| geneid | 57669 |
|---|---|
| ensemblid | ENSG00000115109.14 |
| hgncid | 19819 |
| symbol | EPB41L5 |
| name | erythrocyte membrane protein band 4.1 like 5 |
| refseq_nuc | NM_020909.4 |
| refseq_prot | NP_065960.2 |
| ensembl_nuc | ENST00000263713.10 |
| ensembl_prot | ENSP00000263713.5 |
| mane_status | MANE Select |
| chr | chr2 |
| start | 120013077 |
| end | 120179119 |
| strand | + |
| ver | v1.2 |
| region | chr2:120013077-120179119 |
| region5000 | chr2:120008077-120184119 |
| regionname0 | EPB41L5_chr2_120013077_120179119 |
| regionname5000 | EPB41L5_chr2_120008077_120184119 |
| 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 | 1/0 | 733 | 141 | 45 | 27 | 54 | 2 | 12 | 47 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| a0002 | 0/1 | 733 | 132 | 30 | 28 | 59 | 2 | 12 | 47 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| a0003 | 0/0 | 733 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| a0004 | 0/0 | 733 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| a0005 | 0/0 | 733 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| a0006 | 0/0 | 733 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| chapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 1/0 | 2202 | 141 | 45 | 27 | 54 | 2 | 12 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| c0002 | 0/1 | 2202 | 131 | 30 | 28 | 58 | 2 | 12 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| c0003 | 0/0 | 2202 | 2 | 2 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| c0004 | 0/0 | 2202 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| c0005 | 0/0 | 2202 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| c0006 | 0/0 | 2202 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| c0007 | 0/0 | 2202 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| 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 | 0/1 | 4355 | 123 | 28 | 26 | 57 | 2 | 9 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| t0002 | 1/0 | 4355 | 84 | 19 | 18 | 33 | 2 | 11 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| t0003 | 0/0 | 4355 | 18 | 0 | 1 | 17 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| t0004 | 0/0 | 4357 | 10 | 7 | 3 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| t0005 | 0/0 | 4357 | 10 | 5 | 4 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| t0006 | 0/0 | 4356 | 9 | 8 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| t0007 | 0/0 | 4355 | 3 | 0 | 0 | 3 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| t0008 | 0/0 | 4357 | 2 | 2 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| t0009 | 0/0 | 4357 | 2 | 2 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| t0010 | 0/0 | 4355 | 2 | 1 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| t0011 | 0/0 | 4398 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| t0012 | 0/0 | 4354 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| t0013 | 0/0 | 4355 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| t0014 | 0/0 | 4355 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| t0015 | 0/0 | 4312 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| t0016 | 0/0 | 4357 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| t0017 | 0/0 | 4356 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| t0018 | 0/0 | 4355 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| t0019 | 0/0 | 4355 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| t0020 | 0/0 | 4312 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| t0021 | 0/0 | 4355 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| t0022 | 0/0 | 4355 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| t0023 | 0/0 | 4355 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| t0024 | 0/0 | 4355 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| t0025 | 0/0 | 4355 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| 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 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0016 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0018 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0021 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0024 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0025 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0026 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0037 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0043 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0044 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0045 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0046 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0050 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0054 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0055 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0064 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0081 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0091 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0098 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0099 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0101 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0107 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0108 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0111 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0112 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0135 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0141 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0142 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0145 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0146 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0150 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0151 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0152 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0153 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0155 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0157 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0158 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0159 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0160 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0162 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0165 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0166 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0167 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0168 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0169 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0170 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0171 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0172 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0173 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0174 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0175 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0176 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0181 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0182 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0183 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0184 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0186 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0191 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0194 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0200 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0201 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0208 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0209 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0210 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0217 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0219 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0221 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0223 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0224 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0225 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0226 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0228 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0229 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0230 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0231 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0232 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0233 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0236 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0237 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0238 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0239 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0240 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0241 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0244 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0245 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0246 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0247 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0248 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0249 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0250 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0251 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0252 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0253 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0254 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0255 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0256 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0257 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0258 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0259 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0260 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0261 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0262 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0263 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0264 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0265 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0266 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0267 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0268 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0269 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0270 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0271 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0272 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0273 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0274 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0275 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0276 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0277 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| g0278 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| achapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/0 | 2202 | 141 | 45 | 27 | 54 | 2 | 12 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| a0002c0002 | 0/1 | 2202 | 131 | 30 | 28 | 58 | 2 | 12 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| a0002c0004 | 0/0 | 2202 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| a0003c0003 | 0/0 | 2202 | 2 | 2 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| a0004c0007 | 0/0 | 2202 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| a0005c0005 | 0/0 | 2202 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| a0006c0006 | 0/0 | 2202 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0002 | 1/0 | 6556 | 83 | 19 | 18 | 32 | 2 | 11 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| a0001c0001t0003 | 0/0 | 6556 | 18 | 0 | 1 | 17 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| a0001c0001t0004 | 0/0 | 6558 | 10 | 7 | 3 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| a0001c0001t0005 | 0/0 | 6558 | 10 | 5 | 4 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| a0001c0001t0006 | 0/0 | 6557 | 7 | 6 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| a0001c0001t0007 | 0/0 | 6556 | 3 | 0 | 0 | 3 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| a0001c0001t0008 | 0/0 | 6558 | 2 | 2 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| a0001c0001t0009 | 0/0 | 6558 | 2 | 2 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| a0001c0001t0011 | 0/0 | 6599 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| a0001c0001t0012 | 0/0 | 6555 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| a0001c0001t0013 | 0/0 | 6556 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| a0001c0001t0015 | 0/0 | 6513 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| a0001c0001t0016 | 0/0 | 6558 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| a0001c0001t0017 | 0/0 | 6557 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| a0002c0002t0001 | 0/1 | 6556 | 121 | 27 | 26 | 56 | 2 | 9 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| a0002c0002t0010 | 0/0 | 6556 | 2 | 1 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| a0002c0002t0018 | 0/0 | 6556 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| a0002c0002t0019 | 0/0 | 6556 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| a0002c0002t0020 | 0/0 | 6513 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| a0002c0002t0021 | 0/0 | 6556 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| a0002c0002t0022 | 0/0 | 6556 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| a0002c0002t0023 | 0/0 | 6556 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| a0002c0002t0024 | 0/0 | 6556 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| a0002c0002t0025 | 0/0 | 6556 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| a0002c0004t0001 | 0/0 | 6556 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| a0003c0003t0006 | 0/0 | 6557 | 2 | 2 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| a0004c0007t0001 | 0/0 | 6556 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| a0005c0005t0002 | 0/0 | 6556 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| a0006c0006t0014 | 0/0 | 6556 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | copy fasta | chr2 | 120008077 | 120184119 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0002g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0016 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0018 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0021 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0024 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0025 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0026 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0037 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0043 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0044 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0045 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0046 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0050 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0054 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0055 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0064 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0091 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0098 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0099 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0101 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0135 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0276 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0277 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0002g0278 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0003g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0003g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0003g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0003g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0003g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0003g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0003g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0003g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0003g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0003g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0003g0081 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0003g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0003g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0003g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0003g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0003g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0003g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0003g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0004g0107 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0004g0108 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0004g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0004g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0004g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0004g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0004g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0004g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0004g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0004g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0005g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0005g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0005g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0005g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0005g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0005g0150 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0005g0151 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0005g0152 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0005g0153 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0005g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0006g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0006g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0006g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0006g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0006g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0006g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0006g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0007g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0007g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0007g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0008g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0008g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0009g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0009g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0011g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0012g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0013g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0015g0274 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0016g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0001c0001t0017g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0141 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0145 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0146 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0155 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0158 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0159 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0162 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0165 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0166 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0167 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0168 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0169 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0170 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0171 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0172 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0173 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0174 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0175 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0176 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0181 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0182 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0183 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0184 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0191 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0194 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0200 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0201 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0208 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0209 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0210 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0217 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0219 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0221 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0223 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0224 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0225 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0226 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0228 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0229 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0230 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0231 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0232 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0233 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0236 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0237 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0238 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0239 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0240 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0241 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0244 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0245 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0246 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0247 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0248 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0249 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0250 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0251 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0252 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0253 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0254 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0255 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0256 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0257 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0258 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0259 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0260 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0261 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0262 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0263 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0264 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0265 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0266 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0267 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0268 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0269 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0271 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0272 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0273 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0001g0275 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0010g0157 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0010g0160 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0018g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0019g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0020g0112 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0021g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0022g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0023g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0024g0186 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0002t0025g0142 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0002c0004t0001g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0003c0003t0006g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0003c0003t0006g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0004c0007t0001g0270 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0005c0005t0002g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| a0006c0006t0014g0111 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00408 | hp1 | a0002 | c0002 | t0001 | g0185 | EAS | CHS | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG00408 | hp2 | a0002 | c0002 | t0001 | g0266 | EAS | CHS | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG00423 | hp1 | a0002 | c0002 | t0001 | g0257 | EAS | CHS | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG00423 | hp2 | a0001 | c0001 | t0011 | g0034 | EAS | CHS | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG00544 | hp1 | a0002 | c0002 | t0001 | g0149 | EAS | CHS | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG00544 | hp2 | a0001 | c0001 | t0002 | g0020 | EAS | CHS | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG00609 | hp1 | a0001 | c0001 | t0002 | g0028 | EAS | CHS | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG00609 | hp2 | a0002 | c0002 | t0022 | g0178 | EAS | CHS | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG00639 | hp1 | a0002 | c0002 | t0001 | g0158 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG00639 | hp2 | a0001 | c0001 | t0002 | g0008 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG00735 | hp1 | a0001 | c0001 | t0006 | g0120 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG00735 | hp2 | a0002 | c0002 | t0001 | g0141 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG00738 | hp1 | a0001 | c0001 | t0004 | g0107 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG00738 | hp2 | a0001 | c0001 | t0002 | g0027 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG00741 | hp1 | a0002 | c0002 | t0001 | g0173 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG00741 | hp2 | a0001 | c0001 | t0004 | g0108 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01069 | hp1 | a0002 | c0002 | t0021 | g0161 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01069 | hp2 | a0001 | c0001 | t0002 | g0022 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01070 | hp1 | a0002 | c0002 | t0001 | g0162 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01070 | hp2 | a0001 | c0001 | t0005 | g0150 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01071 | hp1 | a0001 | c0001 | t0002 | g0024 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01071 | hp2 | a0001 | c0001 | t0005 | g0151 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01081 | hp1 | a0001 | c0001 | t0002 | g0041 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01081 | hp2 | a0002 | c0002 | t0023 | g0148 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01109 | hp1 | a0001 | c0001 | t0002 | g0091 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01109 | hp2 | a0002 | c0002 | t0001 | g0143 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01167 | hp1 | a0002 | c0002 | t0001 | g0168 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01167 | hp2 | a0001 | c0001 | t0002 | g0099 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01169 | hp1 | a0001 | c0001 | t0002 | g0098 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01169 | hp2 | a0002 | c0002 | t0001 | g0183 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01175 | hp1 | a0001 | c0001 | t0002 | g0095 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01175 | hp2 | a0002 | c0002 | t0001 | g0140 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01192 | hp1 | a0001 | c0001 | t0002 | g0062 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01192 | hp2 | a0002 | c0002 | t0001 | g0272 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01243 | hp1 | a0002 | c0002 | t0001 | g0208 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01243 | hp2 | a0001 | c0001 | t0004 | g0130 | AMR | PUR | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01255 | hp1 | a0002 | c0002 | t0001 | g0200 | AMR | CLM | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01255 | hp2 | a0006 | c0006 | t0014 | g0111 | AMR | CLM | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01257 | hp1 | a0002 | c0002 | t0001 | g0225 | AMR | CLM | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01257 | hp2 | a0002 | c0002 | t0001 | g0253 | AMR | CLM | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01261 | hp1 | a0002 | c0002 | t0001 | g0263 | AMR | CLM | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01261 | hp2 | a0002 | c0002 | t0001 | g0201 | AMR | CLM | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01346 | hp1 | a0001 | c0001 | t0005 | g0154 | AMR | CLM | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01346 | hp2 | a0002 | c0002 | t0001 | g0261 | AMR | CLM | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01358 | hp1 | a0001 | c0001 | t0002 | g0026 | AMR | CLM | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01358 | hp2 | a0002 | c0002 | t0001 | g0245 | AMR | CLM | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01433 | hp1 | a0002 | c0002 | t0001 | g0248 | AMR | CLM | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01433 | hp2 | a0001 | c0001 | t0002 | g0056 | AMR | CLM | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01496 | hp1 | a0001 | c0001 | t0003 | g0081 | AMR | CLM | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01496 | hp2 | a0002 | c0002 | t0001 | g0194 | AMR | CLM | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01516 | hp1 | a0002 | c0002 | t0001 | g0262 | EUR | IBS | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01516 | hp2 | a0001 | c0001 | t0002 | g0021 | EUR | IBS | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01517 | hp1 | a0002 | c0002 | t0001 | g0166 | EUR | IBS | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01517 | hp2 | a0001 | c0001 | t0002 | g0101 | EUR | IBS | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01884 | hp1 | a0002 | c0002 | t0001 | g0144 | AFR | ACB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01884 | hp2 | a0002 | c0002 | t0001 | g0136 | AFR | ACB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01891 | hp1 | a0001 | c0001 | t0002 | g0013 | AFR | ACB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01891 | hp2 | a0002 | c0002 | t0001 | g0197 | AFR | ACB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01928 | hp1 | a0001 | c0001 | t0002 | g0038 | AMR | PEL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01928 | hp2 | a0002 | c0002 | t0001 | g0181 | AMR | PEL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01943 | hp1 | a0001 | c0001 | t0005 | g0153 | AMR | PEL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01943 | hp2 | a0001 | c0001 | t0002 | g0023 | AMR | PEL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01952 | hp1 | a0001 | c0001 | t0002 | g0046 | AMR | PEL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01952 | hp2 | a0002 | c0002 | t0001 | g0191 | AMR | PEL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01975 | hp1 | a0001 | c0001 | t0002 | g0039 | AMR | PEL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01975 | hp2 | a0002 | c0002 | t0001 | g0251 | AMR | PEL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01978 | hp1 | a0002 | c0002 | t0001 | g0224 | AMR | PEL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01978 | hp2 | a0001 | c0001 | t0002 | g0040 | AMR | PEL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01981 | hp1 | a0002 | c0002 | t0001 | g0228 | AMR | PEL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG01981 | hp2 | a0002 | c0002 | t0001 | g0182 | AMR | PEL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02055 | hp1 | a0002 | c0002 | t0001 | g0202 | AFR | ACB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02055 | hp2 | a0001 | c0001 | t0002 | g0001 | AFR | ACB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02083 | hp1 | a0002 | c0002 | t0001 | g0195 | EAS | KHV | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02083 | hp2 | a0005 | c0005 | t0002 | g0057 | EAS | KHV | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02129 | hp1 | a0002 | c0002 | t0001 | g0164 | EAS | KHV | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02129 | hp2 | a0002 | c0002 | t0001 | g0212 | EAS | KHV | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02132 | hp1 | a0002 | c0002 | t0001 | g0139 | EAS | KHV | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02132 | hp2 | a0001 | c0001 | t0003 | g0084 | EAS | KHV | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02135 | hp1 | a0002 | c0002 | t0001 | g0273 | EAS | KHV | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02135 | hp2 | a0001 | c0001 | t0002 | g0051 | EAS | KHV | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02148 | hp1 | a0002 | c0002 | t0001 | g0174 | AMR | PEL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02148 | hp2 | a0001 | c0001 | t0002 | g0042 | AMR | PEL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02155 | hp1 | a0001 | c0001 | t0002 | g0063 | EAS | CDX | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02155 | hp2 | a0002 | c0002 | t0001 | g0192 | EAS | CDX | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02257 | hp1 | a0001 | c0001 | t0002 | g0103 | AFR | ACB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02257 | hp2 | a0004 | c0007 | t0001 | g0270 | AFR | ACB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02280 | hp1 | a0002 | c0002 | t0010 | g0157 | AFR | ACB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02280 | hp2 | a0002 | c0002 | t0001 | g0215 | AFR | ACB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02451 | hp1 | a0001 | c0001 | t0002 | g0088 | AFR | ACB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02451 | hp2 | a0001 | c0001 | t0002 | g0059 | AFR | ACB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02523 | hp1 | a0001 | c0001 | t0002 | g0097 | EAS | KHV | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02523 | hp2 | a0002 | c0002 | t0001 | g0229 | EAS | KHV | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02572 | hp1 | a0001 | c0001 | t0004 | g0114 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02572 | hp2 | a0001 | c0001 | t0002 | g0060 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02615 | hp1 | a0002 | c0002 | t0001 | g0206 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02615 | hp2 | a0001 | c0001 | t0017 | g0007 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02622 | hp1 | a0001 | c0001 | t0009 | g0138 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02622 | hp2 | a0002 | c0002 | t0001 | g0214 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02630 | hp1 | a0002 | c0002 | t0001 | g0216 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02630 | hp2 | a0001 | c0001 | t0006 | g0126 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02647 | hp1 | a0001 | c0001 | t0006 | g0127 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02647 | hp2 | a0001 | c0001 | t0002 | g0061 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02683 | hp1 | a0001 | c0001 | t0002 | g0044 | SAS | PJL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02683 | hp2 | a0001 | c0001 | t0005 | g0152 | SAS | PJL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02698 | hp1 | a0001 | c0001 | t0002 | g0025 | SAS | PJL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02698 | hp2 | a0002 | c0002 | t0001 | g0172 | SAS | PJL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02738 | hp1 | a0002 | c0002 | t0001 | g0167 | SAS | PJL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02738 | hp2 | a0001 | c0001 | t0002 | g0064 | SAS | PJL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02809 | hp1 | a0001 | c0001 | t0004 | g0115 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02809 | hp2 | a0002 | c0002 | t0001 | g0171 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02818 | hp1 | a0002 | c0002 | t0001 | g0217 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02818 | hp2 | a0001 | c0001 | t0004 | g0131 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02886 | hp1 | a0001 | c0001 | t0004 | g0116 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02886 | hp2 | a0002 | c0002 | t0001 | g0170 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02895 | hp1 | a0001 | c0001 | t0004 | g0118 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02895 | hp2 | a0001 | c0001 | t0002 | g0015 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02896 | hp1 | a0001 | c0001 | t0006 | g0121 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02896 | hp2 | a0001 | c0001 | t0002 | g0009 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02897 | hp1 | a0001 | c0001 | t0006 | g0122 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02897 | hp2 | a0001 | c0001 | t0002 | g0014 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02922 | hp1 | a0001 | c0001 | t0005 | g0005 | AFR | ESN | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02922 | hp2 | a0001 | c0001 | t0002 | g0019 | AFR | ESN | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02976 | hp1 | a0002 | c0002 | t0001 | g0218 | AFR | ESN | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02976 | hp2 | a0001 | c0001 | t0012 | g0124 | AFR | ESN | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03017 | hp1 | a0002 | c0002 | t0001 | g0159 | SAS | PJL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03017 | hp2 | a0001 | c0001 | t0002 | g0037 | SAS | PJL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03041 | hp1 | a0002 | c0002 | t0001 | g0271 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03041 | hp2 | a0001 | c0001 | t0002 | g0090 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03098 | hp1 | a0001 | c0001 | t0002 | g0276 | AFR | MSL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03098 | hp2 | a0001 | c0001 | t0006 | g0128 | AFR | MSL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03139 | hp1 | a0003 | c0003 | t0006 | g0125 | AFR | ESN | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03139 | hp2 | a0001 | c0001 | t0002 | g0012 | AFR | ESN | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03195 | hp1 | a0001 | c0001 | t0015 | g0274 | AFR | ESN | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03195 | hp2 | a0002 | c0002 | t0001 | g0187 | AFR | ESN | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03209 | hp1 | a0001 | c0001 | t0008 | g0134 | AFR | MSL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03209 | hp2 | a0002 | c0002 | t0001 | g0219 | AFR | MSL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03225 | hp1 | a0002 | c0002 | t0001 | g0193 | AFR | MSL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03225 | hp2 | a0001 | c0001 | t0006 | g0129 | AFR | MSL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03239 | hp1 | a0001 | c0001 | t0002 | g0043 | SAS | PJL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03239 | hp2 | a0002 | c0002 | t0001 | g0184 | SAS | PJL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03453 | hp1 | a0002 | c0002 | t0018 | g0207 | AFR | MSL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03453 | hp2 | a0001 | c0001 | t0005 | g0003 | AFR | MSL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03486 | hp1 | a0001 | c0001 | t0002 | g0132 | AFR | MSL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03486 | hp2 | a0002 | c0002 | t0001 | g0213 | AFR | MSL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03516 | hp1 | a0001 | c0001 | t0004 | g0113 | AFR | ESN | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03516 | hp2 | a0002 | c0002 | t0001 | g0267 | AFR | ESN | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03540 | hp1 | a0001 | c0001 | t0008 | g0133 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03540 | hp2 | a0003 | c0003 | t0006 | g0123 | AFR | GWD | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03579 | hp1 | a0001 | c0001 | t0005 | g0006 | AFR | MSL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03579 | hp2 | a0002 | c0002 | t0001 | g0163 | AFR | MSL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03669 | hp1 | a0002 | c0002 | t0001 | g0169 | SAS | PJL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03669 | hp2 | a0001 | c0001 | t0002 | g0055 | SAS | PJL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03831 | hp1 | a0001 | c0001 | t0002 | g0016 | SAS | BEB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03831 | hp2 | a0002 | c0002 | t0020 | g0112 | SAS | BEB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03834 | hp1 | a0002 | c0002 | t0001 | g0165 | SAS | BEB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03834 | hp2 | a0001 | c0001 | t0002 | g0050 | SAS | BEB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03942 | hp1 | a0001 | c0001 | t0002 | g0054 | SAS | BEB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03942 | hp2 | a0002 | c0002 | t0010 | g0160 | SAS | BEB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG04115 | hp1 | a0002 | c0002 | t0001 | g0146 | SAS | STU | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG04115 | hp2 | a0002 | c0002 | t0025 | g0142 | SAS | STU | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG04204 | hp1 | a0001 | c0001 | t0002 | g0018 | SAS | STU | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG04204 | hp2 | a0002 | c0002 | t0001 | g0238 | SAS | STU | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18942 | hp1 | a0001 | c0001 | t0002 | g0100 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18942 | hp2 | a0002 | c0002 | t0001 | g0235 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18943 | hp1 | a0001 | c0001 | t0002 | g0058 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18943 | hp2 | a0002 | c0002 | t0001 | g0256 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18946 | hp1 | a0002 | c0002 | t0001 | g0222 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18946 | hp2 | a0001 | c0001 | t0002 | g0036 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18947 | hp1 | a0001 | c0001 | t0003 | g0083 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18947 | hp2 | a0002 | c0002 | t0001 | g0243 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18948 | hp1 | a0002 | c0002 | t0001 | g0220 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18948 | hp2 | a0001 | c0001 | t0002 | g0010 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18949 | hp1 | a0002 | c0002 | t0001 | g0239 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18949 | hp2 | a0001 | c0001 | t0003 | g0073 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18950 | hp1 | a0002 | c0002 | t0001 | g0249 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18950 | hp2 | a0001 | c0001 | t0002 | g0032 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18954 | hp1 | a0001 | c0001 | t0002 | g0052 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18954 | hp2 | a0002 | c0002 | t0001 | g0275 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18957 | hp1 | a0001 | c0001 | t0003 | g0077 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18957 | hp2 | a0002 | c0002 | t0001 | g0241 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18959 | hp1 | a0002 | c0002 | t0001 | g0205 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18959 | hp2 | a0001 | c0001 | t0002 | g0092 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18960 | hp1 | a0001 | c0001 | t0007 | g0075 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18960 | hp2 | a0002 | c0002 | t0001 | g0232 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18965 | hp1 | a0002 | c0002 | t0001 | g0259 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18965 | hp2 | a0001 | c0001 | t0003 | g0082 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18967 | hp1 | a0002 | c0004 | t0001 | g0190 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18967 | hp2 | a0001 | c0001 | t0002 | g0278 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18968 | hp1 | a0002 | c0002 | t0001 | g0260 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18968 | hp2 | a0001 | c0001 | t0002 | g0277 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18969 | hp1 | a0002 | c0002 | t0001 | g0246 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18969 | hp2 | a0001 | c0001 | t0003 | g0096 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18970 | hp1 | a0002 | c0002 | t0001 | g0265 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18970 | hp2 | a0001 | c0001 | t0003 | g0072 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18972 | hp1 | a0001 | c0001 | t0002 | g0106 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18972 | hp2 | a0002 | c0002 | t0001 | g0227 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18977 | hp1 | a0002 | c0002 | t0001 | g0244 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18977 | hp2 | a0001 | c0001 | t0002 | g0017 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18979 | hp1 | a0002 | c0002 | t0001 | g0199 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18979 | hp2 | a0001 | c0001 | t0002 | g0033 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18983 | hp1 | a0002 | c0002 | t0001 | g0250 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18983 | hp2 | a0001 | c0001 | t0002 | g0093 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18990 | hp1 | a0001 | c0001 | t0002 | g0094 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18990 | hp2 | a0002 | c0002 | t0001 | g0268 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18991 | hp1 | a0001 | c0001 | t0003 | g0070 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18991 | hp2 | a0002 | c0002 | t0001 | g0226 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18993 | hp1 | a0002 | c0002 | t0001 | g0234 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18993 | hp2 | a0001 | c0001 | t0002 | g0065 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18995 | hp1 | a0001 | c0001 | t0002 | g0047 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18995 | hp2 | a0002 | c0002 | t0001 | g0240 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18998 | hp1 | a0001 | c0001 | t0003 | g0085 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18998 | hp2 | a0002 | c0002 | t0019 | g0203 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18999 | hp1 | a0002 | c0002 | t0001 | g0177 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18999 | hp2 | a0001 | c0001 | t0002 | g0029 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19000 | hp1 | a0002 | c0002 | t0001 | g0180 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19000 | hp2 | a0001 | c0001 | t0003 | g0068 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19001 | hp1 | a0002 | c0002 | t0001 | g0223 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19001 | hp2 | a0001 | c0001 | t0002 | g0110 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19004 | hp1 | a0002 | c0002 | t0001 | g0247 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19004 | hp2 | a0001 | c0001 | t0003 | g0086 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19005 | hp1 | a0002 | c0002 | t0001 | g0264 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19005 | hp2 | a0001 | c0001 | t0003 | g0076 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19007 | hp1 | a0002 | c0002 | t0001 | g0204 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19007 | hp2 | a0001 | c0001 | t0003 | g0078 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19010 | hp1 | a0002 | c0002 | t0001 | g0189 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19010 | hp2 | a0001 | c0001 | t0003 | g0069 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19030 | hp1 | a0002 | c0002 | t0001 | g0211 | AFR | LWK | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19030 | hp2 | a0002 | c0002 | t0001 | g0198 | AFR | LWK | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19043 | hp1 | a0001 | c0001 | t0002 | g0053 | AFR | LWK | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19043 | hp2 | a0002 | c0002 | t0001 | g0175 | AFR | LWK | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19060 | hp1 | a0001 | c0001 | t0002 | g0049 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19060 | hp2 | a0002 | c0002 | t0001 | g0236 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19062 | hp1 | a0001 | c0001 | t0002 | g0048 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19062 | hp2 | a0002 | c0002 | t0001 | g0255 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19064 | hp1 | a0002 | c0002 | t0001 | g0242 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19064 | hp2 | a0001 | c0001 | t0002 | g0105 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19066 | hp1 | a0002 | c0002 | t0001 | g0254 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19066 | hp2 | a0001 | c0001 | t0003 | g0087 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19074 | hp1 | a0002 | c0002 | t0001 | g0269 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19074 | hp2 | a0001 | c0001 | t0002 | g0035 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19077 | hp1 | a0001 | c0001 | t0002 | g0067 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19077 | hp2 | a0002 | c0002 | t0001 | g0221 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19080 | hp1 | a0001 | c0001 | t0002 | g0030 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19080 | hp2 | a0002 | c0002 | t0001 | g0230 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19082 | hp1 | a0001 | c0001 | t0007 | g0079 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19082 | hp2 | a0002 | c0002 | t0001 | g0231 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19083 | hp1 | a0002 | c0002 | t0001 | g0147 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19083 | hp2 | a0001 | c0001 | t0007 | g0074 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19084 | hp1 | a0002 | c0002 | t0001 | g0156 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19084 | hp2 | a0001 | c0001 | t0002 | g0080 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19088 | hp1 | a0001 | c0001 | t0002 | g0066 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19088 | hp2 | a0002 | c0002 | t0001 | g0258 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19089 | hp1 | a0002 | c0002 | t0001 | g0233 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19089 | hp2 | a0001 | c0001 | t0002 | g0031 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19090 | hp1 | a0001 | c0001 | t0003 | g0071 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19090 | hp2 | a0002 | c0002 | t0001 | g0252 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19091 | hp1 | a0001 | c0001 | t0013 | g0104 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA19091 | hp2 | a0002 | c0002 | t0001 | g0237 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA20129 | hp1 | a0001 | c0001 | t0002 | g0102 | AFR | ASW | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA20129 | hp2 | a0002 | c0002 | t0001 | g0209 | AFR | ASW | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA20905 | hp1 | a0001 | c0001 | t0002 | g0045 | SAS | GIH | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA20905 | hp2 | a0002 | c0002 | t0001 | g0145 | SAS | GIH | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02109 | hp1 | a0001 | c0001 | t0009 | g0137 | AFR | ACB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02109 | hp2 | a0001 | c0001 | t0016 | g0119 | AFR | ACB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02486 | hp1 | a0001 | c0001 | t0005 | g0004 | AFR | ACB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02486 | hp2 | a0002 | c0002 | t0001 | g0210 | AFR | ACB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02559 | hp1 | a0001 | c0001 | t0002 | g0089 | AFR | ACB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG02559 | hp2 | a0001 | c0001 | t0005 | g0002 | AFR | ACB | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03471 | hp1 | a0001 | c0001 | t0004 | g0117 | AFR | MSL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| HG03471 | hp2 | a0002 | c0002 | t0024 | g0186 | AFR | MSL | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18955 | hp1 | a0002 | c0002 | t0001 | g0179 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA18955 | hp2 | a0001 | c0001 | t0003 | g0011 | EAS | JPT | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA20300 | hp1 | a0002 | c0002 | t0001 | g0188 | AFR | USA | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA20300 | hp2 | a0002 | c0002 | t0001 | g0155 | AFR | USA | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA21309 | hp1 | a0002 | c0002 | t0001 | g0196 | AFR | LWK | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| NA21309 | hp2 | a0001 | c0001 | t0002 | g0109 | AFR | LWK | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| homoSapiens_chm13v2 | hp1 | a0002 | c0002 | t0001 | g0176 | REF | REF | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| homoSapiens_grch38 | hp1 | a0001 | c0001 | t0002 | g0135 | REF | REF | EPB41L5_chr2_120008077_120184119 | EPB41L5 | chr2 | 120008077 | 120184119 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:120019215
