Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 23136 |
|---|---|
| ensemblid | ENSG00000082397.18 |
| hgncid | 3380 |
| symbol | EPB41L3 |
| name | erythrocyte membrane protein band 4.1 like 3 |
| refseq_nuc | NM_012307.5 |
| refseq_prot | NP_036439.2 |
| ensembl_nuc | ENST00000341928.7 |
| ensembl_prot | ENSP00000343158.2 |
| mane_status | MANE Select |
| chr | chr18 |
| start | 5392386 |
| end | 5543997 |
| strand | - |
| ver | v1.2 |
| region | chr18:5392386-5543997 |
| region5000 | chr18:5387386-5548997 |
| regionname0 | EPB41L3_chr18_5392386_5543997 |
| regionname5000 | EPB41L3_chr18_5387386_5548997 |
| ahapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 1087 | 174 | 67 | 34 | 51 | 3 | 17 | 35 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0002 | 0/0 | 1087 | 18 | 3 | 6 | 5 | 1 | 3 | 4 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0003 | 0/0 | 1087 | 9 | 7 | 1 | 0 | 0 | 1 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0004 | 0/0 | 1087 | 4 | 3 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0005 | 0/0 | 1087 | 3 | 0 | 0 | 3 | 0 | 0 | 2 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0006 | 0/0 | 1087 | 3 | 1 | 0 | 0 | 2 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0007 | 0/0 | 1087 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0008 | 0/0 | 1087 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0009 | 0/0 | 1087 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0010 | 0/0 | 1087 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0011 | 0/0 | 1087 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0012 | 0/0 | 1087 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0013 | 0/0 | 1087 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0014 | 0/0 | 1087 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0015 | 0/0 | 1087 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| chapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 0/1 | 3264 | 114 | 23 | 28 | 45 | 3 | 14 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| c0002 | 1/0 | 3264 | 51 | 37 | 6 | 5 | 0 | 2 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| c0003 | 0/0 | 3264 | 16 | 3 | 6 | 4 | 1 | 2 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| c0004 | 0/0 | 3264 | 7 | 5 | 1 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| c0005 | 0/0 | 3264 | 5 | 5 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| c0006 | 0/0 | 3264 | 4 | 3 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| c0007 | 0/0 | 3264 | 3 | 0 | 0 | 3 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| c0008 | 0/0 | 3264 | 3 | 1 | 0 | 0 | 2 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| c0009 | 0/0 | 3264 | 2 | 2 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| c0010 | 0/0 | 3264 | 2 | 2 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| c0011 | 0/0 | 3264 | 2 | 2 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| c0012 | 0/0 | 3264 | 2 | 2 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| c0013 | 0/0 | 3264 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| c0014 | 0/0 | 3264 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| c0015 | 0/0 | 3264 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| c0016 | 0/0 | 3264 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| c0017 | 0/0 | 3264 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| c0018 | 0/0 | 3264 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| c0019 | 0/0 | 3264 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| c0020 | 0/0 | 3264 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| c0021 | 0/0 | 3264 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| c0022 | 0/0 | 3264 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| c0023 | 0/0 | 3264 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| thapid | grch38chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 1/1 | 1196 | 115 | 19 | 25 | 54 | 5 | 10 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| t0002 | 0/0 | 1196 | 74 | 56 | 9 | 4 | 0 | 5 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| t0003 | 0/0 | 1196 | 10 | 0 | 6 | 1 | 1 | 2 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| t0004 | 0/0 | 1196 | 5 | 5 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| t0005 | 0/0 | 1196 | 5 | 2 | 1 | 0 | 0 | 2 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| t0006 | 0/0 | 1196 | 3 | 0 | 3 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| t0007 | 0/0 | 1196 | 3 | 3 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| t0008 | 0/0 | 1196 | 2 | 0 | 0 | 0 | 0 | 2 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| t0009 | 0/0 | 1196 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| t0010 | 0/0 | 1196 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| t0011 | 0/0 | 1196 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| t0012 | 0/0 | 1196 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| t0013 | 0/0 | 1196 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| 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 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0002 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0004 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0014 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0024 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0025 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0033 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0035 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0043 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0044 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0048 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0063 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0076 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0077 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0078 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0079 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0081 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0083 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0084 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0085 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0089 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0091 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0097 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0099 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0107 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0108 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0112 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0113 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0114 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0115 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0122 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0123 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0129 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0133 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0137 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0138 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0140 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0141 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0142 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0144 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0147 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0148 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0149 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0150 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0151 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0152 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0153 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0154 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0155 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0166 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0167 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0168 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0169 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0170 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0171 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0172 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0173 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0174 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0175 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0176 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0177 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0181 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0185 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0186 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0192 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0193 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0196 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0200 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0202 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0203 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0207 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0209 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0210 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0211 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0212 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0214 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0217 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0219 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0220 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0221 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| achapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/1 | 3264 | 114 | 23 | 28 | 45 | 3 | 14 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0001c0002 | 1/0 | 3264 | 51 | 37 | 6 | 5 | 0 | 2 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0001c0005 | 0/0 | 3264 | 5 | 5 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0001c0012 | 0/0 | 3264 | 2 | 2 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0001c0018 | 0/0 | 3264 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0001c0020 | 0/0 | 3264 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0002c0003 | 0/0 | 3264 | 16 | 3 | 6 | 4 | 1 | 2 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0002c0014 | 0/0 | 3264 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0002c0022 | 0/0 | 3264 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0003c0004 | 0/0 | 3264 | 7 | 5 | 1 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0003c0010 | 0/0 | 3264 | 2 | 2 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0004c0006 | 0/0 | 3264 | 4 | 3 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0005c0007 | 0/0 | 3264 | 3 | 0 | 0 | 3 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0006c0008 | 0/0 | 3264 | 3 | 1 | 0 | 0 | 2 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0007c0011 | 0/0 | 3264 | 2 | 2 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0008c0009 | 0/0 | 3264 | 2 | 2 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0009c0023 | 0/0 | 3264 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0010c0017 | 0/0 | 3264 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0011c0021 | 0/0 | 3264 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0012c0019 | 0/0 | 3264 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0013c0016 | 0/0 | 3264 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0014c0015 | 0/0 | 3264 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0015c0013 | 0/0 | 3264 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/1 | 4459 | 93 | 13 | 23 | 44 | 3 | 9 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0001c0001t0002 | 0/0 | 4459 | 11 | 9 | 0 | 0 | 0 | 2 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0001c0001t0003 | 0/0 | 4459 | 2 | 0 | 2 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0001c0001t0005 | 0/0 | 4459 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0001c0001t0006 | 0/0 | 4459 | 2 | 0 | 2 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0001c0001t0007 | 0/0 | 4459 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0001c0001t0008 | 0/0 | 4459 | 2 | 0 | 0 | 0 | 0 | 2 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0001c0001t0009 | 0/0 | 4459 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0001c0001t0013 | 0/0 | 4459 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0001c0002t0001 | 1/0 | 4459 | 5 | 3 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0001c0002t0002 | 0/0 | 4459 | 43 | 32 | 6 | 4 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0001c0002t0003 | 0/0 | 4459 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0001c0002t0010 | 0/0 | 4459 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0001c0002t0012 | 0/0 | 4459 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0001c0005t0004 | 0/0 | 4459 | 5 | 5 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0001c0012t0001 | 0/0 | 4459 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0001c0012t0002 | 0/0 | 4459 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0001c0018t0001 | 0/0 | 4459 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0001c0020t0001 | 0/0 | 4459 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0002c0003t0001 | 0/0 | 4459 | 3 | 0 | 0 | 3 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0002c0003t0002 | 0/0 | 4459 | 5 | 3 | 1 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0002c0003t0003 | 0/0 | 4459 | 7 | 0 | 4 | 1 | 1 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0002c0003t0006 | 0/0 | 4459 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0002c0014t0002 | 0/0 | 4459 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0002c0022t0001 | 0/0 | 4459 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0003c0004t0002 | 0/0 | 4459 | 4 | 3 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0003c0004t0005 | 0/0 | 4459 | 3 | 2 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0003c0010t0007 | 0/0 | 4459 | 2 | 2 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0004c0006t0002 | 0/0 | 4459 | 3 | 2 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0004c0006t0011 | 0/0 | 4459 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0005c0007t0001 | 0/0 | 4459 | 3 | 0 | 0 | 3 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0006c0008t0001 | 0/0 | 4459 | 3 | 1 | 0 | 0 | 2 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0007c0011t0002 | 0/0 | 4459 | 2 | 2 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0008c0009t0002 | 0/0 | 4459 | 2 | 2 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0009c0023t0005 | 0/0 | 4459 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0010c0017t0002 | 0/0 | 4459 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0011c0021t0002 | 0/0 | 4459 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0012c0019t0001 | 0/0 | 4459 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0013c0016t0001 | 0/0 | 4459 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0014c0015t0001 | 0/0 | 4459 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| a0015c0013t0001 | 0/0 | 4459 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | copy fasta | chr18 | 5387386 | 5548997 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0002 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0004 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0024 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0043 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0048 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0077 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0083 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0084 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0085 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0089 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0097 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0113 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0114 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0129 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0133 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0137 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0138 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0140 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0141 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0144 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0151 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0153 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0154 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0167 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0181 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0203 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0207 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0209 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0211 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0212 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0217 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0219 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0001g0220 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0002g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0002g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0002g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0002g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0002g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0002g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0002g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0002g0123 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0002g0166 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0002g0176 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0002g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0003g0081 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0003g0122 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0005g0168 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0006g0091 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0006g0202 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0007g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0008g0063 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0008g0193 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0009g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0001t0013g0025 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0001g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0001g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0001g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0001g0214 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0001g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0002g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0002g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0002g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0002g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0002g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0002g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0002g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0002g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0002g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0002g0033 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0002g0035 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0002g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0002g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0002g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0002g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0002g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0002g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0002g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0002g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0002g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0002g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0002g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0002g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0002g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0002g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0002g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0002g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0002g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0002g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0002g0149 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0002g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0002g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0002g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0002g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0002g0170 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0002g0172 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0002g0177 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0002g0185 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0002g0186 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0002g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0002g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0002g0221 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0002g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0003g0142 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0010g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0002t0012g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0005t0004g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0005t0004g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0005t0004g0169 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0005t0004g0175 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0005t0004g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0012t0001g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0012t0002g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0018t0001g0044 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0001c0020t0001g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0002c0003t0001g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0002c0003t0001g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0002c0003t0001g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0002c0003t0002g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0002c0003t0002g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0002c0003t0002g0108 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0002c0003t0002g0174 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0002c0003t0002g0210 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0002c0003t0003g0076 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0002c0003t0003g0078 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0002c0003t0003g0079 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0002c0003t0003g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0002c0003t0003g0115 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0002c0003t0003g0147 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0002c0003t0003g0155 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0002c0003t0006g0112 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0002c0014t0002g0196 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0002c0022t0001g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0003c0004t0002g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0003c0004t0002g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0003c0004t0002g0150 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0003c0004t0002g0173 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0003c0004t0005g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0003c0004t0005g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0003c0004t0005g0107 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0003c0010t0007g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0003c0010t0007g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0004c0006t0002g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0004c0006t0002g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0004c0006t0002g0200 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0004c0006t0011g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0005c0007t0001g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0005c0007t0001g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0005c0007t0001g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0006c0008t0001g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0006c0008t0001g0148 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0006c0008t0001g0192 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0007c0011t0002g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0007c0011t0002g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0008c0009t0002g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0008c0009t0002g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0009c0023t0005g0014 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0010c0017t0002g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0011c0021t0002g0171 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0012c0019t0001g0099 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0013c0016t0001g0152 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0014c0015t0001g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| a0015c0013t0001g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00323 | hp1 | a0001 | c0001 | t0001 | g0154 | EUR | FIN | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG00323 | hp2 | a0006 | c0008 | t0001 | g0148 | EUR | FIN | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG00408 | hp1 | a0001 | c0001 | t0001 | g0105 | EAS | CHS | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG00408 | hp2 | a0001 | c0001 | t0001 | g0046 | EAS | CHS | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG00558 | hp1 | a0005 | c0007 | t0001 | g0191 | EAS | CHS | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG00558 | hp2 | a0001 | c0001 | t0001 | g0127 | EAS | CHS | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG00673 | hp1 | a0001 | c0001 | t0001 | g0145 | EAS | CHS | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG00673 | hp2 | a0001 | c0001 | t0001 | g0139 | EAS | CHS | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG00733 | hp1 | a0012 | c0019 | t0001 | g0099 | AMR | PUR | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG00733 | hp2 | a0001 | c0001 | t0005 | g0168 | AMR | PUR | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG00735 | hp1 | a0001 | c0001 | t0001 | g0141 | AMR | PUR | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG00735 | hp2 | a0003 | c0004 | t0002 | g0150 | AMR | PUR | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG00738 | hp1 | a0001 | c0001 | t0001 | g0119 | AMR | PUR | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG00738 | hp2 | a0001 | c0001 | t0001 | g0211 | AMR | PUR | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG01074 | hp1 | a0001 | c0001 | t0003 | g0081 | AMR | PUR | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG01074 | hp2 | a0001 | c0001 | t0001 | g0146 | AMR | PUR | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG01081 | hp1 | a0002 | c0003 | t0003 | g0115 | AMR | PUR | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG01081 | hp2 | a0001 | c0002 | t0002 | g0035 | AMR | PUR | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG01106 | hp1 | a0002 | c0003 | t0002 | g0174 | AMR | PUR | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG01106 | hp2 | a0001 | c0001 | t0001 | g0030 | AMR | PUR | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG01109 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG01109 | hp2 | a0001 | c0001 | t0001 | g0089 | AMR | PUR | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG01169 | hp1 | a0001 | c0002 | t0002 | g0149 | AMR | PUR | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG01169 | hp2 | a0001 | c0001 | t0001 | g0019 | AMR | PUR | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG01175 | hp1 | a0001 | c0001 | t0001 | g0143 | AMR | PUR | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG01175 | hp2 | a0004 | c0006 | t0002 | g0072 | AMR | PUR | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG01192 | hp1 | a0002 | c0003 | t0003 | g0078 | AMR | PUR | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG01192 | hp2 | a0001 | c0001 | t0006 | g0202 | AMR | PUR | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG01243 | hp1 | a0001 | c0002 | t0002 | g0071 | AMR | PUR | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG01243 | hp2 | a0001 | c0002 | t0002 | g0049 | AMR | PUR | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG01255 | hp1 | a0001 | c0001 | t0001 | g0167 | AMR | CLM | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG01255 | hp2 | a0001 | c0001 | t0001 | g0004 | AMR | CLM | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG01257 | hp1 | a0001 | c0001 | t0001 | g0017 | AMR | CLM | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG01257 | hp2 | a0001 | c0001 | t0001 | g0085 | AMR | CLM | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG01258 | hp1 | a0013 | c0016 | t0001 | g0152 | AMR | CLM | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG01258 | hp2 | a0001 | c0001 | t0001 | g0084 | AMR | CLM | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG01361 | hp1 | a0001 | c0001 | t0001 | g0114 | AMR | CLM | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG01361 | hp2 | a0001 | c0001 | t0001 | g0097 | AMR | CLM | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG01433 | hp1 | a0001 | c0001 | t0001 | g0021 | AMR | CLM | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG01433 | hp2 | a0001 | c0001 | t0001 | g0113 | AMR | CLM | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG01496 | hp1 | a0001 | c0001 | t0001 | g0151 | AMR | CLM | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG01496 | hp2 | a0001 | c0001 | t0001 | g0138 | AMR | CLM | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG01516 | hp1 | a0002 | c0003 | t0003 | g0147 | EUR | IBS | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG01516 | hp2 | a0001 | c0001 | t0001 | g0153 | EUR | IBS | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG01884 | hp1 | a0001 | c0002 | t0002 | g0027 | AFR | ACB | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG01884 | hp2 | a0001 | c0001 | t0001 | g0213 | AFR | ACB | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG01891 | hp1 | a0001 | c0002 | t0002 | g0170 | AFR | ACB | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG01891 | hp2 | a0002 | c0003 | t0002 | g0009 | AFR | ACB | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG01952 | hp1 | a0001 | c0001 | t0003 | g0122 | AMR | PEL | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG01952 | hp2 | a0001 | c0002 | t0002 | g0022 | AMR | PEL | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG01978 | hp1 | a0002 | c0003 | t0003 | g0079 | AMR | PEL | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG01978 | hp2 | a0001 | c0001 | t0001 | g0129 | AMR | PEL | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG01981 | hp1 | a0002 | c0003 | t0006 | g0112 | AMR | PEL | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG01981 | hp2 | a0001 | c0002 | t0002 | g0177 | AMR | PEL | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG01993 | hp1 | a0002 | c0003 | t0003 | g0076 | AMR | PEL | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG01993 | hp2 | a0001 | c0001 | t0001 | g0083 | AMR | PEL | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02015 | hp1 | a0001 | c0001 | t0001 | g0124 | EAS | KHV | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02015 | hp2 | a0001 | c0001 | t0009 | g0001 | EAS | KHV | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02055 | hp1 | a0001 | c0002 | t0002 | g0087 | AFR | ACB | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02055 | hp2 | a0008 | c0009 | t0002 | g0165 | AFR | ACB | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02074 | hp1 | a0001 | c0001 | t0001 | g0194 | EAS | KHV | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02074 | hp2 | a0001 | c0001 | t0001 | g0126 | EAS | KHV | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02135 | hp1 | a0001 | c0001 | t0001 | g0180 | EAS | KHV | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02135 | hp2 | a0002 | c0003 | t0001 | g0090 | EAS | KHV | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02145 | hp1 | a0001 | c0002 | t0002 | g0059 | AFR | ACB | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02145 | hp2 | a0001 | c0001 | t0001 | g0116 | AFR | ACB | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02165 | hp1 | a0001 | c0001 | t0001 | g0199 | EAS | CDX | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02165 | hp2 | a0001 | c0001 | t0001 | g0179 | EAS | CDX | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02257 | hp1 | a0001 | c0001 | t0002 | g0055 | AFR | ACB | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02257 | hp2 | a0003 | c0004 | t0005 | g0062 | AFR | ACB | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02258 | hp1 | a0004 | c0006 | t0011 | g0070 | AFR | ACB | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02258 | hp2 | a0004 | c0006 | t0002 | g0200 | AFR | ACB | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02280 | hp1 | a0001 | c0002 | t0002 | g0131 | AFR | ACB | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02280 | hp2 | a0001 | c0001 | t0001 | g0128 | AFR | ACB | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02300 | hp1 | a0001 | c0001 | t0006 | g0091 | AMR | PEL | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02300 | hp2 | a0001 | c0001 | t0001 | g0077 | AMR | PEL | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02451 | hp1 | a0001 | c0002 | t0002 | g0172 | AFR | ACB | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02451 | hp2 | a0001 | c0002 | t0002 | g0164 | AFR | ACB | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02523 | hp1 | a0001 | c0001 | t0001 | g0066 | EAS | KHV | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02523 | hp2 | a0001 | c0001 | t0001 | g0201 | EAS | KHV | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02572 | hp1 | a0001 | c0002 | t0002 | g0075 | AFR | GWD | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02572 | hp2 | a0002 | c0003 | t0002 | g0036 | AFR | GWD | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02622 | hp1 | a0001 | c0002 | t0001 | g0215 | AFR | GWD | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02622 | hp2 | a0001 | c0001 | t0001 | g0051 | AFR | GWD | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02630 | hp1 | a0001 | c0002 | t0010 | g0031 | AFR | GWD | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02630 | hp2 | a0001 | c0001 | t0002 | g0058 | AFR | GWD | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02647 | hp1 | a0003 | c0004 | t0002 | g0173 | AFR | GWD | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02647 | hp2 | a0002 | c0003 | t0002 | g0210 | AFR | GWD | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02698 | hp1 | a0001 | c0001 | t0001 | g0203 | SAS | PJL | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02698 | hp2 | a0001 | c0001 | t0001 | g0043 | SAS | PJL | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02717 | hp1 | a0001 | c0012 | t0001 | g0093 | AFR | GWD | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02717 | hp2 | a0001 | c0005 | t0004 | g0013 | AFR | GWD | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02723 | hp1 | a0003 | c0004 | t0002 | g0007 | AFR | GWD | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02723 | hp2 | a0003 | c0010 | t0007 | g0074 | AFR | GWD | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02738 | hp1 | a0001 | c0001 | t0001 | g0133 | SAS | PJL | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02738 | hp2 | a0001 | c0002 | t0003 | g0142 | SAS | PJL | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02809 | hp1 | a0001 | c0001 | t0001 | g0057 | AFR | GWD | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02809 | hp2 | a0001 | c0002 | t0002 | g0028 | AFR | GWD | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02818 | hp1 | a0001 | c0002 | t0002 | g0006 | AFR | GWD | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02818 | hp2 | a0004 | c0006 | t0002 | g0092 | AFR | GWD | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02886 | hp1 | a0007 | c0011 | t0002 | g0050 | AFR | GWD | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02886 | hp2 | a0001 | c0002 | t0001 | g0041 | AFR | GWD | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02896 | hp1 | a0001 | c0002 | t0002 | g0186 | AFR | GWD | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02896 | hp2 | a0001 | c0002 | t0002 | g0056 | AFR | GWD | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02897 | hp1 | a0001 | c0002 | t0002 | g0185 | AFR | GWD | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02897 | hp2 | a0001 | c0001 | t0001 | g0181 | AFR | GWD | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02922 | hp1 | a0003 | c0004 | t0005 | g0005 | AFR | ESN | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02922 | hp2 | a0001 | c0002 | t0001 | g0026 | AFR | ESN | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02965 | hp1 | a0001 | c0002 | t0002 | g0064 | AFR | ESN | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02965 | hp2 | a0001 | c0002 | t0002 | g0188 | AFR | ESN | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02976 | hp1 | a0001 | c0002 | t0002 | g0023 | AFR | ESN | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02976 | hp2 | a0010 | c0017 | t0002 | g0032 | AFR | ESN | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG03017 | hp1 | a0001 | c0001 | t0001 | g0144 | SAS | PJL | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG03017 | hp2 | a0001 | c0001 | t0001 | g0209 | SAS | PJL | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG03041 | hp1 | a0001 | c0001 | t0001 | g0052 | AFR | GWD | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG03041 | hp2 | a0001 | c0001 | t0002 | g0206 | AFR | GWD | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG03098 | hp1 | a0001 | c0005 | t0004 | g0169 | AFR | MSL | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG03098 | hp2 | a0001 | c0001 | t0002 | g0176 | AFR | MSL | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG03130 | hp1 | a0001 | c0002 | t0002 | g0221 | AFR | ESN | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG03130 | hp2 | a0001 | c0002 | t0002 | g0069 | AFR | ESN | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG03139 | hp1 | a0001 | c0002 | t0002 | g0039 | AFR | ESN | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG03139 | hp2 | a0001 | c0002 | t0002 | g0216 | AFR | ESN | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG03195 | hp1 | a0001 | c0001 | t0002 | g0018 | AFR | ESN | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG03195 | hp2 | a0001 | c0002 | t0002 | g0100 | AFR | ESN | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG03209 | hp1 | a0001 | c0002 | t0002 | g0037 | AFR | MSL | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG03209 | hp2 | a0001 | c0002 | t0002 | g0163 | AFR | MSL | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG03225 | hp1 | a0001 | c0005 | t0004 | g0175 | AFR | MSL | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG03225 | hp2 | a0001 | c0001 | t0002 | g0094 | AFR | MSL | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG03453 | hp1 | a0001 | c0001 | t0001 | g0212 | AFR | MSL | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG03453 | hp2 | a0001 | c0005 | t0004 | g0178 | AFR | MSL | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG03516 | hp1 | a0001 | c0002 | t0002 | g0053 | AFR | ESN | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG03516 | hp2 | a0007 | c0011 | t0002 | g0095 | AFR | ESN | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG03579 | hp1 | a0001 | c0005 | t0004 | g0054 | AFR | MSL | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG03579 | hp2 | a0015 | c0013 | t0001 | g0125 | AFR | MSL | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG03654 | hp1 | a0001 | c0001 | t0008 | g0193 | SAS | PJL | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG03654 | hp2 | a0003 | c0004 | t0005 | g0107 | SAS | PJL | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG03669 | hp1 | a0001 | c0001 | t0001 | g0024 | SAS | PJL | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG03669 | hp2 | a0001 | c0001 | t0002 | g0166 | SAS | PJL | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG03704 | hp1 | a0009 | c0023 | t0005 | g0014 | SAS | PJL | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG03704 | hp2 | a0001 | c0002 | t0002 | g0033 | SAS | PJL | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG03831 | hp1 | a0002 | c0003 | t0003 | g0155 | SAS | BEB | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG03831 | hp2 | a0001 | c0018 | t0001 | g0044 | SAS | BEB | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG03834 | hp1 | a0001 | c0001 | t0001 | g0220 | SAS | BEB | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG03834 | hp2 | a0001 | c0001 | t0002 | g0123 | SAS | BEB | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG04184 | hp1 | a0001 | c0001 | t0008 | g0063 | SAS | BEB | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG04184 | hp2 | a0001 | c0001 | t0013 | g0025 | SAS | BEB | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG04228 | hp1 | a0001 | c0001 | t0001 | g0140 | SAS | STU | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG04228 | hp2 | a0002 | c0003 | t0002 | g0108 | SAS | STU | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA18522 | hp1 | a0001 | c0002 | t0002 | g0040 | AFR | YRI | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA18522 | hp2 | a0001 | c0001 | t0001 | g0096 | AFR | YRI | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA18747 | hp1 | a0001 | c0002 | t0002 | g0222 | EAS | CHB | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA18747 | hp2 | a0001 | c0001 | t0001 | g0205 | EAS | CHB | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA18906 | hp1 | a0001 | c0001 | t0001 | g0010 | AFR | YRI | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA18906 | hp2 | a0001 | c0002 | t0002 | g0047 | AFR | YRI | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA18942 | hp1 | a0001 | c0001 | t0001 | g0060 | EAS | JPT | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA18942 | hp2 | a0001 | c0001 | t0001 | g0184 | EAS | JPT | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA18945 | hp1 | a0001 | c0001 | t0001 | g0045 | EAS | JPT | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA18945 | hp2 | a0001 | c0001 | t0001 | g0117 | EAS | JPT | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA18952 | hp1 | a0001 | c0001 | t0001 | g0158 | EAS | JPT | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA18952 | hp2 | a0001 | c0001 | t0001 | g0101 | EAS | JPT | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA18959 | hp1 | a0001 | c0001 | t0001 | g0195 | EAS | JPT | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA18959 | hp2 | a0001 | c0001 | t0001 | g0103 | EAS | JPT | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA18961 | hp1 | a0002 | c0003 | t0001 | g0088 | EAS | JPT | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA18961 | hp2 | a0005 | c0007 | t0001 | g0190 | EAS | JPT | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA18964 | hp1 | a0001 | c0001 | t0001 | g0134 | EAS | JPT | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA18964 | hp2 | a0001 | c0002 | t0002 | g0029 | EAS | JPT | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA18965 | hp1 | a0002 | c0003 | t0001 | g0102 | EAS | JPT | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA18965 | hp2 | a0001 | c0002 | t0002 | g0157 | EAS | JPT | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA18975 | hp1 | a0005 | c0007 | t0001 | g0189 | EAS | JPT | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA18975 | hp2 | a0001 | c0002 | t0002 | g0156 | EAS | JPT | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA18978 | hp1 | a0001 | c0001 | t0001 | g0219 | EAS | JPT | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA18978 | hp2 | a0001 | c0001 | t0001 | g0160 | EAS | JPT | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA18979 | hp1 | a0001 | c0001 | t0001 | g0111 | EAS | JPT | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA18979 | hp2 | a0001 | c0001 | t0001 | g0159 | EAS | JPT | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA18983 | hp1 | a0001 | c0001 | t0001 | g0136 | EAS | JPT | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA18983 | hp2 | a0001 | c0001 | t0001 | g0208 | EAS | JPT | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA18986 | hp1 | a0001 | c0001 | t0001 | g0104 | EAS | JPT | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA18986 | hp2 | a0001 | c0001 | t0001 | g0182 | EAS | JPT | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA18998 | hp1 | a0001 | c0001 | t0001 | g0218 | EAS | JPT | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA18998 | hp2 | a0002 | c0003 | t0003 | g0080 | EAS | JPT | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA19000 | hp1 | a0001 | c0002 | t0001 | g0161 | EAS | JPT | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA19000 | hp2 | a0001 | c0001 | t0001 | g0217 | EAS | JPT | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA19002 | hp1 | a0001 | c0001 | t0001 | g0120 | EAS | JPT | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA19002 | hp2 | a0001 | c0001 | t0001 | g0042 | EAS | JPT | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA19003 | hp1 | a0001 | c0001 | t0001 | g0106 | EAS | JPT | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA19003 | hp2 | a0001 | c0001 | t0001 | g0197 | EAS | JPT | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA19007 | hp1 | a0001 | c0001 | t0001 | g0183 | EAS | JPT | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA19007 | hp2 | a0001 | c0001 | t0001 | g0118 | EAS | JPT | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA19010 | hp1 | a0001 | c0001 | t0001 | g0162 | EAS | JPT | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA19010 | hp2 | a0001 | c0020 | t0001 | g0198 | EAS | JPT | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA19012 | hp1 | a0014 | c0015 | t0001 | g0003 | EAS | JPT | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA19012 | hp2 | a0001 | c0001 | t0001 | g0038 | EAS | JPT | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA19043 | hp1 | a0008 | c0009 | t0002 | g0020 | AFR | LWK | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA19043 | hp2 | a0011 | c0021 | t0002 | g0171 | AFR | LWK | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA19057 | hp1 | a0001 | c0001 | t0001 | g0121 | EAS | JPT | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA19057 | hp2 | a0002 | c0022 | t0001 | g0082 | EAS | JPT | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA19063 | hp1 | a0001 | c0001 | t0001 | g0061 | EAS | JPT | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA19063 | hp2 | a0001 | c0001 | t0001 | g0135 | EAS | JPT | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA19240 | hp1 | a0001 | c0002 | t0012 | g0067 | AFR | YRI | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA19240 | hp2 | a0001 | c0002 | t0002 | g0012 | AFR | YRI | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA20129 | hp1 | a0003 | c0004 | t0002 | g0098 | AFR | ASW | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA20129 | hp2 | a0001 | c0001 | t0001 | g0109 | AFR | ASW | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0137 | EUR | TSI | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA20752 | hp2 | a0006 | c0008 | t0001 | g0192 | EUR | TSI | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA20905 | hp1 | a0001 | c0001 | t0001 | g0207 | SAS | GIH | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA20905 | hp2 | a0002 | c0014 | t0002 | g0196 | SAS | GIH | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02109 | hp1 | a0001 | c0001 | t0002 | g0011 | AFR | ACB | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02109 | hp2 | a0001 | c0002 | t0002 | g0073 | AFR | ACB | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02486 | hp1 | a0001 | c0002 | t0002 | g0130 | AFR | ACB | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02486 | hp2 | a0001 | c0012 | t0002 | g0204 | AFR | ACB | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02559 | hp1 | a0001 | c0001 | t0002 | g0086 | AFR | ACB | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG02559 | hp2 | a0003 | c0010 | t0007 | g0187 | AFR | ACB | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG03471 | hp1 | a0001 | c0001 | t0002 | g0015 | AFR | MSL | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG03471 | hp2 | a0001 | c0002 | t0002 | g0008 | AFR | MSL | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG06807 | hp1 | a0006 | c0008 | t0001 | g0068 | AFR | USA | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| HG06807 | hp2 | a0001 | c0002 | t0002 | g0132 | AFR | USA | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA20300 | hp1 | a0001 | c0001 | t0001 | g0110 | AFR | USA | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA20300 | hp2 | a0001 | c0001 | t0007 | g0065 | AFR | USA | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA21309 | hp1 | a0001 | c0001 | t0001 | g0034 | AFR | LWK | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| NA21309 | hp2 | a0001 | c0002 | t0002 | g0016 | AFR | LWK | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0001 | g0048 | REF | REF | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| homoSapiens_grch38 | hp1 | a0001 | c0002 | t0001 | g0214 | REF | REF | EPB41L3_chr18_5387386_5548997 | EPB41L3 | chr18 | 5387386 | 5548997 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr18:5396259
|
G | A | 1 | a0005 | 3 | HG00558.hp1 NA18961.hp2 NA18975.hp1 |
missense_variant | MODERATE | c.2915C>T | p.Thr972Met | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 19/23 | 3011/4459 | 2915/3264 | 972/1087 | chr18 | 5396259 | ||
| chr18:5396325
|
G | T | 1 | a0012 | 1 | HG00733.hp1 | missense_variant | MODERATE | c.2849C>A | p.Thr950Lys | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 19/23 | 2945/4459 | 2849/3264 | 950/1087 | chr18 | 5396325 | ||
| chr18:5397129
|
G | A | 3 | a0007a0010a0011 | 4 | HG02886.hp1 HG02976.hp2 HG03516.hp2 others(1): Show |
missense_variant | MODERATE | c.2770C>T | p.Arg924Cys | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 18/23 | 2866/4459 | 2770/3264 | 924/1087 | chr18 | 5397129 | ||
| chr18:5397324
|
C | G | 1 | a0004 | 4 | HG01175.hp2 HG02258.hp1 HG02258.hp2 others(1): Show |
missense_variant | MODERATE | c.2575G>C | p.Glu859Gln | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 18/23 | 2671/4459 | 2575/3264 | 859/1087 | chr18 | 5397324 | ||
| chr18:5397384
|
G | A | 1 | a0006 | 3 | HG00323.hp2 HG06807.hp1 NA20752.hp2 |
missense_variant | MODERATE | c.2515C>T | p.Pro839Ser | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 18/23 | 2611/4459 | 2515/3264 | 839/1087 | chr18 | 5397384 | ||
| chr18:5397405
|
A | C | 2 | a0007a0010 | 3 | HG02886.hp1 HG02976.hp2 HG03516.hp2 |
missense_variant | MODERATE | c.2494T>G | p.Ser832Ala | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 18/23 | 2590/4459 | 2494/3264 | 832/1087 | chr18 | 5397405 | ||
| chr18:5410595
|
C | T | 1 | a0013 | 1 | HG01258.hp1 | missense_variant | MODERATE | c.2092G>A | p.Ala698Thr | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 14/23 | 2188/4459 | 2092/3264 | 698/1087 | chr18 | 5410595 | ||
| chr18:5415846
|
T | C | 1 | a0007 | 2 | HG02886.hp1 HG03516.hp2 |
missense_variant | MODERATE | c.2039A>G | p.Asn680Ser | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/23 | 2135/4459 | 2039/3264 | 680/1087 | chr18 | 5415846 | ||
| chr18:5416161
|
T | C | 1 | a0002 | 18 | HG01081.hp1 HG01106.hp1 HG01192.hp1 others(15): Show |
missense_variant | MODERATE | c.1724A>G | p.Tyr575Cys | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/23 | 1820/4459 | 1724/3264 | 575/1087 | chr18 | 5416161 | ||
| chr18:5416222
|
C | T | 3 | a0003a0009a0015 | 11 | HG00735.hp2 HG02257.hp2 HG02559.hp2 others(8): Show |
missense_variant | MODERATE | c.1663G>A | p.Ala555Thr | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/23 | 1759/4459 | 1663/3264 | 555/1087 | chr18 | 5416222 | ||
| chr18:5419857
|
C | T | 1 | a0014 | 1 | NA19012.hp1 | missense_variant | MODERATE | c.1360G>A | p.Ala454Thr | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 12/23 | 1456/4459 | 1360/3264 | 454/1087 | chr18 | 5419857 | ||
| chr18:5478296
|
C | A | 1 | a0009 | 1 | HG03704.hp1 | missense_variant | MODERATE | c.326G>T | p.Ser109Ile | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/23 | 422/4459 | 326/3264 | 109/1087 | chr18 | 5478296 | ||
| chr18:5489077
|
G | T | 2 | a0008a0015 | 3 | HG02055.hp2 HG03579.hp2 NA19043.hp1 |
missense_variant | MODERATE | c.107C>A | p.Pro36Gln | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/23 | 203/4459 | 107/3264 | 36/1087 | chr18 | 5489077 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr18:5395678
|
G | T | 1 | a0001c0020 | 1 | NA19010.hp2 | synonymous_variant | LOW | c.3003C>A | p.Gly1001Gly | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 20/23 | 3099/4459 | 3003/3264 | 1001/1087 | chr18 | 5395678 | ||
| chr18:5397205
|
C | T | 1 | a0001c0018 | 1 | HG03831.hp2 | synonymous_variant | LOW | c.2694G>A | p.Thr898Thr | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 18/23 | 2790/4459 | 2694/3264 | 898/1087 | chr18 | 5397205 | ||
| chr18:5410575
|
