | 4 | a0006c0007t0002g0202a0006c0007t0002g0203a0006c0007t0002g0212others(1): Show | 4 | HG01891.hp1 HG02257.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.2168-30C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 18/105 | chr19 | 38459116 | ||||||
| chr19:38459580
|
T | C | 1 | a0001c0002t0001g0124 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.2360+242T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 19/105 | chr19 | 38459580 | ||||||
| chr19:38459666
|
C | CTGA | 112 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(109): Show | 112 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(109): Show |
intron_variant | MODIFIER | c.2360+333_2360+335d others(5): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 19/105 | INFO_REALIGN_3_PRIME | chr19 | 38459666 | |||||
| chr19:38459753
|
G | A | 45 | a0001c0003t0001g0100a0001c0003t0001g0105a0001c0003t0001g0107others(42): Show | 45 | HG00639.hp2 HG00735.hp1 HG00735.hp2 others(42): Show |
intron_variant | MODIFIER | c.2360+415G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 19/105 | chr19 | 38459753 | ||||||
| chr19:38459774
|
C | G | 1 | a0001c0076t0001g0164 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.2360+436C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 19/105 | chr19 | 38459774 | ||||||
| chr19:38459798
|
A | G | 2 | a0001c0022t0001g0052a0024c0061t0001g0044 | 2 | NA19000.hp2 NA19084.hp1 |
intron_variant | MODIFIER | c.2360+460A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 19/105 | chr19 | 38459798 | ||||||
| chr19:38459891
|
G | A | 8 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(5): Show | 8 | HG01099.hp2 HG01257.hp2 HG01258.hp2 others(5): Show |
intron_variant | MODIFIER | c.2361-484G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 19/105 | chr19 | 38459891 | ||||||
| chr19:38459980
|
A | G | 2 | a0004c0084t0002g0210a0018c0083t0002g0211 | 2 | HG02922.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.2361-395A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 19/105 | chr19 | 38459980 | ||||||
| chr19:38460043
|
C | T | 3 | a0007c0037t0002g0214a0007c0038t0002g0215a0007c0039t0001g0031 | 3 | HG03453.hp1 HG03471.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.2361-332C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 19/105 | chr19 | 38460043 | ||||||
| chr19:38460187
|
A | G | 1 | a0001c0056t0001g0135 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.2361-188A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 19/105 | chr19 | 38460187 | ||||||
| chr19:38460307
|
C | T | 112 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(109): Show | 112 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(109): Show |
intron_variant | MODIFIER | c.2361-68C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 19/105 | chr19 | 38460307 | ||||||
| chr19:38460333
|
A | G | 8 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(5): Show | 8 | HG02622.hp1 HG02897.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.2361-42A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 19/105 | chr19 | 38460333 | ||||||
| chr19:38460616
|
T | C | 4 | a0006c0007t0002g0202a0006c0007t0002g0203a0006c0007t0002g0212others(1): Show | 4 | HG01891.hp1 HG02257.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.2577+25T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | chr19 | 38460616 | ||||||
| chr19:38460622
|
G | C | 4 | a0001c0049t0003g0033a0001c0052t0003g0034a0003c0050t0003g0035others(1): Show | 4 | HG02080.hp2 NA18980.hp2 NA18983.hp2 others(1): Show |
intron_variant | MODIFIER | c.2577+31G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | chr19 | 38460622 | ||||||
| chr19:38460704
|
G | A | 8 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(5): Show | 8 | HG02622.hp1 HG02897.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.2577+113G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | chr19 | 38460704 | ||||||
| chr19:38460749
|
G | A | 4 | a0001c0119t0001g0189a0004c0015t0001g0098a0004c0015t0001g0187others(1): Show | 4 | HG00642.hp2 HG01884.hp1 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.2577+158G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | chr19 | 38460749 | ||||||
| chr19:38460749
|
G | T | 2 | a0002c0053t0001g0106a0022c0060t0001g0112 | 2 | HG03927.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.2577+158G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | chr19 | 38460749 | ||||||
| chr19:38460998
|
A | C | 1 | a0001c0001t0001g0088 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.2577+407A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | chr19 | 38460998 | ||||||
| chr19:38461079
|
G | A | 1 | a0001c0030t0001g0055 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.2577+488G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | chr19 | 38461079 | ||||||
| chr19:38461154
|
AAAAC | A | 113 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(110): Show | 113 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(110): Show |
intron_variant | MODIFIER | c.2577+579_2577+582d others(6): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | INFO_REALIGN_3_PRIME | chr19 | 38461154 | |||||
| chr19:38461358
|
G | A | 1 | a0001c0071t0001g0186 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.2577+767G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | chr19 | 38461358 | ||||||
| chr19:38461369
|
G | A | 2 | a0004c0084t0002g0210a0018c0083t0002g0211 | 2 | HG02922.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.2577+778G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | chr19 | 38461369 | ||||||
| chr19:38461408
|
A | G | 192 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(189): Show | 192 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(189): Show |
intron_variant | MODIFIER | c.2577+817A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | chr19 | 38461408 | ||||||
| chr19:38461658
|
C | G | 1 | a0001c0031t0001g0159 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.2577+1067C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | chr19 | 38461658 | ||||||
| chr19:38461721
|
G | GA | 89 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(86): Show | 89 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(86): Show |
intron_variant | MODIFIER | c.2577+1149dupA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | INFO_REALIGN_3_PRIME | chr19 | 38461721 | |||||
| chr19:38461721
|
G | GAA | 25 | a0001c0001t0001g0067a0001c0003t0001g0107a0001c0009t0001g0199others(22): Show | 25 | HG01099.hp2 HG01175.hp2 HG01243.hp2 others(22): Show |
intron_variant | MODIFIER | c.2577+1148_2577+114 others(6): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | INFO_REALIGN_3_PRIME | chr19 | 38461721 | |||||
| chr19:38461722
|
A | G | 1 | a0001c0003t0001g0105 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.2577+1131A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | chr19 | 38461722 | ||||||
| chr19:38461737
|
A | G | 8 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(5): Show | 8 | HG02622.hp1 HG02897.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.2577+1146A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | chr19 | 38461737 | ||||||
| chr19:38461738
|
AAAG | A | 8 | a0001c0020t0001g0185a0001c0059t0001g0184a0001c0069t0001g0139others(5): Show | 8 | HG00642.hp2 HG01884.hp1 HG02257.hp1 others(5): Show |
intron_variant | MODIFIER | c.2577+1150_2577+115 others(7): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | INFO_REALIGN_3_PRIME | chr19 | 38461738 | |||||
| chr19:38461743
|
AAGGG | A | 41 | a0001c0003t0001g0100a0001c0003t0001g0105a0001c0003t0001g0116others(38): Show | 41 | HG00639.hp2 HG00735.hp1 HG00735.hp2 others(38): Show |
intron_variant | MODIFIER | c.2577+1155_2577+115 others(8): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | INFO_REALIGN_3_PRIME | chr19 | 38461743 | |||||
| chr19:38461746
|
G | A | 9 | a0001c0020t0001g0185a0001c0020t0001g0197a0001c0059t0001g0184others(6): Show | 9 | HG00642.hp2 HG01884.hp1 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.2577+1155G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | chr19 | 38461746 | ||||||
| chr19:38461747
|
G | A | 9 | a0001c0020t0001g0185a0001c0020t0001g0197a0001c0059t0001g0184others(6): Show | 9 | HG00642.hp2 HG01884.hp1 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.2577+1156G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | chr19 | 38461747 | ||||||
| chr19:38461756
|
A | G | 11 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(8): Show | 11 | HG01099.hp2 HG01257.hp2 HG01258.hp2 others(8): Show |
intron_variant | MODIFIER | c.2577+1165A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | chr19 | 38461756 | ||||||
| chr19:38461812
|
T | C | 11 | a0004c0047t0002g0205a0004c0115t0004g0216a0006c0007t0002g0202others(8): Show | 11 | HG01891.hp1 HG02257.hp2 HG02630.hp1 others(8): Show |
intron_variant | MODIFIER | c.2577+1221T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | chr19 | 38461812 | ||||||
| chr19:38461979
|
C | T | 1 | a0001c0001t0001g0076 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.2577+1388C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | chr19 | 38461979 | ||||||
| chr19:38462004
|
G | A | 1 | a0001c0013t0001g0115 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.2577+1413G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | chr19 | 38462004 | ||||||
| chr19:38462185
|
A | G | 1 | a0018c0083t0002g0211 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.2578-1238A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | chr19 | 38462185 | ||||||
| chr19:38462210
|
G | C | 123 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(120): Show | 123 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(120): Show |
intron_variant | MODIFIER | c.2578-1213G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | chr19 | 38462210 | ||||||
| chr19:38462340
|
G | C | 2 | a0015c0086t0001g0019a0016c0106t0001g0099 | 2 | HG03139.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.2578-1083G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | chr19 | 38462340 | ||||||
| chr19:38462373
|
C | T | 4 | a0001c0119t0001g0189a0004c0015t0001g0098a0004c0015t0001g0187others(1): Show | 4 | HG00642.hp2 HG01884.hp1 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.2578-1050C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | chr19 | 38462373 | ||||||
| chr19:38462381
|
A | G | 3 | a0001c0003t0002g0206a0001c0003t0002g0207a0033c0043t0002g0208 | 3 | HG02615.hp1 HG02723.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.2578-1042A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | chr19 | 38462381 | ||||||
| chr19:38462415
|
G | C | 102 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(99): Show | 102 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(99): Show |
intron_variant | MODIFIER | c.2578-1008G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | chr19 | 38462415 | ||||||
| chr19:38462469
|
G | T | 113 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(110): Show | 113 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(110): Show |
intron_variant | MODIFIER | c.2578-954G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | chr19 | 38462469 | ||||||
| chr19:38462511
|
C | T | 3 | a0004c0047t0002g0205a0019c0080t0001g0142a0020c0081t0001g0143 | 3 | HG02647.hp2 HG03579.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.2578-912C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | chr19 | 38462511 | ||||||
| chr19:38462570
|
A | T | 42 | a0001c0003t0001g0100a0001c0003t0001g0105a0001c0003t0001g0116others(39): Show | 42 | HG00639.hp2 HG00735.hp1 HG00735.hp2 others(39): Show |
intron_variant | MODIFIER | c.2578-853A>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | chr19 | 38462570 | ||||||
| chr19:38462604
|
AG | A | 47 | a0001c0003t0001g0100a0001c0003t0001g0105a0001c0003t0001g0116others(44): Show | 47 | HG00639.hp2 HG00735.hp1 HG00735.hp2 others(44): Show |
intron_variant | MODIFIER | c.2578-817delG | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | INFO_REALIGN_3_PRIME | chr19 | 38462604 | |||||
| chr19:38462861
|
G | A | 8 | a0001c0049t0003g0033a0001c0052t0003g0034a0001c0071t0001g0186others(5): Show | 8 | HG02080.hp2 HG03130.hp1 HG03453.hp1 others(5): Show |
intron_variant | MODIFIER | c.2578-562G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | chr19 | 38462861 | ||||||
| chr19:38462886
|
C | G | 4 | a0006c0007t0002g0202a0006c0007t0002g0203a0006c0007t0002g0212others(1): Show | 4 | HG01891.hp1 HG02257.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.2578-537C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | chr19 | 38462886 | ||||||
| chr19:38462891
|
C | CT | 57 | a0001c0003t0001g0100a0001c0003t0001g0105a0001c0004t0001g0097others(54): Show | 57 | HG00639.hp2 HG00642.hp2 HG00733.hp2 others(54): Show |
intron_variant | MODIFIER | c.2578-510dupT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | INFO_REALIGN_3_PRIME | chr19 | 38462891 | |||||
| chr19:38462891
|
C | CTT | 16 | a0001c0004t0001g0096a0001c0009t0001g0200a0001c0019t0002g0218others(13): Show | 16 | HG00735.hp2 HG01123.hp2 HG01175.hp1 others(13): Show |
intron_variant | MODIFIER | c.2578-511_2578-510d others(4): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | INFO_REALIGN_3_PRIME | chr19 | 38462891 | |||||
| chr19:38462891
|
C | CTTT | 92 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(89): Show | 92 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(89): Show |
intron_variant | MODIFIER | c.2578-512_2578-510d others(5): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | INFO_REALIGN_3_PRIME | chr19 | 38462891 | |||||
| chr19:38462891
|
C | CTTTT | 25 | a0001c0001t0001g0038a0001c0001t0001g0058a0001c0001t0001g0064others(22): Show | 25 | HG01071.hp1 HG01071.hp2 HG01169.hp2 others(22): Show |
intron_variant | MODIFIER | c.2578-513_2578-510d others(6): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | INFO_REALIGN_3_PRIME | chr19 | 38462891 | |||||
| chr19:38462891
|
CTTTTTTT | C | 7 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0058t0001g0001others(4): Show | 7 | HG02622.hp1 HG02897.hp2 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.2578-516_2578-510d others(9): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | INFO_REALIGN_3_PRIME | chr19 | 38462891 | |||||
| chr19:38463043
|
C | T | 1 | a0005c0107t0001g0042 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.2578-380C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | chr19 | 38463043 | ||||||
| chr19:38463135
|
C | T | 1 | a0005c0088t0001g0053 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.2578-288C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | chr19 | 38463135 | ||||||
| chr19:38463137
|
A | G | 105 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(102): Show | 105 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(102): Show |
intron_variant | MODIFIER | c.2578-286A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | chr19 | 38463137 | ||||||
| chr19:38463141
|
G | GC | 23 | a0001c0003t0001g0105a0001c0004t0001g0096a0001c0005t0001g0154others(20): Show | 23 | HG01175.hp1 HG01978.hp1 HG01978.hp2 others(20): Show |
intron_variant | MODIFIER | c.2578-268dupC | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | INFO_REALIGN_3_PRIME | chr19 | 38463141 | |||||
| chr19:38463141
|
G | GCC | 19 | a0001c0001t0001g0015a0001c0001t0001g0018a0001c0002t0001g0081others(16): Show | 19 | HG02074.hp2 HG02559.hp2 HG02622.hp2 others(16): Show |
intron_variant | MODIFIER | c.2578-269_2578-268d others(4): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | INFO_REALIGN_3_PRIME | chr19 | 38463141 | |||||
| chr19:38463141
|
G | GCCC | 49 | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0014others(46): Show | 49 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(46): Show |
intron_variant | MODIFIER | c.2578-270_2578-268d others(5): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | INFO_REALIGN_3_PRIME | chr19 | 38463141 | |||||
| chr19:38463141
|
G | GCCCC | 39 | a0001c0001t0001g0011a0001c0001t0001g0028a0001c0001t0001g0029others(36): Show | 39 | HG00609.hp2 HG00639.hp1 HG01070.hp2 others(36): Show |
intron_variant | MODIFIER | c.2578-271_2578-268d others(6): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | INFO_REALIGN_3_PRIME | chr19 | 38463141 | |||||
| chr19:38463141
|
G | GCCCCC | 25 | a0001c0001t0001g0039a0001c0001t0001g0075a0001c0001t0001g0079others(22): Show | 25 | HG00639.hp2 HG01123.hp2 HG01169.hp2 others(22): Show |
intron_variant | MODIFIER | c.2578-272_2578-268d others(7): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | INFO_REALIGN_3_PRIME | chr19 | 38463141 | |||||
| chr19:38463151
|
C | CCCCCCCC others(6): Show |
1 | a0001c0034t0001g0180 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.2578-268_2578-267i others(15): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | INFO_REALIGN_3_PRIME | chr19 | 38463151 | |||||
| chr19:38463151
|
C | CCCCCCCC others(3): Show |
1 | a0001c0009t0001g0199 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.2578-268_2578-267i others(12): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | INFO_REALIGN_3_PRIME | chr19 | 38463151 | |||||
| chr19:38463152
|
C | A | 1 | a0001c0004t0001g0097 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.2578-271C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | chr19 | 38463152 | ||||||
| chr19:38463153
|
C | CG | 2 | a0002c0025t0001g0162a0002c0025t0001g0170 | 2 | HG03669.hp2 HG03834.hp1 |
intron_variant | MODIFIER | c.2578-270_2578-269i others(3): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | chr19 | 38463153 | ||||||
| chr19:38463155
|
C | A | 5 | a0004c0084t0002g0210a0006c0007t0002g0202a0006c0007t0002g0203others(2): Show | 5 | HG01891.hp1 HG02257.hp2 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.2578-268C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | chr19 | 38463155 | ||||||
| chr19:38463163
|
C | T | 1 | a0001c0076t0001g0164 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.2578-260C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | chr19 | 38463163 | ||||||
| chr19:38463169
|
A | G | 20 | a0001c0002t0001g0063a0001c0002t0001g0080a0001c0002t0001g0081others(17): Show | 20 | HG00609.hp2 HG02027.hp2 HG02056.hp1 others(17): Show |
intron_variant | MODIFIER | c.2578-254A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | chr19 | 38463169 | ||||||
| chr19:38463201
|
G | T | 2 | a0001c0054t0001g0136a0001c0055t0001g0137 | 2 | HG02630.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.2578-222G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | chr19 | 38463201 | ||||||
| chr19:38463313
|
G | A | 1 | a0004c0115t0004g0216 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2578-110G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | chr19 | 38463313 | ||||||
| chr19:38463356
|
A | G | 167 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(164): Show | 167 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(164): Show |
intron_variant | MODIFIER | c.2578-67A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | chr19 | 38463356 | ||||||
| chr19:38463400
|
C | G | 6 | a0001c0002t0001g0087a0001c0049t0003g0033a0001c0052t0003g0034others(3): Show | 6 | HG02080.hp2 NA18952.hp1 NA18966.hp2 others(3): Show |
intron_variant | MODIFIER | c.2578-23C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 20/105 | chr19 | 38463400 | ||||||
| chr19:38463558
|
C | T | 2 | a0001c0003t0002g0206a0001c0003t0002g0207 | 2 | HG02615.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.2682+31C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 21/105 | chr19 | 38463558 | ||||||
| chr19:38463600
|
G | A | 1 | a0001c0108t0001g0138 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2682+73G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 21/105 | chr19 | 38463600 | ||||||
| chr19:38463925
|
C | T | 1 | a0002c0008t0001g0172 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.2786+75C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 22/105 | chr19 | 38463925 | ||||||
| chr19:38463979
|
T | G | 25 | a0001c0014t0001g0004a0001c0014t0001g0024a0001c0014t0001g0025others(22): Show | 25 | HG00642.hp2 HG01070.hp1 HG01884.hp1 others(22): Show |
intron_variant | MODIFIER | c.2786+129T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 22/105 | chr19 | 38463979 | ||||||
| chr19:38463999
|
G | A | 9 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(6): Show | 9 | HG02109.hp2 HG02257.hp1 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.2786+149G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 22/105 | chr19 | 38463999 | ||||||
| chr19:38464006
|
G | A | 2 | a0001c0001t0001g0058a0001c0027t0001g0059 | 2 | HG01981.hp1 HG02293.hp2 |
intron_variant | MODIFIER | c.2786+156G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 22/105 | chr19 | 38464006 | ||||||
| chr19:38464048
|
G | A | 2 | a0001c0033t0001g0158a0001c0071t0001g0186 | 2 | HG01099.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.2786+198G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 22/105 | chr19 | 38464048 | ||||||
| chr19:38464097
|
C | T | 2 | a0001c0054t0001g0136a0001c0055t0001g0137 | 2 | HG02630.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.2786+247C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 22/105 | chr19 | 38464097 | ||||||
| chr19:38464106
|
G | A | 1 | a0001c0089t0001g0046 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.2786+256G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 22/105 | chr19 | 38464106 | ||||||
| chr19:38464278
|
G | GA | 12 | a0001c0001t0001g0039a0001c0005t0001g0154a0001c0005t0001g0155others(9): Show | 12 | HG00733.hp2 HG01099.hp2 HG01123.hp1 others(9): Show |
intron_variant | MODIFIER | c.2787-330dupA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 22/105 | INFO_REALIGN_3_PRIME | chr19 | 38464278 | |||||
| chr19:38464278
|
GA | G | 8 | a0001c0001t0001g0038a0003c0051t0003g0036a0003c0100t0001g0150others(5): Show | 8 | HG01071.hp1 HG01071.hp2 HG03130.hp2 others(5): Show |
intron_variant | MODIFIER | c.2787-330delA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 22/105 | INFO_REALIGN_3_PRIME | chr19 | 38464278 | |||||
| chr19:38464278
|
GAA | G | 6 | a0001c0110t0001g0157a0004c0084t0002g0210a0017c0041t0001g0117others(3): Show | 6 | HG02647.hp2 HG02922.hp2 NA18522.hp2 others(3): Show |
intron_variant | MODIFIER | c.2787-331_2787-330d others(4): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 22/105 | INFO_REALIGN_3_PRIME | chr19 | 38464278 | |||||
| chr19:38464278
|
GAAAA | G | 6 | a0001c0001t0001g0069a0001c0003t0001g0100a0001c0094t0001g0066others(3): Show | 6 | HG01106.hp1 HG01243.hp2 HG01433.hp1 others(3): Show |
intron_variant | MODIFIER | c.2787-333_2787-330d others(6): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 22/105 | INFO_REALIGN_3_PRIME | chr19 | 38464278 | |||||
| chr19:38464278
|
GAAAAA | G | 89 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(86): Show | 89 | HG00438.hp2 HG00609.hp1 HG00609.hp2 others(86): Show |
intron_variant | MODIFIER | c.2787-334_2787-330d others(7): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 22/105 | INFO_REALIGN_3_PRIME | chr19 | 38464278 | |||||
| chr19:38464278
|
GAAAAAA | G | 10 | a0001c0001t0001g0014a0001c0001t0001g0018a0001c0001t0001g0058others(7): Show | 10 | HG01169.hp2 HG01257.hp1 HG02293.hp2 others(7): Show |
intron_variant | MODIFIER | c.2787-335_2787-330d others(8): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 22/105 | INFO_REALIGN_3_PRIME | chr19 | 38464278 | |||||
| chr19:38464278
|
GAAAAAAA others(4): Show |
G | 39 | a0001c0004t0001g0096a0001c0004t0001g0097a0001c0004t0001g0101others(36): Show | 39 | HG00438.hp1 HG00639.hp2 HG00735.hp2 others(36): Show |
intron_variant | MODIFIER | c.2787-340_2787-330d others(13): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 22/105 | INFO_REALIGN_3_PRIME | chr19 | 38464278 | |||||
| chr19:38464278
|
GAAAAAAA others(5): Show |
G | 7 | a0001c0009t0001g0201a0001c0022t0001g0051a0001c0044t0001g0048others(4): Show | 7 | HG01099.hp1 HG02622.hp1 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.2787-341_2787-330d others(14): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 22/105 | INFO_REALIGN_3_PRIME | chr19 | 38464278 | |||||
| chr19:38464278
|
GAAAAAAA others(6): Show |
G | 3 | a0007c0037t0002g0214a0007c0038t0002g0215a0007c0039t0001g0031 | 3 | HG03453.hp1 HG03471.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.2787-342_2787-330d others(15): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 22/105 | INFO_REALIGN_3_PRIME | chr19 | 38464278 | |||||
| chr19:38464374
|
A | G | 12 | a0001c0110t0001g0157a0001c0119t0001g0189a0004c0015t0001g0098others(9): Show | 12 | HG00642.hp2 HG01109.hp1 HG01884.hp1 others(9): Show |
intron_variant | MODIFIER | c.2787-265A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 22/105 | chr19 | 38464374 | ||||||
| chr19:38464573
|
G | A | 3 | a0001c0019t0002g0217a0001c0019t0002g0218a0030c0048t0001g0118 | 3 | HG01070.hp1 HG03942.hp1 NA19067.hp1 |
intron_variant | MODIFIER | c.2787-66G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 22/105 | chr19 | 38464573 | ||||||
| chr19:38464598
|
C | G | 1 | a0001c0071t0001g0186 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.2787-41C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 22/105 | chr19 | 38464598 | ||||||
| chr19:38464757
|
G | C | 1 | a0001c0001t0001g0076 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.2870+35G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 23/105 | chr19 | 38464757 | ||||||
| chr19:38464860
|
T | G | 2 | a0004c0072t0001g0125a0014c0073t0001g0126 | 2 | HG01109.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.2870+138T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 23/105 | chr19 | 38464860 | ||||||
| chr19:38464864
|
G | A | 1 | a0004c0084t0002g0210 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.2870+142G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 23/105 | chr19 | 38464864 | ||||||
| chr19:38464943
|
G | A | 104 | a0001c0004t0001g0096a0001c0004t0001g0097a0001c0004t0001g0101others(101): Show | 104 | HG00438.hp1 HG00639.hp2 HG00733.hp2 others(101): Show |
intron_variant | MODIFIER | c.2870+221G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 23/105 | chr19 | 38464943 | ||||||
| chr19:38465021
|
G | A | 2 | a0004c0047t0002g0205a0016c0106t0001g0099 | 2 | HG03139.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.2870+299G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 23/105 | chr19 | 38465021 | ||||||
| chr19:38465105
|
G | A | 7 | a0001c0014t0001g0004a0001c0014t0001g0024a0001c0014t0001g0025others(4): Show | 7 | HG01891.hp1 HG01891.hp2 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.2870+383G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 23/105 | chr19 | 38465105 | ||||||
| chr19:38465136
|
C | T | 2 | a0015c0086t0001g0019a0017c0041t0001g0117 | 2 | HG03209.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2870+414C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 23/105 | chr19 | 38465136 | ||||||
| chr19:38465323
|
G | C | 1 | a0004c0084t0002g0210 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.2870+601G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 23/105 | chr19 | 38465323 | ||||||
| chr19:38465335
|
G | T | 10 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(7): Show | 10 | HG02109.hp2 HG02257.hp1 HG02559.hp2 others(7): Show |
intron_variant | MODIFIER | c.2870+613G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 23/105 | chr19 | 38465335 | ||||||
| chr19:38465536
|
G | A | 99 | a0001c0004t0001g0096a0001c0004t0001g0097a0001c0004t0001g0101others(96): Show | 99 | HG00438.hp1 HG00639.hp2 HG00733.hp2 others(96): Show |
intron_variant | MODIFIER | c.2871-555G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 23/105 | chr19 | 38465536 | ||||||
| chr19:38465657
|
C | T | 2 | a0001c0054t0001g0136a0001c0055t0001g0137 | 2 | HG02630.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.2871-434C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 23/105 | chr19 | 38465657 | ||||||
| chr19:38465665
|
G | A | 3 | a0008c0010t0001g0006a0008c0010t0001g0007a0008c0010t0001g0008 | 3 | HG02965.hp1 HG03139.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.2871-426G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 23/105 | chr19 | 38465665 | ||||||
| chr19:38465709
|
A | G | 2 | a0001c0054t0001g0136a0001c0055t0001g0137 | 2 | HG02630.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.2871-382A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 23/105 | chr19 | 38465709 | ||||||
| chr19:38465738
|
T | C | 1 | a0001c0001t0001g0152 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.2871-353T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 23/105 | chr19 | 38465738 | ||||||
| chr19:38465826
|
C | T | 1 | a0022c0060t0001g0112 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.2871-265C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 23/105 | chr19 | 38465826 | ||||||
| chr19:38465847
|
C | G | 2 | a0004c0047t0002g0205a0016c0106t0001g0099 | 2 | HG03139.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.2871-244C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 23/105 | chr19 | 38465847 | ||||||
| chr19:38465866
|
G | A | 5 | a0004c0047t0002g0205a0007c0037t0002g0214a0007c0038t0002g0215others(2): Show | 5 | HG03139.hp2 HG03453.hp1 HG03471.hp1 others(2): Show |
intron_variant | MODIFIER | c.2871-225G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 23/105 | chr19 | 38465866 | ||||||
| chr19:38465980
|
G | C | 1 | a0004c0084t0002g0210 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.2871-111G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 23/105 | chr19 | 38465980 | ||||||
| chr19:38466086
|
C | T | 3 | a0001c0018t0001g0160a0001c0018t0001g0161a0001c0111t0001g0140 | 3 | HG01255.hp2 HG01257.hp2 HG01258.hp2 |
splice_region_variant&intron_variant | LOW | c.2871-5C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 23/105 | chr19 | 38466086 | ||||||
| chr19:38466499
|
A | G | 7 | a0001c0014t0001g0004a0001c0014t0001g0024a0001c0014t0001g0025others(4): Show | 7 | HG01891.hp1 HG01891.hp2 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.3178+101A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 24/105 | chr19 | 38466499 | ||||||
| chr19:38466501
|
C | CT | 28 | a0001c0002t0001g0085a0001c0002t0001g0194a0001c0013t0001g0060others(25): Show | 28 | HG00438.hp2 HG00642.hp2 HG01255.hp2 others(25): Show |
intron_variant | MODIFIER | c.3178+124dupT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 24/105 | INFO_REALIGN_3_PRIME | chr19 | 38466501 | |||||
| chr19:38466501
|
C | CTT | 6 | a0004c0047t0002g0205a0004c0084t0002g0210a0007c0037t0002g0214others(3): Show | 6 | HG02922.hp2 HG03139.hp2 HG03453.hp1 others(3): Show |
intron_variant | MODIFIER | c.3178+123_3178+124d others(4): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 24/105 | INFO_REALIGN_3_PRIME | chr19 | 38466501 | |||||
| chr19:38466501
|
CT | C | 12 | a0001c0001t0001g0010a0001c0004t0001g0097a0001c0011t0001g0021others(9): Show | 12 | HG01070.hp1 HG01099.hp1 HG01109.hp1 others(9): Show |
intron_variant | MODIFIER | c.3178+124delT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 24/105 | INFO_REALIGN_3_PRIME | chr19 | 38466501 | |||||
| chr19:38466743
|
C | T | 1 | a0001c0054t0001g0136 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.3178+345C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 24/105 | chr19 | 38466743 | ||||||
| chr19:38466780
|
C | T | 100 | a0001c0004t0001g0096a0001c0004t0001g0097a0001c0004t0001g0101others(97): Show | 100 | HG00438.hp1 HG00639.hp2 HG00733.hp2 others(97): Show |
intron_variant | MODIFIER | c.3178+382C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 24/105 | chr19 | 38466780 | ||||||
| chr19:38466790
|
T | C | 1 | a0004c0084t0002g0210 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.3178+392T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 24/105 | chr19 | 38466790 | ||||||
| chr19:38466906
|
A | G | 6 | a0004c0047t0002g0205a0004c0115t0004g0216a0007c0037t0002g0214others(3): Show | 6 | HG02630.hp1 HG03139.hp2 HG03453.hp1 others(3): Show |
intron_variant | MODIFIER | c.3178+508A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 24/105 | chr19 | 38466906 | ||||||
| chr19:38466930
|
C | T | 1 | a0001c0098t0001g0071 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.3178+532C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 24/105 | chr19 | 38466930 | ||||||
| chr19:38466931
|
G | T | 113 | a0001c0004t0001g0096a0001c0004t0001g0097a0001c0004t0001g0101others(110): Show | 113 | HG00438.hp1 HG00639.hp2 HG00733.hp2 others(110): Show |
intron_variant | MODIFIER | c.3178+533G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 24/105 | chr19 | 38466931 | ||||||
| chr19:38467026
|
A | G | 5 | a0004c0015t0001g0098a0004c0015t0001g0187a0004c0015t0001g0188others(2): Show | 5 | HG01884.hp1 HG02615.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.3179-584A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 24/105 | chr19 | 38467026 | ||||||
| chr19:38467169
|
C | A | 2 | a0010c0021t0001g0177a0010c0021t0001g0178 | 2 | HG03017.hp2 HG03710.hp2 |
intron_variant | MODIFIER | c.3179-441C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 24/105 | chr19 | 38467169 | ||||||
| chr19:38467169
|
C | T | 3 | a0001c0019t0002g0217a0001c0019t0002g0218a0030c0048t0001g0118 | 3 | HG01070.hp1 HG03942.hp1 NA19067.hp1 |
intron_variant | MODIFIER | c.3179-441C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 24/105 | chr19 | 38467169 | ||||||
| chr19:38467413
|
C | G | 1 | a0001c0022t0001g0052 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.3179-197C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 24/105 | chr19 | 38467413 | ||||||
| chr19:38467457
|
C | T | 10 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(7): Show | 10 | HG02109.hp2 HG02257.hp1 HG02559.hp2 others(7): Show |
intron_variant | MODIFIER | c.3179-153C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 24/105 | chr19 | 38467457 | ||||||
| chr19:38467460
|
A | T | 1 | a0001c0022t0001g0052 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.3179-150A>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 24/105 | chr19 | 38467460 | ||||||
| chr19:38467488
|
C | T | 2 | a0001c0110t0001g0157a0023c0109t0001g0020 | 2 | NA18522.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.3179-122C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 24/105 | chr19 | 38467488 | ||||||
| chr19:38467551
|
G | A | 1 | a0008c0010t0001g0007 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.3179-59G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 24/105 | chr19 | 38467551 | ||||||
| chr19:38467984
|
A | G | 6 | a0004c0047t0002g0205a0004c0084t0002g0210a0007c0037t0002g0214others(3): Show | 6 | HG02922.hp2 HG03139.hp2 HG03453.hp1 others(3): Show |
intron_variant | MODIFIER | c.3381+172A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 25/105 | chr19 | 38467984 | ||||||
| chr19:38468025
|
T | TCATC | 9 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0029t0001g0074others(6): Show | 9 | HG01070.hp1 HG02698.hp1 HG03942.hp1 others(6): Show |
intron_variant | MODIFIER | c.3381+234_3381+237d others(6): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 25/105 | INFO_REALIGN_3_PRIME | chr19 | 38468025 | |||||
| chr19:38468044
|
TCCATCAT others(1): Show |
T | 6 | a0004c0047t0002g0205a0008c0010t0001g0006a0008c0010t0001g0007others(3): Show | 6 | HG02965.hp1 HG03139.hp1 HG03139.hp2 others(3): Show |
intron_variant | MODIFIER | c.3381+234_3381+241d others(10): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 25/105 | INFO_REALIGN_3_PRIME | chr19 | 38468044 | |||||
| chr19:38468044
|
TCCATCAT others(5): Show |
T | 112 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(109): Show | 112 | HG00438.hp2 HG00609.hp1 HG00609.hp2 others(109): Show |
intron_variant | MODIFIER | c.3381+234_3381+245d others(14): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 25/105 | INFO_REALIGN_3_PRIME | chr19 | 38468044 | |||||
| chr19:38468044
|
TCCATCAT others(17): Show |
T | 1 | a0018c0083t0002g0211 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.3381+234_3381+257d others(26): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 25/105 | INFO_REALIGN_3_PRIME | chr19 | 38468044 | |||||
| chr19:38468045
|
CCAT | C | 17 | a0001c0004t0001g0096a0001c0004t0001g0097a0001c0004t0001g0119others(14): Show | 17 | HG01175.hp1 HG01255.hp2 HG01257.hp2 others(14): Show |
intron_variant | MODIFIER | c.3381+238_3381+240d others(5): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 25/105 | INFO_REALIGN_3_PRIME | chr19 | 38468045 | |||||
| chr19:38468048
|
T | TCATC | 6 | a0001c0049t0003g0033a0001c0052t0003g0034a0002c0008t0001g0175others(3): Show | 6 | HG01943.hp2 HG02080.hp2 HG02683.hp2 others(3): Show |
intron_variant | MODIFIER | c.3381+279_3381+282d others(6): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 25/105 | INFO_REALIGN_3_PRIME | chr19 | 38468048 | |||||
| chr19:38468048
|
TCATC | T | 4 | a0001c0071t0001g0186a0007c0037t0002g0214a0007c0038t0002g0215others(1): Show | 4 | HG03130.hp1 HG03453.hp1 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.3381+279_3381+282d others(6): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 25/105 | INFO_REALIGN_3_PRIME | chr19 | 38468048 | |||||
| chr19:38468048
|
TCATCCAT others(13): Show |
T | 10 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(7): Show | 10 | HG02109.hp2 HG02257.hp1 HG02559.hp2 others(7): Show |
intron_variant | MODIFIER | c.3381+263_3381+282d others(22): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 25/105 | INFO_REALIGN_3_PRIME | chr19 | 38468048 | |||||
| chr19:38468050
|
A | C | 20 | a0001c0004t0001g0101a0001c0004t0001g0103a0001c0023t0001g0109others(17): Show | 20 | HG00438.hp1 HG00639.hp2 HG00735.hp2 others(17): Show |
intron_variant | MODIFIER | c.3381+238A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 25/105 | chr19 | 38468050 | ||||||
| chr19:38468051
|
T | A | 20 | a0001c0004t0001g0101a0001c0004t0001g0103a0001c0023t0001g0109others(17): Show | 20 | HG00438.hp1 HG00639.hp2 HG00735.hp2 others(17): Show |
intron_variant | MODIFIER | c.3381+239T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 25/105 | chr19 | 38468051 | ||||||
| chr19:38468052
|
C | T | 20 | a0001c0004t0001g0101a0001c0004t0001g0103a0001c0023t0001g0109others(17): Show | 20 | HG00438.hp1 HG00639.hp2 HG00735.hp2 others(17): Show |
intron_variant | MODIFIER | c.3381+240C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 25/105 | chr19 | 38468052 | ||||||
| chr19:38468055
|
TC | T | 17 | a0001c0004t0001g0096a0001c0004t0001g0097a0001c0004t0001g0119others(14): Show | 17 | HG01175.hp1 HG01255.hp2 HG01257.hp2 others(14): Show |
intron_variant | MODIFIER | c.3381+245delC | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 25/105 | INFO_REALIGN_3_PRIME | chr19 | 38468055 | |||||
| chr19:38468095
|
ACCATCCA others(1): Show |
A | 117 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(114): Show | 117 | HG00438.hp2 HG00609.hp1 HG00609.hp2 others(114): Show |
intron_variant | MODIFIER | c.3381+287_3381+294d others(10): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 25/105 | INFO_REALIGN_3_PRIME | chr19 | 38468095 | |||||
| chr19:38468207
|
T | TCATC | 5 | a0001c0020t0001g0185a0001c0020t0001g0197a0001c0056t0001g0135others(2): Show | 5 | HG02109.hp2 HG02257.hp1 HG02559.hp2 others(2): Show |
intron_variant | MODIFIER | c.3381+424_3381+427d others(6): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 25/105 | INFO_REALIGN_3_PRIME | chr19 | 38468207 | |||||
| chr19:38468330
|
ATCCATCC others(21): Show |
A | 1 | a0001c0036t0001g0111 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.3381+532_3381+559d others(30): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 25/105 | INFO_REALIGN_3_PRIME | chr19 | 38468330 | |||||
| chr19:38468423
|
C | T | 4 | a0001c0049t0003g0033a0001c0052t0003g0034a0003c0050t0003g0035others(1): Show | 4 | HG02080.hp2 NA18980.hp2 NA18983.hp2 others(1): Show |
intron_variant | MODIFIER | c.3382-543C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 25/105 | chr19 | 38468423 | ||||||
| chr19:38468468
|
C | A | 3 | a0004c0015t0001g0098a0004c0015t0001g0187a0004c0015t0001g0188 | 3 | HG01884.hp1 HG02615.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.3382-498C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 25/105 | chr19 | 38468468 | ||||||
| chr19:38468556
|
T | G | 34 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(31): Show | 34 | HG00733.hp2 HG01099.hp2 HG01123.hp1 others(31): Show |
intron_variant | MODIFIER | c.3382-410T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 25/105 | chr19 | 38468556 | ||||||
| chr19:38469207
|
C | T | 6 | a0004c0047t0002g0205a0004c0115t0004g0216a0007c0037t0002g0214others(3): Show | 6 | HG02630.hp1 HG03139.hp2 HG03453.hp1 others(3): Show |
intron_variant | MODIFIER | c.3556+67C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 26/105 | chr19 | 38469207 | ||||||
| chr19:38469231
|
C | T | 5 | a0001c0049t0003g0033a0001c0052t0003g0034a0001c0066t0001g0092others(2): Show | 5 | HG02080.hp2 NA18951.hp2 NA18980.hp2 others(2): Show |
intron_variant | MODIFIER | c.3557-74C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 26/105 | chr19 | 38469231 | ||||||
| chr19:38469667
|
C | G | 13 | a0004c0015t0001g0098a0004c0015t0001g0187a0004c0015t0001g0188others(10): Show | 13 | HG01109.hp1 HG01884.hp1 HG02615.hp2 others(10): Show |
intron_variant | MODIFIER | c.3765+154C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | chr19 | 38469667 | ||||||
| chr19:38469695
|
C | T | 2 | a0001c0054t0001g0136a0001c0055t0001g0137 | 2 | HG02630.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.3765+182C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | chr19 | 38469695 | ||||||
| chr19:38469847
|
C | T | 2 | a0001c0110t0001g0157a0023c0109t0001g0020 | 2 | NA18522.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.3765+334C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | chr19 | 38469847 | ||||||
| chr19:38469910
|
TA | T | 36 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(33): Show | 36 | HG00733.hp2 HG01099.hp2 HG01109.hp1 others(33): Show |
intron_variant | MODIFIER | c.3765+408delA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | INFO_REALIGN_3_PRIME | chr19 | 38469910 | |||||
| chr19:38470090
|
C | T | 3 | a0001c0004t0001g0096a0001c0004t0001g0097a0001c0004t0001g0119 | 3 | HG01175.hp1 HG02559.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.3765+577C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | chr19 | 38470090 | ||||||
| chr19:38470166
|
C | CA | 9 | a0001c0001t0001g0151a0001c0062t0001g0050a0001c0063t0001g0049others(6): Show | 9 | HG00639.hp2 HG00735.hp2 HG03130.hp2 others(6): Show |
intron_variant | MODIFIER | c.3765+667dupA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | INFO_REALIGN_3_PRIME | chr19 | 38470166 | |||||
| chr19:38470261
|
T | A | 8 | a0001c0001t0001g0018a0001c0001t0001g0022a0001c0001t0001g0026others(5): Show | 8 | HG02809.hp1 HG02897.hp1 HG02970.hp2 others(5): Show |
intron_variant | MODIFIER | c.3765+748T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | chr19 | 38470261 | ||||||
| chr19:38470424
|
G | A | 1 | a0001c0005t0001g0176 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.3765+911G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | chr19 | 38470424 | ||||||
| chr19:38470438
|
G | GA | 14 | a0001c0002t0001g0091a0001c0004t0001g0096a0001c0004t0001g0097others(11): Show | 14 | HG01175.hp1 HG02080.hp2 HG02109.hp2 others(11): Show |
intron_variant | MODIFIER | c.3765+943dupA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | INFO_REALIGN_3_PRIME | chr19 | 38470438 | |||||
| chr19:38470589
|
C | T | 1 | a0001c0071t0001g0186 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.3765+1076C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | chr19 | 38470589 | ||||||
| chr19:38470604
|
G | A | 14 | a0004c0015t0001g0098a0004c0015t0001g0187a0004c0015t0001g0188others(11): Show | 14 | HG01109.hp1 HG01884.hp1 HG02615.hp2 others(11): Show |
intron_variant | MODIFIER | c.3765+1091G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | chr19 | 38470604 | ||||||
| chr19:38470635
|
C | G | 2 | a0001c0054t0001g0136a0001c0055t0001g0137 | 2 | HG02630.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.3765+1122C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | chr19 | 38470635 | ||||||
| chr19:38470660
|
T | C | 1 | a0001c0071t0001g0186 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.3765+1147T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | chr19 | 38470660 | ||||||
| chr19:38470894
|
G | A | 23 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(20): Show | 23 | HG00733.hp2 HG01099.hp2 HG01123.hp1 others(20): Show |
intron_variant | MODIFIER | c.3765+1381G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | chr19 | 38470894 | ||||||
| chr19:38470897
|
G | A | 1 | a0001c0089t0001g0046 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.3765+1384G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | chr19 | 38470897 | ||||||
| chr19:38470980
|
G | A | 14 | a0004c0015t0001g0098a0004c0015t0001g0187a0004c0015t0001g0188others(11): Show | 14 | HG01109.hp1 HG01884.hp1 HG02615.hp2 others(11): Show |
intron_variant | MODIFIER | c.3765+1467G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | chr19 | 38470980 | ||||||
| chr19:38471271
|
G | A | 14 | a0004c0015t0001g0098a0004c0015t0001g0187a0004c0015t0001g0188others(11): Show | 14 | HG01109.hp1 HG01884.hp1 HG02615.hp2 others(11): Show |
intron_variant | MODIFIER | c.3765+1758G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | chr19 | 38471271 | ||||||
| chr19:38471396
|
G | A | 2 | a0004c0015t0001g0187a0004c0015t0001g0188 | 2 | HG01884.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.3765+1883G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | chr19 | 38471396 | ||||||
| chr19:38471478
|
C | T | 5 | a0001c0049t0003g0033a0001c0052t0003g0034a0001c0066t0001g0092others(2): Show | 5 | HG02080.hp2 NA18951.hp2 NA18980.hp2 others(2): Show |
intron_variant | MODIFIER | c.3766-1899C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | chr19 | 38471478 | ||||||
| chr19:38471666
|
C | T | 34 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(31): Show | 34 | HG00733.hp2 HG01099.hp2 HG01123.hp1 others(31): Show |
intron_variant | MODIFIER | c.3766-1711C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | chr19 | 38471666 | ||||||
| chr19:38471806
|
G | T | 1 | a0004c0084t0002g0210 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.3766-1571G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | chr19 | 38471806 | ||||||
| chr19:38471843
|
A | G | 3 | a0004c0047t0002g0205a0004c0084t0002g0210a0016c0106t0001g0099 | 3 | HG02922.hp2 HG03139.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.3766-1534A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | chr19 | 38471843 | ||||||
| chr19:38471887
|
G | A | 1 | a0001c0001t0001g0016 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.3766-1490G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | chr19 | 38471887 | ||||||
| chr19:38471899
|
C | CA | 37 | a0001c0001t0001g0015a0001c0001t0001g0039a0001c0002t0001g0091others(34): Show | 37 | HG00733.hp2 HG01099.hp1 HG01099.hp2 others(34): Show |
intron_variant | MODIFIER | c.3766-1457dupA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | INFO_REALIGN_3_PRIME | chr19 | 38471899 | |||||
| chr19:38471899
|
C | CAA | 14 | a0002c0008t0001g0172a0002c0008t0001g0175a0002c0025t0001g0170others(11): Show | 14 | HG01109.hp1 HG01884.hp1 HG02615.hp2 others(11): Show |
intron_variant | MODIFIER | c.3766-1458_3766-145 others(6): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | INFO_REALIGN_3_PRIME | chr19 | 38471899 | |||||
| chr19:38471899
|
CA | C | 10 | a0001c0001t0001g0018a0001c0002t0001g0133a0001c0005t0001g0156others(7): Show | 10 | HG01071.hp2 HG02630.hp2 HG02897.hp1 others(7): Show |
intron_variant | MODIFIER | c.3766-1457delA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | INFO_REALIGN_3_PRIME | chr19 | 38471899 | |||||
| chr19:38471899
|
CAA | C | 10 | a0001c0110t0001g0157a0003c0050t0003g0035a0003c0051t0003g0036others(7): Show | 10 | HG02922.hp2 HG03139.hp2 HG03453.hp1 others(7): Show |
intron_variant | MODIFIER | c.3766-1458_3766-145 others(6): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | INFO_REALIGN_3_PRIME | chr19 | 38471899 | |||||
| chr19:38472024
|
A | G | 14 | a0004c0015t0001g0098a0004c0015t0001g0187a0004c0015t0001g0188others(11): Show | 14 | HG01109.hp1 HG01884.hp1 HG02615.hp2 others(11): Show |
intron_variant | MODIFIER | c.3766-1353A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | chr19 | 38472024 | ||||||
| chr19:38472316
|
G | A | 3 | a0004c0047t0002g0205a0004c0084t0002g0210a0016c0106t0001g0099 | 3 | HG02922.hp2 HG03139.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.3766-1061G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | chr19 | 38472316 | ||||||
| chr19:38472388
|
A | T | 3 | a0004c0047t0002g0205a0004c0084t0002g0210a0016c0106t0001g0099 | 3 | HG02922.hp2 HG03139.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.3766-989A>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | chr19 | 38472388 | ||||||
| chr19:38472397
|
T | G | 73 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(70): Show | 73 | HG00733.hp2 HG01070.hp1 HG01099.hp2 others(70): Show |
intron_variant | MODIFIER | c.3766-980T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | chr19 | 38472397 | ||||||
| chr19:38472653
|
G | A | 5 | a0001c0110t0001g0157a0007c0037t0002g0214a0007c0038t0002g0215others(2): Show | 5 | HG03453.hp1 HG03471.hp1 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.3766-724G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | chr19 | 38472653 | ||||||
| chr19:38472675
|
T | C | 73 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(70): Show | 73 | HG00733.hp2 HG01070.hp1 HG01099.hp2 others(70): Show |
intron_variant | MODIFIER | c.3766-702T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | chr19 | 38472675 | ||||||
| chr19:38472706
|
C | T | 5 | a0001c0110t0001g0157a0007c0037t0002g0214a0007c0038t0002g0215others(2): Show | 5 | HG03453.hp1 HG03471.hp1 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.3766-671C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | chr19 | 38472706 | ||||||
| chr19:38472773
|
T | C | 2 | a0019c0080t0001g0142a0020c0081t0001g0143 | 2 | HG02647.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.3766-604T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | chr19 | 38472773 | ||||||
| chr19:38472835
|
T | TA | 8 | a0001c0001t0001g0014a0001c0001t0001g0094a0001c0002t0001g0081others(5): Show | 8 | HG01109.hp2 HG01175.hp2 HG01257.hp1 others(5): Show |
intron_variant | MODIFIER | c.3766-520dupA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | INFO_REALIGN_3_PRIME | chr19 | 38472835 | |||||
| chr19:38472835
|
TA | T | 43 | a0001c0001t0001g0010a0001c0001t0001g0018a0001c0004t0001g0096others(40): Show | 43 | HG00438.hp1 HG00639.hp2 HG00735.hp2 others(40): Show |
intron_variant | MODIFIER | c.3766-520delA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | INFO_REALIGN_3_PRIME | chr19 | 38472835 | |||||
| chr19:38472835
|
TAA | T | 44 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(41): Show | 44 | HG00733.hp2 HG01070.hp1 HG01099.hp2 others(41): Show |
intron_variant | MODIFIER | c.3766-521_3766-520d others(4): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | INFO_REALIGN_3_PRIME | chr19 | 38472835 | |||||
| chr19:38472835
|
TAAA | T | 5 | a0001c0005t0001g0179a0002c0012t0001g0171a0002c0025t0001g0162others(2): Show | 5 | HG01256.hp1 HG01943.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.3766-522_3766-520d others(5): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | INFO_REALIGN_3_PRIME | chr19 | 38472835 | |||||
| chr19:38472835
|
TAAAAA | T | 6 | a0001c0014t0001g0004a0001c0014t0001g0025a0006c0007t0002g0202others(3): Show | 6 | HG01891.hp1 HG02109.hp1 HG02257.hp2 others(3): Show |
intron_variant | MODIFIER | c.3766-524_3766-520d others(7): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | INFO_REALIGN_3_PRIME | chr19 | 38472835 | |||||
| chr19:38472835
|
TAAAAAAA others(3): Show |
T | 14 | a0004c0015t0001g0098a0004c0015t0001g0187a0004c0015t0001g0188others(11): Show | 14 | HG01109.hp1 HG01884.hp1 HG02615.hp2 others(11): Show |
intron_variant | MODIFIER | c.3766-529_3766-520d others(12): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | INFO_REALIGN_3_PRIME | chr19 | 38472835 | |||||
| chr19:38472855
|
A | G | 1 | a0001c0070t0001g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.3766-522A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | chr19 | 38472855 | ||||||
| chr19:38472884
|
C | T | 14 | a0004c0015t0001g0098a0004c0015t0001g0187a0004c0015t0001g0188others(11): Show | 14 | HG01109.hp1 HG01884.hp1 HG02615.hp2 others(11): Show |
intron_variant | MODIFIER | c.3766-493C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | chr19 | 38472884 | ||||||
| chr19:38472924
|
A | G | 2 | a0001c0022t0001g0051a0001c0022t0001g0052 | 2 | NA18939.hp2 NA19084.hp1 |
intron_variant | MODIFIER | c.3766-453A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | chr19 | 38472924 | ||||||
| chr19:38472977
|