|
C | T | 1 | a0004 | 1 | HG02257.hp2 | missense_variant | MODERATE | c.131C>T | p.Thr44Met | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/25 | 273/6556 | 131/2202 | 44/733 | chr2 | 120019215 | ||
| chr2:120090473
|
C | T | 1 | a0006 | 1 | HG01255.hp2 | missense_variant | MODERATE | c.1000C>T | p.His334Tyr | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 12/25 | 1142/6556 | 1000/2202 | 334/733 | chr2 | 120090473 | ||
| chr2:120127734
|
G | A | 2 | a0002a0004 | 133 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(130): Show |
missense_variant | MODERATE | c.1384G>A | p.Ala462Thr | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/25 | 1526/6556 | 1384/2202 | 462/733 | chr2 | 120127734 | ||
| chr2:120160937
|
T | A | 1 | a0003 | 2 | HG03139.hp1 HG03540.hp2 |
missense_variant | MODERATE | c.1850T>A | p.Met617Lys | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/25 | 1992/6556 | 1850/2202 | 617/733 | chr2 | 120160937 | ||
| chr2:120167883
|
G | C | 1 | a0005 | 1 | HG02083.hp2 | missense_variant | MODERATE | c.2011G>C | p.Gly671Arg | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/25 | 2153/6556 | 2011/2202 | 671/733 | chr2 | 120167883 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:120077047
|
T | C | 1 | a0002c0004 | 1 | NA18967.hp1 | synonymous_variant | LOW | c.582T>C | p.Thr194Thr | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 8/25 | 724/6556 | 582/2202 | 194/733 | chr2 | 120077047 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:120013132
|
A | C | 13 | a0001c0001t0005a0002c0002t0001a0002c0002t0010others(10): Show | 143 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(140): Show |
5_prime_UTR_variant | MODIFIER | c.-87A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/25 | 5953 | chr2 | 120013132 | |||||
| chr2:120013199
|
T | A | 1 | a0001c0001t0011 | 1 | HG00423.hp2 | 5_prime_UTR_variant | MODIFIER | c.-20T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/25 | 5886 | chr2 | 120013199 | |||||
| chr2:120175418
|
C | CTT | 8 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(5): Show | 35 | HG00735.hp1 HG00738.hp1 HG00741.hp2 others(32): Show |
3_prime_UTR_variant | MODIFIER | c.*524_*525dupTT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 526 | INFO_REALIGN_3_PRIME | chr2 | 120175418 | ||||
| chr2:120175722
|
G | A | 8 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(5): Show | 34 | HG00735.hp1 HG00738.hp1 HG00741.hp2 others(31): Show |
3_prime_UTR_variant | MODIFIER | c.*815G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 815 | chr2 | 120175722 | |||||
| chr2:120175926
|
G | T | 1 | a0002c0002t0025 | 1 | HG04115.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1019G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 1019 | chr2 | 120175926 | |||||
| chr2:120176201
|
T | C | 1 | a0001c0001t0008 | 2 | HG03209.hp1 HG03540.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1294T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 1294 | chr2 | 120176201 | |||||
| chr2:120176262
|
A | T | 1 | a0002c0002t0010 | 2 | HG02280.hp1 HG03942.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1355A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 1355 | chr2 | 120176262 | |||||
| chr2:120176321
|
A | G | 1 | a0002c0002t0024 | 1 | HG03471.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1414A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 1414 | chr2 | 120176321 | |||||
| chr2:120176522
|
G | T | 8 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(5): Show | 35 | HG00735.hp1 HG00738.hp1 HG00741.hp2 others(32): Show |
3_prime_UTR_variant | MODIFIER | c.*1615G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 1615 | chr2 | 120176522 | |||||
| chr2:120176548
|
G | T | 1 | a0002c0002t0023 | 1 | HG01081.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1641G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 1641 | chr2 | 120176548 | |||||
| chr2:120176549
|
A | T | 1 | a0002c0002t0023 | 1 | HG01081.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1642A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 1642 | chr2 | 120176549 | |||||
| chr2:120176703
|
A | C | 1 | a0002c0002t0022 | 1 | HG00609.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1796A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 1796 | chr2 | 120176703 | |||||
| chr2:120177269
|
T | C | 1 | a0002c0002t0018 | 1 | HG03453.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2362T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 2362 | chr2 | 120177269 | |||||
| chr2:120177320
|
G | A | 1 | a0001c0001t0007 | 3 | NA18960.hp1 NA19082.hp1 NA19083.hp2 |
3_prime_UTR_variant | MODIFIER | c.*2413G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 2413 | chr2 | 120177320 | |||||
| chr2:120177589
|
A | G | 1 | a0002c0002t0021 | 1 | HG01069.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2682A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 2682 | chr2 | 120177589 | |||||
| chr2:120177653
|
C | T | 1 | a0001c0001t0017 | 1 | HG02615.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2746C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 2746 | chr2 | 120177653 | |||||
| chr2:120177706
|
C | T | 1 | a0001c0001t0003 | 18 | HG01496.hp1 HG02132.hp2 NA18947.hp1 others(15): Show |
3_prime_UTR_variant | MODIFIER | c.*2799C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 2799 | chr2 | 120177706 | |||||
| chr2:120177843
|
T | C | 1 | a0001c0001t0008 | 2 | HG03209.hp1 HG03540.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2936T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 2936 | chr2 | 120177843 | |||||
| chr2:120177881
|
AT | A | 4 | a0001c0001t0006a0001c0001t0012a0001c0001t0017others(1): Show | 11 | HG00735.hp1 HG02615.hp2 HG02630.hp2 others(8): Show |
3_prime_UTR_variant | MODIFIER | c.*2975delT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 2975 | chr2 | 120177881 | |||||
| chr2:120177972
|
T | C | 1 | a0001c0001t0017 | 1 | HG02615.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3065T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 3065 | chr2 | 120177972 | |||||
| chr2:120178276
|
T | C | 1 | a0001c0001t0013 | 1 | NA19091.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3369T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 3369 | chr2 | 120178276 | |||||
| chr2:120178346
|
G | GCTGTTGT others(36): Show |
1 | a0001c0001t0011 | 1 | HG00423.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3520_*3562dupCTCC others(39): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 3563 | INFO_REALIGN_3_PRIME | chr2 | 120178346 | ||||
| chr2:120178346
|
GCTGTTGT others(36): Show |
G | 2 | a0001c0001t0015a0002c0002t0020 | 2 | HG03195.hp1 HG03831.hp2 |
3_prime_UTR_variant | MODIFIER | c.*3520_*3562delCTCC others(39): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 3520 | INFO_REALIGN_3_PRIME | chr2 | 120178346 | ||||
| chr2:120178469
|
G | C | 1 | a0002c0002t0019 | 1 | NA18998.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3562G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 3562 | chr2 | 120178469 | |||||
| chr2:120178916
|
A | G | 1 | a0006c0006t0014 | 1 | HG01255.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4009A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 25/25 | 4009 | chr2 | 120178916 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:120013225
|
C | CGGCGGCG others(13): Show |
1 | a0001c0001t0017g0007 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.-9+17_-9+36dupGCGG others(16): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr2 | 120013225 | |||||
| chr2:120013227
|
G | GCGGCGGC others(13): Show |
1 | a0001c0001t0002g0276 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-9+19_-9+38dupGGCG others(16): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr2 | 120013227 | |||||
| chr2:120013234
|
C | T | 2 | a0001c0001t0002g0277a0001c0001t0002g0278 | 2 | NA18967.hp2 NA18968.hp2 |
intron_variant | MODIFIER | c.-9+24C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120013234 | ||||||
| chr2:120013247
|
T | C | 6 | a0001c0001t0002g0001a0001c0001t0005g0002a0001c0001t0005g0003others(3): Show | 6 | HG02055.hp2 HG02486.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.-9+37T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120013247 | ||||||
| chr2:120013281
|
G | A | 108 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(105): Show | 108 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(105): Show |
intron_variant | MODIFIER | c.-9+71G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120013281 | ||||||
| chr2:120013302
|
C | T | 1 | a0006c0006t0014g0111 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.-9+92C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120013302 | ||||||
| chr2:120013352
|
G | A | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.-9+142G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120013352 | ||||||
| chr2:120013380
|
A | G | 1 | a0001c0001t0002g0110 | 1 | NA19001.hp2 | intron_variant | MODIFIER | c.-9+170A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120013380 | ||||||
| chr2:120013381
|
T | C | 2 | a0001c0001t0002g0008a0001c0001t0002g0009 | 2 | HG00639.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.-9+171T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120013381 | ||||||
| chr2:120013682
|
G | A | 1 | a0002c0002t0020g0112 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.-9+472G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120013682 | ||||||
| chr2:120014030
|
C | T | 1 | a0001c0001t0002g0109 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-9+820C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120014030 | ||||||
| chr2:120014226
|
T | C | 21 | a0001c0001t0002g0132a0001c0001t0004g0113a0001c0001t0004g0114others(18): Show | 21 | HG00735.hp1 HG01243.hp2 HG02109.hp2 others(18): Show |
intron_variant | MODIFIER | c.-9+1016T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120014226 | ||||||
| chr2:120014252
|
A | G | 1 | a0002c0002t0001g0275 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.-9+1042A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120014252 | ||||||
| chr2:120014486
|
A | G | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.-9+1276A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120014486 | ||||||
| chr2:120014548
|
A | T | 1 | a0001c0001t0015g0274 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.-9+1338A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120014548 | ||||||
| chr2:120014655
|
C | T | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.-9+1445C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120014655 | ||||||
| chr2:120014944
|
G | C | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.-9+1734G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120014944 | ||||||
| chr2:120014971
|
TA | T | 144 | a0001c0001t0002g0110a0001c0001t0004g0107a0001c0001t0004g0108others(141): Show | 144 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(141): Show |
intron_variant | MODIFIER | c.-9+1775delA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr2 | 120014971 | |||||
| chr2:120015015
|
A | AT | 7 | a0001c0001t0002g0105a0001c0001t0002g0106a0001c0001t0005g0002others(4): Show | 7 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.-9+1815dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr2 | 120015015 | |||||
| chr2:120015109
|
G | A | 6 | a0002c0002t0001g0140a0002c0002t0001g0141a0002c0002t0001g0143others(3): Show | 6 | HG00735.hp2 HG01109.hp2 HG01175.hp2 others(3): Show |
intron_variant | MODIFIER | c.-9+1899G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120015109 | ||||||
| chr2:120015183
|
C | T | 1 | a0002c0002t0001g0273 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.-9+1973C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120015183 | ||||||
| chr2:120015193
|
G | T | 1 | a0002c0002t0001g0272 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.-9+1983G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120015193 | ||||||
| chr2:120015320
|
C | CA | 34 | a0001c0001t0002g0010a0001c0001t0002g0012a0001c0001t0003g0011others(31): Show | 34 | HG00544.hp1 HG00735.hp1 HG00738.hp1 others(31): Show |
intron_variant | MODIFIER | c.-9+2126dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr2 | 120015320 | |||||
| chr2:120015526
|
C | T | 275 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(272): Show | 275 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(272): Show |
intron_variant | MODIFIER | c.-9+2316C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120015526 | ||||||
| chr2:120015581
|
T | G | 1 | a0002c0002t0001g0140 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.-9+2371T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120015581 | ||||||
| chr2:120015826
|
C | T | 1 | a0002c0002t0001g0271 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.-9+2616C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120015826 | ||||||
| chr2:120015872
|
G | A | 1 | a0002c0002t0001g0155 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.-9+2662G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120015872 | ||||||
| chr2:120015907
|
TA | T | 84 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(81): Show | 84 | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(81): Show |
intron_variant | MODIFIER | c.-9+2716delA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr2 | 120015907 | |||||
| chr2:120015947
|
A | G | 1 | a0002c0002t0001g0205 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.-9+2737A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120015947 | ||||||
| chr2:120015952
|
A | G | 1 | a0001c0001t0002g0132 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.-9+2742A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120015952 | ||||||
| chr2:120015955
|
C | A | 1 | a0002c0002t0001g0206 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.-9+2745C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120015955 | ||||||
| chr2:120015990
|
A | G | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.-9+2780A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120015990 | ||||||
| chr2:120015991
|
C | T | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.-9+2781C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120015991 | ||||||
| chr2:120016044
|
T | G | 1 | a0002c0002t0018g0207 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.-9+2834T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120016044 | ||||||
| chr2:120016082
|
T | C | 132 | a0002c0002t0001g0139a0002c0002t0001g0140a0002c0002t0001g0141others(129): Show | 132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.-9+2872T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120016082 | ||||||
| chr2:120016200
|
C | T | 2 | a0001c0001t0004g0130a0001c0001t0004g0131 | 2 | HG01243.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.-8-2877C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120016200 | ||||||
| chr2:120016204
|
C | T | 1 | a0001c0001t0013g0104 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-8-2873C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120016204 | ||||||
| chr2:120016301
|
G | A | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.-8-2776G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120016301 | ||||||
| chr2:120016384
|
C | T | 145 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(142): Show | 145 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(142): Show |
intron_variant | MODIFIER | c.-8-2693C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120016384 | ||||||
| chr2:120016394
|
C | T | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.-8-2683C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120016394 | ||||||
| chr2:120016428
|
C | CA | 6 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(3): Show | 6 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.-8-2638dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr2 | 120016428 | |||||
| chr2:120016460
|
G | A | 132 | a0002c0002t0001g0139a0002c0002t0001g0140a0002c0002t0001g0141others(129): Show | 132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.-8-2617G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120016460 | ||||||
| chr2:120016813
|
A | G | 1 | a0004c0007t0001g0270 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.-8-2264A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120016813 | ||||||
| chr2:120017045
|
A | T | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.-8-2032A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120017045 | ||||||
| chr2:120017053
|
C | G | 275 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(272): Show | 275 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(272): Show |
intron_variant | MODIFIER | c.-8-2024C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120017053 | ||||||
| chr2:120017265
|
C | G | 144 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(141): Show | 144 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(141): Show |
intron_variant | MODIFIER | c.-8-1812C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120017265 | ||||||
| chr2:120017783
|
A | G | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.-8-1294A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120017783 | ||||||
| chr2:120017892
|
G | A | 107 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(104): Show | 107 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(104): Show |
intron_variant | MODIFIER | c.-8-1185G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120017892 | ||||||
| chr2:120017963
|
A | AT | 109 | a0001c0001t0002g0132a0001c0001t0004g0107a0001c0001t0004g0108others(106): Show | 109 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(106): Show |
intron_variant | MODIFIER | c.-8-1098dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr2 | 120017963 | |||||
| chr2:120017963
|
A | ATT | 5 | a0002c0002t0001g0204a0002c0002t0001g0267a0002c0002t0001g0268others(2): Show | 5 | HG03516.hp2 NA18990.hp2 NA18998.hp2 others(2): Show |
intron_variant | MODIFIER | c.-8-1099_-8-1098dup others(2): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr2 | 120017963 | |||||
| chr2:120018030
|
C | T | 1 | a0002c0002t0001g0266 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.-8-1047C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120018030 | ||||||
| chr2:120018088
|
G | C | 107 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(104): Show | 107 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(104): Show |
intron_variant | MODIFIER | c.-8-989G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120018088 | ||||||
| chr2:120018188
|
C | T | 10 | a0001c0001t0006g0120a0001c0001t0006g0121a0001c0001t0006g0122others(7): Show | 10 | HG00735.hp1 HG02630.hp2 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.-8-889C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120018188 | ||||||
| chr2:120018370
|
A | T | 1 | a0001c0001t0009g0138 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-8-707A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120018370 | ||||||
| chr2:120018738
|
C | G | 2 | a0001c0001t0002g0102a0001c0001t0002g0103 | 2 | HG02257.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.-8-339C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120018738 | ||||||
| chr2:120018926
|
G | A | 1 | a0002c0002t0001g0163 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-8-151G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120018926 | ||||||
| chr2:120019003
|
C | G | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.-8-74C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120019003 | ||||||
| chr2:120019050
|
G | A | 1 | a0001c0001t0002g0277 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.-8-27G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 1/24 | chr2 | 120019050 | ||||||
| chr2:120019396
|
T | C | 1 | a0001c0001t0002g0013 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.180+132T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120019396 | ||||||
| chr2:120019396
|
TG | T | 144 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(141): Show | 144 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(141): Show |
intron_variant | MODIFIER | c.180+133delG | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120019396 | ||||||
| chr2:120019412
|
A | G | 9 | a0002c0002t0001g0146a0002c0002t0001g0156a0002c0002t0001g0158others(6): Show | 9 | HG00639.hp1 HG01069.hp1 HG01070.hp1 others(6): Show |
intron_variant | MODIFIER | c.180+148A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120019412 | ||||||
| chr2:120019893
|
T | C | 2 | a0001c0001t0002g0014a0001c0001t0002g0015 | 2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.180+629T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120019893 | ||||||
| chr2:120019907
|
A | G | 20 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(17): Show | 20 | HG00735.hp1 HG01243.hp2 HG02109.hp2 others(17): Show |
intron_variant | MODIFIER | c.180+643A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120019907 | ||||||
| chr2:120019911
|
AT | A | 272 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(269): Show | 272 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(269): Show |
intron_variant | MODIFIER | c.180+659delT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr2 | 120019911 | |||||
| chr2:120020000
|
T | C | 1 | a0002c0002t0001g0223 | 1 | NA19001.hp1 | intron_variant | MODIFIER | c.180+736T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120020000 | ||||||
| chr2:120020124
|
C | T | 144 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(141): Show | 144 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(141): Show |
intron_variant | MODIFIER | c.180+860C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120020124 | ||||||
| chr2:120020595
|
CA | C | 132 | a0002c0002t0001g0139a0002c0002t0001g0140a0002c0002t0001g0141others(129): Show | 132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.180+1332delA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120020595 | ||||||
| chr2:120020828
|
AAG | A | 105 | a0001c0001t0002g0015a0002c0002t0001g0139a0002c0002t0001g0140others(102): Show | 105 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(102): Show |
intron_variant | MODIFIER | c.180+1567_180+1568d others(4): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr2 | 120020828 | |||||
| chr2:120020829
|
AG | A | 134 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(131): Show | 134 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(131): Show |
intron_variant | MODIFIER | c.180+1566delG | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120020829 | ||||||
| chr2:120020829
|
AGAG | A | 23 | a0002c0002t0001g0155a0002c0002t0001g0162a0002c0002t0001g0200others(20): Show | 23 | HG01070.hp1 HG01081.hp2 HG01192.hp2 others(20): Show |
intron_variant | MODIFIER | c.180+1567_180+1569d others(5): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr2 | 120020829 | |||||
| chr2:120020830
|
G | A | 12 | a0001c0001t0002g0016a0001c0001t0002g0017a0001c0001t0002g0018others(9): Show | 12 | HG01255.hp2 HG02109.hp1 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.180+1566G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120020830 | ||||||
| chr2:120020832
|
G | A | 108 | a0002c0002t0001g0139a0002c0002t0001g0140a0002c0002t0001g0141others(105): Show | 108 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(105): Show |
intron_variant | MODIFIER | c.180+1568G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120020832 | ||||||
| chr2:120020838
|
T | C | 107 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(104): Show | 107 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(104): Show |
intron_variant | MODIFIER | c.180+1574T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120020838 | ||||||
| chr2:120020839
|
A | C | 1 | a0001c0001t0002g0101 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.180+1575A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120020839 | ||||||
| chr2:120021256
|
C | G | 1 | a0002c0002t0001g0199 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.180+1992C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120021256 | ||||||
| chr2:120021268
|
A | G | 145 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(142): Show | 145 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(142): Show |
intron_variant | MODIFIER | c.180+2004A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120021268 | ||||||
| chr2:120021296
|
C | T | 2 | a0001c0001t0006g0126a0001c0001t0006g0127 | 2 | HG02630.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.180+2032C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120021296 | ||||||
| chr2:120021337
|
CA | C | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.180+2082delA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr2 | 120021337 | |||||
| chr2:120021382
|
C | T | 1 | a0001c0001t0002g0100 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.180+2118C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120021382 | ||||||
| chr2:120021420
|
G | A | 2 | a0001c0001t0004g0130a0001c0001t0004g0131 | 2 | HG01243.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.180+2156G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120021420 | ||||||
| chr2:120021709
|
C | T | 1 | a0002c0002t0001g0146 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.180+2445C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120021709 | ||||||
| chr2:120021710
|
G | A | 1 | a0002c0002t0001g0200 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.180+2446G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120021710 | ||||||
| chr2:120021942
|
G | A | 2 | a0002c0002t0001g0210a0002c0002t0001g0211 | 2 | HG02486.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.180+2678G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120021942 | ||||||
| chr2:120021960
|
C | T | 2 | a0001c0001t0002g0098a0001c0001t0002g0099 | 2 | HG01167.hp2 HG01169.hp1 |
intron_variant | MODIFIER | c.180+2696C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120021960 | ||||||
| chr2:120022316
|
A | G | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.180+3052A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120022316 | ||||||
| chr2:120022335
|
C | A | 1 | a0002c0002t0001g0156 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.180+3071C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120022335 | ||||||
| chr2:120022386
|
G | A | 275 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(272): Show | 275 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(272): Show |
intron_variant | MODIFIER | c.180+3122G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120022386 | ||||||
| chr2:120022793
|
C | A | 11 | a0001c0001t0006g0120a0001c0001t0006g0121a0001c0001t0006g0122others(8): Show | 11 | HG00735.hp1 HG02615.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.180+3529C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120022793 | ||||||
| chr2:120022818
|
A | G | 1 | a0001c0001t0002g0097 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.180+3554A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120022818 | ||||||
| chr2:120022927
|
G | A | 144 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(141): Show | 144 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(141): Show |
intron_variant | MODIFIER | c.180+3663G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120022927 | ||||||
| chr2:120022939
|
G | A | 1 | a0001c0001t0002g0020 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.180+3675G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120022939 | ||||||
| chr2:120022954
|
T | C | 1 | a0001c0001t0017g0007 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.180+3690T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120022954 | ||||||
| chr2:120023240
|
T | A | 1 | a0002c0002t0001g0212 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.180+3976T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120023240 | ||||||
| chr2:120023540
|
G | C | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.180+4276G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120023540 | ||||||
| chr2:120023565
|
A | T | 1 | a0002c0002t0001g0139 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.180+4301A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120023565 | ||||||
| chr2:120023585
|
G | C | 1 | a0001c0001t0004g0130 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.180+4321G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120023585 | ||||||
| chr2:120023805
|
T | C | 1 | a0001c0001t0002g0132 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.180+4541T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120023805 | ||||||
| chr2:120024073
|
T | G | 2 | a0001c0001t0004g0113a0001c0001t0004g0114 | 2 | HG02572.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.180+4809T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120024073 | ||||||
| chr2:120024098
|
A | G | 106 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(103): Show | 106 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(103): Show |
intron_variant | MODIFIER | c.180+4834A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120024098 | ||||||
| chr2:120024106
|
A | G | 2 | a0001c0001t0004g0113a0001c0001t0004g0114 | 2 | HG02572.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.180+4842A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120024106 | ||||||
| chr2:120024107
|
A | G | 1 | a0001c0001t0015g0274 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.180+4843A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120024107 | ||||||
| chr2:120024304
|
G | T | 1 | a0001c0001t0002g0009 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.180+5040G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120024304 | ||||||
| chr2:120024449
|
T | G | 1 | a0002c0002t0001g0213 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.180+5185T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120024449 | ||||||
| chr2:120024526
|
A | G | 150 | a0001c0001t0002g0019a0001c0001t0002g0095a0001c0001t0003g0096others(147): Show | 150 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(147): Show |
intron_variant | MODIFIER | c.180+5262A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120024526 | ||||||
| chr2:120024617
|
C | T | 1 | a0001c0001t0002g0132 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.180+5353C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120024617 | ||||||
| chr2:120024708
|
T | C | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.180+5444T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120024708 | ||||||
| chr2:120024738
|
C | T | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.180+5474C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120024738 | ||||||
| chr2:120024749
|
A | G | 275 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(272): Show | 275 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(272): Show |
intron_variant | MODIFIER | c.180+5485A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120024749 | ||||||
| chr2:120024803
|
C | T | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.180+5539C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120024803 | ||||||
| chr2:120024854
|
C | T | 1 | a0002c0002t0001g0220 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.180+5590C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120024854 | ||||||
| chr2:120025091
|
C | A | 1 | a0001c0001t0005g0002 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.180+5827C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120025091 | ||||||
| chr2:120025289
|
T | G | 2 | a0001c0001t0002g0021a0001c0001t0002g0101 | 2 | HG01516.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.180+6025T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120025289 | ||||||
| chr2:120025292
|
A | G | 7 | a0002c0002t0001g0136a0002c0002t0001g0155a0002c0002t0001g0206others(4): Show | 7 | HG01884.hp2 HG02615.hp1 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.180+6028A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120025292 | ||||||
| chr2:120025359
|
A | G | 1 | a0001c0001t0002g0094 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.180+6095A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120025359 | ||||||
| chr2:120025414
|
C | T | 1 | a0001c0001t0002g0132 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.180+6150C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120025414 | ||||||
| chr2:120025646
|
A | G | 2 | a0001c0001t0002g0092a0001c0001t0002g0093 | 2 | NA18959.hp2 NA18983.hp2 |
intron_variant | MODIFIER | c.180+6382A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120025646 | ||||||
| chr2:120025707
|
A | G | 2 | a0001c0001t0006g0126a0001c0001t0006g0127 | 2 | HG02630.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.180+6443A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120025707 | ||||||
| chr2:120025717
|
T | C | 1 | a0002c0002t0001g0167 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.180+6453T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120025717 | ||||||
| chr2:120025720
|
A | T | 1 | a0002c0002t0001g0167 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.180+6456A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120025720 | ||||||
| chr2:120026351
|
CTGTTTTT others(5): Show |
C | 1 | a0001c0001t0002g0278 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.180+7093_180+7104d others(14): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr2 | 120026351 | |||||
| chr2:120026357
|
TTTTG | T | 106 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(103): Show | 106 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(103): Show |
intron_variant | MODIFIER | c.180+7117_180+7120d others(6): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr2 | 120026357 | |||||
| chr2:120026425
|
A | G | 1 | a0001c0001t0002g0132 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.180+7161A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120026425 | ||||||
| chr2:120026445
|
T | A | 2 | a0001c0001t0002g0026a0001c0001t0002g0027 | 2 | HG00738.hp2 HG01358.hp1 |
intron_variant | MODIFIER | c.180+7181T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120026445 | ||||||
| chr2:120026448
|
G | A | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.180+7184G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120026448 | ||||||
| chr2:120026557
|
C | T | 15 | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0002g0014others(12): Show | 15 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(12): Show |
intron_variant | MODIFIER | c.180+7293C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120026557 | ||||||
| chr2:120026574
|
T | G | 1 | a0002c0002t0019g0203 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.180+7310T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120026574 | ||||||
| chr2:120026581
|
C | T | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.180+7317C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120026581 | ||||||
| chr2:120026941
|
G | A | 106 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(103): Show | 106 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(103): Show |
intron_variant | MODIFIER | c.180+7677G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120026941 | ||||||
| chr2:120027101
|
C | T | 25 | a0001c0001t0002g0067a0001c0001t0002g0080a0001c0001t0002g0092others(22): Show | 25 | HG01496.hp1 HG02132.hp2 NA18947.hp1 others(22): Show |
intron_variant | MODIFIER | c.180+7837C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120027101 | ||||||
| chr2:120027227
|
A | G | 1 | a0002c0002t0001g0163 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.180+7963A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120027227 | ||||||
| chr2:120027373
|
C | G | 2 | a0001c0001t0002g0065a0001c0001t0002g0066 | 2 | NA18993.hp2 NA19088.hp1 |
intron_variant | MODIFIER | c.180+8109C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120027373 | ||||||
| chr2:120027387
|
G | A | 148 | a0001c0001t0002g0132a0001c0001t0004g0107a0001c0001t0004g0108others(145): Show | 148 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(145): Show |
intron_variant | MODIFIER | c.180+8123G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120027387 | ||||||
| chr2:120027449
|
T | C | 274 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(271): Show | 274 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(271): Show |
intron_variant | MODIFIER | c.180+8185T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120027449 | ||||||
| chr2:120027873
|
T | A | 9 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(6): Show | 9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.180+8609T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120027873 | ||||||
| chr2:120027900
|
CTT | C | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.180+8637_180+8638d others(4): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120027900 | ||||||
| chr2:120027966
|
G | A | 4 | a0002c0002t0001g0136a0002c0002t0001g0206a0002c0002t0001g0217others(1): Show | 4 | HG01884.hp2 HG02615.hp1 HG02818.hp1 others(1): Show |
intron_variant | MODIFIER | c.180+8702G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120027966 | ||||||
| chr2:120028007
|
C | T | 1 | a0002c0002t0001g0209 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.180+8743C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120028007 | ||||||
| chr2:120028008
|
G | A | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.180+8744G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120028008 | ||||||
| chr2:120028020
|
A | G | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.180+8756A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120028020 | ||||||
| chr2:120028093
|
C | T | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.180+8829C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120028093 | ||||||
| chr2:120028107
|
A | G | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.180+8843A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120028107 | ||||||
| chr2:120028138
|
A | G | 1 | a0002c0002t0001g0195 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.180+8874A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120028138 | ||||||
| chr2:120028143
|
C | T | 1 | a0001c0001t0005g0154 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.180+8879C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120028143 | ||||||
| chr2:120028171
|
A | AT | 9 | a0001c0001t0002g0132a0002c0002t0001g0136a0002c0002t0001g0155others(6): Show | 9 | HG01884.hp2 HG02257.hp2 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.180+8918dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr2 | 120028171 | |||||
| chr2:120028183
|
A | T | 1 | a0001c0001t0006g0129 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.180+8919A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120028183 | ||||||
| chr2:120028614
|
C | T | 107 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(104): Show | 107 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(104): Show |
intron_variant | MODIFIER | c.180+9350C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120028614 | ||||||
| chr2:120029054
|
G | A | 1 | a0002c0002t0001g0167 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.180+9790G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120029054 | ||||||
| chr2:120029256
|
C | T | 11 | a0001c0001t0006g0120a0001c0001t0006g0121a0001c0001t0006g0122others(8): Show | 11 | HG00735.hp1 HG02615.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.180+9992C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120029256 | ||||||
| chr2:120029279
|
C | G | 10 | a0001c0001t0006g0120a0001c0001t0006g0121a0001c0001t0006g0122others(7): Show | 10 | HG00735.hp1 HG02630.hp2 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.180+10015C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120029279 | ||||||
| chr2:120029456
|
A | G | 9 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(6): Show | 9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.180+10192A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120029456 | ||||||
| chr2:120029458
|
A | C | 1 | a0001c0001t0004g0131 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.180+10194A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120029458 | ||||||
| chr2:120029534
|
T | A | 11 | a0001c0001t0006g0120a0001c0001t0006g0121a0001c0001t0006g0122others(8): Show | 11 | HG00735.hp1 HG02615.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.180+10270T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120029534 | ||||||
| chr2:120029658
|
G | C | 13 | a0001c0001t0002g0028a0001c0001t0002g0029a0001c0001t0002g0030others(10): Show | 13 | HG00423.hp2 HG00609.hp1 HG02523.hp1 others(10): Show |
intron_variant | MODIFIER | c.180+10394G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120029658 | ||||||
| chr2:120029797
|
C | T | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.180+10533C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120029797 | ||||||
| chr2:120030031
|
G | T | 1 | a0001c0001t0002g0019 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.180+10767G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120030031 | ||||||
| chr2:120030191
|
G | A | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.180+10927G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120030191 | ||||||
| chr2:120030631
|
A | G | 1 | a0001c0001t0002g0064 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.180+11367A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120030631 | ||||||
| chr2:120030647
|
G | A | 1 | a0001c0001t0002g0020 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.181-11359G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120030647 | ||||||
| chr2:120030666
|
G | C | 1 | a0002c0002t0001g0225 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.181-11340G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120030666 | ||||||
| chr2:120030714
|
C | T | 1 | a0002c0002t0001g0271 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.181-11292C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120030714 | ||||||
| chr2:120030848
|
C | T | 1 | a0001c0001t0002g0132 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.181-11158C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120030848 | ||||||
| chr2:120030906
|
C | T | 1 | a0002c0002t0001g0194 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.181-11100C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120030906 | ||||||
| chr2:120031321
|
G | A | 1 | a0001c0001t0002g0037 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.181-10685G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120031321 | ||||||
| chr2:120031322
|
C | A | 1 | a0001c0001t0002g0037 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.181-10684C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120031322 | ||||||
| chr2:120031362
|
G | A | 1 | a0002c0002t0001g0163 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.181-10644G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120031362 | ||||||
| chr2:120031668
|
T | A | 20 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(17): Show | 20 | HG00735.hp1 HG01243.hp2 HG02109.hp2 others(17): Show |
intron_variant | MODIFIER | c.181-10338T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120031668 | ||||||
| chr2:120031813
|
T | C | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.181-10193T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120031813 | ||||||
| chr2:120031830
|
C | T | 1 | a0002c0002t0001g0193 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.181-10176C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120031830 | ||||||
| chr2:120031982
|
T | A | 1 | a0002c0002t0001g0214 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.181-10024T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120031982 | ||||||
| chr2:120032039
|
T | C | 1 | a0002c0002t0001g0136 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.181-9967T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120032039 | ||||||
| chr2:120032107
|
G | A | 2 | a0001c0001t0002g0098a0001c0001t0002g0099 | 2 | HG01167.hp2 HG01169.hp1 |
intron_variant | MODIFIER | c.181-9899G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120032107 | ||||||
| chr2:120032175
|
G | A | 5 | a0001c0001t0002g0038a0001c0001t0002g0039a0001c0001t0002g0040others(2): Show | 5 | HG01081.hp1 HG01928.hp1 HG01975.hp1 others(2): Show |
intron_variant | MODIFIER | c.181-9831G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120032175 | ||||||
| chr2:120032311
|
G | A | 1 | a0001c0001t0002g0043 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.181-9695G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120032311 | ||||||
| chr2:120032374
|
G | A | 3 | a0001c0001t0002g0132a0001c0001t0009g0137a0001c0001t0009g0138 | 3 | HG02109.hp1 HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.181-9632G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120032374 | ||||||
| chr2:120032430
|
A | G | 145 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(142): Show | 145 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(142): Show |
intron_variant | MODIFIER | c.181-9576A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120032430 | ||||||
| chr2:120032535
|
AT | A | 275 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(272): Show | 275 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(272): Show |
intron_variant | MODIFIER | c.181-9468delT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr2 | 120032535 | |||||
| chr2:120032736
|
G | T | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.181-9270G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120032736 | ||||||
| chr2:120032834
|
G | A | 1 | a0002c0002t0001g0267 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.181-9172G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120032834 | ||||||
| chr2:120032841
|
G | A | 275 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(272): Show | 275 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(272): Show |