A | G | 15 | a0001c0001a0001c0012a0001c0018others(12): Show | 138 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(135): Show |
synonymous_variant | LOW | c.2112T>C | p.Thr704Thr | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 14/23 | 2208/4459 | 2112/3264 | 704/1087 | chr18 | 5410575 | ||
| chr18:5416319
|
G | A | 1 | a0001c0005 | 5 | HG02717.hp2 HG03098.hp1 HG03225.hp1 others(2): Show |
synonymous_variant | LOW | c.1566C>T | p.Pro522Pro | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/23 | 1662/4459 | 1566/3264 | 522/1087 | chr18 | 5416319 | ||
| chr18:5433938
|
C | T | 1 | a0002c0014 | 1 | NA20905.hp2 | synonymous_variant | LOW | c.789G>A | p.Leu263Leu | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 7/23 | 885/4459 | 789/3264 | 263/1087 | chr18 | 5433938 | ||
| chr18:5434037
|
G | A | 1 | a0001c0012 | 2 | HG02486.hp2 HG02717.hp1 |
synonymous_variant | LOW | c.690C>T | p.Ser230Ser | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 7/23 | 786/4459 | 690/3264 | 230/1087 | chr18 | 5434037 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr18:5392392
|
T | C | 1 | a0001c0001t0008 | 2 | HG03654.hp1 HG04184.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1093A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 23/23 | 2291 | chr18 | 5392392 | |||||
| chr18:5392450
|
C | T | 2 | a0001c0001t0007a0003c0010t0007 | 3 | HG02559.hp2 HG02723.hp2 NA20300.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1035G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 23/23 | 2233 | chr18 | 5392450 | |||||
| chr18:5392463
|
A | G | 2 | a0001c0001t0006a0002c0003t0006 | 3 | HG01192.hp2 HG01981.hp1 HG02300.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1022T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 23/23 | 2220 | chr18 | 5392463 | |||||
| chr18:5392654
|
T | A | 23 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(20): Show | 100 | HG00733.hp2 HG00735.hp2 HG01074.hp1 others(97): Show |
3_prime_UTR_variant | MODIFIER | c.*831A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 23/23 | 2029 | chr18 | 5392654 | |||||
| chr18:5392685
|
G | C | 1 | a0004c0006t0011 | 1 | HG02258.hp1 | 3_prime_UTR_variant | MODIFIER | c.*800C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 23/23 | 1998 | chr18 | 5392685 | |||||
| chr18:5392777
|
T | G | 1 | a0001c0005t0004 | 5 | HG02717.hp2 HG03098.hp1 HG03225.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*708A>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 23/23 | 1906 | chr18 | 5392777 | |||||
| chr18:5392832
|
C | A | 3 | a0001c0001t0003a0001c0002t0003a0002c0003t0003 | 10 | HG01074.hp1 HG01081.hp1 HG01192.hp1 others(7): Show |
3_prime_UTR_variant | MODIFIER | c.*653G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 23/23 | 1851 | chr18 | 5392832 | |||||
| chr18:5392885
|
T | C | 1 | a0001c0002t0012 | 1 | NA19240.hp1 | 3_prime_UTR_variant | MODIFIER | c.*600A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 23/23 | 1798 | chr18 | 5392885 | |||||
| chr18:5392896
|
C | T | 1 | a0001c0002t0010 | 1 | HG02630.hp1 | 3_prime_UTR_variant | MODIFIER | c.*589G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 23/23 | 1787 | chr18 | 5392896 | |||||
| chr18:5393025
|
G | A | 3 | a0001c0001t0005a0003c0004t0005a0009c0023t0005 | 5 | HG00733.hp2 HG02257.hp2 HG02922.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*460C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 23/23 | 1658 | chr18 | 5393025 | |||||
| chr18:5393163
|
C | A | 1 | a0001c0001t0013 | 1 | HG04184.hp2 | 3_prime_UTR_variant | MODIFIER | c.*322G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 23/23 | 1520 | chr18 | 5393163 | |||||
| chr18:5543962
|
G | T | 1 | a0001c0001t0009 | 1 | HG02015.hp2 | 5_prime_UTR_variant | MODIFIER | c.-61C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/23 | 54779 | chr18 | 5543962 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr18:5393606
|
C | T | 11 | a0001c0001t0002g0011a0001c0001t0003g0081a0001c0001t0003g0122others(8): Show | 11 | HG01074.hp1 HG01081.hp1 HG01192.hp1 others(8): Show |
intron_variant | MODIFIER | c.*7-128G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 22/22 | chr18 | 5393606 | ||||||
| chr18:5393654
|
C | T | 3 | a0002c0003t0002g0009a0002c0003t0002g0174a0002c0003t0002g0210 | 3 | HG01106.hp1 HG01891.hp2 HG02647.hp2 |
intron_variant | MODIFIER | c.*7-176G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 22/22 | chr18 | 5393654 | ||||||
| chr18:5393674
|
A | G | 2 | a0001c0001t0001g0126a0001c0001t0001g0195 | 2 | HG02074.hp2 NA18959.hp1 |
intron_variant | MODIFIER | c.*7-196T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 22/22 | chr18 | 5393674 | ||||||
| chr18:5393687
|
G | T | 44 | a0001c0001t0002g0011a0001c0001t0002g0015a0001c0001t0002g0018others(41): Show | 44 | HG00733.hp2 HG00735.hp2 HG01074.hp1 others(41): Show |
intron_variant | MODIFIER | c.*7-209C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 22/22 | chr18 | 5393687 | ||||||
| chr18:5393707
|
G | T | 44 | a0001c0001t0002g0011a0001c0001t0002g0015a0001c0001t0002g0018others(41): Show | 44 | HG00733.hp2 HG00735.hp2 HG01074.hp1 others(41): Show |
intron_variant | MODIFIER | c.*7-229C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 22/22 | chr18 | 5393707 | ||||||
| chr18:5394078
|
G | A | 16 | a0001c0001t0002g0055a0001c0001t0002g0058a0001c0001t0002g0094others(13): Show | 16 | HG00733.hp2 HG00735.hp2 HG01106.hp1 others(13): Show |
intron_variant | MODIFIER | c.*6+599C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 22/22 | chr18 | 5394078 | ||||||
| chr18:5394107
|
C | T | 7 | a0001c0001t0005g0168a0002c0003t0002g0036a0002c0014t0002g0196others(4): Show | 7 | HG00733.hp2 HG02257.hp2 HG02572.hp2 others(4): Show |
intron_variant | MODIFIER | c.*6+570G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 22/22 | chr18 | 5394107 | ||||||
| chr18:5394117
|
A | G | 1 | a0001c0002t0001g0215 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.*6+560T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 22/22 | chr18 | 5394117 | ||||||
| chr18:5394134
|
A | C | 1 | a0001c0012t0002g0204 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.*6+543T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 22/22 | chr18 | 5394134 | ||||||
| chr18:5394192
|
T | C | 16 | a0001c0001t0002g0055a0001c0001t0002g0058a0001c0001t0002g0094others(13): Show | 16 | HG00733.hp2 HG00735.hp2 HG01106.hp1 others(13): Show |
intron_variant | MODIFIER | c.*6+485A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 22/22 | chr18 | 5394192 | ||||||
| chr18:5394301
|
C | T | 1 | a0011c0021t0002g0171 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.*6+376G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 22/22 | chr18 | 5394301 | ||||||
| chr18:5394310
|
C | A | 1 | a0002c0003t0003g0155 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.*6+367G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 22/22 | chr18 | 5394310 | ||||||
| chr18:5395252
|
G | T | 2 | a0007c0011t0002g0095a0010c0017t0002g0032 | 2 | HG02976.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.3073-105C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 20/22 | chr18 | 5395252 | ||||||
| chr18:5395431
|
G | A | 12 | a0001c0001t0002g0011a0001c0001t0002g0015a0001c0001t0002g0086others(9): Show | 12 | HG01175.hp2 HG02109.hp1 HG02258.hp2 others(9): Show |
intron_variant | MODIFIER | c.3072+178C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 20/22 | chr18 | 5395431 | ||||||
| chr18:5395479
|
C | T | 10 | a0001c0001t0002g0055a0001c0001t0002g0058a0001c0001t0002g0094others(7): Show | 10 | HG00735.hp2 HG01106.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.3072+130G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 20/22 | chr18 | 5395479 | ||||||
| chr18:5395723
|
C | T | 1 | a0001c0001t0002g0018 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.2974-16G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 19/22 | chr18 | 5395723 | ||||||
| chr18:5395772
|
C | T | 1 | a0001c0001t0001g0110 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.2974-65G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 19/22 | chr18 | 5395772 | ||||||
| chr18:5395795
|
T | TTTCACTA others(2): Show |
14 | a0001c0001t0002g0018a0001c0001t0002g0055a0001c0001t0002g0058others(11): Show | 14 | HG00735.hp2 HG01106.hp1 HG01891.hp2 others(11): Show |
intron_variant | MODIFIER | c.2974-97_2974-89dup others(9): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 19/22 | chr18 | 5395795 | ||||||
| chr18:5395801
|
T | A | 1 | a0001c0020t0001g0198 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.2974-94A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 19/22 | chr18 | 5395801 | ||||||
| chr18:5395879
|
G | A | 14 | a0001c0001t0002g0018a0001c0001t0002g0055a0001c0001t0002g0058others(11): Show | 14 | HG00735.hp2 HG01106.hp1 HG01891.hp2 others(11): Show |
intron_variant | MODIFIER | c.2974-172C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 19/22 | chr18 | 5395879 | ||||||
| chr18:5396045
|
A | AT | 14 | a0001c0001t0002g0018a0001c0001t0002g0055a0001c0001t0002g0058others(11): Show | 14 | HG00735.hp2 HG01106.hp1 HG01891.hp2 others(11): Show |
intron_variant | MODIFIER | c.2973+155_2973+156i others(3): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 19/22 | chr18 | 5396045 | ||||||
| chr18:5396046
|
A | G | 14 | a0001c0001t0002g0018a0001c0001t0002g0055a0001c0001t0002g0058others(11): Show | 14 | HG00735.hp2 HG01106.hp1 HG01891.hp2 others(11): Show |
intron_variant | MODIFIER | c.2973+155T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 19/22 | chr18 | 5396046 | ||||||
| chr18:5396490
|
T | TCAAA | 14 | a0001c0001t0002g0018a0001c0001t0002g0055a0001c0001t0002g0058others(11): Show | 14 | HG00735.hp2 HG01106.hp1 HG01891.hp2 others(11): Show |
intron_variant | MODIFIER | c.2842-159_2842-158i others(6): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 18/22 | chr18 | 5396490 | ||||||
| chr18:5396493
|
GTCTCCTG others(3): Show |
G | 3 | a0001c0001t0005g0168a0003c0004t0005g0107a0009c0023t0005g0014 | 3 | HG00733.hp2 HG03654.hp2 HG03704.hp1 |
intron_variant | MODIFIER | c.2842-171_2842-162d others(12): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 18/22 | chr18 | 5396493 | ||||||
| chr18:5396506
|
T | A | 3 | a0001c0001t0005g0168a0003c0004t0005g0107a0009c0023t0005g0014 | 3 | HG00733.hp2 HG03654.hp2 HG03704.hp1 |
intron_variant | MODIFIER | c.2842-174A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 18/22 | chr18 | 5396506 | ||||||
| chr18:5396507
|
C | T | 3 | a0001c0001t0005g0168a0003c0004t0005g0107a0009c0023t0005g0014 | 3 | HG00733.hp2 HG03654.hp2 HG03704.hp1 |
intron_variant | MODIFIER | c.2842-175G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 18/22 | chr18 | 5396507 | ||||||
| chr18:5396514
|
C | T | 20 | a0001c0001t0002g0018a0001c0001t0002g0055a0001c0001t0002g0058others(17): Show | 20 | HG00733.hp2 HG00735.hp2 HG01106.hp1 others(17): Show |
intron_variant | MODIFIER | c.2842-182G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 18/22 | chr18 | 5396514 | ||||||
| chr18:5396574
|
C | A | 10 | a0001c0001t0002g0055a0001c0001t0002g0058a0001c0001t0002g0094others(7): Show | 10 | HG00735.hp2 HG01106.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.2842-242G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 18/22 | chr18 | 5396574 | ||||||
| chr18:5396643
|
T | C | 10 | a0001c0001t0002g0055a0001c0001t0002g0058a0001c0001t0002g0094others(7): Show | 10 | HG00735.hp2 HG01106.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.2842-311A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 18/22 | chr18 | 5396643 | ||||||
| chr18:5396718
|
G | C | 2 | a0001c0002t0001g0026a0001c0002t0001g0215 | 2 | HG02622.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.2841+340C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 18/22 | chr18 | 5396718 | ||||||
| chr18:5396830
|
G | A | 3 | a0001c0001t0007g0065a0003c0010t0007g0074a0003c0010t0007g0187 | 3 | HG02559.hp2 HG02723.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.2841+228C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 18/22 | chr18 | 5396830 | ||||||
| chr18:5396865
|
C | T | 1 | a0001c0002t0010g0031 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2841+193G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 18/22 | chr18 | 5396865 | ||||||
| chr18:5396937
|
T | C | 44 | a0001c0001t0002g0011a0001c0001t0002g0018a0001c0001t0002g0055others(41): Show | 44 | HG00735.hp2 HG01169.hp1 HG01243.hp1 others(41): Show |
intron_variant | MODIFIER | c.2841+121A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 18/22 | chr18 | 5396937 | ||||||
| chr18:5396977
|
C | T | 3 | a0001c0001t0001g0004a0001c0001t0001g0019a0001c0001t0001g0144 | 3 | HG01169.hp2 HG01255.hp2 HG03017.hp1 |
intron_variant | MODIFIER | c.2841+81G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 18/22 | chr18 | 5396977 | ||||||
| chr18:5397017
|
GTTTTA | G | 16 | a0001c0001t0002g0015a0001c0001t0002g0058a0001c0001t0002g0086others(13): Show | 16 | HG01106.hp1 HG01175.hp2 HG01891.hp2 others(13): Show |
intron_variant | MODIFIER | c.2841+36_2841+40del others(5): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 18/22 | chr18 | 5397017 | ||||||
| chr18:5397553
|
G | A | 2 | a0001c0001t0001g0061a0001c0001t0001g0105 | 2 | HG00408.hp1 NA19063.hp1 |
intron_variant | MODIFIER | c.2473-127C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 17/22 | chr18 | 5397553 | ||||||
| chr18:5397666
|
G | A | 4 | a0001c0002t0002g0012a0001c0002t0002g0047a0001c0002t0002g0073others(1): Show | 4 | HG02109.hp2 HG03130.hp1 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.2473-240C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 17/22 | chr18 | 5397666 | ||||||
| chr18:5397889
|
A | G | 2 | a0001c0001t0001g0118a0001c0001t0001g0121 | 2 | NA19007.hp2 NA19057.hp1 |
intron_variant | MODIFIER | c.2472+132T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 17/22 | chr18 | 5397889 | ||||||
| chr18:5398191
|
A | G | 1 | a0001c0001t0002g0094 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.2350-48T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5398191 | ||||||
| chr18:5398395
|
C | T | 4 | a0001c0001t0001g0135a0001c0001t0001g0182a0001c0001t0001g0183others(1): Show | 4 | NA18942.hp2 NA18986.hp2 NA19007.hp1 others(1): Show |
intron_variant | MODIFIER | c.2350-252G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5398395 | ||||||
| chr18:5398732
|
G | A | 1 | a0001c0002t0002g0157 | 1 | NA18965.hp2 | intron_variant | MODIFIER | c.2350-589C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5398732 | ||||||
| chr18:5398752
|
G | T | 4 | a0002c0003t0002g0036a0003c0004t0005g0005a0003c0004t0005g0062others(1): Show | 4 | HG02257.hp2 HG02572.hp2 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.2350-609C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5398752 | ||||||
| chr18:5398771
|
T | C | 11 | a0001c0001t0002g0058a0001c0001t0002g0086a0001c0001t0002g0176others(8): Show | 11 | HG01175.hp2 HG02257.hp2 HG02258.hp2 others(8): Show |
intron_variant | MODIFIER | c.2350-628A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5398771 | ||||||
| chr18:5398952
|
G | A | 1 | a0001c0001t0001g0133 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2350-809C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5398952 | ||||||
| chr18:5398970
|
C | G | 23 | a0001c0002t0002g0008a0001c0002t0002g0012a0001c0002t0002g0016others(20): Show | 23 | HG00735.hp2 HG02109.hp2 HG02145.hp1 others(20): Show |
intron_variant | MODIFIER | c.2350-827G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5398970 | ||||||
| chr18:5398989
|
C | T | 12 | a0001c0001t0002g0011a0001c0001t0002g0055a0001c0001t0002g0094others(9): Show | 12 | HG01106.hp1 HG01891.hp2 HG02109.hp1 others(9): Show |
intron_variant | MODIFIER | c.2350-846G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5398989 | ||||||
| chr18:5399213
|
C | T | 7 | a0001c0001t0002g0058a0001c0001t0002g0086a0001c0001t0002g0176others(4): Show | 7 | HG01175.hp2 HG02258.hp2 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.2350-1070G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5399213 | ||||||
| chr18:5399357
|
C | T | 32 | a0001c0001t0002g0011a0001c0001t0002g0055a0001c0001t0002g0094others(29): Show | 32 | HG01106.hp1 HG01169.hp1 HG01243.hp1 others(29): Show |
intron_variant | MODIFIER | c.2350-1214G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5399357 | ||||||
| chr18:5399439
|
A | G | 1 | a0001c0001t0001g0110 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.2350-1296T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5399439 | ||||||
| chr18:5399661
|
C | T | 2 | a0001c0001t0002g0018a0001c0012t0002g0204 | 2 | HG02486.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.2350-1518G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5399661 | ||||||
| chr18:5399808
|
G | A | 32 | a0001c0001t0002g0011a0001c0001t0002g0055a0001c0001t0002g0094others(29): Show | 32 | HG01106.hp1 HG01169.hp1 HG01243.hp1 others(29): Show |
intron_variant | MODIFIER | c.2350-1665C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5399808 | ||||||
| chr18:5399838
|
T | G | 1 | a0001c0002t0002g0177 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.2350-1695A>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5399838 | ||||||
| chr18:5399864
|
T | C | 10 | a0001c0001t0001g0038a0001c0001t0001g0042a0001c0001t0001g0061others(7): Show | 10 | HG00408.hp1 HG02015.hp2 NA18945.hp2 others(7): Show |
intron_variant | MODIFIER | c.2350-1721A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5399864 | ||||||
| chr18:5399982
|
T | C | 19 | a0001c0002t0001g0161a0001c0002t0002g0022a0001c0002t0002g0029others(16): Show | 19 | HG01169.hp1 HG01952.hp2 HG01981.hp2 others(16): Show |
intron_variant | MODIFIER | c.2350-1839A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5399982 | ||||||
| chr18:5400014
|
AT | A | 60 | a0001c0001t0002g0011a0001c0001t0002g0055a0001c0001t0002g0094others(57): Show | 60 | HG00735.hp2 HG01106.hp1 HG01169.hp1 others(57): Show |
intron_variant | MODIFIER | c.2350-1872delA | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5400014 | ||||||
| chr18:5400056
|
C | T | 1 | a0001c0002t0002g0163 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.2350-1913G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5400056 | ||||||
| chr18:5400071
|
G | A | 1 | a0001c0001t0001g0203 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.2350-1928C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5400071 | ||||||
| chr18:5400127
|
G | A | 14 | a0001c0002t0003g0142a0002c0003t0001g0088a0002c0003t0001g0090others(11): Show | 14 | HG01081.hp1 HG01192.hp1 HG01516.hp1 others(11): Show |
intron_variant | MODIFIER | c.2350-1984C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5400127 | ||||||
| chr18:5400142
|
C | T | 1 | a0001c0001t0001g0114 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.2350-1999G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5400142 | ||||||
| chr18:5400789
|
T | A | 1 | a0001c0001t0001g0106 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.2350-2646A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5400789 | ||||||
| chr18:5401395
|
G | A | 7 | a0001c0001t0002g0058a0001c0001t0002g0086a0001c0001t0002g0176others(4): Show | 7 | HG01175.hp2 HG02258.hp2 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.2350-3252C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5401395 | ||||||
| chr18:5401411
|
A | G | 27 | a0001c0002t0002g0008a0001c0002t0002g0012a0001c0002t0002g0016others(24): Show | 27 | HG00735.hp2 HG02109.hp2 HG02145.hp1 others(24): Show |
intron_variant | MODIFIER | c.2350-3268T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5401411 | ||||||
| chr18:5401483
|
C | T | 1 | a0001c0001t0007g0065 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.2350-3340G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5401483 | ||||||
| chr18:5401586
|
T | A | 14 | a0001c0002t0003g0142a0002c0003t0001g0088a0002c0003t0001g0090others(11): Show | 14 | HG01081.hp1 HG01192.hp1 HG01516.hp1 others(11): Show |
intron_variant | MODIFIER | c.2350-3443A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5401586 | ||||||
| chr18:5401699
|
A | G | 1 | a0004c0006t0011g0070 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.2350-3556T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5401699 | ||||||
| chr18:5401763
|
C | T | 1 | a0001c0001t0001g0114 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.2350-3620G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5401763 | ||||||
| chr18:5401773
|
T | A | 9 | a0001c0001t0002g0011a0001c0001t0002g0055a0001c0001t0002g0094others(6): Show | 9 | HG01106.hp1 HG01891.hp2 HG02109.hp1 others(6): Show |
intron_variant | MODIFIER | c.2350-3630A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5401773 | ||||||
| chr18:5401844
|
T | C | 1 | a0001c0001t0001g0158 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.2350-3701A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5401844 | ||||||
| chr18:5402092
|
C | T | 14 | a0001c0002t0003g0142a0002c0003t0001g0088a0002c0003t0001g0090others(11): Show | 14 | HG01081.hp1 HG01192.hp1 HG01516.hp1 others(11): Show |
intron_variant | MODIFIER | c.2350-3949G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5402092 | ||||||
| chr18:5402225
|
T | C | 1 | a0001c0005t0004g0013 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.2350-4082A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5402225 | ||||||
| chr18:5402252
|
G | A | 1 | a0001c0002t0002g0016 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2350-4109C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5402252 | ||||||
| chr18:5402254
|
A | C | 5 | a0001c0002t0002g0023a0001c0002t0002g0100a0002c0003t0002g0009others(2): Show | 5 | HG01106.hp1 HG01891.hp2 HG02647.hp2 others(2): Show |
intron_variant | MODIFIER | c.2350-4111T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5402254 | ||||||
| chr18:5402267
|
G | A | 7 | a0001c0001t0001g0084a0001c0001t0001g0085a0001c0001t0001g0110others(4): Show | 7 | HG00733.hp1 HG00738.hp1 HG01175.hp1 others(4): Show |
intron_variant | MODIFIER | c.2350-4124C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5402267 | ||||||
| chr18:5402284
|
C | T | 24 | a0001c0002t0001g0041a0001c0002t0001g0161a0001c0002t0002g0022others(21): Show | 24 | HG01169.hp1 HG01243.hp1 HG01952.hp2 others(21): Show |
intron_variant | MODIFIER | c.2350-4141G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5402284 | ||||||
| chr18:5402580
|
CAT | C | 2 | a0005c0007t0001g0189a0005c0007t0001g0190 | 2 | NA18961.hp2 NA18975.hp1 |
intron_variant | MODIFIER | c.2349+4195_2349+419 others(6): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5402580 | ||||||
| chr18:5402936
|
T | A | 4 | a0001c0001t0002g0011a0001c0001t0002g0055a0001c0001t0002g0094others(1): Show | 4 | HG02109.hp1 HG02257.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.2349+3841A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5402936 | ||||||
| chr18:5402967
|
C | T | 14 | a0001c0002t0003g0142a0002c0003t0001g0088a0002c0003t0001g0090others(11): Show | 14 | HG01081.hp1 HG01192.hp1 HG01516.hp1 others(11): Show |
intron_variant | MODIFIER | c.2349+3810G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5402967 | ||||||
| chr18:5403011
|
C | T | 1 | a0001c0001t0002g0055 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.2349+3766G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5403011 | ||||||
| chr18:5403085
|
G | A | 1 | a0002c0003t0006g0112 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.2349+3692C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5403085 | ||||||
| chr18:5403101
|
T | C | 5 | a0001c0002t0002g0023a0001c0002t0002g0100a0002c0003t0002g0009others(2): Show | 5 | HG01106.hp1 HG01891.hp2 HG02647.hp2 others(2): Show |
intron_variant | MODIFIER | c.2349+3676A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5403101 | ||||||
| chr18:5403171
|
C | T | 7 | a0001c0001t0002g0058a0001c0001t0002g0086a0001c0001t0002g0176others(4): Show | 7 | HG01175.hp2 HG02258.hp2 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.2349+3606G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5403171 | ||||||
| chr18:5403207
|
G | C | 7 | a0001c0001t0002g0058a0001c0001t0002g0086a0001c0001t0002g0176others(4): Show | 7 | HG01175.hp2 HG02258.hp2 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.2349+3570C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5403207 | ||||||
| chr18:5403509
|
G | A | 34 | a0001c0001t0002g0011a0001c0001t0002g0055a0001c0001t0002g0094others(31): Show | 34 | HG01106.hp1 HG01169.hp1 HG01243.hp1 others(31): Show |
intron_variant | MODIFIER | c.2349+3268C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5403509 | ||||||
| chr18:5403590
|
C | CA | 32 | a0001c0001t0002g0058a0001c0001t0002g0086a0001c0001t0002g0176others(29): Show | 32 | HG00735.hp2 HG01175.hp2 HG02109.hp2 others(29): Show |
intron_variant | MODIFIER | c.2349+3186dupT | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5403590 | ||||||
| chr18:5403590
|
CA | C | 5 | a0001c0001t0002g0011a0001c0001t0002g0055a0001c0001t0002g0094others(2): Show | 5 | HG02109.hp1 HG02257.hp1 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.2349+3186delT | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5403590 | ||||||
| chr18:5403600
|
A | AC | 2 | a0001c0002t0002g0185a0001c0002t0002g0186 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2349+3176_2349+317 others(5): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5403600 | ||||||
| chr18:5403604
|
A | C | 1 | a0001c0001t0002g0055 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.2349+3173T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5403604 | ||||||
| chr18:5403739
|
T | C | 3 | a0004c0006t0002g0072a0004c0006t0002g0092a0004c0006t0002g0200 | 3 | HG01175.hp2 HG02258.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.2349+3038A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5403739 | ||||||
| chr18:5403794
|
C | A | 7 | a0001c0001t0002g0058a0001c0001t0002g0086a0001c0001t0002g0176others(4): Show | 7 | HG01175.hp2 HG02258.hp2 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.2349+2983G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5403794 | ||||||
| chr18:5404151
|
T | C | 41 | a0001c0001t0002g0011a0001c0001t0002g0055a0001c0001t0002g0058others(38): Show | 41 | HG01106.hp1 HG01169.hp1 HG01175.hp2 others(38): Show |
intron_variant | MODIFIER | c.2349+2626A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5404151 | ||||||
| chr18:5404191
|
C | T | 7 | a0001c0001t0002g0058a0001c0001t0002g0086a0001c0001t0002g0176others(4): Show | 7 | HG01175.hp2 HG02258.hp2 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.2349+2586G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5404191 | ||||||
| chr18:5404340
|
A | G | 194 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(191): Show | 194 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(191): Show |