T | C | 14 | a0004c0015t0001g0098a0004c0015t0001g0187a0004c0015t0001g0188others(11): Show | 14 | HG01109.hp1 HG01884.hp1 HG02615.hp2 others(11): Show |
intron_variant | MODIFIER | c.3766-400T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | chr19 | 38472977 | ||||||
| chr19:38473015
|
C | CA | 13 | a0001c0014t0001g0004a0001c0014t0001g0024a0001c0014t0001g0025others(10): Show | 13 | HG01891.hp1 HG01891.hp2 HG02109.hp1 others(10): Show |
intron_variant | MODIFIER | c.3766-346dupA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | INFO_REALIGN_3_PRIME | chr19 | 38473015 | |||||
| chr19:38473015
|
C | CAA | 13 | a0004c0015t0001g0098a0004c0015t0001g0187a0004c0015t0001g0188others(10): Show | 13 | HG01109.hp1 HG01884.hp1 HG02615.hp2 others(10): Show |
intron_variant | MODIFIER | c.3766-347_3766-346d others(4): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | INFO_REALIGN_3_PRIME | chr19 | 38473015 | |||||
| chr19:38473031
|
A | AG | 3 | a0007c0037t0002g0214a0007c0038t0002g0215a0007c0039t0001g0031 | 3 | HG03453.hp1 HG03471.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.3766-345dupG | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | INFO_REALIGN_3_PRIME | chr19 | 38473031 | |||||
| chr19:38473031
|
A | G | 2 | a0001c0110t0001g0157a0023c0109t0001g0020 | 2 | NA18522.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.3766-346A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | chr19 | 38473031 | ||||||
| chr19:38473214
|
C | G | 7 | a0001c0014t0001g0004a0001c0014t0001g0024a0001c0014t0001g0025others(4): Show | 7 | HG01891.hp1 HG01891.hp2 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.3766-163C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | chr19 | 38473214 | ||||||
| chr19:38473225
|
C | G | 1 | a0007c0039t0001g0031 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.3766-152C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | chr19 | 38473225 | ||||||
| chr19:38473293
|
G | C | 3 | a0001c0001t0001g0145a0001c0001t0001g0147a0003c0100t0001g0150 | 3 | HG01071.hp2 HG01943.hp1 HG01975.hp1 |
intron_variant | MODIFIER | c.3766-84G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | chr19 | 38473293 | ||||||
| chr19:38473343
|
G | A | 3 | a0004c0047t0002g0205a0004c0084t0002g0210a0016c0106t0001g0099 | 3 | HG02922.hp2 HG03139.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.3766-34G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 27/105 | chr19 | 38473343 | ||||||
| chr19:38473850
|
A | C | 4 | a0004c0072t0001g0125a0004c0115t0004g0216a0014c0073t0001g0126others(1): Show | 4 | HG01109.hp1 HG02630.hp1 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.4160+79A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 28/105 | chr19 | 38473850 | ||||||
| chr19:38473885
|
T | G | 14 | a0004c0015t0001g0098a0004c0015t0001g0187a0004c0015t0001g0188others(11): Show | 14 | HG01109.hp1 HG01884.hp1 HG02615.hp2 others(11): Show |
intron_variant | MODIFIER | c.4160+114T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 28/105 | chr19 | 38473885 | ||||||
| chr19:38473901
|
A | G | 23 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(20): Show | 23 | HG00733.hp2 HG01099.hp2 HG01123.hp1 others(20): Show |
intron_variant | MODIFIER | c.4160+130A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 28/105 | chr19 | 38473901 | ||||||
| chr19:38474037
|
A | G | 3 | a0004c0047t0002g0205a0004c0084t0002g0210a0016c0106t0001g0099 | 3 | HG02922.hp2 HG03139.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.4160+266A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 28/105 | chr19 | 38474037 | ||||||
| chr19:38474067
|
G | A | 1 | a0001c0095t0001g0190 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.4160+296G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 28/105 | chr19 | 38474067 | ||||||
| chr19:38474274
|
C | CT | 7 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(4): Show | 7 | HG01257.hp2 HG01258.hp2 HG02735.hp2 others(4): Show |
intron_variant | MODIFIER | c.4160+514dupT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 28/105 | INFO_REALIGN_3_PRIME | chr19 | 38474274 | |||||
| chr19:38474323
|
C | T | 7 | a0001c0110t0001g0157a0007c0037t0002g0214a0007c0038t0002g0215others(4): Show | 7 | HG02647.hp2 HG03453.hp1 HG03471.hp1 others(4): Show |
intron_variant | MODIFIER | c.4160+552C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 28/105 | chr19 | 38474323 | ||||||
| chr19:38474405
|
G | A | 2 | a0001c0054t0001g0136a0001c0055t0001g0137 | 2 | HG02630.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.4160+634G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 28/105 | chr19 | 38474405 | ||||||
| chr19:38474423
|
C | T | 2 | a0001c0054t0001g0136a0001c0055t0001g0137 | 2 | HG02630.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.4160+652C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 28/105 | chr19 | 38474423 | ||||||
| chr19:38474424
|
A | G | 70 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(67): Show | 70 | HG00733.hp2 HG01099.hp2 HG01109.hp1 others(67): Show |
intron_variant | MODIFIER | c.4160+653A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 28/105 | chr19 | 38474424 | ||||||
| chr19:38474425
|
G | C | 7 | a0001c0014t0001g0004a0001c0014t0001g0024a0001c0014t0001g0025others(4): Show | 7 | HG01891.hp1 HG01891.hp2 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.4160+654G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 28/105 | chr19 | 38474425 | ||||||
| chr19:38474451
|
C | T | 1 | a0001c0070t0001g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.4160+680C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 28/105 | chr19 | 38474451 | ||||||
| chr19:38474478
|
G | T | 3 | a0004c0047t0002g0205a0004c0084t0002g0210a0016c0106t0001g0099 | 3 | HG02922.hp2 HG03139.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.4160+707G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 28/105 | chr19 | 38474478 | ||||||
| chr19:38474548
|
C | T | 1 | a0001c0044t0001g0048 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.4161-770C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 28/105 | chr19 | 38474548 | ||||||
| chr19:38474550
|
A | T | 3 | a0004c0072t0001g0125a0004c0115t0004g0216a0014c0073t0001g0126 | 3 | HG01109.hp1 HG02630.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.4161-768A>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 28/105 | chr19 | 38474550 | ||||||
| chr19:38474564
|
C | CT | 54 | a0001c0001t0001g0029a0001c0002t0001g0091a0001c0003t0001g0100others(51): Show | 54 | HG00733.hp2 HG00735.hp1 HG01099.hp2 others(51): Show |
intron_variant | MODIFIER | c.4161-726dupT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 28/105 | INFO_REALIGN_3_PRIME | chr19 | 38474564 | |||||
| chr19:38474564
|
C | CTT | 5 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0049t0003g0033others(2): Show | 5 | HG01123.hp1 HG01943.hp2 HG02080.hp2 others(2): Show |
intron_variant | MODIFIER | c.4161-727_4161-726d others(4): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 28/105 | INFO_REALIGN_3_PRIME | chr19 | 38474564 | |||||
| chr19:38474564
|
CT | C | 9 | a0001c0001t0001g0010a0001c0001t0001g0148a0001c0001t0001g0151others(6): Show | 9 | HG01169.hp2 HG01258.hp2 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.4161-726delT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 28/105 | INFO_REALIGN_3_PRIME | chr19 | 38474564 | |||||
| chr19:38474564
|
CTTTTTTT others(3): Show |
C | 1 | a0001c0101t0001g0041 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.4161-735_4161-726d others(12): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 28/105 | INFO_REALIGN_3_PRIME | chr19 | 38474564 | |||||
| chr19:38474564
|
CTTTTTTT others(4): Show |
C | 2 | a0001c0062t0001g0050a0001c0063t0001g0049 | 2 | HG00639.hp2 HG00735.hp2 |
intron_variant | MODIFIER | c.4161-736_4161-726d others(13): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 28/105 | INFO_REALIGN_3_PRIME | chr19 | 38474564 | |||||
| chr19:38474564
|
CTTTTTTT others(7): Show |
C | 1 | a0001c0094t0001g0066 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.4161-739_4161-726d others(16): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 28/105 | INFO_REALIGN_3_PRIME | chr19 | 38474564 | |||||
| chr19:38474620
|
T | G | 70 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(67): Show | 70 | HG00733.hp2 HG01099.hp2 HG01109.hp1 others(67): Show |
intron_variant | MODIFIER | c.4161-698T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 28/105 | chr19 | 38474620 | ||||||
| chr19:38474667
|
T | C | 70 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(67): Show | 70 | HG00733.hp2 HG01099.hp2 HG01109.hp1 others(67): Show |
intron_variant | MODIFIER | c.4161-651T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 28/105 | chr19 | 38474667 | ||||||
| chr19:38474781
|
G | T | 5 | a0001c0020t0001g0185a0001c0020t0001g0197a0001c0056t0001g0135others(2): Show | 5 | HG02109.hp2 HG02257.hp1 HG02559.hp2 others(2): Show |
intron_variant | MODIFIER | c.4161-537G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 28/105 | chr19 | 38474781 | ||||||
| chr19:38474855
|
A | G | 1 | a0001c0055t0001g0137 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.4161-463A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 28/105 | chr19 | 38474855 | ||||||
| chr19:38475072
|
A | C | 70 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(67): Show | 70 | HG00733.hp2 HG01099.hp2 HG01109.hp1 others(67): Show |
intron_variant | MODIFIER | c.4161-246A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 28/105 | chr19 | 38475072 | ||||||
| chr19:38475094
|
C | T | 34 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(31): Show | 34 | HG00733.hp2 HG01099.hp2 HG01123.hp1 others(31): Show |
intron_variant | MODIFIER | c.4161-224C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 28/105 | chr19 | 38475094 | ||||||
| chr19:38475186
|
C | G | 1 | a0027c0092t0001g0073 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.4161-132C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 28/105 | chr19 | 38475186 | ||||||
| chr19:38475244
|
G | T | 14 | a0004c0015t0001g0098a0004c0015t0001g0187a0004c0015t0001g0188others(11): Show | 14 | HG01109.hp1 HG01884.hp1 HG02615.hp2 others(11): Show |
intron_variant | MODIFIER | c.4161-74G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 28/105 | chr19 | 38475244 | ||||||
| chr19:38475250
|
A | G | 3 | a0008c0010t0001g0006a0008c0010t0001g0007a0008c0010t0001g0008 | 3 | HG02965.hp1 HG03139.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.4161-68A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 28/105 | chr19 | 38475250 | ||||||
| chr19:38475312
|
T | C | 68 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(65): Show | 68 | HG00733.hp2 HG01099.hp2 HG01109.hp1 others(65): Show |
splice_region_variant&intron_variant | LOW | c.4161-6T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 28/105 | chr19 | 38475312 | ||||||
| chr19:38475571
|
T | C | 14 | a0004c0015t0001g0098a0004c0015t0001g0187a0004c0015t0001g0188others(11): Show | 14 | HG01109.hp1 HG01884.hp1 HG02615.hp2 others(11): Show |
intron_variant | MODIFIER | c.4293+121T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 29/105 | chr19 | 38475571 | ||||||
| chr19:38475616
|
T | C | 14 | a0004c0015t0001g0098a0004c0015t0001g0187a0004c0015t0001g0188others(11): Show | 14 | HG01109.hp1 HG01884.hp1 HG02615.hp2 others(11): Show |
intron_variant | MODIFIER | c.4293+166T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 29/105 | chr19 | 38475616 | ||||||
| chr19:38475649
|
A | G | 14 | a0004c0015t0001g0098a0004c0015t0001g0187a0004c0015t0001g0188others(11): Show | 14 | HG01109.hp1 HG01884.hp1 HG02615.hp2 others(11): Show |
intron_variant | MODIFIER | c.4293+199A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 29/105 | chr19 | 38475649 | ||||||
| chr19:38475686
|
A | G | 1 | a0001c0108t0001g0138 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4293+236A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 29/105 | chr19 | 38475686 | ||||||
| chr19:38475690
|
A | G | 10 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(7): Show | 10 | HG02109.hp2 HG02257.hp1 HG02559.hp2 others(7): Show |
intron_variant | MODIFIER | c.4293+240A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 29/105 | chr19 | 38475690 | ||||||
| chr19:38475765
|
A | C | 1 | a0001c0011t0001g0003 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.4293+315A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 29/105 | chr19 | 38475765 | ||||||
| chr19:38475807
|
T | G | 3 | a0001c0003t0001g0116a0001c0045t0001g0009a0026c0046t0001g0127 | 3 | HG00735.hp1 HG02698.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.4293+357T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 29/105 | chr19 | 38475807 | ||||||
| chr19:38476018
|
C | CT | 67 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(64): Show | 67 | HG00733.hp2 HG01099.hp2 HG01109.hp1 others(64): Show |
intron_variant | MODIFIER | c.4293+578dupT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 29/105 | INFO_REALIGN_3_PRIME | chr19 | 38476018 | |||||
| chr19:38476091
|
T | C | 17 | a0004c0015t0001g0098a0004c0015t0001g0187a0004c0015t0001g0188others(14): Show | 17 | HG01109.hp1 HG01884.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.4293+641T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 29/105 | chr19 | 38476091 | ||||||
| chr19:38476923
|
C | T | 1 | a0001c0116t0001g0121 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.4294-787C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 29/105 | chr19 | 38476923 | ||||||
| chr19:38477029
|
T | TC | 3 | a0008c0010t0001g0006a0008c0010t0001g0007a0008c0010t0001g0008 | 3 | HG02965.hp1 HG03139.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.4294-680dupC | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 29/105 | INFO_REALIGN_3_PRIME | chr19 | 38477029 | |||||
| chr19:38477054
|
A | C | 1 | a0002c0008t0001g0163 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.4294-656A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 29/105 | chr19 | 38477054 | ||||||
| chr19:38477067
|
AAAG | A | 4 | a0001c0005t0001g0176a0004c0072t0001g0125a0014c0073t0001g0126others(1): Show | 4 | HG00733.hp2 HG01109.hp1 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.4294-630_4294-628d others(5): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 29/105 | INFO_REALIGN_3_PRIME | chr19 | 38477067 | |||||
| chr19:38477078
|
A | G | 1 | a0001c0055t0001g0137 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.4294-632A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 29/105 | chr19 | 38477078 | ||||||
| chr19:38477245
|
C | T | 2 | a0001c0001t0001g0058a0001c0027t0001g0059 | 2 | HG01981.hp1 HG02293.hp2 |
intron_variant | MODIFIER | c.4294-465C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 29/105 | chr19 | 38477245 | ||||||
| chr19:38477268
|
G | A | 1 | a0001c0031t0001g0159 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.4294-442G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 29/105 | chr19 | 38477268 | ||||||
| chr19:38477342
|
C | T | 1 | a0001c0091t0001g0144 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.4294-368C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 29/105 | chr19 | 38477342 | ||||||
| chr19:38477390
|
T | G | 16 | a0001c0054t0001g0136a0001c0055t0001g0137a0004c0015t0001g0098others(13): Show | 16 | HG01109.hp1 HG01884.hp1 HG02615.hp2 others(13): Show |
intron_variant | MODIFIER | c.4294-320T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 29/105 | chr19 | 38477390 | ||||||
| chr19:38477464
|
C | A | 10 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(7): Show | 10 | HG02109.hp2 HG02257.hp1 HG02559.hp2 others(7): Show |
intron_variant | MODIFIER | c.4294-246C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 29/105 | chr19 | 38477464 | ||||||
| chr19:38477557
|
C | G | 4 | a0001c0029t0001g0074a0001c0029t0001g0083a0001c0035t0001g0113others(1): Show | 4 | HG02698.hp1 NA18747.hp2 NA18955.hp1 others(1): Show |
intron_variant | MODIFIER | c.4294-153C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 29/105 | chr19 | 38477557 | ||||||
| chr19:38477585
|
G | T | 7 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(4): Show | 7 | HG01255.hp2 HG01257.hp2 HG01258.hp2 others(4): Show |
intron_variant | MODIFIER | c.4294-125G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 29/105 | chr19 | 38477585 | ||||||
| chr19:38477899
|
G | A | 10 | a0004c0015t0001g0098a0004c0015t0001g0187a0004c0015t0001g0188others(7): Show | 10 | HG01109.hp1 HG01884.hp1 HG02615.hp2 others(7): Show |
intron_variant | MODIFIER | c.4454+29G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 30/105 | chr19 | 38477899 | ||||||
| chr19:38477919
|
G | C | 2 | a0001c0054t0001g0136a0001c0055t0001g0137 | 2 | HG02630.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.4454+49G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 30/105 | chr19 | 38477919 | ||||||
| chr19:38477976
|
T | C | 10 | a0004c0015t0001g0098a0004c0015t0001g0187a0004c0015t0001g0188others(7): Show | 10 | HG01109.hp1 HG01884.hp1 HG02615.hp2 others(7): Show |
intron_variant | MODIFIER | c.4454+106T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 30/105 | chr19 | 38477976 | ||||||
| chr19:38478102
|
T | TC | 16 | a0001c0049t0003g0033a0001c0052t0003g0034a0001c0066t0001g0092others(13): Show | 16 | HG01109.hp1 HG01884.hp1 HG02080.hp2 others(13): Show |
intron_variant | MODIFIER | c.4454+234dupC | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 30/105 | INFO_REALIGN_3_PRIME | chr19 | 38478102 | |||||
| chr19:38478135
|
T | C | 25 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(22): Show | 25 | HG00733.hp2 HG01099.hp2 HG01123.hp1 others(22): Show |
intron_variant | MODIFIER | c.4454+265T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 30/105 | chr19 | 38478135 | ||||||
| chr19:38478281
|
C | T | 1 | a0001c0071t0001g0186 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.4455-154C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 30/105 | chr19 | 38478281 | ||||||
| chr19:38478300
|
T | G | 72 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(69): Show | 72 | HG00733.hp2 HG01070.hp1 HG01099.hp2 others(69): Show |
intron_variant | MODIFIER | c.4455-135T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 30/105 | chr19 | 38478300 | ||||||
| chr19:38478856
|
C | T | 65 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(62): Show | 65 | HG00733.hp2 HG01070.hp1 HG01099.hp2 others(62): Show |
intron_variant | MODIFIER | c.4620+256C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 31/105 | chr19 | 38478856 | ||||||
| chr19:38478923
|
A | G | 2 | a0019c0080t0001g0142a0020c0081t0001g0143 | 2 | HG02647.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.4620+323A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 31/105 | chr19 | 38478923 | ||||||
| chr19:38479292
|
G | A | 3 | a0008c0010t0001g0006a0008c0010t0001g0007a0008c0010t0001g0008 | 3 | HG02965.hp1 HG03139.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.4620+692G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 31/105 | chr19 | 38479292 | ||||||
| chr19:38479520
|
G | A | 1 | a0004c0084t0002g0210 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.4620+920G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 31/105 | chr19 | 38479520 | ||||||
| chr19:38479635
|
G | A | 46 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(43): Show | 46 | HG01070.hp1 HG01109.hp1 HG01884.hp1 others(43): Show |
intron_variant | MODIFIER | c.4620+1035G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 31/105 | chr19 | 38479635 | ||||||
| chr19:38479657
|
C | G | 1 | a0017c0041t0001g0117 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.4620+1057C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 31/105 | chr19 | 38479657 | ||||||
| chr19:38479873
|
T | G | 71 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(68): Show | 71 | HG00733.hp2 HG01070.hp1 HG01099.hp2 others(68): Show |
intron_variant | MODIFIER | c.4620+1273T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 31/105 | chr19 | 38479873 | ||||||
| chr19:38480217
|
A | G | 1 | a0001c0031t0001g0159 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.4620+1617A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 31/105 | chr19 | 38480217 | ||||||
| chr19:38480329
|
A | T | 3 | a0007c0037t0002g0214a0007c0038t0002g0215a0007c0039t0001g0031 | 3 | HG03453.hp1 HG03471.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.4620+1729A>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 31/105 | chr19 | 38480329 | ||||||
| chr19:38480634
|
T | C | 17 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0054t0001g0136others(14): Show | 17 | HG01070.hp1 HG01109.hp1 HG01884.hp1 others(14): Show |
intron_variant | MODIFIER | c.4620+2034T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 31/105 | chr19 | 38480634 | ||||||
| chr19:38480687
|
T | G | 5 | a0001c0014t0001g0004a0001c0014t0001g0024a0001c0014t0001g0025others(2): Show | 5 | HG01891.hp2 HG02109.hp1 HG03139.hp2 others(2): Show |
intron_variant | MODIFIER | c.4620+2087T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 31/105 | chr19 | 38480687 | ||||||
| chr19:38480876
|
C | T | 2 | a0001c0004t0001g0096a0001c0004t0001g0119 | 2 | HG01175.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.4621-2151C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 31/105 | chr19 | 38480876 | ||||||
| chr19:38480916
|
C | T | 16 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0054t0001g0136others(13): Show | 16 | HG01070.hp1 HG01109.hp1 HG01884.hp1 others(13): Show |
intron_variant | MODIFIER | c.4621-2111C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 31/105 | chr19 | 38480916 | ||||||
| chr19:38481171
|
G | A | 10 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(7): Show | 10 | HG02109.hp2 HG02257.hp1 HG02559.hp2 others(7): Show |
intron_variant | MODIFIER | c.4621-1856G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 31/105 | chr19 | 38481171 | ||||||
| chr19:38481214
|
C | A | 35 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(32): Show | 35 | HG00733.hp2 HG01099.hp2 HG01123.hp1 others(32): Show |
intron_variant | MODIFIER | c.4621-1813C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 31/105 | chr19 | 38481214 | ||||||
| chr19:38481578
|
G | A | 63 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(60): Show | 63 | HG00733.hp2 HG01070.hp1 HG01099.hp2 others(60): Show |
intron_variant | MODIFIER | c.4621-1449G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 31/105 | chr19 | 38481578 | ||||||
| chr19:38481590
|
C | T | 2 | a0019c0080t0001g0142a0020c0081t0001g0143 | 2 | HG02647.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.4621-1437C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 31/105 | chr19 | 38481590 | ||||||
| chr19:38481596
|
G | A | 54 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(51): Show | 54 | HG00733.hp2 HG01070.hp1 HG01099.hp2 others(51): Show |
intron_variant | MODIFIER | c.4621-1431G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 31/105 | chr19 | 38481596 | ||||||
| chr19:38481685
|
C | T | 24 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(21): Show | 24 | HG00733.hp2 HG01099.hp2 HG01123.hp1 others(21): Show |
intron_variant | MODIFIER | c.4621-1342C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 31/105 | chr19 | 38481685 | ||||||
| chr19:38481807
|
G | T | 11 | a0001c0069t0001g0139a0004c0015t0001g0098a0004c0015t0001g0187others(8): Show | 11 | HG01109.hp1 HG01884.hp1 HG02615.hp2 others(8): Show |
intron_variant | MODIFIER | c.4621-1220G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 31/105 | chr19 | 38481807 | ||||||
| chr19:38481809
|
C | T | 10 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(7): Show | 10 | HG02109.hp2 HG02257.hp1 HG02559.hp2 others(7): Show |
intron_variant | MODIFIER | c.4621-1218C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 31/105 | chr19 | 38481809 | ||||||
| chr19:38481846
|
G | A | 1 | a0001c0022t0001g0051 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.4621-1181G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 31/105 | chr19 | 38481846 | ||||||
| chr19:38481857
|
T | G | 71 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(68): Show | 71 | HG00733.hp2 HG01070.hp1 HG01099.hp2 others(68): Show |
intron_variant | MODIFIER | c.4621-1170T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 31/105 | chr19 | 38481857 | ||||||
| chr19:38481946
|
G | A | 4 | a0001c0049t0003g0033a0001c0052t0003g0034a0001c0066t0001g0092others(1): Show | 4 | HG02080.hp2 NA18951.hp2 NA18980.hp2 others(1): Show |
intron_variant | MODIFIER | c.4621-1081G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 31/105 | chr19 | 38481946 | ||||||
| chr19:38482434
|
A | G | 1 | a0001c0022t0001g0051 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.4621-593A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 31/105 | chr19 | 38482434 | ||||||
| chr19:38482506
|
G | A | 1 | a0024c0061t0001g0044 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.4621-521G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 31/105 | chr19 | 38482506 | ||||||
| chr19:38482536
|
G | A | 1 | a0001c0030t0001g0055 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.4621-491G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 31/105 | chr19 | 38482536 | ||||||
| chr19:38482553
|
C | T | 1 | a0001c0098t0001g0071 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.4621-474C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 31/105 | chr19 | 38482553 | ||||||
| chr19:38482603
|
G | A | 46 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(43): Show | 46 | HG00733.hp2 HG01099.hp2 HG01123.hp1 others(43): Show |
intron_variant | MODIFIER | c.4621-424G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 31/105 | chr19 | 38482603 | ||||||
| chr19:38482739
|
C | T | 10 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(7): Show | 10 | HG02109.hp2 HG02257.hp1 HG02559.hp2 others(7): Show |
intron_variant | MODIFIER | c.4621-288C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 31/105 | chr19 | 38482739 | ||||||
| chr19:38482949
|
C | T | 2 | a0001c0054t0001g0136a0001c0055t0001g0137 | 2 | HG02630.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.4621-78C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 31/105 | chr19 | 38482949 | ||||||
| chr19:38482994
|
G | A | 1 | a0001c0022t0001g0051 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.4621-33G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 31/105 | chr19 | 38482994 | ||||||
| chr19:38483200
|
A | AG | 5 | a0001c0014t0001g0004a0001c0014t0001g0024a0001c0014t0001g0025others(2): Show | 5 | HG01891.hp2 HG02109.hp1 HG03139.hp2 others(2): Show |
intron_variant | MODIFIER | c.4708-85dupG | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 32/105 | INFO_REALIGN_3_PRIME | chr19 | 38483200 | |||||
| chr19:38483541
|
G | T | 4 | a0001c0049t0003g0033a0001c0052t0003g0034a0001c0066t0001g0092others(1): Show | 4 | HG02080.hp2 NA18951.hp2 NA18980.hp2 others(1): Show |
intron_variant | MODIFIER | c.4934+25G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 33/105 | chr19 | 38483541 | ||||||
| chr19:38483710
|
C | T | 1 | a0001c0070t0001g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.4934+194C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 33/105 | chr19 | 38483710 | ||||||
| chr19:38483947
|
C | T | 1 | a0001c0116t0001g0121 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.4934+431C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 33/105 | chr19 | 38483947 | ||||||
| chr19:38483973
|
G | A | 15 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(12): Show | 15 | HG01891.hp2 HG02109.hp1 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.4934+457G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 33/105 | chr19 | 38483973 | ||||||
| chr19:38484086
|
G | A | 2 | a0001c0110t0001g0157a0023c0109t0001g0020 | 2 | NA18522.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.4934+570G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 33/105 | chr19 | 38484086 | ||||||
| chr19:38484103
|
G | T | 10 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(7): Show | 10 | HG02109.hp2 HG02257.hp1 HG02559.hp2 others(7): Show |
intron_variant | MODIFIER | c.4934+587G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 33/105 | chr19 | 38484103 | ||||||
| chr19:38484223
|
C | T | 30 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(27): Show | 30 | HG00733.hp2 HG01099.hp2 HG01123.hp1 others(27): Show |
intron_variant | MODIFIER | c.4934+707C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 33/105 | chr19 | 38484223 | ||||||
| chr19:38484248
|
C | T | 1 | a0001c0071t0001g0186 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.4934+732C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 33/105 | chr19 | 38484248 | ||||||
| chr19:38484303
|
T | C | 67 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(64): Show | 67 | HG00733.hp2 HG01070.hp1 HG01099.hp2 others(64): Show |
intron_variant | MODIFIER | c.4934+787T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 33/105 | chr19 | 38484303 | ||||||
| chr19:38484350
|
T | C | 16 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(13): Show | 16 | HG01070.hp1 HG01884.hp1 HG02109.hp2 others(13): Show |
intron_variant | MODIFIER | c.4934+834T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 33/105 | chr19 | 38484350 | ||||||
| chr19:38484353
|
CTCTT | C | 5 | a0001c0014t0001g0004a0001c0014t0001g0024a0001c0014t0001g0025others(2): Show | 5 | HG01891.hp2 HG02109.hp1 HG03139.hp2 others(2): Show |
intron_variant | MODIFIER | c.4934+848_4934+851d others(6): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 33/105 | INFO_REALIGN_3_PRIME | chr19 | 38484353 | |||||
| chr19:38484364
|
T | C | 49 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(46): Show | 49 | HG00733.hp2 HG01070.hp1 HG01099.hp2 others(46): Show |
intron_variant | MODIFIER | c.4934+848T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 33/105 | chr19 | 38484364 | ||||||
| chr19:38484378
|
T | C | 25 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(22): Show | 25 | HG00733.hp2 HG01099.hp2 HG01123.hp1 others(22): Show |
intron_variant | MODIFIER | c.4934+862T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 33/105 | chr19 | 38484378 | ||||||
| chr19:38484387
|
C | G | 5 | a0004c0084t0002g0210a0006c0007t0002g0202a0006c0007t0002g0203others(2): Show | 5 | HG01891.hp1 HG02257.hp2 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.4934+871C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 33/105 | chr19 | 38484387 | ||||||
| chr19:38484402
|
CCCTTCCT others(1): Show |
C | 3 | a0007c0037t0002g0214a0007c0038t0002g0215a0007c0039t0001g0031 | 3 | HG03453.hp1 HG03471.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.4934+897_4934+904d others(10): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 33/105 | INFO_REALIGN_3_PRIME | chr19 | 38484402 | |||||
| chr19:38484438
|
C | CCCTTCCT others(21): Show |
1 | a0018c0083t0002g0211 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.4934+933_4934+934i others(30): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 33/105 | INFO_REALIGN_3_PRIME | chr19 | 38484438 | |||||
| chr19:38484438
|
C | CCCTTCCT others(25): Show |
27 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(24): Show | 27 | HG01070.hp1 HG01109.hp1 HG01884.hp1 others(24): Show |
intron_variant | MODIFIER | c.4934+931_4934+962d others(34): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 33/105 | INFO_REALIGN_3_PRIME | chr19 | 38484438 | |||||
| chr19:38484451
|
C | A | 3 | a0007c0037t0002g0214a0007c0038t0002g0215a0007c0039t0001g0031 | 3 | HG03453.hp1 HG03471.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.4934+935C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 33/105 | chr19 | 38484451 | ||||||
| chr19:38484656
|
G | A | 164 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0018others(161): Show | 164 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(161): Show |
intron_variant | MODIFIER | c.4935-934G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 33/105 | chr19 | 38484656 | ||||||
| chr19:38484686
|
T | C | 1 | a0003c0051t0003g0036 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.4935-904T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 33/105 | chr19 | 38484686 | ||||||
| chr19:38484694
|
C | T | 1 | a0001c0058t0001g0001 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.4935-896C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 33/105 | chr19 | 38484694 | ||||||
| chr19:38484747
|
GTTGC | G | 10 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(7): Show | 10 | HG02109.hp2 HG02257.hp1 HG02559.hp2 others(7): Show |
intron_variant | MODIFIER | c.4935-839_4935-836d others(6): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 33/105 | INFO_REALIGN_3_PRIME | chr19 | 38484747 | |||||
| chr19:38484809
|
T | C | 28 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(25): Show | 28 | HG01070.hp1 HG01109.hp1 HG01884.hp1 others(25): Show |
intron_variant | MODIFIER | c.4935-781T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 33/105 | chr19 | 38484809 | ||||||
| chr19:38484921
|
G | T | 1 | a0001c0027t0001g0030 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.4935-669G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 33/105 | chr19 | 38484921 | ||||||
| chr19:38484954
|
G | C | 2 | a0001c0054t0001g0136a0001c0055t0001g0137 | 2 | HG02630.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.4935-636G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 33/105 | chr19 | 38484954 | ||||||
| chr19:38485143
|
G | C | 4 | a0001c0049t0003g0033a0001c0052t0003g0034a0001c0066t0001g0092others(1): Show | 4 | HG02080.hp2 NA18951.hp2 NA18980.hp2 others(1): Show |
intron_variant | MODIFIER | c.4935-447G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 33/105 | chr19 | 38485143 | ||||||
| chr19:38485172
|
T | G | 3 | a0008c0010t0001g0006a0008c0010t0001g0007a0008c0010t0001g0008 | 3 | HG02965.hp1 HG03139.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.4935-418T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 33/105 | chr19 | 38485172 | ||||||
| chr19:38485226
|
C | T | 27 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(24): Show | 27 | HG01070.hp1 HG01109.hp1 HG01884.hp1 others(24): Show |
intron_variant | MODIFIER | c.4935-364C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 33/105 | chr19 | 38485226 | ||||||
| chr19:38485537
|
T | G | 67 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(64): Show | 67 | HG00733.hp2 HG01070.hp1 HG01099.hp2 others(64): Show |
intron_variant | MODIFIER | c.4935-53T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 33/105 | chr19 | 38485537 | ||||||
| chr19:38486250
|
C | T | 1 | a0002c0025t0001g0162 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.5547+48C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486250 | ||||||
| chr19:38486287
|
A | T | 5 | a0004c0084t0002g0210a0006c0007t0002g0202a0006c0007t0002g0203others(2): Show | 5 | HG01891.hp1 HG02257.hp2 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.5547+85A>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486287 | ||||||
| chr19:38486347
|
A | G | 1 | a0001c0054t0001g0136 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.5547+145A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486347 | ||||||
| chr19:38486382
|
C | T | 3 | a0001c0070t0001g0002a0001c0110t0001g0157a0023c0109t0001g0020 | 3 | HG02622.hp1 NA18522.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.5547+180C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486382 | ||||||
| chr19:38486465
|
C | T | 3 | a0001c0001t0001g0058a0001c0027t0001g0030a0001c0027t0001g0059 | 3 | HG01975.hp2 HG01981.hp1 HG02293.hp2 |
intron_variant | MODIFIER | c.5547+263C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486465 | ||||||
| chr19:38486595
|
C | A | 16 | a0001c0019t0002g0218a0001c0052t0003g0034a0001c0066t0001g0092others(13): Show | 16 | HG01070.hp1 HG01109.hp1 HG01884.hp1 others(13): Show |
intron_variant | MODIFIER | c.5547+393C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486595 | ||||||
| chr19:38486636
|
C | T | 1 | a0011c0121t0001g0086 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.5547+434C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486636 | ||||||
| chr19:38486742
|
C | A | 1 | a0001c0018t0001g0160 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.5547+540C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486742 | ||||||
| chr19:38486745
|
T | G | 1 | a0001c0018t0001g0160 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.5547+543T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486745 | ||||||
| chr19:38486746
|
C | A | 1 | a0001c0018t0001g0160 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.5547+544C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486746 | ||||||
| chr19:38486748
|
T | A | 1 | a0001c0018t0001g0160 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.5547+546T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486748 | ||||||
| chr19:38486749
|
C | A | 1 | a0001c0018t0001g0160 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.5547+547C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486749 | ||||||
| chr19:38486750
|
C | G | 1 | a0001c0018t0001g0160 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.5547+548C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486750 | ||||||
| chr19:38486751
|
T | G | 1 | a0001c0018t0001g0160 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.5547+549T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486751 | ||||||
| chr19:38486752
|
A | T | 1 | a0001c0018t0001g0160 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.5547+550A>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486752 | ||||||
| chr19:38486755
|
C | T | 1 | a0001c0018t0001g0160 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.5547+553C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486755 | ||||||
| chr19:38486759
|
T | A | 1 | a0001c0018t0001g0160 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.5547+557T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486759 | ||||||
| chr19:38486762
|
C | A | 1 | a0001c0018t0001g0160 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.5547+560C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486762 | ||||||
| chr19:38486763
|
C | T | 1 | a0004c0115t0004g0216 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.5547+561C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486763 | ||||||
| chr19:38486767
|
C | T | 1 | a0001c0018t0001g0160 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.5547+565C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486767 | ||||||
| chr19:38486770
|
C | T | 1 | a0001c0018t0001g0160 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.5547+568C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486770 | ||||||
| chr19:38486771
|
C | T | 1 | a0001c0018t0001g0160 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.5547+569C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486771 | ||||||
| chr19:38486772
|
A | T | 1 | a0001c0018t0001g0160 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.5547+570A>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486772 | ||||||
| chr19:38486777
|
T | G | 1 | a0001c0018t0001g0160 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.5547+575T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486777 | ||||||
| chr19:38486778
|
C | A | 1 | a0001c0018t0001g0160 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.5547+576C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486778 | ||||||
| chr19:38486780
|
T | A | 1 | a0001c0018t0001g0160 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.5547+578T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486780 | ||||||
| chr19:38486781
|
C | T | 1 | a0001c0018t0001g0160 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.5547+579C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486781 | ||||||
| chr19:38486782
|
C | G | 1 | a0001c0018t0001g0160 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.5547+580C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486782 | ||||||
| chr19:38486785
|
C | A | 1 | a0001c0018t0001g0160 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.5547+583C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486785 | ||||||
| chr19:38486786
|
C | G | 1 | a0001c0018t0001g0160 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.5547+584C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486786 | ||||||
| chr19:38486789
|
C | G | 1 | a0001c0018t0001g0160 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.5547+587C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486789 | ||||||
| chr19:38486790
|
A | T | 1 | a0001c0018t0001g0160 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.5547+588A>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486790 | ||||||
| chr19:38486794
|
C | A | 1 | a0001c0018t0001g0160 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.5547+592C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486794 | ||||||
| chr19:38486795
|
A | C | 1 | a0001c0018t0001g0160 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.5547+593A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486795 | ||||||
| chr19:38486797
|
C | G | 1 | a0001c0018t0001g0160 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.5547+595C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486797 | ||||||
| chr19:38486798
|
A | T | 1 | a0001c0018t0001g0160 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.5547+596A>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486798 | ||||||
| chr19:38486802
|
C | T | 1 | a0001c0018t0001g0160 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.5547+600C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486802 | ||||||
| chr19:38486804
|
C | T | 1 | a0001c0018t0001g0160 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.5547+602C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486804 | ||||||
| chr19:38486810
|
G | A | 1 | a0001c0018t0001g0160 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.5547+608G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486810 | ||||||
| chr19:38486811
|
C | T | 1 | a0001c0018t0001g0160 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.5547+609C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486811 | ||||||
| chr19:38486812
|
C | A | 1 | a0001c0018t0001g0160 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.5547+610C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486812 | ||||||
| chr19:38486816
|
C | G | 1 | a0001c0018t0001g0160 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.5547+614C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486816 | ||||||
| chr19:38486822
|
A | C | 1 | a0001c0018t0001g0160 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.5547+620A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486822 | ||||||
| chr19:38486823
|
C | T | 1 | a0001c0018t0001g0160 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.5547+621C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486823 | ||||||
| chr19:38486940
|
T | C | 1 | a0001c0001t0001g0148 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.5547+738T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38486940 | ||||||
| chr19:38487003
|
A | G | 2 | a0019c0080t0001g0142a0020c0081t0001g0143 | 2 | HG02647.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.5547+801A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38487003 | ||||||
| chr19:38487044
|
C | T | 1 | a0001c0023t0001g0109 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.5547+842C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38487044 | ||||||
| chr19:38487063
|
A | G | 6 | a0001c0069t0001g0139a0004c0015t0001g0098a0004c0015t0001g0187others(3): Show | 6 | HG01884.hp1 HG02615.hp2 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.5547+861A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38487063 | ||||||
| chr19:38487359
|
T | G | 23 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(20): Show | 23 | HG00733.hp2 HG01099.hp2 HG01123.hp1 others(20): Show |
intron_variant | MODIFIER | c.5547+1157T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38487359 | ||||||
| chr19:38487482
|
T | C | 1 | a0001c0071t0001g0186 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.5547+1280T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38487482 | ||||||
| chr19:38487485
|
A | C | 65 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(62): Show | 65 | HG00733.hp2 HG01070.hp1 HG01099.hp2 others(62): Show |
intron_variant | MODIFIER | c.5547+1283A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38487485 | ||||||
| chr19:38487515
|
G | A | 1 | a0001c0120t0001g0132 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.5547+1313G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38487515 | ||||||
| chr19:38487596
|
C | T | 17 | a0002c0008t0001g0163a0002c0008t0001g0167a0002c0008t0001g0172others(14): Show | 17 | HG01243.hp1 HG01433.hp2 HG01943.hp2 others(14): Show |
intron_variant | MODIFIER | c.5547+1394C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38487596 | ||||||
| chr19:38487603
|
C | T | 17 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0052t0003g0034others(14): Show | 17 | HG01070.hp1 HG01109.hp1 HG01884.hp1 others(14): Show |
intron_variant | MODIFIER | c.5547+1401C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38487603 | ||||||
| chr19:38487641
|
C | T | 1 | a0001c0023t0001g0109 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.5547+1439C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38487641 | ||||||
| chr19:38487642
|
G | A | 7 | a0001c0002t0001g0085a0001c0002t0001g0087a0001c0002t0001g0095others(4): Show | 7 | NA18952.hp1 NA18998.hp2 NA19057.hp1 others(4): Show |
intron_variant | MODIFIER | c.5547+1440G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38487642 | ||||||
| chr19:38487746
|
G | A | 64 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(61): Show | 64 | HG00733.hp2 HG01070.hp1 HG01099.hp2 others(61): Show |
intron_variant | MODIFIER | c.5548-1431G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38487746 | ||||||
| chr19:38487746
|
G | T | 1 | a0001c0071t0001g0186 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.5548-1431G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38487746 | ||||||
| chr19:38487801
|
G | A | 25 | a0001c0014t0001g0004a0001c0014t0001g0024a0001c0014t0001g0025others(22): Show | 25 | HG01070.hp1 HG01109.hp1 HG01884.hp1 others(22): Show |
intron_variant | MODIFIER | c.5548-1376G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38487801 | ||||||
| chr19:38488078
|
A | G | 3 | a0001c0019t0002g0217a0001c0019t0002g0218a0030c0048t0001g0118 | 3 | HG01070.hp1 HG03942.hp1 NA19067.hp1 |
intron_variant | MODIFIER | c.5548-1099A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38488078 | ||||||
| chr19:38488534
|
G | C | 65 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(62): Show | 65 | HG00733.hp2 HG01070.hp1 HG01099.hp2 others(62): Show |
intron_variant | MODIFIER | c.5548-643G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38488534 | ||||||
| chr19:38488598
|
T | C | 16 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0052t0003g0034others(13): Show | 16 | HG01070.hp1 HG01109.hp1 HG01884.hp1 others(13): Show |
intron_variant | MODIFIER | c.5548-579T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38488598 | ||||||
| chr19:38488693
|
C | T | 1 | a0001c0071t0001g0186 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.5548-484C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38488693 | ||||||
| chr19:38488747
|
T | C | 65 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(62): Show | 65 | HG00733.hp2 HG01070.hp1 HG01099.hp2 others(62): Show |
intron_variant | MODIFIER | c.5548-430T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38488747 | ||||||
| chr19:38488821
|
T | G | 3 | a0001c0052t0003g0034a0001c0066t0001g0092a0003c0051t0003g0036 | 3 | NA18951.hp2 NA18980.hp2 NA19068.hp2 |
intron_variant | MODIFIER | c.5548-356T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38488821 | ||||||
| chr19:38488916
|
A | T | 31 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(28): Show | 31 | HG00733.hp2 HG01099.hp2 HG01123.hp1 others(28): Show |
intron_variant | MODIFIER | c.5548-261A>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38488916 | ||||||
| chr19:38488919
|
C | T | 1 | a0023c0109t0001g0020 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.5548-258C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38488919 | ||||||
| chr19:38489101
|
G | A | 30 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(27): Show | 30 | HG00733.hp2 HG01099.hp2 HG01123.hp1 others(27): Show |
intron_variant | MODIFIER | c.5548-76G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 34/105 | chr19 | 38489101 | ||||||
| chr19:38489478
|
C | G | 39 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(36): Show | 39 | HG00733.hp2 HG01099.hp2 HG01123.hp1 others(36): Show |
intron_variant | MODIFIER | c.5814+35C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 35/105 | chr19 | 38489478 | ||||||
| chr19:38489697
|
C | T | 1 | a0001c0019t0002g0218 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.5814+254C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 35/105 | chr19 | 38489697 | ||||||
| chr19:38489714
|
C | T | 4 | a0001c0110t0001g0157a0004c0115t0004g0216a0007c0037t0002g0214others(1): Show | 4 | HG02630.hp1 HG03453.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.5814+271C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 35/105 | chr19 | 38489714 | ||||||
| chr19:38489721
|
C | T | 1 | a0006c0007t0002g0213 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.5814+278C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 35/105 | chr19 | 38489721 | ||||||
| chr19:38489722
|
G | A | 1 | a0001c0071t0001g0186 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.5814+279G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 35/105 | chr19 | 38489722 | ||||||
| chr19:38489738
|
C | T | 1 | a0001c0071t0001g0186 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.5814+295C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 35/105 | chr19 | 38489738 | ||||||
| chr19:38489849
|
T | C | 73 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(70): Show | 73 | HG00733.hp2 HG01070.hp1 HG01099.hp2 others(70): Show |
intron_variant | MODIFIER | c.5815-227T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 35/105 | chr19 | 38489849 | ||||||
| chr19:38489953
|
G | A | 26 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(23): Show | 26 | HG01070.hp1 HG01109.hp1 HG01884.hp1 others(23): Show |
intron_variant | MODIFIER | c.5815-123G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 35/105 | chr19 | 38489953 | ||||||
| chr19:38490026
|
C | T | 2 | a0001c0004t0001g0096a0001c0004t0001g0119 | 2 | HG01175.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.5815-50C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 35/105 | chr19 | 38490026 | ||||||
| chr19:38490363
|
C | T | 23 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(20): Show | 23 | HG00733.hp2 HG01099.hp2 HG01123.hp1 others(20): Show |
intron_variant | MODIFIER | c.6015+87C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 36/105 | chr19 | 38490363 | ||||||
| chr19:38490514
|
G | A | 1 | a0017c0041t0001g0117 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.6016-107G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 36/105 | chr19 | 38490514 | ||||||
| chr19:38490831
|
G | A | 5 | a0001c0014t0001g0004a0001c0014t0001g0024a0001c0014t0001g0025others(2): Show | 5 | HG01891.hp2 HG02109.hp1 HG03139.hp2 others(2): Show |
intron_variant | MODIFIER | c.6127+99G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 37/105 | chr19 | 38490831 | ||||||
| chr19:38490899
|
C | T | 65 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(62): Show | 65 | HG00733.hp2 HG01070.hp1 HG01099.hp2 others(62): Show |
intron_variant | MODIFIER | c.6127+167C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 37/105 | chr19 | 38490899 | ||||||
| chr19:38491072
|
T | C | 10 | a0001c0069t0001g0139a0004c0015t0001g0098a0004c0015t0001g0187others(7): Show | 10 | HG01109.hp1 HG01884.hp1 HG02615.hp2 others(7): Show |
intron_variant | MODIFIER | c.6127+340T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 37/105 | chr19 | 38491072 | ||||||
| chr19:38491110
|
G | T | 1 | a0001c0071t0001g0186 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.6127+378G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 37/105 | chr19 | 38491110 | ||||||
| chr19:38491118
|
C | T | 23 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(20): Show | 23 | HG00733.hp2 HG01099.hp2 HG01123.hp1 others(20): Show |
intron_variant | MODIFIER | c.6127+386C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 37/105 | chr19 | 38491118 | ||||||
| chr19:38491138
|
C | T | 1 | a0018c0083t0002g0211 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.6127+406C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 37/105 | chr19 | 38491138 | ||||||
| chr19:38491143
|
G | A | 65 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(62): Show | 65 | HG00733.hp2 HG01070.hp1 HG01099.hp2 others(62): Show |