intron_variant | MODIFIER | c.181-9165G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120032841 | ||||||
| chr2:120032993
|
C | T | 164 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0004g0113others(161): Show | 164 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(161): Show |
intron_variant | MODIFIER | c.181-9013C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120032993 | ||||||
| chr2:120033142
|
C | A | 1 | a0001c0001t0002g0067 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-8864C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120033142 | ||||||
| chr2:120033308
|
G | C | 1 | a0001c0001t0002g0067 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-8698G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120033308 | ||||||
| chr2:120033309
|
C | G | 1 | a0001c0001t0002g0067 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-8697C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120033309 | ||||||
| chr2:120033329
|
T | A | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.181-8677T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120033329 | ||||||
| chr2:120033537
|
A | G | 147 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(144): Show | 147 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(144): Show |
intron_variant | MODIFIER | c.181-8469A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120033537 | ||||||
| chr2:120033708
|
C | CA | 20 | a0001c0001t0002g0001a0001c0001t0002g0016a0001c0001t0002g0026others(17): Show | 20 | HG00738.hp2 HG01081.hp1 HG01167.hp2 others(17): Show |
intron_variant | MODIFIER | c.181-8277dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr2 | 120033708 | |||||
| chr2:120033708
|
CA | C | 19 | a0001c0001t0002g0013a0001c0001t0002g0063a0001c0001t0002g0132others(16): Show | 19 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(16): Show |
intron_variant | MODIFIER | c.181-8277delA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr2 | 120033708 | |||||
| chr2:120033708
|
CAA | C | 125 | a0002c0002t0001g0139a0002c0002t0001g0140a0002c0002t0001g0141others(122): Show | 125 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(122): Show |
intron_variant | MODIFIER | c.181-8278_181-8277d others(4): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr2 | 120033708 | |||||
| chr2:120033729
|
A | G | 1 | a0002c0002t0001g0169 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.181-8277A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120033729 | ||||||
| chr2:120033841
|
C | T | 1 | a0001c0001t0002g0132 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.181-8165C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120033841 | ||||||
| chr2:120033897
|
C | T | 1 | a0001c0001t0005g0153 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.181-8109C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120033897 | ||||||
| chr2:120034131
|
A | G | 1 | a0001c0001t0002g0095 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.181-7875A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120034131 | ||||||
| chr2:120034469
|
G | A | 1 | a0001c0001t0002g0067 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-7537G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120034469 | ||||||
| chr2:120034470
|
A | G | 1 | a0001c0001t0002g0067 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-7536A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120034470 | ||||||
| chr2:120034479
|
G | A | 1 | a0002c0002t0001g0163 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.181-7527G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120034479 | ||||||
| chr2:120034611
|
C | A | 1 | a0001c0001t0002g0067 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-7395C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120034611 | ||||||
| chr2:120034612
|
A | C | 1 | a0001c0001t0002g0067 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-7394A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120034612 | ||||||
| chr2:120034613
|
G | C | 1 | a0001c0001t0002g0067 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-7393G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120034613 | ||||||
| chr2:120034614
|
C | G | 1 | a0001c0001t0002g0067 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-7392C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120034614 | ||||||
| chr2:120034724
|
G | C | 1 | a0001c0001t0002g0067 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-7282G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120034724 | ||||||
| chr2:120034725
|
C | T | 1 | a0001c0001t0002g0067 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-7281C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120034725 | ||||||
| chr2:120034749
|
C | A | 1 | a0001c0001t0002g0067 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-7257C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120034749 | ||||||
| chr2:120034750
|
A | G | 1 | a0001c0001t0002g0067 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-7256A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120034750 | ||||||
| chr2:120034751
|
G | C | 1 | a0001c0001t0002g0067 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-7255G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120034751 | ||||||
| chr2:120034772
|
A | T | 1 | a0001c0001t0002g0067 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-7234A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120034772 | ||||||
| chr2:120034774
|
A | G | 1 | a0001c0001t0002g0132 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.181-7232A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120034774 | ||||||
| chr2:120034778
|
T | G | 1 | a0001c0001t0002g0067 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-7228T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120034778 | ||||||
| chr2:120034897
|
TTTG | T | 11 | a0001c0001t0006g0120a0001c0001t0006g0121a0001c0001t0006g0122others(8): Show | 11 | HG00735.hp1 HG02615.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.181-7100_181-7098d others(5): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr2 | 120034897 | |||||
| chr2:120034910
|
C | T | 146 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(143): Show | 146 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(143): Show |
intron_variant | MODIFIER | c.181-7096C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120034910 | ||||||
| chr2:120035119
|
C | G | 1 | a0001c0001t0002g0067 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-6887C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120035119 | ||||||
| chr2:120035120
|
A | T | 1 | a0001c0001t0002g0067 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-6886A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120035120 | ||||||
| chr2:120035121
|
G | C | 1 | a0001c0001t0002g0067 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-6885G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120035121 | ||||||
| chr2:120035122
|
T | A | 1 | a0001c0001t0002g0067 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-6884T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120035122 | ||||||
| chr2:120035259
|
A | T | 1 | a0002c0002t0001g0192 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.181-6747A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120035259 | ||||||
| chr2:120035267
|
T | A | 110 | a0002c0002t0001g0139a0002c0002t0001g0140a0002c0002t0001g0141others(107): Show | 110 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(107): Show |
intron_variant | MODIFIER | c.181-6739T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120035267 | ||||||
| chr2:120035268
|
A | T | 1 | a0001c0001t0002g0132 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.181-6738A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120035268 | ||||||
| chr2:120035318
|
G | A | 18 | a0001c0001t0002g0010a0001c0001t0002g0020a0001c0001t0002g0037others(15): Show | 18 | HG00544.hp2 HG02135.hp2 HG02155.hp1 others(15): Show |
intron_variant | MODIFIER | c.181-6688G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120035318 | ||||||
| chr2:120035500
|
C | A | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.181-6506C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120035500 | ||||||
| chr2:120035550
|
G | T | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.181-6456G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120035550 | ||||||
| chr2:120035608
|
T | C | 2 | a0002c0002t0001g0170a0002c0002t0001g0194 | 2 | HG01496.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.181-6398T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120035608 | ||||||
| chr2:120035638
|
C | T | 1 | a0002c0002t0001g0140 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.181-6368C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120035638 | ||||||
| chr2:120035972
|
C | A | 1 | a0002c0002t0001g0163 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.181-6034C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120035972 | ||||||
| chr2:120036050
|
G | A | 1 | a0002c0002t0001g0262 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.181-5956G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120036050 | ||||||
| chr2:120036111
|
C | T | 1 | a0001c0001t0002g0067 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-5895C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120036111 | ||||||
| chr2:120036112
|
T | C | 1 | a0001c0001t0002g0067 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-5894T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120036112 | ||||||
| chr2:120036138
|
C | G | 1 | a0001c0001t0002g0067 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-5868C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120036138 | ||||||
| chr2:120036406
|
A | G | 1 | a0002c0002t0001g0260 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.181-5600A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120036406 | ||||||
| chr2:120036515
|
C | T | 1 | a0001c0001t0005g0006 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.181-5491C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120036515 | ||||||
| chr2:120036522
|
A | T | 1 | a0001c0001t0002g0067 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.181-5484A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120036522 | ||||||
| chr2:120036545
|
A | G | 1 | a0001c0001t0009g0138 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.181-5461A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120036545 | ||||||
| chr2:120036547
|
C | T | 1 | a0001c0001t0009g0138 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.181-5459C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120036547 | ||||||
| chr2:120036601
|
A | G | 1 | a0002c0002t0001g0218 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.181-5405A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120036601 | ||||||
| chr2:120036705
|
A | G | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.181-5301A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120036705 | ||||||
| chr2:120036779
|
T | A | 1 | a0001c0001t0003g0069 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.181-5227T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120036779 | ||||||
| chr2:120037092
|
AG | A | 10 | a0001c0001t0006g0120a0001c0001t0006g0121a0001c0001t0006g0122others(7): Show | 10 | HG00735.hp1 HG02630.hp2 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.181-4912delG | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr2 | 120037092 | |||||
| chr2:120037094
|
G | A | 265 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(262): Show | 265 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(262): Show |
intron_variant | MODIFIER | c.181-4912G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120037094 | ||||||
| chr2:120037191
|
C | A | 1 | a0002c0002t0001g0219 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.181-4815C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120037191 | ||||||
| chr2:120037454
|
A | C | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.181-4552A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120037454 | ||||||
| chr2:120037663
|
A | G | 2 | a0001c0001t0002g0061a0001c0001t0002g0062 | 2 | HG01192.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.181-4343A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120037663 | ||||||
| chr2:120037829
|
C | A | 1 | a0002c0002t0001g0229 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.181-4177C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120037829 | ||||||
| chr2:120038217
|
T | C | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.181-3789T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120038217 | ||||||
| chr2:120038225
|
T | G | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.181-3781T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120038225 | ||||||
| chr2:120038232
|
A | G | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.181-3774A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120038232 | ||||||
| chr2:120038314
|
G | C | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.181-3692G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120038314 | ||||||
| chr2:120038491
|
C | T | 1 | a0001c0001t0002g0043 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.181-3515C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120038491 | ||||||
| chr2:120038560
|
C | G | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.181-3446C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120038560 | ||||||
| chr2:120038596
|
A | G | 145 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(142): Show | 145 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(142): Show |
intron_variant | MODIFIER | c.181-3410A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120038596 | ||||||
| chr2:120038862
|
A | G | 1 | a0001c0001t0002g0095 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.181-3144A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120038862 | ||||||
| chr2:120038882
|
G | A | 145 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(142): Show | 145 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(142): Show |
intron_variant | MODIFIER | c.181-3124G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120038882 | ||||||
| chr2:120039212
|
A | G | 145 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(142): Show | 145 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(142): Show |
intron_variant | MODIFIER | c.181-2794A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120039212 | ||||||
| chr2:120039223
|
G | A | 1 | a0001c0001t0004g0131 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.181-2783G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120039223 | ||||||
| chr2:120039236
|
G | C | 2 | a0002c0002t0001g0230a0002c0002t0001g0231 | 2 | NA19080.hp2 NA19082.hp2 |
intron_variant | MODIFIER | c.181-2770G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120039236 | ||||||
| chr2:120039260
|
A | G | 1 | a0002c0002t0001g0144 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.181-2746A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120039260 | ||||||
| chr2:120039266
|
T | C | 1 | a0002c0002t0001g0212 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.181-2740T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120039266 | ||||||
| chr2:120039293
|
G | T | 1 | a0001c0001t0006g0127 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.181-2713G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120039293 | ||||||
| chr2:120039297
|
A | G | 145 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(142): Show | 145 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(142): Show |
intron_variant | MODIFIER | c.181-2709A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120039297 | ||||||
| chr2:120039489
|
T | C | 1 | a0001c0001t0006g0120 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.181-2517T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120039489 | ||||||
| chr2:120039578
|
C | T | 1 | a0001c0001t0002g0042 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.181-2428C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120039578 | ||||||
| chr2:120039615
|
C | T | 1 | a0001c0001t0015g0274 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.181-2391C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120039615 | ||||||
| chr2:120039707
|
C | G | 1 | a0002c0002t0001g0259 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.181-2299C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120039707 | ||||||
| chr2:120039753
|
A | G | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.181-2253A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120039753 | ||||||
| chr2:120039781
|
T | C | 147 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(144): Show | 147 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(144): Show |
intron_variant | MODIFIER | c.181-2225T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120039781 | ||||||
| chr2:120039845
|
A | G | 8 | a0001c0001t0002g0036a0001c0001t0004g0113a0001c0001t0004g0114others(5): Show | 8 | HG02109.hp2 HG02572.hp1 HG02809.hp1 others(5): Show |
intron_variant | MODIFIER | c.181-2161A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120039845 | ||||||
| chr2:120039859
|
T | C | 11 | a0001c0001t0006g0120a0001c0001t0006g0121a0001c0001t0006g0122others(8): Show | 11 | HG00735.hp1 HG02615.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.181-2147T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120039859 | ||||||
| chr2:120040004
|
C | T | 1 | a0002c0002t0001g0219 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.181-2002C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120040004 | ||||||
| chr2:120040060
|
G | A | 2 | a0001c0001t0002g0061a0001c0001t0002g0062 | 2 | HG01192.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.181-1946G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120040060 | ||||||
| chr2:120040086
|
TAC | T | 44 | a0001c0001t0002g0051a0001c0001t0002g0052a0001c0001t0002g0065others(41): Show | 44 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(41): Show |
intron_variant | MODIFIER | c.181-1919_181-1918d others(4): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120040086 | ||||||
| chr2:120040088
|
C | T | 231 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(228): Show | 231 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(228): Show |
intron_variant | MODIFIER | c.181-1918C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120040088 | ||||||
| chr2:120040268
|
C | T | 1 | a0001c0001t0006g0128 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.181-1738C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120040268 | ||||||
| chr2:120040393
|
G | A | 2 | a0002c0002t0001g0171a0002c0002t0001g0271 | 2 | HG02809.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.181-1613G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120040393 | ||||||
| chr2:120040399
|
A | T | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.181-1607A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120040399 | ||||||
| chr2:120040410
|
G | T | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.181-1596G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120040410 | ||||||
| chr2:120040849
|
A | G | 53 | a0002c0002t0001g0139a0002c0002t0001g0147a0002c0002t0001g0149others(50): Show | 53 | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(50): Show |
intron_variant | MODIFIER | c.181-1157A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120040849 | ||||||
| chr2:120040877
|
A | G | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.181-1129A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120040877 | ||||||
| chr2:120041295
|
T | G | 1 | a0002c0002t0023g0148 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.181-711T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120041295 | ||||||
| chr2:120041296
|
G | C | 112 | a0002c0002t0001g0139a0002c0002t0001g0140a0002c0002t0001g0141others(109): Show | 112 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(109): Show |
intron_variant | MODIFIER | c.181-710G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120041296 | ||||||
| chr2:120041360
|
C | T | 1 | a0001c0001t0015g0274 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.181-646C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120041360 | ||||||
| chr2:120041487
|
G | A | 1 | a0001c0001t0002g0028 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.181-519G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120041487 | ||||||
| chr2:120041519
|
G | C | 1 | a0002c0002t0018g0207 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.181-487G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120041519 | ||||||
| chr2:120041543
|
G | T | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.181-463G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120041543 | ||||||
| chr2:120041803
|
C | T | 144 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(141): Show | 144 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(141): Show |
intron_variant | MODIFIER | c.181-203C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120041803 | ||||||
| chr2:120041861
|
A | T | 1 | a0002c0002t0001g0144 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.181-145A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120041861 | ||||||
| chr2:120041975
|
T | G | 1 | a0001c0001t0017g0007 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.181-31T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 2/24 | chr2 | 120041975 | ||||||
| chr2:120042233
|
C | T | 1 | a0001c0001t0006g0120 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.285+123C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120042233 | ||||||
| chr2:120042995
|
A | ATG | 4 | a0001c0001t0004g0118a0001c0001t0006g0120a0001c0001t0016g0119others(1): Show | 4 | HG00735.hp1 HG02109.hp2 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.285+937_285+938dup others(2): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120042995 | |||||
| chr2:120042995
|
A | ATGTG | 5 | a0001c0001t0004g0116a0001c0001t0004g0117a0001c0001t0004g0131others(2): Show | 5 | HG02818.hp2 HG02886.hp1 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.285+935_285+938dup others(4): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120042995 | |||||
| chr2:120042995
|
A | ATGTGTG | 5 | a0001c0001t0004g0113a0001c0001t0004g0115a0001c0001t0004g0130others(2): Show | 5 | HG01243.hp2 HG02809.hp1 HG02896.hp1 others(2): Show |
intron_variant | MODIFIER | c.285+933_285+938dup others(6): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120042995 | |||||
| chr2:120042995
|
A | ATGTGTGT others(3): Show |
1 | a0001c0001t0004g0114 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.285+929_285+938dup others(10): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120042995 | |||||
| chr2:120042995
|
ATG | A | 26 | a0001c0001t0003g0071a0001c0001t0005g0002a0001c0001t0005g0003others(23): Show | 26 | HG00735.hp2 HG01070.hp2 HG01071.hp2 others(23): Show |
intron_variant | MODIFIER | c.285+937_285+938del others(2): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120042995 | |||||
| chr2:120042995
|
ATGTG | A | 33 | a0001c0001t0002g0008a0001c0001t0002g0009a0001c0001t0002g0012others(30): Show | 33 | HG00639.hp2 HG00741.hp1 HG01081.hp2 others(30): Show |
intron_variant | MODIFIER | c.285+935_285+938del others(4): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120042995 | |||||
| chr2:120042995
|
ATGTGTG | A | 50 | a0001c0001t0002g0014a0001c0001t0002g0015a0001c0001t0002g0028others(47): Show | 50 | HG00408.hp1 HG00423.hp2 HG00609.hp1 others(47): Show |
intron_variant | MODIFIER | c.285+933_285+938del others(6): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120042995 | |||||
| chr2:120042995
|
ATGTGTGT others(1): Show |
A | 80 | a0001c0001t0002g0001a0001c0001t0002g0010a0001c0001t0002g0016others(77): Show | 80 | HG00544.hp2 HG00738.hp2 HG01069.hp2 others(77): Show |
intron_variant | MODIFIER | c.285+931_285+938del others(8): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120042995 | |||||
| chr2:120042995
|
ATGTGTGT others(3): Show |
A | 47 | a0001c0001t0002g0046a0001c0001t0002g0060a0001c0001t0002g0091others(44): Show | 47 | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(44): Show |
intron_variant | MODIFIER | c.285+929_285+938del others(10): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120042995 | |||||
| chr2:120042995
|
ATGTGTGT others(5): Show |
A | 4 | a0001c0001t0002g0052a0001c0001t0002g0098a0001c0001t0002g0099others(1): Show | 4 | HG01167.hp2 HG01169.hp1 HG02622.hp1 others(1): Show |
intron_variant | MODIFIER | c.285+927_285+938del others(12): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120042995 | |||||
| chr2:120042995
|
ATGTGTGT others(7): Show |
A | 3 | a0001c0001t0009g0137a0002c0002t0021g0161a0004c0007t0001g0270 | 3 | HG01069.hp1 HG02109.hp1 HG02257.hp2 |
intron_variant | MODIFIER | c.285+925_285+938del others(14): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120042995 | |||||
| chr2:120042997
|
G | T | 6 | a0001c0001t0004g0107a0001c0001t0004g0108a0002c0002t0001g0193others(3): Show | 6 | HG00738.hp1 HG00741.hp2 HG02129.hp2 others(3): Show |
intron_variant | MODIFIER | c.285+887G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120042997 | ||||||
| chr2:120042999
|
G | T | 24 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(21): Show | 24 | HG00735.hp2 HG01070.hp2 HG01071.hp2 others(21): Show |
intron_variant | MODIFIER | c.285+889G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120042999 | ||||||
| chr2:120043001
|
G | T | 17 | a0002c0002t0001g0140a0002c0002t0001g0143a0002c0002t0001g0145others(14): Show | 17 | HG00741.hp1 HG01081.hp2 HG01109.hp2 others(14): Show |
intron_variant | MODIFIER | c.285+891G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120043001 | ||||||
| chr2:120043003
|
G | T | 28 | a0002c0002t0001g0164a0002c0002t0001g0165a0002c0002t0001g0166others(25): Show | 28 | HG00408.hp1 HG00609.hp2 HG01169.hp2 others(25): Show |
intron_variant | MODIFIER | c.285+893G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120043003 | ||||||
| chr2:120043005
|
G | T | 25 | a0002c0002t0001g0144a0002c0002t0001g0163a0002c0002t0001g0167others(22): Show | 25 | HG01243.hp1 HG01884.hp1 HG01891.hp2 others(22): Show |
intron_variant | MODIFIER | c.285+895G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120043005 | ||||||
| chr2:120043007
|
G | T | 42 | a0002c0002t0001g0139a0002c0002t0001g0146a0002c0002t0001g0147others(39): Show | 42 | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(39): Show |
intron_variant | MODIFIER | c.285+897G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120043007 | ||||||
| chr2:120043011
|
G | T | 2 | a0002c0002t0021g0161a0004c0007t0001g0270 | 2 | HG01069.hp1 HG02257.hp2 |
intron_variant | MODIFIER | c.285+901G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120043011 | ||||||
| chr2:120043252
|
G | A | 1 | a0002c0002t0001g0244 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.285+1142G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120043252 | ||||||
| chr2:120043310
|
C | G | 145 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(142): Show | 145 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(142): Show |
intron_variant | MODIFIER | c.285+1200C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120043310 | ||||||
| chr2:120043416
|
G | A | 2 | a0002c0002t0001g0217a0002c0002t0001g0218 | 2 | HG02818.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.285+1306G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120043416 | ||||||
| chr2:120043461
|
C | T | 13 | a0001c0001t0002g0028a0001c0001t0002g0029a0001c0001t0002g0030others(10): Show | 13 | HG00423.hp2 HG00609.hp1 HG02523.hp1 others(10): Show |
intron_variant | MODIFIER | c.285+1351C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120043461 | ||||||
| chr2:120043574
|
TA | T | 132 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(129): Show | 132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.285+1478delA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120043574 | |||||
| chr2:120043603
|
C | T | 1 | a0002c0002t0001g0185 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.285+1493C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120043603 | ||||||
| chr2:120043625
|
A | C | 147 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(144): Show | 147 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(144): Show |
intron_variant | MODIFIER | c.285+1515A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120043625 | ||||||
| chr2:120043792
|
T | C | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.285+1682T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120043792 | ||||||
| chr2:120043827
|
C | T | 1 | a0002c0002t0010g0157 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.285+1717C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120043827 | ||||||
| chr2:120043873
|
G | A | 1 | a0002c0002t0001g0174 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.285+1763G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120043873 | ||||||
| chr2:120043881
|
T | G | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.285+1771T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120043881 | ||||||
| chr2:120043975
|
T | C | 1 | a0002c0002t0001g0146 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.285+1865T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120043975 | ||||||
| chr2:120044141
|
T | TA | 6 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(3): Show | 6 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(3): Show |
intron_variant | MODIFIER | c.285+2047dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120044141 | |||||
| chr2:120044213
|
C | G | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.285+2103C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120044213 | ||||||
| chr2:120044584
|
T | G | 147 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(144): Show | 147 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(144): Show |
intron_variant | MODIFIER | c.285+2474T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120044584 | ||||||
| chr2:120044617
|
A | T | 25 | a0001c0001t0002g0067a0001c0001t0002g0080a0001c0001t0002g0092others(22): Show | 25 | HG01496.hp1 HG02132.hp2 NA18947.hp1 others(22): Show |
intron_variant | MODIFIER | c.285+2507A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120044617 | ||||||
| chr2:120045078
|
C | T | 1 | a0002c0002t0001g0263 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.285+2968C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120045078 | ||||||
| chr2:120045138
|
G | A | 2 | a0002c0002t0001g0210a0002c0002t0001g0211 | 2 | HG02486.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.285+3028G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120045138 | ||||||
| chr2:120045142
|
A | C | 1 | a0002c0002t0001g0221 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.285+3032A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120045142 | ||||||
| chr2:120045144
|
T | A | 1 | a0002c0002t0001g0221 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.285+3034T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120045144 | ||||||
| chr2:120045145
|
G | A | 1 | a0002c0002t0001g0221 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.285+3035G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120045145 | ||||||
| chr2:120045148
|
C | G | 1 | a0002c0002t0001g0221 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.285+3038C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120045148 | ||||||
| chr2:120045149
|
C | A | 1 | a0002c0002t0001g0221 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.285+3039C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120045149 | ||||||
| chr2:120045154
|
T | A | 1 | a0002c0002t0001g0221 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.285+3044T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120045154 | ||||||
| chr2:120045189
|
G | A | 1 | a0001c0001t0004g0131 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.285+3079G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120045189 | ||||||
| chr2:120045244
|
G | A | 5 | a0002c0002t0001g0140a0002c0002t0001g0141a0002c0002t0001g0143others(2): Show | 5 | HG00735.hp2 HG01109.hp2 HG01175.hp2 others(2): Show |
intron_variant | MODIFIER | c.285+3134G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120045244 | ||||||
| chr2:120045311
|
T | C | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.285+3201T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120045311 | ||||||
| chr2:120045331
|
T | A | 1 | a0002c0002t0001g0221 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.285+3221T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120045331 | ||||||
| chr2:120045338
|
C | T | 1 | a0001c0001t0005g0005 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.285+3228C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120045338 | ||||||
| chr2:120045580
|
C | A | 4 | a0002c0002t0001g0202a0002c0002t0001g0214a0002c0002t0001g0215others(1): Show | 4 | HG02055.hp1 HG02280.hp2 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.285+3470C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120045580 | ||||||
| chr2:120045588
|
A | G | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.285+3478A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120045588 | ||||||
| chr2:120045636
|
A | G | 1 | a0002c0002t0001g0211 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.285+3526A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120045636 | ||||||
| chr2:120045731
|
G | A | 1 | a0002c0002t0001g0146 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.285+3621G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120045731 | ||||||
| chr2:120045804
|
A | G | 9 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(6): Show | 9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.285+3694A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120045804 | ||||||
| chr2:120045868
|
C | G | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.285+3758C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120045868 | ||||||
| chr2:120045969
|
T | A | 1 | a0002c0002t0001g0221 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.285+3859T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120045969 | ||||||
| chr2:120046065
|
G | GA | 146 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(143): Show | 146 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(143): Show |
intron_variant | MODIFIER | c.285+3955_285+3956i others(3): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120046065 | ||||||
| chr2:120046118
|
C | G | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.285+4008C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120046118 | ||||||
| chr2:120046137
|
A | T | 1 | a0002c0002t0001g0221 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.285+4027A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120046137 | ||||||
| chr2:120046273
|
A | G | 9 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(6): Show | 9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.285+4163A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120046273 | ||||||
| chr2:120046501
|
G | GT | 5 | a0001c0001t0002g0043a0001c0001t0002g0047a0001c0001t0002g0051others(2): Show | 5 | HG02135.hp2 HG03041.hp2 HG03239.hp1 others(2): Show |
intron_variant | MODIFIER | c.285+4393dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120046501 | |||||
| chr2:120046501
|
G | T | 5 | a0001c0001t0002g0059a0001c0001t0002g0060a0001c0001t0002g0109others(2): Show | 5 | HG01884.hp2 HG02451.hp2 HG02572.hp2 others(2): Show |
intron_variant | MODIFIER | c.285+4391G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120046501 | ||||||
| chr2:120046503
|
TG | T | 4 | a0001c0001t0002g0021a0001c0001t0002g0061a0001c0001t0002g0062others(1): Show | 4 | HG01192.hp1 HG01516.hp2 HG01517.hp2 others(1): Show |
intron_variant | MODIFIER | c.285+4394delG | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120046503 | ||||||
| chr2:120046504
|
G | T | 103 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(100): Show | 103 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(100): Show |
intron_variant | MODIFIER | c.285+4394G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120046504 | ||||||
| chr2:120046557
|
T | C | 109 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(106): Show | 109 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(106): Show |
intron_variant | MODIFIER | c.285+4447T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120046557 | ||||||
| chr2:120046837
|
A | G | 20 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(17): Show | 20 | HG00735.hp1 HG01243.hp2 HG02109.hp2 others(17): Show |
intron_variant | MODIFIER | c.285+4727A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120046837 | ||||||
| chr2:120047020
|
G | A | 132 | a0002c0002t0001g0139a0002c0002t0001g0140a0002c0002t0001g0141others(129): Show | 132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.285+4910G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120047020 | ||||||
| chr2:120047036
|
C | CA | 20 | a0002c0002t0001g0155a0002c0002t0001g0202a0002c0002t0001g0206others(17): Show | 20 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(17): Show |
intron_variant | MODIFIER | c.285+4927dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120047036 | |||||
| chr2:120047160
|
G | A | 132 | a0002c0002t0001g0139a0002c0002t0001g0140a0002c0002t0001g0141others(129): Show | 132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.285+5050G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120047160 | ||||||
| chr2:120047223
|
C | T | 1 | a0001c0001t0015g0274 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.285+5113C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120047223 | ||||||
| chr2:120047247
|
T | C | 20 | a0002c0002t0001g0155a0002c0002t0001g0202a0002c0002t0001g0206others(17): Show | 20 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(17): Show |
intron_variant | MODIFIER | c.285+5137T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120047247 | ||||||
| chr2:120047291
|
G | A | 17 | a0002c0002t0001g0155a0002c0002t0001g0202a0002c0002t0001g0206others(14): Show | 17 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(14): Show |
intron_variant | MODIFIER | c.285+5181G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120047291 | ||||||
| chr2:120047431
|
C | T | 148 | a0001c0001t0003g0085a0001c0001t0003g0086a0001c0001t0004g0107others(145): Show | 148 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(145): Show |
intron_variant | MODIFIER | c.285+5321C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120047431 | ||||||
| chr2:120047434
|
G | A | 1 | a0002c0002t0001g0221 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.285+5324G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120047434 | ||||||
| chr2:120047435
|
A | G | 1 | a0002c0002t0001g0221 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.285+5325A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120047435 | ||||||
| chr2:120047508
|
T | A | 1 | a0002c0002t0001g0221 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.285+5398T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120047508 | ||||||
| chr2:120047516
|
C | G | 4 | a0001c0001t0002g0022a0001c0001t0002g0023a0001c0001t0002g0024others(1): Show | 4 | HG01069.hp2 HG01071.hp1 HG01943.hp2 others(1): Show |
intron_variant | MODIFIER | c.285+5406C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120047516 | ||||||
| chr2:120047536
|
C | G | 146 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(143): Show | 146 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(143): Show |
intron_variant | MODIFIER | c.285+5426C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120047536 | ||||||
| chr2:120047561
|
G | A | 1 | a0002c0002t0001g0209 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.285+5451G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120047561 | ||||||
| chr2:120047771
|
C | T | 1 | a0001c0001t0002g0094 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.285+5661C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120047771 | ||||||
| chr2:120047961
|
G | A | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.285+5851G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120047961 | ||||||
| chr2:120047972
|
G | T | 146 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(143): Show | 146 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(143): Show |
intron_variant | MODIFIER | c.285+5862G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120047972 | ||||||
| chr2:120047974
|
C | T | 146 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(143): Show | 146 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(143): Show |
intron_variant | MODIFIER | c.285+5864C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120047974 | ||||||
| chr2:120047975
|
A | G | 146 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(143): Show | 146 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(143): Show |
intron_variant | MODIFIER | c.285+5865A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120047975 | ||||||
| chr2:120047995
|
G | T | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.285+5885G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120047995 | ||||||
| chr2:120047996
|
A | T | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.285+5886A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120047996 | ||||||
| chr2:120047997
|
T | C | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.285+5887T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120047997 | ||||||
| chr2:120048012
|
C | A | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.285+5902C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120048012 | ||||||
| chr2:120048089
|
T | C | 9 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(6): Show | 9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.285+5979T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120048089 | ||||||
| chr2:120048118
|
T | TTC | 275 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(272): Show | 275 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(272): Show |
intron_variant | MODIFIER | c.285+6010_285+6011d others(4): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120048118 | |||||
| chr2:120048195
|
C | T | 1 | a0002c0002t0001g0265 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.285+6085C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120048195 | ||||||
| chr2:120048279
|
C | T | 2 | a0001c0001t0002g0027a0002c0002t0010g0157 | 2 | HG00738.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.285+6169C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120048279 | ||||||
| chr2:120048397
|
A | G | 1 | a0001c0001t0002g0001 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.285+6287A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120048397 | ||||||
| chr2:120048699
|
T | G | 146 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(143): Show | 146 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(143): Show |
intron_variant | MODIFIER | c.285+6589T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120048699 | ||||||
| chr2:120048840
|
G | T | 144 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(141): Show | 144 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(141): Show |
intron_variant | MODIFIER | c.285+6730G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120048840 | ||||||
| chr2:120048869
|
T | C | 1 | a0002c0002t0001g0204 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.285+6759T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120048869 | ||||||
| chr2:120049064
|
G | A | 20 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(17): Show | 20 | HG00735.hp1 HG01243.hp2 HG02109.hp2 others(17): Show |
intron_variant | MODIFIER | c.285+6954G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120049064 | ||||||
| chr2:120049097
|
T | G | 1 | a0002c0002t0001g0221 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.285+6987T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120049097 | ||||||
| chr2:120049342
|
T | G | 147 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(144): Show | 147 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(144): Show |
intron_variant | MODIFIER | c.285+7232T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120049342 | ||||||
| chr2:120049386
|
T | C | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.285+7276T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120049386 | ||||||
| chr2:120049388
|
G | A | 1 | a0001c0001t0002g0088 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.285+7278G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120049388 | ||||||
| chr2:120049490
|
C | CT | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.285+7389dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120049490 | |||||
| chr2:120049618
|
A | G | 5 | a0001c0001t0002g0092a0001c0001t0002g0093a0001c0001t0007g0074others(2): Show | 5 | NA18959.hp2 NA18960.hp1 NA18983.hp2 others(2): Show |
intron_variant | MODIFIER | c.285+7508A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120049618 | ||||||
| chr2:120049731
|
G | A | 108 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(105): Show | 108 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(105): Show |
intron_variant | MODIFIER | c.285+7621G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120049731 | ||||||
| chr2:120049803
|
A | G | 275 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(272): Show | 275 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(272): Show |
intron_variant | MODIFIER | c.285+7693A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120049803 | ||||||
| chr2:120049809
|
T | C | 1 | a0002c0002t0001g0221 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.285+7699T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120049809 | ||||||
| chr2:120049811
|
C | T | 1 | a0002c0002t0001g0221 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.285+7701C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120049811 | ||||||
| chr2:120049814
|
T | C | 1 | a0002c0002t0001g0221 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.285+7704T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120049814 | ||||||
| chr2:120050176
|
C | T | 5 | a0002c0002t0001g0233a0002c0002t0001g0240a0002c0002t0001g0241others(2): Show | 5 | NA18947.hp2 NA18957.hp2 NA18995.hp2 others(2): Show |
intron_variant | MODIFIER | c.285+8066C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120050176 | ||||||
| chr2:120050202
|
T | C | 1 | a0001c0001t0002g0018 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.285+8092T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120050202 | ||||||
| chr2:120050394
|
T | G | 1 | a0001c0001t0002g0009 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.285+8284T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120050394 | ||||||
| chr2:120050484
|
C | G | 1 | a0001c0001t0002g0132 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.285+8374C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120050484 | ||||||
| chr2:120050569
|
T | A | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.285+8459T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120050569 | ||||||
| chr2:120050601
|
G | A | 3 | a0001c0001t0009g0137a0001c0001t0009g0138a0002c0002t0001g0189 | 3 | HG02109.hp1 HG02622.hp1 NA19010.hp1 |
intron_variant | MODIFIER | c.285+8491G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120050601 | ||||||
| chr2:120050634
|
G | A | 3 | a0002c0002t0001g0171a0002c0002t0001g0175a0002c0002t0001g0271 | 3 | HG02809.hp2 HG03041.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.285+8524G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120050634 | ||||||
| chr2:120050652
|
G | T | 144 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(141): Show | 144 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(141): Show |
intron_variant | MODIFIER | c.285+8542G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120050652 | ||||||
| chr2:120050658
|
T | C | 1 | a0002c0002t0001g0265 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.285+8548T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120050658 | ||||||
| chr2:120050709
|
G | A | 107 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(104): Show | 107 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(104): Show |
intron_variant | MODIFIER | c.285+8599G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120050709 | ||||||
| chr2:120050731
|
G | A | 1 | a0002c0002t0001g0195 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.285+8621G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120050731 | ||||||
| chr2:120050820
|
A | G | 144 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(141): Show | 144 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(141): Show |
intron_variant | MODIFIER | c.285+8710A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120050820 | ||||||
| chr2:120050882
|
G | T | 1 | a0002c0002t0001g0158 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.285+8772G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120050882 | ||||||
| chr2:120051138
|
G | T | 1 | a0002c0002t0001g0136 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.285+9028G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120051138 | ||||||
| chr2:120051252
|
G | A | 11 | a0001c0001t0006g0120a0001c0001t0006g0121a0001c0001t0006g0122others(8): Show | 11 | HG00735.hp1 HG02615.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.285+9142G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120051252 | ||||||