intron_variant | MODIFIER | c.2349+2437T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5404340 | ||||||
| chr18:5404358
|
C | T | 19 | a0001c0002t0001g0161a0001c0002t0002g0022a0001c0002t0002g0023others(16): Show | 19 | HG01106.hp1 HG01169.hp1 HG01891.hp2 others(16): Show |
intron_variant | MODIFIER | c.2349+2419G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5404358 | ||||||
| chr18:5404480
|
G | C | 205 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(202): Show | 205 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(202): Show |
intron_variant | MODIFIER | c.2349+2297C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5404480 | ||||||
| chr18:5404544
|
C | A | 13 | a0002c0003t0001g0088a0002c0003t0001g0090a0002c0003t0001g0102others(10): Show | 13 | HG01081.hp1 HG01192.hp1 HG01516.hp1 others(10): Show |
intron_variant | MODIFIER | c.2349+2233G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5404544 | ||||||
| chr18:5404660
|
T | C | 13 | a0001c0001t0002g0011a0001c0001t0002g0055a0001c0001t0002g0058others(10): Show | 13 | HG01175.hp2 HG02109.hp1 HG02257.hp1 others(10): Show |
intron_variant | MODIFIER | c.2349+2117A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5404660 | ||||||
| chr18:5404725
|
A | G | 1 | a0001c0001t0001g0217 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.2349+2052T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5404725 | ||||||
| chr18:5404728
|
G | C | 1 | a0001c0001t0001g0105 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2349+2049C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5404728 | ||||||
| chr18:5404776
|
T | G | 34 | a0001c0001t0002g0011a0001c0001t0002g0055a0001c0001t0002g0094others(31): Show | 34 | HG01106.hp1 HG01169.hp1 HG01243.hp1 others(31): Show |
intron_variant | MODIFIER | c.2349+2001A>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5404776 | ||||||
| chr18:5405110
|
G | A | 1 | a0001c0001t0001g0195 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.2349+1667C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5405110 | ||||||
| chr18:5405327
|
C | A | 205 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(202): Show | 205 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(202): Show |
intron_variant | MODIFIER | c.2349+1450G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5405327 | ||||||
| chr18:5405399
|
G | T | 204 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(201): Show | 204 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(201): Show |
intron_variant | MODIFIER | c.2349+1378C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5405399 | ||||||
| chr18:5405419
|
A | G | 1 | a0001c0001t0007g0065 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.2349+1358T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5405419 | ||||||
| chr18:5405546
|
C | CT | 23 | a0001c0002t0001g0041a0001c0002t0001g0161a0001c0002t0002g0022others(20): Show | 23 | HG01169.hp1 HG01243.hp1 HG01952.hp2 others(20): Show |
intron_variant | MODIFIER | c.2349+1230dupA | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5405546 | ||||||
| chr18:5405614
|
ATCCCACT others(5): Show |
A | 2 | a0001c0001t0002g0018a0001c0012t0002g0204 | 2 | HG02486.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.2349+1151_2349+116 others(16): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5405614 | ||||||
| chr18:5405626
|
T | C | 4 | a0001c0001t0002g0011a0001c0001t0002g0055a0001c0001t0002g0094others(1): Show | 4 | HG02109.hp1 HG02257.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.2349+1151A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5405626 | ||||||
| chr18:5405665
|
G | A | 7 | a0001c0001t0001g0010a0001c0001t0001g0034a0001c0001t0001g0051others(4): Show | 7 | HG01884.hp2 HG02622.hp2 HG02809.hp1 others(4): Show |
intron_variant | MODIFIER | c.2349+1112C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5405665 | ||||||
| chr18:5405684
|
C | T | 1 | a0001c0001t0001g0197 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.2349+1093G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5405684 | ||||||
| chr18:5405724
|
G | A | 1 | a0001c0001t0006g0202 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.2349+1053C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5405724 | ||||||
| chr18:5405767
|
C | T | 14 | a0001c0002t0003g0142a0002c0003t0001g0088a0002c0003t0001g0090others(11): Show | 14 | HG01081.hp1 HG01192.hp1 HG01516.hp1 others(11): Show |
intron_variant | MODIFIER | c.2349+1010G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5405767 | ||||||
| chr18:5405777
|
A | AAAAC | 29 | a0001c0002t0001g0041a0001c0002t0001g0161a0001c0002t0002g0022others(26): Show | 29 | HG01106.hp1 HG01169.hp1 HG01243.hp1 others(26): Show |
intron_variant | MODIFIER | c.2349+996_2349+999d others(6): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5405777 | ||||||
| chr18:5405820
|
CA | C | 44 | a0001c0001t0002g0011a0001c0001t0002g0018a0001c0001t0002g0055others(41): Show | 44 | HG01081.hp1 HG01169.hp1 HG01192.hp1 others(41): Show |
intron_variant | MODIFIER | c.2349+956delT | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5405820 | ||||||
| chr18:5405820
|
CAA | C | 150 | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0017others(147): Show | 150 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(147): Show |
intron_variant | MODIFIER | c.2349+955_2349+956d others(4): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5405820 | ||||||
| chr18:5405820
|
CAAA | C | 7 | a0001c0001t0001g0004a0001c0001t0001g0141a0001c0001t0001g0144others(4): Show | 7 | HG00735.hp1 HG01255.hp1 HG01255.hp2 others(4): Show |
intron_variant | MODIFIER | c.2349+954_2349+956d others(5): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5405820 | ||||||
| chr18:5405837
|
C | A | 1 | a0001c0001t0001g0133 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2349+940G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5405837 | ||||||
| chr18:5405878
|
TA | T | 15 | a0001c0002t0002g0033a0001c0002t0003g0142a0002c0003t0001g0088others(12): Show | 15 | HG01081.hp1 HG01192.hp1 HG01516.hp1 others(12): Show |
intron_variant | MODIFIER | c.2349+898delT | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5405878 | ||||||
| chr18:5405954
|
G | A | 2 | a0003c0004t0002g0007a0003c0004t0002g0173 | 2 | HG02647.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.2349+823C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5405954 | ||||||
| chr18:5406013
|
A | G | 4 | a0001c0001t0002g0011a0001c0001t0002g0055a0001c0001t0002g0094others(1): Show | 4 | HG02109.hp1 HG02257.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.2349+764T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5406013 | ||||||
| chr18:5406036
|
G | C | 211 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(208): Show | 211 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(208): Show |
intron_variant | MODIFIER | c.2349+741C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5406036 | ||||||
| chr18:5406135
|
C | T | 1 | a0001c0002t0010g0031 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2349+642G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5406135 | ||||||
| chr18:5406277
|
T | C | 1 | a0003c0004t0002g0150 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.2349+500A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5406277 | ||||||
| chr18:5406588
|
A | C | 1 | a0001c0001t0001g0162 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.2349+189T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5406588 | ||||||
| chr18:5406735
|
G | A | 1 | a0001c0002t0010g0031 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2349+42C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 16/22 | chr18 | 5406735 | ||||||
| chr18:5407053
|
T | C | 1 | a0001c0001t0001g0218 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.2158-85A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 15/22 | chr18 | 5407053 | ||||||
| chr18:5407151
|
A | G | 14 | a0001c0002t0003g0142a0002c0003t0001g0088a0002c0003t0001g0090others(11): Show | 14 | HG01081.hp1 HG01192.hp1 HG01516.hp1 others(11): Show |
intron_variant | MODIFIER | c.2158-183T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 15/22 | chr18 | 5407151 | ||||||
| chr18:5407185
|
G | A | 190 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(187): Show | 190 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(187): Show |
intron_variant | MODIFIER | c.2158-217C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 15/22 | chr18 | 5407185 | ||||||
| chr18:5407366
|
C | T | 14 | a0001c0001t0002g0011a0001c0001t0002g0018a0001c0001t0002g0055others(11): Show | 14 | HG01175.hp2 HG02109.hp1 HG02257.hp1 others(11): Show |
intron_variant | MODIFIER | c.2157+335G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 15/22 | chr18 | 5407366 | ||||||
| chr18:5407535
|
A | G | 7 | a0001c0001t0002g0058a0001c0001t0002g0086a0001c0001t0002g0176others(4): Show | 7 | HG01175.hp2 HG02258.hp2 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.2157+166T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 15/22 | chr18 | 5407535 | ||||||
| chr18:5407811
|
CA | C | 4 | a0001c0002t0002g0012a0001c0002t0002g0047a0001c0002t0002g0073others(1): Show | 4 | HG02109.hp2 HG03130.hp1 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.2122-76delT | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 14/22 | chr18 | 5407811 | ||||||
| chr18:5407840
|
C | T | 121 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(118): Show | 121 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(118): Show |
intron_variant | MODIFIER | c.2122-104G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 14/22 | chr18 | 5407840 | ||||||
| chr18:5407912
|
A | G | 193 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(190): Show | 193 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(190): Show |
intron_variant | MODIFIER | c.2122-176T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 14/22 | chr18 | 5407912 | ||||||
| chr18:5407967
|
A | G | 7 | a0001c0001t0002g0011a0001c0001t0002g0018a0001c0001t0002g0055others(4): Show | 7 | HG02109.hp1 HG02257.hp1 HG02258.hp1 others(4): Show |
intron_variant | MODIFIER | c.2122-231T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 14/22 | chr18 | 5407967 | ||||||
| chr18:5408080
|
A | C | 1 | a0001c0001t0007g0065 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.2122-344T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 14/22 | chr18 | 5408080 | ||||||
| chr18:5408089
|
G | A | 4 | a0001c0002t0002g0049a0001c0002t0002g0131a0001c0002t0002g0170others(1): Show | 4 | HG01243.hp2 HG01891.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.2122-353C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 14/22 | chr18 | 5408089 | ||||||
| chr18:5408132
|
A | T | 5 | a0001c0001t0002g0011a0001c0001t0002g0055a0001c0001t0002g0094others(2): Show | 5 | HG02109.hp1 HG02257.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2122-396T>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 14/22 | chr18 | 5408132 | ||||||
| chr18:5408221
|
G | A | 5 | a0001c0001t0002g0011a0001c0001t0002g0055a0001c0001t0002g0094others(2): Show | 5 | HG02109.hp1 HG02257.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2122-485C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 14/22 | chr18 | 5408221 | ||||||
| chr18:5408273
|
C | CT | 41 | a0001c0002t0002g0008a0001c0002t0002g0012a0001c0002t0002g0016others(38): Show | 41 | HG00735.hp2 HG01081.hp1 HG01192.hp1 others(38): Show |
intron_variant | MODIFIER | c.2122-538dupA | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 14/22 | chr18 | 5408273 | ||||||
| chr18:5408273
|
C | CTTT | 7 | a0001c0001t0002g0058a0001c0001t0002g0086a0001c0001t0002g0176others(4): Show | 7 | HG01175.hp2 HG02258.hp2 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.2122-540_2122-538d others(5): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 14/22 | chr18 | 5408273 | ||||||
| chr18:5408276
|
T | TC | 120 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(117): Show | 120 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(117): Show |
intron_variant | MODIFIER | c.2122-541_2122-540i others(3): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 14/22 | chr18 | 5408276 | ||||||
| chr18:5408291
|
T | G | 5 | a0001c0001t0002g0011a0001c0001t0002g0055a0001c0001t0002g0094others(2): Show | 5 | HG02109.hp1 HG02257.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2122-555A>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 14/22 | chr18 | 5408291 | ||||||
| chr18:5408566
|
C | T | 3 | a0001c0001t0007g0065a0003c0010t0007g0074a0003c0010t0007g0187 | 3 | HG02559.hp2 HG02723.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.2122-830G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 14/22 | chr18 | 5408566 | ||||||
| chr18:5408581
|
C | A | 3 | a0001c0001t0001g0117a0001c0001t0001g0118a0001c0001t0001g0121 | 3 | NA18945.hp2 NA19007.hp2 NA19057.hp1 |
intron_variant | MODIFIER | c.2122-845G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 14/22 | chr18 | 5408581 | ||||||
| chr18:5408643
|
A | G | 5 | a0001c0001t0001g0061a0001c0001t0001g0135a0001c0001t0001g0182others(2): Show | 5 | NA18942.hp2 NA18986.hp2 NA19007.hp1 others(2): Show |
intron_variant | MODIFIER | c.2122-907T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 14/22 | chr18 | 5408643 | ||||||
| chr18:5408646
|
GT | G | 18 | a0001c0001t0001g0104a0001c0002t0002g0157a0001c0002t0002g0186others(15): Show | 18 | HG01081.hp1 HG01192.hp1 HG01516.hp1 others(15): Show |
intron_variant | MODIFIER | c.2122-911delA | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 14/22 | chr18 | 5408646 | ||||||
| chr18:5408648
|
T | TG | 2 | a0001c0001t0002g0018a0001c0012t0002g0204 | 2 | HG02486.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.2122-913_2122-912i others(3): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 14/22 | chr18 | 5408648 | ||||||
| chr18:5408815
|
T | G | 189 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(186): Show | 189 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(186): Show |
intron_variant | MODIFIER | c.2122-1079A>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 14/22 | chr18 | 5408815 | ||||||
| chr18:5408998
|
C | A | 153 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(150): Show | 153 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(150): Show |
intron_variant | MODIFIER | c.2122-1262G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 14/22 | chr18 | 5408998 | ||||||
| chr18:5409026
|
T | G | 4 | a0001c0002t0002g0023a0002c0003t0002g0009a0002c0003t0002g0174others(1): Show | 4 | HG01106.hp1 HG01891.hp2 HG02647.hp2 others(1): Show |
intron_variant | MODIFIER | c.2122-1290A>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 14/22 | chr18 | 5409026 | ||||||
| chr18:5409102
|
G | C | 1 | a0001c0001t0007g0065 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.2122-1366C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 14/22 | chr18 | 5409102 | ||||||
| chr18:5409107
|
G | T | 1 | a0001c0001t0001g0194 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.2122-1371C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 14/22 | chr18 | 5409107 | ||||||
| chr18:5409209
|
T | C | 126 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(123): Show | 126 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(123): Show |
intron_variant | MODIFIER | c.2121+1357A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 14/22 | chr18 | 5409209 | ||||||
| chr18:5409239
|
G | A | 1 | a0001c0001t0001g0017 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.2121+1327C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 14/22 | chr18 | 5409239 | ||||||
| chr18:5409680
|
A | C | 183 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(180): Show | 183 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(180): Show |
intron_variant | MODIFIER | c.2121+886T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 14/22 | chr18 | 5409680 | ||||||
| chr18:5409712
|
C | CA | 28 | a0001c0001t0001g0104a0001c0002t0002g0008a0001c0002t0002g0012others(25): Show | 28 | HG00735.hp2 HG01884.hp1 HG02109.hp2 others(25): Show |
intron_variant | MODIFIER | c.2121+853dupT | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 14/22 | chr18 | 5409712 | ||||||
| chr18:5409712
|
C | CAA | 128 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(125): Show | 128 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(125): Show |
intron_variant | MODIFIER | c.2121+852_2121+853d others(4): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 14/22 | chr18 | 5409712 | ||||||
| chr18:5409712
|
C | CAAA | 24 | a0001c0001t0002g0058a0001c0001t0002g0086a0001c0001t0002g0176others(21): Show | 24 | HG01169.hp1 HG01175.hp2 HG01243.hp1 others(21): Show |
intron_variant | MODIFIER | c.2121+851_2121+853d others(5): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 14/22 | chr18 | 5409712 | ||||||
| chr18:5410040
|
G | T | 3 | a0001c0002t0002g0006a0001c0002t0002g0035a0001c0002t0002g0132 | 3 | HG01081.hp2 HG02818.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.2121+526C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 14/22 | chr18 | 5410040 | ||||||
| chr18:5410136
|
A | C | 61 | a0001c0001t0002g0058a0001c0001t0002g0086a0001c0001t0002g0176others(58): Show | 61 | HG00735.hp2 HG01169.hp1 HG01175.hp2 others(58): Show |
intron_variant | MODIFIER | c.2121+430T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 14/22 | chr18 | 5410136 | ||||||
| chr18:5410156
|
C | T | 30 | a0001c0002t0002g0008a0001c0002t0002g0012a0001c0002t0002g0016others(27): Show | 30 | HG00735.hp2 HG01884.hp1 HG02109.hp2 others(27): Show |
intron_variant | MODIFIER | c.2121+410G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 14/22 | chr18 | 5410156 | ||||||
| chr18:5410217
|
T | TA | 31 | a0001c0002t0002g0008a0001c0002t0002g0012a0001c0002t0002g0016others(28): Show | 31 | HG00735.hp2 HG01884.hp1 HG02109.hp2 others(28): Show |
intron_variant | MODIFIER | c.2121+348dupT | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 14/22 | chr18 | 5410217 | ||||||
| chr18:5410267
|
T | C | 7 | a0001c0001t0002g0058a0001c0001t0002g0086a0001c0001t0002g0176others(4): Show | 7 | HG01175.hp2 HG02258.hp2 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.2121+299A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 14/22 | chr18 | 5410267 | ||||||
| chr18:5410527
|
G | A | 2 | a0001c0002t0002g0185a0001c0002t0002g0186 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2121+39C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 14/22 | chr18 | 5410527 | ||||||
| chr18:5410750
|
C | T | 30 | a0001c0001t0002g0058a0001c0001t0002g0086a0001c0001t0002g0176others(27): Show | 30 | HG01169.hp1 HG01175.hp2 HG01243.hp1 others(27): Show |
intron_variant | MODIFIER | c.2068-131G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5410750 | ||||||
| chr18:5411043
|
A | G | 1 | a0001c0001t0007g0065 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.2068-424T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5411043 | ||||||
| chr18:5411240
|
C | T | 182 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(179): Show | 182 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(179): Show |
intron_variant | MODIFIER | c.2068-621G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5411240 | ||||||
| chr18:5411322
|
A | G | 150 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(147): Show | 150 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(147): Show |
intron_variant | MODIFIER | c.2068-703T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5411322 | ||||||
| chr18:5411652
|
T | TGTGATTA others(303): Show |
2 | a0001c0002t0002g0047a0001c0002t0002g0073 | 2 | HG02109.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.2068-1034_2068-103 others(314): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5411652 | ||||||
| chr18:5411652
|
T | TGTGATTA others(303): Show |
2 | a0001c0002t0002g0039a0001c0002t0002g0100 | 2 | HG03139.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.2068-1034_2068-103 others(314): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5411652 | ||||||
| chr18:5411652
|
T | TGTGATTA others(303): Show |
5 | a0001c0002t0002g0008a0001c0002t0002g0027a0001c0002t0002g0028others(2): Show | 5 | HG01884.hp1 HG02451.hp1 HG02451.hp2 others(2): Show |
intron_variant | MODIFIER | c.2068-1034_2068-103 others(314): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5411652 | ||||||
| chr18:5411652
|
T | TGTGATTA others(303): Show |
2 | a0001c0002t0002g0012a0001c0002t0002g0221 | 2 | HG03130.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.2068-1034_2068-103 others(314): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5411652 | ||||||
| chr18:5411652
|
T | TGTGATTA others(303): Show |
15 | a0001c0002t0002g0040a0001c0002t0002g0056a0001c0002t0002g0059others(12): Show | 15 | HG00735.hp2 HG02145.hp1 HG02257.hp2 others(12): Show |
intron_variant | MODIFIER | c.2068-1034_2068-103 others(314): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5411652 | ||||||
| chr18:5411652
|
T | TGTGATTA others(303): Show |
1 | a0001c0002t0002g0016 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2068-1034_2068-103 others(314): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5411652 | ||||||
| chr18:5411700
|
G | T | 6 | a0001c0001t0002g0011a0001c0001t0002g0055a0001c0001t0002g0094others(3): Show | 6 | HG02109.hp1 HG02257.hp1 HG02280.hp1 others(3): Show |
intron_variant | MODIFIER | c.2068-1081C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5411700 | ||||||
| chr18:5411969
|
G | C | 30 | a0001c0001t0002g0058a0001c0001t0002g0086a0001c0001t0002g0176others(27): Show | 30 | HG01169.hp1 HG01175.hp2 HG01243.hp1 others(27): Show |
intron_variant | MODIFIER | c.2068-1350C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5411969 | ||||||
| chr18:5411995
|
C | T | 1 | a0001c0001t0002g0206 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.2068-1376G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5411995 | ||||||
| chr18:5412019
|
G | A | 21 | a0001c0002t0002g0008a0001c0002t0002g0016a0001c0002t0002g0039others(18): Show | 21 | HG00735.hp2 HG02145.hp1 HG02257.hp2 others(18): Show |
intron_variant | MODIFIER | c.2068-1400C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5412019 | ||||||
| chr18:5412051
|
T | C | 23 | a0001c0002t0001g0041a0001c0002t0001g0161a0001c0002t0002g0022others(20): Show | 23 | HG01169.hp1 HG01243.hp1 HG01952.hp2 others(20): Show |
intron_variant | MODIFIER | c.2068-1432A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5412051 | ||||||
| chr18:5412057
|
T | C | 215 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(212): Show | 215 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(212): Show |
intron_variant | MODIFIER | c.2068-1438A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5412057 | ||||||
| chr18:5412272
|
AC | A | 2 | a0001c0001t0002g0011a0001c0001t0002g0094 | 2 | HG02109.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.2068-1654delG | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5412272 | ||||||
| chr18:5412335
|
G | A | 1 | a0001c0012t0002g0204 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.2068-1716C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5412335 | ||||||
| chr18:5412361
|
G | A | 3 | a0001c0002t0001g0041a0001c0002t0002g0069a0001c0002t0002g0071 | 3 | HG01243.hp1 HG02886.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.2068-1742C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5412361 | ||||||
| chr18:5412427
|
T | C | 18 | a0001c0002t0003g0142a0002c0003t0001g0088a0002c0003t0001g0090others(15): Show | 18 | HG01081.hp1 HG01106.hp1 HG01192.hp1 others(15): Show |
intron_variant | MODIFIER | c.2068-1808A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5412427 | ||||||
| chr18:5412439
|
T | C | 10 | a0001c0001t0002g0011a0001c0001t0002g0018a0001c0001t0002g0055others(7): Show | 10 | HG02109.hp1 HG02109.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.2068-1820A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5412439 | ||||||
| chr18:5412517
|
C | T | 2 | a0001c0001t0001g0199a0001c0012t0002g0204 | 2 | HG02165.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.2068-1898G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5412517 | ||||||
| chr18:5412520
|
G | A | 1 | a0001c0001t0001g0030 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.2068-1901C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5412520 | ||||||
| chr18:5412547
|
G | A | 1 | a0001c0001t0005g0168 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.2068-1928C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5412547 | ||||||
| chr18:5412555
|
T | C | 14 | a0001c0001t0002g0018a0001c0002t0002g0185a0001c0002t0002g0186others(11): Show | 14 | HG00735.hp2 HG02257.hp2 HG02559.hp2 others(11): Show |
intron_variant | MODIFIER | c.2068-1936A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5412555 | ||||||
| chr18:5412574
|
T | A | 7 | a0001c0001t0002g0058a0001c0001t0002g0086a0001c0001t0002g0176others(4): Show | 7 | HG01175.hp2 HG02258.hp2 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.2068-1955A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5412574 | ||||||
| chr18:5412787
|
T | A | 1 | a0001c0002t0012g0067 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.2068-2168A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5412787 | ||||||
| chr18:5412868
|
T | TA | 9 | a0001c0001t0001g0046a0001c0001t0001g0208a0001c0002t0002g0012others(6): Show | 9 | HG00408.hp2 HG02109.hp2 HG02886.hp1 others(6): Show |
intron_variant | MODIFIER | c.2068-2250dupT | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5412868 | ||||||
| chr18:5412868
|
TA | T | 57 | a0001c0001t0001g0104a0001c0001t0002g0018a0001c0001t0002g0055others(54): Show | 57 | HG00735.hp2 HG01081.hp2 HG01106.hp1 others(54): Show |
intron_variant | MODIFIER | c.2068-2250delT | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5412868 | ||||||
| chr18:5412868
|
TAA | T | 31 | a0001c0002t0001g0041a0001c0002t0001g0161a0001c0002t0002g0022others(28): Show | 31 | HG01081.hp1 HG01169.hp1 HG01175.hp2 others(28): Show |
intron_variant | MODIFIER | c.2068-2251_2068-225 others(6): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5412868 | ||||||
| chr18:5412887
|
T | A | 1 | a0011c0021t0002g0171 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2068-2268A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5412887 | ||||||
| chr18:5413021
|
G | C | 199 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(196): Show | 199 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(196): Show |
intron_variant | MODIFIER | c.2068-2402C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5413021 | ||||||
| chr18:5413100
|
A | G | 1 | a0001c0002t0012g0067 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.2068-2481T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5413100 | ||||||
| chr18:5413154
|