intron_variant | MODIFIER | c.6127+411G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 37/105 | chr19 | 38491143 | ||||||
| chr19:38491157
|
A | G | 4 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0071t0001g0186others(1): Show | 4 | HG01070.hp1 HG03130.hp1 HG03942.hp1 others(1): Show |
intron_variant | MODIFIER | c.6127+425A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 37/105 | chr19 | 38491157 | ||||||
| chr19:38491247
|
T | G | 6 | a0004c0084t0002g0210a0006c0007t0002g0202a0006c0007t0002g0203others(3): Show | 6 | HG01891.hp1 HG02257.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.6127+515T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 37/105 | chr19 | 38491247 | ||||||
| chr19:38491419
|
A | C | 73 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(70): Show | 73 | HG00733.hp2 HG01070.hp1 HG01099.hp2 others(70): Show |
intron_variant | MODIFIER | c.6127+687A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 37/105 | chr19 | 38491419 | ||||||
| chr19:38491434
|
C | CT | 29 | a0001c0003t0001g0100a0001c0004t0001g0096a0001c0011t0001g0003others(26): Show | 29 | HG01109.hp1 HG01175.hp1 HG01884.hp1 others(26): Show |
intron_variant | MODIFIER | c.6127+717dupT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 37/105 | INFO_REALIGN_3_PRIME | chr19 | 38491434 | |||||
| chr19:38491434
|
CT | C | 14 | a0001c0001t0001g0014a0001c0001t0001g0018a0001c0001t0001g0022others(11): Show | 14 | HG01257.hp1 HG01891.hp2 HG02109.hp1 others(11): Show |
intron_variant | MODIFIER | c.6127+717delT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 37/105 | INFO_REALIGN_3_PRIME | chr19 | 38491434 | |||||
| chr19:38491466
|
G | C | 5 | a0001c0014t0001g0004a0001c0014t0001g0024a0001c0014t0001g0025others(2): Show | 5 | HG01891.hp2 HG02109.hp1 HG03139.hp2 others(2): Show |
intron_variant | MODIFIER | c.6127+734G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 37/105 | chr19 | 38491466 | ||||||
| chr19:38491584
|
A | G | 1 | a0026c0046t0001g0127 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.6127+852A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 37/105 | chr19 | 38491584 | ||||||
| chr19:38491585
|
C | T | 3 | a0001c0019t0002g0217a0001c0019t0002g0218a0030c0048t0001g0118 | 3 | HG01070.hp1 HG03942.hp1 NA19067.hp1 |
intron_variant | MODIFIER | c.6127+853C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 37/105 | chr19 | 38491585 | ||||||
| chr19:38491639
|
A | T | 12 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(9): Show | 12 | HG02109.hp2 HG02257.hp1 HG02559.hp2 others(9): Show |
intron_variant | MODIFIER | c.6128-851A>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 37/105 | chr19 | 38491639 | ||||||
| chr19:38491718
|
T | C | 110 | a0001c0004t0001g0101a0001c0004t0001g0103a0001c0005t0001g0154others(107): Show | 110 | HG00438.hp1 HG00621.hp2 HG00733.hp2 others(107): Show |
intron_variant | MODIFIER | c.6128-772T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 37/105 | chr19 | 38491718 | ||||||
| chr19:38491726
|
G | C | 3 | a0014c0073t0001g0126a0019c0080t0001g0142a0020c0081t0001g0143 | 3 | HG02647.hp2 HG03041.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.6128-764G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 37/105 | chr19 | 38491726 | ||||||
| chr19:38491925
|
C | T | 4 | a0001c0110t0001g0157a0004c0115t0004g0216a0007c0037t0002g0214others(1): Show | 4 | HG02630.hp1 HG03453.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.6128-565C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 37/105 | chr19 | 38491925 | ||||||
| chr19:38492040
|
A | C | 6 | a0004c0084t0002g0210a0006c0007t0002g0202a0006c0007t0002g0203others(3): Show | 6 | HG01891.hp1 HG02257.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.6128-450A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 37/105 | chr19 | 38492040 | ||||||
| chr19:38492209
|
T | C | 23 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(20): Show | 23 | HG00733.hp2 HG01099.hp2 HG01123.hp1 others(20): Show |
intron_variant | MODIFIER | c.6128-281T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 37/105 | chr19 | 38492209 | ||||||
| chr19:38492306
|
A | T | 23 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(20): Show | 23 | HG00733.hp2 HG01099.hp2 HG01123.hp1 others(20): Show |
intron_variant | MODIFIER | c.6128-184A>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 37/105 | chr19 | 38492306 | ||||||
| chr19:38492320
|
A | G | 3 | a0001c0019t0002g0217a0001c0019t0002g0218a0030c0048t0001g0118 | 3 | HG01070.hp1 HG03942.hp1 NA19067.hp1 |
intron_variant | MODIFIER | c.6128-170A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 37/105 | chr19 | 38492320 | ||||||
| chr19:38492347
|
C | T | 3 | a0008c0010t0001g0006a0008c0010t0001g0007a0008c0010t0001g0008 | 3 | HG02965.hp1 HG03139.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.6128-143C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 37/105 | chr19 | 38492347 | ||||||
| chr19:38492360
|
C | CA | 15 | a0001c0014t0001g0004a0001c0014t0001g0024a0001c0014t0001g0025others(12): Show | 15 | HG01891.hp1 HG01891.hp2 HG02109.hp1 others(12): Show |
intron_variant | MODIFIER | c.6128-113dupA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 37/105 | INFO_REALIGN_3_PRIME | chr19 | 38492360 | |||||
| chr19:38492360
|
C | CAA | 22 | a0001c0001t0001g0028a0001c0011t0001g0003a0001c0011t0001g0005others(19): Show | 22 | HG01109.hp1 HG01884.hp1 HG02109.hp2 others(19): Show |
intron_variant | MODIFIER | c.6128-114_6128-113d others(4): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 37/105 | INFO_REALIGN_3_PRIME | chr19 | 38492360 | |||||
| chr19:38492360
|
CA | C | 20 | a0001c0001t0001g0040a0001c0001t0001g0148a0001c0009t0001g0199others(17): Show | 20 | HG01169.hp2 HG01255.hp2 HG01257.hp2 others(17): Show |
intron_variant | MODIFIER | c.6128-113delA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 37/105 | INFO_REALIGN_3_PRIME | chr19 | 38492360 | |||||
| chr19:38492758
|
T | A | 1 | a0001c0005t0001g0176 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.6274+122T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 38/105 | chr19 | 38492758 | ||||||
| chr19:38492894
|
C | A | 33 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(30): Show | 33 | HG00733.hp2 HG01099.hp2 HG01123.hp1 others(30): Show |
intron_variant | MODIFIER | c.6274+258C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 38/105 | chr19 | 38492894 | ||||||
| chr19:38492935
|
C | T | 35 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(32): Show | 35 | HG01070.hp1 HG01109.hp1 HG01884.hp1 others(32): Show |
intron_variant | MODIFIER | c.6274+299C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 38/105 | chr19 | 38492935 | ||||||
| chr19:38492977
|
G | A | 1 | a0001c0005t0001g0155 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.6274+341G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 38/105 | chr19 | 38492977 | ||||||
| chr19:38492993
|
C | T | 2 | a0001c0003t0002g0206a0001c0003t0002g0207 | 2 | HG02615.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.6274+357C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 38/105 | chr19 | 38492993 | ||||||
| chr19:38493055
|
C | T | 1 | a0023c0109t0001g0020 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.6274+419C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 38/105 | chr19 | 38493055 | ||||||
| chr19:38493176
|
A | C | 6 | a0001c0014t0001g0004a0001c0014t0001g0024a0001c0014t0001g0025others(3): Show | 6 | HG01891.hp2 HG02109.hp1 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.6274+540A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 38/105 | chr19 | 38493176 | ||||||
| chr19:38493198
|
G | A | 4 | a0001c0052t0003g0034a0001c0066t0001g0092a0003c0051t0003g0036others(1): Show | 4 | HG02630.hp1 NA18951.hp2 NA18980.hp2 others(1): Show |
intron_variant | MODIFIER | c.6274+562G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 38/105 | chr19 | 38493198 | ||||||
| chr19:38493515
|
CG | C | 21 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(18): Show | 21 | HG01891.hp2 HG02109.hp1 HG02109.hp2 others(18): Show |
intron_variant | MODIFIER | c.6275-836delG | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 38/105 | chr19 | 38493515 | ||||||
| chr19:38493516
|
G | GT | 51 | a0001c0001t0001g0011a0001c0001t0001g0022a0001c0001t0001g0026others(48): Show | 51 | HG00642.hp1 HG00642.hp2 HG01106.hp2 others(48): Show |
intron_variant | MODIFIER | c.6275-819dupT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 38/105 | INFO_REALIGN_3_PRIME | chr19 | 38493516 | |||||
| chr19:38493516
|
G | T | 13 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0069t0001g0139others(10): Show | 13 | HG01070.hp1 HG01109.hp1 HG01884.hp1 others(10): Show |
intron_variant | MODIFIER | c.6275-836G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 38/105 | chr19 | 38493516 | ||||||
| chr19:38493521
|
T | A | 3 | a0001c0019t0002g0217a0001c0019t0002g0218a0030c0048t0001g0118 | 3 | HG01070.hp1 HG03942.hp1 NA19067.hp1 |
intron_variant | MODIFIER | c.6275-831T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 38/105 | chr19 | 38493521 | ||||||
| chr19:38493639
|
C | T | 1 | a0023c0109t0001g0020 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.6275-713C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 38/105 | chr19 | 38493639 | ||||||
| chr19:38493801
|
T | C | 3 | a0014c0073t0001g0126a0019c0080t0001g0142a0020c0081t0001g0143 | 3 | HG02647.hp2 HG03041.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.6275-551T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 38/105 | chr19 | 38493801 | ||||||
| chr19:38493925
|
T | C | 6 | a0004c0084t0002g0210a0006c0007t0002g0202a0006c0007t0002g0203others(3): Show | 6 | HG01891.hp1 HG02257.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.6275-427T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 38/105 | chr19 | 38493925 | ||||||
| chr19:38494073
|
G | A | 1 | a0001c0054t0001g0136 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.6275-279G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 38/105 | chr19 | 38494073 | ||||||
| chr19:38494118
|
G | A | 1 | a0004c0084t0002g0210 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.6275-234G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 38/105 | chr19 | 38494118 | ||||||
| chr19:38494227
|
C | T | 2 | a0001c0052t0003g0034a0001c0066t0001g0092 | 2 | NA18951.hp2 NA18980.hp2 |
intron_variant | MODIFIER | c.6275-125C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 38/105 | chr19 | 38494227 | ||||||
| chr19:38494281
|
T | C | 6 | a0004c0084t0002g0210a0006c0007t0002g0202a0006c0007t0002g0203others(3): Show | 6 | HG01891.hp1 HG02257.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.6275-71T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 38/105 | chr19 | 38494281 | ||||||
| chr19:38494304
|
C | T | 2 | a0004c0047t0002g0205a0016c0106t0001g0099 | 2 | HG03139.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.6275-48C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 38/105 | chr19 | 38494304 | ||||||
| chr19:38494668
|
G | A | 7 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(4): Show | 7 | HG01255.hp2 HG01257.hp2 HG01258.hp2 others(4): Show |
intron_variant | MODIFIER | c.6548+43G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 39/105 | chr19 | 38494668 | ||||||
| chr19:38494744
|
C | T | 1 | a0001c0005t0001g0176 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.6548+119C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 39/105 | chr19 | 38494744 | ||||||
| chr19:38494820
|
T | C | 5 | a0001c0052t0003g0034a0001c0066t0001g0092a0001c0070t0001g0002others(2): Show | 5 | HG02622.hp1 NA18522.hp2 NA18951.hp2 others(2): Show |
intron_variant | MODIFIER | c.6548+195T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 39/105 | chr19 | 38494820 | ||||||
| chr19:38494852
|
C | CT | 30 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(27): Show | 30 | HG01070.hp1 HG01109.hp1 HG01884.hp1 others(27): Show |
intron_variant | MODIFIER | c.6548+227_6548+228i others(3): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 39/105 | chr19 | 38494852 | ||||||
| chr19:38494852
|
C | CTT | 2 | a0001c0019t0002g0218a0001c0059t0001g0184 | 2 | HG02647.hp1 NA19067.hp1 |
intron_variant | MODIFIER | c.6548+227_6548+228i others(4): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 39/105 | chr19 | 38494852 | ||||||
| chr19:38494853
|
C | CT | 11 | a0001c0001t0001g0022a0001c0001t0001g0028a0001c0001t0001g0094others(8): Show | 11 | HG01175.hp1 HG01433.hp1 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.6548+243dupT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 39/105 | INFO_REALIGN_3_PRIME | chr19 | 38494853 | |||||
| chr19:38494853
|
C | T | 34 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(31): Show | 34 | HG01070.hp1 HG01109.hp1 HG01884.hp1 others(31): Show |
intron_variant | MODIFIER | c.6548+228C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 39/105 | chr19 | 38494853 | ||||||
| chr19:38494853
|
CT | C | 28 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(25): Show | 28 | HG01099.hp2 HG01123.hp1 HG01243.hp1 others(25): Show |
intron_variant | MODIFIER | c.6548+243delT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 39/105 | INFO_REALIGN_3_PRIME | chr19 | 38494853 | |||||
| chr19:38494853
|
CTT | C | 6 | a0004c0084t0002g0210a0006c0007t0002g0202a0006c0007t0002g0203others(3): Show | 6 | HG01891.hp1 HG02257.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.6548+242_6548+243d others(4): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 39/105 | INFO_REALIGN_3_PRIME | chr19 | 38494853 | |||||
| chr19:38494854
|
T | C | 1 | a0001c0005t0001g0176 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.6548+229T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 39/105 | chr19 | 38494854 | ||||||
| chr19:38494884
|
A | G | 1 | a0001c0001t0001g0088 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.6548+259A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 39/105 | chr19 | 38494884 | ||||||
| chr19:38495015
|
G | C | 1 | a0001c0075t0001g0165 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.6548+390G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 39/105 | chr19 | 38495015 | ||||||
| chr19:38495061
|
AGACTAGT others(3): Show |
A | 3 | a0001c0052t0003g0034a0001c0066t0001g0092a0003c0051t0003g0036 | 3 | NA18951.hp2 NA18980.hp2 NA19068.hp2 |
intron_variant | MODIFIER | c.6548+439_6548+448d others(12): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 39/105 | INFO_REALIGN_3_PRIME | chr19 | 38495061 | |||||
| chr19:38495078
|
C | T | 1 | a0001c0068t0002g0209 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.6548+453C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 39/105 | chr19 | 38495078 | ||||||
| chr19:38495110
|
C | T | 3 | a0001c0052t0003g0034a0001c0066t0001g0092a0003c0051t0003g0036 | 3 | NA18951.hp2 NA18980.hp2 NA19068.hp2 |
intron_variant | MODIFIER | c.6548+485C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 39/105 | chr19 | 38495110 | ||||||
| chr19:38495339
|
G | A | 65 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(62): Show | 65 | HG00733.hp2 HG01070.hp1 HG01099.hp2 others(62): Show |
intron_variant | MODIFIER | c.6548+714G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 39/105 | chr19 | 38495339 | ||||||
| chr19:38495629
|
A | T | 63 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(60): Show | 63 | HG00733.hp2 HG01070.hp1 HG01099.hp2 others(60): Show |
intron_variant | MODIFIER | c.6549-586A>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 39/105 | chr19 | 38495629 | ||||||
| chr19:38495637
|
C | A | 5 | a0001c0052t0003g0034a0001c0066t0001g0092a0001c0070t0001g0002others(2): Show | 5 | HG02622.hp1 NA18522.hp2 NA18951.hp2 others(2): Show |
intron_variant | MODIFIER | c.6549-578C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 39/105 | chr19 | 38495637 | ||||||
| chr19:38495775
|
T | A | 3 | a0001c0052t0003g0034a0001c0066t0001g0092a0003c0051t0003g0036 | 3 | NA18951.hp2 NA18980.hp2 NA19068.hp2 |
intron_variant | MODIFIER | c.6549-440T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 39/105 | chr19 | 38495775 | ||||||
| chr19:38495855
|
C | T | 3 | a0010c0021t0001g0177a0010c0021t0001g0178a0019c0080t0001g0142 | 3 | HG02647.hp2 HG03017.hp2 HG03710.hp2 |
intron_variant | MODIFIER | c.6549-360C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 39/105 | chr19 | 38495855 | ||||||
| chr19:38495889
|
C | T | 3 | a0008c0010t0001g0006a0008c0010t0001g0007a0008c0010t0001g0008 | 3 | HG02965.hp1 HG03139.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.6549-326C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 39/105 | chr19 | 38495889 | ||||||
| chr19:38495919
|
C | T | 2 | a0015c0086t0001g0019a0017c0041t0001g0117 | 2 | HG03209.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.6549-296C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 39/105 | chr19 | 38495919 | ||||||
| chr19:38496058
|
C | T | 23 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(20): Show | 23 | HG01070.hp1 HG01884.hp1 HG02109.hp2 others(20): Show |
intron_variant | MODIFIER | c.6549-157C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 39/105 | chr19 | 38496058 | ||||||
| chr19:38496377
|
A | G | 16 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(13): Show | 16 | HG02109.hp2 HG02257.hp1 HG02559.hp2 others(13): Show |
intron_variant | MODIFIER | c.6664-32A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 40/105 | chr19 | 38496377 | ||||||
| chr19:38496564
|
G | A | 1 | a0002c0053t0001g0106 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.6796+23G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 41/105 | chr19 | 38496564 | ||||||
| chr19:38496582
|
C | T | 1 | a0028c0087t0001g0023 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.6796+41C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 41/105 | chr19 | 38496582 | ||||||
| chr19:38496673
|
G | C | 6 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(3): Show | 6 | HG01099.hp2 HG01123.hp1 HG01256.hp1 others(3): Show |
intron_variant | MODIFIER | c.6796+132G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 41/105 | chr19 | 38496673 | ||||||
| chr19:38496732
|
T | C | 1 | a0001c0059t0001g0184 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.6797-128T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 41/105 | chr19 | 38496732 | ||||||
| chr19:38496781
|
A | G | 2 | a0001c0003t0001g0105a0034c0042t0001g0104 | 2 | HG01978.hp2 HG02293.hp1 |
intron_variant | MODIFIER | c.6797-79A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 41/105 | chr19 | 38496781 | ||||||
| chr19:38496810
|
A | G | 2 | a0007c0039t0001g0031a0018c0083t0002g0211 | 2 | HG03130.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.6797-50A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 41/105 | chr19 | 38496810 | ||||||
| chr19:38496812
|
G | A | 2 | a0001c0065t0001g0131a0002c0012t0001g0171 | 2 | HG03669.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.6797-48G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 41/105 | chr19 | 38496812 | ||||||
| chr19:38496831
|
G | A | 1 | a0032c0074t0001g0032 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.6797-29G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 41/105 | chr19 | 38496831 | ||||||
| chr19:38497142
|
G | A | 1 | a0003c0064t0001g0181 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.6891+188G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 42/105 | chr19 | 38497142 | ||||||
| chr19:38497153
|
G | A | 14 | a0001c0019t0002g0218a0001c0022t0001g0051a0001c0022t0001g0052others(11): Show | 14 | HG01943.hp2 HG02015.hp1 HG02074.hp1 others(11): Show |
intron_variant | MODIFIER | c.6891+199G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 42/105 | chr19 | 38497153 | ||||||
| chr19:38497173
|
CGTCTGGG others(25): Show |
C | 7 | a0001c0001t0001g0075a0001c0005t0001g0154a0001c0005t0001g0155others(4): Show | 7 | HG00733.hp2 HG01099.hp2 HG01123.hp1 others(4): Show |
intron_variant | MODIFIER | c.6891+221_6891+252d others(34): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 42/105 | INFO_REALIGN_3_PRIME | chr19 | 38497173 | |||||
| chr19:38497205
|
G | C | 17 | a0001c0013t0001g0115a0001c0044t0001g0048a0001c0065t0001g0131others(14): Show | 17 | HG00621.hp1 HG01099.hp1 HG01175.hp2 others(14): Show |
intron_variant | MODIFIER | c.6891+251G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 42/105 | chr19 | 38497205 | ||||||
| chr19:38497226
|
T | G | 60 | a0001c0001t0001g0028a0001c0003t0001g0107a0001c0009t0001g0199others(57): Show | 60 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(57): Show |
intron_variant | MODIFIER | c.6891+272T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 42/105 | chr19 | 38497226 | ||||||
| chr19:38497236
|
AGGCTGGG others(25): Show |
A | 3 | a0001c0014t0001g0004a0001c0014t0001g0024a0001c0014t0001g0025 | 3 | HG01891.hp2 HG02109.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.6891+302_6891+333d others(34): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 42/105 | INFO_REALIGN_3_PRIME | chr19 | 38497236 | |||||
| chr19:38497287
|
A | C | 4 | a0006c0007t0002g0202a0006c0007t0002g0203a0006c0007t0002g0212others(1): Show | 4 | HG01891.hp1 HG02257.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.6891+333A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 42/105 | chr19 | 38497287 | ||||||
| chr19:38497359
|
G | A | 1 | a0001c0005t0001g0176 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.6891+405G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 42/105 | chr19 | 38497359 | ||||||
| chr19:38497365
|
C | T | 2 | a0001c0071t0001g0186a0015c0086t0001g0019 | 2 | HG03130.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.6891+411C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 42/105 | chr19 | 38497365 | ||||||
| chr19:38497386
|
A | G | 11 | a0001c0020t0001g0185a0001c0020t0001g0197a0001c0059t0001g0184others(8): Show | 11 | HG00609.hp1 HG01123.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.6891+432A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 42/105 | chr19 | 38497386 | ||||||
| chr19:38497399
|
G | A | 18 | a0001c0013t0001g0056a0001c0013t0001g0060a0001c0013t0001g0115others(15): Show | 18 | HG00438.hp2 HG00609.hp1 HG00621.hp1 others(15): Show |
intron_variant | MODIFIER | c.6891+445G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 42/105 | chr19 | 38497399 | ||||||
| chr19:38497439
|
G | A | 1 | a0001c0077t0001g0047 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.6891+485G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 42/105 | chr19 | 38497439 | ||||||
| chr19:38497455
|
G | T | 7 | a0001c0001t0001g0022a0001c0001t0001g0026a0001c0001t0001g0064others(4): Show | 7 | HG01884.hp2 HG02615.hp1 HG02723.hp1 others(4): Show |
intron_variant | MODIFIER | c.6891+501G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 42/105 | chr19 | 38497455 | ||||||
| chr19:38497531
|
T | A | 1 | a0016c0106t0001g0099 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.6891+577T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 42/105 | chr19 | 38497531 | ||||||
| chr19:38497672
|
A | T | 17 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(14): Show | 17 | HG00733.hp2 HG01099.hp2 HG01123.hp1 others(14): Show |
intron_variant | MODIFIER | c.6891+718A>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 42/105 | chr19 | 38497672 | ||||||
| chr19:38497712
|
A | G | 8 | a0001c0013t0001g0056a0001c0013t0001g0060a0001c0013t0001g0115others(5): Show | 8 | HG00438.hp2 HG00621.hp1 HG01123.hp2 others(5): Show |
intron_variant | MODIFIER | c.6891+758A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 42/105 | chr19 | 38497712 | ||||||
| chr19:38497731
|
T | C | 31 | a0001c0014t0001g0004a0001c0014t0001g0024a0001c0014t0001g0025others(28): Show | 31 | HG00639.hp2 HG00735.hp2 HG01070.hp1 others(28): Show |
intron_variant | MODIFIER | c.6891+777T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 42/105 | chr19 | 38497731 | ||||||
| chr19:38497732
|
G | A | 1 | a0001c0052t0003g0034 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.6891+778G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 42/105 | chr19 | 38497732 | ||||||
| chr19:38497892
|
T | C | 1 | a0001c0011t0001g0021 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.6891+938T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 42/105 | chr19 | 38497892 | ||||||
| chr19:38497905
|
G | A | 1 | a0001c0001t0001g0077 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.6891+951G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 42/105 | chr19 | 38497905 | ||||||
| chr19:38497927
|
G | A | 103 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(100): Show | 103 | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(100): Show |
intron_variant | MODIFIER | c.6891+973G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 42/105 | chr19 | 38497927 | ||||||
| chr19:38497930
|
A | T | 1 | a0001c0069t0001g0139 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.6891+976A>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 42/105 | chr19 | 38497930 | ||||||
| chr19:38498017
|
G | A | 1 | a0007c0038t0002g0215 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.6891+1063G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 42/105 | chr19 | 38498017 | ||||||
| chr19:38498190
|
G | A | 35 | a0001c0014t0001g0004a0001c0014t0001g0024a0001c0014t0001g0025others(32): Show | 35 | HG00639.hp2 HG00735.hp2 HG01070.hp1 others(32): Show |
intron_variant | MODIFIER | c.6892-918G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 42/105 | chr19 | 38498190 | ||||||
| chr19:38498207
|
G | A | 35 | a0001c0014t0001g0004a0001c0014t0001g0024a0001c0014t0001g0025others(32): Show | 35 | HG00639.hp2 HG00735.hp2 HG01070.hp1 others(32): Show |
intron_variant | MODIFIER | c.6892-901G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 42/105 | chr19 | 38498207 | ||||||
| chr19:38498227
|
A | T | 18 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(15): Show | 18 | HG00733.hp2 HG01099.hp2 HG01123.hp1 others(15): Show |
intron_variant | MODIFIER | c.6892-881A>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 42/105 | chr19 | 38498227 | ||||||
| chr19:38498376
|
G | A | 1 | a0001c0013t0001g0060 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.6892-732G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 42/105 | chr19 | 38498376 | ||||||
| chr19:38498383
|
G | A | 5 | a0001c0019t0002g0218a0006c0007t0002g0202a0006c0007t0002g0203others(2): Show | 5 | HG01891.hp1 HG02257.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.6892-725G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 42/105 | chr19 | 38498383 | ||||||
| chr19:38498805
|
T | C | 1 | a0016c0106t0001g0099 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.6892-303T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 42/105 | chr19 | 38498805 | ||||||
| chr19:38498934
|
A | G | 1 | a0001c0044t0001g0048 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.6892-174A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 42/105 | chr19 | 38498934 | ||||||
| chr19:38499018
|
CGCAGG | C | 16 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0070others(13): Show | 16 | HG00609.hp1 HG01106.hp2 HG01243.hp2 others(13): Show |
intron_variant | MODIFIER | c.6892-70_6892-66del others(5): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 42/105 | INFO_REALIGN_3_PRIME | chr19 | 38499018 | |||||
| chr19:38499270
|
C | T | 7 | a0001c0013t0001g0056a0001c0013t0001g0060a0001c0013t0001g0115others(4): Show | 7 | HG00438.hp2 HG00621.hp1 HG01123.hp2 others(4): Show |
intron_variant | MODIFIER | c.7027+27C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 43/105 | chr19 | 38499270 | ||||||
| chr19:38499306
|
G | A | 7 | a0001c0013t0001g0056a0001c0013t0001g0060a0001c0013t0001g0115others(4): Show | 7 | HG00438.hp2 HG00621.hp1 HG01123.hp2 others(4): Show |
intron_variant | MODIFIER | c.7027+63G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 43/105 | chr19 | 38499306 | ||||||
| chr19:38499431
|
ATCCTGGG others(38): Show |
A | 36 | a0001c0014t0001g0004a0001c0014t0001g0024a0001c0014t0001g0025others(33): Show | 36 | HG00639.hp2 HG00735.hp2 HG01070.hp1 others(33): Show |
intron_variant | MODIFIER | c.7028-190_7028-146d others(47): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 43/105 | INFO_REALIGN_3_PRIME | chr19 | 38499431 | |||||
| chr19:38499506
|
C | T | 36 | a0001c0014t0001g0004a0001c0014t0001g0024a0001c0014t0001g0025others(33): Show | 36 | HG00639.hp2 HG00735.hp2 HG01070.hp1 others(33): Show |
intron_variant | MODIFIER | c.7028-129C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 43/105 | chr19 | 38499506 | ||||||
| chr19:38499532
|
G | T | 1 | a0007c0038t0002g0215 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.7028-103G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 43/105 | chr19 | 38499532 | ||||||
| chr19:38500036
|
C | A | 24 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(21): Show | 24 | HG00438.hp1 HG00621.hp2 HG00639.hp1 others(21): Show |
intron_variant | MODIFIER | c.7323+20C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 45/105 | chr19 | 38500036 | ||||||
| chr19:38500140
|
T | A | 1 | a0004c0115t0004g0216 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.7323+124T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 45/105 | chr19 | 38500140 | ||||||
| chr19:38500268
|
C | T | 1 | a0007c0038t0002g0215 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.7323+252C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 45/105 | chr19 | 38500268 | ||||||
| chr19:38500360
|
TA | T | 5 | a0001c0062t0001g0050a0001c0063t0001g0049a0002c0025t0001g0162others(2): Show | 5 | HG00639.hp2 HG00735.hp2 HG03669.hp2 others(2): Show |
intron_variant | MODIFIER | c.7324-245delA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 45/105 | chr19 | 38500360 | ||||||
| chr19:38500368
|
G | A | 7 | a0001c0013t0001g0056a0001c0013t0001g0060a0001c0013t0001g0115others(4): Show | 7 | HG00438.hp2 HG00621.hp1 HG01123.hp2 others(4): Show |
intron_variant | MODIFIER | c.7324-238G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 45/105 | chr19 | 38500368 | ||||||
| chr19:38500468
|
G | A | 1 | a0002c0078t0001g0130 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.7324-138G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 45/105 | chr19 | 38500468 | ||||||
| chr19:38501000
|
C | G | 77 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(74): Show | 77 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(74): Show |
intron_variant | MODIFIER | c.7614+10C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 47/105 | chr19 | 38501000 | ||||||
| chr19:38501094
|
G | A | 2 | a0001c0071t0001g0186a0015c0086t0001g0019 | 2 | HG03130.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.7614+104G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 47/105 | chr19 | 38501094 | ||||||
| chr19:38501249
|
C | T | 56 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(53): Show | 56 | HG00609.hp1 HG00733.hp2 HG01099.hp2 others(53): Show |
intron_variant | MODIFIER | c.7614+259C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 47/105 | chr19 | 38501249 | ||||||
| chr19:38501324
|
C | T | 54 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(51): Show | 54 | HG00438.hp1 HG00621.hp2 HG00639.hp1 others(51): Show |
intron_variant | MODIFIER | c.7614+334C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 47/105 | chr19 | 38501324 | ||||||
| chr19:38501422
|
G | A | 1 | a0004c0084t0002g0210 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.7614+432G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 47/105 | chr19 | 38501422 | ||||||
| chr19:38501446
|
C | T | 4 | a0001c0027t0001g0030a0001c0027t0001g0059a0001c0067t0001g0183others(1): Show | 4 | HG01169.hp1 HG01975.hp2 HG01981.hp1 others(1): Show |
intron_variant | MODIFIER | c.7614+456C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 47/105 | chr19 | 38501446 | ||||||
| chr19:38501447
|
G | A | 4 | a0001c0028t0001g0182a0001c0085t0001g0198a0003c0100t0001g0150others(1): Show | 4 | HG00438.hp1 HG00621.hp2 HG01071.hp2 others(1): Show |
intron_variant | MODIFIER | c.7614+457G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 47/105 | chr19 | 38501447 | ||||||
| chr19:38501457
|
C | T | 1 | a0022c0060t0001g0112 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.7614+467C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 47/105 | chr19 | 38501457 | ||||||
| chr19:38501464
|
C | G | 1 | a0001c0120t0001g0132 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.7614+474C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 47/105 | chr19 | 38501464 | ||||||
| chr19:38501474
|
G | A | 7 | a0001c0013t0001g0056a0001c0013t0001g0060a0001c0013t0001g0115others(4): Show | 7 | HG00438.hp2 HG00621.hp1 HG01123.hp2 others(4): Show |
intron_variant | MODIFIER | c.7614+484G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 47/105 | chr19 | 38501474 | ||||||
| chr19:38501483
|
C | T | 1 | a0018c0083t0002g0211 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.7614+493C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 47/105 | chr19 | 38501483 | ||||||
| chr19:38501504
|
AT | A | 5 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(2): Show | 5 | HG02897.hp2 HG02922.hp1 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.7614+515delT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 47/105 | chr19 | 38501504 | ||||||
| chr19:38501538
|
G | A | 110 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(107): Show | 110 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(107): Show |
intron_variant | MODIFIER | c.7614+548G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 47/105 | chr19 | 38501538 | ||||||
| chr19:38501715
|
A | G | 21 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(18): Show | 21 | HG00438.hp1 HG00621.hp2 HG00639.hp1 others(18): Show |
intron_variant | MODIFIER | c.7614+725A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 47/105 | chr19 | 38501715 | ||||||
| chr19:38501757
|
G | A | 1 | a0007c0039t0001g0031 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.7615-750G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 47/105 | chr19 | 38501757 | ||||||
| chr19:38501925
|
G | T | 8 | a0001c0027t0001g0030a0001c0027t0001g0059a0001c0067t0001g0183others(5): Show | 8 | HG01169.hp1 HG01433.hp1 HG01975.hp2 others(5): Show |
intron_variant | MODIFIER | c.7615-582G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 47/105 | chr19 | 38501925 | ||||||
| chr19:38501972
|
C | A | 54 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(51): Show | 54 | HG00438.hp1 HG00621.hp2 HG00639.hp1 others(51): Show |
intron_variant | MODIFIER | c.7615-535C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 47/105 | chr19 | 38501972 | ||||||
| chr19:38501987
|
G | GA | 110 | a0001c0001t0001g0058a0001c0005t0001g0154a0001c0005t0001g0155others(107): Show | 110 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(107): Show |
intron_variant | MODIFIER | c.7615-510dupA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 47/105 | INFO_REALIGN_3_PRIME | chr19 | 38501987 | |||||
| chr19:38502027
|
C | T | 2 | a0001c0071t0001g0186a0015c0086t0001g0019 | 2 | HG03130.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.7615-480C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 47/105 | chr19 | 38502027 | ||||||
| chr19:38502212
|
C | T | 6 | a0001c0056t0001g0135a0001c0062t0001g0050a0001c0063t0001g0049others(3): Show | 6 | HG00639.hp2 HG00735.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.7615-295C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 47/105 | chr19 | 38502212 | ||||||
| chr19:38502270
|
A | C | 56 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(53): Show | 56 | HG00609.hp1 HG00733.hp2 HG01099.hp2 others(53): Show |
intron_variant | MODIFIER | c.7615-237A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 47/105 | chr19 | 38502270 | ||||||
| chr19:38502439
|
C | T | 1 | a0001c0101t0001g0041 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.7615-68C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 47/105 | chr19 | 38502439 | ||||||
| chr19:38502500
|
G | A | 1 | a0001c0056t0001g0135 | 1 | HG02559.hp2 | splice_region_variant&intron_variant | LOW | c.7615-7G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 47/105 | chr19 | 38502500 | ||||||
| chr19:38502732
|
A | G | 111 | a0001c0001t0001g0058a0001c0005t0001g0154a0001c0005t0001g0155others(108): Show | 111 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(108): Show |
splice_region_variant&intron_variant | LOW | c.7835+5A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | chr19 | 38502732 | ||||||
| chr19:38502734
|
C | T | 4 | a0006c0007t0002g0202a0006c0007t0002g0203a0006c0007t0002g0212others(1): Show | 4 | HG01891.hp1 HG02257.hp2 HG03098.hp1 others(1): Show |
splice_region_variant&intron_variant | LOW | c.7835+7C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | chr19 | 38502734 | ||||||
| chr19:38502751
|
T | TGGGGCA | 21 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0039others(18): Show | 21 | HG01106.hp1 HG01175.hp1 HG01981.hp1 others(18): Show |
intron_variant | MODIFIER | c.7836-76_7836-71dup others(6): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | 38502751 | |||||
| chr19:38502751
|
T | TGGGGCAG others(5): Show |
9 | a0001c0002t0001g0085a0001c0002t0001g0087a0001c0003t0001g0116others(6): Show | 9 | HG00642.hp2 HG00735.hp1 HG01243.hp2 others(6): Show |
intron_variant | MODIFIER | c.7835+71_7836-71dup others(12): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | 38502751 | |||||
| chr19:38502751
|
T | TGGGGCAG others(11): Show |
7 | a0001c0001t0001g0028a0001c0001t0001g0043a0001c0044t0001g0048others(4): Show | 7 | HG00642.hp1 HG01099.hp1 HG01123.hp2 others(4): Show |
intron_variant | MODIFIER | c.7835+65_7836-71dup others(18): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | 38502751 | |||||
| chr19:38502751
|
T | TGGGGCAG others(17): Show |
1 | a0001c0001t0001g0077 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.7835+59_7836-71dup others(24): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | 38502751 | |||||
| chr19:38502751
|
T | TGGGGCAG others(23): Show |
3 | a0001c0001t0001g0012a0013c0040t0001g0108a0016c0106t0001g0099 | 3 | HG00733.hp1 HG03139.hp2 HG03710.hp1 |
intron_variant | MODIFIER | c.7835+53_7836-71dup others(30): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | 38502751 | |||||
| chr19:38502751
|
TGGGGCA | T | 18 | a0001c0001t0001g0067a0001c0001t0001g0069a0001c0001t0001g0070others(15): Show | 18 | HG01255.hp1 HG01934.hp2 HG01978.hp1 others(15): Show |
intron_variant | MODIFIER | c.7836-76_7836-71del others(6): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | 38502751 | |||||
| chr19:38502751
|
TGGGGCAG others(5): Show |
T | 16 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0018others(13): Show | 16 | HG00438.hp2 HG01169.hp2 HG01943.hp1 others(13): Show |
intron_variant | MODIFIER | c.7835+71_7836-71del others(12): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | 38502751 | |||||
| chr19:38502751
|
TGGGGCAG others(11): Show |
T | 3 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0066t0001g0092 | 3 | HG01070.hp2 HG01071.hp1 NA18951.hp2 |
intron_variant | MODIFIER | c.7835+65_7836-71del others(18): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | 38502751 | |||||
| chr19:38502754
|
G | C | 8 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(5): Show | 8 | HG01884.hp1 HG02615.hp2 HG02897.hp2 others(5): Show |
intron_variant | MODIFIER | c.7835+27G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | chr19 | 38502754 | ||||||
| chr19:38502772
|
GGCAGGGG others(35): Show |
G | 3 | a0008c0010t0001g0006a0008c0010t0001g0007a0008c0010t0001g0008 | 3 | HG02965.hp1 HG03139.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.7835+62_7836-50del others(42): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | 38502772 | |||||
| chr19:38502778
|
GGCAGGGG others(29): Show |
G | 8 | a0001c0001t0001g0026a0001c0005t0001g0176a0001c0018t0001g0160others(5): Show | 8 | HG00639.hp1 HG00733.hp2 HG01255.hp2 others(5): Show |
intron_variant | MODIFIER | c.7835+68_7836-50del others(36): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | 38502778 | |||||
| chr19:38502784
|
GGCAGGGG others(23): Show |
G | 24 | a0001c0001t0001g0022a0001c0005t0001g0154a0001c0005t0001g0156others(21): Show | 24 | HG00609.hp1 HG01099.hp2 HG01109.hp1 others(21): Show |
intron_variant | MODIFIER | c.7835+74_7836-50del others(30): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | 38502784 | |||||
| chr19:38502786
|
C | CAGGGGGA others(41): Show |
1 | a0001c0035t0001g0113 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.7835+64_7835+65ins others(48): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | 38502786 | |||||
| chr19:38502786
|
C | G | 2 | a0001c0034t0001g0180a0001c0056t0001g0135 | 2 | HG02559.hp2 NA18612.hp2 |
intron_variant | MODIFIER | c.7835+59C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | chr19 | 38502786 | ||||||
| chr19:38502789
|
G | A | 1 | a0004c0084t0002g0210 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.7835+62G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | chr19 | 38502789 | ||||||
| chr19:38502790
|
GGCAGGGG others(17): Show |
G | 22 | a0001c0005t0001g0155a0001c0011t0001g0003a0001c0011t0001g0005others(19): Show | 22 | HG00438.hp1 HG01071.hp2 HG01123.hp1 others(19): Show |
intron_variant | MODIFIER | c.7836-73_7836-50del others(24): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | 38502790 | |||||
| chr19:38502792
|
C | CAGGGGCA others(41): Show |
2 | a0001c0029t0001g0074a0001c0029t0001g0083 | 2 | NA18955.hp1 NA18970.hp2 |
intron_variant | MODIFIER | c.7835+76_7836-76ins others(48): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | 38502792 | |||||
| chr19:38502792
|
C | CAGGGGG | 2 | a0005c0016t0001g0122a0005c0016t0001g0123 | 2 | HG04199.hp1 HG04204.hp2 |
intron_variant | MODIFIER | c.7835+70_7835+71ins others(6): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | 38502792 | |||||
| chr19:38502792
|
C | CAGGGGGA others(5): Show |
2 | a0006c0007t0002g0203a0030c0048t0001g0118 | 2 | HG01070.hp1 HG01891.hp1 |
intron_variant | MODIFIER | c.7835+70_7835+71ins others(12): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | 38502792 | |||||
| chr19:38502792
|
C | G | 4 | a0001c0034t0001g0180a0001c0035t0001g0113a0001c0056t0001g0135others(1): Show | 4 | HG01943.hp2 HG02559.hp2 NA18612.hp2 others(1): Show |
intron_variant | MODIFIER | c.7835+65C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | chr19 | 38502792 | ||||||
| chr19:38502795
|
G | A | 1 | a0018c0083t0002g0211 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.7835+68G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | chr19 | 38502795 | ||||||
| chr19:38502796
|
GGCAGGGG others(11): Show |
G | 10 | a0001c0023t0001g0109a0001c0027t0001g0030a0001c0028t0001g0068others(7): Show | 10 | HG01884.hp1 HG01975.hp2 HG02615.hp2 others(7): Show |
intron_variant | MODIFIER | c.7836-70_7836-53del others(18): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | 38502796 | |||||
| chr19:38502798
|
C | CAGGGGCA others(41): Show |
1 | a0001c0116t0001g0121 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.7836-71_7836-70ins others(48): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | 38502798 | |||||
| chr19:38502798
|
C | CAGGGGCA others(11): Show |
3 | a0001c0014t0001g0004a0001c0014t0001g0024a0001c0014t0001g0025 | 3 | HG01891.hp2 HG02109.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.7836-67_7836-66ins others(18): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | 38502798 | |||||
| chr19:38502798
|
C | CAGGGGCA others(17): Show |
1 | a0001c0105t0001g0089 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.7836-67_7836-66ins others(24): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | 38502798 | |||||
| chr19:38502798
|
C | CAGGGGCA others(29): Show |
1 | a0001c0022t0001g0052 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.7836-67_7836-66ins others(36): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | 38502798 | |||||
| chr19:38502798
|
C | CAGGGGGA others(5): Show |
1 | a0001c0031t0001g0159 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.7835+76_7836-76ins others(12): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | 38502798 | |||||
| chr19:38502798
|
C | G | 17 | a0001c0022t0001g0051a0001c0034t0001g0180a0001c0056t0001g0135others(14): Show | 17 | HG00639.hp2 HG00735.hp2 HG01070.hp1 others(14): Show |
intron_variant | MODIFIER | c.7835+71C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | chr19 | 38502798 | ||||||
| chr19:38502802
|
G | A | 2 | a0001c0089t0001g0046a0001c0090t0001g0017 | 2 | HG01884.hp2 NA18998.hp1 |
intron_variant | MODIFIER | c.7835+75G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | chr19 | 38502802 | ||||||
| chr19:38502802
|
G | GGCAGGGG others(11): Show |
1 | a0001c0075t0001g0165 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.7836-71_7836-70ins others(18): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | 38502802 | |||||
| chr19:38502802
|
GGCAGGGG others(5): Show |
G | 2 | a0001c0030t0001g0054a0001c0085t0001g0198 | 2 | HG02027.hp1 NA18970.hp1 |
intron_variant | MODIFIER | c.7836-70_7836-59del others(12): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | 38502802 | |||||
| chr19:38502804
|
C | CAGGGGCA others(17): Show |
1 | a0001c0019t0002g0217 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.7836-71_7836-70ins others(24): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | 38502804 | |||||
| chr19:38502804
|
C | CAGGGGCA others(11): Show |
1 | a0001c0019t0002g0218 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.7836-71_7836-70ins others(18): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | 38502804 | |||||
| chr19:38502804
|
C | CAGGGGG | 2 | a0001c0029t0001g0074a0001c0029t0001g0083 | 2 | NA18955.hp1 NA18970.hp2 |
intron_variant | MODIFIER | c.7836-72_7836-67dup others(6): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | 38502804 | |||||
| chr19:38502804
|
C | CAGGGGGA others(17): Show |
2 | a0010c0021t0001g0177a0010c0021t0001g0178 | 2 | HG03017.hp2 HG03710.hp2 |
intron_variant | MODIFIER | c.7836-67_7836-66ins others(24): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | 38502804 | |||||
| chr19:38502804
|
C | G | 20 | a0001c0022t0001g0051a0001c0031t0001g0159a0001c0034t0001g0180others(17): Show | 20 | HG00639.hp2 HG00735.hp2 HG01891.hp1 others(17): Show |
intron_variant | MODIFIER | c.7836-76C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | chr19 | 38502804 | ||||||
| chr19:38502804
|
CAGGGGG | C | 2 | a0001c0001t0001g0147a0001c0068t0002g0209 | 2 | HG01975.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.7836-72_7836-67del others(6): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | 38502804 | |||||
| chr19:38502808
|
G | A | 5 | a0001c0056t0001g0135a0003c0050t0003g0035a0003c0093t0001g0078others(2): Show | 5 | HG02148.hp2 HG02559.hp2 NA18964.hp1 others(2): Show |
intron_variant | MODIFIER | c.7836-72G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | chr19 | 38502808 | ||||||
| chr19:38502808
|
GGGAGGA | G | 9 | a0001c0001t0001g0058a0001c0001t0001g0094a0001c0028t0001g0182others(6): Show | 9 | HG00621.hp2 HG01169.hp1 HG01433.hp1 others(6): Show |
intron_variant | MODIFIER | c.7836-70_7836-65del others(6): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | 38502808 | |||||
| chr19:38502810
|
G | C | 14 | a0001c0002t0001g0087a0001c0009t0001g0199a0001c0009t0001g0200others(11): Show | 14 | HG00642.hp2 HG01981.hp1 HG02148.hp2 others(11): Show |
intron_variant | MODIFIER | c.7836-70G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | chr19 | 38502810 | ||||||
| chr19:38502811
|
A | AGGGGGGA others(59): Show |
1 | a0001c0022t0001g0051 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.7836-67_7836-66ins others(66): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | 38502811 | |||||
| chr19:38502814
|
A | G | 45 | a0001c0002t0001g0087a0001c0009t0001g0199a0001c0009t0001g0200others(42): Show | 45 | HG00639.hp2 HG00735.hp2 HG01070.hp1 others(42): Show |
intron_variant | MODIFIER | c.7836-66A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | chr19 | 38502814 | ||||||
| chr19:38502816
|
C | CAGGGGGA others(5): Show |
1 | a0022c0060t0001g0112 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.7836-59_7836-58ins others(12): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | INFO_REALIGN_3_PRIME | chr19 | 38502816 | |||||
| chr19:38502816
|
C | G | 30 | a0001c0014t0001g0004a0001c0014t0001g0024a0001c0014t0001g0025others(27): Show | 30 | HG00639.hp2 HG00735.hp2 HG01070.hp1 others(27): Show |
intron_variant | MODIFIER | c.7836-64C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | chr19 | 38502816 | ||||||
| chr19:38502822
|
C | G | 3 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0063t0001g0049 | 3 | HG00639.hp2 HG03942.hp1 NA19067.hp1 |
intron_variant | MODIFIER | c.7836-58C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | chr19 | 38502822 | ||||||
| chr19:38502844
|
G | T | 1 | a0001c0069t0001g0139 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.7836-36G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 48/105 | chr19 | 38502844 | ||||||
| chr19:38502998
|
A | G | 113 | a0001c0001t0001g0058a0001c0005t0001g0154a0001c0005t0001g0155others(110): Show | 113 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(110): Show |
intron_variant | MODIFIER | c.7926+28A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 49/105 | chr19 | 38502998 | ||||||
| chr19:38503029
|
C | T | 1 | a0001c0120t0001g0132 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.7926+59C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 49/105 | chr19 | 38503029 | ||||||
| chr19:38503131
|
C | T | 5 | a0001c0062t0001g0050a0001c0063t0001g0049a0002c0025t0001g0162others(2): Show | 5 | HG00639.hp2 HG00735.hp2 HG03669.hp2 others(2): Show |
intron_variant | MODIFIER | c.7926+161C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 49/105 | chr19 | 38503131 | ||||||
| chr19:38503410
|
TAA | T | 21 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(18): Show | 21 | HG00438.hp1 HG00621.hp2 HG00639.hp1 others(18): Show |
intron_variant | MODIFIER | c.7926+442_7926+443d others(4): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 49/105 | INFO_REALIGN_3_PRIME | chr19 | 38503410 | |||||
| chr19:38503436
|
T | C | 110 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(107): Show | 110 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(107): Show |
intron_variant | MODIFIER | c.7926+466T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 49/105 | chr19 | 38503436 | ||||||
| chr19:38503748
|
G | T | 2 | a0001c0071t0001g0186a0015c0086t0001g0019 | 2 | HG03130.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.7927-472G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 49/105 | chr19 | 38503748 | ||||||
| chr19:38503772
|
C | CA | 43 | a0001c0002t0001g0091a0001c0005t0001g0154a0001c0005t0001g0155others(40): Show | 43 | HG00609.hp1 HG00733.hp2 HG00735.hp2 others(40): Show |
intron_variant | MODIFIER | c.7927-432dupA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 49/105 | INFO_REALIGN_3_PRIME | chr19 | 38503772 | |||||
| chr19:38503772
|
C | CAA | 10 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(7): Show | 10 | HG01109.hp1 HG01884.hp1 HG02615.hp2 others(7): Show |
intron_variant | MODIFIER | c.7927-433_7927-432d others(4): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 49/105 | INFO_REALIGN_3_PRIME | chr19 | 38503772 | |||||
| chr19:38504040
|
G | T | 23 | a0001c0014t0001g0004a0001c0014t0001g0024a0001c0014t0001g0025others(20): Show | 23 | HG01070.hp1 HG01175.hp2 HG01891.hp2 others(20): Show |
intron_variant | MODIFIER | c.7927-180G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 49/105 | chr19 | 38504040 | ||||||
| chr19:38504107
|
ACCT | A | 110 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(107): Show | 110 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(107): Show |
intron_variant | MODIFIER | c.7927-109_7927-107d others(5): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 49/105 | INFO_REALIGN_3_PRIME | chr19 | 38504107 | |||||
| chr19:38504512
|
G | A | 112 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(109): Show | 112 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(109): Show |
intron_variant | MODIFIER | c.8067+152G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 50/105 | chr19 | 38504512 | ||||||
| chr19:38504593
|
A | G | 121 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(118): Show | 121 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(118): Show |
intron_variant | MODIFIER | c.8068-155A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 50/105 | chr19 | 38504593 | ||||||
| chr19:38504602
|
G | A | 3 | a0001c0002t0001g0063a0001c0002t0001g0080a0001c0002t0001g0091 | 3 | HG00609.hp2 NA18980.hp1 NA19000.hp1 |
intron_variant | MODIFIER | c.8068-146G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 50/105 | chr19 | 38504602 | ||||||
| chr19:38504713
|
C | T | 2 | a0019c0080t0001g0142a0020c0081t0001g0143 | 2 | HG02647.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.8068-35C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 50/105 | chr19 | 38504713 | ||||||