| chr2:120051294
|
G | A | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.285+9184G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120051294 | ||||||
| chr2:120051376
|
C | T | 1 | a0001c0001t0003g0084 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.285+9266C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120051376 | ||||||
| chr2:120051390
|
A | C | 2 | a0001c0001t0002g0050a0001c0001t0002g0063 | 2 | HG02155.hp1 HG03834.hp2 |
intron_variant | MODIFIER | c.285+9280A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120051390 | ||||||
| chr2:120051449
|
C | G | 1 | a0002c0002t0001g0213 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.285+9339C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120051449 | ||||||
| chr2:120051459
|
A | G | 275 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(272): Show | 275 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(272): Show |
intron_variant | MODIFIER | c.285+9349A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120051459 | ||||||
| chr2:120051541
|
A | G | 1 | a0002c0002t0001g0169 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.285+9431A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120051541 | ||||||
| chr2:120051633
|
C | T | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.285+9523C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120051633 | ||||||
| chr2:120051637
|
C | T | 1 | a0001c0001t0002g0059 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.285+9527C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120051637 | ||||||
| chr2:120051697
|
A | G | 9 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(6): Show | 9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.285+9587A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120051697 | ||||||
| chr2:120051762
|
T | G | 2 | a0002c0002t0001g0210a0002c0002t0001g0211 | 2 | HG02486.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.285+9652T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120051762 | ||||||
| chr2:120051834
|
GT | G | 144 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(141): Show | 144 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(141): Show |
intron_variant | MODIFIER | c.285+9734delT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120051834 | |||||
| chr2:120051857
|
T | G | 2 | a0002c0002t0001g0164a0002c0002t0001g0273 | 2 | HG02129.hp1 HG02135.hp1 |
intron_variant | MODIFIER | c.285+9747T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120051857 | ||||||
| chr2:120051992
|
A | C | 10 | a0002c0002t0001g0146a0002c0002t0001g0156a0002c0002t0001g0158others(7): Show | 10 | HG00639.hp1 HG00741.hp1 HG01069.hp1 others(7): Show |
intron_variant | MODIFIER | c.285+9882A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120051992 | ||||||
| chr2:120052173
|
G | A | 8 | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0002g0014others(5): Show | 8 | HG01109.hp1 HG01891.hp1 HG02451.hp1 others(5): Show |
intron_variant | MODIFIER | c.285+10063G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120052173 | ||||||
| chr2:120052179
|
C | T | 144 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(141): Show | 144 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(141): Show |
intron_variant | MODIFIER | c.285+10069C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120052179 | ||||||
| chr2:120052308
|
C | T | 2 | a0002c0002t0001g0237a0002c0002t0001g0275 | 2 | NA18954.hp2 NA19091.hp2 |
intron_variant | MODIFIER | c.285+10198C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120052308 | ||||||
| chr2:120052392
|
A | G | 1 | a0001c0001t0002g0019 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.285+10282A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120052392 | ||||||
| chr2:120052486
|
G | A | 17 | a0002c0002t0001g0155a0002c0002t0001g0202a0002c0002t0001g0206others(14): Show | 17 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(14): Show |
intron_variant | MODIFIER | c.285+10376G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120052486 | ||||||
| chr2:120052524
|
C | T | 1 | a0002c0002t0001g0260 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.285+10414C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120052524 | ||||||
| chr2:120052612
|
C | T | 1 | a0001c0001t0003g0070 | 1 | NA18991.hp1 | intron_variant | MODIFIER | c.285+10502C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120052612 | ||||||
| chr2:120052767
|
A | G | 1 | a0001c0001t0002g0001 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.285+10657A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120052767 | ||||||
| chr2:120052846
|
A | G | 2 | a0002c0002t0001g0210a0002c0002t0001g0211 | 2 | HG02486.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.285+10736A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120052846 | ||||||
| chr2:120052890
|
A | T | 109 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(106): Show | 109 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(106): Show |
intron_variant | MODIFIER | c.285+10780A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120052890 | ||||||
| chr2:120052942
|
T | G | 1 | a0002c0002t0001g0202 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.285+10832T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120052942 | ||||||
| chr2:120053006
|
C | T | 1 | a0001c0001t0002g0046 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.285+10896C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120053006 | ||||||
| chr2:120053014
|
A | G | 1 | a0002c0002t0001g0184 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.285+10904A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120053014 | ||||||
| chr2:120053085
|
A | T | 1 | a0001c0001t0002g0031 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.285+10975A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120053085 | ||||||
| chr2:120053086
|
T | A | 1 | a0001c0001t0002g0031 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.285+10976T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120053086 | ||||||
| chr2:120053139
|
A | C | 1 | a0001c0001t0005g0153 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.285+11029A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120053139 | ||||||
| chr2:120053150
|
G | T | 1 | a0001c0001t0002g0063 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.285+11040G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120053150 | ||||||
| chr2:120053439
|
T | C | 1 | a0002c0002t0001g0275 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.285+11329T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120053439 | ||||||
| chr2:120053452
|
T | C | 1 | a0002c0002t0001g0239 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.285+11342T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120053452 | ||||||
| chr2:120053483
|
C | T | 109 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(106): Show | 109 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(106): Show |
intron_variant | MODIFIER | c.285+11373C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120053483 | ||||||
| chr2:120053727
|
A | G | 1 | a0002c0002t0001g0183 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.285+11617A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120053727 | ||||||
| chr2:120053924
|
G | A | 108 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(105): Show | 108 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(105): Show |
intron_variant | MODIFIER | c.285+11814G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120053924 | ||||||
| chr2:120053949
|
T | A | 1 | a0001c0001t0002g0031 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.285+11839T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120053949 | ||||||
| chr2:120054191
|
G | A | 14 | a0001c0001t0002g0028a0001c0001t0002g0029a0001c0001t0002g0030others(11): Show | 14 | HG00423.hp2 HG00609.hp1 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.285+12081G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120054191 | ||||||
| chr2:120054228
|
C | T | 1 | a0001c0001t0002g0019 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.285+12118C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120054228 | ||||||
| chr2:120054498
|
G | A | 1 | a0001c0001t0002g0031 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.285+12388G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120054498 | ||||||
| chr2:120054498
|
G | GT | 7 | a0001c0001t0002g0051a0001c0001t0004g0115a0001c0001t0005g0002others(4): Show | 7 | HG02135.hp2 HG02486.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.285+12402dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120054498 | |||||
| chr2:120054499
|
T | G | 1 | a0001c0001t0002g0031 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.285+12389T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120054499 | ||||||
| chr2:120054530
|
TTCTCACT others(3): Show |
T | 275 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(272): Show | 275 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(272): Show |
intron_variant | MODIFIER | c.285+12421_285+1243 others(14): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120054530 | ||||||
| chr2:120054548
|
G | C | 1 | a0002c0002t0001g0168 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.285+12438G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120054548 | ||||||
| chr2:120054589
|
G | A | 3 | a0001c0001t0009g0137a0001c0001t0009g0138a0002c0002t0001g0245 | 3 | HG01358.hp2 HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.285+12479G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120054589 | ||||||
| chr2:120054635
|
G | T | 1 | a0001c0001t0002g0031 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.285+12525G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120054635 | ||||||
| chr2:120054688
|
T | C | 132 | a0002c0002t0001g0139a0002c0002t0001g0140a0002c0002t0001g0141others(129): Show | 132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.285+12578T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120054688 | ||||||
| chr2:120054798
|
A | G | 107 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(104): Show | 107 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(104): Show |
intron_variant | MODIFIER | c.285+12688A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120054798 | ||||||
| chr2:120054852
|
A | G | 1 | a0001c0001t0003g0086 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.285+12742A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120054852 | ||||||
| chr2:120054863
|
C | T | 144 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(141): Show | 144 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(141): Show |
intron_variant | MODIFIER | c.285+12753C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120054863 | ||||||
| chr2:120054865
|
CT | C | 136 | a0001c0001t0002g0027a0001c0001t0002g0031a0001c0001t0002g0092others(133): Show | 136 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(133): Show |
intron_variant | MODIFIER | c.285+12773delT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120054865 | |||||
| chr2:120054976
|
C | T | 1 | a0001c0001t0005g0154 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.285+12866C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120054976 | ||||||
| chr2:120055023
|
T | C | 275 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(272): Show | 275 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(272): Show |
intron_variant | MODIFIER | c.285+12913T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120055023 | ||||||
| chr2:120055101
|
A | G | 2 | a0002c0002t0001g0208a0002c0002t0001g0209 | 2 | HG01243.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.285+12991A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120055101 | ||||||
| chr2:120055147
|
GCCACCAT others(17): Show |
G | 2 | a0001c0001t0002g0061a0001c0001t0002g0062 | 2 | HG01192.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.285+13038_285+1306 others(28): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120055147 | ||||||
| chr2:120055203
|
C | T | 1 | a0001c0001t0006g0120 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.285+13093C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120055203 | ||||||
| chr2:120055317
|
G | A | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.285+13207G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120055317 | ||||||
| chr2:120055382
|
G | A | 1 | a0001c0001t0002g0080 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.285+13272G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120055382 | ||||||
| chr2:120055481
|
A | AT | 133 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(130): Show | 133 | HG00408.hp1 HG00408.hp2 HG00544.hp2 others(130): Show |
intron_variant | MODIFIER | c.285+13396dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120055481 | |||||
| chr2:120055481
|
A | ATT | 13 | a0001c0001t0002g0012a0001c0001t0002g0027a0001c0001t0002g0041others(10): Show | 13 | HG00423.hp1 HG00423.hp2 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.285+13395_285+1339 others(6): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120055481 | |||||
| chr2:120055481
|
ATTTTTTT others(7): Show |
A | 1 | a0001c0001t0002g0091 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.285+13383_285+1339 others(18): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120055481 | |||||
| chr2:120055537
|
G | A | 1 | a0002c0002t0001g0176 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.285+13427G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120055537 | ||||||
| chr2:120055557
|
C | T | 1 | a0002c0002t0001g0229 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.285+13447C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120055557 | ||||||
| chr2:120055589
|
C | T | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.285+13479C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120055589 | ||||||
| chr2:120055832
|
A | G | 1 | a0001c0001t0006g0120 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.285+13722A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120055832 | ||||||
| chr2:120055945
|
A | G | 1 | a0001c0001t0002g0019 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.285+13835A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120055945 | ||||||
| chr2:120056235
|
AT | A | 8 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(5): Show | 8 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(5): Show |
intron_variant | MODIFIER | c.285+14137delT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120056235 | |||||
| chr2:120056402
|
G | T | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.285+14292G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120056402 | ||||||
| chr2:120056417
|
G | A | 1 | a0002c0002t0001g0245 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.285+14307G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120056417 | ||||||
| chr2:120056601
|
T | G | 1 | a0002c0002t0020g0112 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.285+14491T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120056601 | ||||||
| chr2:120056673
|
C | CT | 270 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(267): Show | 270 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(267): Show |
intron_variant | MODIFIER | c.285+14576dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120056673 | |||||
| chr2:120056717
|
C | T | 1 | a0002c0002t0001g0188 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.285+14607C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120056717 | ||||||
| chr2:120056739
|
C | A | 1 | a0001c0001t0017g0007 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.285+14629C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120056739 | ||||||
| chr2:120056957
|
C | T | 4 | a0002c0002t0001g0195a0002c0002t0001g0210a0002c0002t0001g0211others(1): Show | 4 | HG02083.hp1 HG02486.hp2 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.285+14847C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120056957 | ||||||
| chr2:120057086
|
G | A | 1 | a0001c0001t0017g0007 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.285+14976G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120057086 | ||||||
| chr2:120057179
|
C | T | 1 | a0002c0002t0018g0207 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.285+15069C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120057179 | ||||||
| chr2:120057181
|
C | T | 1 | a0001c0001t0002g0276 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.285+15071C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120057181 | ||||||
| chr2:120057339
|
G | A | 1 | a0002c0002t0001g0146 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.285+15229G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120057339 | ||||||
| chr2:120057424
|
C | G | 52 | a0002c0002t0001g0139a0002c0002t0001g0147a0002c0002t0001g0149others(49): Show | 52 | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(49): Show |
intron_variant | MODIFIER | c.285+15314C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120057424 | ||||||
| chr2:120057499
|
A | G | 1 | a0002c0002t0001g0245 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.285+15389A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120057499 | ||||||
| chr2:120057622
|
A | G | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.285+15512A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120057622 | ||||||
| chr2:120057703
|
T | A | 1 | a0001c0001t0002g0043 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.286-15475T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120057703 | ||||||
| chr2:120057745
|
C | CT | 146 | a0001c0001t0002g0061a0001c0001t0002g0062a0001c0001t0004g0107others(143): Show | 146 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(143): Show |
intron_variant | MODIFIER | c.286-15424dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120057745 | |||||
| chr2:120057838
|
G | C | 9 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(6): Show | 9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.286-15340G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120057838 | ||||||
| chr2:120058075
|
T | C | 2 | a0001c0001t0002g0061a0001c0001t0002g0062 | 2 | HG01192.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.286-15103T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120058075 | ||||||
| chr2:120058235
|
G | A | 1 | a0002c0002t0001g0180 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.286-14943G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120058235 | ||||||
| chr2:120058500
|
G | T | 133 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(130): Show | 133 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(130): Show |
intron_variant | MODIFIER | c.286-14678G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120058500 | ||||||
| chr2:120058522
|
G | A | 1 | a0002c0002t0001g0237 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.286-14656G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120058522 | ||||||
| chr2:120058572
|
G | A | 1 | a0002c0002t0018g0207 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.286-14606G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120058572 | ||||||
| chr2:120058689
|
G | C | 1 | a0002c0002t0001g0192 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.286-14489G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120058689 | ||||||
| chr2:120058790
|
C | T | 132 | a0002c0002t0001g0139a0002c0002t0001g0140a0002c0002t0001g0141others(129): Show | 132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.286-14388C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120058790 | ||||||
| chr2:120058868
|
A | G | 1 | a0002c0002t0001g0163 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.286-14310A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120058868 | ||||||
| chr2:120059462
|
T | A | 1 | a0001c0001t0002g0031 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.286-13716T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120059462 | ||||||
| chr2:120059594
|
C | T | 2 | a0001c0001t0002g0102a0001c0001t0002g0103 | 2 | HG02257.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.286-13584C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120059594 | ||||||
| chr2:120059726
|
G | C | 7 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(4): Show | 7 | HG02109.hp2 HG02572.hp1 HG02809.hp1 others(4): Show |
intron_variant | MODIFIER | c.286-13452G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120059726 | ||||||
| chr2:120059739
|
C | CA | 5 | a0001c0001t0006g0121a0002c0002t0001g0181a0002c0002t0001g0201others(2): Show | 5 | HG01261.hp2 HG01928.hp2 HG02896.hp1 others(2): Show |
intron_variant | MODIFIER | c.286-13430dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120059739 | |||||
| chr2:120060139
|
G | A | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.286-13039G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120060139 | ||||||
| chr2:120060204
|
A | C | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.286-12974A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120060204 | ||||||
| chr2:120060436
|
G | T | 2 | a0001c0001t0002g0059a0001c0001t0002g0109 | 2 | HG02451.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.286-12742G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120060436 | ||||||
| chr2:120060445
|
A | G | 1 | a0001c0001t0002g0049 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.286-12733A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120060445 | ||||||
| chr2:120060479
|
G | A | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.286-12699G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120060479 | ||||||
| chr2:120060608
|
G | T | 1 | a0001c0001t0017g0007 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.286-12570G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120060608 | ||||||
| chr2:120060921
|
A | G | 1 | a0002c0002t0001g0245 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.286-12257A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120060921 | ||||||
| chr2:120061031
|
G | GT | 17 | a0001c0001t0002g0009a0001c0001t0002g0019a0001c0001t0002g0020others(14): Show | 17 | HG00544.hp2 HG01192.hp1 HG01516.hp2 others(14): Show |
intron_variant | MODIFIER | c.286-12120dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120061031 | |||||
| chr2:120061031
|
G | GTT | 12 | a0001c0001t0002g0053a0001c0001t0004g0113a0001c0001t0004g0114others(9): Show | 12 | HG01243.hp2 HG01517.hp1 HG02572.hp1 others(9): Show |
intron_variant | MODIFIER | c.286-12121_286-1212 others(6): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120061031 | |||||
| chr2:120061031
|
G | GTTT | 69 | a0001c0001t0002g0008a0001c0001t0002g0103a0001c0001t0004g0118others(66): Show | 69 | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(66): Show |
intron_variant | MODIFIER | c.286-12122_286-1212 others(7): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120061031 | |||||
| chr2:120061031
|
G | GTTTT | 45 | a0001c0001t0005g0003a0001c0001t0005g0005a0001c0001t0005g0006others(42): Show | 45 | HG00639.hp1 HG00735.hp1 HG00741.hp1 others(42): Show |
intron_variant | MODIFIER | c.286-12123_286-1212 others(8): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120061031 | |||||
| chr2:120061031
|
G | GTTTTT | 8 | a0001c0001t0005g0002a0001c0001t0005g0004a0002c0002t0001g0174others(5): Show | 8 | HG00423.hp1 HG01952.hp2 HG02148.hp1 others(5): Show |
intron_variant | MODIFIER | c.286-12124_286-1212 others(9): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120061031 | |||||
| chr2:120061031
|
G | GTTTTTT | 13 | a0001c0001t0006g0128a0002c0002t0001g0136a0002c0002t0001g0155others(10): Show | 13 | HG01081.hp2 HG01192.hp2 HG01261.hp1 others(10): Show |
intron_variant | MODIFIER | c.286-12125_286-1212 others(10): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120061031 | |||||
| chr2:120061031
|
G | GTTTTTTT | 10 | a0001c0001t0006g0126a0001c0001t0006g0127a0001c0001t0009g0138others(7): Show | 10 | HG01257.hp1 HG02280.hp2 HG02622.hp1 others(7): Show |
intron_variant | MODIFIER | c.286-12126_286-1212 others(11): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120061031 | |||||
| chr2:120061031
|
G | GTTTTTTT others(4): Show |
2 | a0001c0001t0005g0150a0001c0001t0005g0153 | 2 | HG01070.hp2 HG01943.hp1 |
intron_variant | MODIFIER | c.286-12130_286-1212 others(15): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120061031 | |||||
| chr2:120061031
|
G | GTTTTTTT others(5): Show |
3 | a0001c0001t0004g0107a0001c0001t0005g0151a0001c0001t0005g0154 | 3 | HG00738.hp1 HG01071.hp2 HG01346.hp1 |
intron_variant | MODIFIER | c.286-12131_286-1212 others(16): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120061031 | |||||
| chr2:120061031
|
G | GTTTTTTT others(6): Show |
1 | a0001c0001t0004g0108 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.286-12132_286-1212 others(17): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120061031 | |||||
| chr2:120061031
|
G | GTTTTTTT others(9): Show |
1 | a0001c0001t0005g0152 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.286-12135_286-1212 others(20): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120061031 | |||||
| chr2:120061031
|
GTTTTTTT others(6): Show |
G | 1 | a0002c0002t0001g0165 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.286-12132_286-1212 others(17): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120061031 | |||||
| chr2:120061168
|
G | A | 145 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(142): Show | 145 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(142): Show |
intron_variant | MODIFIER | c.286-12010G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120061168 | ||||||
| chr2:120061188
|
A | G | 145 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(142): Show | 145 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(142): Show |
intron_variant | MODIFIER | c.286-11990A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120061188 | ||||||
| chr2:120061228
|
A | AT | 87 | a0001c0001t0002g0001a0001c0001t0002g0010a0001c0001t0002g0016others(84): Show | 87 | HG00423.hp2 HG00609.hp1 HG00738.hp2 others(84): Show |
intron_variant | MODIFIER | c.286-11938dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120061228 | |||||
| chr2:120061234
|
T | A | 2 | a0002c0002t0001g0195a0002c0002t0001g0214 | 2 | HG02083.hp1 HG02622.hp2 |
intron_variant | MODIFIER | c.286-11944T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120061234 | ||||||
| chr2:120061253
|
C | T | 21 | a0001c0001t0002g0020a0001c0001t0004g0113a0001c0001t0004g0114others(18): Show | 21 | HG00544.hp2 HG00735.hp1 HG01243.hp2 others(18): Show |
intron_variant | MODIFIER | c.286-11925C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120061253 | ||||||
| chr2:120061297
|
A | G | 108 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(105): Show | 108 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(105): Show |
intron_variant | MODIFIER | c.286-11881A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120061297 | ||||||
| chr2:120061379
|
C | T | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.286-11799C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120061379 | ||||||
| chr2:120061384
|
G | A | 1 | a0001c0001t0004g0130 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.286-11794G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120061384 | ||||||
| chr2:120061519
|
G | A | 1 | a0002c0002t0001g0172 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.286-11659G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120061519 | ||||||
| chr2:120061653
|
A | G | 1 | a0002c0002t0001g0253 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.286-11525A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120061653 | ||||||
| chr2:120061758
|
G | C | 9 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(6): Show | 9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.286-11420G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120061758 | ||||||
| chr2:120061763
|
G | T | 1 | a0001c0001t0002g0060 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.286-11415G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120061763 | ||||||
| chr2:120061900
|
A | G | 1 | a0001c0001t0002g0094 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.286-11278A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120061900 | ||||||
| chr2:120061971
|
C | A | 1 | a0001c0001t0002g0051 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.286-11207C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120061971 | ||||||
| chr2:120061986
|
T | G | 1 | a0002c0002t0001g0185 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.286-11192T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120061986 | ||||||
| chr2:120062209
|
C | T | 1 | a0002c0002t0001g0146 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.286-10969C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120062209 | ||||||
| chr2:120062210
|
A | T | 3 | a0002c0002t0001g0210a0002c0002t0001g0211a0002c0002t0018g0207 | 3 | HG02486.hp2 HG03453.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.286-10968A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120062210 | ||||||
| chr2:120062271
|
A | G | 1 | a0002c0002t0001g0236 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.286-10907A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120062271 | ||||||
| chr2:120062398
|
A | G | 1 | a0002c0002t0001g0188 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.286-10780A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120062398 | ||||||
| chr2:120062556
|
A | T | 3 | a0002c0002t0001g0156a0002c0002t0001g0221a0002c0002t0001g0222 | 3 | NA18946.hp1 NA19077.hp2 NA19084.hp1 |
intron_variant | MODIFIER | c.286-10622A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120062556 | ||||||
| chr2:120062672
|
T | G | 2 | a0001c0001t0002g0102a0001c0001t0002g0103 | 2 | HG02257.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.286-10506T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120062672 | ||||||
| chr2:120062675
|
A | G | 12 | a0001c0001t0002g0001a0001c0001t0002g0026a0001c0001t0002g0027others(9): Show | 12 | HG00738.hp2 HG01081.hp1 HG01167.hp2 others(9): Show |
intron_variant | MODIFIER | c.286-10503A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120062675 | ||||||
| chr2:120062760
|
C | T | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.286-10418C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120062760 | ||||||
| chr2:120062847
|
C | CTTAAGA | 145 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(142): Show | 145 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(142): Show |
intron_variant | MODIFIER | c.286-10329_286-1032 others(10): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120062847 | |||||
| chr2:120062957
|
T | C | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.286-10221T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120062957 | ||||||
| chr2:120063202
|
T | C | 145 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(142): Show | 145 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(142): Show |
intron_variant | MODIFIER | c.286-9976T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120063202 | ||||||
| chr2:120063340
|
C | CA | 19 | a0001c0001t0002g0094a0001c0001t0002g0110a0001c0001t0006g0120others(16): Show | 19 | HG00735.hp1 HG01981.hp1 HG01981.hp2 others(16): Show |
intron_variant | MODIFIER | c.286-9818dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120063340 | |||||
| chr2:120063340
|
CA | C | 12 | a0001c0001t0002g0031a0001c0001t0002g0053a0001c0001t0007g0074others(9): Show | 12 | HG01257.hp1 HG01257.hp2 HG02486.hp2 others(9): Show |
intron_variant | MODIFIER | c.286-9818delA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120063340 | |||||
| chr2:120063445
|
G | A | 145 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(142): Show | 145 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(142): Show |
intron_variant | MODIFIER | c.286-9733G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120063445 | ||||||
| chr2:120063487
|
A | G | 3 | a0002c0002t0001g0202a0002c0002t0001g0215a0002c0002t0001g0216 | 3 | HG02055.hp1 HG02280.hp2 HG02630.hp1 |
intron_variant | MODIFIER | c.286-9691A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120063487 | ||||||
| chr2:120063636
|
C | T | 1 | a0002c0002t0001g0222 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.286-9542C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120063636 | ||||||
| chr2:120063711
|
C | T | 1 | a0002c0002t0001g0199 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.286-9467C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120063711 | ||||||
| chr2:120063723
|
A | C | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.286-9455A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120063723 | ||||||
| chr2:120063800
|
G | T | 1 | a0002c0002t0001g0188 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.286-9378G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120063800 | ||||||
| chr2:120063802
|
C | T | 1 | a0001c0001t0002g0027 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.286-9376C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120063802 | ||||||
| chr2:120063806
|
G | A | 1 | a0002c0002t0001g0208 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.286-9372G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120063806 | ||||||
| chr2:120063928
|
G | A | 2 | a0002c0002t0001g0240a0002c0002t0001g0241 | 2 | NA18957.hp2 NA18995.hp2 |
intron_variant | MODIFIER | c.286-9250G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120063928 | ||||||
| chr2:120063955
|
A | G | 1 | a0001c0001t0007g0074 | 1 | NA19083.hp2 | intron_variant | MODIFIER | c.286-9223A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120063955 | ||||||
| chr2:120063983
|
G | A | 1 | a0002c0002t0001g0226 | 1 | NA18991.hp2 | intron_variant | MODIFIER | c.286-9195G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120063983 | ||||||
| chr2:120064042
|
A | C | 136 | a0001c0001t0002g0051a0001c0001t0002g0065a0001c0001t0002g0066others(133): Show | 136 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(133): Show |
intron_variant | MODIFIER | c.286-9136A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120064042 | ||||||
| chr2:120064163
|
A | T | 3 | a0002c0002t0001g0210a0002c0002t0001g0211a0002c0002t0018g0207 | 3 | HG02486.hp2 HG03453.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.286-9015A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120064163 | ||||||
| chr2:120064201
|
A | G | 2 | a0002c0002t0001g0210a0002c0002t0001g0211 | 2 | HG02486.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.286-8977A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120064201 | ||||||
| chr2:120064271
|
G | T | 1 | a0001c0001t0002g0064 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.286-8907G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120064271 | ||||||
| chr2:120064392
|
G | T | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.286-8786G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120064392 | ||||||
| chr2:120064414
|
A | G | 1 | a0001c0001t0002g0012 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.286-8764A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120064414 | ||||||
| chr2:120064479
|
G | A | 7 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(4): Show | 7 | HG02109.hp2 HG02572.hp1 HG02809.hp1 others(4): Show |
intron_variant | MODIFIER | c.286-8699G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120064479 | ||||||
| chr2:120064815
|
T | C | 1 | a0002c0002t0010g0157 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.286-8363T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120064815 | ||||||
| chr2:120064852
|
C | T | 2 | a0002c0002t0001g0239a0002c0002t0001g0244 | 2 | NA18949.hp1 NA18977.hp1 |
intron_variant | MODIFIER | c.286-8326C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120064852 | ||||||
| chr2:120065076
|
A | G | 1 | a0002c0002t0025g0142 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.286-8102A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120065076 | ||||||
| chr2:120065305
|
G | A | 145 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(142): Show | 145 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(142): Show |
intron_variant | MODIFIER | c.286-7873G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120065305 | ||||||
| chr2:120065515
|
C | CT | 234 | a0001c0001t0002g0008a0001c0001t0002g0009a0001c0001t0002g0010others(231): Show | 234 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(231): Show |
intron_variant | MODIFIER | c.286-7648dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120065515 | |||||
| chr2:120065515
|
C | CTT | 17 | a0001c0001t0002g0001a0001c0001t0002g0026a0001c0001t0002g0027others(14): Show | 17 | HG00738.hp2 HG01081.hp1 HG01167.hp2 others(14): Show |
intron_variant | MODIFIER | c.286-7649_286-7648d others(4): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120065515 | |||||
| chr2:120066018
|
A | T | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.286-7160A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120066018 | ||||||
| chr2:120066135
|
T | C | 275 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(272): Show | 275 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(272): Show |
intron_variant | MODIFIER | c.286-7043T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120066135 | ||||||
| chr2:120066173
|
A | G | 112 | a0002c0002t0001g0139a0002c0002t0001g0140a0002c0002t0001g0141others(109): Show | 112 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(109): Show |
intron_variant | MODIFIER | c.286-7005A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120066173 | ||||||
| chr2:120066419
|
A | G | 4 | a0001c0001t0002g0022a0001c0001t0002g0023a0001c0001t0002g0024others(1): Show | 4 | HG01069.hp2 HG01071.hp1 HG01943.hp2 others(1): Show |
intron_variant | MODIFIER | c.286-6759A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120066419 | ||||||
| chr2:120066470
|
C | T | 108 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(105): Show | 108 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(105): Show |
intron_variant | MODIFIER | c.286-6708C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120066470 | ||||||
| chr2:120066486
|
T | A | 1 | a0001c0001t0002g0020 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.286-6692T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120066486 | ||||||
| chr2:120066652
|
A | G | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.286-6526A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120066652 | ||||||
| chr2:120066658
|
T | A | 1 | a0001c0001t0002g0037 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.286-6520T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120066658 | ||||||
| chr2:120066854
|
A | C | 1 | a0002c0002t0001g0172 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.286-6324A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120066854 | ||||||
| chr2:120067023
|
C | T | 4 | a0002c0002t0001g0202a0002c0002t0001g0214a0002c0002t0001g0215others(1): Show | 4 | HG02055.hp1 HG02280.hp2 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.286-6155C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120067023 | ||||||
| chr2:120067039
|
C | T | 2 | a0001c0001t0002g0018a0006c0006t0014g0111 | 2 | HG01255.hp2 HG04204.hp1 |
intron_variant | MODIFIER | c.286-6139C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120067039 | ||||||
| chr2:120067078
|
C | T | 1 | a0002c0002t0001g0214 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.286-6100C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120067078 | ||||||
| chr2:120067438
|
T | C | 147 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(144): Show | 147 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(144): Show |
intron_variant | MODIFIER | c.286-5740T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120067438 | ||||||
| chr2:120067651
|
T | C | 8 | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0002g0014others(5): Show | 8 | HG01109.hp1 HG01891.hp1 HG02451.hp1 others(5): Show |
intron_variant | MODIFIER | c.286-5527T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120067651 | ||||||
| chr2:120067927
|
C | A | 145 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(142): Show | 145 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(142): Show |
intron_variant | MODIFIER | c.286-5251C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120067927 | ||||||
| chr2:120068069
|
A | C | 1 | a0002c0002t0001g0275 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.286-5109A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120068069 | ||||||
| chr2:120068102
|
T | G | 1 | a0002c0002t0001g0173 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.286-5076T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120068102 | ||||||
| chr2:120068332
|
T | G | 10 | a0001c0001t0006g0120a0001c0001t0006g0121a0001c0001t0006g0122others(7): Show | 10 | HG00735.hp1 HG02630.hp2 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.286-4846T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120068332 | ||||||
| chr2:120068355
|
G | T | 9 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(6): Show | 9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.286-4823G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120068355 | ||||||
| chr2:120068528
|
C | T | 1 | a0002c0002t0001g0185 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.286-4650C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120068528 | ||||||
| chr2:120068540
|
C | T | 145 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(142): Show | 145 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(142): Show |
intron_variant | MODIFIER | c.286-4638C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120068540 | ||||||
| chr2:120068598
|
G | C | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.286-4580G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120068598 | ||||||
| chr2:120068685
|
T | C | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.286-4493T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120068685 | ||||||
| chr2:120068722
|
A | G | 1 | a0001c0001t0002g0064 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.286-4456A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120068722 | ||||||
| chr2:120068826
|
TA | T | 112 | a0002c0002t0001g0139a0002c0002t0001g0140a0002c0002t0001g0141others(109): Show | 112 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(109): Show |
intron_variant | MODIFIER | c.286-4342delA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120068826 | |||||
| chr2:120068899
|
G | A | 1 | a0002c0002t0021g0161 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.286-4279G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120068899 | ||||||
| chr2:120068971
|
T | C | 1 | a0002c0002t0001g0225 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.286-4207T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120068971 | ||||||
| chr2:120069079
|
G | C | 1 | a0001c0001t0003g0070 | 1 | NA18991.hp1 | intron_variant | MODIFIER | c.286-4099G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120069079 | ||||||
| chr2:120069128
|
C | CA | 25 | a0001c0001t0002g0032a0001c0001t0002g0039a0001c0001t0002g0041others(22): Show | 25 | HG00423.hp2 HG01081.hp1 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.286-4011dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120069128 | |||||
| chr2:120069128
|
C | CAA | 29 | a0001c0001t0002g0001a0001c0001t0002g0014a0001c0001t0002g0015others(26): Show | 29 | HG00609.hp1 HG01069.hp2 HG01071.hp1 others(26): Show |
intron_variant | MODIFIER | c.286-4012_286-4011d others(4): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120069128 | |||||
| chr2:120069128
|
C | CAAA | 19 | a0001c0001t0002g0017a0001c0001t0002g0018a0001c0001t0002g0021others(16): Show | 19 | HG00738.hp2 HG01358.hp1 HG01516.hp2 others(16): Show |
intron_variant | MODIFIER | c.286-4013_286-4011d others(5): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120069128 | |||||
| chr2:120069128
|
C | CAAAAAAA others(3): Show |
1 | a0001c0001t0002g0054 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.286-4020_286-4011d others(12): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120069128 | |||||
| chr2:120069128
|
C | CAAAAAAA others(4): Show |
2 | a0001c0001t0003g0069a0001c0001t0003g0073 | 2 | NA18949.hp2 NA19010.hp2 |
intron_variant | MODIFIER | c.286-4021_286-4011d others(13): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120069128 | |||||
| chr2:120069128
|
C | CAAAAAAA others(7): Show |
1 | a0001c0001t0002g0053 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.286-4024_286-4011d others(16): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120069128 | |||||
| chr2:120069128
|
C | CAAAAAAA others(8): Show |
2 | a0001c0001t0002g0008a0001c0001t0002g0094 | 2 | HG00639.hp2 NA18990.hp1 |
intron_variant | MODIFIER | c.286-4025_286-4011d others(17): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120069128 | |||||
| chr2:120069128
|
C | CAAAAAAA others(10): Show |
1 | a0001c0001t0003g0011 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.286-4027_286-4011d others(19): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120069128 | |||||
| chr2:120069128
|
C | CAAAAAAA others(11): Show |
2 | a0001c0001t0003g0068a0001c0001t0003g0086 | 2 | NA19000.hp2 NA19004.hp2 |
intron_variant | MODIFIER | c.286-4028_286-4011d others(20): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120069128 | |||||
| chr2:120069128
|
C | CAAAAAAA others(13): Show |
3 | a0001c0001t0002g0009a0001c0001t0002g0052a0001c0001t0002g0062 | 3 | HG01192.hp1 HG02896.hp2 NA18954.hp1 |
intron_variant | MODIFIER | c.286-4030_286-4011d others(22): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120069128 | |||||
| chr2:120069128
|
C | CAAAAAAA others(20): Show |
1 | a0001c0001t0002g0013 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.286-4037_286-4011d others(29): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120069128 | |||||
| chr2:120069128
|
CAA | C | 6 | a0001c0001t0006g0121a0001c0001t0006g0122a0001c0001t0006g0127others(3): Show | 6 | HG02647.hp1 HG02896.hp1 HG02897.hp1 others(3): Show |
intron_variant | MODIFIER | c.286-4012_286-4011d others(4): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120069128 | |||||
| chr2:120069128
|
CAAAAAAA others(3): Show |
C | 1 | a0001c0001t0002g0103 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.286-4020_286-4011d others(12): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120069128 | |||||
| chr2:120069128
|
CAAAAAAA others(4): Show |
C | 1 | a0001c0001t0002g0102 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.286-4021_286-4011d others(13): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120069128 | |||||
| chr2:120069128
|
CAAAAAAA others(5): Show |
C | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.286-4022_286-4011d others(14): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120069128 | |||||
| chr2:120069128
|
CAAAAAAA others(6): Show |
C | 2 | a0001c0001t0002g0025a0001c0001t0002g0132 | 2 | HG02698.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.286-4023_286-4011d others(15): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120069128 | |||||
| chr2:120069128
|
CAAAAAAA others(9): Show |
C | 2 | a0001c0001t0002g0019a0001c0001t0002g0095 | 2 | HG01175.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.286-4026_286-4011d others(18): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120069128 | |||||
| chr2:120069128
|
CAAAAAAA others(12): Show |
C | 1 | a0001c0001t0004g0115 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.286-4029_286-4011d others(21): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120069128 | |||||
| chr2:120069128
|
CAAAAAAA others(13): Show |
C | 8 | a0001c0001t0003g0078a0001c0001t0003g0083a0002c0002t0001g0149others(5): Show | 8 | HG00544.hp1 HG00741.hp1 HG01928.hp2 others(5): Show |
intron_variant | MODIFIER | c.286-4030_286-4011d others(22): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120069128 | |||||
| chr2:120069128
|
CAAAAAAA others(14): Show |
C | 137 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(134): Show | 137 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(134): Show |
intron_variant | MODIFIER | c.286-4031_286-4011d others(23): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120069128 | |||||
| chr2:120069128
|
CAAAAAAA others(15): Show |
C | 2 | a0002c0002t0001g0235a0002c0002t0001g0251 | 2 | HG01975.hp2 NA18942.hp2 |
intron_variant | MODIFIER | c.286-4032_286-4011d others(24): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120069128 | |||||
| chr2:120069272
|
T | G | 1 | a0001c0001t0002g0019 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.286-3906T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120069272 | ||||||
| chr2:120069282
|
A | G | 1 | a0002c0002t0001g0245 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.286-3896A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120069282 | ||||||
| chr2:120069371
|
G | A | 20 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(17): Show | 20 | HG00735.hp1 HG01243.hp2 HG02109.hp2 others(17): Show |
intron_variant | MODIFIER | c.286-3807G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120069371 | ||||||
| chr2:120069474
|
A | G | 1 | a0002c0002t0001g0212 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.286-3704A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120069474 | ||||||