A | T | 1 | a0001c0002t0003g0142 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.2068-2535T>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5413154 | ||||||
| chr18:5413228
|
A | C | 1 | a0001c0002t0002g0016 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2067+2590T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5413228 | ||||||
| chr18:5413399
|
T | C | 1 | a0001c0001t0001g0057 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2067+2419A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5413399 | ||||||
| chr18:5413489
|
A | C | 1 | a0001c0001t0002g0018 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.2067+2329T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5413489 | ||||||
| chr18:5413503
|
G | A | 1 | a0001c0001t0001g0017 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.2067+2315C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5413503 | ||||||
| chr18:5413516
|
G | GA | 5 | a0001c0001t0001g0061a0001c0001t0001g0135a0001c0001t0001g0182others(2): Show | 5 | NA18942.hp2 NA18986.hp2 NA19007.hp1 others(2): Show |
intron_variant | MODIFIER | c.2067+2301dupT | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5413516 | ||||||
| chr18:5413707
|
C | T | 1 | a0001c0002t0002g0016 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2067+2111G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5413707 | ||||||
| chr18:5413816
|
T | C | 22 | a0001c0002t0001g0041a0001c0002t0001g0161a0001c0002t0002g0022others(19): Show | 22 | HG01169.hp1 HG01243.hp1 HG01952.hp2 others(19): Show |
intron_variant | MODIFIER | c.2067+2002A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5413816 | ||||||
| chr18:5413917
|
A | G | 3 | a0003c0004t0005g0005a0003c0004t0005g0062a0015c0013t0001g0125 | 3 | HG02257.hp2 HG02922.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.2067+1901T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5413917 | ||||||
| chr18:5413931
|
T | G | 1 | a0001c0001t0001g0154 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.2067+1887A>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5413931 | ||||||
| chr18:5413937
|
A | G | 2 | a0001c0002t0002g0216a0004c0006t0011g0070 | 2 | HG02258.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.2067+1881T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5413937 | ||||||
| chr18:5414034
|
T | G | 2 | a0001c0001t0002g0206a0011c0021t0002g0171 | 2 | HG03041.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.2067+1784A>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5414034 | ||||||
| chr18:5414269
|
G | A | 1 | a0001c0001t0007g0065 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.2067+1549C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5414269 | ||||||
| chr18:5414419
|
AT | A | 32 | a0001c0001t0002g0058a0001c0001t0002g0086a0001c0001t0002g0176others(29): Show | 32 | HG01169.hp1 HG01175.hp2 HG01243.hp1 others(29): Show |
intron_variant | MODIFIER | c.2067+1398delA | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5414419 | ||||||
| chr18:5414420
|
T | A | 1 | a0001c0002t0002g0016 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2067+1398A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5414420 | ||||||
| chr18:5414629
|
A | T | 2 | a0001c0002t0002g0023a0001c0002t0002g0131 | 2 | HG02280.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.2067+1189T>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5414629 | ||||||
| chr18:5414699
|
G | A | 32 | a0001c0001t0002g0058a0001c0001t0002g0086a0001c0001t0002g0176others(29): Show | 32 | HG01169.hp1 HG01175.hp2 HG01243.hp1 others(29): Show |
intron_variant | MODIFIER | c.2067+1119C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5414699 | ||||||
| chr18:5414700
|
C | T | 33 | a0001c0001t0002g0058a0001c0001t0002g0086a0001c0001t0002g0176others(30): Show | 33 | HG01169.hp1 HG01175.hp2 HG01243.hp1 others(30): Show |
intron_variant | MODIFIER | c.2067+1118G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5414700 | ||||||
| chr18:5414710
|
C | T | 1 | a0001c0001t0001g0105 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2067+1108G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5414710 | ||||||
| chr18:5414934
|
T | C | 1 | a0001c0001t0007g0065 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.2067+884A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5414934 | ||||||
| chr18:5414973
|
G | T | 7 | a0001c0001t0002g0058a0001c0001t0002g0086a0001c0001t0002g0176others(4): Show | 7 | HG01175.hp2 HG02258.hp2 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.2067+845C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5414973 | ||||||
| chr18:5414974
|
C | T | 18 | a0001c0002t0003g0142a0002c0003t0001g0088a0002c0003t0001g0090others(15): Show | 18 | HG01081.hp1 HG01106.hp1 HG01192.hp1 others(15): Show |
intron_variant | MODIFIER | c.2067+844G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5414974 | ||||||
| chr18:5414993
|
G | C | 34 | a0001c0001t0002g0011a0001c0001t0002g0018a0001c0001t0002g0055others(31): Show | 34 | HG01169.hp1 HG01243.hp1 HG01952.hp2 others(31): Show |
intron_variant | MODIFIER | c.2067+825C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5414993 | ||||||
| chr18:5415064
|
T | C | 1 | a0001c0002t0002g0016 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2067+754A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5415064 | ||||||
| chr18:5415079
|
T | C | 110 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0017others(107): Show | 110 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(107): Show |
intron_variant | MODIFIER | c.2067+739A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5415079 | ||||||
| chr18:5415104
|
A | G | 1 | a0001c0001t0001g0052 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.2067+714T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5415104 | ||||||
| chr18:5415122
|
T | C | 134 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0017others(131): Show | 134 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(131): Show |
intron_variant | MODIFIER | c.2067+696A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5415122 | ||||||
| chr18:5415185
|
T | C | 1 | a0004c0006t0002g0072 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.2067+633A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5415185 | ||||||
| chr18:5415302
|
G | A | 3 | a0001c0001t0001g0124a0001c0001t0001g0134a0001c0001t0001g0136 | 3 | HG02015.hp1 NA18964.hp1 NA18983.hp1 |
intron_variant | MODIFIER | c.2067+516C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5415302 | ||||||
| chr18:5415396
|
C | T | 1 | a0001c0001t0001g0144 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.2067+422G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5415396 | ||||||
| chr18:5415416
|
T | C | 2 | a0001c0002t0002g0049a0001c0002t0002g0170 | 2 | HG01243.hp2 HG01891.hp1 |
intron_variant | MODIFIER | c.2067+402A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5415416 | ||||||
| chr18:5415502
|
T | C | 17 | a0002c0003t0001g0088a0002c0003t0001g0090a0002c0003t0001g0102others(14): Show | 17 | HG01081.hp1 HG01106.hp1 HG01192.hp1 others(14): Show |
intron_variant | MODIFIER | c.2067+316A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5415502 | ||||||
| chr18:5415572
|
C | T | 2 | a0001c0002t0002g0023a0001c0002t0002g0131 | 2 | HG02280.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.2067+246G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5415572 | ||||||
| chr18:5415794
|
C | T | 1 | a0001c0001t0003g0081 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.2067+24G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 13/22 | chr18 | 5415794 | ||||||
| chr18:5416432
|
G | A | 3 | a0001c0002t0001g0041a0001c0002t0002g0069a0001c0002t0002g0071 | 3 | HG01243.hp1 HG02886.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.1507-54C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 12/22 | chr18 | 5416432 | ||||||
| chr18:5416605
|
C | A | 1 | a0001c0002t0002g0163 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1507-227G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 12/22 | chr18 | 5416605 | ||||||
| chr18:5416679
|
C | A | 51 | a0001c0001t0002g0011a0001c0001t0002g0018a0001c0001t0002g0094others(48): Show | 51 | HG00735.hp2 HG01081.hp1 HG01106.hp1 others(48): Show |
intron_variant | MODIFIER | c.1507-301G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 12/22 | chr18 | 5416679 | ||||||
| chr18:5416872
|
T | C | 2 | a0001c0001t0001g0154a0006c0008t0001g0192 | 2 | HG00323.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.1507-494A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 12/22 | chr18 | 5416872 | ||||||
| chr18:5417182
|
A | G | 1 | a0012c0019t0001g0099 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1507-804T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 12/22 | chr18 | 5417182 | ||||||
| chr18:5417184
|
A | C | 12 | a0001c0001t0001g0021a0001c0001t0001g0024a0001c0001t0001g0030others(9): Show | 12 | HG00673.hp2 HG01074.hp2 HG01106.hp2 others(9): Show |
intron_variant | MODIFIER | c.1507-806T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 12/22 | chr18 | 5417184 | ||||||
| chr18:5417186
|
C | T | 3 | a0004c0006t0002g0072a0004c0006t0002g0092a0004c0006t0002g0200 | 3 | HG01175.hp2 HG02258.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.1507-808G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 12/22 | chr18 | 5417186 | ||||||
| chr18:5417254
|
T | G | 133 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0017others(130): Show | 133 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(130): Show |
intron_variant | MODIFIER | c.1507-876A>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 12/22 | chr18 | 5417254 | ||||||
| chr18:5417260
|
C | T | 1 | a0001c0001t0001g0101 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.1507-882G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 12/22 | chr18 | 5417260 | ||||||
| chr18:5417541
|
C | CGT | 12 | a0001c0002t0002g0130a0003c0004t0002g0007a0003c0004t0002g0098others(9): Show | 12 | HG00735.hp2 HG02257.hp2 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.1507-1165_1507-116 others(6): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 12/22 | chr18 | 5417541 | ||||||
| chr18:5417542
|
G | A | 17 | a0001c0012t0001g0093a0001c0012t0002g0204a0002c0003t0001g0088others(14): Show | 17 | HG01081.hp1 HG01192.hp1 HG01516.hp1 others(14): Show |
intron_variant | MODIFIER | c.1507-1164C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 12/22 | chr18 | 5417542 | ||||||
| chr18:5417641
|
A | T | 128 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0017others(125): Show | 128 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(125): Show |
intron_variant | MODIFIER | c.1507-1263T>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 12/22 | chr18 | 5417641 | ||||||
| chr18:5417645
|
T | C | 2 | a0001c0001t0002g0206a0001c0002t0002g0188 | 2 | HG02965.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.1507-1267A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 12/22 | chr18 | 5417645 | ||||||
| chr18:5417670
|
T | A | 8 | a0001c0001t0002g0011a0001c0001t0002g0094a0001c0002t0002g0012others(5): Show | 8 | HG02109.hp1 HG02109.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.1507-1292A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 12/22 | chr18 | 5417670 | ||||||
| chr18:5417733
|
T | C | 5 | a0001c0012t0001g0093a0001c0012t0002g0204a0004c0006t0002g0072others(2): Show | 5 | HG01175.hp2 HG02258.hp2 HG02486.hp2 others(2): Show |
intron_variant | MODIFIER | c.1507-1355A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 12/22 | chr18 | 5417733 | ||||||
| chr18:5417801
|
C | T | 27 | a0001c0001t0002g0011a0001c0001t0002g0018a0001c0001t0002g0094others(24): Show | 27 | HG01081.hp1 HG01106.hp1 HG01192.hp1 others(24): Show |
intron_variant | MODIFIER | c.1507-1423G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 12/22 | chr18 | 5417801 | ||||||
| chr18:5417864
|
T | C | 27 | a0001c0001t0002g0011a0001c0001t0002g0018a0001c0001t0002g0094others(24): Show | 27 | HG01081.hp1 HG01106.hp1 HG01192.hp1 others(24): Show |
intron_variant | MODIFIER | c.1507-1486A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 12/22 | chr18 | 5417864 | ||||||
| chr18:5417972
|
A | G | 6 | a0001c0012t0001g0093a0001c0012t0002g0204a0004c0006t0002g0072others(3): Show | 6 | HG01175.hp2 HG02258.hp2 HG02486.hp2 others(3): Show |
intron_variant | MODIFIER | c.1507-1594T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 12/22 | chr18 | 5417972 | ||||||
| chr18:5418512
|
T | A | 1 | a0001c0002t0012g0067 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.1506+1199A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 12/22 | chr18 | 5418512 | ||||||
| chr18:5418637
|
A | G | 18 | a0001c0002t0001g0161a0001c0002t0002g0022a0001c0002t0002g0033others(15): Show | 18 | HG01169.hp1 HG01952.hp2 HG01981.hp2 others(15): Show |
intron_variant | MODIFIER | c.1506+1074T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 12/22 | chr18 | 5418637 | ||||||
| chr18:5418666
|
T | C | 19 | a0001c0001t0002g0011a0001c0001t0002g0018a0001c0001t0002g0094others(16): Show | 19 | HG01106.hp1 HG01891.hp2 HG02109.hp1 others(16): Show |
intron_variant | MODIFIER | c.1506+1045A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 12/22 | chr18 | 5418666 | ||||||
| chr18:5418683
|
A | C | 1 | a0001c0001t0001g0195 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.1506+1028T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 12/22 | chr18 | 5418683 | ||||||
| chr18:5418695
|
T | C | 3 | a0001c0012t0001g0093a0001c0012t0002g0204a0011c0021t0002g0171 | 3 | HG02486.hp2 HG02717.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.1506+1016A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 12/22 | chr18 | 5418695 | ||||||
| chr18:5418804
|
G | A | 3 | a0001c0002t0002g0037a0001c0002t0002g0185a0001c0002t0002g0186 | 3 | HG02896.hp1 HG02897.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.1506+907C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 12/22 | chr18 | 5418804 | ||||||
| chr18:5418994
|
C | T | 9 | a0002c0003t0001g0088a0002c0003t0001g0090a0002c0003t0002g0009others(6): Show | 9 | HG01106.hp1 HG01891.hp2 HG02135.hp2 others(6): Show |
intron_variant | MODIFIER | c.1506+717G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 12/22 | chr18 | 5418994 | ||||||
| chr18:5419094
|
G | A | 1 | a0001c0001t0001g0146 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.1506+617C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 12/22 | chr18 | 5419094 | ||||||
| chr18:5419105
|
T | G | 1 | a0001c0001t0002g0123 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.1506+606A>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 12/22 | chr18 | 5419105 | ||||||
| chr18:5419139
|
C | A | 179 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0017others(176): Show | 179 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(176): Show |
intron_variant | MODIFIER | c.1506+572G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 12/22 | chr18 | 5419139 | ||||||
| chr18:5419429
|
G | A | 1 | a0001c0001t0002g0018 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1506+282C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 12/22 | chr18 | 5419429 | ||||||
| chr18:5419568
|
T | C | 18 | a0001c0001t0002g0011a0001c0001t0002g0018a0001c0001t0002g0094others(15): Show | 18 | HG01106.hp1 HG01891.hp2 HG02109.hp1 others(15): Show |
intron_variant | MODIFIER | c.1506+143A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 12/22 | chr18 | 5419568 | ||||||
| chr18:5419658
|
T | C | 18 | a0001c0001t0002g0011a0001c0001t0002g0018a0001c0001t0002g0094others(15): Show | 18 | HG01106.hp1 HG01891.hp2 HG02109.hp1 others(15): Show |
intron_variant | MODIFIER | c.1506+53A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 12/22 | chr18 | 5419658 | ||||||
| chr18:5419968
|
ATAGT | A | 3 | a0001c0002t0002g0037a0001c0002t0002g0185a0001c0002t0002g0186 | 3 | HG02896.hp1 HG02897.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.1340-95_1340-92del others(4): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5419968 | ||||||
| chr18:5420015
|
G | GA | 28 | a0001c0001t0001g0097a0001c0001t0001g0128a0001c0001t0001g0141others(25): Show | 28 | HG00558.hp1 HG00735.hp1 HG01106.hp1 others(25): Show |
intron_variant | MODIFIER | c.1340-139dupT | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5420015 | ||||||
| chr18:5420022
|
A | G | 125 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0017others(122): Show | 125 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(122): Show |
intron_variant | MODIFIER | c.1340-145T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5420022 | ||||||
| chr18:5420097
|
C | T | 18 | a0001c0001t0001g0097a0001c0001t0001g0128a0001c0001t0001g0141others(15): Show | 18 | HG00558.hp1 HG00735.hp1 HG01243.hp2 others(15): Show |
intron_variant | MODIFIER | c.1340-220G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5420097 | ||||||
| chr18:5420233
|
G | A | 12 | a0001c0002t0002g0016a0003c0004t0002g0007a0003c0004t0002g0098others(9): Show | 12 | HG00735.hp2 HG02257.hp2 HG02559.hp2 others(9): Show |
intron_variant | MODIFIER | c.1340-356C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5420233 | ||||||
| chr18:5420308
|
T | C | 1 | a0012c0019t0001g0099 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1340-431A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5420308 | ||||||
| chr18:5420333
|
A | G | 1 | a0001c0001t0001g0019 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.1340-456T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5420333 | ||||||
| chr18:5420560
|
C | A | 12 | a0001c0002t0002g0016a0003c0004t0002g0007a0003c0004t0002g0098others(9): Show | 12 | HG00735.hp2 HG02257.hp2 HG02559.hp2 others(9): Show |
intron_variant | MODIFIER | c.1340-683G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5420560 | ||||||
| chr18:5420628
|
A | G | 4 | a0001c0002t0002g0064a0001c0002t0002g0075a0001c0002t0002g0149others(1): Show | 4 | HG01169.hp1 HG02055.hp2 HG02572.hp1 others(1): Show |
intron_variant | MODIFIER | c.1340-751T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5420628 | ||||||
| chr18:5420836
|
T | C | 1 | a0001c0002t0002g0022 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.1340-959A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5420836 | ||||||
| chr18:5420909
|
T | C | 131 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0017others(128): Show | 131 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(128): Show |
intron_variant | MODIFIER | c.1340-1032A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5420909 | ||||||
| chr18:5420926
|
C | CTCT | 2 | a0001c0001t0001g0077a0001c0001t0006g0202 | 2 | HG01192.hp2 HG02300.hp2 |
intron_variant | MODIFIER | c.1340-1050_1340-104 others(7): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5420926 | ||||||
| chr18:5420928
|
A | T | 2 | a0001c0001t0001g0077a0001c0001t0006g0202 | 2 | HG01192.hp2 HG02300.hp2 |
intron_variant | MODIFIER | c.1340-1051T>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5420928 | ||||||
| chr18:5420930
|
G | T | 2 | a0001c0001t0001g0077a0001c0001t0006g0202 | 2 | HG01192.hp2 HG02300.hp2 |
intron_variant | MODIFIER | c.1340-1053C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5420930 | ||||||
| chr18:5420931
|
A | ATCTC | 2 | a0001c0001t0001g0077a0001c0001t0006g0202 | 2 | HG01192.hp2 HG02300.hp2 |
intron_variant | MODIFIER | c.1340-1055_1340-105 others(8): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5420931 | ||||||
| chr18:5420932
|
C | T | 2 | a0001c0001t0001g0077a0001c0001t0006g0202 | 2 | HG01192.hp2 HG02300.hp2 |
intron_variant | MODIFIER | c.1340-1055G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5420932 | ||||||
| chr18:5420933
|
A | T | 2 | a0001c0001t0001g0077a0001c0001t0006g0202 | 2 | HG01192.hp2 HG02300.hp2 |
intron_variant | MODIFIER | c.1340-1056T>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5420933 | ||||||
| chr18:5420954
|
T | C | 1 | a0001c0002t0002g0029 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.1340-1077A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5420954 | ||||||
| chr18:5421025
|
C | A | 1 | a0001c0001t0001g0219 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.1340-1148G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5421025 | ||||||
| chr18:5421137
|
T | A | 7 | a0001c0001t0001g0097a0001c0001t0001g0128a0001c0001t0001g0141others(4): Show | 7 | HG00735.hp1 HG01255.hp1 HG01258.hp1 others(4): Show |
intron_variant | MODIFIER | c.1340-1260A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5421137 | ||||||
| chr18:5421139
|
A | C | 7 | a0001c0001t0001g0097a0001c0001t0001g0128a0001c0001t0001g0141others(4): Show | 7 | HG00735.hp1 HG01255.hp1 HG01258.hp1 others(4): Show |
intron_variant | MODIFIER | c.1340-1262T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5421139 | ||||||
| chr18:5421173
|
T | G | 1 | a0001c0002t0002g0037 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1340-1296A>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5421173 | ||||||
| chr18:5421307
|
G | GA | 16 | a0001c0001t0001g0097a0001c0001t0001g0128a0001c0001t0001g0141others(13): Show | 16 | HG00558.hp1 HG00735.hp1 HG01243.hp2 others(13): Show |
intron_variant | MODIFIER | c.1340-1431dupT | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5421307 | ||||||
| chr18:5421320
|
C | T | 4 | a0001c0002t0002g0016a0001c0002t0002g0037a0001c0002t0002g0185others(1): Show | 4 | HG02896.hp1 HG02897.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.1340-1443G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5421320 | ||||||
| chr18:5421390
|
C | G | 213 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(210): Show | 213 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(210): Show |
intron_variant | MODIFIER | c.1340-1513G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5421390 | ||||||
| chr18:5421408
|
A | G | 8 | a0001c0002t0002g0022a0001c0002t0002g0064a0001c0002t0002g0075others(5): Show | 8 | HG01169.hp1 HG01952.hp2 HG01981.hp2 others(5): Show |
intron_variant | MODIFIER | c.1340-1531T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5421408 | ||||||
| chr18:5421528
|
T | C | 8 | a0002c0003t0001g0088a0002c0003t0001g0090a0002c0003t0002g0009others(5): Show | 8 | HG01106.hp1 HG01891.hp2 HG02135.hp2 others(5): Show |
intron_variant | MODIFIER | c.1340-1651A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5421528 | ||||||
| chr18:5421598
|
T | C | 1 | a0001c0001t0002g0206 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1340-1721A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5421598 | ||||||
| chr18:5421612
|
T | C | 1 | a0001c0001t0001g0153 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.1340-1735A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5421612 | ||||||
| chr18:5421768
|
T | C | 1 | a0001c0001t0001g0146 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.1339+1610A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5421768 | ||||||
| chr18:5421829
|
C | T | 1 | a0001c0005t0004g0054 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.1339+1549G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5421829 | ||||||
| chr18:5421844
|
C | T | 3 | a0001c0002t0002g0037a0001c0002t0002g0185a0001c0002t0002g0186 | 3 | HG02896.hp1 HG02897.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.1339+1534G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5421844 | ||||||
| chr18:5421899
|
T | C | 27 | a0001c0001t0002g0011a0001c0001t0002g0058a0001c0001t0002g0094others(24): Show | 27 | HG01106.hp1 HG01175.hp2 HG01891.hp2 others(24): Show |
intron_variant | MODIFIER | c.1339+1479A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5421899 | ||||||
| chr18:5422092
|
G | A | 17 | a0001c0001t0001g0097a0001c0001t0001g0128a0001c0001t0001g0141others(14): Show | 17 | HG00558.hp1 HG00735.hp1 HG01243.hp2 others(14): Show |
intron_variant | MODIFIER | c.1339+1286C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5422092 | ||||||
| chr18:5422133
|
G | A | 2 | a0001c0002t0002g0185a0001c0002t0002g0186 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1339+1245C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5422133 | ||||||
| chr18:5422295
|
A | G | 3 | a0001c0002t0002g0037a0001c0002t0002g0185a0001c0002t0002g0186 | 3 | HG02896.hp1 HG02897.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.1339+1083T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5422295 | ||||||
| chr18:5422329
|
G | A | 1 | a0001c0002t0002g0016 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1339+1049C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5422329 | ||||||
| chr18:5422452
|
T | C | 2 | a0001c0002t0002g0023a0001c0002t0002g0131 | 2 | HG02280.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.1339+926A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5422452 | ||||||
| chr18:5422459
|
TTTTG | T | 93 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0017others(90): Show | 93 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(90): Show |
intron_variant | MODIFIER | c.1339+915_1339+918d others(6): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5422459 | ||||||
| chr18:5422510
|
T | C | 3 | a0001c0001t0002g0058a0001c0001t0002g0176a0010c0017t0002g0032 | 3 | HG02630.hp2 HG02976.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.1339+868A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5422510 | ||||||
| chr18:5422594
|
A | C | 1 | a0001c0001t0001g0194 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.1339+784T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5422594 | ||||||
| chr18:5422670
|
A | G | 198 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0017others(195): Show | 198 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(195): Show |
intron_variant | MODIFIER | c.1339+708T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5422670 | ||||||
| chr18:5423238
|
G | C | 9 | a0001c0002t0002g0012a0001c0002t0002g0047a0001c0002t0002g0073others(6): Show | 9 | HG01175.hp2 HG02109.hp2 HG02258.hp1 others(6): Show |
intron_variant | MODIFIER | c.1339+140C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5423238 | ||||||
| chr18:5423278
|
C | T | 1 | a0001c0001t0001g0181 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.1339+100G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5423278 | ||||||
| chr18:5423325
|
C | T | 20 | a0001c0002t0002g0012a0001c0002t0002g0047a0001c0002t0002g0073others(17): Show | 20 | HG00735.hp2 HG01175.hp2 HG02109.hp2 others(17): Show |
intron_variant | MODIFIER | c.1339+53G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5423325 | ||||||
| chr18:5423328
|
TC | T | 2 | a0001c0002t0002g0023a0001c0002t0002g0131 | 2 | HG02280.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.1339+49delG | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 11/22 | chr18 | 5423328 | ||||||
| chr18:5423564
|
T | C | 9 | a0001c0002t0002g0012a0001c0002t0002g0047a0001c0002t0002g0073others(6): Show | 9 | HG01175.hp2 HG02109.hp2 HG02258.hp1 others(6): Show |