| chr19:38504715
|
ACCT | A | 112 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(109): Show | 112 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(109): Show |
intron_variant | MODIFIER | c.8068-29_8068-27del others(3): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 50/105 | INFO_REALIGN_3_PRIME | chr19 | 38504715 | |||||
| chr19:38504734
|
C | T | 4 | a0006c0007t0002g0202a0006c0007t0002g0203a0006c0007t0002g0212others(1): Show | 4 | HG01891.hp1 HG02257.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.8068-14C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 50/105 | chr19 | 38504734 | ||||||
| chr19:38505179
|
C | G | 7 | a0001c0095t0001g0190a0003c0006t0001g0045a0003c0006t0001g0057others(4): Show | 7 | HG00609.hp1 HG01934.hp1 HG02056.hp1 others(4): Show |
intron_variant | MODIFIER | c.8310+98C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 52/105 | chr19 | 38505179 | ||||||
| chr19:38505426
|
A | G | 109 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(106): Show | 109 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(106): Show |
intron_variant | MODIFIER | c.8400+28A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 53/105 | chr19 | 38505426 | ||||||
| chr19:38505459
|
C | T | 21 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(18): Show | 21 | HG01109.hp1 HG01169.hp1 HG01433.hp1 others(18): Show |
intron_variant | MODIFIER | c.8400+61C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 53/105 | chr19 | 38505459 | ||||||
| chr19:38505613
|
G | A | 7 | a0001c0013t0001g0056a0001c0013t0001g0060a0001c0013t0001g0115others(4): Show | 7 | HG00438.hp2 HG00621.hp1 HG01123.hp2 others(4): Show |
intron_variant | MODIFIER | c.8401-193G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 53/105 | chr19 | 38505613 | ||||||
| chr19:38505980
|
C | T | 109 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(106): Show | 109 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(106): Show |
intron_variant | MODIFIER | c.8541+34C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 54/105 | chr19 | 38505980 | ||||||
| chr19:38505983
|
T | G | 109 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(106): Show | 109 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(106): Show |
intron_variant | MODIFIER | c.8541+37T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 54/105 | chr19 | 38505983 | ||||||
| chr19:38506000
|
A | G | 109 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(106): Show | 109 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(106): Show |
intron_variant | MODIFIER | c.8541+54A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 54/105 | chr19 | 38506000 | ||||||
| chr19:38506007
|
G | C | 4 | a0006c0007t0002g0202a0006c0007t0002g0203a0006c0007t0002g0212others(1): Show | 4 | HG01891.hp1 HG02257.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.8541+61G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 54/105 | chr19 | 38506007 | ||||||
| chr19:38506045
|
C | G | 3 | a0008c0010t0001g0006a0008c0010t0001g0007a0008c0010t0001g0008 | 3 | HG02965.hp1 HG03139.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.8541+99C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 54/105 | chr19 | 38506045 | ||||||
| chr19:38506181
|
A | C | 109 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(106): Show | 109 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(106): Show |
intron_variant | MODIFIER | c.8542-122A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 54/105 | chr19 | 38506181 | ||||||
| chr19:38506203
|
G | A | 2 | a0001c0069t0001g0139a0007c0039t0001g0031 | 2 | HG02970.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.8542-100G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 54/105 | chr19 | 38506203 | ||||||
| chr19:38506208
|
G | A | 1 | a0002c0012t0001g0168 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.8542-95G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 54/105 | chr19 | 38506208 | ||||||
| chr19:38506231
|
C | T | 2 | a0001c0001t0001g0010a0001c0001t0001g0011 | 2 | HG03491.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.8542-72C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 54/105 | chr19 | 38506231 | ||||||
| chr19:38506420
|
G | C | 2 | a0001c0071t0001g0186a0015c0086t0001g0019 | 2 | HG03130.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.8616+43G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 55/105 | chr19 | 38506420 | ||||||
| chr19:38506436
|
C | T | 109 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(106): Show | 109 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(106): Show |
intron_variant | MODIFIER | c.8617-35C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 55/105 | chr19 | 38506436 | ||||||
| chr19:38506574
|
T | G | 109 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(106): Show | 109 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(106): Show |
intron_variant | MODIFIER | c.8692+28T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 56/105 | chr19 | 38506574 | ||||||
| chr19:38506683
|
T | C | 109 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(106): Show | 109 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(106): Show |
intron_variant | MODIFIER | c.8692+137T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 56/105 | chr19 | 38506683 | ||||||
| chr19:38506724
|
T | TTCA | 109 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(106): Show | 109 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(106): Show |
intron_variant | MODIFIER | c.8693-103_8693-102i others(5): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 56/105 | INFO_REALIGN_3_PRIME | chr19 | 38506724 | |||||
| chr19:38506752
|
G | A | 2 | a0001c0071t0001g0186a0015c0086t0001g0019 | 2 | HG03130.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.8693-77G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 56/105 | chr19 | 38506752 | ||||||
| chr19:38506819
|
G | C | 109 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(106): Show | 109 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(106): Show |
intron_variant | MODIFIER | c.8693-10G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 56/105 | chr19 | 38506819 | ||||||
| chr19:38506969
|
T | A | 109 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(106): Show | 109 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(106): Show |
intron_variant | MODIFIER | c.8816+17T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 57/105 | chr19 | 38506969 | ||||||
| chr19:38506995
|
A | C | 109 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(106): Show | 109 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(106): Show |
intron_variant | MODIFIER | c.8816+43A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 57/105 | chr19 | 38506995 | ||||||
| chr19:38507039
|
G | T | 109 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(106): Show | 109 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(106): Show |
intron_variant | MODIFIER | c.8816+87G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 57/105 | chr19 | 38507039 | ||||||
| chr19:38507069
|
ATGGAACC others(26): Show |
A | 7 | a0001c0013t0001g0056a0001c0013t0001g0060a0001c0013t0001g0115others(4): Show | 7 | HG00438.hp2 HG00621.hp1 HG01123.hp2 others(4): Show |
intron_variant | MODIFIER | c.8816+118_8816+150d others(35): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 57/105 | chr19 | 38507069 | ||||||
| chr19:38507123
|
C | A | 109 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(106): Show | 109 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(106): Show |
intron_variant | MODIFIER | c.8816+171C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 57/105 | chr19 | 38507123 | ||||||
| chr19:38507155
|
T | TAAG | 111 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(108): Show | 111 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(108): Show |
intron_variant | MODIFIER | c.8816+204_8816+206d others(5): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 57/105 | INFO_REALIGN_3_PRIME | chr19 | 38507155 | |||||
| chr19:38507171
|
CAG | C | 2 | a0001c0071t0001g0186a0015c0086t0001g0019 | 2 | HG03130.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.8816+224_8816+225d others(4): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 57/105 | INFO_REALIGN_3_PRIME | chr19 | 38507171 | |||||
| chr19:38507228
|
A | G | 29 | a0001c0014t0001g0004a0001c0014t0001g0024a0001c0014t0001g0025others(26): Show | 29 | HG01070.hp1 HG01175.hp2 HG01891.hp1 others(26): Show |
intron_variant | MODIFIER | c.8816+276A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 57/105 | chr19 | 38507228 | ||||||
| chr19:38507256
|
C | T | 109 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(106): Show | 109 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(106): Show |
intron_variant | MODIFIER | c.8816+304C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 57/105 | chr19 | 38507256 | ||||||
| chr19:38507258
|
G | T | 1 | a0023c0109t0001g0020 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.8816+306G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 57/105 | chr19 | 38507258 | ||||||
| chr19:38507339
|
G | A | 1 | a0001c0120t0001g0132 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.8817-373G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 57/105 | chr19 | 38507339 | ||||||
| chr19:38507385
|
G | T | 5 | a0001c0027t0001g0030a0001c0027t0001g0059a0001c0067t0001g0183others(2): Show | 5 | HG01169.hp1 HG01433.hp1 HG01975.hp2 others(2): Show |
intron_variant | MODIFIER | c.8817-327G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 57/105 | chr19 | 38507385 | ||||||
| chr19:38507465
|
CGGGGAAC others(43): Show |
C | 1 | a0001c0068t0002g0209 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.8817-226_8817-177d others(52): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 57/105 | INFO_REALIGN_3_PRIME | chr19 | 38507465 | |||||
| chr19:38507641
|
C | T | 1 | a0007c0038t0002g0215 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.8817-71C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 57/105 | chr19 | 38507641 | ||||||
| chr19:38507649
|
A | G | 2 | a0001c0001t0001g0088a0005c0088t0001g0053 | 2 | HG01255.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.8817-63A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 57/105 | chr19 | 38507649 | ||||||
| chr19:38507857
|
G | GC | 109 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(106): Show | 109 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(106): Show |
intron_variant | MODIFIER | c.8932+34dupC | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 58/105 | INFO_REALIGN_3_PRIME | chr19 | 38507857 | |||||
| chr19:38507916
|
C | G | 1 | a0001c0068t0002g0209 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.8932+89C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 58/105 | chr19 | 38507916 | ||||||
| chr19:38507924
|
GTCCTCCC others(4): Show |
G | 56 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(53): Show | 56 | HG00609.hp1 HG00639.hp2 HG00733.hp2 others(53): Show |
intron_variant | MODIFIER | c.8932+100_8932+110d others(13): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 58/105 | INFO_REALIGN_3_PRIME | chr19 | 38507924 | |||||
| chr19:38507988
|
G | A | 1 | a0001c0011t0001g0021 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.8932+161G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 58/105 | chr19 | 38507988 | ||||||
| chr19:38507992
|
C | T | 3 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201 | 3 | HG02735.hp2 HG03490.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.8932+165C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 58/105 | chr19 | 38507992 | ||||||
| chr19:38508123
|
A | G | 1 | a0001c0076t0001g0164 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.8932+296A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 58/105 | chr19 | 38508123 | ||||||
| chr19:38508131
|
A | G | 6 | a0001c0056t0001g0135a0001c0062t0001g0050a0001c0063t0001g0049others(3): Show | 6 | HG00639.hp2 HG00735.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.8932+304A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 58/105 | chr19 | 38508131 | ||||||
| chr19:38508166
|
A | C | 109 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(106): Show | 109 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(106): Show |
intron_variant | MODIFIER | c.8932+339A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 58/105 | chr19 | 38508166 | ||||||
| chr19:38508302
|
T | C | 109 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(106): Show | 109 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(106): Show |
intron_variant | MODIFIER | c.8932+475T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 58/105 | chr19 | 38508302 | ||||||
| chr19:38508405
|
G | A | 20 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(17): Show | 20 | HG00438.hp1 HG00621.hp2 HG00639.hp1 others(17): Show |
intron_variant | MODIFIER | c.8932+578G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 58/105 | chr19 | 38508405 | ||||||
| chr19:38508420
|
G | T | 18 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(15): Show | 18 | HG00733.hp2 HG01099.hp2 HG01123.hp1 others(15): Show |
intron_variant | MODIFIER | c.8932+593G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 58/105 | chr19 | 38508420 | ||||||
| chr19:38508580
|
A | G | 6 | a0001c0056t0001g0135a0001c0062t0001g0050a0001c0063t0001g0049others(3): Show | 6 | HG00639.hp2 HG00735.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.8932+753A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 58/105 | chr19 | 38508580 | ||||||
| chr19:38508591
|
C | A | 108 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(105): Show | 108 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(105): Show |
intron_variant | MODIFIER | c.8932+764C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 58/105 | chr19 | 38508591 | ||||||
| chr19:38508854
|
G | A | 1 | a0001c0023t0001g0109 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.8932+1027G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 58/105 | chr19 | 38508854 | ||||||
| chr19:38509019
|
C | T | 2 | a0001c0071t0001g0186a0015c0086t0001g0019 | 2 | HG03130.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.8932+1192C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 58/105 | chr19 | 38509019 | ||||||
| chr19:38509049
|
AC | A | 109 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(106): Show | 109 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(106): Show |
intron_variant | MODIFIER | c.8932+1230delC | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 58/105 | INFO_REALIGN_3_PRIME | chr19 | 38509049 | |||||
| chr19:38509446
|
TATTA | T | 10 | a0001c0018t0001g0160a0001c0018t0001g0161a0001c0052t0003g0034others(7): Show | 10 | HG00639.hp1 HG01255.hp2 HG01257.hp2 others(7): Show |
intron_variant | MODIFIER | c.8933-1051_8933-104 others(8): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 58/105 | chr19 | 38509446 | ||||||
| chr19:38509447
|
ATTAT | A | 19 | a0001c0014t0001g0004a0001c0014t0001g0024a0001c0014t0001g0025others(16): Show | 19 | HG00438.hp1 HG00621.hp2 HG01070.hp1 others(16): Show |
intron_variant | MODIFIER | c.8933-1048_8933-104 others(8): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 58/105 | INFO_REALIGN_3_PRIME | chr19 | 38509447 | |||||
| chr19:38509447
|
ATTATT | A | 12 | a0001c0023t0001g0109a0001c0055t0001g0137a0001c0062t0001g0050others(9): Show | 12 | HG00639.hp2 HG00735.hp2 HG01884.hp1 others(9): Show |
intron_variant | MODIFIER | c.8933-1048_8933-104 others(9): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 58/105 | INFO_REALIGN_3_PRIME | chr19 | 38509447 | |||||
| chr19:38509450
|
A | AT | 5 | a0001c0013t0001g0056a0001c0013t0001g0060a0001c0013t0001g0115others(2): Show | 5 | HG00438.hp2 HG00621.hp1 HG01123.hp2 others(2): Show |
intron_variant | MODIFIER | c.8933-1028dupT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 58/105 | INFO_REALIGN_3_PRIME | chr19 | 38509450 | |||||
| chr19:38509450
|
A | T | 12 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0018others(9): Show | 12 | HG00642.hp1 HG01071.hp1 HG01884.hp2 others(9): Show |
intron_variant | MODIFIER | c.8933-1048A>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 58/105 | chr19 | 38509450 | ||||||
| chr19:38509450
|
AT | A | 5 | a0001c0001t0001g0069a0001c0001t0001g0079a0001c0002t0001g0080others(2): Show | 5 | HG02523.hp1 NA18980.hp1 NA19057.hp2 others(2): Show |
intron_variant | MODIFIER | c.8933-1028delT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 58/105 | INFO_REALIGN_3_PRIME | chr19 | 38509450 | |||||
| chr19:38509450
|
ATTTT | A | 23 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(20): Show | 23 | HG01175.hp2 HG01891.hp1 HG01943.hp2 others(20): Show |
intron_variant | MODIFIER | c.8933-1031_8933-102 others(8): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 58/105 | INFO_REALIGN_3_PRIME | chr19 | 38509450 | |||||
| chr19:38509450
|
ATTTTT | A | 39 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(36): Show | 39 | HG00609.hp1 HG00733.hp2 HG01099.hp2 others(36): Show |
intron_variant | MODIFIER | c.8933-1032_8933-102 others(9): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 58/105 | INFO_REALIGN_3_PRIME | chr19 | 38509450 | |||||
| chr19:38509453
|
T | A | 22 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0067others(19): Show | 22 | HG01943.hp1 HG01978.hp2 HG02015.hp2 others(19): Show |
intron_variant | MODIFIER | c.8933-1045T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 58/105 | chr19 | 38509453 | ||||||
| chr19:38509454
|
T | A | 1 | a0001c0002t0001g0080 | 1 | NA18980.hp1 | intron_variant | MODIFIER | c.8933-1044T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 58/105 | chr19 | 38509454 | ||||||
| chr19:38509454
|
T | TA | 2 | a0019c0080t0001g0142a0020c0081t0001g0143 | 2 | HG02647.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.8933-1044_8933-104 others(5): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 58/105 | chr19 | 38509454 | ||||||
| chr19:38509455
|
T | A | 1 | a0014c0073t0001g0126 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.8933-1043T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 58/105 | chr19 | 38509455 | ||||||
| chr19:38509456
|
T | A | 1 | a0001c0091t0001g0144 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.8933-1042T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 58/105 | chr19 | 38509456 | ||||||
| chr19:38509457
|
T | A | 1 | a0001c0034t0001g0180 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.8933-1041T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 58/105 | chr19 | 38509457 | ||||||
| chr19:38509458
|
T | A | 1 | a0001c0005t0001g0176 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.8933-1040T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 58/105 | chr19 | 38509458 | ||||||
| chr19:38509484
|
G | C | 1 | a0001c0119t0001g0189 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.8933-1014G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 58/105 | chr19 | 38509484 | ||||||
| chr19:38509514
|
G | A | 5 | a0001c0027t0001g0030a0001c0027t0001g0059a0001c0067t0001g0183others(2): Show | 5 | HG01169.hp1 HG01433.hp1 HG01975.hp2 others(2): Show |
intron_variant | MODIFIER | c.8933-984G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 58/105 | chr19 | 38509514 | ||||||
| chr19:38509576
|
C | T | 109 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(106): Show | 109 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(106): Show |
intron_variant | MODIFIER | c.8933-922C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 58/105 | chr19 | 38509576 | ||||||
| chr19:38509596
|
C | T | 3 | a0001c0014t0001g0004a0001c0014t0001g0024a0001c0014t0001g0025 | 3 | HG01891.hp2 HG02109.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.8933-902C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 58/105 | chr19 | 38509596 | ||||||
| chr19:38509612
|
C | T | 11 | a0001c0020t0001g0185a0001c0020t0001g0197a0001c0059t0001g0184others(8): Show | 11 | HG00609.hp1 HG01934.hp1 HG02056.hp1 others(8): Show |
intron_variant | MODIFIER | c.8933-886C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 58/105 | chr19 | 38509612 | ||||||
| chr19:38509900
|
C | T | 109 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(106): Show | 109 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(106): Show |
intron_variant | MODIFIER | c.8933-598C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 58/105 | chr19 | 38509900 | ||||||
| chr19:38509922
|
T | C | 109 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(106): Show | 109 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(106): Show |
intron_variant | MODIFIER | c.8933-576T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 58/105 | chr19 | 38509922 | ||||||
| chr19:38509936
|
C | T | 21 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(18): Show | 21 | HG00438.hp1 HG00621.hp2 HG00639.hp1 others(18): Show |
intron_variant | MODIFIER | c.8933-562C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 58/105 | chr19 | 38509936 | ||||||
| chr19:38509946
|
G | A | 1 | a0001c0056t0001g0135 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.8933-552G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 58/105 | chr19 | 38509946 | ||||||
| chr19:38510185
|
T | A | 25 | a0001c0014t0001g0004a0001c0014t0001g0024a0001c0014t0001g0025others(22): Show | 25 | HG01070.hp1 HG01175.hp2 HG01891.hp2 others(22): Show |
intron_variant | MODIFIER | c.8933-313T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 58/105 | chr19 | 38510185 | ||||||
| chr19:38510229
|
G | A | 53 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(50): Show | 53 | HG00438.hp1 HG00621.hp2 HG00639.hp1 others(50): Show |
intron_variant | MODIFIER | c.8933-269G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 58/105 | chr19 | 38510229 | ||||||
| chr19:38510306
|
A | G | 59 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(56): Show | 59 | HG00438.hp1 HG00621.hp2 HG00639.hp1 others(56): Show |
intron_variant | MODIFIER | c.8933-192A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 58/105 | chr19 | 38510306 | ||||||
| chr19:38510931
|
C | T | 1 | a0002c0012t0001g0171 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.9122+150C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 60/105 | chr19 | 38510931 | ||||||
| chr19:38510940
|
A | G | 1 | a0028c0087t0001g0023 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.9122+159A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 60/105 | chr19 | 38510940 | ||||||
| chr19:38511064
|
G | T | 3 | a0008c0010t0001g0006a0008c0010t0001g0007a0008c0010t0001g0008 | 3 | HG02965.hp1 HG03139.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.9122+283G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 60/105 | chr19 | 38511064 | ||||||
| chr19:38511110
|
A | G | 18 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(15): Show | 18 | HG00733.hp2 HG01099.hp2 HG01123.hp1 others(15): Show |
intron_variant | MODIFIER | c.9122+329A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 60/105 | chr19 | 38511110 | ||||||
| chr19:38511201
|
C | T | 53 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(50): Show | 53 | HG00609.hp1 HG00733.hp2 HG01099.hp2 others(50): Show |
intron_variant | MODIFIER | c.9123-360C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 60/105 | chr19 | 38511201 | ||||||
| chr19:38511259
|
G | C | 21 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(18): Show | 21 | HG00438.hp1 HG00621.hp2 HG00639.hp1 others(18): Show |
intron_variant | MODIFIER | c.9123-302G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 60/105 | chr19 | 38511259 | ||||||
| chr19:38511289
|
C | T | 3 | a0008c0010t0001g0006a0008c0010t0001g0007a0008c0010t0001g0008 | 3 | HG02965.hp1 HG03139.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.9123-272C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 60/105 | chr19 | 38511289 | ||||||
| chr19:38511392
|
C | G | 2 | a0001c0013t0001g0056a0001c0013t0001g0060 | 2 | HG00438.hp2 NA19063.hp1 |
intron_variant | MODIFIER | c.9123-169C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 60/105 | chr19 | 38511392 | ||||||
| chr19:38511500
|
C | T | 35 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(32): Show | 35 | HG00609.hp1 HG01109.hp1 HG01169.hp1 others(32): Show |
intron_variant | MODIFIER | c.9123-61C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 60/105 | chr19 | 38511500 | ||||||
| chr19:38511501
|
G | T | 7 | a0001c0013t0001g0056a0001c0013t0001g0060a0001c0013t0001g0115others(4): Show | 7 | HG00438.hp2 HG00621.hp1 HG01123.hp2 others(4): Show |
intron_variant | MODIFIER | c.9123-60G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 60/105 | chr19 | 38511501 | ||||||
| chr19:38511536
|
C | T | 1 | a0007c0039t0001g0031 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.9123-25C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 60/105 | chr19 | 38511536 | ||||||
| chr19:38511918
|
C | T | 4 | a0004c0015t0001g0098a0004c0015t0001g0187a0004c0015t0001g0188others(1): Show | 4 | HG01109.hp1 HG01884.hp1 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.9173-154C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 61/105 | chr19 | 38511918 | ||||||
| chr19:38511974
|
T | G | 78 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(75): Show | 78 | HG00609.hp1 HG00733.hp2 HG01070.hp1 others(75): Show |
intron_variant | MODIFIER | c.9173-98T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 61/105 | chr19 | 38511974 | ||||||
| chr19:38512051
|
C | T | 58 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(55): Show | 58 | HG00609.hp1 HG00733.hp2 HG01099.hp2 others(55): Show |
intron_variant | MODIFIER | c.9173-21C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 61/105 | chr19 | 38512051 | ||||||
| chr19:38512513
|
C | T | 18 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(15): Show | 18 | HG00733.hp2 HG01099.hp2 HG01123.hp1 others(15): Show |
intron_variant | MODIFIER | c.9472+30C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 63/105 | chr19 | 38512513 | ||||||
| chr19:38512602
|
G | C | 1 | a0001c0090t0001g0017 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.9472+119G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 63/105 | chr19 | 38512602 | ||||||
| chr19:38512623
|
A | G | 11 | a0001c0065t0001g0131a0001c0076t0001g0164a0002c0008t0001g0163others(8): Show | 11 | HG01243.hp1 HG01433.hp2 HG02683.hp2 others(8): Show |
intron_variant | MODIFIER | c.9472+140A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 63/105 | chr19 | 38512623 | ||||||
| chr19:38512689
|
C | T | 1 | a0001c0101t0001g0041 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.9472+206C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 63/105 | chr19 | 38512689 | ||||||
| chr19:38513060
|
G | A | 1 | a0001c0005t0001g0176 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.9472+577G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 63/105 | chr19 | 38513060 | ||||||
| chr19:38513608
|
C | T | 2 | a0001c0071t0001g0186a0015c0086t0001g0019 | 2 | HG03130.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.9472+1125C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 63/105 | chr19 | 38513608 | ||||||
| chr19:38513733
|
C | T | 2 | a0001c0071t0001g0186a0015c0086t0001g0019 | 2 | HG03130.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.9472+1250C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 63/105 | chr19 | 38513733 | ||||||
| chr19:38513735
|
C | CA | 5 | a0001c0027t0001g0030a0001c0027t0001g0059a0001c0067t0001g0183others(2): Show | 5 | HG01169.hp1 HG01433.hp1 HG01975.hp2 others(2): Show |
intron_variant | MODIFIER | c.9472+1265dupA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 63/105 | INFO_REALIGN_3_PRIME | chr19 | 38513735 | |||||
| chr19:38513755
|
T | G | 7 | a0001c0013t0001g0056a0001c0013t0001g0060a0001c0013t0001g0115others(4): Show | 7 | HG00438.hp2 HG00621.hp1 HG01123.hp2 others(4): Show |
intron_variant | MODIFIER | c.9473-1271T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 63/105 | chr19 | 38513755 | ||||||
| chr19:38513839
|
T | C | 21 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(18): Show | 21 | HG00438.hp1 HG00621.hp1 HG00621.hp2 others(18): Show |
intron_variant | MODIFIER | c.9473-1187T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 63/105 | chr19 | 38513839 | ||||||
| chr19:38513971
|
C | A | 4 | a0001c0069t0001g0139a0004c0115t0004g0216a0007c0039t0001g0031others(1): Show | 4 | HG02630.hp1 HG02970.hp1 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.9473-1055C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 63/105 | chr19 | 38513971 | ||||||
| chr19:38514282
|
A | AT | 114 | a0001c0003t0002g0206a0001c0003t0002g0207a0001c0005t0001g0154others(111): Show | 114 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(111): Show |
intron_variant | MODIFIER | c.9473-728dupT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 63/105 | INFO_REALIGN_3_PRIME | chr19 | 38514282 | |||||
| chr19:38514282
|
A | ATT | 5 | a0001c0013t0001g0056a0002c0079t0001g0173a0004c0084t0002g0210others(2): Show | 5 | HG01243.hp1 HG02922.hp2 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.9473-729_9473-728d others(4): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 63/105 | INFO_REALIGN_3_PRIME | chr19 | 38514282 | |||||
| chr19:38514305
|
G | C | 2 | a0004c0015t0001g0187a0004c0015t0001g0188 | 2 | HG01884.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.9473-721G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 63/105 | chr19 | 38514305 | ||||||
| chr19:38514354
|
C | CAG | 2 | a0001c0071t0001g0186a0015c0086t0001g0019 | 2 | HG03130.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.9473-671_9473-670i others(4): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 63/105 | INFO_REALIGN_3_PRIME | chr19 | 38514354 | |||||
| chr19:38514385
|
A | T | 4 | a0006c0007t0002g0202a0006c0007t0002g0203a0006c0007t0002g0212others(1): Show | 4 | HG01891.hp1 HG02257.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.9473-641A>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 63/105 | chr19 | 38514385 | ||||||
| chr19:38514465
|
G | A | 1 | a0001c0035t0001g0113 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.9473-561G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 63/105 | chr19 | 38514465 | ||||||
| chr19:38514501
|
G | A | 5 | a0001c0001t0001g0069a0001c0001t0001g0079a0001c0001t0001g0093others(2): Show | 5 | HG01106.hp1 HG02523.hp1 HG04228.hp1 others(2): Show |
intron_variant | MODIFIER | c.9473-525G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 63/105 | chr19 | 38514501 | ||||||
| chr19:38514614
|
A | G | 9 | a0001c0013t0001g0056a0001c0013t0001g0060a0001c0013t0001g0115others(6): Show | 9 | HG00438.hp2 HG00621.hp1 HG01123.hp2 others(6): Show |
intron_variant | MODIFIER | c.9473-412A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 63/105 | chr19 | 38514614 | ||||||
| chr19:38514890
|
G | C | 1 | a0001c0056t0001g0135 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.9473-136G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 63/105 | chr19 | 38514890 | ||||||
| chr19:38514899
|
A | G | 3 | a0008c0010t0001g0006a0008c0010t0001g0007a0008c0010t0001g0008 | 3 | HG02965.hp1 HG03139.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.9473-127A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 63/105 | chr19 | 38514899 | ||||||
| chr19:38514922
|
C | T | 6 | a0001c0013t0001g0060a0001c0013t0001g0115a0001c0066t0001g0092others(3): Show | 6 | HG00438.hp2 HG00621.hp1 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.9473-104C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 63/105 | chr19 | 38514922 | ||||||
| chr19:38515203
|
T | A | 1 | a0023c0109t0001g0020 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.9554+96T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 64/105 | chr19 | 38515203 | ||||||
| chr19:38515208
|
A | G | 1 | a0001c0001t0001g0094 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.9554+101A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 64/105 | chr19 | 38515208 | ||||||
| chr19:38515244
|
C | G | 1 | a0020c0081t0001g0143 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.9554+137C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 64/105 | chr19 | 38515244 | ||||||
| chr19:38515252
|
C | A | 1 | a0017c0041t0001g0117 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.9554+145C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 64/105 | chr19 | 38515252 | ||||||
| chr19:38515297
|
G | T | 39 | a0001c0001t0001g0075a0001c0001t0001g0088a0001c0002t0001g0081others(36): Show | 39 | HG00735.hp1 HG00735.hp2 HG01109.hp1 others(36): Show |
intron_variant | MODIFIER | c.9554+190G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 64/105 | chr19 | 38515297 | ||||||
| chr19:38515493
|
G | A | 4 | a0008c0010t0001g0006a0008c0010t0001g0007a0008c0010t0001g0008others(1): Show | 4 | HG02965.hp1 HG03139.hp1 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.9554+386G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 64/105 | chr19 | 38515493 | ||||||
| chr19:38515496
|
A | G | 8 | a0001c0003t0002g0206a0001c0003t0002g0207a0001c0027t0001g0030others(5): Show | 8 | HG01433.hp1 HG01975.hp2 HG01981.hp1 others(5): Show |
intron_variant | MODIFIER | c.9554+389A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 64/105 | chr19 | 38515496 | ||||||
| chr19:38515629
|
A | C | 27 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(24): Show | 27 | HG00735.hp2 HG01070.hp1 HG01109.hp1 others(24): Show |
intron_variant | MODIFIER | c.9555-458A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 64/105 | chr19 | 38515629 | ||||||
| chr19:38515640
|
T | A | 15 | a0001c0067t0001g0183a0003c0006t0001g0045a0003c0006t0001g0057others(12): Show | 15 | HG00609.hp1 HG01071.hp2 HG01169.hp1 others(12): Show |
intron_variant | MODIFIER | c.9555-447T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 64/105 | chr19 | 38515640 | ||||||
| chr19:38515743
|
A | G | 28 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(25): Show | 28 | HG00735.hp2 HG01070.hp1 HG01109.hp1 others(25): Show |
intron_variant | MODIFIER | c.9555-344A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 64/105 | chr19 | 38515743 | ||||||
| chr19:38515785
|
T | A | 1 | a0001c0022t0001g0051 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.9555-302T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 64/105 | chr19 | 38515785 | ||||||
| chr19:38515785
|
TA | T | 3 | a0004c0015t0001g0098a0004c0015t0001g0187a0004c0015t0001g0188 | 3 | HG01884.hp1 HG02615.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.9555-298delA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 64/105 | INFO_REALIGN_3_PRIME | chr19 | 38515785 | |||||
| chr19:38516074
|
C | T | 8 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(5): Show | 8 | HG02647.hp2 HG02897.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.9555-13C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 64/105 | chr19 | 38516074 | ||||||
| chr19:38516450
|
T | C | 13 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(10): Show | 13 | HG02559.hp2 HG02647.hp2 HG02897.hp2 others(10): Show |
intron_variant | MODIFIER | c.9685+233T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 65/105 | chr19 | 38516450 | ||||||
| chr19:38516570
|
A | C | 7 | a0001c0062t0001g0050a0001c0067t0001g0183a0002c0025t0001g0162others(4): Show | 7 | HG00735.hp2 HG01109.hp1 HG01169.hp1 others(4): Show |
intron_variant | MODIFIER | c.9685+353A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 65/105 | chr19 | 38516570 | ||||||
| chr19:38516765
|
G | A | 2 | a0001c0071t0001g0186a0015c0086t0001g0019 | 2 | HG03130.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.9685+548G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 65/105 | chr19 | 38516765 | ||||||
| chr19:38516870
|
T | C | 8 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(5): Show | 8 | HG02647.hp2 HG02897.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.9686-489T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 65/105 | chr19 | 38516870 | ||||||
| chr19:38517158
|
G | A | 1 | a0018c0083t0002g0211 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.9686-201G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 65/105 | chr19 | 38517158 | ||||||
| chr19:38517213
|
G | A | 27 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(24): Show | 27 | HG00735.hp2 HG01070.hp1 HG01109.hp1 others(24): Show |
intron_variant | MODIFIER | c.9686-146G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 65/105 | chr19 | 38517213 | ||||||
| chr19:38517247
|
T | C | 1 | a0001c0075t0001g0165 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.9686-112T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 65/105 | chr19 | 38517247 | ||||||
| chr19:38517858
|
G | A | 58 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(55): Show | 58 | HG00639.hp1 HG00735.hp2 HG01070.hp1 others(55): Show |
intron_variant | MODIFIER | c.10018+167G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 66/105 | chr19 | 38517858 | ||||||
| chr19:38518136
|
C | T | 2 | a0001c0068t0002g0209a0001c0119t0001g0189 | 2 | HG00642.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.10018+445C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 66/105 | chr19 | 38518136 | ||||||
| chr19:38518209
|
CAGGA | C | 2 | a0001c0027t0001g0030a0001c0027t0001g0059 | 2 | HG01975.hp2 HG01981.hp1 |
intron_variant | MODIFIER | c.10018+533_10018+53 others(8): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 66/105 | INFO_REALIGN_3_PRIME | chr19 | 38518209 | |||||
| chr19:38518295
|
C | T | 3 | a0004c0015t0001g0098a0004c0015t0001g0187a0004c0015t0001g0188 | 3 | HG01884.hp1 HG02615.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.10018+604C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 66/105 | chr19 | 38518295 | ||||||
| chr19:38518389
|
G | A | 1 | a0001c0019t0002g0217 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.10018+698G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 66/105 | chr19 | 38518389 | ||||||
| chr19:38518401
|
TA | T | 54 | a0001c0001t0001g0014a0001c0001t0001g0039a0001c0001t0001g0040others(51): Show | 54 | HG00609.hp1 HG00639.hp1 HG00642.hp2 others(51): Show |
intron_variant | MODIFIER | c.10018+732delA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 66/105 | INFO_REALIGN_3_PRIME | chr19 | 38518401 | |||||
| chr19:38518401
|
TAA | T | 7 | a0001c0009t0001g0201a0001c0011t0001g0005a0001c0018t0001g0160others(4): Show | 7 | HG01257.hp2 HG01884.hp1 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.10018+731_10018+73 others(6): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 66/105 | INFO_REALIGN_3_PRIME | chr19 | 38518401 | |||||
| chr19:38518401
|
TAAAAAAA others(1): Show |
T | 27 | a0001c0019t0002g0217a0001c0022t0001g0051a0001c0022t0001g0052others(24): Show | 27 | HG00735.hp2 HG01070.hp1 HG01099.hp2 others(24): Show |
intron_variant | MODIFIER | c.10018+725_10018+73 others(12): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 66/105 | INFO_REALIGN_3_PRIME | chr19 | 38518401 | |||||
| chr19:38518403
|
A | T | 6 | a0001c0018t0001g0161a0001c0069t0001g0139a0001c0101t0001g0041others(3): Show | 6 | HG00639.hp1 HG01255.hp2 HG01258.hp2 others(3): Show |
intron_variant | MODIFIER | c.10018+712A>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 66/105 | chr19 | 38518403 | ||||||
| chr19:38518404
|
A | T | 1 | a0001c0018t0001g0160 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.10018+713A>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 66/105 | chr19 | 38518404 | ||||||
| chr19:38518945
|
T | G | 28 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(25): Show | 28 | HG00735.hp2 HG01070.hp1 HG01109.hp1 others(25): Show |
intron_variant | MODIFIER | c.10019-269T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 66/105 | chr19 | 38518945 | ||||||
| chr19:38518961
|
C | T | 27 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(24): Show | 27 | HG00639.hp2 HG01070.hp2 HG01071.hp1 others(24): Show |
intron_variant | MODIFIER | c.10019-253C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 66/105 | chr19 | 38518961 | ||||||
| chr19:38519011
|
C | T | 30 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(27): Show | 30 | HG00639.hp1 HG01255.hp2 HG01257.hp2 others(27): Show |
intron_variant | MODIFIER | c.10019-203C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 66/105 | chr19 | 38519011 | ||||||
| chr19:38519052
|
G | A | 1 | a0001c0044t0001g0048 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.10019-162G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 66/105 | chr19 | 38519052 | ||||||
| chr19:38519150
|
G | A | 1 | a0007c0039t0001g0031 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.10019-64G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 66/105 | chr19 | 38519150 | ||||||
| chr19:38519464
|
G | A | 1 | a0001c0099t0001g0192 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.10259+10G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | chr19 | 38519464 | ||||||
| chr19:38519670
|
G | GT | 6 | a0001c0002t0001g0194a0002c0078t0001g0130a0002c0079t0001g0173others(3): Show | 6 | HG01243.hp1 HG01884.hp1 HG02056.hp2 others(3): Show |
intron_variant | MODIFIER | c.10259+225dupT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | INFO_REALIGN_3_PRIME | chr19 | 38519670 | |||||
| chr19:38519671
|
T | G | 54 | a0001c0003t0002g0206a0001c0003t0002g0207a0001c0009t0001g0199others(51): Show | 54 | HG00639.hp1 HG01070.hp1 HG01169.hp1 others(51): Show |
intron_variant | MODIFIER | c.10259+217T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | chr19 | 38519671 | ||||||
| chr19:38519959
|
G | A | 4 | a0006c0007t0002g0202a0006c0007t0002g0203a0006c0007t0002g0212others(1): Show | 4 | HG01891.hp1 HG02257.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.10259+505G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | chr19 | 38519959 | ||||||
| chr19:38519991
|
T | A | 28 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(25): Show | 28 | HG00735.hp2 HG01070.hp1 HG01109.hp1 others(25): Show |
intron_variant | MODIFIER | c.10259+537T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | chr19 | 38519991 | ||||||
| chr19:38520056
|
G | A | 2 | a0001c0029t0001g0074a0001c0029t0001g0083 | 2 | NA18955.hp1 NA18970.hp2 |
intron_variant | MODIFIER | c.10259+602G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | chr19 | 38520056 | ||||||
| chr19:38520071
|
C | CT | 13 | a0001c0003t0002g0206a0001c0003t0002g0207a0001c0054t0001g0136others(10): Show | 13 | HG01433.hp2 HG02559.hp2 HG02615.hp1 others(10): Show |
intron_variant | MODIFIER | c.10259+636dupT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | INFO_REALIGN_3_PRIME | chr19 | 38520071 | |||||
| chr19:38520071
|
C | CTT | 12 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(9): Show | 12 | HG01884.hp1 HG02647.hp2 HG02897.hp2 others(9): Show |
intron_variant | MODIFIER | c.10259+635_10259+63 others(6): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | INFO_REALIGN_3_PRIME | chr19 | 38520071 | |||||
| chr19:38520331
|
G | A | 1 | a0001c0070t0001g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.10259+877G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | chr19 | 38520331 | ||||||
| chr19:38520367
|
C | CT | 47 | a0001c0003t0002g0206a0001c0003t0002g0207a0001c0009t0001g0199others(44): Show | 47 | HG00639.hp1 HG00735.hp2 HG01070.hp1 others(44): Show |
intron_variant | MODIFIER | c.10259+928dupT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | INFO_REALIGN_3_PRIME | chr19 | 38520367 | |||||
| chr19:38520367
|
CT | C | 12 | a0001c0001t0001g0069a0001c0001t0001g0093a0001c0003t0001g0107others(9): Show | 12 | HG00438.hp2 HG00621.hp1 HG01123.hp2 others(9): Show |
intron_variant | MODIFIER | c.10259+928delT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | INFO_REALIGN_3_PRIME | chr19 | 38520367 | |||||
| chr19:38520501
|
C | G | 4 | a0001c0062t0001g0050a0002c0025t0001g0162a0002c0025t0001g0170others(1): Show | 4 | HG00735.hp2 HG03669.hp2 HG03834.hp1 others(1): Show |
intron_variant | MODIFIER | c.10259+1047C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | chr19 | 38520501 | ||||||
| chr19:38520693
|
C | CA | 19 | a0001c0001t0001g0070a0001c0001t0001g0077a0001c0001t0001g0079others(16): Show | 19 | HG00438.hp1 HG00621.hp2 HG00735.hp2 others(16): Show |
intron_variant | MODIFIER | c.10259+1265dupA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | INFO_REALIGN_3_PRIME | chr19 | 38520693 | |||||
| chr19:38520693
|
C | CAA | 10 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(7): Show | 10 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(7): Show |
intron_variant | MODIFIER | c.10259+1264_10259+1 others(8): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | INFO_REALIGN_3_PRIME | chr19 | 38520693 | |||||
| chr19:38520693
|
C | CAAA | 6 | a0001c0069t0001g0139a0003c0064t0001g0181a0004c0115t0004g0216others(3): Show | 6 | HG02630.hp1 HG02970.hp1 HG03471.hp1 others(3): Show |
intron_variant | MODIFIER | c.10259+1263_10259+1 others(9): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | INFO_REALIGN_3_PRIME | chr19 | 38520693 | |||||
| chr19:38520693
|
C | CAAAAAAA others(5): Show |
1 | a0018c0083t0002g0211 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.10259+1254_10259+1 others(18): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | INFO_REALIGN_3_PRIME | chr19 | 38520693 | |||||
| chr19:38520693
|
C | CAAAAAAA others(8): Show |
1 | a0030c0048t0001g0118 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.10259+1251_10259+1 others(21): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | INFO_REALIGN_3_PRIME | chr19 | 38520693 | |||||
| chr19:38520693
|
C | CAAAAAAA others(9): Show |
6 | a0001c0022t0001g0051a0001c0029t0001g0083a0001c0034t0001g0180others(3): Show | 6 | HG01243.hp2 HG02015.hp1 NA18612.hp2 others(3): Show |
intron_variant | MODIFIER | c.10259+1250_10259+1 others(22): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | INFO_REALIGN_3_PRIME | chr19 | 38520693 | |||||
| chr19:38520693
|
C | CAAAAAAA others(10): Show |
6 | a0001c0019t0002g0217a0001c0022t0001g0052a0001c0029t0001g0074others(3): Show | 6 | HG03942.hp1 HG04199.hp1 HG04204.hp2 others(3): Show |
intron_variant | MODIFIER | c.10259+1249_10259+1 others(23): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | INFO_REALIGN_3_PRIME | chr19 | 38520693 | |||||
| chr19:38520693
|
C | CAAAAAAA others(11): Show |
1 | a0002c0025t0001g0170 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.10259+1248_10259+1 others(24): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | INFO_REALIGN_3_PRIME | chr19 | 38520693 | |||||
| chr19:38520693
|
C | CAAAAAAA others(12): Show |
1 | a0002c0025t0001g0162 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.10259+1247_10259+1 others(25): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | INFO_REALIGN_3_PRIME | chr19 | 38520693 | |||||
| chr19:38520693
|
C | CAAAAAAA others(13): Show |
1 | a0005c0107t0001g0042 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.10259+1246_10259+1 others(26): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | INFO_REALIGN_3_PRIME | chr19 | 38520693 | |||||
| chr19:38520693
|
C | CAAAAAAA others(14): Show |
1 | a0007c0038t0002g0215 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.10259+1245_10259+1 others(27): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | INFO_REALIGN_3_PRIME | chr19 | 38520693 | |||||
| chr19:38520693
|
C | CAAAAAAA others(17): Show |
2 | a0006c0007t0002g0212a0006c0007t0002g0213 | 2 | HG02257.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.10259+1242_10259+1 others(30): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | INFO_REALIGN_3_PRIME | chr19 | 38520693 | |||||
| chr19:38520693
|
C | CAAAAAAA others(18): Show |
1 | a0006c0007t0002g0203 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.10259+1241_10259+1 others(31): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | INFO_REALIGN_3_PRIME | chr19 | 38520693 | |||||
| chr19:38520693
|
C | CAAAAAAA others(19): Show |
1 | a0006c0007t0002g0202 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.10259+1240_10259+1 others(32): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | INFO_REALIGN_3_PRIME | chr19 | 38520693 | |||||
| chr19:38520693
|
C | CAAAAAAA others(22): Show |
1 | a0001c0019t0002g0218 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.10259+1265_10259+1 others(35): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | INFO_REALIGN_3_PRIME | chr19 | 38520693 | |||||
| chr19:38520693
|
CA | C | 9 | a0001c0001t0001g0018a0001c0001t0001g0022a0001c0001t0001g0145others(6): Show | 9 | HG01884.hp1 HG01943.hp1 HG02015.hp2 others(6): Show |
intron_variant | MODIFIER | c.10259+1265delA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | INFO_REALIGN_3_PRIME | chr19 | 38520693 | |||||
| chr19:38520693
|
CAAAA | C | 14 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(11): Show | 14 | HG00639.hp1 HG00642.hp2 HG01255.hp2 others(11): Show |
intron_variant | MODIFIER | c.10259+1262_10259+1 others(10): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | INFO_REALIGN_3_PRIME | chr19 | 38520693 | |||||
| chr19:38520693
|
CAAAAAAA others(6): Show |
C | 13 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(10): Show | 13 | HG02559.hp2 HG02647.hp2 HG02897.hp2 others(10): Show |
intron_variant | MODIFIER | c.10259+1253_10259+1 others(19): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | INFO_REALIGN_3_PRIME | chr19 | 38520693 | |||||
| chr19:38520878
|
A | G | 3 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201 | 3 | HG02735.hp2 HG03490.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.10259+1424A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | chr19 | 38520878 | ||||||
| chr19:38521010
|
T | A | 2 | a0001c0001t0001g0014a0001c0004t0001g0119 | 2 | HG01257.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.10259+1556T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | chr19 | 38521010 | ||||||
| chr19:38521266
|
C | A | 15 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(12): Show | 15 | HG02559.hp2 HG02622.hp1 HG02647.hp2 others(12): Show |
intron_variant | MODIFIER | c.10260-1762C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | chr19 | 38521266 | ||||||
| chr19:38521416
|
G | A | 31 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(28): Show | 31 | HG00639.hp1 HG01169.hp1 HG01255.hp2 others(28): Show |
intron_variant | MODIFIER | c.10260-1612G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | chr19 | 38521416 | ||||||
| chr19:38521672
|
G | A | 31 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(28): Show | 31 | HG00639.hp1 HG01169.hp1 HG01255.hp2 others(28): Show |
intron_variant | MODIFIER | c.10260-1356G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | chr19 | 38521672 | ||||||
| chr19:38521707
|
A | G | 4 | a0006c0007t0002g0202a0006c0007t0002g0203a0006c0007t0002g0212others(1): Show | 4 | HG01891.hp1 HG02257.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.10260-1321A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | chr19 | 38521707 | ||||||
| chr19:38521716
|
T | A | 31 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(28): Show | 31 | HG00735.hp2 HG01070.hp1 HG01109.hp1 others(28): Show |
intron_variant | MODIFIER | c.10260-1312T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | chr19 | 38521716 | ||||||
| chr19:38521717
|
T | A | 28 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(25): Show | 28 | HG00735.hp2 HG01070.hp1 HG01109.hp1 others(25): Show |
intron_variant | MODIFIER | c.10260-1311T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | chr19 | 38521717 | ||||||
| chr19:38521718
|
T | A | 1 | a0002c0025t0001g0170 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.10260-1310T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | chr19 | 38521718 | ||||||
| chr19:38521768
|
G | A | 1 | a0001c0091t0001g0144 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.10260-1260G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | chr19 | 38521768 | ||||||
| chr19:38521909
|
C | T | 2 | a0001c0017t0001g0102a0001c0017t0001g0129 | 2 | NA19067.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.10260-1119C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | chr19 | 38521909 | ||||||
| chr19:38521943
|
C | T | 3 | a0001c0069t0001g0139a0007c0039t0001g0031a0009c0104t0001g0013 | 3 | HG01106.hp1 HG02970.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.10260-1085C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | chr19 | 38521943 | ||||||
| chr19:38521955
|
G | A | 1 | a0001c0110t0001g0157 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.10260-1073G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | chr19 | 38521955 | ||||||
| chr19:38522072
|
G | A | 3 | a0004c0015t0001g0098a0004c0015t0001g0187a0004c0015t0001g0188 | 3 | HG01884.hp1 HG02615.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.10260-956G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | chr19 | 38522072 | ||||||
| chr19:38522178
|
T | C | 4 | a0006c0007t0002g0202a0006c0007t0002g0203a0006c0007t0002g0212others(1): Show | 4 | HG01891.hp1 HG02257.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.10260-850T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | chr19 | 38522178 | ||||||