| chr2:120069508
|
C | T | 1 | a0002c0002t0001g0220 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.286-3670C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120069508 | ||||||
| chr2:120069534
|
C | A | 2 | a0002c0002t0001g0210a0002c0002t0001g0211 | 2 | HG02486.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.286-3644C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120069534 | ||||||
| chr2:120069548
|
A | G | 20 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(17): Show | 20 | HG00735.hp1 HG01243.hp2 HG02109.hp2 others(17): Show |
intron_variant | MODIFIER | c.286-3630A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120069548 | ||||||
| chr2:120069711
|
A | G | 5 | a0001c0001t0004g0115a0001c0001t0004g0116a0001c0001t0004g0117others(2): Show | 5 | HG02109.hp2 HG02809.hp1 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.286-3467A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120069711 | ||||||
| chr2:120069739
|
G | T | 1 | a0004c0007t0001g0270 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.286-3439G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120069739 | ||||||
| chr2:120069749
|
A | G | 10 | a0001c0001t0006g0120a0001c0001t0006g0121a0001c0001t0006g0122others(7): Show | 10 | HG00735.hp1 HG02630.hp2 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.286-3429A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120069749 | ||||||
| chr2:120069861
|
G | A | 1 | a0002c0002t0023g0148 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.286-3317G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120069861 | ||||||
| chr2:120069876
|
A | G | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.286-3302A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120069876 | ||||||
| chr2:120069890
|
C | T | 5 | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0002g0014others(2): Show | 5 | HG01891.hp1 HG02559.hp1 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.286-3288C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120069890 | ||||||
| chr2:120069895
|
C | T | 4 | a0002c0002t0001g0202a0002c0002t0001g0214a0002c0002t0001g0215others(1): Show | 4 | HG02055.hp1 HG02280.hp2 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.286-3283C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120069895 | ||||||
| chr2:120070011
|
A | G | 1 | a0002c0002t0001g0202 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.286-3167A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120070011 | ||||||
| chr2:120070143
|
A | T | 133 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(130): Show | 133 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(130): Show |
intron_variant | MODIFIER | c.286-3035A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120070143 | ||||||
| chr2:120070190
|
A | C | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.286-2988A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120070190 | ||||||
| chr2:120070334
|
A | C | 133 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(130): Show | 133 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(130): Show |
intron_variant | MODIFIER | c.286-2844A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120070334 | ||||||
| chr2:120070425
|
C | T | 1 | a0002c0002t0001g0170 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.286-2753C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120070425 | ||||||
| chr2:120070464
|
C | T | 1 | a0002c0002t0001g0199 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.286-2714C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120070464 | ||||||
| chr2:120070491
|
A | T | 1 | a0001c0001t0004g0118 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.286-2687A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120070491 | ||||||
| chr2:120070678
|
T | G | 2 | a0002c0002t0001g0208a0002c0002t0001g0209 | 2 | HG01243.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.286-2500T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120070678 | ||||||
| chr2:120070701
|
G | A | 9 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(6): Show | 9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.286-2477G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120070701 | ||||||
| chr2:120070942
|
G | A | 2 | a0001c0001t0002g0019a0001c0001t0002g0095 | 2 | HG01175.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.286-2236G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120070942 | ||||||
| chr2:120071011
|
T | G | 2 | a0001c0001t0002g0044a0001c0001t0002g0045 | 2 | HG02683.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.286-2167T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120071011 | ||||||
| chr2:120071016
|
C | T | 4 | a0001c0001t0002g0010a0001c0001t0002g0047a0001c0001t0002g0048others(1): Show | 4 | NA18948.hp2 NA18995.hp1 NA19060.hp1 others(1): Show |
intron_variant | MODIFIER | c.286-2162C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120071016 | ||||||
| chr2:120071244
|
A | C | 133 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(130): Show | 133 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(130): Show |
intron_variant | MODIFIER | c.286-1934A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120071244 | ||||||
| chr2:120071397
|
C | T | 1 | a0002c0002t0001g0155 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.286-1781C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120071397 | ||||||
| chr2:120071458
|
C | G | 3 | a0002c0002t0001g0210a0002c0002t0001g0211a0002c0002t0018g0207 | 3 | HG02486.hp2 HG03453.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.286-1720C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120071458 | ||||||
| chr2:120071654
|
A | G | 133 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(130): Show | 133 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(130): Show |
intron_variant | MODIFIER | c.286-1524A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120071654 | ||||||
| chr2:120072036
|
C | T | 2 | a0002c0002t0001g0210a0002c0002t0001g0211 | 2 | HG02486.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.286-1142C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120072036 | ||||||
| chr2:120072538
|
C | T | 3 | a0002c0002t0001g0234a0002c0002t0001g0235a0002c0002t0001g0236 | 3 | NA18942.hp2 NA18993.hp1 NA19060.hp2 |
intron_variant | MODIFIER | c.286-640C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120072538 | ||||||
| chr2:120072675
|
C | G | 1 | a0001c0001t0006g0120 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.286-503C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120072675 | ||||||
| chr2:120072694
|
A | G | 6 | a0002c0002t0001g0212a0002c0002t0001g0220a0002c0002t0001g0225others(3): Show | 6 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(3): Show |
intron_variant | MODIFIER | c.286-484A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120072694 | ||||||
| chr2:120072711
|
A | C | 1 | a0002c0002t0001g0223 | 1 | NA19001.hp1 | intron_variant | MODIFIER | c.286-467A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120072711 | ||||||
| chr2:120072729
|
A | G | 1 | a0001c0001t0002g0013 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.286-449A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120072729 | ||||||
| chr2:120072929
|
T | TA | 145 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(142): Show | 145 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(142): Show |
intron_variant | MODIFIER | c.286-236dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | 120072929 | |||||
| chr2:120072977
|
G | T | 1 | a0002c0002t0001g0192 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.286-201G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120072977 | ||||||
| chr2:120073001
|
G | A | 1 | a0002c0002t0018g0207 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.286-177G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120073001 | ||||||
| chr2:120073051
|
T | G | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.286-127T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | 120073051 | ||||||
| chr2:120073239
|
A | G | 145 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(142): Show | 145 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(142): Show |
intron_variant | MODIFIER | c.328+19A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 4/24 | chr2 | 120073239 | ||||||
| chr2:120073245
|
G | A | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.328+25G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 4/24 | chr2 | 120073245 | ||||||
| chr2:120073431
|
T | C | 133 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(130): Show | 133 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(130): Show |
intron_variant | MODIFIER | c.328+211T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 4/24 | chr2 | 120073431 | ||||||
| chr2:120074078
|
C | CT | 21 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(18): Show | 21 | HG00735.hp1 HG01243.hp2 HG02055.hp1 others(18): Show |
intron_variant | MODIFIER | c.329-10dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr2 | 120074078 | |||||
| chr2:120074381
|
G | A | 1 | a0002c0002t0001g0262 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.407+203G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 5/24 | chr2 | 120074381 | ||||||
| chr2:120074584
|
T | C | 1 | a0002c0002t0001g0188 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.407+406T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 5/24 | chr2 | 120074584 | ||||||
| chr2:120074785
|
T | C | 1 | a0002c0002t0001g0143 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.407+607T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 5/24 | chr2 | 120074785 | ||||||
| chr2:120074845
|
C | G | 147 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(144): Show | 147 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(144): Show |
intron_variant | MODIFIER | c.408-631C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 5/24 | chr2 | 120074845 | ||||||
| chr2:120074905
|
G | A | 1 | a0001c0001t0005g0154 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.408-571G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 5/24 | chr2 | 120074905 | ||||||
| chr2:120074986
|
C | T | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.408-490C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 5/24 | chr2 | 120074986 | ||||||
| chr2:120074999
|
G | T | 145 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(142): Show | 145 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(142): Show |
intron_variant | MODIFIER | c.408-477G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 5/24 | chr2 | 120074999 | ||||||
| chr2:120075191
|
C | T | 1 | a0002c0002t0001g0212 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.408-285C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 5/24 | chr2 | 120075191 | ||||||
| chr2:120075283
|
G | A | 275 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(272): Show | 275 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(272): Show |
intron_variant | MODIFIER | c.408-193G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 5/24 | chr2 | 120075283 | ||||||
| chr2:120075534
|
A | G | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.452+14A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 6/24 | chr2 | 120075534 | ||||||
| chr2:120075599
|
G | A | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.452+79G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 6/24 | chr2 | 120075599 | ||||||
| chr2:120075623
|
A | G | 1 | a0001c0001t0002g0106 | 1 | NA18972.hp1 | intron_variant | MODIFIER | c.453-78A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 6/24 | chr2 | 120075623 | ||||||
| chr2:120075624
|
A | G | 4 | a0002c0002t0001g0136a0002c0002t0001g0206a0002c0002t0001g0217others(1): Show | 4 | HG01884.hp2 HG02615.hp1 HG02818.hp1 others(1): Show |
intron_variant | MODIFIER | c.453-77A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 6/24 | chr2 | 120075624 | ||||||
| chr2:120075768
|
T | G | 1 | a0002c0002t0001g0171 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.505+15T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 7/24 | chr2 | 120075768 | ||||||
| chr2:120076007
|
G | T | 100 | a0002c0002t0001g0139a0002c0002t0001g0140a0002c0002t0001g0141others(97): Show | 100 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(97): Show |
intron_variant | MODIFIER | c.505+254G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 7/24 | chr2 | 120076007 | ||||||
| chr2:120076173
|
C | T | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.505+420C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 7/24 | chr2 | 120076173 | ||||||
| chr2:120076376
|
T | C | 1 | a0006c0006t0014g0111 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.506-595T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 7/24 | chr2 | 120076376 | ||||||
| chr2:120076412
|
C | T | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.506-559C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 7/24 | chr2 | 120076412 | ||||||
| chr2:120076470
|
C | CT | 100 | a0001c0001t0002g0046a0001c0001t0002g0064a0002c0002t0001g0139others(97): Show | 100 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(97): Show |
intron_variant | MODIFIER | c.506-475dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr2 | 120076470 | |||||
| chr2:120076470
|
C | CTT | 29 | a0002c0002t0001g0136a0002c0002t0001g0146a0002c0002t0001g0155others(26): Show | 29 | HG00741.hp1 HG01081.hp2 HG01192.hp2 others(26): Show |
intron_variant | MODIFIER | c.506-476_506-475dup others(2): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr2 | 120076470 | |||||
| chr2:120076470
|
CT | C | 103 | a0001c0001t0002g0008a0001c0001t0002g0010a0001c0001t0002g0012others(100): Show | 103 | HG00423.hp2 HG00609.hp1 HG00639.hp2 others(100): Show |
intron_variant | MODIFIER | c.506-475delT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr2 | 120076470 | |||||
| chr2:120076470
|
CTT | C | 9 | a0001c0001t0002g0009a0001c0001t0002g0035a0001c0001t0002g0053others(6): Show | 9 | HG01070.hp2 HG02451.hp1 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.506-476_506-475del others(2): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr2 | 120076470 | |||||
| chr2:120076568
|
G | A | 1 | a0001c0001t0013g0104 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.506-403G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 7/24 | chr2 | 120076568 | ||||||
| chr2:120076641
|
C | T | 1 | a0002c0002t0001g0261 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.506-330C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 7/24 | chr2 | 120076641 | ||||||
| chr2:120077134
|
A | G | 2 | a0002c0002t0001g0210a0002c0002t0001g0211 | 2 | HG02486.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.626+43A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 8/24 | chr2 | 120077134 | ||||||
| chr2:120077195
|
T | G | 1 | a0002c0002t0001g0170 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.627-34T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 8/24 | chr2 | 120077195 | ||||||
| chr2:120077369
|
A | C | 2 | a0001c0001t0002g0092a0001c0001t0002g0093 | 2 | NA18959.hp2 NA18983.hp2 |
intron_variant | MODIFIER | c.714+53A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 9/24 | chr2 | 120077369 | ||||||
| chr2:120077539
|
T | C | 1 | a0001c0001t0005g0152 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.714+223T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 9/24 | chr2 | 120077539 | ||||||
| chr2:120077638
|
G | A | 145 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(142): Show | 145 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(142): Show |
intron_variant | MODIFIER | c.714+322G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 9/24 | chr2 | 120077638 | ||||||
| chr2:120077644
|
C | T | 275 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(272): Show | 275 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(272): Show |
intron_variant | MODIFIER | c.714+328C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 9/24 | chr2 | 120077644 | ||||||
| chr2:120077712
|
CTT | C | 145 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(142): Show | 145 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(142): Show |
intron_variant | MODIFIER | c.714+398_714+399del others(2): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 9/24 | INFO_REALIGN_3_PRIME | chr2 | 120077712 | |||||
| chr2:120077772
|
C | G | 9 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(6): Show | 9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.714+456C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 9/24 | chr2 | 120077772 | ||||||
| chr2:120077915
|
T | G | 145 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(142): Show | 145 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(142): Show |
intron_variant | MODIFIER | c.715-578T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 9/24 | chr2 | 120077915 | ||||||
| chr2:120077964
|
GGA | G | 20 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(17): Show | 20 | HG00735.hp1 HG01243.hp2 HG02109.hp2 others(17): Show |
intron_variant | MODIFIER | c.715-521_715-520del others(2): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 9/24 | INFO_REALIGN_3_PRIME | chr2 | 120077964 | |||||
| chr2:120078114
|
A | G | 20 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(17): Show | 20 | HG00735.hp1 HG01243.hp2 HG02109.hp2 others(17): Show |
intron_variant | MODIFIER | c.715-379A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 9/24 | chr2 | 120078114 | ||||||
| chr2:120078154
|
G | A | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.715-339G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 9/24 | chr2 | 120078154 | ||||||
| chr2:120078211
|
A | C | 1 | a0002c0002t0018g0207 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.715-282A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 9/24 | chr2 | 120078211 | ||||||
| chr2:120078217
|
A | G | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.715-276A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 9/24 | chr2 | 120078217 | ||||||
| chr2:120078820
|
T | C | 1 | a0001c0001t0017g0007 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.803+239T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120078820 | ||||||
| chr2:120079004
|
C | T | 1 | a0002c0002t0018g0207 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.803+423C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120079004 | ||||||
| chr2:120079080
|
T | C | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.803+499T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120079080 | ||||||
| chr2:120079418
|
A | G | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.803+837A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120079418 | ||||||
| chr2:120079438
|
CCCCTAGG others(4): Show |
C | 1 | a0002c0002t0024g0186 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.803+858_803+868del others(11): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120079438 | ||||||
| chr2:120079587
|
A | G | 2 | a0001c0001t0002g0018a0006c0006t0014g0111 | 2 | HG01255.hp2 HG04204.hp1 |
intron_variant | MODIFIER | c.803+1006A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120079587 | ||||||
| chr2:120079650
|
C | A | 1 | a0002c0002t0001g0213 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.803+1069C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120079650 | ||||||
| chr2:120079934
|
C | A | 2 | a0002c0002t0001g0237a0002c0002t0001g0275 | 2 | NA18954.hp2 NA19091.hp2 |
intron_variant | MODIFIER | c.803+1353C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120079934 | ||||||
| chr2:120080108
|
C | CT | 14 | a0001c0001t0002g0012a0001c0001t0004g0107a0001c0001t0004g0108others(11): Show | 14 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(11): Show |
intron_variant | MODIFIER | c.803+1540dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | INFO_REALIGN_3_PRIME | chr2 | 120080108 | |||||
| chr2:120080108
|
CT | C | 5 | a0001c0001t0002g0037a0002c0002t0001g0191a0002c0002t0001g0228others(2): Show | 5 | HG01952.hp2 HG01975.hp2 HG01981.hp1 others(2): Show |
intron_variant | MODIFIER | c.803+1540delT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | INFO_REALIGN_3_PRIME | chr2 | 120080108 | |||||
| chr2:120080256
|
C | A | 1 | a0002c0002t0001g0145 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.803+1675C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120080256 | ||||||
| chr2:120080272
|
G | A | 1 | a0001c0001t0002g0063 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.803+1691G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120080272 | ||||||
| chr2:120080337
|
G | T | 275 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(272): Show | 275 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(272): Show |
intron_variant | MODIFIER | c.803+1756G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120080337 | ||||||
| chr2:120080435
|
A | G | 1 | a0001c0001t0015g0274 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.803+1854A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120080435 | ||||||
| chr2:120080541
|
T | C | 104 | a0002c0002t0001g0139a0002c0002t0001g0140a0002c0002t0001g0141others(101): Show | 104 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(101): Show |
intron_variant | MODIFIER | c.803+1960T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120080541 | ||||||
| chr2:120080557
|
G | A | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.803+1976G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120080557 | ||||||
| chr2:120080634
|
G | A | 1 | a0005c0005t0002g0057 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.803+2053G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120080634 | ||||||
| chr2:120080680
|
C | T | 25 | a0001c0001t0002g0067a0001c0001t0002g0080a0001c0001t0002g0092others(22): Show | 25 | HG01496.hp1 HG02132.hp2 NA18947.hp1 others(22): Show |
intron_variant | MODIFIER | c.803+2099C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120080680 | ||||||
| chr2:120080868
|
CA | C | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.803+2288delA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120080868 | ||||||
| chr2:120080879
|
G | A | 1 | a0002c0002t0018g0207 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.803+2298G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120080879 | ||||||
| chr2:120080883
|
C | T | 1 | a0002c0002t0001g0205 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.803+2302C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120080883 | ||||||
| chr2:120080885
|
G | T | 1 | a0002c0002t0001g0205 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.803+2304G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120080885 | ||||||
| chr2:120080958
|
G | T | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.803+2377G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120080958 | ||||||
| chr2:120081016
|
G | A | 2 | a0001c0001t0002g0102a0001c0001t0002g0103 | 2 | HG02257.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.803+2435G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120081016 | ||||||
| chr2:120081033
|
C | A | 18 | a0002c0002t0001g0136a0002c0002t0001g0155a0002c0002t0001g0202others(15): Show | 18 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(15): Show |
intron_variant | MODIFIER | c.803+2452C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120081033 | ||||||
| chr2:120081190
|
A | G | 7 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(4): Show | 7 | HG02109.hp2 HG02572.hp1 HG02809.hp1 others(4): Show |
intron_variant | MODIFIER | c.803+2609A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120081190 | ||||||
| chr2:120081318
|
T | C | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.803+2737T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120081318 | ||||||
| chr2:120081326
|
C | T | 11 | a0001c0001t0006g0120a0001c0001t0006g0121a0001c0001t0006g0122others(8): Show | 11 | HG00735.hp1 HG02083.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.803+2745C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120081326 | ||||||
| chr2:120081327
|
G | A | 2 | a0002c0002t0001g0168a0002c0002t0001g0246 | 2 | HG01167.hp1 NA18969.hp1 |
intron_variant | MODIFIER | c.803+2746G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120081327 | ||||||
| chr2:120081377
|
A | G | 21 | a0002c0002t0001g0136a0002c0002t0001g0155a0002c0002t0001g0202others(18): Show | 21 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(18): Show |
intron_variant | MODIFIER | c.803+2796A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120081377 | ||||||
| chr2:120081543
|
A | G | 140 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(137): Show | 140 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(137): Show |
intron_variant | MODIFIER | c.803+2962A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120081543 | ||||||
| chr2:120081579
|
T | C | 140 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(137): Show | 140 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(137): Show |
intron_variant | MODIFIER | c.803+2998T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120081579 | ||||||
| chr2:120081608
|
G | C | 13 | a0002c0002t0001g0139a0002c0002t0001g0205a0002c0002t0001g0224others(10): Show | 13 | HG00408.hp2 HG01433.hp1 HG01978.hp1 others(10): Show |
intron_variant | MODIFIER | c.803+3027G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120081608 | ||||||
| chr2:120081716
|
T | C | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.803+3135T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120081716 | ||||||
| chr2:120081917
|
T | G | 1 | a0002c0002t0001g0209 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.803+3336T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120081917 | ||||||
| chr2:120081952
|
T | C | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.803+3371T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120081952 | ||||||
| chr2:120081984
|
C | G | 1 | a0002c0002t0001g0194 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.803+3403C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120081984 | ||||||
| chr2:120082041
|
C | A | 10 | a0001c0001t0006g0120a0001c0001t0006g0121a0001c0001t0006g0122others(7): Show | 10 | HG00735.hp1 HG02630.hp2 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.803+3460C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120082041 | ||||||
| chr2:120082090
|
A | G | 6 | a0001c0001t0002g0080a0001c0001t0002g0092a0001c0001t0002g0093others(3): Show | 6 | NA18959.hp2 NA18960.hp1 NA18983.hp2 others(3): Show |
intron_variant | MODIFIER | c.803+3509A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120082090 | ||||||
| chr2:120082186
|
C | G | 36 | a0002c0002t0001g0163a0002c0002t0001g0164a0002c0002t0001g0165others(33): Show | 36 | HG00408.hp1 HG00609.hp2 HG01169.hp2 others(33): Show |
intron_variant | MODIFIER | c.803+3605C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120082186 | ||||||
| chr2:120082203
|
C | T | 145 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(142): Show | 145 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(142): Show |
intron_variant | MODIFIER | c.803+3622C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120082203 | ||||||
| chr2:120082531
|
C | G | 1 | a0001c0001t0004g0117 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.803+3950C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120082531 | ||||||
| chr2:120082827
|
G | A | 133 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(130): Show | 133 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(130): Show |
intron_variant | MODIFIER | c.803+4246G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120082827 | ||||||
| chr2:120082838
|
G | T | 130 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(127): Show | 130 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(127): Show |
intron_variant | MODIFIER | c.803+4257G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120082838 | ||||||
| chr2:120082872
|
G | T | 3 | a0002c0002t0001g0191a0002c0002t0001g0228a0002c0002t0001g0251 | 3 | HG01952.hp2 HG01975.hp2 HG01981.hp1 |
intron_variant | MODIFIER | c.803+4291G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120082872 | ||||||
| chr2:120082889
|
C | T | 3 | a0002c0002t0001g0156a0002c0002t0001g0221a0002c0002t0001g0222 | 3 | NA18946.hp1 NA19077.hp2 NA19084.hp1 |
intron_variant | MODIFIER | c.804-4282C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120082889 | ||||||
| chr2:120083033
|
T | A | 9 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(6): Show | 9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.804-4138T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120083033 | ||||||
| chr2:120083082
|
G | T | 3 | a0002c0002t0001g0174a0002c0002t0001g0182a0002c0002t0001g0204 | 3 | HG01981.hp2 HG02148.hp1 NA19007.hp1 |
intron_variant | MODIFIER | c.804-4089G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120083082 | ||||||
| chr2:120083202
|
GTCAGTTT others(18): Show |
G | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.804-3966_804-3942d others(27): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | INFO_REALIGN_3_PRIME | chr2 | 120083202 | |||||
| chr2:120083305
|
T | C | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.804-3866T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120083305 | ||||||
| chr2:120083551
|
A | G | 1 | a0002c0002t0001g0223 | 1 | NA19001.hp1 | intron_variant | MODIFIER | c.804-3620A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120083551 | ||||||
| chr2:120083634
|
G | T | 1 | a0002c0002t0001g0205 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.804-3537G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120083634 | ||||||
| chr2:120083867
|
T | A | 130 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(127): Show | 130 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(127): Show |
intron_variant | MODIFIER | c.804-3304T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120083867 | ||||||
| chr2:120083953
|
G | T | 106 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(103): Show | 106 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(103): Show |
intron_variant | MODIFIER | c.804-3218G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120083953 | ||||||
| chr2:120084002
|
G | A | 1 | a0002c0002t0001g0249 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.804-3169G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120084002 | ||||||
| chr2:120084264
|
A | G | 275 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(272): Show | 275 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(272): Show |
intron_variant | MODIFIER | c.804-2907A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120084264 | ||||||
| chr2:120084278
|
G | A | 140 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(137): Show | 140 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(137): Show |
intron_variant | MODIFIER | c.804-2893G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120084278 | ||||||
| chr2:120084424
|
C | A | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.804-2747C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120084424 | ||||||
| chr2:120084557
|
A | G | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.804-2614A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120084557 | ||||||
| chr2:120084567
|
T | C | 1 | a0001c0001t0009g0138 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.804-2604T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120084567 | ||||||
| chr2:120084726
|
A | G | 1 | a0002c0002t0001g0184 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.804-2445A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120084726 | ||||||
| chr2:120084800
|
A | G | 1 | a0001c0001t0002g0020 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.804-2371A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120084800 | ||||||
| chr2:120085109
|
G | A | 140 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(137): Show | 140 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(137): Show |
intron_variant | MODIFIER | c.804-2062G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120085109 | ||||||
| chr2:120085288
|
G | A | 140 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(137): Show | 140 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(137): Show |
intron_variant | MODIFIER | c.804-1883G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120085288 | ||||||
| chr2:120085307
|
A | T | 1 | a0001c0001t0002g0091 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.804-1864A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120085307 | ||||||
| chr2:120085830
|
C | T | 2 | a0001c0001t0004g0107a0001c0001t0004g0108 | 2 | HG00738.hp1 HG00741.hp2 |
intron_variant | MODIFIER | c.804-1341C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120085830 | ||||||
| chr2:120085848
|
A | C | 1 | a0002c0002t0001g0139 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.804-1323A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120085848 | ||||||
| chr2:120085994
|
A | T | 5 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0152others(2): Show | 5 | HG00738.hp1 HG00741.hp2 HG01346.hp1 others(2): Show |
intron_variant | MODIFIER | c.804-1177A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120085994 | ||||||
| chr2:120086305
|
G | A | 1 | a0002c0002t0001g0167 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.804-866G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120086305 | ||||||
| chr2:120086357
|
T | C | 9 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(6): Show | 9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.804-814T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120086357 | ||||||
| chr2:120086393
|
A | G | 20 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(17): Show | 20 | HG00735.hp1 HG01243.hp2 HG02109.hp2 others(17): Show |
intron_variant | MODIFIER | c.804-778A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120086393 | ||||||
| chr2:120086533
|
A | G | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.804-638A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120086533 | ||||||
| chr2:120086690
|
G | A | 140 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(137): Show | 140 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(137): Show |
intron_variant | MODIFIER | c.804-481G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120086690 | ||||||
| chr2:120087080
|
T | C | 1 | a0001c0001t0002g0054 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.804-91T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120087080 | ||||||
| chr2:120087122
|
A | G | 1 | a0001c0001t0005g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.804-49A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 10/24 | chr2 | 120087122 | ||||||
| chr2:120087451
|
T | G | 9 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(6): Show | 9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.873+211T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 11/24 | chr2 | 120087451 | ||||||
| chr2:120087624
|
G | T | 1 | a0001c0001t0002g0100 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.873+384G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 11/24 | chr2 | 120087624 | ||||||
| chr2:120087668
|
T | C | 9 | a0001c0001t0002g0051a0001c0001t0002g0052a0001c0001t0002g0065others(6): Show | 9 | HG02135.hp2 NA18942.hp1 NA18954.hp1 others(6): Show |
intron_variant | MODIFIER | c.873+428T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 11/24 | chr2 | 120087668 | ||||||
| chr2:120087715
|
T | C | 275 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(272): Show | 275 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(272): Show |
intron_variant | MODIFIER | c.873+475T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 11/24 | chr2 | 120087715 | ||||||
| chr2:120087820
|
ATC | A | 107 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(104): Show | 107 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(104): Show |
intron_variant | MODIFIER | c.873+582_873+583del others(2): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 11/24 | INFO_REALIGN_3_PRIME | chr2 | 120087820 | |||||
| chr2:120087863
|
T | G | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.873+623T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 11/24 | chr2 | 120087863 | ||||||
| chr2:120088027
|
A | G | 1 | a0001c0001t0002g0063 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.873+787A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 11/24 | chr2 | 120088027 | ||||||
| chr2:120088048
|
GA | G | 9 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(6): Show | 9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.873+809delA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 11/24 | chr2 | 120088048 | ||||||
| chr2:120088351
|
C | T | 1 | a0001c0001t0002g0009 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.873+1111C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 11/24 | chr2 | 120088351 | ||||||
| chr2:120088665
|
C | G | 2 | a0001c0001t0002g0010a0001c0001t0002g0048 | 2 | NA18948.hp2 NA19062.hp1 |
intron_variant | MODIFIER | c.873+1425C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 11/24 | chr2 | 120088665 | ||||||
| chr2:120088685
|
T | G | 1 | a0001c0001t0002g0064 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.873+1445T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 11/24 | chr2 | 120088685 | ||||||
| chr2:120088724
|
GT | G | 112 | a0002c0002t0001g0139a0002c0002t0001g0140a0002c0002t0001g0141others(109): Show | 112 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(109): Show |
intron_variant | MODIFIER | c.873+1492delT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 11/24 | INFO_REALIGN_3_PRIME | chr2 | 120088724 | |||||
| chr2:120088964
|
TATTA | T | 9 | a0001c0001t0002g0028a0001c0001t0002g0032a0001c0001t0002g0033others(6): Show | 9 | HG00423.hp2 HG00609.hp1 HG02523.hp1 others(6): Show |
intron_variant | MODIFIER | c.874-1379_874-1376d others(6): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 11/24 | INFO_REALIGN_3_PRIME | chr2 | 120088964 | |||||
| chr2:120089256
|
T | A | 141 | a0001c0001t0002g0026a0001c0001t0004g0107a0001c0001t0004g0108others(138): Show | 141 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(138): Show |
intron_variant | MODIFIER | c.874-1091T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 11/24 | chr2 | 120089256 | ||||||
| chr2:120089338
|
C | G | 1 | a0004c0007t0001g0270 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.874-1009C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 11/24 | chr2 | 120089338 | ||||||
| chr2:120089394
|
T | C | 148 | a0001c0001t0002g0026a0001c0001t0004g0107a0001c0001t0004g0108others(145): Show | 148 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(145): Show |
intron_variant | MODIFIER | c.874-953T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 11/24 | chr2 | 120089394 | ||||||
| chr2:120089791
|
T | G | 275 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(272): Show | 275 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(272): Show |
intron_variant | MODIFIER | c.874-556T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 11/24 | chr2 | 120089791 | ||||||
| chr2:120089817
|
T | G | 1 | a0002c0004t0001g0190 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.874-530T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 11/24 | chr2 | 120089817 | ||||||
| chr2:120090066
|
G | A | 34 | a0002c0002t0001g0164a0002c0002t0001g0165a0002c0002t0001g0166others(31): Show | 34 | HG00408.hp1 HG00609.hp2 HG01169.hp2 others(31): Show |
intron_variant | MODIFIER | c.874-281G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 11/24 | chr2 | 120090066 | ||||||
| chr2:120090257
|
T | C | 1 | a0002c0002t0001g0140 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.874-90T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 11/24 | chr2 | 120090257 | ||||||
| chr2:120090881
|
T | C | 1 | a0001c0001t0005g0154 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.1043+365T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 12/24 | chr2 | 120090881 | ||||||
| chr2:120091223
|
A | T | 1 | a0001c0001t0011g0034 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.1044-332A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 12/24 | chr2 | 120091223 | ||||||
| chr2:120091263
|
G | A | 51 | a0002c0002t0001g0139a0002c0002t0001g0147a0002c0002t0001g0149others(48): Show | 51 | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(48): Show |
intron_variant | MODIFIER | c.1044-292G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 12/24 | chr2 | 120091263 | ||||||
| chr2:120091270
|
G | A | 1 | a0002c0002t0001g0249 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.1044-285G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 12/24 | chr2 | 120091270 | ||||||
| chr2:120091308
|
T | C | 9 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(6): Show | 9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.1044-247T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 12/24 | chr2 | 120091308 | ||||||
| chr2:120091442
|
G | A | 1 | a0002c0002t0001g0176 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.1044-113G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 12/24 | chr2 | 120091442 | ||||||
| chr2:120091530
|
C | T | 21 | a0002c0002t0001g0136a0002c0002t0001g0155a0002c0002t0001g0202others(18): Show | 21 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(18): Show |
intron_variant | MODIFIER | c.1044-25C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 12/24 | chr2 | 120091530 | ||||||
| chr2:120091899
|
G | A | 1 | a0002c0002t0001g0173 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.1150+238G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 13/24 | chr2 | 120091899 | ||||||
| chr2:120091969
|
A | G | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1150+308A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 13/24 | chr2 | 120091969 | ||||||
| chr2:120092008
|
T | TTTTA | 13 | a0001c0001t0006g0120a0001c0001t0006g0121a0001c0001t0006g0122others(10): Show | 13 | HG00735.hp1 HG02109.hp1 HG02622.hp1 others(10): Show |
intron_variant | MODIFIER | c.1150+383_1150+386d others(6): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr2 | 120092008 | |||||
| chr2:120092008
|
T | TTTTATTT others(1): Show |
4 | a0001c0001t0004g0113a0001c0001t0004g0118a0001c0001t0016g0119others(1): Show | 4 | HG02109.hp2 HG02615.hp2 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.1150+379_1150+386d others(10): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr2 | 120092008 | |||||
| chr2:120092008
|
T | TTTTATTT others(5): Show |
5 | a0001c0001t0004g0114a0001c0001t0004g0116a0001c0001t0004g0117others(2): Show | 5 | HG01243.hp2 HG02572.hp1 HG02818.hp2 others(2): Show |
intron_variant | MODIFIER | c.1150+375_1150+386d others(14): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr2 | 120092008 | |||||
| chr2:120092008
|
T | TTTTATTT others(9): Show |
1 | a0001c0001t0004g0115 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1150+371_1150+386d others(18): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr2 | 120092008 | |||||
| chr2:120092008
|
TTTTA | T | 241 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(238): Show | 241 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(238): Show |
intron_variant | MODIFIER | c.1150+383_1150+386d others(6): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr2 | 120092008 | |||||
| chr2:120092008
|
TTTTATTT others(9): Show |
T | 1 | a0002c0002t0018g0207 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1150+371_1150+386d others(18): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr2 | 120092008 | |||||
| chr2:120092177
|
C | T | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1150+516C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 13/24 | chr2 | 120092177 | ||||||
| chr2:120092917
|
A | G | 1 | a0002c0002t0001g0172 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.1151-332A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 13/24 | chr2 | 120092917 | ||||||
| chr2:120093010
|
G | A | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1151-239G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 13/24 | chr2 | 120093010 | ||||||
| chr2:120093225
|
G | T | 1 | a0002c0002t0001g0149 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.1151-24G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 13/24 | chr2 | 120093225 | ||||||
| chr2:120093231
|
T | C | 1 | a0001c0001t0002g0063 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.1151-18T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 13/24 | chr2 | 120093231 | ||||||
| chr2:120093434
|
G | T | 275 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(272): Show | 275 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(272): Show |
intron_variant | MODIFIER | c.1178+158G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120093434 | ||||||
| chr2:120093496
|
C | T | 10 | a0001c0001t0006g0120a0001c0001t0006g0121a0001c0001t0006g0122others(7): Show | 10 | HG00735.hp1 HG02630.hp2 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.1178+220C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120093496 | ||||||
| chr2:120093960
|
CTTTTCTT others(4): Show |
C | 9 | a0001c0001t0002g0051a0001c0001t0002g0052a0001c0001t0002g0065others(6): Show | 9 | HG02135.hp2 NA18942.hp1 NA18954.hp1 others(6): Show |
intron_variant | MODIFIER | c.1178+689_1178+699d others(13): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr2 | 120093960 | |||||
| chr2:120093995
|
G | A | 1 | a0002c0002t0001g0273 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.1178+719G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120093995 | ||||||
| chr2:120094061
|
A | G | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1178+785A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120094061 | ||||||
| chr2:120094107
|
C | T | 108 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(105): Show | 108 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(105): Show |
intron_variant | MODIFIER | c.1178+831C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120094107 | ||||||
| chr2:120094342
|
G | A | 1 | a0002c0002t0001g0185 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1178+1066G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120094342 | ||||||
| chr2:120094466
|
G | GT | 9 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(6): Show | 9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.1178+1201dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr2 | 120094466 | |||||
| chr2:120094466
|
GT | G | 107 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(104): Show | 107 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(104): Show |
intron_variant | MODIFIER | c.1178+1201delT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr2 | 120094466 | |||||
| chr2:120094482
|
C | CA | 29 | a0001c0001t0002g0054a0001c0001t0004g0107a0001c0001t0004g0108others(26): Show | 29 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(26): Show |
intron_variant | MODIFIER | c.1178+1217dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr2 | 120094482 | |||||
| chr2:120094908
|
C | G | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1178+1632C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120094908 | ||||||
| chr2:120095109
|
C | T | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1178+1833C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120095109 | ||||||
| chr2:120095176
|
T | C | 2 | a0002c0002t0001g0210a0002c0002t0001g0211 | 2 | HG02486.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.1178+1900T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120095176 | ||||||
| chr2:120095183
|
A | G | 1 | a0001c0001t0002g0033 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.1178+1907A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120095183 | ||||||
| chr2:120095259
|
T | A | 1 | a0001c0001t0002g0090 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1178+1983T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120095259 | ||||||
| chr2:120095553
|
A | AT | 20 | a0002c0002t0001g0136a0002c0002t0001g0155a0002c0002t0001g0202others(17): Show | 20 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(17): Show |
intron_variant | MODIFIER | c.1178+2288dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr2 | 120095553 | |||||
| chr2:120095889
|
C | T | 18 | a0002c0002t0001g0136a0002c0002t0001g0155a0002c0002t0001g0202others(15): Show | 18 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(15): Show |
intron_variant | MODIFIER | c.1178+2613C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120095889 | ||||||
| chr2:120096070
|
G | A | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1178+2794G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120096070 | ||||||
| chr2:120096414
|
T | G | 21 | a0002c0002t0001g0136a0002c0002t0001g0155a0002c0002t0001g0202others(18): Show | 21 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(18): Show |
intron_variant | MODIFIER | c.1178+3138T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120096414 | ||||||
| chr2:120096544
|
C | T | 1 | a0002c0002t0001g0253 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.1178+3268C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120096544 | ||||||
| chr2:120096554
|
C | T | 1 | a0002c0002t0001g0200 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.1178+3278C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120096554 | ||||||
| chr2:120096662
|