intron_variant | MODIFIER | c.1164-11A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 10/22 | chr18 | 5423564 | ||||||
| chr18:5423632
|
A | T | 100 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0017others(97): Show | 100 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(97): Show |
intron_variant | MODIFIER | c.1164-79T>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 10/22 | chr18 | 5423632 | ||||||
| chr18:5423664
|
G | A | 19 | a0001c0002t0002g0012a0001c0002t0002g0023a0001c0002t0002g0047others(16): Show | 19 | HG01106.hp1 HG01175.hp2 HG01891.hp2 others(16): Show |
intron_variant | MODIFIER | c.1164-111C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 10/22 | chr18 | 5423664 | ||||||
| chr18:5423719
|
T | C | 1 | a0001c0001t0001g0218 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.1164-166A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 10/22 | chr18 | 5423719 | ||||||
| chr18:5423732
|
T | C | 8 | a0002c0003t0001g0088a0002c0003t0001g0090a0002c0003t0002g0009others(5): Show | 8 | HG01106.hp1 HG01891.hp2 HG02135.hp2 others(5): Show |
intron_variant | MODIFIER | c.1164-179A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 10/22 | chr18 | 5423732 | ||||||
| chr18:5423942
|
G | A | 3 | a0001c0001t0001g0117a0001c0001t0001g0118a0001c0001t0001g0121 | 3 | NA18945.hp2 NA19007.hp2 NA19057.hp1 |
intron_variant | MODIFIER | c.1163+320C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 10/22 | chr18 | 5423942 | ||||||
| chr18:5423967
|
T | C | 2 | a0001c0001t0002g0206a0001c0002t0002g0188 | 2 | HG02965.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.1163+295A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 10/22 | chr18 | 5423967 | ||||||
| chr18:5424176
|
A | C | 1 | a0001c0001t0001g0162 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.1163+86T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 10/22 | chr18 | 5424176 | ||||||
| chr18:5424368
|
A | C | 1 | a0001c0001t0001g0116 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.1066-9T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 9/22 | chr18 | 5424368 | ||||||
| chr18:5424604
|
T | A | 1 | a0004c0006t0011g0070 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1066-245A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 9/22 | chr18 | 5424604 | ||||||
| chr18:5424635
|
A | G | 1 | a0001c0001t0001g0145 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.1066-276T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 9/22 | chr18 | 5424635 | ||||||
| chr18:5424640
|
G | T | 3 | a0001c0002t0002g0037a0001c0002t0002g0185a0001c0002t0002g0186 | 3 | HG02896.hp1 HG02897.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.1066-281C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 9/22 | chr18 | 5424640 | ||||||
| chr18:5424754
|
A | C | 11 | a0001c0001t0002g0055a0001c0001t0002g0206a0001c0002t0002g0012others(8): Show | 11 | HG01175.hp2 HG02109.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.1066-395T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 9/22 | chr18 | 5424754 | ||||||
| chr18:5424756
|
G | A | 2 | a0001c0012t0001g0093a0001c0012t0002g0204 | 2 | HG02486.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.1066-397C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 9/22 | chr18 | 5424756 | ||||||
| chr18:5424808
|
C | T | 152 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0017others(149): Show | 152 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(149): Show |
intron_variant | MODIFIER | c.1066-449G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 9/22 | chr18 | 5424808 | ||||||
| chr18:5424901
|
G | C | 1 | a0011c0021t0002g0171 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1066-542C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 9/22 | chr18 | 5424901 | ||||||
| chr18:5425087
|
G | C | 1 | a0001c0001t0001g0077 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.1066-728C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 9/22 | chr18 | 5425087 | ||||||
| chr18:5425136
|
A | G | 8 | a0002c0003t0001g0088a0002c0003t0001g0090a0002c0003t0002g0009others(5): Show | 8 | HG01106.hp1 HG01891.hp2 HG02135.hp2 others(5): Show |
intron_variant | MODIFIER | c.1066-777T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 9/22 | chr18 | 5425136 | ||||||
| chr18:5425227
|
T | C | 12 | a0001c0002t0002g0012a0001c0002t0002g0047a0001c0002t0002g0049others(9): Show | 12 | HG01175.hp2 HG01243.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.1066-868A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 9/22 | chr18 | 5425227 | ||||||
| chr18:5425230
|
A | G | 3 | a0001c0002t0002g0037a0001c0002t0002g0185a0001c0002t0002g0186 | 3 | HG02896.hp1 HG02897.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.1066-871T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 9/22 | chr18 | 5425230 | ||||||
| chr18:5425302
|
C | T | 17 | a0001c0002t0001g0161a0001c0002t0002g0022a0001c0002t0002g0023others(14): Show | 17 | HG01169.hp1 HG01952.hp2 HG01981.hp2 others(14): Show |
intron_variant | MODIFIER | c.1066-943G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 9/22 | chr18 | 5425302 | ||||||
| chr18:5425323
|
G | A | 28 | a0001c0002t0001g0161a0001c0002t0002g0022a0001c0002t0002g0023others(25): Show | 28 | HG01106.hp1 HG01169.hp1 HG01243.hp2 others(25): Show |
intron_variant | MODIFIER | c.1066-964C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 9/22 | chr18 | 5425323 | ||||||
| chr18:5425405
|
T | G | 1 | a0001c0002t0002g0156 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.1066-1046A>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 9/22 | chr18 | 5425405 | ||||||
| chr18:5425409
|
C | T | 136 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0017others(133): Show | 136 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(133): Show |
intron_variant | MODIFIER | c.1066-1050G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 9/22 | chr18 | 5425409 | ||||||
| chr18:5425511
|
G | A | 2 | a0001c0002t0002g0049a0001c0002t0002g0170 | 2 | HG01243.hp2 HG01891.hp1 |
intron_variant | MODIFIER | c.1066-1152C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 9/22 | chr18 | 5425511 | ||||||
| chr18:5425573
|
T | C | 2 | a0001c0001t0007g0065a0001c0002t0002g0163 | 2 | HG03209.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1066-1214A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 9/22 | chr18 | 5425573 | ||||||
| chr18:5425736
|
A | G | 1 | a0002c0003t0003g0155 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.1066-1377T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 9/22 | chr18 | 5425736 | ||||||
| chr18:5425835
|
C | T | 1 | a0002c0003t0002g0108 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.1066-1476G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 9/22 | chr18 | 5425835 | ||||||
| chr18:5426029
|
G | A | 1 | a0001c0002t0002g0188 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1066-1670C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 9/22 | chr18 | 5426029 | ||||||
| chr18:5426294
|
T | C | 1 | a0013c0016t0001g0152 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.1066-1935A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 9/22 | chr18 | 5426294 | ||||||
| chr18:5426607
|
G | A | 1 | a0001c0001t0002g0055 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.1065+1706C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 9/22 | chr18 | 5426607 | ||||||
| chr18:5427147
|
G | A | 5 | a0001c0001t0002g0058a0001c0001t0002g0176a0001c0001t0007g0065others(2): Show | 5 | HG02630.hp2 HG02976.hp2 HG03098.hp2 others(2): Show |
intron_variant | MODIFIER | c.1065+1166C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 9/22 | chr18 | 5427147 | ||||||
| chr18:5427214
|
T | A | 5 | a0001c0001t0002g0058a0001c0001t0002g0176a0001c0001t0007g0065others(2): Show | 5 | HG02630.hp2 HG02976.hp2 HG03098.hp2 others(2): Show |
intron_variant | MODIFIER | c.1065+1099A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 9/22 | chr18 | 5427214 | ||||||
| chr18:5427253
|
C | T | 146 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0017others(143): Show | 146 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(143): Show |
intron_variant | MODIFIER | c.1065+1060G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 9/22 | chr18 | 5427253 | ||||||
| chr18:5427277
|
T | C | 1 | a0001c0001t0001g0119 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1065+1036A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 9/22 | chr18 | 5427277 | ||||||
| chr18:5427283
|
T | C | 1 | a0001c0001t0002g0018 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1065+1030A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 9/22 | chr18 | 5427283 | ||||||
| chr18:5427387
|
G | A | 1 | a0001c0002t0003g0142 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.1065+926C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 9/22 | chr18 | 5427387 | ||||||
| chr18:5427505
|
A | AAAAC | 10 | a0001c0001t0001g0043a0003c0004t0002g0007a0003c0004t0002g0098others(7): Show | 10 | HG00735.hp2 HG02257.hp2 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.1065+804_1065+807d others(6): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 9/22 | chr18 | 5427505 | ||||||
| chr18:5427750
|
A | T | 17 | a0001c0002t0001g0161a0001c0002t0002g0022a0001c0002t0002g0033others(14): Show | 17 | HG01952.hp2 HG01981.hp2 HG02055.hp1 others(14): Show |
intron_variant | MODIFIER | c.1065+563T>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 9/22 | chr18 | 5427750 | ||||||
| chr18:5427801
|
A | G | 19 | a0002c0003t0001g0088a0002c0003t0001g0090a0002c0003t0002g0009others(16): Show | 19 | HG00735.hp2 HG01106.hp1 HG01891.hp2 others(16): Show |
intron_variant | MODIFIER | c.1065+512T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 9/22 | chr18 | 5427801 | ||||||
| chr18:5427805
|
G | A | 3 | a0002c0003t0002g0009a0002c0003t0002g0174a0002c0003t0002g0210 | 3 | HG01106.hp1 HG01891.hp2 HG02647.hp2 |
intron_variant | MODIFIER | c.1065+508C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 9/22 | chr18 | 5427805 | ||||||
| chr18:5427903
|
G | T | 2 | a0003c0010t0007g0074a0003c0010t0007g0187 | 2 | HG02559.hp2 HG02723.hp2 |
intron_variant | MODIFIER | c.1065+410C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 9/22 | chr18 | 5427903 | ||||||
| chr18:5428001
|
G | A | 2 | a0001c0002t0002g0023a0001c0002t0002g0131 | 2 | HG02280.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.1065+312C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 9/22 | chr18 | 5428001 | ||||||
| chr18:5428242
|
G | A | 1 | a0006c0008t0001g0068 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1065+71C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 9/22 | chr18 | 5428242 | ||||||
| chr18:5428710
|
C | T | 6 | a0001c0002t0002g0012a0001c0002t0002g0047a0001c0002t0002g0073others(3): Show | 6 | HG02109.hp2 HG02258.hp1 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.913-245G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5428710 | ||||||
| chr18:5428825
|
T | C | 1 | a0001c0002t0002g0177 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.913-360A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5428825 | ||||||
| chr18:5428939
|
C | T | 121 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0021others(118): Show | 121 | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(118): Show |
intron_variant | MODIFIER | c.913-474G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5428939 | ||||||
| chr18:5428944
|
C | A | 19 | a0001c0002t0001g0161a0001c0002t0002g0022a0001c0002t0002g0033others(16): Show | 19 | HG01169.hp1 HG01952.hp2 HG01981.hp2 others(16): Show |
intron_variant | MODIFIER | c.913-479G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5428944 | ||||||
| chr18:5429017
|
T | C | 1 | a0001c0001t0001g0181 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.913-552A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5429017 | ||||||
| chr18:5429188
|
T | C | 2 | a0001c0001t0001g0048a0001c0001t0001g0140 | 2 | HG04228.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.913-723A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5429188 | ||||||
| chr18:5429253
|
T | A | 20 | a0001c0001t0001g0024a0001c0002t0001g0161a0001c0002t0002g0022others(17): Show | 20 | HG01169.hp1 HG01952.hp2 HG01981.hp2 others(17): Show |
intron_variant | MODIFIER | c.913-788A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5429253 | ||||||
| chr18:5429292
|
T | C | 1 | a0001c0002t0002g0149 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.913-827A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5429292 | ||||||
| chr18:5429298
|
T | C | 1 | a0001c0002t0002g0188 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.913-833A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5429298 | ||||||
| chr18:5429531
|
G | A | 1 | a0001c0001t0001g0134 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.913-1066C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5429531 | ||||||
| chr18:5429539
|
T | C | 9 | a0001c0002t0002g0012a0001c0002t0002g0027a0001c0002t0002g0028others(6): Show | 9 | HG01884.hp1 HG02109.hp2 HG02258.hp1 others(6): Show |
intron_variant | MODIFIER | c.913-1074A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5429539 | ||||||
| chr18:5429609
|
T | C | 20 | a0001c0001t0001g0024a0001c0002t0001g0161a0001c0002t0002g0022others(17): Show | 20 | HG01169.hp1 HG01952.hp2 HG01981.hp2 others(17): Show |
intron_variant | MODIFIER | c.913-1144A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5429609 | ||||||
| chr18:5429648
|
G | A | 3 | a0001c0002t0002g0037a0001c0002t0002g0185a0001c0002t0002g0186 | 3 | HG02896.hp1 HG02897.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.913-1183C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5429648 | ||||||
| chr18:5429934
|
C | A | 1 | a0001c0002t0002g0016 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.913-1469G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5429934 | ||||||
| chr18:5429950
|
C | T | 1 | a0002c0014t0002g0196 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.913-1485G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5429950 | ||||||
| chr18:5429951
|
G | C | 50 | a0001c0001t0001g0045a0001c0001t0001g0077a0001c0001t0001g0083others(47): Show | 50 | HG00558.hp1 HG00673.hp1 HG00673.hp2 others(47): Show |
intron_variant | MODIFIER | c.913-1486C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5429951 | ||||||
| chr18:5429956
|
C | G | 1 | a0001c0001t0001g0002 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.913-1491G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5429956 | ||||||
| chr18:5430033
|
T | C | 54 | a0001c0001t0001g0045a0001c0001t0001g0077a0001c0001t0001g0083others(51): Show | 54 | HG00558.hp1 HG00673.hp1 HG00673.hp2 others(51): Show |
intron_variant | MODIFIER | c.913-1568A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5430033 | ||||||
| chr18:5430176
|
C | T | 1 | a0011c0021t0002g0171 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.913-1711G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5430176 | ||||||
| chr18:5430199
|
T | G | 1 | a0001c0001t0002g0055 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.913-1734A>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5430199 | ||||||
| chr18:5430246
|
T | A | 1 | a0001c0001t0002g0206 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.913-1781A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5430246 | ||||||
| chr18:5430557
|
CT | C | 30 | a0001c0001t0001g0017a0001c0001t0001g0019a0001c0001t0001g0043others(27): Show | 30 | HG00323.hp2 HG00733.hp1 HG00738.hp1 others(27): Show |
intron_variant | MODIFIER | c.913-2093delA | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5430557 | ||||||
| chr18:5430711
|
G | A | 2 | a0001c0001t0001g0048a0001c0001t0001g0140 | 2 | HG04228.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.913-2246C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5430711 | ||||||
| chr18:5430949
|
A | G | 1 | a0007c0011t0002g0050 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.913-2484T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5430949 | ||||||
| chr18:5430994
|
T | C | 8 | a0002c0003t0001g0088a0002c0003t0001g0090a0002c0003t0002g0009others(5): Show | 8 | HG01106.hp1 HG01891.hp2 HG02135.hp2 others(5): Show |
intron_variant | MODIFIER | c.912+2475A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5430994 | ||||||
| chr18:5431001
|
G | A | 53 | a0001c0001t0001g0045a0001c0001t0001g0077a0001c0001t0001g0083others(50): Show | 53 | HG00558.hp1 HG00673.hp1 HG00673.hp2 others(50): Show |
intron_variant | MODIFIER | c.912+2468C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5431001 | ||||||
| chr18:5431083
|
C | A | 11 | a0003c0004t0002g0007a0003c0004t0002g0098a0003c0004t0002g0150others(8): Show | 11 | HG00735.hp2 HG02257.hp2 HG02559.hp2 others(8): Show |
intron_variant | MODIFIER | c.912+2386G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5431083 | ||||||
| chr18:5431329
|
C | T | 1 | a0001c0001t0001g0141 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.912+2140G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5431329 | ||||||
| chr18:5431616
|
C | A | 1 | a0001c0001t0005g0168 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.912+1853G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5431616 | ||||||
| chr18:5431617
|
C | G | 1 | a0001c0001t0005g0168 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.912+1852G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5431617 | ||||||
| chr18:5431628
|
A | G | 1 | a0011c0021t0002g0171 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.912+1841T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5431628 | ||||||
| chr18:5432020
|
C | T | 1 | a0001c0001t0001g0167 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.912+1449G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5432020 | ||||||
| chr18:5432070
|
T | C | 1 | a0001c0001t0002g0055 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.912+1399A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5432070 | ||||||
| chr18:5432244
|
C | T | 1 | a0001c0001t0001g0105 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.912+1225G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5432244 | ||||||
| chr18:5432293
|
T | C | 1 | a0001c0001t0002g0018 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.912+1176A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5432293 | ||||||
| chr18:5432330
|
C | T | 1 | a0001c0001t0002g0206 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.912+1139G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5432330 | ||||||
| chr18:5432331
|
G | A | 96 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0017others(93): Show | 96 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(93): Show |
intron_variant | MODIFIER | c.912+1138C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5432331 | ||||||
| chr18:5432398
|
T | C | 3 | a0001c0002t0002g0037a0001c0002t0002g0185a0001c0002t0002g0186 | 3 | HG02896.hp1 HG02897.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.912+1071A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5432398 | ||||||
| chr18:5432548
|
T | G | 1 | a0001c0001t0005g0168 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.912+921A>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5432548 | ||||||
| chr18:5432585
|
T | C | 94 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0017others(91): Show | 94 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(91): Show |
intron_variant | MODIFIER | c.912+884A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5432585 | ||||||
| chr18:5432636
|
T | C | 1 | a0001c0002t0002g0100 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.912+833A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5432636 | ||||||
| chr18:5432979
|
T | C | 202 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0017others(199): Show | 202 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(199): Show |
intron_variant | MODIFIER | c.912+490A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5432979 | ||||||
| chr18:5433012
|
G | A | 160 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0017others(157): Show | 160 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(157): Show |
intron_variant | MODIFIER | c.912+457C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5433012 | ||||||
| chr18:5433056
|
G | A | 1 | a0001c0001t0001g0203 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.912+413C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5433056 | ||||||
| chr18:5433112
|
C | T | 1 | a0001c0002t0002g0222 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.912+357G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5433112 | ||||||
| chr18:5433239
|
G | A | 3 | a0002c0003t0002g0009a0002c0003t0002g0174a0002c0003t0002g0210 | 3 | HG01106.hp1 HG01891.hp2 HG02647.hp2 |
intron_variant | MODIFIER | c.912+230C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 8/22 | chr18 | 5433239 | ||||||
| chr18:5433571
|
A | C | 106 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0017others(103): Show | 106 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(103): Show |
intron_variant | MODIFIER | c.825-15T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 7/22 | chr18 | 5433571 | ||||||
| chr18:5433723
|
C | T | 221 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(218): Show | 221 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(218): Show |
intron_variant | MODIFIER | c.825-167G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 7/22 | chr18 | 5433723 | ||||||
| chr18:5433803
|
G | T | 1 | a0001c0002t0002g0037 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.824+100C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 7/22 | chr18 | 5433803 | ||||||
| chr18:5434196
|
C | T | 45 | a0001c0001t0001g0045a0001c0001t0001g0077a0001c0001t0001g0083others(42): Show | 45 | HG00558.hp1 HG00673.hp1 HG00673.hp2 others(42): Show |
intron_variant | MODIFIER | c.606-75G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5434196 | ||||||
| chr18:5434256
|
T | C | 1 | a0004c0006t0011g0070 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.606-135A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5434256 | ||||||
| chr18:5434290
|
T | C | 40 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0038others(37): Show | 40 | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(37): Show |
intron_variant | MODIFIER | c.606-169A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5434290 | ||||||
| chr18:5434624
|
G | A | 1 | a0001c0001t0001g0154 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.606-503C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5434624 | ||||||
| chr18:5434635
|
C | G | 3 | a0001c0002t0002g0037a0001c0002t0002g0185a0001c0002t0002g0186 | 3 | HG02896.hp1 HG02897.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.606-514G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5434635 | ||||||
| chr18:5434640
|
T | G | 1 | a0011c0021t0002g0171 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.606-519A>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5434640 | ||||||
| chr18:5434664
|
C | T | 1 | a0014c0015t0001g0003 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.606-543G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5434664 | ||||||
| chr18:5434667
|
C | A | 1 | a0001c0001t0001g0048 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.606-546G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5434667 | ||||||
| chr18:5434903
|
C | G | 25 | a0001c0001t0001g0021a0001c0001t0001g0024a0001c0001t0001g0030others(22): Show | 25 | HG01074.hp2 HG01081.hp1 HG01106.hp2 others(22): Show |
intron_variant | MODIFIER | c.606-782G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5434903 | ||||||
| chr18:5435385
|
C | T | 1 | a0001c0002t0002g0006 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.606-1264G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5435385 | ||||||
| chr18:5435811
|
A | G | 2 | a0001c0005t0004g0178a0002c0003t0002g0174 | 2 | HG01106.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.606-1690T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5435811 | ||||||
| chr18:5435854
|
TTTA | T | 12 | a0001c0001t0001g0051a0001c0001t0001g0181a0001c0001t0001g0212others(9): Show | 12 | HG00735.hp2 HG01884.hp2 HG01891.hp2 others(9): Show |
intron_variant | MODIFIER | c.606-1736_606-1734d others(5): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5435854 | ||||||
| chr18:5435859
|
A | C | 12 | a0001c0001t0001g0051a0001c0001t0001g0181a0001c0001t0001g0212others(9): Show | 12 | HG00735.hp2 HG01884.hp2 HG01891.hp2 others(9): Show |
intron_variant | MODIFIER | c.606-1738T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5435859 | ||||||
| chr18:5436006
|
T | C | 1 | a0001c0002t0002g0132 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.606-1885A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5436006 | ||||||
| chr18:5436102
|
A | G | 10 | a0001c0001t0001g0128a0001c0001t0001g0167a0001c0001t0013g0025others(7): Show | 10 | HG00733.hp1 HG01255.hp1 HG01258.hp1 others(7): Show |
intron_variant | MODIFIER | c.605+1933T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5436102 | ||||||
| chr18:5436127
|
G | GT | 5 | a0001c0001t0001g0089a0001c0001t0001g0137a0001c0001t0001g0138others(2): Show | 5 | HG01074.hp2 HG01109.hp2 HG01496.hp2 others(2): Show |
intron_variant | MODIFIER | c.605+1907dupA | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5436127 | ||||||
| chr18:5436195
|
A | G | 3 | a0001c0002t0002g0130a0001c0002t0002g0131a0001c0002t0002g0170 | 3 | HG01891.hp1 HG02280.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.605+1840T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5436195 | ||||||
| chr18:5436204
|
C | T | 2 | a0001c0001t0001g0048a0001c0001t0001g0140 | 2 | HG04228.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.605+1831G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5436204 | ||||||
| chr18:5436211
|
A | G | 3 | a0001c0001t0001g0010a0001c0002t0002g0040a0001c0002t0002g0221 | 3 | HG03130.hp1 NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.605+1824T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5436211 | ||||||
| chr18:5436264
|
G | A | 159 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(156): Show | 159 | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(156): Show |
intron_variant | MODIFIER | c.605+1771C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5436264 | ||||||
| chr18:5436346
|
C | T | 6 | a0001c0001t0013g0025a0001c0002t0002g0008a0001c0002t0002g0016others(3): Show | 6 | HG02055.hp2 HG02451.hp2 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.605+1689G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5436346 | ||||||
| chr18:5436403
|
C | CT | 54 | a0001c0001t0001g0004a0001c0001t0001g0034a0001c0001t0001g0038others(51): Show | 54 | HG00323.hp1 HG00408.hp1 HG00733.hp1 others(51): Show |