| chr19:38522208
|
G | A | 1 | a0001c0056t0001g0135 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.10260-820G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | chr19 | 38522208 | ||||||
| chr19:38522427
|
C | A | 1 | a0007c0039t0001g0031 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.10260-601C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | chr19 | 38522427 | ||||||
| chr19:38522455
|
C | A | 61 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(58): Show | 61 | HG00639.hp1 HG00735.hp2 HG01070.hp1 others(58): Show |
intron_variant | MODIFIER | c.10260-573C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | chr19 | 38522455 | ||||||
| chr19:38522620
|
AAGAGAG | A | 3 | a0004c0015t0001g0098a0004c0015t0001g0187a0004c0015t0001g0188 | 3 | HG01884.hp1 HG02615.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.10260-394_10260-38 others(10): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | INFO_REALIGN_3_PRIME | chr19 | 38522620 | |||||
| chr19:38522685
|
T | C | 88 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(85): Show | 88 | HG00438.hp2 HG00609.hp1 HG00621.hp1 others(85): Show |
intron_variant | MODIFIER | c.10260-343T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | chr19 | 38522685 | ||||||
| chr19:38522744
|
G | GTTCAAGA others(1): Show |
2 | a0001c0003t0002g0206a0001c0003t0002g0207 | 2 | HG02615.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.10260-283_10260-27 others(12): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | INFO_REALIGN_3_PRIME | chr19 | 38522744 | |||||
| chr19:38522814
|
G | C | 28 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(25): Show | 28 | HG00735.hp2 HG01070.hp1 HG01109.hp1 others(25): Show |
intron_variant | MODIFIER | c.10260-214G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | chr19 | 38522814 | ||||||
| chr19:38522859
|
GAAAA | G | 28 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(25): Show | 28 | HG00735.hp2 HG01070.hp1 HG01109.hp1 others(25): Show |
intron_variant | MODIFIER | c.10260-164_10260-16 others(8): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 67/105 | INFO_REALIGN_3_PRIME | chr19 | 38522859 | |||||
| chr19:38523330
|
G | C | 1 | a0001c0001t0001g0058 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.10440+21G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 69/105 | chr19 | 38523330 | ||||||
| chr19:38523472
|
G | GCTCCTTC others(69): Show |
1 | a0002c0053t0001g0106 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.10440+200_10440+27 others(80): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 69/105 | INFO_REALIGN_3_PRIME | chr19 | 38523472 | |||||
| chr19:38523544
|
T | C | 88 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(85): Show | 88 | HG00438.hp2 HG00609.hp1 HG00621.hp1 others(85): Show |
intron_variant | MODIFIER | c.10440+235T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 69/105 | chr19 | 38523544 | ||||||
| chr19:38523825
|
G | A | 1 | a0018c0083t0002g0211 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.10441-90G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 69/105 | chr19 | 38523825 | ||||||
| chr19:38523866
|
C | T | 3 | a0001c0070t0001g0002a0018c0083t0002g0211a0028c0087t0001g0023 | 3 | HG02622.hp1 HG03130.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.10441-49C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 69/105 | chr19 | 38523866 | ||||||
| chr19:38524002
|
C | T | 31 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(28): Show | 31 | HG00639.hp1 HG01169.hp1 HG01255.hp2 others(28): Show |
intron_variant | MODIFIER | c.10455+73C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 70/105 | chr19 | 38524002 | ||||||
| chr19:38524186
|
C | CA | 18 | a0001c0001t0001g0067a0001c0001t0001g0070a0001c0002t0001g0091others(15): Show | 18 | HG00735.hp2 HG01109.hp1 HG01169.hp1 others(15): Show |
intron_variant | MODIFIER | c.10455+274dupA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 70/105 | INFO_REALIGN_3_PRIME | chr19 | 38524186 | |||||
| chr19:38524191
|
A | C | 1 | a0001c0001t0001g0147 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.10455+262A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 70/105 | chr19 | 38524191 | ||||||
| chr19:38524267
|
G | C | 7 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(4): Show | 7 | HG00639.hp1 HG01255.hp2 HG01257.hp2 others(4): Show |
intron_variant | MODIFIER | c.10455+338G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 70/105 | chr19 | 38524267 | ||||||
| chr19:38524318
|
G | GC | 217 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(214): Show | 217 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(214): Show |
intron_variant | MODIFIER | c.10455+389_10455+39 others(5): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 70/105 | chr19 | 38524318 | ||||||
| chr19:38524320
|
A | G | 217 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(214): Show | 217 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(214): Show |
intron_variant | MODIFIER | c.10455+391A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 70/105 | chr19 | 38524320 | ||||||
| chr19:38524400
|
G | A | 3 | a0001c0028t0001g0068a0001c0089t0001g0046a0001c0118t0001g0134 | 3 | NA18998.hp1 NA19010.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.10455+471G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 70/105 | chr19 | 38524400 | ||||||
| chr19:38524534
|
C | T | 29 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(26): Show | 29 | HG00735.hp2 HG01070.hp1 HG01109.hp1 others(26): Show |
intron_variant | MODIFIER | c.10455+605C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 70/105 | chr19 | 38524534 | ||||||
| chr19:38524657
|
G | A | 15 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(12): Show | 15 | HG02559.hp2 HG02622.hp1 HG02647.hp2 others(12): Show |
intron_variant | MODIFIER | c.10456-675G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 70/105 | chr19 | 38524657 | ||||||
| chr19:38524814
|
T | C | 46 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(43): Show | 46 | HG00609.hp1 HG00642.hp2 HG00735.hp2 others(43): Show |
intron_variant | MODIFIER | c.10456-518T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 70/105 | chr19 | 38524814 | ||||||
| chr19:38525278
|
G | T | 1 | a0004c0047t0002g0205 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.10456-54G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 70/105 | chr19 | 38525278 | ||||||
| chr19:38525279
|
G | A | 1 | a0004c0047t0002g0205 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.10456-53G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 70/105 | chr19 | 38525279 | ||||||
| chr19:38525809
|
GACCATGC others(10): Show |
G | 1 | a0003c0051t0003g0036 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.10626+308_10626+32 others(21): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 71/105 | chr19 | 38525809 | ||||||
| chr19:38525934
|
C | T | 17 | a0001c0027t0001g0030a0001c0027t0001g0059a0001c0068t0002g0209others(14): Show | 17 | HG00609.hp1 HG00642.hp2 HG01071.hp2 others(14): Show |
intron_variant | MODIFIER | c.10626+432C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 71/105 | chr19 | 38525934 | ||||||
| chr19:38525980
|
T | C | 87 | a0001c0002t0001g0141a0001c0009t0001g0199a0001c0009t0001g0200others(84): Show | 87 | HG00438.hp2 HG00609.hp1 HG00621.hp1 others(84): Show |
intron_variant | MODIFIER | c.10626+478T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 71/105 | chr19 | 38525980 | ||||||
| chr19:38526007
|
C | G | 3 | a0004c0015t0001g0098a0004c0015t0001g0187a0004c0015t0001g0188 | 3 | HG01884.hp1 HG02615.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.10626+505C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 71/105 | chr19 | 38526007 | ||||||
| chr19:38526170
|
C | T | 2 | a0003c0006t0001g0057a0003c0006t0001g0114 | 2 | HG01934.hp1 HG02148.hp1 |
intron_variant | MODIFIER | c.10626+668C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 71/105 | chr19 | 38526170 | ||||||
| chr19:38526191
|
C | T | 2 | a0004c0047t0002g0205a0016c0106t0001g0099 | 2 | HG03139.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.10626+689C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 71/105 | chr19 | 38526191 | ||||||
| chr19:38526271
|
G | A | 1 | a0025c0097t0001g0084 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.10627-722G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 71/105 | chr19 | 38526271 | ||||||
| chr19:38526397
|
C | A | 2 | a0001c0001t0001g0015a0001c0001t0001g0016 | 2 | HG02622.hp2 HG02723.hp2 |
intron_variant | MODIFIER | c.10627-596C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 71/105 | chr19 | 38526397 | ||||||
| chr19:38526482
|
G | A | 1 | a0018c0083t0002g0211 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.10627-511G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 71/105 | chr19 | 38526482 | ||||||
| chr19:38526557
|
A | C | 31 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(28): Show | 31 | HG00438.hp1 HG00621.hp2 HG00733.hp2 others(28): Show |
intron_variant | MODIFIER | c.10627-436A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 71/105 | chr19 | 38526557 | ||||||
| chr19:38526557
|
A | G | 4 | a0001c0056t0001g0135a0008c0010t0001g0006a0008c0010t0001g0007others(1): Show | 4 | HG02559.hp2 HG02965.hp1 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.10627-436A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 71/105 | chr19 | 38526557 | ||||||
| chr19:38526738
|
T | C | 87 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(84): Show | 87 | HG00438.hp2 HG00609.hp1 HG00621.hp1 others(84): Show |
intron_variant | MODIFIER | c.10627-255T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 71/105 | chr19 | 38526738 | ||||||
| chr19:38527409
|
C | T | 1 | a0001c0069t0001g0139 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.10687-238C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 72/105 | chr19 | 38527409 | ||||||
| chr19:38527509
|
C | T | 1 | a0032c0074t0001g0032 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.10687-138C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 72/105 | chr19 | 38527509 | ||||||
| chr19:38527521
|
A | G | 8 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(5): Show | 8 | HG00639.hp1 HG01255.hp2 HG01257.hp2 others(5): Show |
intron_variant | MODIFIER | c.10687-126A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 72/105 | chr19 | 38527521 | ||||||
| chr19:38527591
|
G | A | 1 | a0001c0089t0001g0046 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.10687-56G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 72/105 | chr19 | 38527591 | ||||||
| chr19:38527637
|
C | T | 22 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(19): Show | 22 | HG01070.hp1 HG01175.hp2 HG01243.hp2 others(19): Show |
intron_variant | MODIFIER | c.10687-10C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 72/105 | chr19 | 38527637 | ||||||
| chr19:38527640
|
C | T | 31 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(28): Show | 31 | HG00639.hp1 HG01255.hp2 HG01257.hp2 others(28): Show |
splice_region_variant&intron_variant | LOW | c.10687-7C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 72/105 | chr19 | 38527640 | ||||||
| chr19:38527910
|
G | C | 1 | a0001c0002t0001g0194 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.10824+126G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 73/105 | chr19 | 38527910 | ||||||
| chr19:38527942
|
C | CA | 29 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(26): Show | 29 | HG00735.hp2 HG01070.hp1 HG01109.hp1 others(26): Show |
intron_variant | MODIFIER | c.10824+158_10824+15 others(5): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 73/105 | chr19 | 38527942 | ||||||
| chr19:38528088
|
C | G | 60 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(57): Show | 60 | HG00639.hp1 HG00735.hp2 HG01070.hp1 others(57): Show |
intron_variant | MODIFIER | c.10825-218C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 73/105 | chr19 | 38528088 | ||||||
| chr19:38528201
|
C | T | 4 | a0006c0007t0002g0202a0006c0007t0002g0203a0006c0007t0002g0212others(1): Show | 4 | HG01891.hp1 HG02257.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.10825-105C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 73/105 | chr19 | 38528201 | ||||||
| chr19:38528261
|
G | A | 1 | a0001c0075t0001g0165 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.10825-45G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 73/105 | chr19 | 38528261 | ||||||
| chr19:38528457
|
G | A | 8 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(5): Show | 8 | HG02647.hp2 HG02897.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.10937+39G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 74/105 | chr19 | 38528457 | ||||||
| chr19:38528513
|
A | G | 45 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(42): Show | 45 | HG00609.hp1 HG00642.hp2 HG00735.hp2 others(42): Show |
intron_variant | MODIFIER | c.10938-86A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 74/105 | chr19 | 38528513 | ||||||
| chr19:38528715
|
G | T | 3 | a0008c0010t0001g0006a0008c0010t0001g0007a0008c0010t0001g0008 | 3 | HG02965.hp1 HG03139.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.11034+20G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 75/105 | chr19 | 38528715 | ||||||
| chr19:38528924
|
C | T | 1 | a0001c0110t0001g0157 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.11035-27C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 75/105 | chr19 | 38528924 | ||||||
| chr19:38529064
|
A | G | 2 | a0001c0028t0001g0182a0001c0085t0001g0198 | 2 | HG00621.hp2 HG02027.hp1 |
splice_region_variant&intron_variant | LOW | c.11141+7A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 76/105 | chr19 | 38529064 | ||||||
| chr19:38529112
|
C | T | 29 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(26): Show | 29 | HG00735.hp2 HG01070.hp1 HG01109.hp1 others(26): Show |
intron_variant | MODIFIER | c.11141+55C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 76/105 | chr19 | 38529112 | ||||||
| chr19:38529160
|
G | A | 1 | a0001c0001t0001g0029 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.11141+103G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 76/105 | chr19 | 38529160 | ||||||
| chr19:38529309
|
C | T | 15 | a0001c0027t0001g0030a0001c0027t0001g0059a0001c0068t0002g0209others(12): Show | 15 | HG00609.hp1 HG00642.hp2 HG01071.hp2 others(12): Show |
intron_variant | MODIFIER | c.11141+252C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 76/105 | chr19 | 38529309 | ||||||
| chr19:38529310
|
G | A | 19 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(16): Show | 19 | HG01891.hp1 HG02257.hp2 HG02559.hp2 others(16): Show |
intron_variant | MODIFIER | c.11141+253G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 76/105 | chr19 | 38529310 | ||||||
| chr19:38529412
|
G | A | 1 | a0002c0008t0001g0163 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.11141+355G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 76/105 | chr19 | 38529412 | ||||||
| chr19:38529696
|
A | G | 1 | a0001c0105t0001g0089 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.11141+639A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 76/105 | chr19 | 38529696 | ||||||
| chr19:38529751
|
A | G | 3 | a0001c0069t0001g0139a0007c0039t0001g0031a0017c0041t0001g0117 | 3 | HG02970.hp1 HG03471.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.11141+694A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 76/105 | chr19 | 38529751 | ||||||
| chr19:38529920
|
T | G | 29 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(26): Show | 29 | HG00735.hp2 HG01070.hp1 HG01109.hp1 others(26): Show |
intron_variant | MODIFIER | c.11141+863T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 76/105 | chr19 | 38529920 | ||||||
| chr19:38530186
|
T | C | 29 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(26): Show | 29 | HG00735.hp2 HG01070.hp1 HG01109.hp1 others(26): Show |
intron_variant | MODIFIER | c.11141+1129T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 76/105 | chr19 | 38530186 | ||||||
| chr19:38530411
|
C | T | 1 | a0018c0083t0002g0211 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.11141+1354C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 76/105 | chr19 | 38530411 | ||||||
| chr19:38530430
|
AT | A | 52 | a0001c0001t0001g0010a0001c0001t0001g0069a0001c0009t0001g0199others(49): Show | 52 | HG00609.hp1 HG00639.hp1 HG00735.hp2 others(49): Show |
intron_variant | MODIFIER | c.11141+1389delT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 76/105 | INFO_REALIGN_3_PRIME | chr19 | 38530430 | |||||
| chr19:38530562
|
G | A | 29 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(26): Show | 29 | HG00735.hp2 HG01070.hp1 HG01109.hp1 others(26): Show |
intron_variant | MODIFIER | c.11141+1505G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 76/105 | chr19 | 38530562 | ||||||
| chr19:38530567
|
T | G | 29 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(26): Show | 29 | HG00735.hp2 HG01070.hp1 HG01109.hp1 others(26): Show |
intron_variant | MODIFIER | c.11141+1510T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 76/105 | chr19 | 38530567 | ||||||
| chr19:38530630
|
G | A | 1 | a0001c0069t0001g0139 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.11141+1573G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 76/105 | chr19 | 38530630 | ||||||
| chr19:38530721
|
C | T | 8 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(5): Show | 8 | HG00639.hp1 HG01255.hp2 HG01257.hp2 others(5): Show |
intron_variant | MODIFIER | c.11141+1664C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 76/105 | chr19 | 38530721 | ||||||
| chr19:38530809
|
C | CT | 10 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(7): Show | 10 | HG02647.hp2 HG02897.hp2 HG02922.hp1 others(7): Show |
intron_variant | MODIFIER | c.11142-1671dupT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 76/105 | INFO_REALIGN_3_PRIME | chr19 | 38530809 | |||||
| chr19:38530828
|
GT | G | 19 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(16): Show | 19 | HG01891.hp1 HG02257.hp2 HG02559.hp2 others(16): Show |
intron_variant | MODIFIER | c.11142-1658delT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 76/105 | INFO_REALIGN_3_PRIME | chr19 | 38530828 | |||||
| chr19:38530927
|
C | T | 1 | a0001c0023t0001g0110 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.11142-1563C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 76/105 | chr19 | 38530927 | ||||||
| chr19:38530934
|
C | T | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11142-1556C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 76/105 | chr19 | 38530934 | ||||||
| chr19:38530987
|
C | CT | 8 | a0001c0001t0001g0043a0001c0001t0001g0076a0001c0001t0001g0094others(5): Show | 8 | HG00642.hp1 HG01978.hp1 HG01978.hp2 others(5): Show |
intron_variant | MODIFIER | c.11142-1485dupT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 76/105 | INFO_REALIGN_3_PRIME | chr19 | 38530987 | |||||
| chr19:38530987
|
C | CTCT | 19 | a0001c0019t0002g0218a0001c0022t0001g0051a0001c0022t0001g0052others(16): Show | 19 | HG01943.hp2 HG02015.hp1 HG02074.hp1 others(16): Show |
intron_variant | MODIFIER | c.11142-1502_11142-1 others(9): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 76/105 | INFO_REALIGN_3_PRIME | chr19 | 38530987 | |||||
| chr19:38530987
|
C | CTTTTTTT | 7 | a0001c0035t0001g0113a0001c0062t0001g0050a0001c0067t0001g0183others(4): Show | 7 | HG00735.hp2 HG01070.hp1 HG01109.hp1 others(4): Show |
intron_variant | MODIFIER | c.11142-1491_11142-1 others(13): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 76/105 | INFO_REALIGN_3_PRIME | chr19 | 38530987 | |||||
| chr19:38530987
|
CT | C | 37 | a0001c0005t0001g0156a0001c0009t0001g0199a0001c0009t0001g0200others(34): Show | 37 | HG00639.hp1 HG00642.hp2 HG01255.hp2 others(34): Show |
intron_variant | MODIFIER | c.11142-1485delT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 76/105 | INFO_REALIGN_3_PRIME | chr19 | 38530987 | |||||
| chr19:38530987
|
CTT | C | 10 | a0001c0001t0001g0152a0001c0011t0001g0005a0001c0013t0001g0056others(7): Show | 10 | HG00438.hp2 HG00621.hp1 HG01123.hp2 others(7): Show |
intron_variant | MODIFIER | c.11142-1486_11142-1 others(8): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 76/105 | INFO_REALIGN_3_PRIME | chr19 | 38530987 | |||||
| chr19:38530989
|
T | C | 1 | a0001c0001t0001g0077 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.11142-1501T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 76/105 | chr19 | 38530989 | ||||||
| chr19:38531002
|
T | G | 12 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(9): Show | 12 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(9): Show |
intron_variant | MODIFIER | c.11142-1488T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 76/105 | chr19 | 38531002 | ||||||
| chr19:38531114
|
A | G | 40 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(37): Show | 40 | HG00609.hp1 HG00735.hp2 HG01070.hp1 others(37): Show |
intron_variant | MODIFIER | c.11142-1376A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 76/105 | chr19 | 38531114 | ||||||
| chr19:38531124
|
G | A | 1 | a0028c0087t0001g0023 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.11142-1366G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 76/105 | chr19 | 38531124 | ||||||
| chr19:38531129
|
C | A | 1 | a0024c0061t0001g0044 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.11142-1361C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 76/105 | chr19 | 38531129 | ||||||
| chr19:38531210
|
C | T | 1 | a0009c0103t0001g0146 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.11142-1280C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 76/105 | chr19 | 38531210 | ||||||
| chr19:38531266
|
G | A | 39 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(36): Show | 39 | HG00609.hp1 HG00735.hp2 HG01070.hp1 others(36): Show |
intron_variant | MODIFIER | c.11142-1224G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 76/105 | chr19 | 38531266 | ||||||
| chr19:38531552
|
G | A | 1 | a0001c0001t0001g0152 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.11142-938G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 76/105 | chr19 | 38531552 | ||||||
| chr19:38531619
|
C | A | 3 | a0001c0067t0001g0183a0004c0072t0001g0125a0007c0038t0002g0215 | 3 | HG01109.hp1 HG01169.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.11142-871C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 76/105 | chr19 | 38531619 | ||||||
| chr19:38531656
|
C | T | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11142-834C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 76/105 | chr19 | 38531656 | ||||||
| chr19:38531907
|
GAACAAAA others(6): Show |
G | 1 | a0003c0006t0001g0191 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.11142-575_11142-56 others(17): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 76/105 | INFO_REALIGN_3_PRIME | chr19 | 38531907 | |||||
| chr19:38532083
|
A | G | 28 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(25): Show | 28 | HG00735.hp2 HG01070.hp1 HG01109.hp1 others(25): Show |
intron_variant | MODIFIER | c.11142-407A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 76/105 | chr19 | 38532083 | ||||||
| chr19:38532122
|
C | CT | 18 | a0001c0002t0001g0141a0001c0011t0001g0003a0001c0011t0001g0005others(15): Show | 18 | HG01891.hp1 HG02080.hp1 HG02257.hp2 others(15): Show |
intron_variant | MODIFIER | c.11142-351dupT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 76/105 | INFO_REALIGN_3_PRIME | chr19 | 38532122 | |||||
| chr19:38532122
|
CT | C | 37 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(34): Show | 37 | HG00735.hp2 HG01070.hp1 HG01070.hp2 others(34): Show |
intron_variant | MODIFIER | c.11142-351delT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 76/105 | INFO_REALIGN_3_PRIME | chr19 | 38532122 | |||||
| chr19:38532156
|
C | G | 28 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(25): Show | 28 | HG00735.hp2 HG01070.hp1 HG01109.hp1 others(25): Show |
intron_variant | MODIFIER | c.11142-334C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 76/105 | chr19 | 38532156 | ||||||
| chr19:38532278
|
C | G | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11142-212C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 76/105 | chr19 | 38532278 | ||||||
| chr19:38532339
|
T | A | 1 | a0001c0001t0001g0058 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.11142-151T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 76/105 | chr19 | 38532339 | ||||||
| chr19:38533025
|
T | C | 6 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(3): Show | 6 | HG00733.hp2 HG01099.hp2 HG01123.hp1 others(3): Show |
intron_variant | MODIFIER | c.11259+289T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 78/105 | chr19 | 38533025 | ||||||
| chr19:38533029
|
GA | G | 12 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(9): Show | 12 | HG00639.hp1 HG01255.hp2 HG01257.hp2 others(9): Show |
intron_variant | MODIFIER | c.11259+294delA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 78/105 | chr19 | 38533029 | ||||||
| chr19:38533139
|
G | A | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11259+403G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 78/105 | chr19 | 38533139 | ||||||
| chr19:38533217
|
G | C | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11259+481G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 78/105 | chr19 | 38533217 | ||||||
| chr19:38533352
|
T | C | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11259+616T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 78/105 | chr19 | 38533352 | ||||||
| chr19:38533353
|
G | A | 1 | a0003c0064t0001g0181 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.11259+617G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 78/105 | chr19 | 38533353 | ||||||
| chr19:38533409
|
T | C | 1 | a0001c0001t0001g0148 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.11259+673T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 78/105 | chr19 | 38533409 | ||||||
| chr19:38533533
|
T | A | 5 | a0001c0027t0001g0030a0001c0027t0001g0059a0001c0068t0002g0209others(2): Show | 5 | HG00642.hp2 HG01433.hp1 HG01975.hp2 others(2): Show |
intron_variant | MODIFIER | c.11259+797T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 78/105 | chr19 | 38533533 | ||||||
| chr19:38533562
|
C | T | 1 | a0004c0072t0001g0125 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.11259+826C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 78/105 | chr19 | 38533562 | ||||||
| chr19:38533783
|
C | CA | 10 | a0001c0066t0001g0092a0001c0071t0001g0186a0003c0006t0001g0045others(7): Show | 10 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(7): Show |
intron_variant | MODIFIER | c.11260-921dupA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 78/105 | INFO_REALIGN_3_PRIME | chr19 | 38533783 | |||||
| chr19:38533783
|
CA | C | 8 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(5): Show | 8 | HG00639.hp1 HG01255.hp2 HG01257.hp2 others(5): Show |
intron_variant | MODIFIER | c.11260-921delA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 78/105 | INFO_REALIGN_3_PRIME | chr19 | 38533783 | |||||
| chr19:38533798
|
A | C | 1 | a0021c0112t0001g0196 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.11260-922A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 78/105 | chr19 | 38533798 | ||||||
| chr19:38533816
|
C | T | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11260-904C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 78/105 | chr19 | 38533816 | ||||||
| chr19:38533850
|
A | G | 4 | a0001c0003t0002g0206a0001c0003t0002g0207a0001c0070t0001g0002others(1): Show | 4 | HG02615.hp1 HG02622.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.11260-870A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 78/105 | chr19 | 38533850 | ||||||
| chr19:38533967
|
A | G | 1 | a0001c0075t0001g0165 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.11260-753A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 78/105 | chr19 | 38533967 | ||||||
| chr19:38534005
|
A | AT | 32 | a0001c0001t0001g0022a0001c0001t0001g0058a0001c0002t0001g0194others(29): Show | 32 | HG00609.hp1 HG00639.hp1 HG01071.hp2 others(29): Show |
intron_variant | MODIFIER | c.11260-695dupT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 78/105 | INFO_REALIGN_3_PRIME | chr19 | 38534005 | |||||
| chr19:38534005
|
AT | A | 33 | a0001c0001t0001g0093a0001c0001t0001g0148a0001c0019t0002g0217others(30): Show | 33 | HG00642.hp2 HG00735.hp2 HG01070.hp1 others(30): Show |
intron_variant | MODIFIER | c.11260-695delT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 78/105 | INFO_REALIGN_3_PRIME | chr19 | 38534005 | |||||
| chr19:38534081
|
A | G | 12 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(9): Show | 12 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(9): Show |
intron_variant | MODIFIER | c.11260-639A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 78/105 | chr19 | 38534081 | ||||||
| chr19:38534131
|
C | T | 12 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(9): Show | 12 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(9): Show |
intron_variant | MODIFIER | c.11260-589C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 78/105 | chr19 | 38534131 | ||||||
| chr19:38534159
|
A | G | 1 | a0007c0038t0002g0215 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.11260-561A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 78/105 | chr19 | 38534159 | ||||||
| chr19:38534218
|
A | T | 1 | a0026c0046t0001g0127 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.11260-502A>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 78/105 | chr19 | 38534218 | ||||||
| chr19:38534399
|
T | A | 12 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(9): Show | 12 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(9): Show |
intron_variant | MODIFIER | c.11260-321T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 78/105 | chr19 | 38534399 | ||||||
| chr19:38534491
|
C | T | 8 | a0001c0001t0001g0152a0001c0013t0001g0056a0001c0013t0001g0060others(5): Show | 8 | HG00438.hp2 HG00621.hp1 HG01123.hp2 others(5): Show |
intron_variant | MODIFIER | c.11260-229C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 78/105 | chr19 | 38534491 | ||||||
| chr19:38534701
|
T | G | 12 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(9): Show | 12 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(9): Show |
intron_variant | MODIFIER | c.11260-19T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 78/105 | chr19 | 38534701 | ||||||
| chr19:38534953
|
C | G | 1 | a0004c0015t0001g0098 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.11359+134C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 79/105 | chr19 | 38534953 | ||||||
| chr19:38535036
|
C | G | 8 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(5): Show | 8 | HG00639.hp1 HG01255.hp2 HG01257.hp2 others(5): Show |
intron_variant | MODIFIER | c.11360-105C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 79/105 | chr19 | 38535036 | ||||||
| chr19:38535668
|
G | A | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11516+276G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 81/105 | chr19 | 38535668 | ||||||
| chr19:38535732
|
C | T | 1 | a0001c0114t0001g0072 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.11517-265C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 81/105 | chr19 | 38535732 | ||||||
| chr19:38535868
|
C | T | 3 | a0004c0015t0001g0098a0004c0015t0001g0187a0004c0015t0001g0188 | 3 | HG01884.hp1 HG02615.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.11517-129C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 81/105 | chr19 | 38535868 | ||||||
| chr19:38535885
|
G | C | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11517-112G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 81/105 | chr19 | 38535885 | ||||||
| chr19:38536280
|
CG | C | 3 | a0006c0007t0002g0202a0006c0007t0002g0212a0006c0007t0002g0213 | 3 | HG02257.hp2 HG03098.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.11590+211delG | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 82/105 | chr19 | 38536280 | ||||||
| chr19:38536281
|
GC | G | 94 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(91): Show | 94 | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(91): Show |
intron_variant | MODIFIER | c.11590+220delC | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 82/105 | INFO_REALIGN_3_PRIME | chr19 | 38536281 | |||||
| chr19:38536282
|
C | A | 3 | a0006c0007t0002g0202a0006c0007t0002g0212a0006c0007t0002g0213 | 3 | HG02257.hp2 HG03098.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.11590+212C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 82/105 | chr19 | 38536282 | ||||||
| chr19:38536291
|
G | A | 1 | a0007c0038t0002g0215 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.11590+221G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 82/105 | chr19 | 38536291 | ||||||
| chr19:38536440
|
G | A | 1 | a0001c0098t0001g0071 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.11591-310G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 82/105 | chr19 | 38536440 | ||||||
| chr19:38536633
|
CTGTG | C | 5 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(2): Show | 5 | HG02897.hp2 HG02922.hp1 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.11591-113_11591-11 others(8): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 82/105 | INFO_REALIGN_3_PRIME | chr19 | 38536633 | |||||
| chr19:38536686
|
C | A | 1 | a0009c0104t0001g0013 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.11591-64C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 82/105 | chr19 | 38536686 | ||||||
| chr19:38536822
|
C | G | 1 | a0001c0066t0001g0092 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.11608+55C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 83/105 | chr19 | 38536822 | ||||||
| chr19:38537104
|
G | A | 8 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(5): Show | 8 | HG02647.hp2 HG02897.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.11608+337G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 83/105 | chr19 | 38537104 | ||||||
| chr19:38537190
|
G | A | 2 | a0001c0001t0001g0015a0001c0005t0001g0176 | 2 | HG00733.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.11608+423G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 83/105 | chr19 | 38537190 | ||||||
| chr19:38537224
|
GTGCGCCT others(8): Show |
G | 7 | a0001c0027t0001g0030a0001c0027t0001g0059a0001c0096t0001g0090others(4): Show | 7 | HG01433.hp1 HG01891.hp1 HG01975.hp2 others(4): Show |
intron_variant | MODIFIER | c.11608+475_11608+48 others(19): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 83/105 | INFO_REALIGN_3_PRIME | chr19 | 38537224 | |||||
| chr19:38537245
|
C | A | 12 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(9): Show | 12 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(9): Show |
intron_variant | MODIFIER | c.11608+478C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 83/105 | chr19 | 38537245 | ||||||
| chr19:38537295
|
C | T | 3 | a0008c0010t0001g0006a0008c0010t0001g0007a0008c0010t0001g0008 | 3 | HG02965.hp1 HG03139.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.11608+528C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 83/105 | chr19 | 38537295 | ||||||
| chr19:38537433
|
C | T | 3 | a0008c0010t0001g0006a0008c0010t0001g0007a0008c0010t0001g0008 | 3 | HG02965.hp1 HG03139.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.11609-447C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 83/105 | chr19 | 38537433 | ||||||
| chr19:38537669
|
C | T | 8 | a0001c0001t0001g0152a0001c0013t0001g0056a0001c0013t0001g0060others(5): Show | 8 | HG00438.hp2 HG00621.hp1 HG01123.hp2 others(5): Show |
intron_variant | MODIFIER | c.11609-211C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 83/105 | chr19 | 38537669 | ||||||
| chr19:38537736
|
AGT | A | 2 | a0004c0015t0001g0187a0004c0015t0001g0188 | 2 | HG01884.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.11609-141_11609-14 others(6): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 83/105 | INFO_REALIGN_3_PRIME | chr19 | 38537736 | |||||
| chr19:38537747
|
A | T | 24 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(21): Show | 24 | HG01070.hp1 HG01109.hp1 HG01169.hp1 others(21): Show |
intron_variant | MODIFIER | c.11609-133A>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 83/105 | chr19 | 38537747 | ||||||
| chr19:38538013
|
G | A | 1 | a0020c0081t0001g0143 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.11689+53G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38538013 | ||||||
| chr19:38538028
|
A | G | 12 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(9): Show | 12 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(9): Show |
intron_variant | MODIFIER | c.11689+68A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38538028 | ||||||
| chr19:38538054
|
C | G | 1 | a0001c0005t0001g0176 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.11689+94C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38538054 | ||||||
| chr19:38538119
|
T | C | 61 | a0001c0001t0001g0152a0001c0009t0001g0199a0001c0009t0001g0200others(58): Show | 61 | HG00438.hp2 HG00609.hp1 HG00621.hp1 others(58): Show |
intron_variant | MODIFIER | c.11689+159T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38538119 | ||||||
| chr19:38538119
|
T | G | 24 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(21): Show | 24 | HG01070.hp1 HG01109.hp1 HG01169.hp1 others(21): Show |
intron_variant | MODIFIER | c.11689+159T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38538119 | ||||||
| chr19:38538123
|
C | T | 1 | a0001c0031t0001g0159 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.11689+163C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38538123 | ||||||
| chr19:38538178
|
T | C | 12 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(9): Show | 12 | HG02559.hp2 HG02647.hp2 HG02897.hp2 others(9): Show |
intron_variant | MODIFIER | c.11689+218T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38538178 | ||||||
| chr19:38538181
|
T | G | 2 | a0004c0047t0002g0205a0016c0106t0001g0099 | 2 | HG03139.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.11689+221T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38538181 | ||||||
| chr19:38538244
|
A | T | 1 | a0001c0036t0001g0111 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.11689+284A>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38538244 | ||||||
| chr19:38538258
|
G | T | 1 | a0001c0108t0001g0138 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.11689+298G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38538258 | ||||||
| chr19:38538331
|
T | C | 1 | a0034c0042t0001g0104 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.11689+371T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38538331 | ||||||
| chr19:38538413
|
G | T | 12 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(9): Show | 12 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(9): Show |
intron_variant | MODIFIER | c.11689+453G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38538413 | ||||||
| chr19:38538492
|
A | G | 24 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(21): Show | 24 | HG01070.hp1 HG01109.hp1 HG01169.hp1 others(21): Show |
intron_variant | MODIFIER | c.11689+532A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38538492 | ||||||
| chr19:38538547
|
A | G | 8 | a0001c0001t0001g0152a0001c0013t0001g0056a0001c0013t0001g0060others(5): Show | 8 | HG00438.hp2 HG00621.hp1 HG01123.hp2 others(5): Show |
intron_variant | MODIFIER | c.11689+587A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38538547 | ||||||
| chr19:38538561
|
G | A | 24 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(21): Show | 24 | HG01070.hp1 HG01109.hp1 HG01175.hp2 others(21): Show |
intron_variant | MODIFIER | c.11689+601G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38538561 | ||||||
| chr19:38538577
|
C | T | 1 | a0001c0095t0001g0190 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.11689+617C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38538577 | ||||||
| chr19:38538652
|
T | G | 1 | a0018c0083t0002g0211 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.11689+692T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38538652 | ||||||
| chr19:38538893
|
A | G | 12 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(9): Show | 12 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(9): Show |
intron_variant | MODIFIER | c.11689+933A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38538893 | ||||||
| chr19:38539037
|
C | CT | 3 | a0001c0067t0001g0183a0004c0072t0001g0125a0007c0038t0002g0215 | 3 | HG01109.hp1 HG01169.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.11689+1079dupT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | INFO_REALIGN_3_PRIME | chr19 | 38539037 | |||||
| chr19:38539053
|
C | T | 3 | a0004c0015t0001g0098a0004c0015t0001g0187a0004c0015t0001g0188 | 3 | HG01884.hp1 HG02615.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.11689+1093C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38539053 | ||||||
| chr19:38539140
|
T | C | 12 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(9): Show | 12 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(9): Show |
intron_variant | MODIFIER | c.11689+1180T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38539140 | ||||||
| chr19:38539148
|
C | G | 22 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(19): Show | 22 | HG01433.hp1 HG01891.hp1 HG01975.hp2 others(19): Show |
intron_variant | MODIFIER | c.11689+1188C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38539148 | ||||||
| chr19:38539158
|
A | G | 4 | a0001c0069t0001g0139a0004c0115t0004g0216a0007c0039t0001g0031others(1): Show | 4 | HG02630.hp1 HG02970.hp1 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.11689+1198A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38539158 | ||||||
| chr19:38539238
|
C | CT | 7 | a0001c0001t0001g0043a0001c0002t0001g0091a0001c0027t0001g0059others(4): Show | 7 | HG00642.hp1 HG01981.hp1 HG02148.hp2 others(4): Show |
intron_variant | MODIFIER | c.11689+1298dupT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | INFO_REALIGN_3_PRIME | chr19 | 38539238 | |||||
| chr19:38539238
|
CT | C | 54 | a0001c0001t0001g0147a0001c0001t0001g0152a0001c0004t0001g0101others(51): Show | 54 | HG00438.hp2 HG00621.hp1 HG00639.hp1 others(51): Show |
intron_variant | MODIFIER | c.11689+1298delT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | INFO_REALIGN_3_PRIME | chr19 | 38539238 | |||||
| chr19:38539265
|
A | G | 12 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(9): Show | 12 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(9): Show |
intron_variant | MODIFIER | c.11689+1305A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38539265 | ||||||
| chr19:38539323
|
C | T | 3 | a0004c0015t0001g0098a0004c0015t0001g0187a0004c0015t0001g0188 | 3 | HG01884.hp1 HG02615.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.11689+1363C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38539323 | ||||||
| chr19:38539395
|
T | C | 6 | a0001c0054t0001g0136a0001c0062t0001g0050a0001c0110t0001g0157others(3): Show | 6 | HG00735.hp2 HG02630.hp2 HG03669.hp2 others(3): Show |
intron_variant | MODIFIER | c.11689+1435T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38539395 | ||||||
| chr19:38539452
|
G | C | 2 | a0001c0028t0001g0182a0001c0085t0001g0198 | 2 | HG00621.hp2 HG02027.hp1 |
intron_variant | MODIFIER | c.11689+1492G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38539452 | ||||||
| chr19:38539492
|
C | T | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11689+1532C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38539492 | ||||||
| chr19:38539537
|
C | T | 1 | a0001c0056t0001g0135 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.11689+1577C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38539537 | ||||||
| chr19:38539705
|
A | G | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11689+1745A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38539705 | ||||||
| chr19:38539892
|
CCAATTTA others(21): Show |
C | 27 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(24): Show | 27 | HG01070.hp1 HG01109.hp1 HG01169.hp1 others(24): Show |
intron_variant | MODIFIER | c.11689+1951_11689+1 others(34): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | INFO_REALIGN_3_PRIME | chr19 | 38539892 | |||||
| chr19:38540122
|
A | G | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11689+2162A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540122 | ||||||
| chr19:38540154
|
T | C | 12 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(9): Show | 12 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(9): Show |
intron_variant | MODIFIER | c.11689+2194T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540154 | ||||||
| chr19:38540174
|
T | C | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11689+2214T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540174 | ||||||
| chr19:38540226
|
G | A | 1 | a0001c0098t0001g0071 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.11689+2266G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540226 | ||||||
| chr19:38540227
|
C | T | 1 | a0001c0098t0001g0071 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.11689+2267C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540227 | ||||||
| chr19:38540230
|
T | C | 3 | a0004c0015t0001g0098a0004c0015t0001g0187a0004c0015t0001g0188 | 3 | HG01884.hp1 HG02615.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.11689+2270T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540230 | ||||||
| chr19:38540230
|
TTTAGGAG others(611): Show |
T | 1 | a0001c0098t0001g0071 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.11689+2272_11690-2 others(6): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | INFO_REALIGN_3_PRIME | chr19 | 38540230 | |||||
| chr19:38540257
|
T | C | 1 | a0003c0100t0001g0150 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.11689+2297T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540257 | ||||||
| chr19:38540267
|
C | G | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11689+2307C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540267 | ||||||
| chr19:38540312
|
C | CA | 5 | a0001c0019t0002g0217a0001c0022t0001g0052a0001c0068t0002g0209others(2): Show | 5 | HG00642.hp2 HG01243.hp2 HG03942.hp1 others(2): Show |
intron_variant | MODIFIER | c.11689+2366dupA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | INFO_REALIGN_3_PRIME | chr19 | 38540312 | |||||
| chr19:38540324
|
AAATCATA others(80): Show |
A | 1 | a0001c0023t0001g0110 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.11689+2468_11689+2 others(93): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | INFO_REALIGN_3_PRIME | chr19 | 38540324 | |||||
| chr19:38540387
|
A | G | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11689+2427A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540387 | ||||||
| chr19:38540399
|
A | G | 3 | a0008c0010t0001g0006a0008c0010t0001g0007a0008c0010t0001g0008 | 3 | HG02965.hp1 HG03139.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.11689+2439A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540399 | ||||||
| chr19:38540416
|
A | G | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11689+2456A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540416 | ||||||
| chr19:38540428
|
A | G | 3 | a0008c0010t0001g0006a0008c0010t0001g0007a0008c0010t0001g0008 | 3 | HG02965.hp1 HG03139.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.11689+2468A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540428 | ||||||
| chr19:38540445
|
A | G | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11689+2485A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540445 | ||||||
| chr19:38540457
|
A | ATAATAAA others(22): Show |
8 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(5): Show | 8 | HG02647.hp2 HG02897.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.11689+2525_11689+2 others(35): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | INFO_REALIGN_3_PRIME | chr19 | 38540457 | |||||
| chr19:38540457
|
A | ATAATAAA others(51): Show |
1 | a0001c0096t0001g0090 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.11689+2525_11689+2 others(64): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | INFO_REALIGN_3_PRIME | chr19 | 38540457 | |||||
| chr19:38540457
|
A | G | 3 | a0008c0010t0001g0006a0008c0010t0001g0007a0008c0010t0001g0008 | 3 | HG02965.hp1 HG03139.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.11689+2497A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540457 | ||||||
| chr19:38540457
|
ATAATAAA others(51): Show |
A | 3 | a0004c0015t0001g0098a0004c0015t0001g0187a0004c0015t0001g0188 | 3 | HG01884.hp1 HG02615.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.11689+2526_11689+2 others(64): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | INFO_REALIGN_3_PRIME | chr19 | 38540457 | |||||
| chr19:38540474
|
A | G | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11689+2514A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540474 | ||||||
| chr19:38540486
|
A | ATAATAAA others(22): Show |
7 | a0001c0003t0002g0206a0001c0003t0002g0207a0001c0028t0001g0182others(4): Show | 7 | HG00621.hp2 HG02615.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.11689+2592_11689+2 others(35): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | INFO_REALIGN_3_PRIME | chr19 | 38540486 | |||||
| chr19:38540486
|
A | ATAATAAA others(51): Show |
3 | a0001c0027t0001g0030a0001c0027t0001g0059a0006c0007t0002g0203 | 3 | HG01891.hp1 HG01975.hp2 HG01981.hp1 |
intron_variant | MODIFIER | c.11689+2563_11689+2 others(64): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | INFO_REALIGN_3_PRIME | chr19 | 38540486 | |||||
| chr19:38540486
|
A | ATAATAAA others(109): Show |
1 | a0001c0001t0001g0070 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.11689+2620_11689+2 others(122): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | INFO_REALIGN_3_PRIME | chr19 | 38540486 | |||||
| chr19:38540486
|
A | ATAATAAA others(138): Show |
3 | a0001c0014t0001g0025a0001c0020t0001g0185a0029c0057t0002g0204 | 3 | HG02109.hp1 HG02257.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.11689+2620_11689+2 others(151): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | INFO_REALIGN_3_PRIME | chr19 | 38540486 | |||||
| chr19:38540486
|
A | ATAATAAA others(167): Show |
1 | a0001c0059t0001g0184 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.11689+2620_11689+2 others(180): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | INFO_REALIGN_3_PRIME | chr19 | 38540486 | |||||
| chr19:38540486
|
A | G | 14 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(11): Show | 14 | HG01433.hp1 HG02015.hp2 HG02647.hp2 others(11): Show |
intron_variant | MODIFIER | c.11689+2526A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540486 | ||||||
| chr19:38540486
|
ATAATAAA others(109): Show |
A | 21 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(18): Show | 21 | HG01070.hp1 HG01175.hp2 HG01243.hp2 others(18): Show |
intron_variant | MODIFIER | c.11689+2621_11690-2 others(6): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | INFO_REALIGN_3_PRIME | chr19 | 38540486 | |||||
| chr19:38540486
|
ATAATAAA others(138): Show |
A | 5 | a0001c0056t0001g0135a0001c0067t0001g0183a0004c0072t0001g0125others(2): Show | 5 | HG01109.hp1 HG01169.hp1 HG02559.hp2 others(2): Show |
intron_variant | MODIFIER | c.11689+2621_11690-2 others(6): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | INFO_REALIGN_3_PRIME | chr19 | 38540486 | |||||
| chr19:38540494
|
CCTCCAAT others(80): Show |
C | 2 | a0004c0115t0004g0216a0017c0041t0001g0117 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.11689+2621_11690-2 others(93): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | INFO_REALIGN_3_PRIME | chr19 | 38540494 | |||||
| chr19:38540503
|
A | G | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11689+2543A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540503 | ||||||
| chr19:38540511
|
CAGTGTAA others(283): Show |
C | 1 | a0003c0006t0001g0114 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.11689+2621_11690-2 others(6): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | INFO_REALIGN_3_PRIME | chr19 | 38540511 | |||||
| chr19:38540515
|
G | A | 13 | a0001c0069t0001g0139a0001c0101t0001g0041a0003c0006t0001g0045others(10): Show | 13 | HG00609.hp1 HG00639.hp1 HG01071.hp2 others(10): Show |
intron_variant | MODIFIER | c.11689+2555G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540515 | ||||||
| chr19:38540523
|
CCTCCAAT others(51): Show |
C | 8 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(5): Show | 8 | HG00639.hp1 HG01255.hp2 HG01257.hp2 others(5): Show |
intron_variant | MODIFIER | c.11689+2621_11689+2 others(64): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | INFO_REALIGN_3_PRIME | chr19 | 38540523 | |||||
| chr19:38540532
|
A | G | 10 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0191others(7): Show | 10 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(7): Show |