C | T | 9 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(6): Show | 9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.1178+3386C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120096662 | ||||||
| chr2:120096708
|
T | G | 1 | a0001c0001t0004g0131 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1178+3432T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120096708 | ||||||
| chr2:120096765
|
G | A | 13 | a0001c0001t0002g0010a0001c0001t0002g0047a0001c0001t0002g0048others(10): Show | 13 | HG02135.hp2 NA18942.hp1 NA18948.hp2 others(10): Show |
intron_variant | MODIFIER | c.1179-3479G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120096765 | ||||||
| chr2:120097016
|
A | G | 1 | a0001c0001t0002g0020 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.1179-3228A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120097016 | ||||||
| chr2:120097531
|
T | C | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1179-2713T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120097531 | ||||||
| chr2:120097616
|
A | G | 2 | a0002c0002t0001g0210a0002c0002t0001g0211 | 2 | HG02486.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.1179-2628A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120097616 | ||||||
| chr2:120097660
|
A | G | 1 | a0002c0002t0001g0199 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.1179-2584A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120097660 | ||||||
| chr2:120097870
|
A | G | 1 | a0002c0002t0001g0214 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.1179-2374A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120097870 | ||||||
| chr2:120097877
|
G | A | 138 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(135): Show | 138 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(135): Show |
intron_variant | MODIFIER | c.1179-2367G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120097877 | ||||||
| chr2:120097986
|
G | A | 138 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(135): Show | 138 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(135): Show |
intron_variant | MODIFIER | c.1179-2258G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120097986 | ||||||
| chr2:120098145
|
A | C | 21 | a0002c0002t0001g0136a0002c0002t0001g0155a0002c0002t0001g0202others(18): Show | 21 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(18): Show |
intron_variant | MODIFIER | c.1179-2099A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120098145 | ||||||
| chr2:120098154
|
T | TTGTGTGT others(3): Show |
1 | a0001c0001t0004g0131 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1179-2089_1179-208 others(14): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr2 | 120098154 | |||||
| chr2:120098156
|
T | G | 1 | a0001c0001t0004g0131 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1179-2088T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120098156 | ||||||
| chr2:120098156
|
T | TGTGTGTG others(8): Show |
1 | a0002c0002t0001g0169 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.1179-2088_1179-208 others(19): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120098156 | ||||||
| chr2:120098156
|
T | TGTGTGTG others(12): Show |
1 | a0002c0002t0001g0263 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.1179-2088_1179-208 others(23): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120098156 | ||||||
| chr2:120098156
|
T | TGTGTGTG others(16): Show |
1 | a0002c0002t0001g0233 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.1179-2088_1179-208 others(27): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120098156 | ||||||
| chr2:120098156
|
T | TTGTGTG | 4 | a0001c0001t0002g0017a0001c0001t0002g0049a0001c0001t0002g0059others(1): Show | 4 | HG02451.hp1 HG02451.hp2 NA18977.hp2 others(1): Show |
intron_variant | MODIFIER | c.1179-2060_1179-205 others(10): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr2 | 120098156 | |||||
| chr2:120098156
|
T | TTGTGTGT others(1): Show |
18 | a0001c0001t0002g0008a0001c0001t0002g0009a0001c0001t0002g0012others(15): Show | 18 | HG00408.hp1 HG00639.hp2 HG01109.hp1 others(15): Show |
intron_variant | MODIFIER | c.1179-2062_1179-205 others(12): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr2 | 120098156 | |||||
| chr2:120098156
|
T | TTGTGTGT others(3): Show |
51 | a0001c0001t0002g0001a0001c0001t0002g0016a0001c0001t0002g0018others(48): Show | 51 | HG00423.hp2 HG00735.hp2 HG01069.hp2 others(48): Show |
intron_variant | MODIFIER | c.1179-2064_1179-205 others(14): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr2 | 120098156 | |||||
| chr2:120098156
|
T | TTGTGTGT others(5): Show |
50 | a0001c0001t0002g0010a0001c0001t0002g0019a0001c0001t0002g0026others(47): Show | 50 | HG00609.hp1 HG00738.hp1 HG00738.hp2 others(47): Show |
intron_variant | MODIFIER | c.1179-2066_1179-205 others(16): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr2 | 120098156 | |||||
| chr2:120098156
|
T | TTGTGTGT others(7): Show |
37 | a0001c0001t0002g0020a0001c0001t0002g0043a0001c0001t0002g0046others(34): Show | 37 | HG00544.hp2 HG00609.hp2 HG01081.hp2 others(34): Show |
intron_variant | MODIFIER | c.1179-2068_1179-205 others(18): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr2 | 120098156 | |||||
| chr2:120098156
|
T | TTGTGTGT others(9): Show |
29 | a0001c0001t0002g0037a0001c0001t0009g0137a0001c0001t0009g0138others(26): Show | 29 | HG00639.hp1 HG00741.hp1 HG01069.hp1 others(26): Show |
intron_variant | MODIFIER | c.1179-2070_1179-205 others(20): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr2 | 120098156 | |||||
| chr2:120098156
|
T | TTGTGTGT others(11): Show |
32 | a0001c0001t0002g0095a0001c0001t0006g0120a0001c0001t0006g0128others(29): Show | 32 | HG00735.hp1 HG01167.hp1 HG01175.hp1 others(29): Show |
intron_variant | MODIFIER | c.1179-2072_1179-205 others(22): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr2 | 120098156 | |||||
| chr2:120098156
|
T | TTGTGTGT others(13): Show |
24 | a0001c0001t0002g0132a0001c0001t0006g0121a0001c0001t0006g0122others(21): Show | 24 | HG00544.hp1 HG02280.hp1 HG02280.hp2 others(21): Show |
intron_variant | MODIFIER | c.1179-2074_1179-205 others(24): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr2 | 120098156 | |||||
| chr2:120098156
|
T | TTGTGTGT others(15): Show |
12 | a0001c0001t0006g0126a0002c0002t0001g0202a0002c0002t0001g0205others(9): Show | 12 | HG02055.hp1 HG02630.hp2 HG03942.hp2 others(9): Show |
intron_variant | MODIFIER | c.1179-2076_1179-205 others(26): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr2 | 120098156 | |||||
| chr2:120098156
|
T | TTGTGTGT others(17): Show |
5 | a0002c0002t0001g0172a0002c0002t0001g0224a0002c0002t0001g0248others(2): Show | 5 | HG00408.hp2 HG00423.hp1 HG01433.hp1 others(2): Show |
intron_variant | MODIFIER | c.1179-2078_1179-205 others(28): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr2 | 120098156 | |||||
| chr2:120098156
|
T | TTGTGTGT others(19): Show |
3 | a0002c0002t0001g0139a0002c0002t0001g0247a0002c0002t0018g0207 | 3 | HG02132.hp1 HG03453.hp1 NA19004.hp1 |
intron_variant | MODIFIER | c.1179-2080_1179-205 others(30): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr2 | 120098156 | |||||
| chr2:120098156
|
T | TTGTGTGT others(21): Show |
2 | a0002c0002t0001g0244a0002c0002t0001g0260 | 2 | NA18968.hp1 NA18977.hp1 |
intron_variant | MODIFIER | c.1179-2082_1179-205 others(32): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr2 | 120098156 | |||||
| chr2:120098156
|
T | TTGTGTGT others(27): Show |
1 | a0002c0002t0001g0211 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1179-2055_1179-205 others(38): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr2 | 120098156 | |||||
| chr2:120098156
|
T | TTGTGTGT others(31): Show |
1 | a0002c0002t0001g0210 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.1179-2055_1179-205 others(42): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr2 | 120098156 | |||||
| chr2:120098189
|
T | TGTGTGTG others(18): Show |
1 | a0002c0002t0001g0229 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.1179-2055_1179-205 others(29): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120098189 | ||||||
| chr2:120098364
|
C | T | 124 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(121): Show | 124 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(121): Show |
intron_variant | MODIFIER | c.1179-1880C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120098364 | ||||||
| chr2:120099125
|
G | A | 138 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(135): Show | 138 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(135): Show |
intron_variant | MODIFIER | c.1179-1119G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120099125 | ||||||
| chr2:120099159
|
A | G | 4 | a0001c0001t0002g0022a0001c0001t0002g0023a0001c0001t0002g0024others(1): Show | 4 | HG01069.hp2 HG01071.hp1 HG01943.hp2 others(1): Show |
intron_variant | MODIFIER | c.1179-1085A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120099159 | ||||||
| chr2:120099341
|
TG | T | 109 | a0002c0002t0001g0139a0002c0002t0001g0140a0002c0002t0001g0141others(106): Show | 109 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(106): Show |
intron_variant | MODIFIER | c.1179-900delG | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr2 | 120099341 | |||||
| chr2:120099343
|
G | GT | 3 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0006g0128 | 3 | HG00738.hp1 HG00741.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.1179-901_1179-900i others(3): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120099343 | ||||||
| chr2:120099343
|
G | GTT | 5 | a0001c0001t0005g0150a0001c0001t0005g0151a0001c0001t0005g0152others(2): Show | 5 | HG01070.hp2 HG01071.hp2 HG01346.hp1 others(2): Show |
intron_variant | MODIFIER | c.1179-901_1179-900i others(4): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120099343 | ||||||
| chr2:120099344
|
G | T | 166 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(163): Show | 166 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(163): Show |
intron_variant | MODIFIER | c.1179-900G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120099344 | ||||||
| chr2:120099434
|
T | A | 1 | a0002c0002t0001g0251 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.1179-810T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120099434 | ||||||
| chr2:120099618
|
A | G | 1 | a0001c0001t0003g0082 | 1 | NA18965.hp2 | intron_variant | MODIFIER | c.1179-626A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120099618 | ||||||
| chr2:120099917
|
G | A | 8 | a0002c0002t0001g0136a0002c0002t0001g0155a0002c0002t0001g0206others(5): Show | 8 | HG01884.hp2 HG02257.hp2 HG02615.hp1 others(5): Show |
intron_variant | MODIFIER | c.1179-327G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120099917 | ||||||
| chr2:120099929
|
G | A | 3 | a0002c0002t0001g0210a0002c0002t0001g0211a0002c0002t0018g0207 | 3 | HG02486.hp2 HG03453.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1179-315G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120099929 | ||||||
| chr2:120100224
|
A | T | 1 | a0002c0002t0001g0229 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.1179-20A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | 120100224 | ||||||
| chr2:120100477
|
C | T | 2 | a0002c0002t0001g0226a0002c0002t0001g0227 | 2 | NA18972.hp2 NA18991.hp2 |
intron_variant | MODIFIER | c.1221+191C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 15/24 | chr2 | 120100477 | ||||||
| chr2:120100568
|
G | A | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.1222-131G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 15/24 | chr2 | 120100568 | ||||||
| chr2:120100872
|
C | G | 1 | a0001c0001t0002g0091 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1337+58C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120100872 | ||||||
| chr2:120101194
|
CACA | C | 11 | a0001c0001t0006g0120a0001c0001t0006g0121a0001c0001t0006g0122others(8): Show | 11 | HG00735.hp1 HG02615.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.1337+384_1337+386d others(5): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr2 | 120101194 | |||||
| chr2:120101198
|
A | G | 130 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(127): Show | 130 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(127): Show |
intron_variant | MODIFIER | c.1337+384A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120101198 | ||||||
| chr2:120101219
|
G | A | 3 | a0002c0002t0001g0210a0002c0002t0001g0211a0002c0002t0018g0207 | 3 | HG02486.hp2 HG03453.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1337+405G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120101219 | ||||||
| chr2:120101889
|
A | G | 3 | a0002c0002t0001g0210a0002c0002t0001g0211a0002c0002t0018g0207 | 3 | HG02486.hp2 HG03453.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1337+1075A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120101889 | ||||||
| chr2:120102156
|
T | G | 1 | a0002c0002t0001g0167 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.1337+1342T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120102156 | ||||||
| chr2:120102180
|
A | G | 1 | a0002c0002t0001g0226 | 1 | NA18991.hp2 | intron_variant | MODIFIER | c.1337+1366A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120102180 | ||||||
| chr2:120102181
|
C | T | 1 | a0002c0002t0001g0192 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.1337+1367C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120102181 | ||||||
| chr2:120102289
|
C | T | 1 | a0002c0002t0020g0112 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1337+1475C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120102289 | ||||||
| chr2:120102437
|
G | A | 1 | a0002c0002t0001g0261 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.1337+1623G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120102437 | ||||||
| chr2:120102489
|
G | A | 1 | a0002c0002t0018g0207 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1337+1675G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120102489 | ||||||
| chr2:120102591
|
G | C | 1 | a0002c0002t0001g0273 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.1337+1777G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120102591 | ||||||
| chr2:120102628
|
G | A | 2 | a0001c0001t0006g0126a0001c0001t0006g0127 | 2 | HG02630.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.1337+1814G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120102628 | ||||||
| chr2:120102830
|
C | T | 3 | a0002c0002t0001g0191a0002c0002t0001g0228a0002c0002t0001g0251 | 3 | HG01952.hp2 HG01975.hp2 HG01981.hp1 |
intron_variant | MODIFIER | c.1337+2016C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120102830 | ||||||
| chr2:120103450
|
T | C | 1 | a0006c0006t0014g0111 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.1337+2636T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120103450 | ||||||
| chr2:120103463
|
G | A | 15 | a0001c0001t0002g0008a0001c0001t0002g0009a0001c0001t0002g0012others(12): Show | 15 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(12): Show |
intron_variant | MODIFIER | c.1337+2649G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120103463 | ||||||
| chr2:120103506
|
T | C | 132 | a0001c0001t0009g0137a0001c0001t0009g0138a0002c0002t0001g0136others(129): Show | 132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.1337+2692T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120103506 | ||||||
| chr2:120103518
|
T | C | 1 | a0001c0001t0002g0040 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.1337+2704T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120103518 | ||||||
| chr2:120103698
|
G | A | 1 | a0001c0001t0003g0082 | 1 | NA18965.hp2 | intron_variant | MODIFIER | c.1337+2884G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120103698 | ||||||
| chr2:120103819
|
G | A | 2 | a0001c0001t0002g0098a0001c0001t0002g0099 | 2 | HG01167.hp2 HG01169.hp1 |
intron_variant | MODIFIER | c.1337+3005G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120103819 | ||||||
| chr2:120103900
|
T | C | 1 | a0002c0002t0001g0219 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1337+3086T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120103900 | ||||||
| chr2:120104122
|
C | A | 9 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(6): Show | 9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.1337+3308C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120104122 | ||||||
| chr2:120104268
|
C | G | 21 | a0002c0002t0001g0136a0002c0002t0001g0155a0002c0002t0001g0202others(18): Show | 21 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(18): Show |
intron_variant | MODIFIER | c.1337+3454C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120104268 | ||||||
| chr2:120104519
|
T | C | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.1337+3705T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120104519 | ||||||
| chr2:120104849
|
G | A | 1 | a0001c0001t0002g0053 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1337+4035G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120104849 | ||||||
| chr2:120104877
|
G | T | 132 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(129): Show | 132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.1337+4063G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120104877 | ||||||
| chr2:120105493
|
A | G | 131 | a0001c0001t0006g0120a0002c0002t0001g0136a0002c0002t0001g0139others(128): Show | 131 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(128): Show |
intron_variant | MODIFIER | c.1337+4679A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120105493 | ||||||
| chr2:120105607
|
A | G | 1 | a0001c0001t0002g0132 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1337+4793A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120105607 | ||||||
| chr2:120105694
|
C | T | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1337+4880C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120105694 | ||||||
| chr2:120105737
|
C | A | 9 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(6): Show | 9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.1337+4923C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120105737 | ||||||
| chr2:120106015
|
C | G | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1337+5201C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120106015 | ||||||
| chr2:120106050
|
T | C | 132 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(129): Show | 132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.1337+5236T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120106050 | ||||||
| chr2:120106085
|
G | T | 1 | a0002c0002t0001g0201 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.1337+5271G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120106085 | ||||||
| chr2:120106121
|
T | C | 3 | a0001c0001t0009g0137a0001c0001t0009g0138a0002c0002t0018g0207 | 3 | HG02109.hp1 HG02622.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1337+5307T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120106121 | ||||||
| chr2:120106192
|
T | C | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.1337+5378T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120106192 | ||||||
| chr2:120106221
|
T | C | 1 | a0002c0002t0001g0220 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.1337+5407T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120106221 | ||||||
| chr2:120106270
|
G | A | 1 | a0001c0001t0002g0132 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1337+5456G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120106270 | ||||||
| chr2:120106300
|
C | T | 1 | a0001c0001t0002g0091 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1337+5486C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120106300 | ||||||
| chr2:120106751
|
C | T | 10 | a0001c0001t0006g0120a0001c0001t0006g0121a0001c0001t0006g0122others(7): Show | 10 | HG00735.hp1 HG02630.hp2 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.1337+5937C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120106751 | ||||||
| chr2:120106834
|
A | G | 10 | a0001c0001t0006g0120a0001c0001t0006g0121a0001c0001t0006g0122others(7): Show | 10 | HG00735.hp1 HG02630.hp2 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.1337+6020A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120106834 | ||||||
| chr2:120106948
|
A | G | 1 | a0002c0002t0001g0149 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.1337+6134A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120106948 | ||||||
| chr2:120107187
|
T | G | 135 | a0001c0001t0009g0137a0001c0001t0009g0138a0002c0002t0001g0136others(132): Show | 135 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(132): Show |
intron_variant | MODIFIER | c.1337+6373T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120107187 | ||||||
| chr2:120107736
|
A | G | 1 | a0001c0001t0002g0095 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.1337+6922A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120107736 | ||||||
| chr2:120107849
|
A | G | 2 | a0001c0001t0002g0010a0001c0001t0002g0048 | 2 | NA18948.hp2 NA19062.hp1 |
intron_variant | MODIFIER | c.1337+7035A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120107849 | ||||||
| chr2:120107971
|
ATGAG | A | 3 | a0001c0001t0002g0051a0001c0001t0002g0065a0001c0001t0002g0066 | 3 | HG02135.hp2 NA18993.hp2 NA19088.hp1 |
intron_variant | MODIFIER | c.1337+7161_1337+716 others(8): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr2 | 120107971 | |||||
| chr2:120108216
|
A | G | 1 | a0002c0002t0001g0275 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.1337+7402A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120108216 | ||||||
| chr2:120109003
|
G | A | 1 | a0002c0002t0001g0204 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.1337+8189G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120109003 | ||||||
| chr2:120109013
|
A | T | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.1337+8199A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120109013 | ||||||
| chr2:120109017
|
G | A | 112 | a0002c0002t0001g0139a0002c0002t0001g0140a0002c0002t0001g0141others(109): Show | 112 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(109): Show |
intron_variant | MODIFIER | c.1337+8203G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120109017 | ||||||
| chr2:120109201
|
C | A | 133 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(130): Show | 133 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(130): Show |
intron_variant | MODIFIER | c.1337+8387C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120109201 | ||||||
| chr2:120109221
|
A | C | 4 | a0002c0002t0001g0225a0002c0002t0001g0263a0002c0002t0001g0272others(1): Show | 4 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(1): Show |
intron_variant | MODIFIER | c.1337+8407A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120109221 | ||||||
| chr2:120109628
|
C | T | 4 | a0002c0002t0001g0202a0002c0002t0001g0214a0002c0002t0001g0215others(1): Show | 4 | HG02055.hp1 HG02280.hp2 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.1337+8814C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120109628 | ||||||
| chr2:120109647
|
G | A | 1 | a0002c0002t0001g0272 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.1337+8833G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120109647 | ||||||
| chr2:120109677
|
C | G | 21 | a0002c0002t0001g0136a0002c0002t0001g0155a0002c0002t0001g0202others(18): Show | 21 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(18): Show |
intron_variant | MODIFIER | c.1337+8863C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120109677 | ||||||
| chr2:120109864
|
C | T | 2 | a0001c0001t0006g0126a0001c0001t0006g0127 | 2 | HG02630.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.1337+9050C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120109864 | ||||||
| chr2:120109895
|
G | A | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1337+9081G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120109895 | ||||||
| chr2:120109909
|
C | T | 1 | a0002c0002t0001g0144 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1337+9095C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120109909 | ||||||
| chr2:120110131
|
A | G | 1 | a0002c0002t0001g0202 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.1337+9317A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120110131 | ||||||
| chr2:120110508
|
C | T | 28 | a0002c0002t0001g0164a0002c0002t0001g0165a0002c0002t0001g0166others(25): Show | 28 | HG00408.hp1 HG00609.hp2 HG01169.hp2 others(25): Show |
intron_variant | MODIFIER | c.1337+9694C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120110508 | ||||||
| chr2:120110635
|
A | AT | 32 | a0001c0001t0002g0031a0001c0001t0002g0095a0001c0001t0002g0097others(29): Show | 32 | HG00735.hp1 HG00738.hp1 HG00741.hp2 others(29): Show |
intron_variant | MODIFIER | c.1337+9840dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr2 | 120110635 | |||||
| chr2:120110635
|
A | T | 3 | a0001c0001t0005g0003a0001c0001t0005g0005a0001c0001t0005g0006 | 3 | HG02922.hp1 HG03453.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.1337+9821A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120110635 | ||||||
| chr2:120110836
|
A | G | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1337+10022A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120110836 | ||||||
| chr2:120110874
|
G | T | 2 | a0001c0001t0002g0052a0001c0001t0002g0100 | 2 | NA18942.hp1 NA18954.hp1 |
intron_variant | MODIFIER | c.1337+10060G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120110874 | ||||||
| chr2:120111555
|
C | T | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1337+10741C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120111555 | ||||||
| chr2:120111689
|
C | T | 133 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(130): Show | 133 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(130): Show |
intron_variant | MODIFIER | c.1337+10875C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120111689 | ||||||
| chr2:120111736
|
G | T | 4 | a0002c0002t0001g0240a0002c0002t0001g0241a0002c0002t0001g0242others(1): Show | 4 | NA18947.hp2 NA18957.hp2 NA18995.hp2 others(1): Show |
intron_variant | MODIFIER | c.1337+10922G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120111736 | ||||||
| chr2:120111873
|
A | G | 133 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(130): Show | 133 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(130): Show |
intron_variant | MODIFIER | c.1337+11059A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120111873 | ||||||
| chr2:120111973
|
T | C | 1 | a0002c0002t0001g0146 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1337+11159T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120111973 | ||||||
| chr2:120112009
|
C | T | 2 | a0001c0001t0002g0026a0001c0001t0002g0027 | 2 | HG00738.hp2 HG01358.hp1 |
intron_variant | MODIFIER | c.1337+11195C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120112009 | ||||||
| chr2:120112088
|
T | G | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1337+11274T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120112088 | ||||||
| chr2:120112256
|
A | G | 11 | a0001c0001t0006g0120a0001c0001t0006g0121a0001c0001t0006g0122others(8): Show | 11 | HG00735.hp1 HG02615.hp2 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.1337+11442A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120112256 | ||||||
| chr2:120112300
|
C | T | 145 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(142): Show | 145 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(142): Show |
intron_variant | MODIFIER | c.1337+11486C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120112300 | ||||||
| chr2:120112470
|
T | C | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1337+11656T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120112470 | ||||||
| chr2:120112472
|
T | C | 1 | a0002c0002t0001g0230 | 1 | NA19080.hp2 | intron_variant | MODIFIER | c.1337+11658T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120112472 | ||||||
| chr2:120112553
|
T | C | 10 | a0002c0002t0001g0164a0002c0002t0001g0169a0002c0002t0001g0174others(7): Show | 10 | HG01981.hp2 HG02129.hp1 HG02135.hp1 others(7): Show |
intron_variant | MODIFIER | c.1337+11739T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120112553 | ||||||
| chr2:120112559
|
T | A | 1 | a0001c0001t0004g0118 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.1337+11745T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120112559 | ||||||
| chr2:120112633
|
G | A | 1 | a0001c0001t0002g0043 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1337+11819G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120112633 | ||||||
| chr2:120112678
|
G | A | 1 | a0001c0001t0002g0037 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.1337+11864G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120112678 | ||||||
| chr2:120112856
|
A | G | 1 | a0002c0002t0001g0145 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.1337+12042A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120112856 | ||||||
| chr2:120112939
|
C | G | 1 | a0002c0002t0001g0159 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1337+12125C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120112939 | ||||||
| chr2:120113034
|
G | T | 10 | a0001c0001t0006g0120a0001c0001t0006g0121a0001c0001t0006g0122others(7): Show | 10 | HG00735.hp1 HG02630.hp2 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.1337+12220G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120113034 | ||||||
| chr2:120113162
|
G | T | 1 | a0002c0002t0001g0216 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1337+12348G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120113162 | ||||||
| chr2:120113362
|
T | G | 277 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(274): Show | 277 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(274): Show |
intron_variant | MODIFIER | c.1337+12548T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120113362 | ||||||
| chr2:120113616
|
G | A | 275 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(272): Show | 275 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(272): Show |
intron_variant | MODIFIER | c.1337+12802G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120113616 | ||||||
| chr2:120113706
|
A | C | 133 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(130): Show | 133 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(130): Show |
intron_variant | MODIFIER | c.1337+12892A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120113706 | ||||||
| chr2:120113852
|
A | G | 1 | a0002c0002t0001g0183 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.1337+13038A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120113852 | ||||||
| chr2:120113857
|
T | C | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1337+13043T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120113857 | ||||||
| chr2:120113874
|
T | C | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1337+13060T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120113874 | ||||||
| chr2:120113937
|
T | G | 2 | a0001c0001t0002g0098a0001c0001t0002g0099 | 2 | HG01167.hp2 HG01169.hp1 |
intron_variant | MODIFIER | c.1337+13123T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120113937 | ||||||
| chr2:120114074
|
T | C | 2 | a0001c0001t0003g0070a0001c0001t0003g0084 | 2 | HG02132.hp2 NA18991.hp1 |
intron_variant | MODIFIER | c.1337+13260T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120114074 | ||||||
| chr2:120114144
|
C | CT | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1337+13336dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr2 | 120114144 | |||||
| chr2:120114202
|
G | A | 130 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(127): Show | 130 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(127): Show |
intron_variant | MODIFIER | c.1337+13388G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120114202 | ||||||
| chr2:120114374
|
A | G | 2 | a0001c0001t0002g0021a0001c0001t0002g0101 | 2 | HG01516.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.1338-13314A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120114374 | ||||||
| chr2:120114453
|
T | C | 1 | a0001c0001t0002g0017 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.1338-13235T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120114453 | ||||||
| chr2:120114479
|
T | C | 2 | a0002c0002t0001g0191a0002c0002t0001g0228 | 2 | HG01952.hp2 HG01981.hp1 |
intron_variant | MODIFIER | c.1338-13209T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120114479 | ||||||
| chr2:120114566
|
G | A | 1 | a0002c0002t0001g0232 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.1338-13122G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120114566 | ||||||
| chr2:120114693
|
A | G | 1 | a0002c0002t0001g0170 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1338-12995A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120114693 | ||||||
| chr2:120114772
|
G | C | 10 | a0001c0001t0006g0120a0001c0001t0006g0121a0001c0001t0006g0122others(7): Show | 10 | HG00735.hp1 HG02630.hp2 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.1338-12916G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120114772 | ||||||
| chr2:120115001
|
A | G | 1 | a0001c0001t0002g0054 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.1338-12687A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120115001 | ||||||
| chr2:120115084
|
C | T | 1 | a0001c0001t0002g0095 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.1338-12604C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120115084 | ||||||
| chr2:120115441
|
G | C | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1338-12247G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120115441 | ||||||
| chr2:120115489
|
C | T | 1 | a0002c0002t0001g0173 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.1338-12199C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120115489 | ||||||
| chr2:120115707
|
T | C | 1 | a0001c0001t0002g0020 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.1338-11981T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120115707 | ||||||
| chr2:120115912
|
C | T | 4 | a0001c0001t0002g0010a0001c0001t0002g0047a0001c0001t0002g0048others(1): Show | 4 | NA18948.hp2 NA18995.hp1 NA19060.hp1 others(1): Show |
intron_variant | MODIFIER | c.1338-11776C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120115912 | ||||||
| chr2:120116169
|
A | T | 7 | a0002c0002t0001g0140a0002c0002t0001g0141a0002c0002t0001g0143others(4): Show | 7 | HG00735.hp2 HG00741.hp1 HG01109.hp2 others(4): Show |
intron_variant | MODIFIER | c.1338-11519A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120116169 | ||||||
| chr2:120116341
|
A | G | 1 | a0002c0002t0001g0253 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.1338-11347A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120116341 | ||||||
| chr2:120116528
|
G | A | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1338-11160G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120116528 | ||||||
| chr2:120116528
|
G | T | 2 | a0002c0002t0001g0210a0002c0002t0001g0211 | 2 | HG02486.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.1338-11160G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120116528 | ||||||
| chr2:120116541
|
A | C | 1 | a0002c0002t0001g0184 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.1338-11147A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120116541 | ||||||
| chr2:120116763
|
A | G | 1 | a0002c0002t0001g0241 | 1 | NA18957.hp2 | intron_variant | MODIFIER | c.1338-10925A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120116763 | ||||||
| chr2:120116794
|
T | C | 4 | a0001c0001t0002g0029a0001c0001t0002g0030a0001c0001t0002g0031others(1): Show | 4 | NA18946.hp2 NA18999.hp2 NA19080.hp1 others(1): Show |
intron_variant | MODIFIER | c.1338-10894T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120116794 | ||||||
| chr2:120116853
|
A | G | 241 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(238): Show | 241 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(238): Show |
intron_variant | MODIFIER | c.1338-10835A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120116853 | ||||||
| chr2:120116872
|
G | A | 1 | a0001c0001t0015g0274 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1338-10816G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120116872 | ||||||
| chr2:120116935
|
C | T | 133 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(130): Show | 133 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(130): Show |
intron_variant | MODIFIER | c.1338-10753C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120116935 | ||||||
| chr2:120117206
|
T | A | 1 | a0002c0002t0001g0193 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1338-10482T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120117206 | ||||||
| chr2:120117280
|
C | G | 1 | a0001c0001t0002g0276 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1338-10408C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120117280 | ||||||
| chr2:120117371
|
A | G | 1 | a0002c0002t0001g0146 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1338-10317A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120117371 | ||||||
| chr2:120117511
|
C | T | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1338-10177C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120117511 | ||||||
| chr2:120117624
|
G | A | 1 | a0002c0002t0001g0205 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.1338-10064G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120117624 | ||||||
| chr2:120117652
|
C | G | 133 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(130): Show | 133 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(130): Show |
intron_variant | MODIFIER | c.1338-10036C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120117652 | ||||||
| chr2:120117757
|
C | T | 1 | a0001c0001t0002g0001 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1338-9931C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120117757 | ||||||
| chr2:120117796
|
A | C | 133 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(130): Show | 133 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(130): Show |
intron_variant | MODIFIER | c.1338-9892A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120117796 | ||||||
| chr2:120117892
|
T | C | 3 | a0002c0002t0001g0174a0002c0002t0001g0182a0002c0002t0001g0204 | 3 | HG01981.hp2 HG02148.hp1 NA19007.hp1 |
intron_variant | MODIFIER | c.1338-9796T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120117892 | ||||||
| chr2:120118003
|
G | A | 275 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(272): Show | 275 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(272): Show |
intron_variant | MODIFIER | c.1338-9685G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120118003 | ||||||
| chr2:120118013
|
A | G | 1 | a0002c0002t0001g0166 | 1 | HG01517.hp1 | intron_variant | MODIFIER | c.1338-9675A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120118013 | ||||||
| chr2:120118155
|
T | A | 9 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(6): Show | 9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.1338-9533T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120118155 | ||||||
| chr2:120118375
|
C | G | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1338-9313C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120118375 | ||||||
| chr2:120118540
|
T | G | 2 | a0002c0002t0001g0210a0002c0002t0001g0211 | 2 | HG02486.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.1338-9148T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120118540 | ||||||
| chr2:120118695
|
G | A | 1 | a0002c0002t0001g0168 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.1338-8993G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120118695 | ||||||
| chr2:120118728
|
C | T | 133 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(130): Show | 133 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(130): Show |
intron_variant | MODIFIER | c.1338-8960C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120118728 | ||||||
| chr2:120119016
|
A | G | 1 | a0002c0002t0001g0171 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1338-8672A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120119016 | ||||||
| chr2:120119120
|
C | T | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1338-8568C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120119120 | ||||||
| chr2:120119171
|
A | C | 1 | a0002c0002t0001g0195 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.1338-8517A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120119171 | ||||||
| chr2:120119590
|
A | T | 9 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(6): Show | 9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.1338-8098A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120119590 | ||||||
| chr2:120119633
|
C | CT | 108 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(105): Show | 108 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(105): Show |
intron_variant | MODIFIER | c.1338-8046dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr2 | 120119633 | |||||
| chr2:120119715
|
A | G | 1 | a0001c0001t0002g0065 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.1338-7973A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120119715 | ||||||
| chr2:120119720
|
A | AAAAC | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.1338-7966_1338-796 others(8): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr2 | 120119720 | |||||
| chr2:120119815
|
G | A | 1 | a0001c0001t0007g0079 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.1338-7873G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120119815 | ||||||
| chr2:120119829
|
C | T | 3 | a0002c0002t0001g0210a0002c0002t0001g0211a0002c0002t0018g0207 | 3 | HG02486.hp2 HG03453.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1338-7859C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120119829 | ||||||
| chr2:120119850
|
G | A | 1 | a0001c0001t0004g0131 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1338-7838G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120119850 | ||||||
| chr2:120119929
|
A | G | 1 | a0002c0002t0001g0158 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.1338-7759A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120119929 | ||||||
| chr2:120119996
|
C | T | 2 | a0001c0001t0006g0126a0001c0001t0006g0127 | 2 | HG02630.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.1338-7692C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120119996 | ||||||
| chr2:120119999
|
T | C | 51 | a0001c0001t0002g0017a0001c0001t0002g0018a0001c0001t0002g0021others(48): Show | 51 | HG00423.hp2 HG00609.hp1 HG01069.hp2 others(48): Show |
intron_variant | MODIFIER | c.1338-7689T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120119999 | ||||||
| chr2:120120030
|
T | G | 1 | a0001c0001t0002g0056 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.1338-7658T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120120030 | ||||||
| chr2:120120057
|
T | C | 9 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(6): Show | 9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.1338-7631T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120120057 | ||||||
| chr2:120120121
|
G | A | 4 | a0001c0001t0002g0061a0001c0001t0002g0062a0001c0001t0002g0102others(1): Show | 4 | HG01192.hp1 HG02257.hp1 HG02647.hp2 others(1): Show |
intron_variant | MODIFIER | c.1338-7567G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120120121 | ||||||
| chr2:120120417
|
G | A | 1 | a0002c0002t0001g0184 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.1338-7271G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120120417 | ||||||
| chr2:120120431
|
C | CA | 152 | a0001c0001t0002g0026a0001c0001t0002g0056a0001c0001t0002g0064others(149): Show | 152 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(149): Show |
intron_variant | MODIFIER | c.1338-7239dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr2 | 120120431 | |||||
| chr2:120120596
|
T | A | 140 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(137): Show | 140 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(137): Show |
intron_variant | MODIFIER | c.1338-7092T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120120596 | ||||||
| chr2:120120779
|
A | G | 1 | a0002c0002t0001g0149 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.1338-6909A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120120779 | ||||||
| chr2:120120782
|
G | C | 1 | a0002c0002t0001g0201 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.1338-6906G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120120782 | ||||||
| chr2:120120853
|
C | T | 275 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(272): Show | 275 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(272): Show |
intron_variant | MODIFIER | c.1338-6835C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120120853 | ||||||
| chr2:120120986
|
C | T | 1 | a0002c0002t0001g0201 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.1338-6702C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120120986 | ||||||
| chr2:120121068
|
G | GATT | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.1338-6619_1338-661 others(7): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr2 | 120121068 | |||||
| chr2:120121148
|
A | G | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1338-6540A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120121148 | ||||||
| chr2:120121401
|
C | T | 1 | a0001c0001t0002g0019 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1338-6287C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120121401 | ||||||
| chr2:120121559
|
C | T | 8 | a0001c0001t0006g0120a0001c0001t0006g0121a0001c0001t0006g0122others(5): Show | 8 | HG00735.hp1 HG02896.hp1 HG02897.hp1 others(5): Show |
intron_variant | MODIFIER | c.1338-6129C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120121559 | ||||||
| chr2:120121578
|
C | T | 1 | a0001c0001t0017g0007 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1338-6110C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120121578 | ||||||
| chr2:120121653
|
A | G | 6 | a0002c0002t0001g0136a0002c0002t0001g0206a0002c0002t0001g0213others(3): Show | 6 | HG01884.hp2 HG02615.hp1 HG02818.hp1 others(3): Show |
intron_variant | MODIFIER | c.1338-6035A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120121653 | ||||||
| chr2:120121687
|
A | C | 3 | a0002c0002t0001g0174a0002c0002t0001g0182a0002c0002t0001g0204 | 3 | HG01981.hp2 HG02148.hp1 NA19007.hp1 |
intron_variant | MODIFIER | c.1338-6001A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120121687 | ||||||
| chr2:120121699
|
T | G | 2 | a0001c0001t0002g0050a0001c0001t0002g0063 | 2 | HG02155.hp1 HG03834.hp2 |
intron_variant | MODIFIER | c.1338-5989T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120121699 | ||||||
| chr2:120121838
|
C | G | 1 | a0001c0001t0017g0007 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1338-5850C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120121838 | ||||||
| chr2:120122008
|
C | T | 1 | a0002c0002t0001g0258 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.1338-5680C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120122008 | ||||||
| chr2:120122048
|
T | G | 2 | a0002c0002t0001g0210a0002c0002t0001g0211 | 2 | HG02486.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.1338-5640T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120122048 | ||||||
| chr2:120122270
|
T | G | 2 | a0002c0002t0001g0226a0002c0002t0001g0227 | 2 | NA18972.hp2 NA18991.hp2 |
intron_variant | MODIFIER | c.1338-5418T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120122270 | ||||||
| chr2:120122364
|
G | A | 1 | a0001c0001t0011g0034 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.1338-5324G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120122364 | ||||||
| chr2:120122529
|
A | G | 1 | a0002c0002t0001g0171 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1338-5159A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120122529 | ||||||
| chr2:120122652
|
A | G | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1338-5036A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120122652 | ||||||
| chr2:120122656
|
T | C | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1338-5032T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120122656 | ||||||
| chr2:120122685
|
T | C | 1 | a0002c0002t0001g0224 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1338-5003T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120122685 | ||||||
| chr2:120122738
|
C | T | 113 | a0001c0001t0003g0096a0002c0002t0001g0139a0002c0002t0001g0140others(110): Show | 113 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(110): Show |
intron_variant | MODIFIER | c.1338-4950C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120122738 | ||||||
| chr2:120122749
|
C | G | 1 | a0001c0001t0002g0037 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.1338-4939C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120122749 | ||||||
| chr2:120122929
|
G | A | 1 | a0002c0002t0001g0252 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.1338-4759G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120122929 | ||||||
| chr2:120122931
|
G | T | 106 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(103): Show | 106 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(103): Show |
intron_variant | MODIFIER | c.1338-4757G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120122931 | ||||||
| chr2:120123110
|
A | C | 1 | a0001c0001t0006g0126 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1338-4578A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120123110 | ||||||