intron_variant | MODIFIER | c.605+1631dupA | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5436403 | ||||||
| chr18:5436403
|
CT | C | 13 | a0001c0001t0001g0101a0001c0001t0001g0134a0001c0001t0001g0136others(10): Show | 13 | HG02135.hp1 HG02165.hp2 HG02896.hp2 others(10): Show |
intron_variant | MODIFIER | c.605+1631delA | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5436403 | ||||||
| chr18:5436403
|
CTTTTTTT others(5): Show |
C | 13 | a0001c0001t0001g0051a0001c0001t0001g0139a0001c0001t0007g0065others(10): Show | 13 | HG00673.hp2 HG01106.hp1 HG01243.hp2 others(10): Show |
intron_variant | MODIFIER | c.605+1620_605+1631d others(14): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5436403 | ||||||
| chr18:5436431
|
C | T | 12 | a0001c0001t0001g0051a0001c0001t0007g0065a0001c0002t0002g0049others(9): Show | 12 | HG01106.hp1 HG01243.hp2 HG02258.hp2 others(9): Show |
intron_variant | MODIFIER | c.605+1604G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5436431 | ||||||
| chr18:5436432
|
G | A | 1 | a0001c0001t0002g0018 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.605+1603C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5436432 | ||||||
| chr18:5436487
|
C | T | 6 | a0001c0001t0001g0128a0001c0001t0001g0133a0001c0001t0001g0167others(3): Show | 6 | HG00733.hp1 HG01255.hp1 HG01258.hp1 others(3): Show |
intron_variant | MODIFIER | c.605+1548G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5436487 | ||||||
| chr18:5436495
|
G | A | 1 | a0004c0006t0011g0070 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.605+1540C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5436495 | ||||||
| chr18:5436512
|
C | T | 2 | a0001c0002t0001g0026a0009c0023t0005g0014 | 2 | HG02922.hp2 HG03704.hp1 |
intron_variant | MODIFIER | c.605+1523G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5436512 | ||||||
| chr18:5436520
|
T | C | 1 | a0001c0001t0001g0034 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.605+1515A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5436520 | ||||||
| chr18:5436533
|
T | C | 2 | a0001c0001t0001g0158a0003c0004t0005g0107 | 2 | HG03654.hp2 NA18952.hp1 |
intron_variant | MODIFIER | c.605+1502A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5436533 | ||||||
| chr18:5436692
|
G | A | 1 | a0007c0011t0002g0050 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.605+1343C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5436692 | ||||||
| chr18:5436698
|
G | A | 1 | a0001c0001t0001g0195 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.605+1337C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5436698 | ||||||
| chr18:5436852
|
A | C | 7 | a0001c0001t0001g0128a0001c0001t0001g0133a0001c0001t0001g0167others(4): Show | 7 | HG00733.hp1 HG01255.hp1 HG01258.hp1 others(4): Show |
intron_variant | MODIFIER | c.605+1183T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5436852 | ||||||
| chr18:5436923
|
T | C | 1 | a0001c0002t0002g0164 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.605+1112A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5436923 | ||||||
| chr18:5436986
|
A | G | 16 | a0001c0001t0001g0045a0001c0001t0001g0101a0001c0001t0001g0111others(13): Show | 16 | HG02074.hp1 HG02135.hp1 HG02165.hp2 others(13): Show |
intron_variant | MODIFIER | c.605+1049T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5436986 | ||||||
| chr18:5437007
|
G | A | 2 | a0001c0002t0001g0026a0009c0023t0005g0014 | 2 | HG02922.hp2 HG03704.hp1 |
intron_variant | MODIFIER | c.605+1028C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5437007 | ||||||
| chr18:5437159
|
C | T | 1 | a0001c0002t0002g0037 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.605+876G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5437159 | ||||||
| chr18:5437210
|
T | C | 7 | a0001c0001t0001g0051a0001c0001t0007g0065a0001c0012t0001g0093others(4): Show | 7 | HG01106.hp1 HG02622.hp2 HG02647.hp1 others(4): Show |
intron_variant | MODIFIER | c.605+825A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5437210 | ||||||
| chr18:5437214
|
T | G | 1 | a0009c0023t0005g0014 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.605+821A>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5437214 | ||||||
| chr18:5437319
|
A | G | 16 | a0001c0001t0001g0045a0001c0001t0001g0101a0001c0001t0001g0111others(13): Show | 16 | HG02074.hp1 HG02135.hp1 HG02165.hp2 others(13): Show |
intron_variant | MODIFIER | c.605+716T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5437319 | ||||||
| chr18:5437372
|
A | G | 1 | a0001c0001t0001g0211 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.605+663T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5437372 | ||||||
| chr18:5437416
|
T | C | 6 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(3): Show | 6 | HG02145.hp1 HG02257.hp1 HG02630.hp2 others(3): Show |
intron_variant | MODIFIER | c.605+619A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5437416 | ||||||
| chr18:5437862
|
T | C | 17 | a0001c0001t0001g0045a0001c0001t0001g0101a0001c0001t0001g0111others(14): Show | 17 | HG00738.hp2 HG02074.hp1 HG02135.hp1 others(14): Show |
intron_variant | MODIFIER | c.605+173A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5437862 | ||||||
| chr18:5437962
|
T | TC | 170 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(167): Show | 170 | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(167): Show |
intron_variant | MODIFIER | c.605+72dupG | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5437962 | ||||||
| chr18:5437968
|
C | T | 46 | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0017others(43): Show | 46 | HG00408.hp2 HG00673.hp1 HG00735.hp2 others(43): Show |
intron_variant | MODIFIER | c.605+67G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 6/22 | chr18 | 5437968 | ||||||
| chr18:5438495
|
C | T | 162 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(159): Show | 162 | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(159): Show |
intron_variant | MODIFIER | c.530-385G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5438495 | ||||||
| chr18:5438785
|
C | T | 17 | a0001c0001t0001g0045a0001c0001t0001g0101a0001c0001t0001g0111others(14): Show | 17 | HG00738.hp2 HG02074.hp1 HG02135.hp1 others(14): Show |
intron_variant | MODIFIER | c.530-675G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5438785 | ||||||
| chr18:5438922
|
C | T | 19 | a0001c0001t0001g0181a0001c0001t0001g0212a0001c0001t0001g0213others(16): Show | 19 | HG01243.hp1 HG01884.hp1 HG01884.hp2 others(16): Show |
intron_variant | MODIFIER | c.530-812G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5438922 | ||||||
| chr18:5439128
|
A | G | 15 | a0001c0001t0001g0051a0001c0001t0001g0052a0001c0001t0002g0015others(12): Show | 15 | HG01106.hp1 HG01243.hp2 HG02258.hp2 others(12): Show |
intron_variant | MODIFIER | c.530-1018T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5439128 | ||||||
| chr18:5439197
|
C | G | 1 | a0001c0001t0002g0018 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.530-1087G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5439197 | ||||||
| chr18:5439219
|
C | T | 1 | a0001c0002t0002g0172 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.530-1109G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5439219 | ||||||
| chr18:5439324
|
C | T | 1 | a0001c0001t0002g0018 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.530-1214G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5439324 | ||||||
| chr18:5439391
|
G | C | 1 | a0001c0001t0001g0106 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.530-1281C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5439391 | ||||||
| chr18:5439418
|
G | A | 17 | a0001c0001t0001g0045a0001c0001t0001g0101a0001c0001t0001g0111others(14): Show | 17 | HG00738.hp2 HG02074.hp1 HG02135.hp1 others(14): Show |
intron_variant | MODIFIER | c.530-1308C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5439418 | ||||||
| chr18:5439624
|
A | G | 6 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(3): Show | 6 | HG02145.hp1 HG02257.hp1 HG02630.hp2 others(3): Show |
intron_variant | MODIFIER | c.530-1514T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5439624 | ||||||
| chr18:5439673
|
C | T | 17 | a0001c0001t0001g0045a0001c0001t0001g0101a0001c0001t0001g0111others(14): Show | 17 | HG00738.hp2 HG02074.hp1 HG02135.hp1 others(14): Show |
intron_variant | MODIFIER | c.530-1563G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5439673 | ||||||
| chr18:5440045
|
A | G | 3 | a0001c0002t0002g0130a0001c0002t0002g0131a0001c0002t0002g0170 | 3 | HG01891.hp1 HG02280.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.530-1935T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5440045 | ||||||
| chr18:5440061
|
T | A | 6 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(3): Show | 6 | HG02145.hp1 HG02257.hp1 HG02630.hp2 others(3): Show |
intron_variant | MODIFIER | c.530-1951A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5440061 | ||||||
| chr18:5440118
|
C | T | 17 | a0001c0001t0001g0045a0001c0001t0001g0101a0001c0001t0001g0111others(14): Show | 17 | HG00738.hp2 HG02074.hp1 HG02135.hp1 others(14): Show |
intron_variant | MODIFIER | c.530-2008G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5440118 | ||||||
| chr18:5440235
|
T | C | 1 | a0001c0002t0001g0026 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.530-2125A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5440235 | ||||||
| chr18:5440781
|
T | C | 1 | a0001c0001t0001g0021 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.530-2671A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5440781 | ||||||
| chr18:5440857
|
T | A | 1 | a0001c0002t0002g0047 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.530-2747A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5440857 | ||||||
| chr18:5440913
|
G | A | 76 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(73): Show | 76 | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(73): Show |
intron_variant | MODIFIER | c.530-2803C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5440913 | ||||||
| chr18:5441035
|
T | C | 3 | a0001c0002t0002g0130a0001c0002t0002g0131a0001c0002t0002g0170 | 3 | HG01891.hp1 HG02280.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.529+2803A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5441035 | ||||||
| chr18:5441185
|
A | T | 2 | a0002c0003t0003g0076a0002c0003t0003g0079 | 2 | HG01978.hp1 HG01993.hp1 |
intron_variant | MODIFIER | c.529+2653T>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5441185 | ||||||
| chr18:5441248
|
G | T | 6 | a0001c0001t0001g0128a0001c0001t0001g0133a0001c0001t0001g0167others(3): Show | 6 | HG00733.hp1 HG01255.hp1 HG01258.hp1 others(3): Show |
intron_variant | MODIFIER | c.529+2590C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5441248 | ||||||
| chr18:5441316
|
T | C | 4 | a0001c0002t0001g0026a0001c0002t0002g0008a0001c0002t0002g0164others(1): Show | 4 | HG02451.hp2 HG02922.hp2 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.529+2522A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5441316 | ||||||
| chr18:5441330
|
A | G | 9 | a0001c0001t0001g0051a0001c0001t0007g0065a0001c0002t0002g0100others(6): Show | 9 | HG01106.hp1 HG02622.hp2 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.529+2508T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5441330 | ||||||
| chr18:5441360
|
G | A | 98 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(95): Show | 98 | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(95): Show |
intron_variant | MODIFIER | c.529+2478C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5441360 | ||||||
| chr18:5441462
|
A | AT | 27 | a0001c0001t0001g0051a0001c0001t0001g0057a0001c0001t0001g0181others(24): Show | 27 | HG01106.hp1 HG01243.hp2 HG01884.hp2 others(24): Show |
intron_variant | MODIFIER | c.529+2375dupA | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5441462 | ||||||
| chr18:5441462
|
AT | A | 6 | a0001c0001t0013g0025a0001c0002t0001g0026a0001c0002t0002g0008others(3): Show | 6 | HG02451.hp2 HG02922.hp2 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.529+2375delA | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5441462 | ||||||
| chr18:5441462
|
ATTTTT | A | 106 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(103): Show | 106 | HG00408.hp1 HG00408.hp2 HG00673.hp1 others(103): Show |
intron_variant | MODIFIER | c.529+2371_529+2375d others(7): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5441462 | ||||||
| chr18:5441486
|
C | G | 3 | a0001c0001t0001g0052a0001c0001t0002g0015a0015c0013t0001g0125 | 3 | HG03041.hp1 HG03471.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.529+2352G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5441486 | ||||||
| chr18:5441494
|
T | C | 3 | a0001c0001t0001g0052a0001c0001t0002g0015a0015c0013t0001g0125 | 3 | HG03041.hp1 HG03471.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.529+2344A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5441494 | ||||||
| chr18:5441506
|
C | G | 3 | a0001c0001t0001g0010a0001c0002t0001g0041a0001c0002t0002g0040 | 3 | HG02886.hp2 NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.529+2332G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5441506 | ||||||
| chr18:5441566
|
C | T | 6 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(3): Show | 6 | HG02145.hp1 HG02257.hp1 HG02630.hp2 others(3): Show |
intron_variant | MODIFIER | c.529+2272G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5441566 | ||||||
| chr18:5441590
|
C | T | 1 | a0001c0002t0002g0006 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.529+2248G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5441590 | ||||||
| chr18:5441610
|
C | T | 1 | a0001c0001t0001g0128 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.529+2228G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5441610 | ||||||
| chr18:5441613
|
A | C | 8 | a0001c0001t0001g0181a0001c0001t0001g0212a0001c0001t0001g0213others(5): Show | 8 | HG01884.hp2 HG02486.hp2 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.529+2225T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5441613 | ||||||
| chr18:5441620
|
C | G | 2 | a0001c0001t0013g0025a0001c0002t0002g0016 | 2 | HG04184.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.529+2218G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5441620 | ||||||
| chr18:5441649
|
A | G | 2 | a0001c0001t0013g0025a0001c0002t0002g0016 | 2 | HG04184.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.529+2189T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5441649 | ||||||
| chr18:5441650
|
G | A | 1 | a0001c0001t0001g0109 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.529+2188C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5441650 | ||||||
| chr18:5441655
|
G | A | 2 | a0001c0001t0013g0025a0001c0002t0002g0016 | 2 | HG04184.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.529+2183C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5441655 | ||||||
| chr18:5441666
|
G | A | 22 | a0001c0001t0001g0051a0001c0001t0001g0181a0001c0001t0001g0212others(19): Show | 22 | HG01106.hp1 HG01243.hp2 HG01884.hp2 others(19): Show |
intron_variant | MODIFIER | c.529+2172C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5441666 | ||||||
| chr18:5441700
|
G | A | 1 | a0001c0001t0001g0089 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.529+2138C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5441700 | ||||||
| chr18:5441711
|
G | A | 111 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(108): Show | 111 | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(108): Show |
intron_variant | MODIFIER | c.529+2127C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5441711 | ||||||
| chr18:5441712
|
T | C | 111 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(108): Show | 111 | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(108): Show |
intron_variant | MODIFIER | c.529+2126A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5441712 | ||||||
| chr18:5441744
|
G | A | 1 | a0001c0002t0002g0016 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.529+2094C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5441744 | ||||||
| chr18:5441744
|
G | T | 3 | a0001c0002t0001g0026a0001c0002t0002g0008a0001c0002t0002g0164 | 3 | HG02451.hp2 HG02922.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.529+2094C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5441744 | ||||||
| chr18:5441753
|
C | T | 3 | a0001c0002t0001g0026a0001c0002t0002g0008a0001c0002t0002g0164 | 3 | HG02451.hp2 HG02922.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.529+2085G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5441753 | ||||||
| chr18:5441755
|
C | T | 5 | a0001c0001t0001g0061a0001c0001t0001g0182a0001c0001t0001g0183others(2): Show | 5 | HG02523.hp2 NA18942.hp2 NA18986.hp2 others(2): Show |
intron_variant | MODIFIER | c.529+2083G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5441755 | ||||||
| chr18:5441759
|
C | T | 1 | a0007c0011t0002g0050 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.529+2079G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5441759 | ||||||
| chr18:5441809
|
A | T | 7 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(4): Show | 7 | HG02145.hp1 HG02257.hp1 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.529+2029T>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5441809 | ||||||
| chr18:5441852
|
C | T | 1 | a0002c0003t0003g0155 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.529+1986G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5441852 | ||||||
| chr18:5441984
|
T | C | 2 | a0001c0002t0002g0185a0001c0002t0002g0186 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.529+1854A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5441984 | ||||||
| chr18:5441991
|
A | C | 1 | a0002c0003t0002g0108 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.529+1847T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5441991 | ||||||
| chr18:5442050
|
C | T | 3 | a0001c0001t0001g0052a0001c0001t0002g0015a0015c0013t0001g0125 | 3 | HG03041.hp1 HG03471.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.529+1788G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5442050 | ||||||
| chr18:5442121
|
G | T | 1 | a0001c0002t0002g0222 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.529+1717C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5442121 | ||||||
| chr18:5442182
|
A | C | 5 | a0001c0002t0001g0215a0001c0002t0002g0069a0001c0002t0002g0071others(2): Show | 5 | HG01243.hp1 HG02109.hp2 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.529+1656T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5442182 | ||||||
| chr18:5442720
|
G | C | 1 | a0003c0004t0002g0173 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.529+1118C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5442720 | ||||||
| chr18:5443276
|
T | A | 45 | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0017others(42): Show | 45 | HG00408.hp2 HG00673.hp1 HG00733.hp2 others(42): Show |
intron_variant | MODIFIER | c.529+562A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5443276 | ||||||
| chr18:5443359
|
A | G | 4 | a0001c0002t0002g0027a0001c0002t0002g0028a0001c0002t0002g0039others(1): Show | 4 | HG01884.hp1 HG02809.hp2 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.529+479T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5443359 | ||||||
| chr18:5443785
|
T | C | 1 | a0001c0002t0002g0037 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.529+53A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 5/22 | chr18 | 5443785 | ||||||
| chr18:5444241
|
A | G | 169 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(166): Show | 169 | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(166): Show |
intron_variant | MODIFIER | c.487-361T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 4/22 | chr18 | 5444241 | ||||||
| chr18:5444534
|
C | T | 165 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(162): Show | 165 | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(162): Show |
intron_variant | MODIFIER | c.486+606G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 4/22 | chr18 | 5444534 | ||||||
| chr18:5444662
|
C | A | 1 | a0001c0001t0001g0046 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.486+478G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 4/22 | chr18 | 5444662 | ||||||
| chr18:5444843
|
C | G | 1 | a0001c0001t0002g0018 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.486+297G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 4/22 | chr18 | 5444843 | ||||||
| chr18:5445488
|
C | T | 1 | a0001c0002t0002g0022 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.382-244G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5445488 | ||||||
| chr18:5445555
|
G | A | 2 | a0008c0009t0002g0020a0008c0009t0002g0165 | 2 | HG02055.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.382-311C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5445555 | ||||||
| chr18:5445560
|
T | G | 3 | a0001c0012t0001g0093a0002c0003t0002g0174a0003c0004t0002g0173 | 3 | HG01106.hp1 HG02647.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.382-316A>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5445560 | ||||||
| chr18:5445604
|
G | C | 3 | a0001c0002t0002g0130a0001c0002t0002g0131a0001c0002t0002g0170 | 3 | HG01891.hp1 HG02280.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.382-360C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5445604 | ||||||
| chr18:5445747
|
C | T | 4 | a0001c0002t0001g0026a0001c0002t0002g0008a0001c0002t0002g0164others(1): Show | 4 | HG02451.hp2 HG02922.hp2 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.382-503G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5445747 | ||||||
| chr18:5446234
|
C | T | 2 | a0001c0002t0002g0075a0001c0002t0002g0172 | 2 | HG02451.hp1 HG02572.hp1 |
intron_variant | MODIFIER | c.382-990G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5446234 | ||||||
| chr18:5446605
|
G | C | 1 | a0001c0001t0001g0158 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.382-1361C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5446605 | ||||||
| chr18:5446617
|
G | A | 28 | a0001c0001t0001g0052a0001c0001t0001g0057a0001c0001t0001g0061others(25): Show | 28 | HG00408.hp1 HG00673.hp2 HG01192.hp2 others(25): Show |
intron_variant | MODIFIER | c.382-1373C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5446617 | ||||||
| chr18:5446682
|
C | G | 1 | a0001c0001t0002g0206 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.382-1438G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5446682 | ||||||
| chr18:5446777
|
T | C | 1 | a0001c0001t0001g0209 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.382-1533A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5446777 | ||||||
| chr18:5446890
|
G | A | 169 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(166): Show | 169 | HG00408.hp1 HG00408.hp2 HG00673.hp1 others(166): Show |
intron_variant | MODIFIER | c.382-1646C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5446890 | ||||||
| chr18:5446933
|
T | A | 56 | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0017others(53): Show | 56 | HG00408.hp2 HG00673.hp1 HG00733.hp2 others(53): Show |
intron_variant | MODIFIER | c.382-1689A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5446933 | ||||||
| chr18:5446964
|
C | T | 1 | a0001c0002t0002g0075 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.382-1720G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5446964 | ||||||
| chr18:5447141
|
T | C | 47 | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0017others(44): Show | 47 | HG00408.hp2 HG00673.hp1 HG00733.hp2 others(44): Show |
intron_variant | MODIFIER | c.382-1897A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5447141 | ||||||
| chr18:5447237
|
T | G | 1 | a0001c0001t0002g0166 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.382-1993A>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5447237 | ||||||
| chr18:5447308
|
T | C | 1 | a0001c0002t0002g0075 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.382-2064A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5447308 | ||||||
| chr18:5447328
|
G | C | 3 | a0001c0002t0002g0053a0001c0002t0002g0185a0001c0002t0002g0186 | 3 | HG02896.hp1 HG02897.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.382-2084C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5447328 | ||||||
| chr18:5447448
|
C | CTT | 59 | a0001c0001t0001g0004a0001c0001t0001g0034a0001c0001t0001g0038others(56): Show | 59 | HG00733.hp1 HG00738.hp1 HG00738.hp2 others(56): Show |
intron_variant | MODIFIER | c.382-2206_382-2205d others(4): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5447448 | ||||||
| chr18:5447448
|
C | CTTT | 12 | a0001c0001t0001g0051a0001c0001t0001g0104a0001c0001t0001g0113others(9): Show | 12 | HG01175.hp1 HG01243.hp2 HG01361.hp1 others(9): Show |
intron_variant | MODIFIER | c.382-2207_382-2205d others(5): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5447448 | ||||||
| chr18:5447448
|
CT | C | 27 | a0001c0001t0001g0085a0001c0001t0001g0105a0001c0001t0001g0135others(24): Show | 27 | HG00408.hp1 HG00558.hp1 HG01175.hp2 others(24): Show |
intron_variant | MODIFIER | c.382-2205delA | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5447448 | ||||||
| chr18:5447448
|
CTT | C | 6 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(3): Show | 6 | HG02257.hp1 HG02630.hp2 HG02809.hp1 others(3): Show |
intron_variant | MODIFIER | c.382-2206_382-2205d others(4): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5447448 | ||||||
| chr18:5447479
|
A | G | 4 | a0001c0002t0001g0026a0001c0002t0002g0008a0001c0002t0002g0164others(1): Show | 4 | HG02451.hp2 HG02922.hp2 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.382-2235T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5447479 | ||||||
| chr18:5447627
|
A | G | 1 | a0011c0021t0002g0171 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.382-2383T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5447627 | ||||||
| chr18:5447677
|
C | T | 5 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(2): Show | 5 | HG02145.hp1 HG02257.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.382-2433G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5447677 | ||||||
| chr18:5447917
|
C | T | 20 | a0001c0001t0001g0061a0001c0001t0001g0105a0001c0001t0001g0139others(17): Show | 20 | HG00408.hp1 HG00673.hp2 HG01192.hp2 others(17): Show |
intron_variant | MODIFIER | c.382-2673G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5447917 | ||||||
| chr18:5447938
|
T | C | 2 | a0001c0001t0013g0025a0001c0002t0002g0016 | 2 | HG04184.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.382-2694A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5447938 | ||||||
| chr18:5448023
|
C | A | 2 | a0001c0002t0002g0075a0001c0002t0002g0172 | 2 | HG02451.hp1 HG02572.hp1 |