intron_variant | MODIFIER | c.11689+2572A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540532 | ||||||
| chr19:38540540
|
CAGTGTAA others(254): Show |
C | 9 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0191others(6): Show | 9 | HG00609.hp1 HG01934.hp1 HG02056.hp1 others(6): Show |
intron_variant | MODIFIER | c.11689+2621_11690-2 others(6): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | INFO_REALIGN_3_PRIME | chr19 | 38540540 | |||||
| chr19:38540544
|
G | A | 1 | a0003c0100t0001g0150 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.11689+2584G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540544 | ||||||
| chr19:38540552
|
CCTCCAAT others(22): Show |
C | 6 | a0001c0068t0002g0209a0001c0119t0001g0189a0002c0079t0001g0173others(3): Show | 6 | HG00642.hp2 HG01243.hp1 HG02257.hp2 others(3): Show |
intron_variant | MODIFIER | c.11689+2621_11689+2 others(35): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | INFO_REALIGN_3_PRIME | chr19 | 38540552 | |||||
| chr19:38540561
|
A | G | 1 | a0003c0100t0001g0150 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.11689+2601A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540561 | ||||||
| chr19:38540569
|
CAGTGTAA others(225): Show |
C | 1 | a0003c0100t0001g0150 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.11689+2621_11690-2 others(6): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | INFO_REALIGN_3_PRIME | chr19 | 38540569 | |||||
| chr19:38540573
|
G | GTAATAAA others(51): Show |
1 | a0007c0039t0001g0031 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.11689+2620_11689+2 others(64): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | INFO_REALIGN_3_PRIME | chr19 | 38540573 | |||||
| chr19:38540581
|
T | C | 162 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(159): Show | 162 | HG00438.hp1 HG00438.hp2 HG00609.hp2 others(159): Show |
intron_variant | MODIFIER | c.11689+2621T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540581 | ||||||
| chr19:38540602
|
G | A | 1 | a0007c0039t0001g0031 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.11689+2642G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540602 | ||||||
| chr19:38540602
|
G | GTAATAAA others(51): Show |
1 | a0001c0069t0001g0139 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.11689+2670_11689+2 others(64): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | INFO_REALIGN_3_PRIME | chr19 | 38540602 | |||||
| chr19:38540631
|
G | A | 2 | a0001c0069t0001g0139a0007c0039t0001g0031 | 2 | HG02970.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.11689+2671G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540631 | ||||||
| chr19:38540708
|
A | G | 3 | a0001c0067t0001g0183a0004c0072t0001g0125a0007c0038t0002g0215 | 3 | HG01109.hp1 HG01169.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.11690-2639A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540708 | ||||||
| chr19:38540714
|
C | A | 1 | a0001c0075t0001g0165 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.11690-2633C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540714 | ||||||
| chr19:38540732
|
A | G | 3 | a0004c0015t0001g0098a0004c0015t0001g0187a0004c0015t0001g0188 | 3 | HG01884.hp1 HG02615.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.11690-2615A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540732 | ||||||
| chr19:38540785
|
C | A | 7 | a0001c0001t0001g0152a0001c0013t0001g0056a0001c0013t0001g0060others(4): Show | 7 | HG00438.hp2 HG00621.hp1 HG03710.hp1 others(4): Show |
intron_variant | MODIFIER | c.11690-2562C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540785 | ||||||
| chr19:38540790
|
A | G | 3 | a0004c0015t0001g0098a0004c0015t0001g0187a0004c0015t0001g0188 | 3 | HG01884.hp1 HG02615.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.11690-2557A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540790 | ||||||
| chr19:38540801
|
A | C | 79 | a0001c0001t0001g0088a0001c0001t0001g0152a0001c0003t0002g0206others(76): Show | 79 | HG00438.hp2 HG00621.hp1 HG00639.hp1 others(76): Show |
intron_variant | MODIFIER | c.11690-2546A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540801 | ||||||
| chr19:38540805
|
G | A | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11690-2542G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540805 | ||||||
| chr19:38540822
|
A | G | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11690-2525A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540822 | ||||||
| chr19:38540834
|
G | A | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11690-2513G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540834 | ||||||
| chr19:38540849
|
T | A | 1 | a0001c0098t0001g0071 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.11690-2498T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540849 | ||||||
| chr19:38540851
|
A | G | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11690-2496A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540851 | ||||||
| chr19:38540863
|
G | A | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11690-2484G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540863 | ||||||
| chr19:38540880
|
A | G | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11690-2467A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540880 | ||||||
| chr19:38540892
|
G | A | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11690-2455G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540892 | ||||||
| chr19:38540909
|
A | G | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11690-2438A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540909 | ||||||
| chr19:38540921
|
G | A | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11690-2426G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540921 | ||||||
| chr19:38540938
|
A | G | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11690-2409A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540938 | ||||||
| chr19:38540950
|
G | A | 35 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(32): Show | 35 | HG00609.hp1 HG01070.hp1 HG01071.hp2 others(32): Show |
intron_variant | MODIFIER | c.11690-2397G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540950 | ||||||
| chr19:38540967
|
A | G | 1 | a0003c0006t0001g0045 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.11690-2380A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540967 | ||||||
| chr19:38540972
|
T | C | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11690-2375T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540972 | ||||||
| chr19:38540979
|
A | G | 4 | a0001c0003t0002g0206a0001c0003t0002g0207a0001c0070t0001g0002others(1): Show | 4 | HG02615.hp1 HG02622.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.11690-2368A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38540979 | ||||||
| chr19:38541074
|
G | A | 4 | a0001c0062t0001g0050a0002c0025t0001g0162a0002c0025t0001g0170others(1): Show | 4 | HG00735.hp2 HG03669.hp2 HG03834.hp1 others(1): Show |
intron_variant | MODIFIER | c.11690-2273G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38541074 | ||||||
| chr19:38541115
|
T | A | 2 | a0001c0071t0001g0186a0015c0086t0001g0019 | 2 | HG03130.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.11690-2232T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38541115 | ||||||
| chr19:38541146
|
G | C | 1 | a0026c0046t0001g0127 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.11690-2201G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38541146 | ||||||
| chr19:38541183
|
C | T | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11690-2164C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38541183 | ||||||
| chr19:38541273
|
A | G | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11690-2074A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38541273 | ||||||
| chr19:38541278
|
C | A | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11690-2069C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38541278 | ||||||
| chr19:38541422
|
A | C | 15 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(12): Show | 15 | HG02559.hp2 HG02622.hp1 HG02647.hp2 others(12): Show |
intron_variant | MODIFIER | c.11690-1925A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38541422 | ||||||
| chr19:38541454
|
A | ACCTGTAA others(128): Show |
35 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(32): Show | 35 | HG00609.hp1 HG01070.hp1 HG01071.hp2 others(32): Show |
intron_variant | MODIFIER | c.11690-1775_11690-1 others(141): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | INFO_REALIGN_3_PRIME | chr19 | 38541454 | |||||
| chr19:38541454
|
A | ACCTGTAA others(128): Show |
41 | a0001c0005t0001g0155a0001c0005t0001g0179a0001c0009t0001g0199others(38): Show | 41 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(38): Show |
intron_variant | MODIFIER | c.11690-1867_11690-1 others(141): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | INFO_REALIGN_3_PRIME | chr19 | 38541454 | |||||
| chr19:38541454
|
A | ACCTGTAA others(128): Show |
2 | a0001c0070t0001g0002a0028c0087t0001g0023 | 2 | HG02622.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.11690-1867_11690-1 others(141): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | INFO_REALIGN_3_PRIME | chr19 | 38541454 | |||||
| chr19:38541481
|
C | TGAGGCAG others(128): Show |
44 | a0001c0001t0001g0152a0001c0005t0001g0154a0001c0005t0001g0156others(41): Show | 44 | HG00438.hp1 HG00438.hp2 HG00733.hp2 others(41): Show |
intron_variant | MODIFIER | c.11690-1867_11690-1 others(141): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38541481 | ||||||
| chr19:38541576
|
C | T | 3 | a0001c0028t0001g0068a0001c0089t0001g0046a0001c0118t0001g0134 | 3 | NA18998.hp1 NA19010.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.11690-1771C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38541576 | ||||||
| chr19:38541597
|
T | C | 2 | a0001c0068t0002g0209a0001c0119t0001g0189 | 2 | HG00642.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.11690-1750T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38541597 | ||||||
| chr19:38541652
|
T | G | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11690-1695T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38541652 | ||||||
| chr19:38541715
|
C | CA | 20 | a0001c0001t0001g0152a0001c0013t0001g0056a0001c0013t0001g0060others(17): Show | 20 | HG00438.hp2 HG00609.hp1 HG00621.hp1 others(17): Show |
intron_variant | MODIFIER | c.11690-1622dupA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | INFO_REALIGN_3_PRIME | chr19 | 38541715 | |||||
| chr19:38541761
|
A | T | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11690-1586A>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38541761 | ||||||
| chr19:38541791
|
A | C | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11690-1556A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38541791 | ||||||
| chr19:38541813
|
C | T | 9 | a0001c0001t0001g0145a0001c0001t0001g0147a0001c0001t0001g0148others(6): Show | 9 | HG01169.hp2 HG01943.hp1 HG01975.hp1 others(6): Show |
intron_variant | MODIFIER | c.11690-1534C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38541813 | ||||||
| chr19:38541885
|
C | T | 6 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(3): Show | 6 | HG00733.hp1 HG01257.hp1 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.11690-1462C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38541885 | ||||||
| chr19:38541980
|
G | A | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11690-1367G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38541980 | ||||||
| chr19:38542066
|
C | CA | 50 | a0001c0004t0001g0096a0001c0011t0001g0003a0001c0011t0001g0005others(47): Show | 50 | HG01070.hp1 HG01109.hp1 HG01169.hp1 others(47): Show |
intron_variant | MODIFIER | c.11690-1266dupA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | INFO_REALIGN_3_PRIME | chr19 | 38542066 | |||||
| chr19:38542095
|
C | T | 1 | a0001c0067t0001g0183 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.11690-1252C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38542095 | ||||||
| chr19:38542103
|
G | GT | 17 | a0001c0001t0001g0094a0001c0009t0001g0199a0001c0009t0001g0200others(14): Show | 17 | HG00438.hp2 HG00639.hp1 HG01255.hp2 others(14): Show |
intron_variant | MODIFIER | c.11690-1230dupT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | INFO_REALIGN_3_PRIME | chr19 | 38542103 | |||||
| chr19:38542166
|
C | T | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11690-1181C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38542166 | ||||||
| chr19:38542272
|
T | C | 24 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(21): Show | 24 | HG01070.hp1 HG01109.hp1 HG01169.hp1 others(21): Show |
intron_variant | MODIFIER | c.11690-1075T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38542272 | ||||||
| chr19:38542388
|
T | C | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11690-959T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38542388 | ||||||
| chr19:38542432
|
T | C | 8 | a0001c0001t0001g0152a0001c0013t0001g0056a0001c0013t0001g0060others(5): Show | 8 | HG00438.hp2 HG00621.hp1 HG01123.hp2 others(5): Show |
intron_variant | MODIFIER | c.11690-915T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38542432 | ||||||
| chr19:38542540
|
C | T | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11690-807C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38542540 | ||||||
| chr19:38542620
|
G | A | 22 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(19): Show | 22 | HG01433.hp1 HG01891.hp1 HG01975.hp2 others(19): Show |
intron_variant | MODIFIER | c.11690-727G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38542620 | ||||||
| chr19:38542679
|
T | C | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11690-668T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38542679 | ||||||
| chr19:38542810
|
C | T | 2 | a0001c0068t0002g0209a0001c0119t0001g0189 | 2 | HG00642.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.11690-537C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38542810 | ||||||
| chr19:38542814
|
C | T | 8 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(5): Show | 8 | HG00639.hp1 HG01255.hp2 HG01257.hp2 others(5): Show |
intron_variant | MODIFIER | c.11690-533C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38542814 | ||||||
| chr19:38542817
|
A | G | 69 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(66): Show | 69 | HG00609.hp1 HG00639.hp1 HG01070.hp1 others(66): Show |
intron_variant | MODIFIER | c.11690-530A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38542817 | ||||||
| chr19:38542864
|
G | A | 1 | a0006c0007t0002g0213 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.11690-483G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38542864 | ||||||
| chr19:38543040
|
C | G | 24 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(21): Show | 24 | HG01070.hp1 HG01109.hp1 HG01169.hp1 others(21): Show |
intron_variant | MODIFIER | c.11690-307C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38543040 | ||||||
| chr19:38543112
|
A | G | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11690-235A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 84/105 | chr19 | 38543112 | ||||||
| chr19:38543682
|
G | A | 13 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(10): Show | 13 | HG00639.hp1 HG01255.hp2 HG01257.hp2 others(10): Show |
intron_variant | MODIFIER | c.11907+22G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 86/105 | chr19 | 38543682 | ||||||
| chr19:38543746
|
C | G | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11908-25C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 86/105 | chr19 | 38543746 | ||||||
| chr19:38543747
|
C | G | 2 | a0001c0068t0002g0209a0001c0119t0001g0189 | 2 | HG00642.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.11908-24C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 86/105 | chr19 | 38543747 | ||||||
| chr19:38543748
|
C | T | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11908-23C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 86/105 | chr19 | 38543748 | ||||||
| chr19:38543757
|
A | G | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.11908-14A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 86/105 | chr19 | 38543757 | ||||||
| chr19:38543893
|
C | A | 2 | a0001c0070t0001g0002a0028c0087t0001g0023 | 2 | HG02622.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.12012+18C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 87/105 | chr19 | 38543893 | ||||||
| chr19:38543894
|
T | C | 1 | a0001c0004t0001g0096 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.12012+19T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 87/105 | chr19 | 38543894 | ||||||
| chr19:38543944
|
GC | G | 8 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(5): Show | 8 | HG02647.hp2 HG02897.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.12012+73delC | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 87/105 | INFO_REALIGN_3_PRIME | chr19 | 38543944 | |||||
| chr19:38543972
|
G | A | 8 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(5): Show | 8 | HG00639.hp1 HG01255.hp2 HG01257.hp2 others(5): Show |
intron_variant | MODIFIER | c.12012+97G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 87/105 | chr19 | 38543972 | ||||||
| chr19:38544131
|
T | C | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.12012+256T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 87/105 | chr19 | 38544131 | ||||||
| chr19:38544196
|
T | C | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.12012+321T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 87/105 | chr19 | 38544196 | ||||||
| chr19:38544256
|
T | C | 2 | a0001c0068t0002g0209a0001c0119t0001g0189 | 2 | HG00642.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.12012+381T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 87/105 | chr19 | 38544256 | ||||||
| chr19:38544296
|
T | C | 2 | a0001c0071t0001g0186a0015c0086t0001g0019 | 2 | HG03130.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.12012+421T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 87/105 | chr19 | 38544296 | ||||||
| chr19:38544428
|
G | C | 24 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(21): Show | 24 | HG01070.hp1 HG01109.hp1 HG01169.hp1 others(21): Show |
intron_variant | MODIFIER | c.12012+553G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 87/105 | chr19 | 38544428 | ||||||
| chr19:38544619
|
C | T | 8 | a0001c0001t0001g0152a0001c0013t0001g0056a0001c0013t0001g0060others(5): Show | 8 | HG00438.hp2 HG00621.hp1 HG01123.hp2 others(5): Show |
intron_variant | MODIFIER | c.12012+744C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 87/105 | chr19 | 38544619 | ||||||
| chr19:38544630
|
A | G | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.12012+755A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 87/105 | chr19 | 38544630 | ||||||
| chr19:38544793
|
A | C | 1 | a0001c0069t0001g0139 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.12012+918A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 87/105 | chr19 | 38544793 | ||||||
| chr19:38545050
|
T | G | 2 | a0001c0071t0001g0186a0015c0086t0001g0019 | 2 | HG03130.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.12012+1175T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 87/105 | chr19 | 38545050 | ||||||
| chr19:38545165
|
T | C | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.12013-1280T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 87/105 | chr19 | 38545165 | ||||||
| chr19:38545172
|
A | G | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.12013-1273A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 87/105 | chr19 | 38545172 | ||||||
| chr19:38545186
|
T | C | 8 | a0001c0001t0001g0152a0001c0013t0001g0056a0001c0013t0001g0060others(5): Show | 8 | HG00438.hp2 HG00621.hp1 HG01123.hp2 others(5): Show |
intron_variant | MODIFIER | c.12013-1259T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 87/105 | chr19 | 38545186 | ||||||
| chr19:38545226
|
G | A | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.12013-1219G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 87/105 | chr19 | 38545226 | ||||||
| chr19:38545275
|
G | A | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.12013-1170G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 87/105 | chr19 | 38545275 | ||||||
| chr19:38545371
|
G | C | 84 | a0001c0001t0001g0152a0001c0009t0001g0199a0001c0009t0001g0200others(81): Show | 84 | HG00438.hp2 HG00609.hp1 HG00621.hp1 others(81): Show |
intron_variant | MODIFIER | c.12013-1074G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 87/105 | chr19 | 38545371 | ||||||
| chr19:38545486
|
C | T | 1 | a0018c0083t0002g0211 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.12013-959C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 87/105 | chr19 | 38545486 | ||||||
| chr19:38545551
|
A | G | 71 | a0001c0003t0002g0206a0001c0003t0002g0207a0001c0009t0001g0199others(68): Show | 71 | HG00609.hp1 HG00639.hp1 HG01070.hp1 others(68): Show |
intron_variant | MODIFIER | c.12013-894A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 87/105 | chr19 | 38545551 | ||||||
| chr19:38545681
|
G | A | 2 | a0001c0071t0001g0186a0015c0086t0001g0019 | 2 | HG03130.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.12013-764G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 87/105 | chr19 | 38545681 | ||||||
| chr19:38545705
|
A | G | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.12013-740A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 87/105 | chr19 | 38545705 | ||||||
| chr19:38545751
|
CA | C | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.12013-693delA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 87/105 | chr19 | 38545751 | ||||||
| chr19:38545753
|
G | T | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.12013-692G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 87/105 | chr19 | 38545753 | ||||||
| chr19:38545762
|
G | A | 8 | a0001c0001t0001g0152a0001c0013t0001g0056a0001c0013t0001g0060others(5): Show | 8 | HG00438.hp2 HG00621.hp1 HG01123.hp2 others(5): Show |
intron_variant | MODIFIER | c.12013-683G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 87/105 | chr19 | 38545762 | ||||||
| chr19:38545776
|
A | C | 4 | a0001c0062t0001g0050a0002c0025t0001g0162a0002c0025t0001g0170others(1): Show | 4 | HG00735.hp2 HG03669.hp2 HG03834.hp1 others(1): Show |
intron_variant | MODIFIER | c.12013-669A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 87/105 | chr19 | 38545776 | ||||||
| chr19:38545879
|
C | A | 1 | a0018c0083t0002g0211 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.12013-566C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 87/105 | chr19 | 38545879 | ||||||
| chr19:38545929
|
T | C | 26 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(23): Show | 26 | HG01070.hp1 HG01109.hp1 HG01169.hp1 others(23): Show |
intron_variant | MODIFIER | c.12013-516T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 87/105 | chr19 | 38545929 | ||||||
| chr19:38545942
|
G | A | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.12013-503G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 87/105 | chr19 | 38545942 | ||||||
| chr19:38546014
|
A | G | 25 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(22): Show | 25 | HG01070.hp1 HG01109.hp1 HG01169.hp1 others(22): Show |
intron_variant | MODIFIER | c.12013-431A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 87/105 | chr19 | 38546014 | ||||||
| chr19:38546030
|
C | T | 1 | a0018c0083t0002g0211 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.12013-415C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 87/105 | chr19 | 38546030 | ||||||
| chr19:38546177
|
C | T | 2 | a0001c0011t0001g0003a0001c0011t0001g0005 | 2 | HG02922.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.12013-268C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 87/105 | chr19 | 38546177 | ||||||
| chr19:38546258
|
A | C | 1 | a0001c0003t0001g0107 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.12013-187A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 87/105 | chr19 | 38546258 | ||||||
| chr19:38546274
|
C | A | 2 | a0019c0080t0001g0142a0020c0081t0001g0143 | 2 | HG02647.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.12013-171C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 87/105 | chr19 | 38546274 | ||||||
| chr19:38546313
|
A | T | 3 | a0008c0010t0001g0006a0008c0010t0001g0007a0008c0010t0001g0008 | 3 | HG02965.hp1 HG03139.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.12013-132A>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 87/105 | chr19 | 38546313 | ||||||
| chr19:38546326
|
C | G | 1 | a0001c0005t0001g0155 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.12013-119C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 87/105 | chr19 | 38546326 | ||||||
| chr19:38546398
|
G | T | 3 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201 | 3 | HG02735.hp2 HG03490.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.12013-47G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 87/105 | chr19 | 38546398 | ||||||
| chr19:38546537
|
A | G | 9 | a0001c0003t0002g0206a0001c0003t0002g0207a0001c0070t0001g0002others(6): Show | 9 | HG01891.hp1 HG02257.hp2 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.12094+11A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | chr19 | 38546537 | ||||||
| chr19:38546621
|
C | G | 10 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(7): Show | 10 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(7): Show |
intron_variant | MODIFIER | c.12094+95C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | chr19 | 38546621 | ||||||
| chr19:38546636
|
G | A | 6 | a0001c0054t0001g0136a0001c0062t0001g0050a0001c0110t0001g0157others(3): Show | 6 | HG00735.hp2 HG02630.hp2 HG03669.hp2 others(3): Show |
intron_variant | MODIFIER | c.12094+110G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | chr19 | 38546636 | ||||||
| chr19:38546662
|
G | A | 2 | a0001c0001t0001g0069a0001c0001t0001g0093 | 2 | HG04228.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.12094+136G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | chr19 | 38546662 | ||||||
| chr19:38546713
|
A | T | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.12094+187A>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | chr19 | 38546713 | ||||||
| chr19:38546718
|
G | C | 36 | a0001c0003t0002g0206a0001c0003t0002g0207a0001c0009t0001g0199others(33): Show | 36 | HG00639.hp1 HG01255.hp2 HG01257.hp2 others(33): Show |
intron_variant | MODIFIER | c.12094+192G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | chr19 | 38546718 | ||||||
| chr19:38546744
|
G | GAGTTTGA others(906): Show |
11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.12094+233_12094+23 others(917): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | 38546744 | |||||
| chr19:38546744
|
G | GAGTTTGA others(910): Show |
1 | a0001c0069t0001g0139 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.12094+233_12094+23 others(921): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | 38546744 | |||||
| chr19:38546744
|
G | GAGTTTGA others(908): Show |
1 | a0001c0062t0001g0050 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.12094+233_12094+23 others(919): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | 38546744 | |||||
| chr19:38546744
|
G | GAGTTTGA others(908): Show |
15 | a0001c0001t0001g0028a0001c0001t0001g0079a0001c0002t0001g0124others(12): Show | 15 | HG01123.hp1 HG01891.hp2 HG01978.hp2 others(12): Show |
intron_variant | MODIFIER | c.12094+233_12094+23 others(919): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | 38546744 | |||||
| chr19:38546744
|
G | GAGTTTGA others(909): Show |
1 | a0001c0002t0001g0091 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.12094+233_12094+23 others(920): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | 38546744 | |||||
| chr19:38546744
|
G | GAGTTTGA others(909): Show |
1 | a0001c0045t0001g0009 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.12094+233_12094+23 others(920): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | 38546744 | |||||
| chr19:38546744
|
G | GAGTTTGA others(906): Show |
2 | a0001c0001t0001g0018a0001c0001t0001g0147 | 2 | HG01975.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.12094+233_12094+23 others(917): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | 38546744 | |||||
| chr19:38546744
|
G | GAGTTTGA others(907): Show |
2 | a0002c0025t0001g0162a0002c0025t0001g0170 | 2 | HG03669.hp2 HG03834.hp1 |
intron_variant | MODIFIER | c.12094+233_12094+23 others(918): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | 38546744 | |||||
| chr19:38546744
|
G | GAGTTTGA others(907): Show |
120 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(117): Show | 120 | HG00438.hp1 HG00438.hp2 HG00609.hp2 others(117): Show |
intron_variant | MODIFIER | c.12094+233_12094+23 others(918): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | 38546744 | |||||
| chr19:38546744
|
G | GAGTTTGA others(907): Show |
1 | a0002c0012t0001g0166 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.12094+233_12094+23 others(918): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | 38546744 | |||||
| chr19:38546744
|
G | GAGTTTGA others(906): Show |
1 | a0001c0003t0001g0107 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.12094+233_12094+23 others(917): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | 38546744 | |||||
| chr19:38546744
|
G | GAGTTTGA others(908): Show |
11 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(8): Show | 11 | HG00639.hp1 HG01255.hp2 HG01257.hp2 others(8): Show |
intron_variant | MODIFIER | c.12094+233_12094+23 others(919): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | 38546744 | |||||
| chr19:38546744
|
G | GAGTTTGA others(909): Show |
2 | a0001c0019t0002g0218a0001c0105t0001g0089 | 2 | HG01175.hp2 NA19067.hp1 |
intron_variant | MODIFIER | c.12094+233_12094+23 others(920): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | 38546744 | |||||
| chr19:38546744
|
G | GAGTTTGA others(906): Show |
2 | a0004c0015t0001g0098a0012c0113t0001g0195 | 2 | NA19043.hp2 NA19065.hp2 |
intron_variant | MODIFIER | c.12094+233_12094+23 others(917): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | 38546744 | |||||
| chr19:38546744
|
G | GAGTTTGA others(907): Show |
1 | a0001c0027t0001g0059 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.12094+233_12094+23 others(918): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | 38546744 | |||||
| chr19:38546744
|
G | GAGTTTGA others(907): Show |
18 | a0001c0003t0002g0206a0001c0003t0002g0207a0001c0011t0001g0003others(15): Show | 18 | HG01433.hp1 HG01891.hp1 HG02257.hp2 others(15): Show |
intron_variant | MODIFIER | c.12094+233_12094+23 others(918): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | 38546744 | |||||
| chr19:38546744
|
G | GAGTTTGA others(907): Show |
1 | a0001c0070t0001g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.12094+233_12094+23 others(918): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | 38546744 | |||||
| chr19:38546744
|
G | GAGTTTGA others(908): Show |
1 | a0018c0083t0002g0211 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.12094+233_12094+23 others(919): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | 38546744 | |||||
| chr19:38546744
|
G | GAGTTTGA others(907): Show |
3 | a0001c0067t0001g0183a0004c0072t0001g0125a0007c0038t0002g0215 | 3 | HG01109.hp1 HG01169.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.12094+233_12094+23 others(918): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | 38546744 | |||||
| chr19:38546744
|
G | GAGTTTGA others(908): Show |
15 | a0001c0019t0002g0217a0001c0031t0001g0159a0001c0034t0001g0180others(12): Show | 15 | HG01070.hp1 HG01243.hp2 HG01943.hp2 others(12): Show |
intron_variant | MODIFIER | c.12094+233_12094+23 others(919): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | 38546744 | |||||
| chr19:38546744
|
G | GAGTTTGA others(907): Show |
4 | a0001c0022t0001g0051a0001c0022t0001g0052a0001c0029t0001g0074others(1): Show | 4 | NA18939.hp2 NA18955.hp1 NA18970.hp2 others(1): Show |
intron_variant | MODIFIER | c.12094+233_12094+23 others(918): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | 38546744 | |||||
| chr19:38546744
|
G | GAGTTTGA others(906): Show |
2 | a0001c0027t0001g0030a0028c0087t0001g0023 | 2 | HG01975.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.12094+233_12094+23 others(917): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | 38546744 | |||||
| chr19:38546744
|
G | GAGTTTGA others(912): Show |
1 | a0001c0001t0001g0070 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.12094+233_12094+23 others(923): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | 38546744 | |||||
| chr19:38546788
|
C | CA | 8 | a0001c0001t0001g0152a0001c0013t0001g0056a0001c0013t0001g0060others(5): Show | 8 | HG00438.hp2 HG00621.hp1 HG01123.hp2 others(5): Show |
intron_variant | MODIFIER | c.12094+262_12094+26 others(5): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | chr19 | 38546788 | ||||||
| chr19:38546789
|
T | A | 217 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(214): Show | 217 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(214): Show |
intron_variant | MODIFIER | c.12094+263T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | chr19 | 38546789 | ||||||
| chr19:38546876
|
C | T | 3 | a0001c0019t0002g0217a0001c0105t0001g0089a0030c0048t0001g0118 | 3 | HG01070.hp1 HG01175.hp2 HG03942.hp1 |
intron_variant | MODIFIER | c.12094+350C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | chr19 | 38546876 | ||||||
| chr19:38546877
|
G | A | 1 | a0009c0103t0001g0146 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.12094+351G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | chr19 | 38546877 | ||||||
| chr19:38547035
|
CT | C | 135 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(132): Show | 135 | HG00438.hp1 HG00609.hp2 HG00621.hp2 others(132): Show |
intron_variant | MODIFIER | c.12094+523delT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | 38547035 | |||||
| chr19:38547103
|
G | A | 3 | a0003c0050t0003g0035a0003c0093t0001g0078a0011c0121t0001g0086 | 3 | NA18964.hp1 NA18983.hp2 NA19057.hp2 |
intron_variant | MODIFIER | c.12094+577G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | chr19 | 38547103 | ||||||
| chr19:38547125
|
C | T | 1 | a0001c0049t0003g0033 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.12094+599C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | chr19 | 38547125 | ||||||
| chr19:38547165
|
G | A | 35 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(32): Show | 35 | HG00609.hp1 HG01070.hp1 HG01071.hp2 others(32): Show |
intron_variant | MODIFIER | c.12094+639G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | chr19 | 38547165 | ||||||
| chr19:38547184
|
G | A | 2 | a0001c0067t0001g0183a0004c0072t0001g0125 | 2 | HG01109.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.12094+658G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | chr19 | 38547184 | ||||||
| chr19:38547205
|
A | AT | 40 | a0001c0001t0001g0026a0001c0003t0001g0100a0001c0004t0001g0096others(37): Show | 40 | HG00438.hp2 HG00639.hp1 HG01070.hp1 others(37): Show |
intron_variant | MODIFIER | c.12094+698dupT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | 38547205 | |||||
| chr19:38547205
|
A | ATT | 15 | a0001c0022t0001g0051a0001c0067t0001g0183a0001c0069t0001g0139others(12): Show | 15 | HG00609.hp1 HG01071.hp2 HG01169.hp1 others(12): Show |
intron_variant | MODIFIER | c.12094+697_12094+69 others(6): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | 38547205 | |||||
| chr19:38547205
|
AT | A | 6 | a0001c0003t0002g0206a0001c0003t0002g0207a0001c0070t0001g0002others(3): Show | 6 | HG02615.hp1 HG02622.hp1 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.12094+698delT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | 38547205 | |||||
| chr19:38547342
|
C | T | 2 | a0001c0068t0002g0209a0001c0119t0001g0189 | 2 | HG00642.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.12094+816C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | chr19 | 38547342 | ||||||
| chr19:38547518
|
T | C | 24 | a0001c0003t0002g0206a0001c0003t0002g0207a0001c0011t0001g0003others(21): Show | 24 | HG01433.hp1 HG01891.hp1 HG01975.hp2 others(21): Show |
intron_variant | MODIFIER | c.12095-715T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | chr19 | 38547518 | ||||||
| chr19:38547524
|
T | C | 27 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(24): Show | 27 | HG01070.hp1 HG01109.hp1 HG01169.hp1 others(24): Show |
intron_variant | MODIFIER | c.12095-709T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | chr19 | 38547524 | ||||||
| chr19:38547586
|
A | G | 2 | a0001c0003t0001g0116a0026c0046t0001g0127 | 2 | HG00735.hp1 HG02698.hp2 |
intron_variant | MODIFIER | c.12095-647A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | chr19 | 38547586 | ||||||
| chr19:38547614
|
A | G | 38 | a0001c0003t0002g0206a0001c0003t0002g0207a0001c0011t0001g0003others(35): Show | 38 | HG00609.hp1 HG01071.hp2 HG01433.hp1 others(35): Show |
intron_variant | MODIFIER | c.12095-619A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | chr19 | 38547614 | ||||||
| chr19:38547638
|
G | C | 1 | a0018c0083t0002g0211 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.12095-595G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | chr19 | 38547638 | ||||||
| chr19:38547718
|
C | CT | 36 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(33): Show | 36 | HG00609.hp1 HG01070.hp1 HG01071.hp2 others(33): Show |
intron_variant | MODIFIER | c.12095-500dupT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | 38547718 | |||||
| chr19:38547718
|
CT | C | 28 | a0001c0003t0002g0206a0001c0003t0002g0207a0001c0011t0001g0003others(25): Show | 28 | HG01433.hp1 HG01884.hp1 HG01891.hp1 others(25): Show |
intron_variant | MODIFIER | c.12095-500delT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | 38547718 | |||||
| chr19:38547819
|
T | C | 1 | a0003c0006t0001g0057 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.12095-414T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | chr19 | 38547819 | ||||||
| chr19:38547851
|
A | T | 59 | a0001c0003t0002g0206a0001c0003t0002g0207a0001c0011t0001g0003others(56): Show | 59 | HG00609.hp1 HG01070.hp1 HG01071.hp2 others(56): Show |
intron_variant | MODIFIER | c.12095-382A>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | chr19 | 38547851 | ||||||
| chr19:38547925
|
C | G | 8 | a0001c0001t0001g0152a0001c0013t0001g0056a0001c0013t0001g0060others(5): Show | 8 | HG00438.hp2 HG00621.hp1 HG01123.hp2 others(5): Show |
intron_variant | MODIFIER | c.12095-308C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | chr19 | 38547925 | ||||||
| chr19:38548075
|
G | A | 1 | a0001c0054t0001g0136 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.12095-158G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | chr19 | 38548075 | ||||||
| chr19:38548104
|
G | C | 22 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(19): Show | 22 | HG01433.hp1 HG01891.hp1 HG01975.hp2 others(19): Show |
intron_variant | MODIFIER | c.12095-129G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | chr19 | 38548104 | ||||||
| chr19:38548204
|
C | T | 1 | a0020c0081t0001g0143 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.12095-29C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | chr19 | 38548204 | ||||||
| chr19:38548512
|
A | G | 12 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(9): Show | 12 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(9): Show |
intron_variant | MODIFIER | c.12282+92A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38548512 | ||||||
| chr19:38549131
|
C | G | 1 | a0018c0083t0002g0211 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.12282+711C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38549131 | ||||||
| chr19:38549502
|
C | A | 12 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(9): Show | 12 | HG00639.hp1 HG01255.hp2 HG01257.hp2 others(9): Show |
intron_variant | MODIFIER | c.12282+1082C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38549502 | ||||||
| chr19:38549513
|
G | A | 1 | a0001c0105t0001g0089 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.12282+1093G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38549513 | ||||||
| chr19:38549544
|
A | C | 85 | a0001c0001t0001g0152a0001c0009t0001g0199a0001c0009t0001g0200others(82): Show | 85 | HG00438.hp2 HG00609.hp1 HG00621.hp1 others(82): Show |
intron_variant | MODIFIER | c.12282+1124A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38549544 | ||||||
| chr19:38549658
|
C | T | 1 | a0001c0116t0001g0121 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.12282+1238C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38549658 | ||||||
| chr19:38549698
|
C | CT | 12 | a0001c0009t0001g0199a0001c0009t0001g0201a0001c0018t0001g0160others(9): Show | 12 | HG00639.hp1 HG01255.hp2 HG01257.hp2 others(9): Show |
intron_variant | MODIFIER | c.12282+1302dupT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38549698 | |||||
| chr19:38549698
|
CT | C | 137 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0018others(134): Show | 137 | HG00438.hp1 HG00438.hp2 HG00609.hp2 others(134): Show |
intron_variant | MODIFIER | c.12282+1302delT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38549698 | |||||
| chr19:38549698
|
CTT | C | 14 | a0001c0023t0001g0109a0001c0028t0001g0068a0001c0030t0001g0054others(11): Show | 14 | HG02622.hp1 HG03017.hp1 HG03130.hp2 others(11): Show |
intron_variant | MODIFIER | c.12282+1301_12282+1 others(8): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38549698 | |||||
| chr19:38549716
|
T | G | 3 | a0001c0001t0001g0070a0001c0001t0001g0077a0009c0104t0001g0013 | 3 | HG01106.hp1 HG01106.hp2 HG01934.hp2 |
intron_variant | MODIFIER | c.12282+1296T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38549716 | ||||||
| chr19:38549765
|
G | T | 1 | a0001c0085t0001g0198 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.12282+1345G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38549765 | ||||||
| chr19:38549875
|
T | G | 1 | a0004c0047t0002g0205 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.12282+1455T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38549875 | ||||||
| chr19:38549875
|
T | TG | 2 | a0001c0002t0001g0124a0001c0036t0001g0111 | 2 | HG02027.hp2 HG02698.hp1 |
intron_variant | MODIFIER | c.12282+1455_12282+1 others(7): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38549875 | ||||||
| chr19:38549875
|
T | TTG | 33 | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0022others(30): Show | 33 | HG00621.hp2 HG00733.hp2 HG00735.hp1 others(30): Show |
intron_variant | MODIFIER | c.12282+1505_12282+1 others(8): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38549875 | |||||
| chr19:38549875
|
T | TTGTG | 16 | a0001c0001t0001g0015a0001c0023t0001g0110a0001c0044t0001g0048others(13): Show | 16 | HG01099.hp1 HG01433.hp2 HG02155.hp2 others(13): Show |
intron_variant | MODIFIER | c.12282+1503_12282+1 others(10): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38549875 | |||||
| chr19:38549875
|
T | TTGTGTG | 5 | a0001c0001t0001g0058a0001c0028t0001g0068a0001c0082t0001g0027others(2): Show | 5 | HG02293.hp2 HG02970.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.12282+1501_12282+1 others(12): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38549875 | |||||
| chr19:38549875
|
T | TTGTGTGT others(1): Show |
4 | a0001c0014t0001g0025a0001c0020t0001g0185a0001c0085t0001g0198others(1): Show | 4 | HG02027.hp1 HG02109.hp1 HG02257.hp1 others(1): Show |
intron_variant | MODIFIER | c.12282+1499_12282+1 others(14): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38549875 | |||||
| chr19:38549875
|
T | TTGTGTGT others(3): Show |
2 | a0001c0003t0002g0206a0001c0059t0001g0184 | 2 | HG02615.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.12282+1497_12282+1 others(16): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38549875 | |||||
| chr19:38549875
|
TTG | T | 29 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0043others(26): Show | 29 | HG00642.hp1 HG01070.hp2 HG01071.hp1 others(26): Show |
intron_variant | MODIFIER | c.12282+1505_12282+1 others(8): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38549875 | |||||
| chr19:38549875
|
TTGTG | T | 33 | a0001c0001t0001g0028a0001c0001t0001g0040a0001c0001t0001g0077others(30): Show | 33 | HG00621.hp1 HG00735.hp2 HG01071.hp2 others(30): Show |
intron_variant | MODIFIER | c.12282+1503_12282+1 others(10): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38549875 | |||||
| chr19:38549875
|
TTGTGTG | T | 9 | a0001c0001t0001g0145a0001c0069t0001g0139a0001c0105t0001g0089others(6): Show | 9 | HG01070.hp1 HG01175.hp2 HG01943.hp1 others(6): Show |
intron_variant | MODIFIER | c.12282+1501_12282+1 others(12): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38549875 | |||||
| chr19:38549875
|
TTGTGTGT others(1): Show |
T | 20 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(17): Show | 20 | HG00438.hp2 HG00609.hp1 HG00639.hp1 others(17): Show |
intron_variant | MODIFIER | c.12282+1499_12282+1 others(14): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38549875 | |||||
| chr19:38549875
|
TTGTGTGT others(3): Show |
T | 4 | a0001c0116t0001g0121a0003c0050t0003g0035a0003c0093t0001g0078others(1): Show | 4 | HG02015.hp1 NA18964.hp1 NA18983.hp2 others(1): Show |
intron_variant | MODIFIER | c.12282+1497_12282+1 others(16): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38549875 | |||||
| chr19:38549875
|
TTGTGTGT others(5): Show |
T | 6 | a0001c0056t0001g0135a0001c0068t0002g0209a0001c0070t0001g0002others(3): Show | 6 | HG00642.hp2 HG01884.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.12282+1495_12282+1 others(18): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38549875 | |||||
| chr19:38549875
|
TTGTGTGT others(7): Show |
T | 8 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(5): Show | 8 | HG02647.hp2 HG02897.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.12282+1493_12282+1 others(20): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38549875 | |||||
| chr19:38549875
|
TTGTGTGT others(9): Show |
T | 3 | a0008c0010t0001g0006a0008c0010t0001g0007a0008c0010t0001g0008 | 3 | HG02965.hp1 HG03139.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.12282+1491_12282+1 others(22): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38549875 | |||||
| chr19:38549875
|
TTGTGTGT others(11): Show |
T | 1 | a0014c0073t0001g0126 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.12282+1489_12282+1 others(24): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38549875 | |||||
| chr19:38549875
|
TTGTGTGT others(15): Show |
T | 7 | a0001c0027t0001g0030a0001c0027t0001g0059a0001c0096t0001g0090others(4): Show | 7 | HG01433.hp1 HG01891.hp1 HG01975.hp2 others(4): Show |
intron_variant | MODIFIER | c.12282+1485_12282+1 others(28): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38549875 | |||||
| chr19:38550048
|
G | A | 12 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(9): Show | 12 | HG02559.hp2 HG02647.hp2 HG02897.hp2 others(9): Show |
intron_variant | MODIFIER | c.12282+1628G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38550048 | ||||||
| chr19:38550618
|
C | T | 1 | a0001c0102t0001g0065 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.12282+2198C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38550618 | ||||||
| chr19:38550639
|
G | C | 8 | a0001c0001t0001g0152a0001c0013t0001g0056a0001c0013t0001g0060others(5): Show | 8 | HG00438.hp2 HG00621.hp1 HG01123.hp2 others(5): Show |
intron_variant | MODIFIER | c.12282+2219G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38550639 | ||||||
| chr19:38550681
|
C | T | 4 | a0001c0069t0001g0139a0004c0115t0004g0216a0007c0039t0001g0031others(1): Show | 4 | HG02630.hp1 HG02970.hp1 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.12282+2261C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38550681 | ||||||
| chr19:38550837
|
T | G | 126 | a0001c0001t0001g0058a0001c0001t0001g0152a0001c0003t0002g0206others(123): Show | 126 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(123): Show |
intron_variant | MODIFIER | c.12282+2417T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38550837 | ||||||
| chr19:38550910
|
C | T | 3 | a0004c0015t0001g0098a0004c0015t0001g0187a0004c0015t0001g0188 | 3 | HG01884.hp1 HG02615.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.12282+2490C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38550910 | ||||||
| chr19:38551025
|
C | CT | 34 | a0001c0001t0001g0015a0001c0001t0001g0022a0001c0001t0001g0039others(31): Show | 34 | HG00639.hp2 HG00642.hp1 HG01243.hp1 others(31): Show |
intron_variant | MODIFIER | c.12282+2644dupT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38551025 | |||||
| chr19:38551025
|
C | CTT | 20 | a0001c0001t0001g0016a0001c0001t0001g0028a0001c0001t0001g0058others(17): Show | 20 | HG00735.hp1 HG01106.hp1 HG01106.hp2 others(17): Show |
intron_variant | MODIFIER | c.12282+2643_12282+2 others(8): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38551025 | |||||
| chr19:38551025
|
C | CTTT | 7 | a0001c0005t0001g0176a0001c0028t0001g0182a0001c0075t0001g0165others(4): Show | 7 | HG00438.hp1 HG00621.hp2 HG00733.hp2 others(4): Show |
intron_variant | MODIFIER | c.12282+2642_12282+2 others(9): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38551025 | |||||
| chr19:38551025
|
C | CTTTTTT | 6 | a0001c0001t0001g0152a0001c0013t0001g0056a0001c0013t0001g0060others(3): Show | 6 | HG00438.hp2 HG01123.hp2 HG03710.hp1 others(3): Show |
intron_variant | MODIFIER | c.12282+2639_12282+2 others(12): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38551025 | |||||
| chr19:38551025
|
C | CTTTTTTT others(4): Show |
2 | a0004c0015t0001g0098a0004c0015t0001g0188 | 2 | HG01884.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.12282+2634_12282+2 others(17): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38551025 | |||||
| chr19:38551025
|
C | CTTTTTTT others(6): Show |
1 | a0004c0015t0001g0187 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.12282+2632_12282+2 others(19): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38551025 | |||||
| chr19:38551025
|
CT | C | 8 | a0001c0001t0001g0014a0001c0001t0001g0069a0001c0001t0001g0093others(5): Show | 8 | HG01257.hp1 HG01981.hp2 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.12282+2644delT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38551025 | |||||
| chr19:38551025
|
CTTT | C | 7 | a0001c0009t0001g0200a0001c0009t0001g0201a0001c0018t0001g0160others(4): Show | 7 | HG00639.hp1 HG01255.hp2 HG01257.hp2 others(4): Show |
intron_variant | MODIFIER | c.12282+2642_12282+2 others(9): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38551025 | |||||
| chr19:38551025
|
CTTTTTTT others(4): Show |
C | 1 | a0001c0001t0001g0026 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.12282+2634_12282+2 others(17): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38551025 | |||||
| chr19:38551025
|
CTTTTTTT others(5): Show |
C | 1 | a0005c0016t0001g0123 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.12282+2633_12282+2 others(18): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38551025 | |||||
| chr19:38551025
|
CTTTTTTT others(6): Show |
C | 17 | a0001c0019t0002g0218a0001c0022t0001g0051a0001c0022t0001g0052others(14): Show | 17 | HG01243.hp2 HG01943.hp2 HG02015.hp1 others(14): Show |
intron_variant | MODIFIER | c.12282+2632_12282+2 others(19): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38551025 | |||||
| chr19:38551025
|
CTTTTTTT others(7): Show |
C | 6 | a0001c0019t0002g0217a0001c0035t0001g0113a0001c0105t0001g0089others(3): Show | 6 | HG01070.hp1 HG01109.hp1 HG01175.hp2 others(3): Show |
intron_variant | MODIFIER | c.12282+2631_12282+2 others(20): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38551025 | |||||
| chr19:38551025
|
CTTTTTTT others(8): Show |
C | 12 | a0001c0067t0001g0183a0003c0006t0001g0045a0003c0006t0001g0057others(9): Show | 12 | HG00609.hp1 HG01071.hp2 HG01169.hp1 others(9): Show |
intron_variant | MODIFIER | c.12282+2630_12282+2 others(21): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38551025 | |||||
| chr19:38551025
|
CTTTTTTT others(9): Show |
C | 12 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(9): Show | 12 | HG01099.hp2 HG01123.hp1 HG01433.hp2 others(9): Show |
intron_variant | MODIFIER | c.12282+2629_12282+2 others(22): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38551025 | |||||
| chr19:38551025
|
CTTTTTTT others(10): Show |
C | 2 | a0001c0005t0001g0179a0002c0012t0001g0168 | 2 | HG01256.hp1 HG02735.hp1 |
intron_variant | MODIFIER | c.12282+2628_12282+2 others(23): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38551025 | |||||
| chr19:38551025
|
CTTTTTTT others(11): Show |
C | 7 | a0001c0054t0001g0136a0001c0062t0001g0050a0001c0110t0001g0157others(4): Show | 7 | HG00735.hp2 HG02630.hp2 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.12282+2627_12282+2 others(24): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38551025 | |||||
| chr19:38551025
|
CTTTTTTT others(12): Show |
C | 10 | a0001c0027t0001g0059a0001c0056t0001g0135a0001c0070t0001g0002others(7): Show | 10 | HG01891.hp1 HG01981.hp1 HG02257.hp2 others(7): Show |