| chr2:120123150
|
G | GT | 13 | a0001c0001t0006g0120a0001c0001t0006g0121a0001c0001t0006g0122others(10): Show | 13 | HG00735.hp1 HG01516.hp1 HG02486.hp2 others(10): Show |
intron_variant | MODIFIER | c.1338-4529dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr2 | 120123150 | |||||
| chr2:120123249
|
G | A | 1 | a0001c0001t0002g0063 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.1338-4439G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120123249 | ||||||
| chr2:120123360
|
G | A | 1 | a0002c0002t0001g0144 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1338-4328G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120123360 | ||||||
| chr2:120123405
|
G | GT | 275 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(272): Show | 275 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(272): Show |
intron_variant | MODIFIER | c.1338-4279dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr2 | 120123405 | |||||
| chr2:120123576
|
A | C | 1 | a0002c0002t0001g0245 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.1338-4112A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120123576 | ||||||
| chr2:120123646
|
C | CT | 112 | a0001c0001t0002g0001a0001c0001t0002g0010a0001c0001t0002g0017others(109): Show | 112 | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(109): Show |
intron_variant | MODIFIER | c.1338-4014dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr2 | 120123646 | |||||
| chr2:120123646
|
C | CTT | 70 | a0001c0001t0002g0008a0001c0001t0002g0009a0001c0001t0002g0016others(67): Show | 70 | HG00639.hp2 HG00738.hp1 HG00741.hp2 others(67): Show |
intron_variant | MODIFIER | c.1338-4015_1338-401 others(6): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr2 | 120123646 | |||||
| chr2:120123646
|
C | CTTT | 11 | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0002g0014others(8): Show | 11 | HG00423.hp2 HG00609.hp1 HG01891.hp1 others(8): Show |
intron_variant | MODIFIER | c.1338-4016_1338-401 others(7): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr2 | 120123646 | |||||
| chr2:120123646
|
CT | C | 5 | a0001c0001t0005g0002a0001c0001t0005g0004a0001c0001t0005g0006others(2): Show | 5 | HG01243.hp1 HG02486.hp1 HG02559.hp2 others(2): Show |
intron_variant | MODIFIER | c.1338-4014delT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr2 | 120123646 | |||||
| chr2:120123646
|
CTTTTTTT others(2): Show |
C | 9 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(6): Show | 9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.1338-4022_1338-401 others(13): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr2 | 120123646 | |||||
| chr2:120123646
|
CTTTTTTT others(4): Show |
C | 1 | a0001c0001t0002g0050 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.1338-4024_1338-401 others(15): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr2 | 120123646 | |||||
| chr2:120123722
|
A | G | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1338-3966A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120123722 | ||||||
| chr2:120124137
|
G | C | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1338-3551G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120124137 | ||||||
| chr2:120124144
|
A | C | 1 | a0002c0002t0001g0140 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.1338-3544A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120124144 | ||||||
| chr2:120124707
|
C | T | 1 | a0002c0002t0001g0181 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.1338-2981C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120124707 | ||||||
| chr2:120124751
|
T | C | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1338-2937T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120124751 | ||||||
| chr2:120125065
|
ACTTGATA others(3): Show |
A | 1 | a0002c0002t0001g0179 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.1338-2622_1338-261 others(14): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120125065 | ||||||
| chr2:120125701
|
G | A | 2 | a0002c0002t0001g0140a0002c0002t0001g0143 | 2 | HG01109.hp2 HG01175.hp2 |
intron_variant | MODIFIER | c.1338-1987G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120125701 | ||||||
| chr2:120125737
|
G | A | 1 | a0002c0002t0001g0158 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.1338-1951G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120125737 | ||||||
| chr2:120125807
|
G | A | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1338-1881G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120125807 | ||||||
| chr2:120126223
|
A | G | 1 | a0002c0002t0001g0266 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.1338-1465A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120126223 | ||||||
| chr2:120126295
|
C | T | 4 | a0002c0002t0001g0140a0002c0002t0001g0141a0002c0002t0001g0143others(1): Show | 4 | HG00735.hp2 HG01109.hp2 HG01175.hp2 others(1): Show |
intron_variant | MODIFIER | c.1338-1393C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120126295 | ||||||
| chr2:120126928
|
C | T | 1 | a0002c0002t0001g0245 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.1338-760C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120126928 | ||||||
| chr2:120127074
|
T | C | 108 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(105): Show | 108 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(105): Show |
intron_variant | MODIFIER | c.1338-614T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120127074 | ||||||
| chr2:120127152
|
T | C | 1 | a0001c0001t0002g0095 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.1338-536T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120127152 | ||||||
| chr2:120127390
|
C | T | 4 | a0001c0001t0002g0059a0001c0001t0002g0060a0001c0001t0002g0109others(1): Show | 4 | HG02451.hp2 HG02572.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.1338-298C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120127390 | ||||||
| chr2:120127681
|
A | G | 1 | a0001c0001t0004g0113 | 1 | HG03516.hp1 | splice_region_variant&intron_variant | LOW | c.1338-7A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 16/24 | chr2 | 120127681 | ||||||
| chr2:120127867
|
A | G | 1 | a0002c0002t0025g0142 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1501+16A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120127867 | ||||||
| chr2:120128003
|
A | C | 4 | a0001c0001t0002g0029a0001c0001t0002g0030a0001c0001t0002g0031others(1): Show | 4 | NA18946.hp2 NA18999.hp2 NA19080.hp1 others(1): Show |
intron_variant | MODIFIER | c.1501+152A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120128003 | ||||||
| chr2:120128004
|
G | C | 4 | a0001c0001t0002g0029a0001c0001t0002g0030a0001c0001t0002g0031others(1): Show | 4 | NA18946.hp2 NA18999.hp2 NA19080.hp1 others(1): Show |
intron_variant | MODIFIER | c.1501+153G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120128004 | ||||||
| chr2:120128005
|
G | T | 4 | a0001c0001t0002g0029a0001c0001t0002g0030a0001c0001t0002g0031others(1): Show | 4 | NA18946.hp2 NA18999.hp2 NA19080.hp1 others(1): Show |
intron_variant | MODIFIER | c.1501+154G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120128005 | ||||||
| chr2:120128111
|
T | C | 1 | a0002c0002t0001g0158 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.1501+260T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120128111 | ||||||
| chr2:120128256
|
A | AAC | 67 | a0001c0001t0002g0008a0001c0001t0002g0019a0001c0001t0002g0020others(64): Show | 67 | HG00408.hp1 HG00544.hp2 HG00639.hp2 others(64): Show |
intron_variant | MODIFIER | c.1501+439_1501+440d others(4): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr2 | 120128256 | |||||
| chr2:120128256
|
A | AACAC | 8 | a0002c0002t0001g0164a0002c0002t0001g0165a0002c0002t0001g0179others(5): Show | 8 | HG00609.hp2 HG01169.hp2 HG02129.hp1 others(5): Show |
intron_variant | MODIFIER | c.1501+437_1501+440d others(6): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr2 | 120128256 | |||||
| chr2:120128256
|
A | AACACACA others(1): Show |
4 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0154others(1): Show | 4 | HG00738.hp1 HG00741.hp2 HG01346.hp1 others(1): Show |
intron_variant | MODIFIER | c.1501+433_1501+440d others(10): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr2 | 120128256 | |||||
| chr2:120128256
|
A | AACACACA others(3): Show |
9 | a0001c0001t0005g0002a0001c0001t0005g0150a0001c0001t0005g0151others(6): Show | 9 | HG01070.hp2 HG01071.hp2 HG01943.hp1 others(6): Show |
intron_variant | MODIFIER | c.1501+431_1501+440d others(12): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr2 | 120128256 | |||||
| chr2:120128256
|
A | AACACACA others(5): Show |
36 | a0002c0002t0001g0139a0002c0002t0001g0167a0002c0002t0001g0191others(33): Show | 36 | HG00423.hp1 HG01257.hp2 HG01346.hp2 others(33): Show |
intron_variant | MODIFIER | c.1501+429_1501+440d others(14): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr2 | 120128256 | |||||
| chr2:120128256
|
A | AACACACA others(7): Show |
11 | a0001c0001t0004g0131a0002c0002t0001g0147a0002c0002t0001g0149others(8): Show | 11 | HG00408.hp2 HG00544.hp1 HG01167.hp1 others(8): Show |
intron_variant | MODIFIER | c.1501+427_1501+440d others(16): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr2 | 120128256 | |||||
| chr2:120128256
|
A | AACACACA others(11): Show |
13 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(10): Show | 13 | HG01243.hp2 HG01433.hp1 HG01516.hp1 others(10): Show |
intron_variant | MODIFIER | c.1501+423_1501+440d others(20): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr2 | 120128256 | |||||
| chr2:120128256
|
A | AACACACA others(13): Show |
3 | a0001c0001t0006g0120a0001c0001t0006g0126a0001c0001t0006g0128 | 3 | HG00735.hp1 HG02630.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.1501+421_1501+440d others(22): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr2 | 120128256 | |||||
| chr2:120128256
|
A | AACACACA others(15): Show |
4 | a0001c0001t0005g0006a0001c0001t0006g0129a0001c0001t0012g0124others(1): Show | 4 | HG02976.hp2 HG03225.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.1501+419_1501+440d others(24): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr2 | 120128256 | |||||
| chr2:120128256
|
A | AACACACA others(17): Show |
5 | a0001c0001t0005g0003a0001c0001t0005g0004a0001c0001t0005g0005others(2): Show | 5 | HG02486.hp1 HG02647.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1501+417_1501+440d others(26): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr2 | 120128256 | |||||
| chr2:120128292
|
T | C | 5 | a0002c0002t0001g0233a0002c0002t0001g0240a0002c0002t0001g0241others(2): Show | 5 | NA18947.hp2 NA18957.hp2 NA18995.hp2 others(2): Show |
intron_variant | MODIFIER | c.1501+441T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120128292 | ||||||
| chr2:120128473
|
T | C | 1 | a0001c0001t0015g0274 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1501+622T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120128473 | ||||||
| chr2:120128527
|
A | G | 1 | a0001c0001t0002g0276 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1501+676A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120128527 | ||||||
| chr2:120128708
|
G | GT | 10 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(7): Show | 10 | HG01069.hp1 HG02109.hp1 HG02486.hp1 others(7): Show |
intron_variant | MODIFIER | c.1501+871dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr2 | 120128708 | |||||
| chr2:120128823
|
GGTA | G | 52 | a0002c0002t0001g0139a0002c0002t0001g0147a0002c0002t0001g0149others(49): Show | 52 | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(49): Show |
intron_variant | MODIFIER | c.1501+978_1501+980d others(5): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr2 | 120128823 | |||||
| chr2:120129039
|
A | G | 1 | a0001c0001t0002g0095 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.1501+1188A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120129039 | ||||||
| chr2:120129097
|
A | G | 10 | a0001c0001t0006g0120a0001c0001t0006g0121a0001c0001t0006g0122others(7): Show | 10 | HG00735.hp1 HG02630.hp2 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.1501+1246A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120129097 | ||||||
| chr2:120129335
|
C | CA | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.1501+1495dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr2 | 120129335 | |||||
| chr2:120129343
|
A | AAAAG | 124 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(121): Show | 124 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(121): Show |
intron_variant | MODIFIER | c.1501+1508_1501+151 others(8): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr2 | 120129343 | |||||
| chr2:120129417
|
A | G | 1 | a0001c0001t0002g0066 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.1501+1566A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120129417 | ||||||
| chr2:120129459
|
A | C | 1 | a0002c0002t0001g0258 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.1501+1608A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120129459 | ||||||
| chr2:120129845
|
A | G | 1 | a0002c0002t0001g0209 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.1502-1773A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120129845 | ||||||
| chr2:120129884
|
G | A | 1 | a0002c0002t0001g0253 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.1502-1734G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120129884 | ||||||
| chr2:120129928
|
C | G | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1502-1690C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120129928 | ||||||
| chr2:120129944
|
G | A | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.1502-1674G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120129944 | ||||||
| chr2:120130036
|
C | T | 1 | a0002c0002t0018g0207 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1502-1582C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120130036 | ||||||
| chr2:120130143
|
C | CA | 125 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(122): Show | 125 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(122): Show |
intron_variant | MODIFIER | c.1502-1457dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr2 | 120130143 | |||||
| chr2:120130143
|
C | CAA | 6 | a0002c0002t0001g0149a0002c0002t0001g0191a0002c0002t0001g0219others(3): Show | 6 | HG00544.hp1 HG01952.hp2 HG03209.hp2 others(3): Show |
intron_variant | MODIFIER | c.1502-1458_1502-145 others(6): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr2 | 120130143 | |||||
| chr2:120130229
|
GT | G | 108 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(105): Show | 108 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(105): Show |
intron_variant | MODIFIER | c.1502-1387delT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr2 | 120130229 | |||||
| chr2:120130268
|
G | A | 145 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(142): Show | 145 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(142): Show |
intron_variant | MODIFIER | c.1502-1350G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120130268 | ||||||
| chr2:120130384
|
G | A | 9 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(6): Show | 9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.1502-1234G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120130384 | ||||||
| chr2:120130405
|
G | A | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1502-1213G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120130405 | ||||||
| chr2:120130493
|
A | G | 1 | a0002c0002t0018g0207 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1502-1125A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120130493 | ||||||
| chr2:120130497
|
T | C | 1 | a0001c0001t0017g0007 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1502-1121T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120130497 | ||||||
| chr2:120130628
|
G | A | 112 | a0002c0002t0001g0139a0002c0002t0001g0140a0002c0002t0001g0141others(109): Show | 112 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(109): Show |
intron_variant | MODIFIER | c.1502-990G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120130628 | ||||||
| chr2:120130946
|
C | G | 4 | a0002c0002t0001g0250a0002c0002t0001g0255a0002c0002t0001g0256others(1): Show | 4 | HG00423.hp1 NA18943.hp2 NA18983.hp1 others(1): Show |
intron_variant | MODIFIER | c.1502-672C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120130946 | ||||||
| chr2:120131113
|
G | A | 9 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(6): Show | 9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.1502-505G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120131113 | ||||||
| chr2:120131131
|
A | G | 133 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(130): Show | 133 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(130): Show |
intron_variant | MODIFIER | c.1502-487A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120131131 | ||||||
| chr2:120131193
|
T | C | 106 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(103): Show | 106 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(103): Show |
intron_variant | MODIFIER | c.1502-425T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120131193 | ||||||
| chr2:120131318
|
G | A | 275 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(272): Show | 275 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(272): Show |
intron_variant | MODIFIER | c.1502-300G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120131318 | ||||||
| chr2:120131597
|
G | C | 133 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(130): Show | 133 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(130): Show |
intron_variant | MODIFIER | c.1502-21G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | chr2 | 120131597 | ||||||
| chr2:120131599
|
C | CT | 15 | a0001c0001t0002g0008a0001c0001t0002g0009a0001c0001t0002g0012others(12): Show | 15 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(12): Show |
splice_region_variant&intron_variant | LOW | c.1502-9dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr2 | 120131599 | |||||
| chr2:120131908
|
C | T | 1 | a0001c0001t0004g0116 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1599+193C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120131908 | ||||||
| chr2:120131938
|
T | TA | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.1599+234dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | INFO_REALIGN_3_PRIME | chr2 | 120131938 | |||||
| chr2:120131950
|
C | T | 1 | a0001c0001t0002g0043 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1599+235C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120131950 | ||||||
| chr2:120132365
|
T | C | 2 | a0002c0002t0001g0226a0002c0002t0001g0227 | 2 | NA18972.hp2 NA18991.hp2 |
intron_variant | MODIFIER | c.1599+650T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120132365 | ||||||
| chr2:120132652
|
C | T | 132 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(129): Show | 132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.1599+937C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120132652 | ||||||
| chr2:120132865
|
G | C | 1 | a0001c0001t0002g0009 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.1599+1150G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120132865 | ||||||
| chr2:120132880
|
G | T | 106 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(103): Show | 106 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(103): Show |
intron_variant | MODIFIER | c.1599+1165G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120132880 | ||||||
| chr2:120132912
|
T | C | 1 | a0001c0001t0002g0043 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1599+1197T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120132912 | ||||||
| chr2:120133073
|
A | C | 1 | a0002c0002t0001g0164 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.1599+1358A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120133073 | ||||||
| chr2:120133111
|
A | G | 167 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0004g0113others(164): Show | 167 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(164): Show |
intron_variant | MODIFIER | c.1599+1396A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120133111 | ||||||
| chr2:120133344
|
G | A | 2 | a0001c0001t0002g0088a0001c0001t0002g0090 | 2 | HG02451.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.1599+1629G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120133344 | ||||||
| chr2:120133355
|
A | G | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1599+1640A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120133355 | ||||||
| chr2:120133402
|
A | G | 2 | a0002c0002t0010g0157a0002c0002t0010g0160 | 2 | HG02280.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.1599+1687A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120133402 | ||||||
| chr2:120133427
|
A | C | 1 | a0001c0001t0016g0119 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1599+1712A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120133427 | ||||||
| chr2:120133500
|
C | G | 133 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(130): Show | 133 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(130): Show |
intron_variant | MODIFIER | c.1599+1785C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120133500 | ||||||
| chr2:120133535
|
G | A | 112 | a0002c0002t0001g0139a0002c0002t0001g0140a0002c0002t0001g0141others(109): Show | 112 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(109): Show |
intron_variant | MODIFIER | c.1599+1820G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120133535 | ||||||
| chr2:120133574
|
C | T | 1 | a0002c0002t0001g0245 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.1599+1859C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120133574 | ||||||
| chr2:120133628
|
G | A | 1 | a0002c0002t0001g0225 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.1599+1913G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120133628 | ||||||
| chr2:120133741
|
C | A | 6 | a0002c0002t0001g0140a0002c0002t0001g0141a0002c0002t0001g0143others(3): Show | 6 | HG00735.hp2 HG01109.hp2 HG01175.hp2 others(3): Show |
intron_variant | MODIFIER | c.1599+2026C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120133741 | ||||||
| chr2:120134006
|
G | A | 1 | a0002c0002t0001g0187 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1599+2291G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120134006 | ||||||
| chr2:120134271
|
A | G | 2 | a0001c0001t0002g0277a0001c0001t0002g0278 | 2 | NA18967.hp2 NA18968.hp2 |
intron_variant | MODIFIER | c.1599+2556A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120134271 | ||||||
| chr2:120134303
|
C | G | 133 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(130): Show | 133 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(130): Show |
intron_variant | MODIFIER | c.1599+2588C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120134303 | ||||||
| chr2:120134352
|
G | A | 1 | a0001c0001t0002g0020 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.1599+2637G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120134352 | ||||||
| chr2:120134393
|
C | T | 108 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(105): Show | 108 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(105): Show |
intron_variant | MODIFIER | c.1599+2678C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120134393 | ||||||
| chr2:120134564
|
C | T | 18 | a0002c0002t0001g0136a0002c0002t0001g0155a0002c0002t0001g0202others(15): Show | 18 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(15): Show |
intron_variant | MODIFIER | c.1599+2849C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120134564 | ||||||
| chr2:120134959
|
C | T | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1599+3244C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120134959 | ||||||
| chr2:120135124
|
A | T | 3 | a0002c0002t0001g0180a0002c0002t0019g0203a0002c0002t0022g0178 | 3 | HG00609.hp2 NA18998.hp2 NA19000.hp1 |
intron_variant | MODIFIER | c.1599+3409A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120135124 | ||||||
| chr2:120135407
|
C | G | 133 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(130): Show | 133 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(130): Show |
intron_variant | MODIFIER | c.1599+3692C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120135407 | ||||||
| chr2:120135575
|
T | C | 2 | a0001c0001t0006g0121a0001c0001t0006g0122 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1599+3860T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120135575 | ||||||
| chr2:120135600
|
G | A | 1 | a0002c0002t0001g0258 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.1599+3885G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120135600 | ||||||
| chr2:120135610
|
A | G | 1 | a0002c0002t0001g0180 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.1599+3895A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120135610 | ||||||
| chr2:120135697
|
A | G | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.1599+3982A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120135697 | ||||||
| chr2:120135844
|
G | A | 1 | a0002c0002t0001g0219 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1599+4129G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120135844 | ||||||
| chr2:120136152
|
A | ATT | 14 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(11): Show | 14 | HG02486.hp1 HG02559.hp2 HG02630.hp2 others(11): Show |
intron_variant | MODIFIER | c.1599+4452_1599+445 others(6): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | INFO_REALIGN_3_PRIME | chr2 | 120136152 | |||||
| chr2:120136152
|
AT | A | 11 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(8): Show | 11 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(8): Show |
intron_variant | MODIFIER | c.1599+4453delT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | INFO_REALIGN_3_PRIME | chr2 | 120136152 | |||||
| chr2:120136779
|
C | T | 2 | a0002c0002t0001g0164a0002c0002t0001g0273 | 2 | HG02129.hp1 HG02135.hp1 |
intron_variant | MODIFIER | c.1599+5064C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120136779 | ||||||
| chr2:120136931
|
G | C | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1599+5216G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120136931 | ||||||
| chr2:120137116
|
A | G | 133 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(130): Show | 133 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(130): Show |
intron_variant | MODIFIER | c.1599+5401A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120137116 | ||||||
| chr2:120137698
|
G | A | 3 | a0002c0002t0001g0191a0002c0002t0001g0228a0002c0002t0001g0251 | 3 | HG01952.hp2 HG01975.hp2 HG01981.hp1 |
intron_variant | MODIFIER | c.1600-5305G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120137698 | ||||||
| chr2:120137770
|
A | C | 8 | a0002c0002t0001g0136a0002c0002t0001g0155a0002c0002t0001g0206others(5): Show | 8 | HG01884.hp2 HG02257.hp2 HG02615.hp1 others(5): Show |
intron_variant | MODIFIER | c.1600-5233A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120137770 | ||||||
| chr2:120138097
|
G | A | 1 | a0002c0002t0001g0149 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.1600-4906G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120138097 | ||||||
| chr2:120138783
|
A | G | 1 | a0001c0001t0005g0004 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.1600-4220A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120138783 | ||||||
| chr2:120138864
|
A | G | 1 | a0002c0002t0001g0245 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.1600-4139A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120138864 | ||||||
| chr2:120138910
|
T | G | 1 | a0001c0001t0002g0046 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.1600-4093T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120138910 | ||||||
| chr2:120138983
|
C | T | 1 | a0001c0001t0015g0274 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1600-4020C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120138983 | ||||||
| chr2:120139106
|
T | C | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.1600-3897T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120139106 | ||||||
| chr2:120139152
|
C | T | 1 | a0002c0002t0018g0207 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1600-3851C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120139152 | ||||||
| chr2:120139361
|
A | G | 1 | a0002c0002t0021g0161 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.1600-3642A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120139361 | ||||||
| chr2:120139379
|
G | A | 1 | a0001c0001t0002g0026 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.1600-3624G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120139379 | ||||||
| chr2:120139689
|
C | T | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1600-3314C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120139689 | ||||||
| chr2:120140123
|
G | A | 1 | a0002c0002t0001g0179 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.1600-2880G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120140123 | ||||||
| chr2:120140170
|
G | A | 1 | a0001c0001t0002g0095 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.1600-2833G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120140170 | ||||||
| chr2:120140495
|
A | G | 1 | a0002c0002t0001g0162 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.1600-2508A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120140495 | ||||||
| chr2:120140507
|
G | C | 147 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(144): Show | 147 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(144): Show |
intron_variant | MODIFIER | c.1600-2496G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120140507 | ||||||
| chr2:120140609
|
A | G | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1600-2394A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120140609 | ||||||
| chr2:120140720
|
A | G | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.1600-2283A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120140720 | ||||||
| chr2:120140748
|
G | A | 2 | a0002c0002t0010g0157a0002c0002t0010g0160 | 2 | HG02280.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.1600-2255G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120140748 | ||||||
| chr2:120141258
|
T | G | 21 | a0002c0002t0001g0136a0002c0002t0001g0155a0002c0002t0001g0202others(18): Show | 21 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(18): Show |
intron_variant | MODIFIER | c.1600-1745T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120141258 | ||||||
| chr2:120141402
|
A | G | 2 | a0002c0002t0001g0208a0002c0002t0001g0209 | 2 | HG01243.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.1600-1601A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120141402 | ||||||
| chr2:120141428
|
CAG | C | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.1600-1573_1600-157 others(6): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | INFO_REALIGN_3_PRIME | chr2 | 120141428 | |||||
| chr2:120141458
|
A | T | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1600-1545A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120141458 | ||||||
| chr2:120141549
|
C | A | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1600-1454C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120141549 | ||||||
| chr2:120141879
|
C | T | 1 | a0001c0001t0017g0007 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1600-1124C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120141879 | ||||||
| chr2:120141995
|
G | A | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1600-1008G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120141995 | ||||||
| chr2:120142023
|
A | C | 2 | a0001c0001t0002g0014a0001c0001t0002g0015 | 2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.1600-980A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120142023 | ||||||
| chr2:120142065
|
C | G | 21 | a0002c0002t0001g0136a0002c0002t0001g0155a0002c0002t0001g0202others(18): Show | 21 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(18): Show |
intron_variant | MODIFIER | c.1600-938C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120142065 | ||||||
| chr2:120142107
|
C | CT | 16 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(13): Show | 16 | HG00735.hp1 HG01243.hp2 HG02109.hp2 others(13): Show |
intron_variant | MODIFIER | c.1600-890dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | INFO_REALIGN_3_PRIME | chr2 | 120142107 | |||||
| chr2:120142113
|
TA | T | 9 | a0001c0001t0002g0023a0001c0001t0002g0039a0001c0001t0002g0041others(6): Show | 9 | HG01081.hp1 HG01169.hp1 HG01517.hp2 others(6): Show |
intron_variant | MODIFIER | c.1600-869delA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | INFO_REALIGN_3_PRIME | chr2 | 120142113 | |||||
| chr2:120142113
|
TAA | T | 26 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(23): Show | 26 | HG01081.hp2 HG01257.hp1 HG01261.hp1 others(23): Show |
intron_variant | MODIFIER | c.1600-870_1600-869d others(4): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | INFO_REALIGN_3_PRIME | chr2 | 120142113 | |||||
| chr2:120142113
|
TAAA | T | 110 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0151others(107): Show | 110 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(107): Show |
intron_variant | MODIFIER | c.1600-871_1600-869d others(5): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | INFO_REALIGN_3_PRIME | chr2 | 120142113 | |||||
| chr2:120142113
|
TAAAA | T | 9 | a0001c0001t0005g0150a0001c0001t0005g0152a0002c0002t0001g0147others(6): Show | 9 | HG01070.hp2 HG01243.hp1 HG01496.hp2 others(6): Show |
intron_variant | MODIFIER | c.1600-872_1600-869d others(6): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | INFO_REALIGN_3_PRIME | chr2 | 120142113 | |||||
| chr2:120142114
|
A | T | 115 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(112): Show | 115 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(112): Show |
intron_variant | MODIFIER | c.1600-889A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120142114 | ||||||
| chr2:120142115
|
A | T | 22 | a0001c0001t0002g0023a0001c0001t0002g0039a0001c0001t0002g0041others(19): Show | 22 | HG01081.hp1 HG01169.hp1 HG01243.hp2 others(19): Show |
intron_variant | MODIFIER | c.1600-888A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120142115 | ||||||
| chr2:120142116
|
A | T | 26 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(23): Show | 26 | HG01081.hp2 HG01257.hp1 HG01261.hp1 others(23): Show |
intron_variant | MODIFIER | c.1600-887A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120142116 | ||||||
| chr2:120142117
|
A | T | 136 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(133): Show | 136 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(133): Show |
intron_variant | MODIFIER | c.1600-886A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120142117 | ||||||
| chr2:120142118
|
A | T | 138 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(135): Show | 138 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(135): Show |
intron_variant | MODIFIER | c.1600-885A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120142118 | ||||||
| chr2:120142119
|
A | T | 120 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(117): Show | 120 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(117): Show |
intron_variant | MODIFIER | c.1600-884A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120142119 | ||||||
| chr2:120142120
|
A | T | 7 | a0001c0001t0005g0150a0001c0001t0005g0152a0002c0002t0001g0147others(4): Show | 7 | HG01070.hp2 HG01243.hp1 HG01496.hp2 others(4): Show |
intron_variant | MODIFIER | c.1600-883A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120142120 | ||||||
| chr2:120142346
|
A | G | 1 | a0001c0001t0002g0052 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.1600-657A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120142346 | ||||||
| chr2:120142636
|
C | G | 275 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(272): Show | 275 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(272): Show |
intron_variant | MODIFIER | c.1600-367C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120142636 | ||||||
| chr2:120142829
|
G | A | 112 | a0002c0002t0001g0139a0002c0002t0001g0140a0002c0002t0001g0141others(109): Show | 112 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(109): Show |
intron_variant | MODIFIER | c.1600-174G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 18/24 | chr2 | 120142829 | ||||||
| chr2:120143160
|
T | C | 106 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(103): Show | 106 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(103): Show |
intron_variant | MODIFIER | c.1728+29T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | chr2 | 120143160 | ||||||
| chr2:120143553
|
C | T | 1 | a0002c0002t0001g0192 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.1728+422C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | chr2 | 120143553 | ||||||
| chr2:120143974
|
C | G | 134 | a0001c0001t0002g0048a0002c0002t0001g0136a0002c0002t0001g0139others(131): Show | 134 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(131): Show |
intron_variant | MODIFIER | c.1728+843C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | chr2 | 120143974 | ||||||
| chr2:120144121
|
C | A | 8 | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0002g0014others(5): Show | 8 | HG01109.hp1 HG01891.hp1 HG02451.hp1 others(5): Show |
intron_variant | MODIFIER | c.1728+990C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | chr2 | 120144121 | ||||||
| chr2:120144225
|
A | G | 4 | a0002c0002t0001g0240a0002c0002t0001g0241a0002c0002t0001g0242others(1): Show | 4 | NA18947.hp2 NA18957.hp2 NA18995.hp2 others(1): Show |
intron_variant | MODIFIER | c.1728+1094A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | chr2 | 120144225 | ||||||
| chr2:120144623
|
G | A | 1 | a0002c0002t0001g0188 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.1728+1492G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | chr2 | 120144623 | ||||||
| chr2:120144685
|
A | G | 1 | a0001c0001t0011g0034 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.1729-1540A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | chr2 | 120144685 | ||||||
| chr2:120144901
|
T | C | 1 | a0002c0002t0001g0146 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1729-1324T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | chr2 | 120144901 | ||||||
| chr2:120144975
|
A | G | 20 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(17): Show | 20 | HG00735.hp1 HG01243.hp2 HG02109.hp2 others(17): Show |
intron_variant | MODIFIER | c.1729-1250A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | chr2 | 120144975 | ||||||
| chr2:120145371
|
G | A | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1729-854G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | chr2 | 120145371 | ||||||
| chr2:120145418
|
G | A | 3 | a0001c0001t0005g0003a0001c0001t0005g0005a0001c0001t0005g0006 | 3 | HG02922.hp1 HG03453.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.1729-807G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | chr2 | 120145418 | ||||||
| chr2:120145459
|
A | G | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1729-766A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | chr2 | 120145459 | ||||||
| chr2:120145555
|
G | A | 2 | a0001c0001t0003g0078a0001c0001t0003g0083 | 2 | NA18947.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.1729-670G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | chr2 | 120145555 | ||||||
| chr2:120145574
|
A | G | 3 | a0002c0002t0001g0255a0002c0002t0001g0256a0002c0002t0001g0257 | 3 | HG00423.hp1 NA18943.hp2 NA19062.hp2 |
intron_variant | MODIFIER | c.1729-651A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | chr2 | 120145574 | ||||||
| chr2:120145591
|
T | C | 111 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(108): Show | 111 | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(108): Show |
intron_variant | MODIFIER | c.1729-634T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | chr2 | 120145591 | ||||||
| chr2:120145602
|
C | G | 144 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(141): Show | 144 | HG00423.hp1 HG00423.hp2 HG00544.hp2 others(141): Show |
intron_variant | MODIFIER | c.1729-623C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | chr2 | 120145602 | ||||||
| chr2:120145628
|
A | G | 137 | a0001c0001t0002g0022a0001c0001t0002g0023a0001c0001t0002g0024others(134): Show | 137 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(134): Show |
intron_variant | MODIFIER | c.1729-597A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | chr2 | 120145628 | ||||||
| chr2:120145806
|
TGTG | T | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1729-414_1729-412d others(5): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | INFO_REALIGN_3_PRIME | chr2 | 120145806 | |||||
| chr2:120145877
|
C | T | 1 | a0002c0002t0001g0228 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.1729-348C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | chr2 | 120145877 | ||||||
| chr2:120145897
|
G | A | 1 | a0002c0002t0001g0159 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1729-328G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | chr2 | 120145897 | ||||||
| chr2:120145941
|
A | G | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1729-284A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | chr2 | 120145941 | ||||||
| chr2:120145945
|
CA | C | 267 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(264): Show | 267 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(264): Show |
intron_variant | MODIFIER | c.1729-270delA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | INFO_REALIGN_3_PRIME | chr2 | 120145945 | |||||
| chr2:120146014
|
A | C | 20 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(17): Show | 20 | HG00735.hp1 HG01243.hp2 HG02109.hp2 others(17): Show |
intron_variant | MODIFIER | c.1729-211A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 19/24 | chr2 | 120146014 | ||||||
| chr2:120146328
|
A | T | 1 | a0001c0001t0002g0058 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.1793+39A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120146328 | ||||||
| chr2:120147163
|
G | C | 139 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(136): Show | 139 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(136): Show |
intron_variant | MODIFIER | c.1793+874G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120147163 | ||||||
| chr2:120147223
|
G | A | 1 | a0001c0001t0003g0081 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1793+934G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120147223 | ||||||
| chr2:120147360
|
G | T | 1 | a0002c0002t0020g0112 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1793+1071G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120147360 | ||||||
| chr2:120147397
|
C | T | 1 | a0002c0002t0001g0216 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1793+1108C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120147397 | ||||||
| chr2:120147624
|
C | CA | 18 | a0001c0001t0004g0107a0002c0002t0001g0140a0002c0002t0001g0156others(15): Show | 18 | HG00639.hp1 HG00738.hp1 HG00741.hp1 others(15): Show |
intron_variant | MODIFIER | c.1793+1357dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | 120147624 | |||||
| chr2:120147624
|
CA | C | 102 | a0001c0001t0002g0001a0001c0001t0002g0012a0001c0001t0002g0013others(99): Show | 102 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(99): Show |
intron_variant | MODIFIER | c.1793+1357delA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | 120147624 | |||||
| chr2:120147624
|
CAAAAAAA others(3): Show |
C | 1 | a0002c0002t0001g0211 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1793+1348_1793+135 others(14): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | 120147624 | |||||
| chr2:120147770
|
A | G | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.1793+1481A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120147770 | ||||||
| chr2:120147986
|
A | C | 108 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(105): Show | 108 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(105): Show |
intron_variant | MODIFIER | c.1793+1697A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120147986 | ||||||
| chr2:120148086
|
G | A | 1 | a0001c0001t0004g0117 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1793+1797G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120148086 | ||||||
| chr2:120148410
|
A | G | 2 | a0002c0002t0001g0139a0002c0002t0001g0247 | 2 | HG02132.hp1 NA19004.hp1 |
intron_variant | MODIFIER | c.1793+2121A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120148410 | ||||||
| chr2:120148499
|
C | T | 1 | a0002c0002t0001g0164 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.1793+2210C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120148499 | ||||||
| chr2:120148514
|
C | A | 2 | a0002c0002t0001g0187a0002c0002t0001g0188 | 2 | HG03195.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.1793+2225C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120148514 | ||||||
| chr2:120148812
|
G | A | 3 | a0001c0001t0009g0137a0001c0001t0009g0138a0002c0002t0001g0273 | 3 | HG02109.hp1 HG02135.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1793+2523G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120148812 | ||||||
| chr2:120148830
|
A | T | 1 | a0002c0002t0024g0186 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1793+2541A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120148830 | ||||||
| chr2:120148959
|
G | GT | 133 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(130): Show | 133 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(130): Show |
intron_variant | MODIFIER | c.1793+2671dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | 120148959 | |||||
| chr2:120149417
|
T | C | 275 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(272): Show | 275 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(272): Show |
intron_variant | MODIFIER | c.1793+3128T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120149417 | ||||||
| chr2:120149426
|
A | G | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1793+3137A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120149426 | ||||||
| chr2:120149437
|
C | G | 10 | a0001c0001t0006g0120a0001c0001t0006g0121a0001c0001t0006g0122others(7): Show | 10 | HG00735.hp1 HG02630.hp2 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.1793+3148C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120149437 | ||||||
| chr2:120149703
|
A | G | 2 | a0001c0001t0002g0021a0001c0001t0002g0101 | 2 | HG01516.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.1793+3414A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120149703 | ||||||
| chr2:120149746
|
A | G | 1 | a0002c0002t0001g0159 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1793+3457A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120149746 | ||||||
| chr2:120149763
|
C | T | 1 | a0002c0002t0001g0254 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.1793+3474C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120149763 | ||||||
| chr2:120149764
|
G | A | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1793+3475G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120149764 | ||||||
| chr2:120149798
|
A | C | 7 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(4): Show | 7 | HG02109.hp1 HG02486.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.1793+3509A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120149798 | ||||||
| chr2:120149892
|
C | CT | 50 | a0001c0001t0009g0137a0001c0001t0009g0138a0002c0002t0001g0139others(47): Show | 50 | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(47): Show |
intron_variant | MODIFIER | c.1793+3623dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | 120149892 | |||||
| chr2:120149892
|
C | CTT | 6 | a0001c0001t0005g0003a0001c0001t0005g0005a0001c0001t0005g0006others(3): Show | 6 | HG01346.hp2 HG02922.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.1793+3622_1793+362 others(6): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | 120149892 | |||||
| chr2:120149892
|
CT | C | 110 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0009others(107): Show | 110 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(107): Show |
intron_variant | MODIFIER | c.1793+3623delT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | 120149892 | |||||
| chr2:120149996
|
G | A | 2 | a0002c0002t0001g0210a0002c0002t0001g0211 | 2 | HG02486.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.1793+3707G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120149996 | ||||||
| chr2:120150048
|
A | G | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1793+3759A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120150048 | ||||||
| chr2:120150256
|
T | C | 1 | a0002c0002t0001g0221 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.1793+3967T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120150256 | ||||||
| chr2:120150259
|
T | G | 1 | a0001c0001t0003g0085 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.1793+3970T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120150259 | ||||||
| chr2:120150386
|
A | G | 1 | a0002c0002t0001g0262 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.1793+4097A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120150386 | ||||||
| chr2:120150490
|