intron_variant | MODIFIER | c.12282+2626_12282+2 others(25): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38551025 | |||||
| chr19:38551025
|
CTTTTTTT others(13): Show |
C | 10 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0027t0001g0030others(7): Show | 10 | HG01433.hp1 HG01975.hp2 HG02897.hp2 others(7): Show |
intron_variant | MODIFIER | c.12282+2625_12282+2 others(26): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38551025 | |||||
| chr19:38551025
|
CTTTTTTT others(14): Show |
C | 1 | a0001c0011t0001g0021 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.12282+2624_12282+2 others(27): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38551025 | |||||
| chr19:38551070
|
G | A | 2 | a0001c0071t0001g0186a0015c0086t0001g0019 | 2 | HG03130.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.12282+2650G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38551070 | ||||||
| chr19:38551274
|
C | T | 1 | a0002c0078t0001g0130 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.12282+2854C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38551274 | ||||||
| chr19:38551329
|
C | T | 2 | a0001c0071t0001g0186a0015c0086t0001g0019 | 2 | HG03130.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.12282+2909C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38551329 | ||||||
| chr19:38551392
|
T | C | 4 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(1): Show | 4 | HG01070.hp2 HG01071.hp1 HG03490.hp1 others(1): Show |
intron_variant | MODIFIER | c.12282+2972T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38551392 | ||||||
| chr19:38551670
|
T | C | 1 | a0004c0072t0001g0125 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.12282+3250T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38551670 | ||||||
| chr19:38551997
|
G | T | 2 | a0001c0068t0002g0209a0001c0119t0001g0189 | 2 | HG00642.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.12282+3577G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38551997 | ||||||
| chr19:38552089
|
A | G | 1 | a0001c0069t0001g0139 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.12282+3669A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38552089 | ||||||
| chr19:38552109
|
G | A | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.12282+3689G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38552109 | ||||||
| chr19:38552114
|
C | A | 216 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(213): Show | 216 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(213): Show |
intron_variant | MODIFIER | c.12282+3694C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38552114 | ||||||
| chr19:38552117
|
T | A | 2 | a0001c0028t0001g0182a0001c0085t0001g0198 | 2 | HG00621.hp2 HG02027.hp1 |
intron_variant | MODIFIER | c.12282+3697T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38552117 | ||||||
| chr19:38552232
|
A | T | 2 | a0001c0001t0001g0022a0033c0043t0002g0208 | 2 | HG02809.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.12282+3812A>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38552232 | ||||||
| chr19:38552442
|
C | CG | 8 | a0001c0001t0001g0152a0001c0013t0001g0056a0001c0013t0001g0060others(5): Show | 8 | HG00438.hp2 HG00621.hp1 HG01123.hp2 others(5): Show |
intron_variant | MODIFIER | c.12282+4025dupG | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38552442 | |||||
| chr19:38552444
|
G | A | 2 | a0001c0070t0001g0002a0028c0087t0001g0023 | 2 | HG02622.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.12282+4024G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38552444 | ||||||
| chr19:38552473
|
G | A | 1 | a0001c0067t0001g0183 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.12282+4053G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38552473 | ||||||
| chr19:38552679
|
A | G | 3 | a0004c0015t0001g0098a0004c0015t0001g0187a0004c0015t0001g0188 | 3 | HG01884.hp1 HG02615.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.12282+4259A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38552679 | ||||||
| chr19:38552933
|
A | C | 1 | a0012c0113t0001g0195 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.12282+4513A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38552933 | ||||||
| chr19:38552946
|
C | A | 5 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(2): Show | 5 | HG00639.hp2 HG01070.hp2 HG01071.hp1 others(2): Show |
intron_variant | MODIFIER | c.12282+4526C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38552946 | ||||||
| chr19:38553006
|
T | C | 8 | a0001c0001t0001g0152a0001c0013t0001g0056a0001c0013t0001g0060others(5): Show | 8 | HG00438.hp2 HG00621.hp1 HG01123.hp2 others(5): Show |
intron_variant | MODIFIER | c.12282+4586T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38553006 | ||||||
| chr19:38553291
|
C | T | 1 | a0001c0110t0001g0157 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.12282+4871C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38553291 | ||||||
| chr19:38553307
|
C | G | 2 | a0001c0001t0001g0040a0001c0001t0001g0075 | 2 | HG03490.hp1 NA20805.hp2 |
intron_variant | MODIFIER | c.12282+4887C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38553307 | ||||||
| chr19:38553334
|
C | CA | 17 | a0001c0001t0001g0070a0001c0002t0001g0091a0001c0003t0001g0100others(14): Show | 17 | HG00438.hp1 HG01109.hp2 HG01175.hp1 others(14): Show |
intron_variant | MODIFIER | c.12282+4933dupA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38553334 | |||||
| chr19:38553334
|
CA | C | 12 | a0001c0001t0001g0152a0001c0013t0001g0056a0001c0013t0001g0115others(9): Show | 12 | HG00621.hp1 HG01109.hp1 HG01123.hp2 others(9): Show |
intron_variant | MODIFIER | c.12282+4933delA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38553334 | |||||
| chr19:38553479
|
T | TA | 73 | a0001c0001t0001g0039a0001c0009t0001g0199a0001c0009t0001g0200others(70): Show | 73 | HG00609.hp1 HG00639.hp1 HG01071.hp2 others(70): Show |
intron_variant | MODIFIER | c.12282+5072dupA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38553479 | |||||
| chr19:38553562
|
G | A | 3 | a0004c0015t0001g0098a0004c0015t0001g0187a0004c0015t0001g0188 | 3 | HG01884.hp1 HG02615.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.12282+5142G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38553562 | ||||||
| chr19:38553785
|
A | G | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.12282+5365A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38553785 | ||||||
| chr19:38553852
|
C | T | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.12282+5432C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38553852 | ||||||
| chr19:38553913
|
T | C | 1 | a0001c0056t0001g0135 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.12282+5493T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38553913 | ||||||
| chr19:38553934
|
G | A | 2 | a0004c0072t0001g0125a0007c0038t0002g0215 | 2 | HG01109.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.12282+5514G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38553934 | ||||||
| chr19:38554127
|
G | GC | 2 | a0001c0070t0001g0002a0028c0087t0001g0023 | 2 | HG02622.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.12282+5707_12282+5 others(7): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38554127 | ||||||
| chr19:38554325
|
A | ACCTGTAA others(881): Show |
1 | a0001c0009t0001g0201 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.12282+5914_12282+5 others(894): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38554325 | |||||
| chr19:38554325
|
A | ACCTGTAA others(882): Show |
212 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(209): Show | 212 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(209): Show |
intron_variant | MODIFIER | c.12282+5914_12282+5 others(895): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38554325 | |||||
| chr19:38554325
|
A | ACCTGTAA others(882): Show |
1 | a0001c0003t0001g0116 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.12282+5914_12282+5 others(895): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38554325 | |||||
| chr19:38554325
|
A | ACCTGTAA others(882): Show |
2 | a0001c0071t0001g0186a0015c0086t0001g0019 | 2 | HG03130.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.12282+5914_12282+5 others(895): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38554325 | |||||
| chr19:38554325
|
A | ACCTGTAA others(882): Show |
1 | a0001c0094t0001g0066 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.12282+5914_12282+5 others(895): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38554325 | |||||
| chr19:38554341
|
G | A | 217 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(214): Show | 217 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(214): Show |
intron_variant | MODIFIER | c.12282+5921G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38554341 | ||||||
| chr19:38554355
|
G | A | 3 | a0004c0015t0001g0098a0004c0015t0001g0187a0004c0015t0001g0188 | 3 | HG01884.hp1 HG02615.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.12282+5935G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38554355 | ||||||
| chr19:38554368
|
T | G | 8 | a0001c0001t0001g0152a0001c0013t0001g0056a0001c0013t0001g0060others(5): Show | 8 | HG00438.hp2 HG00621.hp1 HG01123.hp2 others(5): Show |
intron_variant | MODIFIER | c.12282+5948T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38554368 | ||||||
| chr19:38554455
|
GA | G | 8 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(5): Show | 8 | HG00639.hp1 HG01255.hp2 HG01257.hp2 others(5): Show |
intron_variant | MODIFIER | c.12282+6045delA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38554455 | |||||
| chr19:38555023
|
C | T | 1 | a0001c0054t0001g0136 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.12283-6090C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38555023 | ||||||
| chr19:38555081
|
C | T | 24 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(21): Show | 24 | HG01070.hp1 HG01109.hp1 HG01169.hp1 others(21): Show |
intron_variant | MODIFIER | c.12283-6032C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38555081 | ||||||
| chr19:38555156
|
T | C | 1 | a0001c0110t0001g0157 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.12283-5957T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38555156 | ||||||
| chr19:38555270
|
G | C | 3 | a0008c0010t0001g0006a0008c0010t0001g0007a0008c0010t0001g0008 | 3 | HG02965.hp1 HG03139.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.12283-5843G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38555270 | ||||||
| chr19:38555446
|
C | CA | 7 | a0001c0002t0001g0091a0001c0068t0002g0209a0001c0071t0001g0186others(4): Show | 7 | HG00642.hp2 HG03130.hp1 HG03209.hp1 others(4): Show |
intron_variant | MODIFIER | c.12283-5648dupA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38555446 | |||||
| chr19:38555446
|
CA | C | 46 | a0001c0001t0001g0145a0001c0002t0001g0133a0001c0009t0001g0201others(43): Show | 46 | HG01070.hp1 HG01109.hp1 HG01169.hp1 others(43): Show |
intron_variant | MODIFIER | c.12283-5648delA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38555446 | |||||
| chr19:38555475
|
G | A | 7 | a0001c0027t0001g0030a0001c0027t0001g0059a0001c0096t0001g0090others(4): Show | 7 | HG01433.hp1 HG01891.hp1 HG01975.hp2 others(4): Show |
intron_variant | MODIFIER | c.12283-5638G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38555475 | ||||||
| chr19:38555484
|
C | T | 2 | a0001c0003t0001g0116a0026c0046t0001g0127 | 2 | HG00735.hp1 HG02698.hp2 |
intron_variant | MODIFIER | c.12283-5629C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38555484 | ||||||
| chr19:38555496
|
T | C | 8 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(5): Show | 8 | HG00639.hp1 HG01255.hp2 HG01257.hp2 others(5): Show |
intron_variant | MODIFIER | c.12283-5617T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38555496 | ||||||
| chr19:38555553
|
C | T | 1 | a0002c0079t0001g0173 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.12283-5560C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38555553 | ||||||
| chr19:38555733
|
A | C | 2 | a0001c0071t0001g0186a0015c0086t0001g0019 | 2 | HG03130.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.12283-5380A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38555733 | ||||||
| chr19:38555928
|
A | G | 2 | a0001c0071t0001g0186a0015c0086t0001g0019 | 2 | HG03130.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.12283-5185A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38555928 | ||||||
| chr19:38555999
|
G | C | 8 | a0001c0001t0001g0152a0001c0013t0001g0056a0001c0013t0001g0060others(5): Show | 8 | HG00438.hp2 HG00621.hp1 HG01123.hp2 others(5): Show |
intron_variant | MODIFIER | c.12283-5114G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38555999 | ||||||
| chr19:38556031
|
T | G | 7 | a0001c0027t0001g0030a0001c0027t0001g0059a0001c0096t0001g0090others(4): Show | 7 | HG01433.hp1 HG01891.hp1 HG01975.hp2 others(4): Show |
intron_variant | MODIFIER | c.12283-5082T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38556031 | ||||||
| chr19:38556079
|
G | A | 57 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(54): Show | 57 | HG00609.hp1 HG01070.hp1 HG01071.hp2 others(54): Show |
intron_variant | MODIFIER | c.12283-5034G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38556079 | ||||||
| chr19:38556463
|
C | G | 1 | a0001c0069t0001g0139 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.12283-4650C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38556463 | ||||||
| chr19:38556464
|
T | A | 84 | a0001c0001t0001g0152a0001c0009t0001g0199a0001c0009t0001g0200others(81): Show | 84 | HG00438.hp2 HG00609.hp1 HG00621.hp1 others(81): Show |
intron_variant | MODIFIER | c.12283-4649T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38556464 | ||||||
| chr19:38556479
|
TA | T | 35 | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0079others(32): Show | 35 | HG00438.hp1 HG00621.hp2 HG00733.hp1 others(32): Show |
intron_variant | MODIFIER | c.12283-4620delA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38556479 | |||||
| chr19:38556510
|
C | T | 2 | a0001c0071t0001g0186a0015c0086t0001g0019 | 2 | HG03130.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.12283-4603C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38556510 | ||||||
| chr19:38556788
|
A | C | 2 | a0001c0013t0001g0056a0001c0013t0001g0060 | 2 | HG00438.hp2 NA19063.hp1 |
intron_variant | MODIFIER | c.12283-4325A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38556788 | ||||||
| chr19:38556817
|
G | A | 1 | a0024c0061t0001g0044 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.12283-4296G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38556817 | ||||||
| chr19:38556879
|
C | G | 8 | a0001c0001t0001g0152a0001c0013t0001g0056a0001c0013t0001g0060others(5): Show | 8 | HG00438.hp2 HG00621.hp1 HG01123.hp2 others(5): Show |
intron_variant | MODIFIER | c.12283-4234C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38556879 | ||||||
| chr19:38556961
|
C | T | 1 | a0001c0001t0001g0079 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.12283-4152C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38556961 | ||||||
| chr19:38557024
|
G | A | 1 | a0001c0070t0001g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.12283-4089G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38557024 | ||||||
| chr19:38557051
|
C | CT | 169 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(166): Show | 169 | HG00438.hp1 HG00609.hp2 HG00621.hp1 others(166): Show |
intron_variant | MODIFIER | c.12283-4042dupT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38557051 | |||||
| chr19:38557051
|
C | CTT | 40 | a0001c0002t0001g0124a0001c0002t0001g0133a0001c0002t0001g0194others(37): Show | 40 | HG00438.hp2 HG00609.hp1 HG00642.hp2 others(37): Show |
intron_variant | MODIFIER | c.12283-4043_12283-4 others(8): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38557051 | |||||
| chr19:38557156
|
C | A | 1 | a0001c0063t0001g0049 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.12283-3957C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38557156 | ||||||
| chr19:38557272
|
G | A | 4 | a0001c0068t0002g0209a0001c0071t0001g0186a0001c0119t0001g0189others(1): Show | 4 | HG00642.hp2 HG03130.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.12283-3841G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38557272 | ||||||
| chr19:38557391
|
T | C | 2 | a0001c0069t0001g0139a0007c0039t0001g0031 | 2 | HG02970.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.12283-3722T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38557391 | ||||||
| chr19:38557489
|
A | C | 24 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(21): Show | 24 | HG01070.hp1 HG01109.hp1 HG01169.hp1 others(21): Show |
intron_variant | MODIFIER | c.12283-3624A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38557489 | ||||||
| chr19:38557523
|
C | A | 60 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(57): Show | 60 | HG00609.hp1 HG01070.hp1 HG01071.hp2 others(57): Show |
intron_variant | MODIFIER | c.12283-3590C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38557523 | ||||||
| chr19:38557548
|
C | G | 1 | a0022c0060t0001g0112 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.12283-3565C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38557548 | ||||||
| chr19:38557679
|
C | T | 1 | a0009c0104t0001g0013 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.12283-3434C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38557679 | ||||||
| chr19:38557928
|
C | T | 84 | a0001c0001t0001g0152a0001c0009t0001g0199a0001c0009t0001g0200others(81): Show | 84 | HG00438.hp2 HG00609.hp1 HG00621.hp1 others(81): Show |
intron_variant | MODIFIER | c.12283-3185C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38557928 | ||||||
| chr19:38557974
|
T | C | 2 | a0001c0068t0002g0209a0001c0119t0001g0189 | 2 | HG00642.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.12283-3139T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38557974 | ||||||
| chr19:38557998
|
C | A | 84 | a0001c0001t0001g0152a0001c0009t0001g0199a0001c0009t0001g0200others(81): Show | 84 | HG00438.hp2 HG00609.hp1 HG00621.hp1 others(81): Show |
intron_variant | MODIFIER | c.12283-3115C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38557998 | ||||||
| chr19:38558008
|
T | A | 2 | a0001c0013t0001g0056a0001c0013t0001g0060 | 2 | HG00438.hp2 NA19063.hp1 |
intron_variant | MODIFIER | c.12283-3105T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38558008 | ||||||
| chr19:38558036
|
C | T | 2 | a0001c0068t0002g0209a0001c0119t0001g0189 | 2 | HG00642.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.12283-3077C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38558036 | ||||||
| chr19:38558171
|
G | A | 1 | a0001c0094t0001g0066 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.12283-2942G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38558171 | ||||||
| chr19:38558351
|
G | A | 2 | a0001c0002t0001g0141a0001c0102t0001g0065 | 2 | HG02080.hp1 HG02083.hp1 |
intron_variant | MODIFIER | c.12283-2762G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38558351 | ||||||
| chr19:38558399
|
G | A | 1 | a0003c0006t0001g0193 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.12283-2714G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38558399 | ||||||
| chr19:38558735
|
C | T | 1 | a0001c0003t0001g0107 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.12283-2378C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38558735 | ||||||
| chr19:38558769
|
ACT | A | 3 | a0004c0015t0001g0098a0004c0015t0001g0187a0004c0015t0001g0188 | 3 | HG01884.hp1 HG02615.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.12283-2341_12283-2 others(8): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38558769 | |||||
| chr19:38558799
|
T | A | 2 | a0001c0001t0001g0015a0001c0001t0001g0016 | 2 | HG02622.hp2 HG02723.hp2 |
intron_variant | MODIFIER | c.12283-2314T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38558799 | ||||||
| chr19:38558806
|
A | AT | 24 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(21): Show | 24 | HG01070.hp1 HG01109.hp1 HG01169.hp1 others(21): Show |
intron_variant | MODIFIER | c.12283-2306dupT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38558806 | |||||
| chr19:38558808
|
A | C | 12 | a0001c0056t0001g0135a0003c0006t0001g0045a0003c0006t0001g0057others(9): Show | 12 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(9): Show |
intron_variant | MODIFIER | c.12283-2305A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38558808 | ||||||
| chr19:38558809
|
G | T | 24 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(21): Show | 24 | HG01070.hp1 HG01109.hp1 HG01169.hp1 others(21): Show |
intron_variant | MODIFIER | c.12283-2304G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38558809 | ||||||
| chr19:38558811
|
C | A | 24 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(21): Show | 24 | HG01070.hp1 HG01109.hp1 HG01169.hp1 others(21): Show |
intron_variant | MODIFIER | c.12283-2302C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38558811 | ||||||
| chr19:38558814
|
GGT | G | 24 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(21): Show | 24 | HG01070.hp1 HG01109.hp1 HG01169.hp1 others(21): Show |
intron_variant | MODIFIER | c.12283-2295_12283-2 others(8): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38558814 | |||||
| chr19:38558885
|
G | A | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.12283-2228G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38558885 | ||||||
| chr19:38558905
|
A | C | 1 | a0001c0001t0001g0069 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.12283-2208A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38558905 | ||||||
| chr19:38558956
|
G | A | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.12283-2157G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38558956 | ||||||
| chr19:38559021
|
G | A | 11 | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
intron_variant | MODIFIER | c.12283-2092G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38559021 | ||||||
| chr19:38559208
|
G | C | 80 | a0001c0001t0001g0152a0001c0009t0001g0199a0001c0009t0001g0200others(77): Show | 80 | HG00438.hp2 HG00609.hp1 HG00621.hp1 others(77): Show |
intron_variant | MODIFIER | c.12283-1905G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38559208 | ||||||
| chr19:38559221
|
T | C | 2 | a0001c0070t0001g0002a0028c0087t0001g0023 | 2 | HG02622.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.12283-1892T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38559221 | ||||||
| chr19:38559228
|
CT | C | 65 | a0001c0001t0001g0148a0001c0001t0001g0151a0001c0001t0001g0152others(62): Show | 65 | HG00438.hp2 HG00609.hp1 HG00621.hp1 others(62): Show |
intron_variant | MODIFIER | c.12283-1862delT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38559228 | |||||
| chr19:38559228
|
CTT | C | 7 | a0001c0027t0001g0030a0001c0055t0001g0137a0001c0067t0001g0183others(4): Show | 7 | HG01109.hp1 HG01169.hp1 HG01975.hp2 others(4): Show |
intron_variant | MODIFIER | c.12283-1863_12283-1 others(8): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38559228 | |||||
| chr19:38559279
|
G | C | 1 | a0007c0037t0002g0214 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.12283-1834G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38559279 | ||||||
| chr19:38559320
|
G | A | 1 | a0001c0019t0002g0217 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.12283-1793G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38559320 | ||||||
| chr19:38559447
|
T | C | 1 | a0001c0001t0001g0077 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.12283-1666T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38559447 | ||||||
| chr19:38559448
|
G | T | 1 | a0001c0001t0001g0077 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.12283-1665G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38559448 | ||||||
| chr19:38559625
|
G | C | 1 | a0001c0062t0001g0050 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.12283-1488G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38559625 | ||||||
| chr19:38559803
|
A | G | 2 | a0001c0069t0001g0139a0007c0039t0001g0031 | 2 | HG02970.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.12283-1310A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38559803 | ||||||
| chr19:38559811
|
G | A | 1 | a0003c0100t0001g0150 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.12283-1302G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38559811 | ||||||
| chr19:38559838
|
C | T | 3 | a0008c0010t0001g0006a0008c0010t0001g0007a0008c0010t0001g0008 | 3 | HG02965.hp1 HG03139.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.12283-1275C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38559838 | ||||||
| chr19:38559839
|
G | C | 12 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(9): Show | 12 | HG00639.hp1 HG01255.hp2 HG01257.hp2 others(9): Show |
intron_variant | MODIFIER | c.12283-1274G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38559839 | ||||||
| chr19:38559924
|
C | CT | 17 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(14): Show | 17 | HG02559.hp2 HG02622.hp1 HG02647.hp2 others(14): Show |
intron_variant | MODIFIER | c.12283-1174dupT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38559924 | |||||
| chr19:38559924
|
CT | C | 6 | a0001c0001t0001g0148a0001c0023t0001g0109a0001c0069t0001g0139others(3): Show | 6 | HG01169.hp2 HG02630.hp1 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.12283-1174delT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38559924 | |||||
| chr19:38559980
|
C | T | 1 | a0001c0001t0001g0094 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.12283-1133C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38559980 | ||||||
| chr19:38560371
|
A | T | 3 | a0004c0015t0001g0098a0004c0015t0001g0187a0004c0015t0001g0188 | 3 | HG01884.hp1 HG02615.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.12283-742A>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38560371 | ||||||
| chr19:38560409
|
A | G | 12 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(9): Show | 12 | HG00639.hp1 HG01255.hp2 HG01257.hp2 others(9): Show |
intron_variant | MODIFIER | c.12283-704A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38560409 | ||||||
| chr19:38560455
|
G | A | 2 | a0001c0027t0001g0030a0001c0027t0001g0059 | 2 | HG01975.hp2 HG01981.hp1 |
intron_variant | MODIFIER | c.12283-658G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38560455 | ||||||
| chr19:38560500
|
G | A | 1 | a0007c0038t0002g0215 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.12283-613G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38560500 | ||||||
| chr19:38560729
|
C | CA | 26 | a0001c0001t0001g0038a0001c0001t0001g0040a0001c0001t0001g0075others(23): Show | 26 | HG00639.hp2 HG01071.hp1 HG01109.hp1 others(23): Show |
intron_variant | MODIFIER | c.12283-363dupA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38560729 | |||||
| chr19:38560729
|
C | CAA | 6 | a0001c0001t0001g0088a0003c0122t0001g0149a0005c0088t0001g0053others(3): Show | 6 | HG01255.hp1 HG02148.hp2 HG02965.hp1 others(3): Show |
intron_variant | MODIFIER | c.12283-364_12283-36 others(6): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38560729 | |||||
| chr19:38560729
|
CA | C | 11 | a0001c0001t0001g0079a0001c0002t0001g0095a0001c0005t0001g0155others(8): Show | 11 | HG01123.hp1 HG01256.hp2 HG01884.hp1 others(8): Show |
intron_variant | MODIFIER | c.12283-363delA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38560729 | |||||
| chr19:38560750
|
AGAG | A | 2 | a0001c0071t0001g0186a0015c0086t0001g0019 | 2 | HG03130.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.12283-362_12283-36 others(7): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38560750 | ||||||
| chr19:38560755
|
A | G | 2 | a0001c0071t0001g0186a0015c0086t0001g0019 | 2 | HG03130.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.12283-358A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38560755 | ||||||
| chr19:38560865
|
T | G | 8 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(5): Show | 8 | HG02647.hp2 HG02897.hp2 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.12283-248T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38560865 | ||||||
| chr19:38560891
|
C | T | 1 | a0001c0001t0001g0069 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.12283-222C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38560891 | ||||||
| chr19:38561015
|
T | C | 8 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(5): Show | 8 | HG00639.hp1 HG01255.hp2 HG01257.hp2 others(5): Show |
intron_variant | MODIFIER | c.12283-98T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38561015 | ||||||
| chr19:38561040
|
T | TA | 35 | a0001c0001t0001g0012a0001c0001t0001g0058a0001c0003t0001g0105others(32): Show | 35 | HG00438.hp1 HG00621.hp2 HG00733.hp1 others(32): Show |
intron_variant | MODIFIER | c.12283-56dupA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38561040 | |||||
| chr19:38561040
|
TA | T | 25 | a0001c0001t0001g0014a0001c0001t0001g0016a0001c0001t0001g0145others(22): Show | 25 | HG00438.hp2 HG00609.hp1 HG00621.hp1 others(22): Show |
intron_variant | MODIFIER | c.12283-56delA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | 38561040 | |||||
| chr19:38561056
|
A | G | 1 | a0001c0002t0001g0095 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.12283-57A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38561056 | ||||||
| chr19:38561057
|
AGAG | A | 3 | a0004c0015t0001g0098a0004c0015t0001g0187a0004c0015t0001g0188 | 3 | HG01884.hp1 HG02615.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.12283-55_12283-53d others(5): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | chr19 | 38561057 | ||||||
| chr19:38561468
|
C | T | 15 | a0001c0002t0001g0063a0001c0002t0001g0080a0001c0002t0001g0081others(12): Show | 15 | HG00609.hp2 HG02027.hp2 HG02056.hp2 others(12): Show |
intron_variant | MODIFIER | c.12624+14C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | chr19 | 38561468 | ||||||
| chr19:38561515
|
C | G | 2 | a0019c0080t0001g0142a0020c0081t0001g0143 | 2 | HG02647.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.12624+61C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | chr19 | 38561515 | ||||||
| chr19:38561587
|
C | T | 1 | a0002c0008t0001g0175 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.12624+133C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | chr19 | 38561587 | ||||||
| chr19:38561646
|
G | A | 2 | a0001c0068t0002g0209a0001c0119t0001g0189 | 2 | HG00642.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.12624+192G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | chr19 | 38561646 | ||||||
| chr19:38562024
|
A | G | 1 | a0004c0115t0004g0216 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.12624+570A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | chr19 | 38562024 | ||||||
| chr19:38562078
|
T | G | 1 | a0001c0052t0003g0034 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.12624+624T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | chr19 | 38562078 | ||||||
| chr19:38562129
|
C | T | 4 | a0001c0001t0001g0067a0001c0004t0001g0101a0001c0004t0001g0103others(1): Show | 4 | HG02080.hp2 NA18612.hp1 NA18955.hp2 others(1): Show |
intron_variant | MODIFIER | c.12624+675C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | chr19 | 38562129 | ||||||
| chr19:38562184
|
C | T | 3 | a0008c0010t0001g0006a0008c0010t0001g0007a0008c0010t0001g0008 | 3 | HG02965.hp1 HG03139.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.12624+730C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | chr19 | 38562184 | ||||||
| chr19:38562282
|
T | C | 8 | a0001c0001t0001g0152a0001c0013t0001g0056a0001c0013t0001g0060others(5): Show | 8 | HG00438.hp2 HG00621.hp1 HG01123.hp2 others(5): Show |
intron_variant | MODIFIER | c.12624+828T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | chr19 | 38562282 | ||||||
| chr19:38562298
|
T | G | 1 | a0001c0002t0001g0082 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.12624+844T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | chr19 | 38562298 | ||||||
| chr19:38562400
|
C | T | 9 | a0001c0001t0001g0152a0001c0013t0001g0056a0001c0013t0001g0060others(6): Show | 9 | HG00438.hp2 HG00621.hp1 HG00642.hp2 others(6): Show |
intron_variant | MODIFIER | c.12624+946C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | chr19 | 38562400 | ||||||
| chr19:38562585
|
C | T | 3 | a0001c0014t0001g0004a0001c0014t0001g0024a0001c0020t0001g0197 | 3 | HG01891.hp2 HG02109.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.12624+1131C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | chr19 | 38562585 | ||||||
| chr19:38562626
|
G | A | 8 | a0001c0001t0001g0152a0001c0013t0001g0056a0001c0013t0001g0060others(5): Show | 8 | HG00438.hp2 HG00621.hp1 HG01123.hp2 others(5): Show |
intron_variant | MODIFIER | c.12624+1172G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | chr19 | 38562626 | ||||||
| chr19:38562642
|
C | T | 94 | a0001c0001t0001g0152a0001c0004t0001g0097a0001c0005t0001g0154others(91): Show | 94 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(91): Show |
intron_variant | MODIFIER | c.12624+1188C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | chr19 | 38562642 | ||||||
| chr19:38562778
|
C | T | 1 | a0001c0001t0001g0018 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.12624+1324C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | chr19 | 38562778 | ||||||
| chr19:38562807
|
A | G | 1 | a0002c0008t0001g0172 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.12624+1353A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | chr19 | 38562807 | ||||||
| chr19:38562834
|
G | C | 1 | a0029c0057t0002g0204 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.12624+1380G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | chr19 | 38562834 | ||||||
| chr19:38562851
|
T | C | 7 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(4): Show | 7 | HG01099.hp2 HG01123.hp1 HG01169.hp1 others(4): Show |
intron_variant | MODIFIER | c.12624+1397T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | chr19 | 38562851 | ||||||
| chr19:38562886
|
C | T | 7 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(4): Show | 7 | HG02622.hp1 HG02630.hp1 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.12624+1432C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | chr19 | 38562886 | ||||||
| chr19:38562978
|
T | C | 8 | a0001c0011t0001g0003a0001c0011t0001g0021a0001c0055t0001g0137others(5): Show | 8 | HG00642.hp2 HG02622.hp1 HG02965.hp2 others(5): Show |
intron_variant | MODIFIER | c.12624+1524T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | chr19 | 38562978 | ||||||
| chr19:38563035
|
C | T | 1 | a0001c0108t0001g0138 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.12624+1581C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | chr19 | 38563035 | ||||||
| chr19:38563051
|
T | C | 90 | a0001c0001t0001g0026a0001c0001t0001g0028a0001c0001t0001g0029others(87): Show | 90 | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(87): Show |
intron_variant | MODIFIER | c.12624+1597T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | chr19 | 38563051 | ||||||
| chr19:38563067
|
G | A | 6 | a0001c0065t0001g0131a0001c0076t0001g0164a0002c0012t0001g0166others(3): Show | 6 | HG01433.hp2 HG02735.hp1 HG03669.hp1 others(3): Show |
intron_variant | MODIFIER | c.12624+1613G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | chr19 | 38563067 | ||||||
| chr19:38563277
|
T | A | 1 | a0002c0008t0001g0172 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.12625-1682T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | chr19 | 38563277 | ||||||
| chr19:38563322
|
A | G | 3 | a0001c0062t0001g0050a0002c0025t0001g0162a0002c0025t0001g0170 | 3 | HG00735.hp2 HG03669.hp2 HG03834.hp1 |
intron_variant | MODIFIER | c.12625-1637A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | chr19 | 38563322 | ||||||
| chr19:38563511
|
C | T | 1 | a0022c0060t0001g0112 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.12625-1448C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | chr19 | 38563511 | ||||||
| chr19:38563517
|
G | A | 6 | a0003c0006t0001g0057a0003c0006t0001g0114a0003c0064t0001g0181others(3): Show | 6 | HG01071.hp2 HG01934.hp1 HG02148.hp1 others(3): Show |
intron_variant | MODIFIER | c.12625-1442G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | chr19 | 38563517 | ||||||
| chr19:38563593
|
C | T | 1 | a0003c0064t0001g0181 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.12625-1366C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | chr19 | 38563593 | ||||||
| chr19:38563742
|
G | C | 1 | a0001c0118t0001g0134 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.12625-1217G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | chr19 | 38563742 | ||||||
| chr19:38563938
|
C | A | 1 | a0002c0008t0001g0172 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.12625-1021C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | chr19 | 38563938 | ||||||
| chr19:38563961
|
G | A | 1 | a0001c0023t0001g0110 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.12625-998G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | chr19 | 38563961 | ||||||
| chr19:38564010
|
T | C | 1 | a0017c0041t0001g0117 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.12625-949T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | chr19 | 38564010 | ||||||
| chr19:38564240
|
C | T | 11 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(8): Show | 11 | HG00642.hp2 HG02622.hp1 HG02647.hp2 others(8): Show |
intron_variant | MODIFIER | c.12625-719C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | chr19 | 38564240 | ||||||
| chr19:38564397
|
C | T | 8 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(5): Show | 8 | HG00642.hp2 HG02622.hp1 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.12625-562C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | chr19 | 38564397 | ||||||
| chr19:38564398
|
G | A | 1 | a0001c0001t0001g0039 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.12625-561G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | chr19 | 38564398 | ||||||
| chr19:38564455
|
A | T | 1 | a0004c0015t0001g0098 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.12625-504A>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | chr19 | 38564455 | ||||||
| chr19:38564489
|
C | T | 20 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(17): Show | 20 | HG00642.hp2 HG01884.hp1 HG02559.hp2 others(17): Show |
intron_variant | MODIFIER | c.12625-470C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | chr19 | 38564489 | ||||||
| chr19:38564511
|
T | G | 1 | a0028c0087t0001g0023 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.12625-448T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | chr19 | 38564511 | ||||||
| chr19:38564514
|
T | G | 1 | a0004c0115t0004g0216 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.12625-445T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | chr19 | 38564514 | ||||||
| chr19:38564517
|
C | CT | 11 | a0001c0001t0001g0088a0001c0029t0001g0074a0001c0029t0001g0083others(8): Show | 11 | HG01070.hp1 HG01255.hp1 HG01433.hp2 others(8): Show |
intron_variant | MODIFIER | c.12625-427dupT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | INFO_REALIGN_3_PRIME | chr19 | 38564517 | |||||
| chr19:38564664
|
C | T | 12 | a0001c0035t0001g0113a0001c0090t0001g0017a0003c0006t0001g0045others(9): Show | 12 | HG00609.hp1 HG01071.hp2 HG01884.hp2 others(9): Show |
intron_variant | MODIFIER | c.12625-295C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | chr19 | 38564664 | ||||||
| chr19:38564703
|
C | T | 28 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(25): Show | 28 | HG00609.hp1 HG00639.hp1 HG01071.hp2 others(25): Show |
intron_variant | MODIFIER | c.12625-256C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | chr19 | 38564703 | ||||||
| chr19:38564721
|
G | A | 1 | a0015c0086t0001g0019 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.12625-238G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | chr19 | 38564721 | ||||||
| chr19:38564772
|
T | C | 2 | a0004c0115t0004g0216a0015c0086t0001g0019 | 2 | HG02630.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.12625-187T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | chr19 | 38564772 | ||||||
| chr19:38564796
|
G | A | 2 | a0004c0115t0004g0216a0015c0086t0001g0019 | 2 | HG02630.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.12625-163G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 90/105 | chr19 | 38564796 | ||||||
| chr19:38566032
|
GAGAGTGC others(10): Show |
G | 2 | a0007c0039t0001g0031a0018c0083t0002g0211 | 2 | HG03130.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.13437+292_13437+30 others(21): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 91/105 | INFO_REALIGN_3_PRIME | chr19 | 38566032 | |||||
| chr19:38566113
|
A | G | 1 | a0034c0042t0001g0104 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.13437+342A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 91/105 | chr19 | 38566113 | ||||||
| chr19:38566207
|
G | A | 1 | a0002c0008t0001g0172 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.13437+436G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 91/105 | chr19 | 38566207 | ||||||
| chr19:38566259
|
G | C | 1 | a0001c0005t0001g0154 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.13437+488G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 91/105 | chr19 | 38566259 | ||||||
| chr19:38566327
|
T | C | 1 | a0001c0058t0001g0001 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.13437+556T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 91/105 | chr19 | 38566327 | ||||||
| chr19:38566433
|
A | C | 1 | a0001c0001t0001g0058 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.13438-478A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 91/105 | chr19 | 38566433 | ||||||
| chr19:38566443
|
T | C | 39 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(36): Show | 39 | HG00639.hp1 HG00642.hp2 HG01109.hp1 others(36): Show |
intron_variant | MODIFIER | c.13438-468T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 91/105 | chr19 | 38566443 | ||||||
| chr19:38566448
|
C | CA | 33 | a0001c0001t0001g0011a0001c0001t0001g0022a0001c0001t0001g0029others(30): Show | 33 | HG00609.hp1 HG00639.hp1 HG01099.hp2 others(30): Show |
intron_variant | MODIFIER | c.13438-434dupA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 91/105 | INFO_REALIGN_3_PRIME | chr19 | 38566448 | |||||
| chr19:38566448
|
C | CAA | 20 | a0001c0001t0001g0058a0001c0001t0001g0151a0001c0001t0001g0152others(17): Show | 20 | HG00621.hp2 HG01943.hp2 HG02027.hp1 others(17): Show |
intron_variant | MODIFIER | c.13438-435_13438-43 others(6): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 91/105 | INFO_REALIGN_3_PRIME | chr19 | 38566448 | |||||
| chr19:38566448
|
C | CAAA | 14 | a0001c0013t0001g0060a0001c0013t0001g0115a0001c0031t0001g0159others(11): Show | 14 | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(11): Show |
intron_variant | MODIFIER | c.13438-436_13438-43 others(7): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 91/105 | INFO_REALIGN_3_PRIME | chr19 | 38566448 | |||||
| chr19:38566448
|
CAAA | C | 5 | a0001c0019t0002g0218a0001c0022t0001g0051a0001c0022t0001g0052others(2): Show | 5 | HG01175.hp2 HG03017.hp1 NA18939.hp2 others(2): Show |
intron_variant | MODIFIER | c.13438-436_13438-43 others(7): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 91/105 | INFO_REALIGN_3_PRIME | chr19 | 38566448 | |||||
| chr19:38566448
|
CAAAA | C | 21 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(18): Show | 21 | HG00735.hp2 HG01070.hp1 HG01070.hp2 others(18): Show |
intron_variant | MODIFIER | c.13438-437_13438-43 others(8): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 91/105 | INFO_REALIGN_3_PRIME | chr19 | 38566448 | |||||
| chr19:38566448
|
CAAAAAAA | C | 8 | a0001c0002t0001g0087a0001c0003t0001g0100a0001c0003t0001g0105others(5): Show | 8 | HG01978.hp2 HG02074.hp2 HG02148.hp2 others(5): Show |
intron_variant | MODIFIER | c.13438-440_13438-43 others(11): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 91/105 | INFO_REALIGN_3_PRIME | chr19 | 38566448 | |||||
| chr19:38566448
|
CAAAAAAA others(1): Show |
C | 17 | a0001c0001t0001g0067a0001c0001t0001g0088a0001c0001t0001g0145others(14): Show | 17 | HG00639.hp2 HG01109.hp1 HG01169.hp2 others(14): Show |
intron_variant | MODIFIER | c.13438-441_13438-43 others(12): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 91/105 | INFO_REALIGN_3_PRIME | chr19 | 38566448 | |||||
| chr19:38566448
|
CAAAAAAA others(4): Show |
C | 1 | a0001c0030t0001g0055 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.13438-444_13438-43 others(15): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 91/105 | INFO_REALIGN_3_PRIME | chr19 | 38566448 | |||||
| chr19:38566448
|
CAAAAAAA others(5): Show |
C | 2 | a0001c0068t0002g0209a0001c0119t0001g0189 | 2 | HG00642.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.13438-445_13438-43 others(16): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 91/105 | INFO_REALIGN_3_PRIME | chr19 | 38566448 | |||||
| chr19:38566448
|
CAAAAAAA others(7): Show |
C | 9 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(6): Show | 9 | HG02622.hp1 HG02647.hp2 HG02897.hp2 others(6): Show |
intron_variant | MODIFIER | c.13438-447_13438-43 others(18): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 91/105 | INFO_REALIGN_3_PRIME | chr19 | 38566448 | |||||
| chr19:38566534
|
A | G | 1 | a0003c0051t0003g0036 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.13438-377A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 91/105 | chr19 | 38566534 | ||||||
| chr19:38566574
|
C | T | 3 | a0001c0067t0001g0183a0001c0069t0001g0139a0004c0072t0001g0125 | 3 | HG01109.hp1 HG01169.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.13438-337C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 91/105 | chr19 | 38566574 | ||||||
| chr19:38566645
|
G | A | 3 | a0004c0015t0001g0098a0004c0015t0001g0187a0004c0015t0001g0188 | 3 | HG01884.hp1 HG02615.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.13438-266G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 91/105 | chr19 | 38566645 | ||||||
| chr19:38566720
|
G | T | 1 | a0004c0115t0004g0216 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.13438-191G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 91/105 | chr19 | 38566720 | ||||||
| chr19:38566854
|
G | A | 1 | a0001c0005t0001g0154 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.13438-57G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 91/105 | chr19 | 38566854 | ||||||
| chr19:38566855
|
C | G | 1 | a0001c0005t0001g0154 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.13438-56C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 91/105 | chr19 | 38566855 | ||||||
| chr19:38567052
|
C | T | 3 | a0001c0058t0001g0001a0007c0038t0002g0215a0019c0080t0001g0142 | 3 | HG02647.hp2 HG02897.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.13514+65C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 92/105 | chr19 | 38567052 | ||||||
| chr19:38567064
|
C | T | 1 | a0001c0090t0001g0017 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.13514+77C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 92/105 | chr19 | 38567064 | ||||||
| chr19:38567295
|
C | T | 4 | a0006c0007t0002g0202a0006c0007t0002g0203a0006c0007t0002g0212others(1): Show | 4 | HG01891.hp1 HG02257.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.13514+308C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 92/105 | chr19 | 38567295 | ||||||
| chr19:38567307
|
C | T | 1 | a0001c0001t0001g0079 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.13514+320C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 92/105 | chr19 | 38567307 | ||||||
| chr19:38567344
|
T | C | 8 | a0001c0002t0001g0063a0001c0002t0001g0080a0001c0002t0001g0081others(5): Show | 8 | HG00609.hp2 HG02027.hp2 HG02056.hp2 others(5): Show |
intron_variant | MODIFIER | c.13514+357T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 92/105 | chr19 | 38567344 | ||||||
| chr19:38567412
|
GA | G | 4 | a0006c0007t0002g0202a0006c0007t0002g0203a0006c0007t0002g0212others(1): Show | 4 | HG01891.hp1 HG02257.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.13515-359delA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 92/105 | INFO_REALIGN_3_PRIME | chr19 | 38567412 | |||||
| chr19:38567518
|
A | G | 10 | a0001c0001t0001g0151a0001c0001t0001g0152a0001c0013t0001g0056others(7): Show | 10 | HG00438.hp2 HG00621.hp1 HG01123.hp2 others(7): Show |
intron_variant | MODIFIER | c.13515-255A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 92/105 | chr19 | 38567518 | ||||||
| chr19:38567534
|
C | G | 37 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(34): Show | 37 | HG00639.hp1 HG00642.hp2 HG01109.hp1 others(34): Show |
intron_variant | MODIFIER | c.13515-239C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 92/105 | chr19 | 38567534 | ||||||
| chr19:38567582
|
C | G | 1 | a0001c0082t0001g0027 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.13515-191C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 92/105 | chr19 | 38567582 | ||||||
| chr19:38567678
|
G | A | 3 | a0001c0062t0001g0050a0002c0025t0001g0162a0002c0025t0001g0170 | 3 | HG00735.hp2 HG03669.hp2 HG03834.hp1 |
intron_variant | MODIFIER | c.13515-95G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 92/105 | chr19 | 38567678 | ||||||
| chr19:38568109
|
G | T | 3 | a0001c0028t0001g0068a0001c0089t0001g0046a0001c0118t0001g0134 | 3 | NA18998.hp1 NA19010.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.13659+192G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 93/105 | chr19 | 38568109 | ||||||
| chr19:38568435
|
G | A | 4 | a0001c0067t0001g0183a0004c0072t0001g0125a0007c0039t0001g0031others(1): Show | 4 | HG01109.hp1 HG01169.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.13659+518G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 93/105 | chr19 | 38568435 | ||||||
| chr19:38568520
|
G | C | 1 | a0001c0001t0001g0076 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.13659+603G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 93/105 | chr19 | 38568520 | ||||||
| chr19:38568581
|
C | CA | 19 | a0001c0003t0001g0107a0001c0009t0001g0199a0001c0009t0001g0200others(16): Show | 19 | HG00639.hp1 HG00735.hp2 HG01255.hp2 others(16): Show |
intron_variant | MODIFIER | c.13659+685dupA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 93/105 | INFO_REALIGN_3_PRIME | chr19 | 38568581 | |||||
| chr19:38568581
|
CA | C | 41 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0035t0001g0113others(38): Show | 41 | HG00609.hp1 HG00642.hp2 HG01071.hp2 others(38): Show |
intron_variant | MODIFIER | c.13659+685delA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 93/105 | INFO_REALIGN_3_PRIME | chr19 | 38568581 | |||||
| chr19:38568581
|
CAAAAAAA others(3): Show |
C | 1 | a0001c0066t0001g0092 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.13659+676_13659+68 others(14): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 93/105 | INFO_REALIGN_3_PRIME | chr19 | 38568581 | |||||
| chr19:38568773
|
C | CG | 19 | a0001c0001t0001g0022a0001c0001t0001g0029a0001c0002t0001g0080others(16): Show | 19 | HG00438.hp1 HG00621.hp2 HG01099.hp2 others(16): Show |
intron_variant | MODIFIER | c.13659+863dupG | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 93/105 | INFO_REALIGN_3_PRIME | chr19 | 38568773 | |||||
| chr19:38568793
|
CAT | C | 27 | a0001c0001t0001g0012a0001c0005t0001g0154a0001c0005t0001g0155others(24): Show | 27 | HG00438.hp1 HG00621.hp2 HG00733.hp1 others(24): Show |
intron_variant | MODIFIER | c.13659+877_13659+87 others(6): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 93/105 | chr19 | 38568793 | ||||||
| chr19:38569014
|
A | AT | 25 | a0001c0002t0001g0091a0001c0019t0002g0218a0001c0035t0001g0113others(22): Show | 25 | HG00609.hp1 HG01071.hp2 HG01433.hp2 others(22): Show |
intron_variant | MODIFIER | c.13659+1111dupT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 93/105 | INFO_REALIGN_3_PRIME | chr19 | 38569014 | |||||
| chr19:38569049
|
T | C | 1 | a0028c0087t0001g0023 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.13659+1132T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 93/105 | chr19 | 38569049 | ||||||
| chr19:38569050
|
G | A | 1 | a0028c0087t0001g0023 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.13659+1133G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 93/105 | chr19 | 38569050 | ||||||
| chr19:38569057
|
T | C | 74 | a0001c0001t0001g0151a0001c0001t0001g0152a0001c0009t0001g0199others(71): Show | 74 | HG00438.hp2 HG00609.hp1 HG00621.hp1 others(71): Show |
intron_variant | MODIFIER | c.13659+1140T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 93/105 | chr19 | 38569057 | ||||||
| chr19:38569101
|
C | T | 2 | a0007c0039t0001g0031a0018c0083t0002g0211 | 2 | HG03130.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.13659+1184C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 93/105 | chr19 | 38569101 | ||||||
| chr19:38569115
|
A | G | 1 | a0022c0060t0001g0112 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.13659+1198A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 93/105 | chr19 | 38569115 | ||||||
| chr19:38569217
|
A | G | 4 | a0006c0007t0002g0202a0006c0007t0002g0203a0006c0007t0002g0212others(1): Show | 4 | HG01891.hp1 HG02257.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.13659+1300A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 93/105 | chr19 | 38569217 | ||||||
| chr19:38569223
|
A | G | 22 | a0001c0001t0001g0022a0001c0009t0001g0199a0001c0009t0001g0200others(19): Show | 22 | HG00639.hp1 HG01109.hp1 HG01255.hp2 others(19): Show |
intron_variant | MODIFIER | c.13659+1306A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 93/105 | chr19 | 38569223 | ||||||
| chr19:38569249
|
C | T | 1 | a0001c0034t0001g0180 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.13659+1332C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 93/105 | chr19 | 38569249 | ||||||
| chr19:38569250
|
A | G | 1 | a0001c0034t0001g0180 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.13659+1333A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 93/105 | chr19 | 38569250 | ||||||
| chr19:38569306
|
C | T | 9 | a0001c0001t0001g0029a0001c0011t0001g0003a0001c0011t0001g0005others(6): Show | 9 | HG00642.hp2 HG02622.hp1 HG02922.hp1 others(6): Show |
intron_variant | MODIFIER | c.13660-1301C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 93/105 | chr19 | 38569306 | ||||||
| chr19:38569348
|
G | T | 4 | a0001c0082t0001g0027a0008c0010t0001g0006a0008c0010t0001g0007others(1): Show | 4 | HG02965.hp1 HG02970.hp2 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.13660-1259G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 93/105 | chr19 | 38569348 | ||||||
| chr19:38569396
|
GT | G | 4 | a0001c0082t0001g0027a0008c0010t0001g0006a0008c0010t0001g0007others(1): Show | 4 | HG02965.hp1 HG02970.hp2 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.13660-1204delT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 93/105 | INFO_REALIGN_3_PRIME | chr19 | 38569396 | |||||
| chr19:38569552
|
C | CA | 43 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(40): Show | 43 | HG00438.hp2 HG00639.hp1 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.13660-1041dupA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 93/105 | INFO_REALIGN_3_PRIME | chr19 | 38569552 | |||||
| chr19:38569598
|
C | T | 57 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(54): Show | 57 | HG00438.hp2 HG00609.hp1 HG00639.hp1 others(54): Show |
intron_variant | MODIFIER | c.13660-1009C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 93/105 | chr19 | 38569598 | ||||||
| chr19:38569614
|
C | T | 3 | a0001c0067t0001g0183a0001c0069t0001g0139a0004c0072t0001g0125 | 3 | HG01109.hp1 HG01169.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.13660-993C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 93/105 | chr19 | 38569614 | ||||||
| chr19:38570064
|
T | G | 1 | a0001c0096t0001g0090 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.13660-543T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 93/105 | chr19 | 38570064 | ||||||
| chr19:38570202
|
A | G | 1 | a0015c0086t0001g0019 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.13660-405A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 93/105 | chr19 | 38570202 | ||||||
| chr19:38570228
|
C | T | 1 | a0001c0001t0001g0070 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.13660-379C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 93/105 | chr19 | 38570228 | ||||||
| chr19:38570344
|
C | T | 3 | a0001c0058t0001g0001a0007c0038t0002g0215a0019c0080t0001g0142 | 3 | HG02647.hp2 HG02897.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.13660-263C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 93/105 | chr19 | 38570344 | ||||||
| chr19:38570439
|
A | G | 1 | a0001c0102t0001g0065 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.13660-168A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 93/105 | chr19 | 38570439 | ||||||
| chr19:38570529
|
C | A | 8 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(5): Show | 8 | HG00639.hp1 HG01255.hp2 HG01257.hp2 others(5): Show |
intron_variant | MODIFIER | c.13660-78C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 93/105 | chr19 | 38570529 | ||||||
| chr19:38570782
|
C | T | 7 | a0001c0065t0001g0131a0001c0076t0001g0164a0002c0012t0001g0166others(4): Show | 7 | HG01433.hp2 HG02735.hp1 HG03669.hp1 others(4): Show |
intron_variant | MODIFIER | c.13746+89C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 94/105 | chr19 | 38570782 | ||||||
| chr19:38570959
|
C | T | 2 | a0007c0039t0001g0031a0018c0083t0002g0211 | 2 | HG03130.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.13746+266C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 94/105 | chr19 | 38570959 | ||||||
| chr19:38571414
|
A | G | 3 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201 | 3 | HG02735.hp2 HG03490.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.13747-605A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 94/105 | chr19 | 38571414 | ||||||
| chr19:38571623
|
G | T | 3 | a0001c0058t0001g0001a0007c0038t0002g0215a0019c0080t0001g0142 | 3 | HG02647.hp2 HG02897.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.13747-396G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 94/105 | chr19 | 38571623 | ||||||
| chr19:38571746
|
T | A | 28 | a0001c0001t0001g0012a0001c0001t0001g0058a0001c0005t0001g0154others(25): Show | 28 | HG00438.hp1 HG00621.hp2 HG00733.hp1 others(25): Show |
intron_variant | MODIFIER | c.13747-273T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 94/105 | chr19 | 38571746 | ||||||
| chr19:38571882
|
A | G | 1 | a0001c0069t0001g0139 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.13747-137A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 94/105 | chr19 | 38571882 | ||||||
| chr19:38572386
|
C | T | 3 | a0001c0058t0001g0001a0007c0038t0002g0215a0019c0080t0001g0142 | 3 | HG02647.hp2 HG02897.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.13998+116C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 95/105 | chr19 | 38572386 | ||||||
| chr19:38572435
|
A | G | 8 | a0001c0055t0001g0137a0001c0058t0001g0001a0006c0007t0002g0202others(5): Show | 8 | HG01891.hp1 HG02257.hp2 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.13998+165A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 95/105 | chr19 | 38572435 | ||||||
| chr19:38572454
|
T | G | 6 | a0001c0013t0001g0056a0001c0013t0001g0060a0001c0066t0001g0092others(3): Show | 6 | HG00438.hp2 HG01123.hp2 HG03710.hp1 others(3): Show |
intron_variant | MODIFIER | c.13998+184T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 95/105 | chr19 | 38572454 | ||||||
| chr19:38572581
|
T | G | 2 | a0001c0056t0001g0135a0004c0115t0004g0216 | 2 | HG02559.hp2 HG02630.hp1 |
intron_variant | MODIFIER | c.13998+311T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 95/105 | chr19 | 38572581 | ||||||
| chr19:38572979
|
G | C | 17 | a0001c0035t0001g0113a0001c0065t0001g0131a0001c0076t0001g0164others(14): Show | 17 | HG00609.hp1 HG01071.hp2 HG01433.hp2 others(14): Show |
intron_variant | MODIFIER | c.13999-198G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 95/105 | chr19 | 38572979 | ||||||
| chr19:38573387
|
A | T | 1 | a0015c0086t0001g0019 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.14129+80A>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 96/105 | chr19 | 38573387 | ||||||
| chr19:38573509
|
G | A | 3 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201 | 3 | HG02735.hp2 HG03490.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.14129+202G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 96/105 | chr19 | 38573509 | ||||||
| chr19:38573693
|
C | CA | 8 | a0001c0055t0001g0137a0001c0058t0001g0001a0006c0007t0002g0202others(5): Show | 8 | HG01891.hp1 HG02257.hp2 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.14129+399dupA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 96/105 | INFO_REALIGN_3_PRIME | chr19 | 38573693 | |||||
| chr19:38574293
|
G | GA | 42 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(39): Show | 42 | HG00609.hp1 HG01071.hp2 HG01109.hp1 others(39): Show |
intron_variant | MODIFIER | c.14129+998dupA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 96/105 | INFO_REALIGN_3_PRIME | chr19 | 38574293 | |||||
| chr19:38574293
|
G | GAA | 7 | a0001c0013t0001g0056a0001c0013t0001g0060a0001c0031t0001g0159others(4): Show | 7 | HG00438.hp2 HG01123.hp2 HG02074.hp1 others(4): Show |
intron_variant | MODIFIER | c.14129+997_14129+99 others(6): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 96/105 | INFO_REALIGN_3_PRIME | chr19 | 38574293 | |||||
| chr19:38574389
|
A | G | 1 | a0001c0028t0001g0182 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.14129+1082A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 96/105 | chr19 | 38574389 | ||||||
| chr19:38574478
|
C | A | 4 | a0001c0082t0001g0027a0008c0010t0001g0006a0008c0010t0001g0007others(1): Show | 4 | HG02965.hp1 HG02970.hp2 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.14129+1171C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 96/105 | chr19 | 38574478 | ||||||
| chr19:38574751
|
C | T | 1 | a0026c0046t0001g0127 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.14130-1168C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 96/105 | chr19 | 38574751 | ||||||
| chr19:38574795
|
T | C | 5 | a0001c0067t0001g0183a0001c0069t0001g0139a0004c0072t0001g0125others(2): Show | 5 | HG01109.hp1 HG01169.hp1 HG02970.hp1 others(2): Show |
intron_variant | MODIFIER | c.14130-1124T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 96/105 | chr19 | 38574795 | ||||||
| chr19:38574854
|
A | G | 3 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201 | 3 | HG02735.hp2 HG03490.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.14130-1065A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 96/105 | chr19 | 38574854 | ||||||
| chr19:38574904
|
G | A | 2 | a0001c0003t0001g0105a0034c0042t0001g0104 | 2 | HG01978.hp2 HG02293.hp1 |
intron_variant | MODIFIER | c.14130-1015G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 96/105 | chr19 | 38574904 | ||||||
| chr19:38574908
|
T | C | 52 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(49): Show | 52 | HG00438.hp2 HG00609.hp1 HG01071.hp2 others(49): Show |
intron_variant | MODIFIER | c.14130-1011T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 96/105 | chr19 | 38574908 | ||||||
| chr19:38574948
|
A | G | 108 | a0001c0001t0001g0012a0001c0001t0001g0058a0001c0005t0001g0154others(105): Show | 108 | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(105): Show |
intron_variant | MODIFIER | c.14130-971A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 96/105 | chr19 | 38574948 | ||||||
| chr19:38575039
|
CA | C | 100 | a0001c0001t0001g0012a0001c0001t0001g0058a0001c0005t0001g0154others(97): Show | 100 | HG00438.hp1 HG00438.hp2 HG00621.hp2 others(97): Show |
intron_variant | MODIFIER | c.14130-862delA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 96/105 | INFO_REALIGN_3_PRIME | chr19 | 38575039 | |||||
| chr19:38575060
|
CGTT | C | 3 | a0001c0056t0001g0135a0004c0115t0004g0216a0028c0087t0001g0023 | 3 | HG02559.hp2 HG02630.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.14130-857_14130-85 others(7): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 96/105 | INFO_REALIGN_3_PRIME | chr19 | 38575060 | |||||
| chr19:38575231
|
C | T | 1 | a0001c0071t0001g0186 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.14130-688C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 96/105 | chr19 | 38575231 | ||||||
| chr19:38575396
|
A | C | 1 | a0017c0041t0001g0117 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.14130-523A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 96/105 | chr19 | 38575396 | ||||||
| chr19:38575471
|
C | T | 1 | a0002c0008t0001g0167 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.14130-448C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 96/105 | chr19 | 38575471 | ||||||
| chr19:38575536
|
C | T | 3 | a0001c0001t0001g0026a0001c0001t0001g0028a0001c0001t0001g0029 | 3 | HG02809.hp1 HG03098.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.14130-383C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 96/105 | chr19 | 38575536 | ||||||
| chr19:38575670
|
G | A | 3 | a0004c0015t0001g0098a0004c0015t0001g0187a0004c0015t0001g0188 | 3 | HG01884.hp1 HG02615.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.14130-249G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 96/105 | chr19 | 38575670 | ||||||
| chr19:38575718
|
G | A | 24 | a0001c0035t0001g0113a0001c0065t0001g0131a0001c0076t0001g0164others(21): Show | 24 | HG00609.hp1 HG01071.hp2 HG01433.hp2 others(21): Show |
intron_variant | MODIFIER | c.14130-201G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 96/105 | chr19 | 38575718 | ||||||
| chr19:38575854
|
C | T | 18 | a0001c0019t0002g0217a0001c0019t0002g0218a0001c0022t0001g0051others(15): Show | 18 | HG01070.hp1 HG01106.hp1 HG01175.hp2 others(15): Show |
intron_variant | MODIFIER | c.14130-65C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 96/105 | chr19 | 38575854 | ||||||
| chr19:38575911
|
C | G | 1 | a0015c0086t0001g0019 | 1 | HG03209.hp1 | splice_region_variant&intron_variant | LOW | c.14130-8C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 96/105 | chr19 | 38575911 | ||||||
| chr19:38575990
|
G | A | 1 | a0001c0001t0001g0016 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.14172+29G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 97/105 | chr19 | 38575990 | ||||||
| chr19:38576313
|
G | A | 1 | a0001c0005t0001g0179 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.14172+352G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 97/105 | chr19 | 38576313 | ||||||
| chr19:38576353
|
G | A | 1 | a0001c0001t0001g0058 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.14172+392G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 97/105 | chr19 | 38576353 | ||||||
| chr19:38576537
|
A | C | 41 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(38): Show | 41 | HG00609.hp1 HG01071.hp2 HG01109.hp1 others(38): Show |
intron_variant | MODIFIER | c.14172+576A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 97/105 | chr19 | 38576537 | ||||||
| chr19:38576537
|
A | T | 3 | a0003c0006t0001g0045a0003c0006t0001g0193a0003c0051t0003g0036 | 3 | HG02056.hp1 HG02083.hp2 NA19068.hp2 |
intron_variant | MODIFIER | c.14172+576A>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 97/105 | chr19 | 38576537 | ||||||
| chr19:38576650
|
A | G | 7 | a0001c0058t0001g0001a0001c0082t0001g0027a0007c0038t0002g0215others(4): Show | 7 | HG02647.hp2 HG02897.hp2 HG02965.hp1 others(4): Show |
intron_variant | MODIFIER | c.14172+689A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 97/105 | chr19 | 38576650 | ||||||
| chr19:38576717
|
T | C | 1 | a0031c0032t0001g0128 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.14172+756T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 97/105 | chr19 | 38576717 | ||||||
| chr19:38576756
|
C | T | 17 | a0001c0035t0001g0113a0001c0065t0001g0131a0001c0076t0001g0164others(14): Show | 17 | HG00609.hp1 HG01071.hp2 HG01433.hp2 others(14): Show |
intron_variant | MODIFIER | c.14172+795C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 97/105 | chr19 | 38576756 | ||||||
| chr19:38576787
|
G | A | 45 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(42): Show | 45 | HG00609.hp1 HG01071.hp2 HG01109.hp1 others(42): Show |
intron_variant | MODIFIER | c.14172+826G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 97/105 | chr19 | 38576787 | ||||||
| chr19:38576825
|
A | G | 1 | a0001c0105t0001g0089 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.14172+864A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 97/105 | chr19 | 38576825 | ||||||
| chr19:38576877
|
G | A | 18 | a0001c0035t0001g0113a0001c0065t0001g0131a0001c0076t0001g0164others(15): Show | 18 | HG00609.hp1 HG01071.hp2 HG01433.hp2 others(15): Show |
intron_variant | MODIFIER | c.14172+916G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 97/105 | chr19 | 38576877 | ||||||
| chr19:38577025
|
A | G | 3 | a0001c0058t0001g0001a0007c0038t0002g0215a0019c0080t0001g0142 | 3 | HG02647.hp2 HG02897.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.14173-893A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 97/105 | chr19 | 38577025 | ||||||
| chr19:38577032
|
C | T | 1 | a0001c0019t0002g0218 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.14173-886C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 97/105 | chr19 | 38577032 | ||||||
| chr19:38577050
|
T | C | 1 | a0001c0095t0001g0190 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.14173-868T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 97/105 | chr19 | 38577050 | ||||||
| chr19:38577092
|
G | A | 1 | a0003c0093t0001g0078 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.14173-826G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 97/105 | chr19 | 38577092 | ||||||
| chr19:38577176
|
G | A | 17 | a0001c0035t0001g0113a0001c0065t0001g0131a0001c0076t0001g0164others(14): Show | 17 | HG00609.hp1 HG01071.hp2 HG01433.hp2 others(14): Show |
intron_variant | MODIFIER | c.14173-742G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 97/105 | chr19 | 38577176 | ||||||
| chr19:38577229
|
C | T | 4 | a0001c0082t0001g0027a0008c0010t0001g0006a0008c0010t0001g0007others(1): Show | 4 | HG02965.hp1 HG02970.hp2 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.14173-689C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 97/105 | chr19 | 38577229 | ||||||
| chr19:38577256
|
G | A | 17 | a0001c0035t0001g0113a0001c0065t0001g0131a0001c0076t0001g0164others(14): Show | 17 | HG00609.hp1 HG01071.hp2 HG01433.hp2 others(14): Show |
intron_variant | MODIFIER | c.14173-662G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 97/105 | chr19 | 38577256 | ||||||
| chr19:38577276
|
T | C | 1 | a0001c0067t0001g0183 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.14173-642T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 97/105 | chr19 | 38577276 | ||||||
| chr19:38577347
|
C | T | 22 | a0001c0001t0001g0012a0001c0005t0001g0154a0001c0005t0001g0155others(19): Show | 22 | HG00438.hp1 HG00621.hp2 HG00733.hp1 others(19): Show |
intron_variant | MODIFIER | c.14173-571C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 97/105 | chr19 | 38577347 | ||||||
| chr19:38577348
|
G | A | 13 | a0001c0056t0001g0135a0001c0058t0001g0001a0001c0067t0001g0183others(10): Show | 13 | HG01109.hp1 HG01169.hp1 HG02559.hp2 others(10): Show |
intron_variant | MODIFIER | c.14173-570G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 97/105 | chr19 | 38577348 | ||||||
| chr19:38577388
|
C | T | 3 | a0004c0015t0001g0098a0004c0015t0001g0187a0004c0015t0001g0188 | 3 | HG01884.hp1 HG02615.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.14173-530C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 97/105 | chr19 | 38577388 | ||||||
| chr19:38577410
|
C | T | 26 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(23): Show | 26 | HG00609.hp1 HG01071.hp2 HG01433.hp2 others(23): Show |
intron_variant | MODIFIER | c.14173-508C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 97/105 | chr19 | 38577410 | ||||||
| chr19:38577571
|
C | T | 1 | a0001c0098t0001g0071 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.14173-347C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 97/105 | chr19 | 38577571 | ||||||
| chr19:38577603
|
C | T | 7 | a0001c0058t0001g0001a0001c0082t0001g0027a0007c0038t0002g0215others(4): Show | 7 | HG02647.hp2 HG02897.hp2 HG02965.hp1 others(4): Show |
intron_variant | MODIFIER | c.14173-315C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 97/105 | chr19 | 38577603 | ||||||
| chr19:38577652
|
C | T | 7 | a0001c0065t0001g0131a0001c0076t0001g0164a0002c0012t0001g0166others(4): Show | 7 | HG01433.hp2 HG02735.hp1 HG03669.hp1 others(4): Show |
intron_variant | MODIFIER | c.14173-266C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 97/105 | chr19 | 38577652 | ||||||
| chr19:38577793
|
C | CA | 44 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(41): Show | 44 | HG00609.hp1 HG01071.hp2 HG01109.hp1 others(41): Show |
intron_variant | MODIFIER | c.14173-114dupA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 97/105 | INFO_REALIGN_3_PRIME | chr19 | 38577793 | |||||
| chr19:38577892
|
A | G | 1 | a0001c0002t0001g0194 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.14173-26A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 97/105 | chr19 | 38577892 | ||||||
| chr19:38578280
|
C | T | 2 | a0001c0068t0002g0209a0001c0119t0001g0189 | 2 | HG00642.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.14364+76C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 99/105 | chr19 | 38578280 | ||||||
| chr19:38578400
|
T | A | 1 | a0001c0063t0001g0049 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.14364+196T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 99/105 | chr19 | 38578400 | ||||||
| chr19:38578430
|
C | T | 7 | a0001c0058t0001g0001a0001c0082t0001g0027a0007c0038t0002g0215others(4): Show | 7 | HG02647.hp2 HG02897.hp2 HG02965.hp1 others(4): Show |
intron_variant | MODIFIER | c.14364+226C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 99/105 | chr19 | 38578430 | ||||||
| chr19:38578461
|
G | A | 1 | a0032c0074t0001g0032 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.14364+257G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 99/105 | chr19 | 38578461 | ||||||
| chr19:38578590
|
T | C | 45 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(42): Show | 45 | HG00609.hp1 HG01071.hp2 HG01109.hp1 others(42): Show |
intron_variant | MODIFIER | c.14364+386T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 99/105 | chr19 | 38578590 | ||||||
| chr19:38578690
|
C | T | 3 | a0004c0015t0001g0098a0004c0015t0001g0187a0004c0015t0001g0188 | 3 | HG01884.hp1 HG02615.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.14364+486C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 99/105 | chr19 | 38578690 | ||||||
| chr19:38578948
|
C | G | 1 | a0028c0087t0001g0023 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.14364+744C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 99/105 | chr19 | 38578948 | ||||||
| chr19:38579024
|
G | A | 1 | a0001c0082t0001g0027 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.14364+820G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 99/105 | chr19 | 38579024 | ||||||
| chr19:38579108
|
G | A | 1 | a0001c0001t0001g0064 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.14365-874G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 99/105 | chr19 | 38579108 | ||||||
| chr19:38579352
|
G | A | 4 | a0001c0082t0001g0027a0008c0010t0001g0006a0008c0010t0001g0007others(1): Show | 4 | HG02965.hp1 HG02970.hp2 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.14365-630G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 99/105 | chr19 | 38579352 | ||||||
| chr19:38579416
|
C | T | 1 | a0004c0072t0001g0125 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.14365-566C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 99/105 | chr19 | 38579416 | ||||||
| chr19:38579424
|
CA | C | 41 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(38): Show | 41 | HG00609.hp1 HG01071.hp2 HG01169.hp1 others(38): Show |
intron_variant | MODIFIER | c.14365-539delA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 99/105 | INFO_REALIGN_3_PRIME | chr19 | 38579424 | |||||
| chr19:38579777
|
G | T | 4 | a0006c0007t0002g0202a0006c0007t0002g0203a0006c0007t0002g0212others(1): Show | 4 | HG01891.hp1 HG02257.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.14365-205G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 99/105 | chr19 | 38579777 | ||||||
| chr19:38579880
|
C | T | 1 | a0001c0003t0001g0107 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.14365-102C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 99/105 | chr19 | 38579880 | ||||||
| chr19:38580202
|
G | A | 1 | a0001c0001t0001g0093 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.14511+74G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 100/105 | chr19 | 38580202 | ||||||
| chr19:38580586
|
G | A | 3 | a0003c0006t0001g0045a0003c0006t0001g0193a0003c0051t0003g0036 | 3 | HG02056.hp1 HG02083.hp2 NA19068.hp2 |
intron_variant | MODIFIER | c.14646+82G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38580586 | ||||||
| chr19:38580617
|
C | T | 45 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(42): Show | 45 | HG00609.hp1 HG01071.hp2 HG01109.hp1 others(42): Show |
intron_variant | MODIFIER | c.14646+113C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38580617 | ||||||
| chr19:38580772
|
A | C | 3 | a0001c0028t0001g0068a0001c0089t0001g0046a0001c0118t0001g0134 | 3 | NA18998.hp1 NA19010.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.14646+268A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38580772 | ||||||
| chr19:38580878
|
A | G | 52 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(49): Show | 52 | HG00438.hp2 HG00609.hp1 HG01071.hp2 others(49): Show |
intron_variant | MODIFIER | c.14646+374A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38580878 | ||||||
| chr19:38580899
|
A | AT | 42 | a0001c0002t0001g0085a0001c0002t0001g0095a0001c0002t0001g0133others(39): Show | 42 | HG00609.hp1 HG00621.hp2 HG01071.hp2 others(39): Show |
intron_variant | MODIFIER | c.14646+413dupT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | INFO_REALIGN_3_PRIME | chr19 | 38580899 | |||||
| chr19:38580899
|
AT | A | 16 | a0001c0001t0001g0037a0001c0056t0001g0135a0001c0058t0001g0001others(13): Show | 16 | HG01070.hp1 HG01070.hp2 HG01106.hp1 others(13): Show |
intron_variant | MODIFIER | c.14646+413delT | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | INFO_REALIGN_3_PRIME | chr19 | 38580899 | |||||
| chr19:38580923
|
G | A | 3 | a0001c0071t0001g0186a0004c0084t0002g0210a0007c0037t0002g0214 | 3 | HG02922.hp2 HG03130.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.14646+419G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38580923 | ||||||
| chr19:38580985
|
G | A | 4 | a0001c0082t0001g0027a0008c0010t0001g0006a0008c0010t0001g0007others(1): Show | 4 | HG02965.hp1 HG02970.hp2 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.14646+481G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38580985 | ||||||
| chr19:38580991
|
T | C | 47 | a0001c0001t0001g0043a0001c0001t0001g0148a0001c0009t0001g0199others(44): Show | 47 | HG00609.hp1 HG00642.hp1 HG01071.hp2 others(44): Show |
intron_variant | MODIFIER | c.14646+487T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38580991 | ||||||
| chr19:38581195
|
T | A | 17 | a0001c0035t0001g0113a0001c0065t0001g0131a0001c0076t0001g0164others(14): Show | 17 | HG00609.hp1 HG01071.hp2 HG01433.hp2 others(14): Show |
intron_variant | MODIFIER | c.14646+691T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38581195 | ||||||
| chr19:38581205
|
G | A | 3 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201 | 3 | HG02735.hp2 HG03490.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.14646+701G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38581205 | ||||||
| chr19:38581238
|
T | C | 1 | a0004c0115t0004g0216 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.14646+734T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38581238 | ||||||
| chr19:38581242
|
A | T | 1 | a0004c0115t0004g0216 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.14646+738A>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38581242 | ||||||
| chr19:38581267
|
C | T | 7 | a0001c0065t0001g0131a0001c0076t0001g0164a0002c0012t0001g0166others(4): Show | 7 | HG01433.hp2 HG02735.hp1 HG03669.hp1 others(4): Show |
intron_variant | MODIFIER | c.14646+763C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38581267 | ||||||
| chr19:38581458
|
GCCCACCT others(386): Show |
G | 2 | a0010c0021t0001g0177a0010c0021t0001g0178 | 2 | HG03017.hp2 HG03710.hp2 |
intron_variant | MODIFIER | c.14646+989_14646+13 others(5): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | INFO_REALIGN_3_PRIME | chr19 | 38581458 | |||||
| chr19:38581522
|
A | G | 52 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0009t0001g0201others(49): Show | 52 | HG00438.hp2 HG00609.hp1 HG01071.hp2 others(49): Show |
intron_variant | MODIFIER | c.14646+1018A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38581522 | ||||||
| chr19:38581565
|
C | G | 32 | a0001c0001t0001g0012a0001c0001t0001g0151a0001c0005t0001g0154others(29): Show | 32 | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(29): Show |
intron_variant | MODIFIER | c.14646+1061C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38581565 | ||||||
| chr19:38581566
|
G | A | 3 | a0001c0067t0001g0183a0001c0069t0001g0139a0004c0072t0001g0125 | 3 | HG01109.hp1 HG01169.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.14646+1062G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38581566 | ||||||
| chr19:38581639
|
C | T | 29 | a0001c0001t0001g0012a0001c0005t0001g0154a0001c0005t0001g0156others(26): Show | 29 | HG00438.hp1 HG00438.hp2 HG00621.hp2 others(26): Show |
intron_variant | MODIFIER | c.14646+1135C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38581639 | ||||||
| chr19:38581863
|
C | T | 1 | a0004c0115t0004g0216 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.14646+1359C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38581863 | ||||||
| chr19:38581945
|
A | T | 2 | a0014c0073t0001g0126a0023c0109t0001g0020 | 2 | HG03041.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.14646+1441A>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38581945 | ||||||
| chr19:38582005
|
C | T | 6 | a0001c0013t0001g0056a0001c0013t0001g0060a0001c0066t0001g0092others(3): Show | 6 | HG00438.hp2 HG01123.hp2 HG03710.hp1 others(3): Show |
intron_variant | MODIFIER | c.14646+1501C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38582005 | ||||||
| chr19:38582056
|
G | A | 2 | a0001c0005t0001g0179a0001c0067t0001g0183 | 2 | HG01169.hp1 HG01256.hp1 |
intron_variant | MODIFIER | c.14646+1552G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38582056 | ||||||
| chr19:38582126
|
G | A | 6 | a0001c0005t0001g0179a0001c0067t0001g0183a0001c0069t0001g0139others(3): Show | 6 | HG01109.hp1 HG01169.hp1 HG01256.hp1 others(3): Show |
intron_variant | MODIFIER | c.14646+1622G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38582126 | ||||||
| chr19:38582135
|
T | C | 70 | a0001c0001t0001g0079a0001c0005t0001g0179a0001c0009t0001g0199others(67): Show | 70 | HG00609.hp1 HG01071.hp2 HG01109.hp1 others(67): Show |
intron_variant | MODIFIER | c.14646+1631T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38582135 | ||||||
| chr19:38582289
|
C | T | 1 | a0001c0033t0001g0158 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.14646+1785C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38582289 | ||||||
| chr19:38582411
|
A | G | 1 | a0001c0001t0001g0012 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.14646+1907A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38582411 | ||||||
| chr19:38582511
|
C | T | 55 | a0001c0005t0001g0179a0001c0009t0001g0199a0001c0009t0001g0200others(52): Show | 55 | HG00609.hp1 HG01071.hp2 HG01109.hp1 others(52): Show |
intron_variant | MODIFIER | c.14646+2007C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38582511 | ||||||
| chr19:38582573
|
C | T | 5 | a0001c0056t0001g0135a0001c0058t0001g0001a0004c0115t0004g0216others(2): Show | 5 | HG02559.hp2 HG02630.hp1 HG02647.hp2 others(2): Show |
intron_variant | MODIFIER | c.14646+2069C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38582573 | ||||||
| chr19:38582875
|
C | A | 2 | a0004c0015t0001g0098a0004c0015t0001g0187 | 2 | HG02615.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.14647-2068C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38582875 | ||||||
| chr19:38582914
|
G | A | 2 | a0001c0009t0001g0199a0001c0009t0001g0200 | 2 | HG03490.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.14647-2029G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38582914 | ||||||
| chr19:38582914
|
G | C | 1 | a0006c0007t0002g0212 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.14647-2029G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38582914 | ||||||
| chr19:38583019
|
G | A | 1 | a0001c0111t0001g0140 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.14647-1924G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38583019 | ||||||
| chr19:38583056
|
G | A | 2 | a0001c0009t0001g0199a0001c0009t0001g0200 | 2 | HG03490.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.14647-1887G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38583056 | ||||||
| chr19:38583246
|
G | A | 10 | a0001c0002t0001g0141a0001c0009t0001g0199a0001c0009t0001g0200others(7): Show | 10 | HG01891.hp1 HG02080.hp1 HG02083.hp1 others(7): Show |
intron_variant | MODIFIER | c.14647-1697G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38583246 | ||||||
| chr19:38583297
|
C | CA | 25 | a0001c0005t0001g0179a0001c0013t0001g0056a0001c0013t0001g0060others(22): Show | 25 | HG00438.hp2 HG01109.hp1 HG01123.hp2 others(22): Show |
intron_variant | MODIFIER | c.14647-1630dupA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | INFO_REALIGN_3_PRIME | chr19 | 38583297 | |||||
| chr19:38583461
|
G | C | 1 | a0017c0041t0001g0117 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.14647-1482G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38583461 | ||||||
| chr19:38583477
|
CA | C | 169 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0014others(166): Show | 169 | HG00438.hp1 HG00609.hp1 HG00609.hp2 others(166): Show |
intron_variant | MODIFIER | c.14647-1451delA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | INFO_REALIGN_3_PRIME | chr19 | 38583477 | |||||
| chr19:38583477
|
CAA | C | 10 | a0001c0001t0001g0151a0001c0009t0001g0199a0001c0009t0001g0200others(7): Show | 10 | HG01891.hp1 HG02257.hp2 HG03098.hp1 others(7): Show |
intron_variant | MODIFIER | c.14647-1452_14647-1 others(8): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | INFO_REALIGN_3_PRIME | chr19 | 38583477 | |||||
| chr19:38583495
|
T | C | 1 | a0028c0087t0001g0023 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.14647-1448T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38583495 | ||||||
| chr19:38583565
|
G | A | 1 | a0028c0087t0001g0023 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.14647-1378G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38583565 | ||||||
| chr19:38583853
|
G | A | 2 | a0001c0110t0001g0157a0015c0086t0001g0019 | 2 | HG03209.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.14647-1090G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38583853 | ||||||
| chr19:38584034
|
T | G | 1 | a0001c0002t0001g0063 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.14647-909T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38584034 | ||||||
| chr19:38584073
|
C | G | 26 | a0001c0022t0001g0051a0001c0022t0001g0052a0001c0029t0001g0074others(23): Show | 26 | HG00609.hp1 HG01071.hp2 HG01884.hp2 others(23): Show |
intron_variant | MODIFIER | c.14647-870C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38584073 | ||||||
| chr19:38584158
|
C | T | 4 | a0001c0005t0001g0154a0001c0005t0001g0155a0001c0005t0001g0156others(1): Show | 4 | HG01099.hp2 HG01123.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.14647-785C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38584158 | ||||||
| chr19:38584162
|
G | T | 2 | a0001c0068t0002g0209a0001c0119t0001g0189 | 2 | HG00642.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.14647-781G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38584162 | ||||||
| chr19:38584295
|
GC | G | 54 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0013t0001g0056others(51): Show | 54 | HG00438.hp2 HG00609.hp1 HG01071.hp2 others(51): Show |
intron_variant | MODIFIER | c.14647-639delC | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | INFO_REALIGN_3_PRIME | chr19 | 38584295 | |||||
| chr19:38584341
|
C | T | 1 | a0001c0002t0001g0194 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.14647-602C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38584341 | ||||||
| chr19:38584351
|
G | A | 5 | a0001c0056t0001g0135a0001c0058t0001g0001a0004c0115t0004g0216others(2): Show | 5 | HG02559.hp2 HG02630.hp1 HG02647.hp2 others(2): Show |
intron_variant | MODIFIER | c.14647-592G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38584351 | ||||||
| chr19:38584404
|
G | C | 1 | a0001c0001t0001g0064 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.14647-539G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38584404 | ||||||
| chr19:38584414
|
TCCTGGCC others(30): Show |
T | 15 | a0001c0035t0001g0113a0001c0065t0001g0131a0001c0076t0001g0164others(12): Show | 15 | HG00609.hp1 HG01071.hp2 HG01884.hp2 others(12): Show |
intron_variant | MODIFIER | c.14647-514_14647-47 others(41): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | INFO_REALIGN_3_PRIME | chr19 | 38584414 | |||||
| chr19:38584478
|
C | T | 1 | a0001c0110t0001g0157 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.14647-465C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38584478 | ||||||
| chr19:38584521
|
T | TAGCCCTG others(95): Show |
1 | a0005c0107t0001g0042 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.14647-406_14647-30 others(106): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | INFO_REALIGN_3_PRIME | chr19 | 38584521 | |||||
| chr19:38584556
|
G | GGCCCTGA others(129): Show |
1 | a0004c0072t0001g0125 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.14647-277_14647-27 others(140): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | INFO_REALIGN_3_PRIME | chr19 | 38584556 | |||||
| chr19:38584579
|
C | T | 7 | a0001c0013t0001g0056a0001c0013t0001g0060a0001c0031t0001g0159others(4): Show | 7 | HG00438.hp2 HG01123.hp2 HG02074.hp1 others(4): Show |
intron_variant | MODIFIER | c.14647-364C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38584579 | ||||||
| chr19:38584597
|
G | A | 1 | a0028c0087t0001g0023 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.14647-346G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38584597 | ||||||
| chr19:38584635
|
C | G | 3 | a0001c0001t0001g0026a0001c0001t0001g0028a0001c0001t0001g0029 | 3 | HG02809.hp1 HG03098.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.14647-308C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38584635 | ||||||
| chr19:38584653
|
T | TATCCTGG others(26): Show |
1 | a0001c0059t0001g0184 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.14647-264_14647-23 others(37): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | INFO_REALIGN_3_PRIME | chr19 | 38584653 | |||||
| chr19:38584752
|
T | C | 68 | a0001c0001t0001g0022a0001c0005t0001g0179a0001c0009t0001g0199others(65): Show | 68 | HG00438.hp2 HG00609.hp1 HG01071.hp2 others(65): Show |
intron_variant | MODIFIER | c.14647-191T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38584752 | ||||||
| chr19:38584793
|
T | A | 1 | a0001c0002t0001g0124 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.14647-150T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38584793 | ||||||
| chr19:38584907
|
G | A | 4 | a0001c0082t0001g0027a0008c0010t0001g0006a0008c0010t0001g0007others(1): Show | 4 | HG02965.hp1 HG02970.hp2 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.14647-36G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 101/105 | chr19 | 38584907 | ||||||
| chr19:38585369
|
G | GAT | 19 | a0001c0005t0001g0179a0001c0013t0001g0056a0001c0013t0001g0060others(16): Show | 19 | HG00438.hp2 HG01123.hp2 HG01169.hp1 others(16): Show |
intron_variant | MODIFIER | c.14803+287_14803+28 others(6): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | INFO_REALIGN_3_PRIME | chr19 | 38585369 | |||||
| chr19:38585369
|
G | GATAGATA others(21): Show |
1 | a0001c0110t0001g0157 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.14803+273_14803+27 others(32): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | INFO_REALIGN_3_PRIME | chr19 | 38585369 | |||||
| chr19:38585369
|
G | GATAT | 36 | a0001c0022t0001g0051a0001c0022t0001g0052a0001c0029t0001g0074others(33): Show | 36 | HG00609.hp1 HG01071.hp2 HG01109.hp1 others(33): Show |
intron_variant | MODIFIER | c.14803+285_14803+28 others(8): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | INFO_REALIGN_3_PRIME | chr19 | 38585369 | |||||
| chr19:38585369
|
G | GATATAT | 6 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0090t0001g0017others(3): Show | 6 | HG01884.hp2 HG03130.hp2 HG03209.hp1 others(3): Show |
intron_variant | MODIFIER | c.14803+283_14803+28 others(10): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | INFO_REALIGN_3_PRIME | chr19 | 38585369 | |||||
| chr19:38585369
|
G | GATATATA others(7): Show |
1 | a0028c0087t0001g0023 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.14803+275_14803+28 others(18): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | INFO_REALIGN_3_PRIME | chr19 | 38585369 | |||||
| chr19:38585462
|
C | T | 5 | a0001c0056t0001g0135a0001c0058t0001g0001a0004c0115t0004g0216others(2): Show | 5 | HG02559.hp2 HG02630.hp1 HG02647.hp2 others(2): Show |
intron_variant | MODIFIER | c.14803+363C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | chr19 | 38585462 | ||||||
| chr19:38585538
|
A | G | 1 | a0001c0070t0001g0002 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.14804-400A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | chr19 | 38585538 | ||||||
| chr19:38585596
|
C | T | 1 | a0001c0001t0001g0058 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.14804-342C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | chr19 | 38585596 | ||||||
| chr19:38585599
|
G | T | 1 | a0001c0001t0001g0058 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.14804-339G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | chr19 | 38585599 | ||||||
| chr19:38585600
|
A | C | 1 | a0001c0001t0001g0058 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.14804-338A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | chr19 | 38585600 | ||||||
| chr19:38585602
|
T | C | 1 | a0001c0001t0001g0058 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.14804-336T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | chr19 | 38585602 | ||||||
| chr19:38585604
|
G | A | 1 | a0001c0001t0001g0058 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.14804-334G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | chr19 | 38585604 | ||||||
| chr19:38585606
|
T | A | 1 | a0001c0001t0001g0058 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.14804-332T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | chr19 | 38585606 | ||||||
| chr19:38585607
|
G | A | 1 | a0001c0001t0001g0058 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.14804-331G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | chr19 | 38585607 | ||||||
| chr19:38585608
|
G | C | 1 | a0001c0001t0001g0058 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.14804-330G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | chr19 | 38585608 | ||||||
| chr19:38585609
|
G | A | 1 | a0001c0001t0001g0058 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.14804-329G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | chr19 | 38585609 | ||||||
| chr19:38585612
|
T | A | 1 | a0001c0001t0001g0058 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.14804-326T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | chr19 | 38585612 | ||||||
| chr19:38585618
|
C | A | 1 | a0001c0001t0001g0058 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.14804-320C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | chr19 | 38585618 | ||||||
| chr19:38585619
|
A | G | 1 | a0001c0001t0001g0058 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.14804-319A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | chr19 | 38585619 | ||||||
| chr19:38585620
|
C | G | 1 | a0001c0001t0001g0058 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.14804-318C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | chr19 | 38585620 | ||||||
| chr19:38585622
|
T | C | 5 | a0001c0055t0001g0137a0006c0007t0002g0202a0006c0007t0002g0203others(2): Show | 5 | HG01891.hp1 HG02257.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.14804-316T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | chr19 | 38585622 | ||||||
| chr19:38585622
|
T | G | 1 | a0001c0001t0001g0058 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.14804-316T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | chr19 | 38585622 | ||||||
| chr19:38585627
|
C | A | 1 | a0001c0001t0001g0058 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.14804-311C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | chr19 | 38585627 | ||||||
| chr19:38585628
|
C | A | 1 | a0001c0001t0001g0058 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.14804-310C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | chr19 | 38585628 | ||||||
| chr19:38585630
|
C | G | 1 | a0001c0001t0001g0058 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.14804-308C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | chr19 | 38585630 | ||||||
| chr19:38585632
|
C | G | 1 | a0001c0001t0001g0058 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.14804-306C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | chr19 | 38585632 | ||||||
| chr19:38585633
|
C | A | 1 | a0001c0001t0001g0058 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.14804-305C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | chr19 | 38585633 | ||||||
| chr19:38585634
|
C | G | 1 | a0001c0001t0001g0058 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.14804-304C>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | chr19 | 38585634 | ||||||
| chr19:38585637
|
C | A | 1 | a0001c0001t0001g0058 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.14804-301C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | chr19 | 38585637 | ||||||
| chr19:38585639
|
A | T | 1 | a0001c0001t0001g0058 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.14804-299A>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | chr19 | 38585639 | ||||||
| chr19:38585640
|
A | C | 1 | a0001c0001t0001g0058 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.14804-298A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | chr19 | 38585640 | ||||||
| chr19:38585641
|
T | C | 1 | a0001c0001t0001g0058 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.14804-297T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | chr19 | 38585641 | ||||||
| chr19:38585646
|
T | C | 1 | a0001c0001t0001g0058 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.14804-292T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | chr19 | 38585646 | ||||||
| chr19:38585647
|
T | C | 1 | a0001c0001t0001g0058 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.14804-291T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | chr19 | 38585647 | ||||||
| chr19:38585649
|
A | C | 1 | a0001c0001t0001g0058 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.14804-289A>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | chr19 | 38585649 | ||||||
| chr19:38585650
|
T | C | 1 | a0001c0001t0001g0058 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.14804-288T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | chr19 | 38585650 | ||||||
| chr19:38585652
|
T | C | 1 | a0001c0001t0001g0058 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.14804-286T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | chr19 | 38585652 | ||||||
| chr19:38585653
|
T | C | 1 | a0001c0001t0001g0058 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.14804-285T>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | chr19 | 38585653 | ||||||
| chr19:38585654
|
T | G | 5 | a0001c0002t0001g0085a0001c0002t0001g0095a0001c0002t0001g0133others(2): Show | 5 | NA18998.hp2 NA19065.hp1 NA19066.hp2 others(2): Show |
intron_variant | MODIFIER | c.14804-284T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | chr19 | 38585654 | ||||||
| chr19:38585657
|
A | G | 1 | a0001c0001t0001g0058 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.14804-281A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | chr19 | 38585657 | ||||||
| chr19:38585663
|
A | G | 1 | a0001c0001t0001g0058 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.14804-275A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | chr19 | 38585663 | ||||||
| chr19:38585664
|
G | T | 1 | a0001c0001t0001g0058 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.14804-274G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | chr19 | 38585664 | ||||||
| chr19:38585673
|
G | A | 1 | a0001c0001t0001g0058 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.14804-265G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | chr19 | 38585673 | ||||||
| chr19:38585675
|
G | A | 1 | a0001c0001t0001g0058 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.14804-263G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | chr19 | 38585675 | ||||||
| chr19:38585676
|
T | G | 1 | a0001c0001t0001g0058 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.14804-262T>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | chr19 | 38585676 | ||||||
| chr19:38585677
|
T | A | 1 | a0001c0001t0001g0058 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.14804-261T>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | chr19 | 38585677 | ||||||
| chr19:38585814
|
C | T | 7 | a0001c0011t0001g0003a0001c0011t0001g0005a0001c0011t0001g0021others(4): Show | 7 | HG00642.hp2 HG02622.hp1 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.14804-124C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 102/105 | chr19 | 38585814 | ||||||
| chr19:38586207
|
G | A | 2 | a0004c0015t0001g0098a0004c0015t0001g0187 | 2 | HG02615.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.14969+16G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 104/105 | chr19 | 38586207 | ||||||
| chr19:38586223
|
G | C | 16 | a0001c0056t0001g0135a0001c0058t0001g0001a0001c0069t0001g0139others(13): Show | 16 | HG01109.hp1 HG02559.hp2 HG02615.hp2 others(13): Show |
intron_variant | MODIFIER | c.14969+32G>C | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 104/105 | chr19 | 38586223 | ||||||
| chr19:38586250
|
G | A | 1 | a0001c0058t0001g0001 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.14969+59G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 104/105 | chr19 | 38586250 | ||||||
| chr19:38586263
|
C | T | 16 | a0001c0056t0001g0135a0001c0058t0001g0001a0001c0069t0001g0139others(13): Show | 16 | HG01109.hp1 HG02559.hp2 HG02615.hp2 others(13): Show |
intron_variant | MODIFIER | c.14969+72C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 104/105 | chr19 | 38586263 | ||||||
| chr19:38586280
|
AGGGGGT | A | 26 | a0001c0022t0001g0051a0001c0022t0001g0052a0001c0029t0001g0074others(23): Show | 26 | HG00609.hp1 HG01071.hp2 HG01884.hp2 others(23): Show |
intron_variant | MODIFIER | c.14969+91_14969+96d others(8): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 104/105 | INFO_REALIGN_3_PRIME | chr19 | 38586280 | |||||
| chr19:38586321
|
A | G | 1 | a0006c0007t0002g0203 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.14969+130A>G | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 104/105 | chr19 | 38586321 | ||||||
| chr19:38586613
|
G | T | 7 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0014others(4): Show | 7 | HG00733.hp2 HG01257.hp1 HG01258.hp2 others(4): Show |
intron_variant | MODIFIER | c.15021+37G>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 105/105 | chr19 | 38586613 | ||||||
| chr19:38586774
|
C | T | 1 | a0001c0003t0001g0116 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.15021+198C>T | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 105/105 | chr19 | 38586774 | ||||||
| chr19:38586970
|
CA | C | 62 | a0001c0009t0001g0199a0001c0009t0001g0200a0001c0013t0001g0056others(59): Show | 62 | HG00438.hp2 HG00609.hp1 HG01071.hp2 others(59): Show |
intron_variant | MODIFIER | c.15022-347delA | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 105/105 | INFO_REALIGN_3_PRIME | chr19 | 38586970 | |||||
| chr19:38587007
|
G | A | 1 | a0003c0100t0001g0150 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.15022-318G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 105/105 | chr19 | 38587007 | ||||||
| chr19:38587161
|
G | A | 1 | a0028c0087t0001g0023 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.15022-164G>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 105/105 | chr19 | 38587161 | ||||||
| chr19:38587244
|
C | A | 1 | a0001c0069t0001g0139 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.15022-81C>A | RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 105/105 | chr19 | 38587244 | ||||||
| chr19:38587255
|
A | AAT | 16 | a0001c0055t0001g0137a0001c0056t0001g0135a0001c0069t0001g0139others(13): Show | 16 | HG01109.hp1 HG01884.hp2 HG01891.hp1 others(13): Show |
intron_variant | MODIFIER | c.15022-55_15022-54d others(4): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 105/105 | INFO_REALIGN_3_PRIME | chr19 | 38587255 | |||||
| chr19:38587255
|
A | AATAT | 5 | a0001c0058t0001g0001a0001c0110t0001g0157a0004c0115t0004g0216others(2): Show | 5 | HG02630.hp1 HG02647.hp2 HG02897.hp2 others(2): Show |
intron_variant | MODIFIER | c.15022-57_15022-54d others(6): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 105/105 | INFO_REALIGN_3_PRIME | chr19 | 38587255 |