T | C | 1 | a0002c0002t0001g0253 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.1793+4201T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120150490 | ||||||
| chr2:120150555
|
T | G | 1 | a0001c0001t0002g0094 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.1793+4266T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120150555 | ||||||
| chr2:120150599
|
T | C | 1 | a0001c0001t0002g0062 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.1793+4310T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120150599 | ||||||
| chr2:120150661
|
CT | C | 6 | a0001c0001t0002g0031a0001c0001t0005g0002a0001c0001t0005g0003others(3): Show | 6 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.1793+4382delT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | 120150661 | |||||
| chr2:120150792
|
T | A | 1 | a0002c0002t0001g0211 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1793+4503T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120150792 | ||||||
| chr2:120151103
|
G | A | 1 | a0002c0002t0001g0262 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.1793+4814G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120151103 | ||||||
| chr2:120151256
|
C | T | 3 | a0002c0002t0001g0224a0002c0002t0001g0248a0002c0002t0001g0259 | 3 | HG01433.hp1 HG01978.hp1 NA18965.hp1 |
intron_variant | MODIFIER | c.1793+4967C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120151256 | ||||||
| chr2:120151265
|
A | T | 1 | a0002c0002t0001g0213 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1793+4976A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120151265 | ||||||
| chr2:120151278
|
C | T | 133 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(130): Show | 133 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(130): Show |
intron_variant | MODIFIER | c.1793+4989C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120151278 | ||||||
| chr2:120151306
|
T | A | 133 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(130): Show | 133 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(130): Show |
intron_variant | MODIFIER | c.1793+5017T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120151306 | ||||||
| chr2:120151309
|
T | A | 1 | a0002c0002t0020g0112 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1793+5020T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120151309 | ||||||
| chr2:120151385
|
C | T | 1 | a0001c0001t0006g0128 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1793+5096C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120151385 | ||||||
| chr2:120151503
|
C | A | 1 | a0002c0002t0001g0205 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.1793+5214C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120151503 | ||||||
| chr2:120151561
|
C | T | 1 | a0002c0002t0018g0207 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1793+5272C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120151561 | ||||||
| chr2:120151572
|
A | C | 1 | a0001c0001t0002g0058 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.1793+5283A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120151572 | ||||||
| chr2:120151609
|
CCTTT | C | 15 | a0001c0001t0002g0008a0001c0001t0002g0009a0001c0001t0002g0012others(12): Show | 15 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(12): Show |
intron_variant | MODIFIER | c.1793+5321_1793+532 others(8): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120151609 | ||||||
| chr2:120151610
|
C | CT | 18 | a0001c0001t0002g0016a0001c0001t0002g0026a0001c0001t0002g0080others(15): Show | 18 | HG01109.hp2 HG01346.hp1 HG01358.hp1 others(15): Show |
intron_variant | MODIFIER | c.1793+5343dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | 120151610 | |||||
| chr2:120151610
|
CT | C | 7 | a0001c0001t0002g0052a0001c0001t0004g0118a0001c0001t0006g0122others(4): Show | 7 | HG02895.hp1 HG02897.hp1 HG03239.hp2 others(4): Show |
intron_variant | MODIFIER | c.1793+5343delT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | 120151610 | |||||
| chr2:120151622
|
T | C | 1 | a0002c0002t0001g0169 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.1793+5333T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120151622 | ||||||
| chr2:120151632
|
T | A | 1 | a0002c0002t0001g0267 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1793+5343T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120151632 | ||||||
| chr2:120151668
|
A | G | 1 | a0002c0002t0018g0207 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1793+5379A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120151668 | ||||||
| chr2:120151673
|
A | G | 2 | a0001c0001t0002g0021a0001c0001t0002g0101 | 2 | HG01516.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.1793+5384A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120151673 | ||||||
| chr2:120151678
|
G | A | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1793+5389G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120151678 | ||||||
| chr2:120151855
|
A | G | 147 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(144): Show | 147 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(144): Show |
intron_variant | MODIFIER | c.1793+5566A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120151855 | ||||||
| chr2:120151934
|
A | G | 1 | a0001c0001t0002g0067 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.1793+5645A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120151934 | ||||||
| chr2:120152030
|
T | G | 1 | a0001c0001t0004g0118 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.1793+5741T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120152030 | ||||||
| chr2:120152221
|
G | GA | 10 | a0001c0001t0006g0120a0001c0001t0006g0121a0001c0001t0006g0122others(7): Show | 10 | HG00735.hp1 HG02630.hp2 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.1793+5937dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | 120152221 | |||||
| chr2:120152278
|
A | G | 2 | a0002c0002t0001g0210a0002c0002t0001g0211 | 2 | HG02486.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.1793+5989A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120152278 | ||||||
| chr2:120152323
|
A | T | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1793+6034A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120152323 | ||||||
| chr2:120152399
|
G | A | 1 | a0002c0002t0001g0200 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.1793+6110G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120152399 | ||||||
| chr2:120152414
|
CA | C | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.1793+6126delA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120152414 | ||||||
| chr2:120152433
|
G | A | 2 | a0001c0001t0006g0126a0001c0001t0006g0127 | 2 | HG02630.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.1793+6144G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120152433 | ||||||
| chr2:120152826
|
G | A | 1 | a0002c0002t0001g0193 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1793+6537G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120152826 | ||||||
| chr2:120152922
|
T | C | 1 | a0002c0002t0001g0167 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.1793+6633T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120152922 | ||||||
| chr2:120152929
|
C | T | 1 | a0002c0002t0001g0216 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1793+6640C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120152929 | ||||||
| chr2:120153085
|
G | A | 1 | a0001c0001t0002g0061 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1793+6796G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120153085 | ||||||
| chr2:120153094
|
G | A | 1 | a0002c0002t0001g0239 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.1793+6805G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120153094 | ||||||
| chr2:120153444
|
G | T | 133 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(130): Show | 133 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(130): Show |
intron_variant | MODIFIER | c.1793+7155G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120153444 | ||||||
| chr2:120153626
|
T | C | 2 | a0002c0002t0001g0237a0002c0002t0001g0275 | 2 | NA18954.hp2 NA19091.hp2 |
intron_variant | MODIFIER | c.1794-7255T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120153626 | ||||||
| chr2:120154095
|
G | GT | 18 | a0002c0002t0001g0136a0002c0002t0001g0155a0002c0002t0001g0206others(15): Show | 18 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(15): Show |
intron_variant | MODIFIER | c.1794-6775dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | 120154095 | |||||
| chr2:120154096
|
T | G | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1794-6785T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120154096 | ||||||
| chr2:120154098
|
T | C | 9 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(6): Show | 9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.1794-6783T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120154098 | ||||||
| chr2:120154147
|
A | G | 1 | a0001c0001t0002g0037 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.1794-6734A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120154147 | ||||||
| chr2:120154155
|
T | G | 1 | a0002c0002t0001g0159 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1794-6726T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120154155 | ||||||
| chr2:120154412
|
G | A | 133 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(130): Show | 133 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(130): Show |
intron_variant | MODIFIER | c.1794-6469G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120154412 | ||||||
| chr2:120154460
|
C | T | 2 | a0002c0002t0001g0264a0002c0002t0001g0265 | 2 | NA18970.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.1794-6421C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120154460 | ||||||
| chr2:120154491
|
C | T | 133 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(130): Show | 133 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(130): Show |
intron_variant | MODIFIER | c.1794-6390C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120154491 | ||||||
| chr2:120154754
|
G | A | 1 | a0001c0001t0002g0095 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.1794-6127G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120154754 | ||||||
| chr2:120154782
|
C | T | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1794-6099C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120154782 | ||||||
| chr2:120154787
|
G | A | 3 | a0002c0002t0001g0180a0002c0002t0019g0203a0002c0002t0022g0178 | 3 | HG00609.hp2 NA18998.hp2 NA19000.hp1 |
intron_variant | MODIFIER | c.1794-6094G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120154787 | ||||||
| chr2:120154873
|
C | T | 18 | a0002c0002t0001g0136a0002c0002t0001g0155a0002c0002t0001g0202others(15): Show | 18 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(15): Show |
intron_variant | MODIFIER | c.1794-6008C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120154873 | ||||||
| chr2:120155001
|
C | T | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1794-5880C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120155001 | ||||||
| chr2:120155626
|
C | T | 1 | a0001c0001t0002g0025 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.1794-5255C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120155626 | ||||||
| chr2:120155797
|
T | A | 1 | a0001c0001t0002g0031 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.1794-5084T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120155797 | ||||||
| chr2:120155800
|
TAA | T | 10 | a0001c0001t0006g0120a0001c0001t0006g0121a0001c0001t0006g0122others(7): Show | 10 | HG00735.hp1 HG02630.hp2 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.1794-5070_1794-506 others(6): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | 120155800 | |||||
| chr2:120155881
|
G | A | 133 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(130): Show | 133 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(130): Show |
intron_variant | MODIFIER | c.1794-5000G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120155881 | ||||||
| chr2:120155968
|
C | T | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1794-4913C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120155968 | ||||||
| chr2:120156171
|
C | T | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1794-4710C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120156171 | ||||||
| chr2:120156360
|
A | G | 1 | a0002c0002t0001g0271 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1794-4521A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120156360 | ||||||
| chr2:120156552
|
A | C | 2 | a0001c0001t0006g0126a0001c0001t0006g0127 | 2 | HG02630.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.1794-4329A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120156552 | ||||||
| chr2:120156627
|
A | C | 19 | a0002c0002t0001g0136a0002c0002t0001g0155a0002c0002t0001g0202others(16): Show | 19 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(16): Show |
intron_variant | MODIFIER | c.1794-4254A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120156627 | ||||||
| chr2:120156794
|
T | C | 1 | a0001c0001t0017g0007 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1794-4087T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120156794 | ||||||
| chr2:120157210
|
G | A | 1 | a0002c0002t0018g0207 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1794-3671G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120157210 | ||||||
| chr2:120157424
|
G | GA | 13 | a0001c0001t0002g0052a0001c0001t0002g0100a0001c0001t0002g0105others(10): Show | 13 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(10): Show |
intron_variant | MODIFIER | c.1794-3446dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | 120157424 | |||||
| chr2:120157523
|
A | C | 10 | a0001c0001t0006g0120a0001c0001t0006g0121a0001c0001t0006g0122others(7): Show | 10 | HG00735.hp1 HG02630.hp2 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.1794-3358A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120157523 | ||||||
| chr2:120157570
|
G | T | 2 | a0001c0001t0008g0133a0001c0001t0008g0134 | 2 | HG03209.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1794-3311G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120157570 | ||||||
| chr2:120157751
|
G | A | 138 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(135): Show | 138 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(135): Show |
intron_variant | MODIFIER | c.1794-3130G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120157751 | ||||||
| chr2:120157768
|
C | CA | 28 | a0001c0001t0002g0025a0001c0001t0002g0031a0001c0001t0002g0051others(25): Show | 28 | HG00735.hp2 HG00741.hp1 HG00741.hp2 others(25): Show |
intron_variant | MODIFIER | c.1794-3094dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | 120157768 | |||||
| chr2:120157768
|
CA | C | 14 | a0001c0001t0002g0102a0001c0001t0003g0087a0001c0001t0004g0118others(11): Show | 14 | HG01070.hp2 HG01884.hp1 HG02486.hp1 others(11): Show |
intron_variant | MODIFIER | c.1794-3094delA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | 120157768 | |||||
| chr2:120158108
|
G | A | 3 | a0001c0001t0002g0016a0001c0001t0002g0044a0001c0001t0002g0045 | 3 | HG02683.hp1 HG03831.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.1794-2773G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120158108 | ||||||
| chr2:120158128
|
C | T | 2 | a0002c0002t0001g0189a0002c0002t0001g0230 | 2 | NA19010.hp1 NA19080.hp2 |
intron_variant | MODIFIER | c.1794-2753C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120158128 | ||||||
| chr2:120158206
|
C | A | 3 | a0002c0002t0001g0210a0002c0002t0001g0211a0002c0002t0018g0207 | 3 | HG02486.hp2 HG03453.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1794-2675C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120158206 | ||||||
| chr2:120158227
|
C | A | 133 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(130): Show | 133 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(130): Show |
intron_variant | MODIFIER | c.1794-2654C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120158227 | ||||||
| chr2:120158494
|
A | G | 1 | a0001c0001t0002g0043 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1794-2387A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120158494 | ||||||
| chr2:120158661
|
C | G | 130 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(127): Show | 130 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(127): Show |
intron_variant | MODIFIER | c.1794-2220C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120158661 | ||||||
| chr2:120158809
|
C | G | 147 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(144): Show | 147 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(144): Show |
intron_variant | MODIFIER | c.1794-2072C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120158809 | ||||||
| chr2:120158868
|
G | T | 1 | a0002c0002t0001g0271 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1794-2013G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120158868 | ||||||
| chr2:120158912
|
T | C | 1 | a0002c0002t0001g0249 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.1794-1969T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120158912 | ||||||
| chr2:120159021
|
T | G | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1794-1860T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120159021 | ||||||
| chr2:120159260
|
T | TA | 20 | a0001c0001t0003g0068a0001c0001t0003g0085a0002c0002t0001g0136others(17): Show | 20 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(17): Show |
intron_variant | MODIFIER | c.1794-1607dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | 120159260 | |||||
| chr2:120159275
|
C | A | 132 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(129): Show | 132 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.1794-1606C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120159275 | ||||||
| chr2:120159297
|
C | A | 1 | a0002c0002t0001g0199 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.1794-1584C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120159297 | ||||||
| chr2:120159423
|
CA | C | 31 | a0001c0001t0002g0010a0001c0001t0002g0060a0001c0001t0002g0080others(28): Show | 31 | HG00735.hp1 HG00738.hp1 HG00741.hp2 others(28): Show |
intron_variant | MODIFIER | c.1794-1438delA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | 120159423 | |||||
| chr2:120159423
|
CAA | C | 137 | a0001c0001t0004g0114a0001c0001t0004g0115a0001c0001t0004g0116others(134): Show | 137 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(134): Show |
intron_variant | MODIFIER | c.1794-1439_1794-143 others(6): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | 120159423 | |||||
| chr2:120159447
|
ACAAT | A | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.1794-1429_1794-142 others(8): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | 120159447 | |||||
| chr2:120159454
|
A | G | 112 | a0002c0002t0001g0139a0002c0002t0001g0140a0002c0002t0001g0141others(109): Show | 112 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(109): Show |
intron_variant | MODIFIER | c.1794-1427A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120159454 | ||||||
| chr2:120159577
|
A | T | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.1794-1304A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120159577 | ||||||
| chr2:120159602
|
C | G | 1 | a0002c0002t0001g0146 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1794-1279C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120159602 | ||||||
| chr2:120159796
|
A | G | 10 | a0001c0001t0006g0120a0001c0001t0006g0121a0001c0001t0006g0122others(7): Show | 10 | HG00735.hp1 HG02630.hp2 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.1794-1085A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120159796 | ||||||
| chr2:120159932
|
T | C | 1 | a0002c0002t0001g0252 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.1794-949T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120159932 | ||||||
| chr2:120160001
|
T | G | 1 | a0001c0001t0002g0045 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.1794-880T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120160001 | ||||||
| chr2:120160024
|
G | T | 1 | a0001c0001t0002g0064 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.1794-857G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120160024 | ||||||
| chr2:120160204
|
C | T | 1 | a0002c0002t0001g0185 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1794-677C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120160204 | ||||||
| chr2:120160233
|
C | T | 1 | a0001c0001t0002g0132 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1794-648C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120160233 | ||||||
| chr2:120160481
|
T | C | 2 | a0001c0001t0006g0126a0001c0001t0006g0127 | 2 | HG02630.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.1794-400T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120160481 | ||||||
| chr2:120160707
|
G | A | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.1794-174G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 20/24 | chr2 | 120160707 | ||||||
| chr2:120161009
|
A | C | 133 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(130): Show | 133 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(130): Show |
intron_variant | MODIFIER | c.1887+35A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120161009 | ||||||
| chr2:120161150
|
T | C | 133 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(130): Show | 133 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(130): Show |
intron_variant | MODIFIER | c.1887+176T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120161150 | ||||||
| chr2:120161151
|
G | A | 3 | a0002c0002t0001g0180a0002c0002t0019g0203a0002c0002t0022g0178 | 3 | HG00609.hp2 NA18998.hp2 NA19000.hp1 |
intron_variant | MODIFIER | c.1887+177G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120161151 | ||||||
| chr2:120161174
|
T | TC | 9 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(6): Show | 9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.1887+201dupC | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr2 | 120161174 | |||||
| chr2:120161198
|
C | T | 1 | a0001c0001t0005g0003 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1887+224C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120161198 | ||||||
| chr2:120161243
|
T | G | 1 | a0002c0004t0001g0190 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1887+269T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120161243 | ||||||
| chr2:120161244
|
G | T | 1 | a0002c0004t0001g0190 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1887+270G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120161244 | ||||||
| chr2:120161296
|
T | C | 20 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(17): Show | 20 | HG00735.hp1 HG01243.hp2 HG02109.hp2 others(17): Show |
intron_variant | MODIFIER | c.1887+322T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120161296 | ||||||
| chr2:120161375
|
CA | C | 147 | a0001c0001t0002g0019a0001c0001t0002g0059a0001c0001t0002g0060others(144): Show | 147 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(144): Show |
intron_variant | MODIFIER | c.1887+418delA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr2 | 120161375 | |||||
| chr2:120161383
|
A | T | 1 | a0002c0004t0001g0190 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1887+409A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120161383 | ||||||
| chr2:120161393
|
T | A | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1887+419T>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120161393 | ||||||
| chr2:120161533
|
T | C | 147 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(144): Show | 147 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(144): Show |
intron_variant | MODIFIER | c.1887+559T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120161533 | ||||||
| chr2:120161710
|
A | G | 1 | a0001c0001t0002g0031 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.1887+736A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120161710 | ||||||
| chr2:120161912
|
A | G | 133 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(130): Show | 133 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(130): Show |
intron_variant | MODIFIER | c.1887+938A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120161912 | ||||||
| chr2:120162216
|
C | T | 171 | a0001c0001t0002g0132a0001c0001t0004g0107a0001c0001t0004g0108others(168): Show | 171 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(168): Show |
intron_variant | MODIFIER | c.1887+1242C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120162216 | ||||||
| chr2:120162329
|
G | T | 1 | a0002c0002t0001g0171 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1887+1355G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120162329 | ||||||
| chr2:120162465
|
A | G | 2 | a0002c0002t0001g0164a0002c0002t0001g0273 | 2 | HG02129.hp1 HG02135.hp1 |
intron_variant | MODIFIER | c.1887+1491A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120162465 | ||||||
| chr2:120162597
|
A | G | 1 | a0002c0002t0001g0188 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.1887+1623A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120162597 | ||||||
| chr2:120162654
|
A | G | 1 | a0001c0001t0002g0059 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1887+1680A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120162654 | ||||||
| chr2:120162781
|
C | T | 1 | a0002c0002t0001g0252 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.1887+1807C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120162781 | ||||||
| chr2:120162849
|
A | T | 1 | a0002c0002t0001g0181 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.1887+1875A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120162849 | ||||||
| chr2:120162881
|
TG | T | 10 | a0001c0001t0006g0120a0001c0001t0006g0121a0001c0001t0006g0122others(7): Show | 10 | HG00735.hp1 HG02630.hp2 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.1887+1908delG | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120162881 | ||||||
| chr2:120163258
|
G | GC | 27 | a0001c0001t0002g0018a0001c0001t0002g0025a0001c0001t0002g0029others(24): Show | 27 | HG00741.hp2 HG01496.hp1 HG01928.hp1 others(24): Show |
intron_variant | MODIFIER | c.1888-1564dupC | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr2 | 120163258 | |||||
| chr2:120163258
|
GC | G | 56 | a0001c0001t0002g0008a0001c0001t0002g0009a0001c0001t0002g0010others(53): Show | 56 | HG00639.hp1 HG00639.hp2 HG01069.hp1 others(53): Show |
intron_variant | MODIFIER | c.1888-1564delC | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr2 | 120163258 | |||||
| chr2:120163267
|
C | T | 1 | a0002c0002t0022g0178 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.1888-1569C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120163267 | ||||||
| chr2:120163268
|
C | A | 1 | a0001c0001t0002g0058 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.1888-1568C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120163268 | ||||||
| chr2:120163272
|
C | A | 116 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(113): Show | 116 | HG00408.hp1 HG00408.hp2 HG00609.hp2 others(113): Show |
intron_variant | MODIFIER | c.1888-1564C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120163272 | ||||||
| chr2:120163272
|
C | CA | 18 | a0002c0002t0001g0140a0002c0002t0001g0143a0002c0002t0001g0149others(15): Show | 18 | HG00423.hp1 HG00544.hp1 HG01109.hp2 others(15): Show |
intron_variant | MODIFIER | c.1888-1557dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr2 | 120163272 | |||||
| chr2:120163392
|
C | T | 3 | a0001c0001t0002g0016a0001c0001t0002g0044a0001c0001t0002g0045 | 3 | HG02683.hp1 HG03831.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.1888-1444C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120163392 | ||||||
| chr2:120163591
|
G | GT | 8 | a0001c0001t0002g0051a0001c0001t0002g0052a0001c0001t0002g0065others(5): Show | 8 | HG02135.hp2 NA18942.hp1 NA18954.hp1 others(5): Show |
intron_variant | MODIFIER | c.1888-1227dupT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr2 | 120163591 | |||||
| chr2:120163591
|
GT | G | 140 | a0001c0001t0002g0008a0001c0001t0002g0033a0001c0001t0002g0035others(137): Show | 140 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(137): Show |
intron_variant | MODIFIER | c.1888-1227delT | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr2 | 120163591 | |||||
| chr2:120163591
|
GTT | G | 9 | a0002c0002t0001g0136a0002c0002t0001g0144a0002c0002t0001g0155others(6): Show | 9 | HG01884.hp1 HG01884.hp2 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.1888-1228_1888-122 others(6): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr2 | 120163591 | |||||
| chr2:120163595
|
T | G | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1888-1241T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120163595 | ||||||
| chr2:120163704
|
C | A | 1 | a0001c0001t0017g0007 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1888-1132C>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120163704 | ||||||
| chr2:120163758
|
C | T | 1 | a0001c0001t0002g0091 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1888-1078C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120163758 | ||||||
| chr2:120163787
|
C | G | 1 | a0002c0002t0001g0253 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.1888-1049C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120163787 | ||||||
| chr2:120163819
|
G | C | 2 | a0001c0001t0008g0133a0001c0001t0008g0134 | 2 | HG03209.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1888-1017G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120163819 | ||||||
| chr2:120163956
|
C | T | 138 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(135): Show | 138 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(135): Show |
intron_variant | MODIFIER | c.1888-880C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120163956 | ||||||
| chr2:120163960
|
T | TTTTTA | 168 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0004g0113others(165): Show | 168 | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(165): Show |
intron_variant | MODIFIER | c.1888-871_1888-867d others(7): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr2 | 120163960 | |||||
| chr2:120163980
|
C | CTTTTTT | 5 | a0002c0002t0001g0192a0002c0002t0001g0239a0002c0002t0001g0244others(2): Show | 5 | HG01257.hp2 HG02155.hp2 HG03453.hp1 others(2): Show |
intron_variant | MODIFIER | c.1888-841_1888-836d others(8): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr2 | 120163980 | |||||
| chr2:120163980
|
C | CTTTTTTT | 129 | a0001c0001t0004g0113a0001c0001t0004g0115a0001c0001t0004g0117others(126): Show | 129 | HG00408.hp1 HG00408.hp2 HG00609.hp2 others(126): Show |
intron_variant | MODIFIER | c.1888-842_1888-836d others(9): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr2 | 120163980 | |||||
| chr2:120163980
|
C | CTTTTTTT others(1): Show |
33 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0004g0114others(30): Show | 33 | HG00423.hp1 HG00544.hp1 HG00738.hp1 others(30): Show |
intron_variant | MODIFIER | c.1888-843_1888-836d others(10): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr2 | 120163980 | |||||
| chr2:120164044
|
G | A | 133 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(130): Show | 133 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(130): Show |
intron_variant | MODIFIER | c.1888-792G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120164044 | ||||||
| chr2:120164045
|
C | T | 2 | a0002c0002t0001g0225a0002c0002t0001g0263 | 2 | HG01257.hp1 HG01261.hp1 |
intron_variant | MODIFIER | c.1888-791C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120164045 | ||||||
| chr2:120164054
|
C | T | 3 | a0002c0002t0001g0210a0002c0002t0001g0211a0002c0002t0018g0207 | 3 | HG02486.hp2 HG03453.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1888-782C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120164054 | ||||||
| chr2:120164066
|
T | C | 3 | a0002c0002t0001g0268a0002c0002t0001g0269a0002c0004t0001g0190 | 3 | NA18967.hp1 NA18990.hp2 NA19074.hp1 |
intron_variant | MODIFIER | c.1888-770T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120164066 | ||||||
| chr2:120164190
|
G | T | 2 | a0002c0002t0001g0208a0002c0002t0001g0209 | 2 | HG01243.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.1888-646G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 21/24 | chr2 | 120164190 | ||||||
| chr2:120165028
|
TTA | T | 9 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(6): Show | 9 | HG01243.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.1962+120_1962+121d others(4): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | INFO_REALIGN_3_PRIME | chr2 | 120165028 | |||||
| chr2:120165211
|
T | G | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1962+301T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | chr2 | 120165211 | ||||||
| chr2:120165238
|
G | A | 1 | a0002c0002t0024g0186 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1962+328G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | chr2 | 120165238 | ||||||
| chr2:120165905
|
G | T | 133 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(130): Show | 133 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(130): Show |
intron_variant | MODIFIER | c.1962+995G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | chr2 | 120165905 | ||||||
| chr2:120165946
|
C | T | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1962+1036C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | chr2 | 120165946 | ||||||
| chr2:120165947
|
G | A | 3 | a0001c0001t0003g0078a0001c0001t0003g0083a0001c0001t0003g0096 | 3 | NA18947.hp1 NA18969.hp2 NA19007.hp2 |
intron_variant | MODIFIER | c.1962+1037G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | chr2 | 120165947 | ||||||
| chr2:120165967
|
C | CA | 86 | a0001c0001t0002g0001a0001c0001t0002g0009a0001c0001t0002g0013others(83): Show | 86 | HG00423.hp1 HG00544.hp2 HG00609.hp2 others(83): Show |
intron_variant | MODIFIER | c.1962+1084dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | INFO_REALIGN_3_PRIME | chr2 | 120165967 | |||||
| chr2:120165967
|
C | CAA | 14 | a0001c0001t0002g0067a0001c0001t0002g0278a0001c0001t0005g0154others(11): Show | 14 | HG00544.hp1 HG01346.hp1 HG01928.hp2 others(11): Show |
intron_variant | MODIFIER | c.1962+1083_1962+108 others(6): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | INFO_REALIGN_3_PRIME | chr2 | 120165967 | |||||
| chr2:120165967
|
CA | C | 12 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0116others(9): Show | 12 | HG00639.hp1 HG01070.hp1 HG01243.hp2 others(9): Show |
intron_variant | MODIFIER | c.1962+1084delA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | INFO_REALIGN_3_PRIME | chr2 | 120165967 | |||||
| chr2:120165967
|
CAA | C | 6 | a0001c0001t0004g0115a0001c0001t0004g0117a0001c0001t0004g0118others(3): Show | 6 | HG01891.hp2 HG02109.hp2 HG02809.hp1 others(3): Show |
intron_variant | MODIFIER | c.1962+1083_1962+108 others(6): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | INFO_REALIGN_3_PRIME | chr2 | 120165967 | |||||
| chr2:120165967
|
CAAAAAAA others(9): Show |
C | 2 | a0001c0001t0002g0019a0001c0001t0002g0095 | 2 | HG01175.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.1962+1069_1962+108 others(20): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | INFO_REALIGN_3_PRIME | chr2 | 120165967 | |||||
| chr2:120166068
|
G | A | 1 | a0002c0002t0001g0201 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.1962+1158G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | chr2 | 120166068 | ||||||
| chr2:120166410
|
G | A | 133 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(130): Show | 133 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(130): Show |
intron_variant | MODIFIER | c.1963-1056G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | chr2 | 120166410 | ||||||
| chr2:120166421
|
G | A | 20 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(17): Show | 20 | HG00735.hp1 HG01243.hp2 HG02109.hp2 others(17): Show |
intron_variant | MODIFIER | c.1963-1045G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | chr2 | 120166421 | ||||||
| chr2:120166457
|
T | TG | 131 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(128): Show | 131 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(128): Show |
intron_variant | MODIFIER | c.1963-1006dupG | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | INFO_REALIGN_3_PRIME | chr2 | 120166457 | |||||
| chr2:120166461
|
T | G | 1 | a0002c0002t0001g0220 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.1963-1005T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | chr2 | 120166461 | ||||||
| chr2:120166573
|
G | A | 133 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(130): Show | 133 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(130): Show |
intron_variant | MODIFIER | c.1963-893G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | chr2 | 120166573 | ||||||
| chr2:120166683
|
A | G | 133 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(130): Show | 133 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(130): Show |
intron_variant | MODIFIER | c.1963-783A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | chr2 | 120166683 | ||||||
| chr2:120166727
|
C | T | 1 | a0002c0002t0001g0199 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.1963-739C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | chr2 | 120166727 | ||||||
| chr2:120166879
|
T | C | 5 | a0002c0002t0001g0233a0002c0002t0001g0240a0002c0002t0001g0241others(2): Show | 5 | NA18947.hp2 NA18957.hp2 NA18995.hp2 others(2): Show |
intron_variant | MODIFIER | c.1963-587T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | chr2 | 120166879 | ||||||
| chr2:120166968
|
T | C | 18 | a0002c0002t0001g0136a0002c0002t0001g0155a0002c0002t0001g0202others(15): Show | 18 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(15): Show |
intron_variant | MODIFIER | c.1963-498T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | chr2 | 120166968 | ||||||
| chr2:120167133
|
C | T | 1 | a0002c0002t0001g0147 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.1963-333C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | chr2 | 120167133 | ||||||
| chr2:120167223
|
A | C | 1 | a0002c0002t0001g0169 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.1963-243A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | chr2 | 120167223 | ||||||
| chr2:120167312
|
G | T | 2 | a0001c0001t0008g0133a0001c0001t0008g0134 | 2 | HG03209.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1963-154G>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 22/24 | chr2 | 120167312 | ||||||
| chr2:120167576
|
G | A | 1 | a0001c0001t0002g0132 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2004+69G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 23/24 | chr2 | 120167576 | ||||||
| chr2:120167634
|
T | G | 9 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(6): Show | 9 | HG01981.hp2 HG02148.hp1 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.2004+127T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 23/24 | chr2 | 120167634 | ||||||
| chr2:120167685
|
G | A | 1 | a0001c0001t0002g0027 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.2004+178G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 23/24 | chr2 | 120167685 | ||||||
| chr2:120167691
|
A | C | 2 | a0001c0001t0008g0133a0001c0001t0008g0134 | 2 | HG03209.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.2004+184A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 23/24 | chr2 | 120167691 | ||||||
| chr2:120167708
|
A | C | 1 | a0006c0006t0014g0111 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.2005-169A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 23/24 | chr2 | 120167708 | ||||||
| chr2:120168075
|
T | C | 1 | a0002c0002t0001g0169 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.2135+68T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120168075 | ||||||
| chr2:120168290
|
C | T | 133 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(130): Show | 133 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(130): Show |
intron_variant | MODIFIER | c.2135+283C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120168290 | ||||||
| chr2:120168400
|
C | G | 1 | a0002c0002t0001g0249 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.2135+393C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120168400 | ||||||
| chr2:120168651
|
C | T | 2 | a0001c0001t0008g0133a0001c0001t0008g0134 | 2 | HG03209.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.2135+644C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120168651 | ||||||
| chr2:120168678
|
G | A | 1 | a0002c0002t0001g0221 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.2135+671G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120168678 | ||||||
| chr2:120169079
|
A | C | 1 | a0002c0002t0001g0185 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2135+1072A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120169079 | ||||||
| chr2:120169189
|
A | T | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.2135+1182A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120169189 | ||||||
| chr2:120169637
|
G | A | 2 | a0002c0002t0001g0139a0002c0002t0001g0247 | 2 | HG02132.hp1 NA19004.hp1 |
intron_variant | MODIFIER | c.2135+1630G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120169637 | ||||||
| chr2:120169672
|
C | T | 1 | a0001c0001t0002g0058 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.2135+1665C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120169672 | ||||||
| chr2:120169774
|
C | T | 1 | a0006c0006t0014g0111 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.2135+1767C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120169774 | ||||||
| chr2:120169828
|
G | A | 1 | a0003c0003t0006g0125 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.2135+1821G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120169828 | ||||||
| chr2:120169999
|
A | G | 4 | a0001c0001t0002g0010a0001c0001t0002g0047a0001c0001t0002g0048others(1): Show | 4 | NA18948.hp2 NA18995.hp1 NA19060.hp1 others(1): Show |
intron_variant | MODIFIER | c.2135+1992A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120169999 | ||||||
| chr2:120170014
|
A | G | 1 | a0002c0002t0001g0219 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.2135+2007A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120170014 | ||||||
| chr2:120170130
|
A | G | 2 | a0001c0001t0008g0133a0001c0001t0008g0134 | 2 | HG03209.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.2135+2123A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120170130 | ||||||
| chr2:120170324
|
G | C | 1 | a0002c0002t0018g0207 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.2135+2317G>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120170324 | ||||||
| chr2:120171070
|
G | A | 1 | a0001c0001t0002g0091 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.2135+3063G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120171070 | ||||||
| chr2:120171114
|
A | G | 1 | a0002c0002t0001g0163 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2135+3107A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120171114 | ||||||
| chr2:120171479
|
T | G | 147 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(144): Show | 147 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(144): Show |
intron_variant | MODIFIER | c.2136-3362T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120171479 | ||||||
| chr2:120172009
|
T | TA | 20 | a0001c0001t0002g0031a0001c0001t0004g0107a0001c0001t0004g0108others(17): Show | 20 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(17): Show |
intron_variant | MODIFIER | c.2136-2819dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | INFO_REALIGN_3_PRIME | chr2 | 120172009 | |||||
| chr2:120172029
|
C | CAAGG | 147 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(144): Show | 147 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(144): Show |
intron_variant | MODIFIER | c.2136-2809_2136-280 others(8): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | INFO_REALIGN_3_PRIME | chr2 | 120172029 | |||||
| chr2:120172200
|
T | G | 5 | a0001c0001t0005g0002a0001c0001t0005g0003a0001c0001t0005g0004others(2): Show | 5 | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.2136-2641T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120172200 | ||||||
| chr2:120172258
|
C | T | 112 | a0002c0002t0001g0139a0002c0002t0001g0140a0002c0002t0001g0141others(109): Show | 112 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(109): Show |
intron_variant | MODIFIER | c.2136-2583C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120172258 | ||||||
| chr2:120172532
|
T | G | 2 | a0001c0001t0009g0137a0001c0001t0009g0138 | 2 | HG02109.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.2136-2309T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120172532 | ||||||
| chr2:120172692
|
A | G | 2 | a0001c0001t0004g0107a0001c0001t0004g0108 | 2 | HG00738.hp1 HG00741.hp2 |
intron_variant | MODIFIER | c.2136-2149A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120172692 | ||||||
| chr2:120172769
|
A | G | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.2136-2072A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120172769 | ||||||
| chr2:120172892
|
T | C | 2 | a0001c0001t0002g0022a0001c0001t0002g0024 | 2 | HG01069.hp2 HG01071.hp1 |
intron_variant | MODIFIER | c.2136-1949T>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120172892 | ||||||
| chr2:120172911
|
C | T | 4 | a0001c0001t0002g0022a0001c0001t0002g0023a0001c0001t0002g0024others(1): Show | 4 | HG01069.hp2 HG01071.hp1 HG01943.hp2 others(1): Show |
intron_variant | MODIFIER | c.2136-1930C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120172911 | ||||||
| chr2:120173016
|
C | T | 7 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(4): Show | 7 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(4): Show |
intron_variant | MODIFIER | c.2136-1825C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120173016 | ||||||
| chr2:120173066
|
A | C | 9 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0150others(6): Show | 9 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(6): Show |
intron_variant | MODIFIER | c.2136-1775A>C | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120173066 | ||||||
| chr2:120173252
|
TAAG | T | 4 | a0002c0002t0001g0225a0002c0002t0001g0263a0002c0002t0001g0272others(1): Show | 4 | HG01081.hp2 HG01192.hp2 HG01257.hp1 others(1): Show |
intron_variant | MODIFIER | c.2136-1585_2136-158 others(7): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | INFO_REALIGN_3_PRIME | chr2 | 120173252 | |||||
| chr2:120173389
|
G | A | 1 | a0001c0001t0002g0020 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.2136-1452G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120173389 | ||||||
| chr2:120173390
|
A | G | 36 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0004g0113others(33): Show | 36 | HG00735.hp1 HG00738.hp1 HG00741.hp2 others(33): Show |
intron_variant | MODIFIER | c.2136-1451A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120173390 | ||||||
| chr2:120173392
|
A | T | 1 | a0002c0002t0001g0254 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.2136-1449A>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120173392 | ||||||
| chr2:120173440
|
C | T | 36 | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0004g0113others(33): Show | 36 | HG00735.hp1 HG00738.hp1 HG00741.hp2 others(33): Show |
intron_variant | MODIFIER | c.2136-1401C>T | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120173440 | ||||||
| chr2:120173920
|
G | A | 1 | a0001c0001t0003g0083 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.2136-921G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120173920 | ||||||
| chr2:120174051
|
A | G | 22 | a0001c0001t0004g0113a0001c0001t0004g0114a0001c0001t0004g0115others(19): Show | 22 | HG00735.hp1 HG01243.hp2 HG02109.hp1 others(19): Show |
intron_variant | MODIFIER | c.2136-790A>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120174051 | ||||||
| chr2:120174104
|
G | A | 2 | a0001c0001t0005g0150a0001c0001t0005g0151 | 2 | HG01070.hp2 HG01071.hp2 |
intron_variant | MODIFIER | c.2136-737G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120174104 | ||||||
| chr2:120174247
|
G | A | 1 | a0002c0002t0001g0147 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.2136-594G>A | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120174247 | ||||||
| chr2:120174302
|
C | G | 1 | a0001c0001t0002g0037 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.2136-539C>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120174302 | ||||||
| chr2:120174468
|
G | GA | 130 | a0002c0002t0001g0136a0002c0002t0001g0139a0002c0002t0001g0140others(127): Show | 130 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(127): Show |
intron_variant | MODIFIER | c.2136-362dupA | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | INFO_REALIGN_3_PRIME | chr2 | 120174468 | |||||
| chr2:120174601
|
T | G | 9 | a0002c0002t0001g0156a0002c0002t0001g0158a0002c0002t0001g0159others(6): Show | 9 | HG00639.hp1 HG01069.hp1 HG01070.hp1 others(6): Show |
intron_variant | MODIFIER | c.2136-240T>G | EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | chr2 | 120174601 | ||||||
| chr2:120174798
|
ACCCCAGG others(5): Show |
A | 1 | a0001c0001t0002g0017 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.2136-40_2136-29del others(12): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 24/24 | INFO_REALIGN_3_PRIME | chr2 | 120174798 |