intron_variant | MODIFIER | c.382-2779G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5448023 | ||||||
| chr18:5448023
|
C | T | 1 | a0001c0001t0001g0194 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.382-2779G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5448023 | ||||||
| chr18:5448076
|
A | T | 1 | a0001c0001t0001g0183 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.382-2832T>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5448076 | ||||||
| chr18:5448091
|
C | G | 3 | a0001c0001t0001g0217a0001c0001t0001g0219a0001c0020t0001g0198 | 3 | NA18978.hp1 NA19000.hp2 NA19010.hp2 |
intron_variant | MODIFIER | c.382-2847G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5448091 | ||||||
| chr18:5448205
|
C | T | 30 | a0001c0001t0001g0019a0001c0001t0001g0048a0001c0001t0001g0060others(27): Show | 30 | HG00323.hp1 HG00323.hp2 HG00558.hp2 others(27): Show |
intron_variant | MODIFIER | c.382-2961G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5448205 | ||||||
| chr18:5448208
|
T | C | 1 | a0001c0001t0002g0123 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.382-2964A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5448208 | ||||||
| chr18:5448225
|
A | G | 1 | a0001c0001t0001g0002 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.382-2981T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5448225 | ||||||
| chr18:5448268
|
C | T | 65 | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0017others(62): Show | 65 | HG00408.hp2 HG00673.hp1 HG00733.hp2 others(62): Show |
intron_variant | MODIFIER | c.382-3024G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5448268 | ||||||
| chr18:5448333
|
A | G | 3 | a0001c0002t0002g0053a0001c0002t0002g0185a0001c0002t0002g0186 | 3 | HG02896.hp1 HG02897.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.382-3089T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5448333 | ||||||
| chr18:5448691
|
A | G | 1 | a0001c0005t0004g0054 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.382-3447T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5448691 | ||||||
| chr18:5448729
|
A | G | 146 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(143): Show | 146 | HG00408.hp1 HG00408.hp2 HG00673.hp1 others(143): Show |
intron_variant | MODIFIER | c.382-3485T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5448729 | ||||||
| chr18:5448805
|
C | A | 2 | a0001c0002t0002g0027a0001c0002t0002g0028 | 2 | HG01884.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.382-3561G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5448805 | ||||||
| chr18:5449141
|
T | G | 109 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(106): Show | 109 | HG00408.hp2 HG00673.hp1 HG00733.hp1 others(106): Show |
intron_variant | MODIFIER | c.382-3897A>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5449141 | ||||||
| chr18:5449165
|
T | C | 5 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(2): Show | 5 | HG02145.hp1 HG02257.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.382-3921A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5449165 | ||||||
| chr18:5449188
|
C | A | 1 | a0001c0002t0002g0163 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.382-3944G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5449188 | ||||||
| chr18:5449205
|
AGATAGCA others(48): Show |
A | 1 | a0001c0002t0002g0037 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.382-4016_382-3962d others(57): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5449205 | ||||||
| chr18:5449261
|
C | A | 1 | a0001c0002t0002g0037 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.382-4017G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5449261 | ||||||
| chr18:5449414
|
G | A | 1 | a0001c0001t0001g0124 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.382-4170C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5449414 | ||||||
| chr18:5449455
|
TTCAACAA | T | 4 | a0001c0002t0001g0026a0001c0002t0002g0008a0001c0002t0002g0164others(1): Show | 4 | HG02451.hp2 HG02922.hp2 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.382-4218_382-4212d others(9): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5449455 | ||||||
| chr18:5449463
|
T | C | 3 | a0001c0001t0001g0052a0001c0001t0002g0015a0015c0013t0001g0125 | 3 | HG03041.hp1 HG03471.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.382-4219A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5449463 | ||||||
| chr18:5449523
|
CACAAATG others(6): Show |
C | 1 | a0009c0023t0005g0014 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.382-4292_382-4280d others(15): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5449523 | ||||||
| chr18:5449628
|
C | T | 1 | a0009c0023t0005g0014 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.382-4384G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5449628 | ||||||
| chr18:5449727
|
G | A | 18 | a0001c0001t0001g0061a0001c0001t0001g0105a0001c0001t0001g0139others(15): Show | 18 | HG00408.hp1 HG00673.hp2 HG01192.hp2 others(15): Show |
intron_variant | MODIFIER | c.382-4483C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5449727 | ||||||
| chr18:5449747
|
G | T | 189 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(186): Show | 189 | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(186): Show |
intron_variant | MODIFIER | c.382-4503C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5449747 | ||||||
| chr18:5449872
|
T | C | 2 | a0001c0001t0013g0025a0001c0002t0002g0016 | 2 | HG04184.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.382-4628A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5449872 | ||||||
| chr18:5449939
|
A | G | 2 | a0001c0002t0002g0075a0001c0002t0002g0172 | 2 | HG02451.hp1 HG02572.hp1 |
intron_variant | MODIFIER | c.382-4695T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5449939 | ||||||
| chr18:5450047
|
G | A | 1 | a0001c0001t0001g0060 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.382-4803C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5450047 | ||||||
| chr18:5450086
|
G | A | 1 | a0002c0003t0003g0147 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.382-4842C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5450086 | ||||||
| chr18:5450087
|
G | A | 1 | a0002c0003t0003g0147 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.382-4843C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5450087 | ||||||
| chr18:5450213
|
G | T | 2 | a0001c0001t0001g0167a0012c0019t0001g0099 | 2 | HG00733.hp1 HG01255.hp1 |
intron_variant | MODIFIER | c.382-4969C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5450213 | ||||||
| chr18:5450465
|
TG | T | 157 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(154): Show | 157 | HG00408.hp1 HG00408.hp2 HG00673.hp1 others(154): Show |
intron_variant | MODIFIER | c.382-5222delC | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5450465 | ||||||
| chr18:5450502
|
G | C | 2 | a0002c0003t0003g0115a0002c0003t0003g0147 | 2 | HG01081.hp1 HG01516.hp1 |
intron_variant | MODIFIER | c.382-5258C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5450502 | ||||||
| chr18:5450636
|
G | T | 5 | a0001c0001t0002g0094a0001c0002t0002g0035a0001c0002t0010g0031others(2): Show | 5 | HG01081.hp2 HG02630.hp1 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.382-5392C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5450636 | ||||||
| chr18:5450641
|
TA | T | 23 | a0001c0001t0001g0057a0001c0001t0001g0061a0001c0001t0001g0105others(20): Show | 23 | HG00408.hp1 HG00673.hp2 HG01192.hp2 others(20): Show |
intron_variant | MODIFIER | c.382-5398delT | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5450641 | ||||||
| chr18:5450838
|
C | G | 156 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(153): Show | 156 | HG00408.hp1 HG00408.hp2 HG00673.hp1 others(153): Show |
intron_variant | MODIFIER | c.382-5594G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5450838 | ||||||
| chr18:5450893
|
C | T | 3 | a0001c0002t0001g0026a0001c0002t0002g0008a0001c0002t0002g0164 | 3 | HG02451.hp2 HG02922.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.382-5649G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5450893 | ||||||
| chr18:5450928
|
G | C | 60 | a0001c0001t0001g0004a0001c0001t0001g0034a0001c0001t0001g0038others(57): Show | 60 | HG00733.hp1 HG00738.hp1 HG00738.hp2 others(57): Show |
intron_variant | MODIFIER | c.382-5684C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5450928 | ||||||
| chr18:5451030
|
G | A | 18 | a0001c0001t0001g0061a0001c0001t0001g0105a0001c0001t0001g0139others(15): Show | 18 | HG00408.hp1 HG00673.hp2 HG01192.hp2 others(15): Show |
intron_variant | MODIFIER | c.382-5786C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5451030 | ||||||
| chr18:5451076
|
C | T | 4 | a0001c0002t0001g0026a0001c0002t0002g0008a0001c0002t0002g0164others(1): Show | 4 | HG02451.hp2 HG02922.hp2 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.382-5832G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5451076 | ||||||
| chr18:5451122
|
G | A | 9 | a0001c0001t0002g0018a0001c0002t0001g0215a0001c0002t0002g0069others(6): Show | 9 | HG01175.hp2 HG01243.hp1 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.382-5878C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5451122 | ||||||
| chr18:5451149
|
T | C | 1 | a0001c0001t0001g0158 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.382-5905A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5451149 | ||||||
| chr18:5451428
|
T | A | 1 | a0001c0001t0001g0136 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.382-6184A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5451428 | ||||||
| chr18:5451641
|
T | C | 54 | a0001c0001t0001g0004a0001c0001t0001g0034a0001c0001t0001g0038others(51): Show | 54 | HG00733.hp1 HG00738.hp1 HG01175.hp1 others(51): Show |
intron_variant | MODIFIER | c.382-6397A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5451641 | ||||||
| chr18:5451702
|
C | T | 1 | a0001c0001t0001g0052 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.382-6458G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5451702 | ||||||
| chr18:5451797
|
T | A | 3 | a0001c0002t0002g0053a0001c0002t0002g0185a0001c0002t0002g0186 | 3 | HG02896.hp1 HG02897.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.382-6553A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5451797 | ||||||
| chr18:5452081
|
G | A | 1 | a0001c0002t0002g0049 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.382-6837C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5452081 | ||||||
| chr18:5452167
|
C | A | 1 | a0001c0001t0002g0166 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.382-6923G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5452167 | ||||||
| chr18:5452225
|
T | C | 91 | a0001c0001t0001g0004a0001c0001t0001g0034a0001c0001t0001g0038others(88): Show | 91 | HG00733.hp1 HG00738.hp1 HG01106.hp1 others(88): Show |
intron_variant | MODIFIER | c.382-6981A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5452225 | ||||||
| chr18:5452293
|
A | G | 169 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(166): Show | 169 | HG00408.hp1 HG00408.hp2 HG00673.hp1 others(166): Show |
intron_variant | MODIFIER | c.382-7049T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5452293 | ||||||
| chr18:5452311
|
G | A | 46 | a0001c0001t0001g0004a0001c0001t0001g0034a0001c0001t0001g0038others(43): Show | 46 | HG00738.hp1 HG01175.hp1 HG01255.hp2 others(43): Show |
intron_variant | MODIFIER | c.382-7067C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5452311 | ||||||
| chr18:5452358
|
A | T | 91 | a0001c0001t0001g0004a0001c0001t0001g0034a0001c0001t0001g0038others(88): Show | 91 | HG00733.hp1 HG00738.hp1 HG01106.hp1 others(88): Show |
intron_variant | MODIFIER | c.382-7114T>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5452358 | ||||||
| chr18:5452378
|
C | CT | 46 | a0001c0001t0001g0051a0001c0001t0001g0052a0001c0001t0001g0057others(43): Show | 46 | HG01106.hp1 HG01175.hp2 HG01243.hp1 others(43): Show |
intron_variant | MODIFIER | c.382-7135dupA | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5452378 | ||||||
| chr18:5452378
|
C | CTT | 59 | a0001c0001t0001g0004a0001c0001t0001g0034a0001c0001t0001g0038others(56): Show | 59 | HG00733.hp1 HG00738.hp1 HG01175.hp1 others(56): Show |
intron_variant | MODIFIER | c.382-7136_382-7135d others(4): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5452378 | ||||||
| chr18:5452526
|
C | T | 19 | a0001c0001t0001g0051a0001c0001t0001g0181a0001c0001t0001g0212others(16): Show | 19 | HG01106.hp1 HG01243.hp2 HG01884.hp2 others(16): Show |
intron_variant | MODIFIER | c.382-7282G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5452526 | ||||||
| chr18:5452687
|
A | AATAAT | 91 | a0001c0001t0001g0004a0001c0001t0001g0034a0001c0001t0001g0038others(88): Show | 91 | HG00733.hp1 HG00738.hp1 HG01106.hp1 others(88): Show |
intron_variant | MODIFIER | c.382-7444_382-7443i others(7): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5452687 | ||||||
| chr18:5452713
|
G | A | 169 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(166): Show | 169 | HG00408.hp1 HG00408.hp2 HG00673.hp1 others(166): Show |
intron_variant | MODIFIER | c.382-7469C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5452713 | ||||||
| chr18:5452719
|
A | C | 91 | a0001c0001t0001g0004a0001c0001t0001g0034a0001c0001t0001g0038others(88): Show | 91 | HG00733.hp1 HG00738.hp1 HG01106.hp1 others(88): Show |
intron_variant | MODIFIER | c.382-7475T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5452719 | ||||||
| chr18:5452782
|
T | TTG | 10 | a0001c0001t0001g0201a0001c0001t0002g0018a0001c0002t0001g0215others(7): Show | 10 | HG01175.hp2 HG01243.hp1 HG02109.hp2 others(7): Show |
intron_variant | MODIFIER | c.382-7540_382-7539d others(4): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5452782 | ||||||
| chr18:5452782
|
TTGTG | T | 2 | a0001c0001t0013g0025a0001c0002t0002g0016 | 2 | HG04184.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.382-7542_382-7539d others(6): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5452782 | ||||||
| chr18:5452782
|
TTGTGTG | T | 91 | a0001c0001t0001g0004a0001c0001t0001g0034a0001c0001t0001g0038others(88): Show | 91 | HG00733.hp1 HG00738.hp1 HG01106.hp1 others(88): Show |
intron_variant | MODIFIER | c.382-7544_382-7539d others(8): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5452782 | ||||||
| chr18:5452806
|
T | G | 1 | a0001c0001t0001g0207 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.382-7562A>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5452806 | ||||||
| chr18:5452817
|
G | A | 1 | a0001c0001t0001g0212 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.382-7573C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5452817 | ||||||
| chr18:5452836
|
A | G | 1 | a0001c0002t0002g0016 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.382-7592T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5452836 | ||||||
| chr18:5452914
|
T | A | 47 | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0017others(44): Show | 47 | HG00408.hp2 HG00673.hp1 HG00733.hp2 others(44): Show |
intron_variant | MODIFIER | c.382-7670A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5452914 | ||||||
| chr18:5452919
|
C | T | 91 | a0001c0001t0001g0004a0001c0001t0001g0034a0001c0001t0001g0038others(88): Show | 91 | HG00733.hp1 HG00738.hp1 HG01106.hp1 others(88): Show |
intron_variant | MODIFIER | c.382-7675G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5452919 | ||||||
| chr18:5452977
|
A | G | 91 | a0001c0001t0001g0004a0001c0001t0001g0034a0001c0001t0001g0038others(88): Show | 91 | HG00733.hp1 HG00738.hp1 HG01106.hp1 others(88): Show |
intron_variant | MODIFIER | c.382-7733T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5452977 | ||||||
| chr18:5452979
|
G | A | 1 | a0001c0002t0002g0172 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.382-7735C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5452979 | ||||||
| chr18:5453133
|
G | A | 11 | a0001c0001t0001g0051a0001c0001t0007g0065a0001c0002t0002g0049others(8): Show | 11 | HG01106.hp1 HG01243.hp2 HG02258.hp2 others(8): Show |
intron_variant | MODIFIER | c.382-7889C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5453133 | ||||||
| chr18:5453455
|
C | A | 4 | a0001c0002t0001g0026a0001c0002t0002g0008a0001c0002t0002g0164others(1): Show | 4 | HG02451.hp2 HG02922.hp2 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.382-8211G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5453455 | ||||||
| chr18:5453563
|
A | G | 169 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(166): Show | 169 | HG00408.hp1 HG00408.hp2 HG00673.hp1 others(166): Show |
intron_variant | MODIFIER | c.382-8319T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5453563 | ||||||
| chr18:5453659
|
C | T | 13 | a0001c0001t0001g0061a0001c0001t0001g0105a0001c0001t0001g0139others(10): Show | 13 | HG00408.hp1 HG00673.hp2 HG01192.hp2 others(10): Show |
intron_variant | MODIFIER | c.382-8415G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5453659 | ||||||
| chr18:5453781
|
A | G | 1 | a0001c0002t0002g0029 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.382-8537T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5453781 | ||||||
| chr18:5453806
|
G | A | 2 | a0001c0001t0001g0181a0001c0002t0002g0216 | 2 | HG02897.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.382-8562C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5453806 | ||||||
| chr18:5454132
|
C | T | 1 | a0001c0001t0001g0043 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.382-8888G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5454132 | ||||||
| chr18:5454180
|
C | T | 10 | a0001c0001t0001g0051a0001c0001t0007g0065a0001c0002t0002g0049others(7): Show | 10 | HG01106.hp1 HG01243.hp2 HG02622.hp2 others(7): Show |
intron_variant | MODIFIER | c.382-8936G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5454180 | ||||||
| chr18:5454201
|
G | T | 1 | a0001c0002t0001g0026 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.382-8957C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5454201 | ||||||
| chr18:5454205
|
C | T | 154 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(151): Show | 154 | HG00408.hp1 HG00408.hp2 HG00673.hp1 others(151): Show |
intron_variant | MODIFIER | c.382-8961G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5454205 | ||||||
| chr18:5454209
|
G | GT | 8 | a0001c0001t0001g0182a0001c0002t0002g0006a0001c0002t0002g0016others(5): Show | 8 | HG02486.hp2 HG02818.hp1 HG03139.hp1 others(5): Show |
intron_variant | MODIFIER | c.382-8966dupA | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5454209 | ||||||
| chr18:5454209
|
G | GTT | 12 | a0001c0001t0001g0061a0001c0001t0001g0105a0001c0001t0001g0139others(9): Show | 12 | HG00408.hp1 HG00673.hp2 HG01192.hp2 others(9): Show |
intron_variant | MODIFIER | c.382-8967_382-8966d others(4): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5454209 | ||||||
| chr18:5454217
|
T | G | 5 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(2): Show | 5 | HG02145.hp1 HG02257.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.382-8973A>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5454217 | ||||||
| chr18:5454311
|
C | T | 1 | a0001c0001t0001g0046 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.382-9067G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5454311 | ||||||
| chr18:5454356
|
A | T | 18 | a0001c0001t0001g0203a0001c0001t0001g0207a0001c0001t0001g0218others(15): Show | 18 | HG00558.hp1 HG01081.hp2 HG02630.hp1 others(15): Show |
intron_variant | MODIFIER | c.382-9112T>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5454356 | ||||||
| chr18:5454620
|
C | A | 2 | a0001c0001t0013g0025a0001c0002t0002g0016 | 2 | HG04184.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.382-9376G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5454620 | ||||||
| chr18:5454835
|
C | T | 3 | a0001c0001t0001g0052a0001c0001t0002g0015a0015c0013t0001g0125 | 3 | HG03041.hp1 HG03471.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.382-9591G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5454835 | ||||||
| chr18:5455064
|
T | C | 48 | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0017others(45): Show | 48 | HG00408.hp2 HG00673.hp1 HG00733.hp2 others(45): Show |
intron_variant | MODIFIER | c.382-9820A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5455064 | ||||||
| chr18:5455084
|
G | A | 2 | a0008c0009t0002g0020a0008c0009t0002g0165 | 2 | HG02055.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.382-9840C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5455084 | ||||||
| chr18:5455251
|
C | T | 5 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(2): Show | 5 | HG02145.hp1 HG02257.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.382-10007G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5455251 | ||||||
| chr18:5455274
|
A | T | 1 | a0001c0002t0002g0049 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.382-10030T>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5455274 | ||||||
| chr18:5455293
|
C | T | 28 | a0001c0001t0001g0051a0001c0001t0001g0057a0001c0001t0001g0181others(25): Show | 28 | HG01106.hp1 HG01243.hp2 HG01884.hp2 others(25): Show |
intron_variant | MODIFIER | c.382-10049G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5455293 | ||||||
| chr18:5455294
|
GA | G | 12 | a0001c0001t0001g0128a0001c0001t0001g0133a0001c0001t0001g0167others(9): Show | 12 | HG00733.hp1 HG01255.hp1 HG01258.hp1 others(9): Show |
intron_variant | MODIFIER | c.382-10051delT | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5455294 | ||||||
| chr18:5455387
|
T | G | 19 | a0001c0001t0001g0051a0001c0001t0001g0181a0001c0001t0001g0212others(16): Show | 19 | HG01106.hp1 HG01243.hp2 HG01884.hp2 others(16): Show |
intron_variant | MODIFIER | c.382-10143A>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5455387 | ||||||
| chr18:5455620
|
C | T | 4 | a0001c0002t0002g0130a0001c0002t0002g0131a0001c0002t0002g0170others(1): Show | 4 | HG01891.hp1 HG02280.hp1 HG02486.hp1 others(1): Show |
intron_variant | MODIFIER | c.382-10376G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5455620 | ||||||
| chr18:5455620
|
CT | C | 24 | a0001c0001t0001g0051a0001c0001t0001g0181a0001c0001t0001g0212others(21): Show | 24 | HG01081.hp2 HG01106.hp1 HG01243.hp2 others(21): Show |
intron_variant | MODIFIER | c.382-10377delA | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5455620 | ||||||
| chr18:5456204
|
C | T | 3 | a0001c0002t0002g0053a0001c0002t0002g0185a0001c0002t0002g0186 | 3 | HG02896.hp1 HG02897.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.382-10960G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5456204 | ||||||
| chr18:5456310
|
T | C | 1 | a0001c0001t0002g0166 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.382-11066A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5456310 | ||||||
| chr18:5456514
|
C | T | 1 | a0001c0001t0001g0043 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.382-11270G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5456514 | ||||||
| chr18:5456518
|
A | G | 71 | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0017others(68): Show | 71 | HG00408.hp1 HG00408.hp2 HG00673.hp1 others(68): Show |
intron_variant | MODIFIER | c.382-11274T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5456518 | ||||||
| chr18:5456518
|
A | T | 89 | a0001c0001t0001g0004a0001c0001t0001g0034a0001c0001t0001g0038others(86): Show | 89 | HG00733.hp1 HG00738.hp1 HG01106.hp1 others(86): Show |
intron_variant | MODIFIER | c.382-11274T>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5456518 | ||||||
| chr18:5456539
|
C | T | 1 | a0001c0002t0002g0016 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.382-11295G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5456539 | ||||||
| chr18:5456726
|
T | C | 86 | a0001c0001t0001g0004a0001c0001t0001g0034a0001c0001t0001g0038others(83): Show | 86 | HG00733.hp1 HG00738.hp1 HG01106.hp1 others(83): Show |
intron_variant | MODIFIER | c.382-11482A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5456726 | ||||||
| chr18:5456748
|
C | T | 1 | a0007c0011t0002g0095 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.382-11504G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5456748 | ||||||
| chr18:5456775
|
A | G | 89 | a0001c0001t0001g0004a0001c0001t0001g0034a0001c0001t0001g0038others(86): Show | 89 | HG00733.hp1 HG00738.hp1 HG01106.hp1 others(86): Show |
intron_variant | MODIFIER | c.382-11531T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5456775 | ||||||
| chr18:5456900
|
G | A | 1 | a0001c0001t0001g0146 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.382-11656C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5456900 | ||||||
| chr18:5456910
|
C | A | 3 | a0001c0002t0002g0053a0001c0002t0002g0185a0001c0002t0002g0186 | 3 | HG02896.hp1 HG02897.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.382-11666G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5456910 | ||||||
| chr18:5457106
|
AAAAACTG others(93): Show |
A | 60 | a0001c0001t0001g0004a0001c0001t0001g0034a0001c0001t0001g0038others(57): Show | 60 | HG00733.hp1 HG00738.hp1 HG01175.hp1 others(57): Show |
intron_variant | MODIFIER | c.382-11962_382-1186 others(104): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5457106 | ||||||
| chr18:5457163
|
C | A | 4 | a0001c0001t0001g0096a0001c0002t0002g0022a0001c0002t0002g0023others(1): Show | 4 | HG01952.hp2 HG02055.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.382-11919G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5457163 | ||||||
| chr18:5457409
|
A | G | 3 | a0001c0002t0001g0026a0001c0002t0002g0008a0001c0002t0002g0164 | 3 | HG02451.hp2 HG02922.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.382-12165T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5457409 | ||||||
| chr18:5457424
|
T | C | 1 | a0011c0021t0002g0171 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.382-12180A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5457424 | ||||||
| chr18:5457461
|
T | C | 1 | a0001c0002t0002g0075 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.382-12217A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5457461 | ||||||
| chr18:5457473
|
T | C | 7 | a0001c0001t0001g0051a0001c0001t0007g0065a0001c0012t0001g0093others(4): Show | 7 | HG01106.hp1 HG02622.hp2 HG02647.hp1 others(4): Show |
intron_variant | MODIFIER | c.382-12229A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5457473 | ||||||
| chr18:5457534
|
T | C | 1 | a0001c0001t0002g0094 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.382-12290A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5457534 | ||||||
| chr18:5457643
|
G | C | 49 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(46): Show | 49 | HG00408.hp2 HG00673.hp1 HG00733.hp2 others(46): Show |
intron_variant | MODIFIER | c.382-12399C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5457643 | ||||||
| chr18:5457764
|
T | C | 1 | a0001c0001t0001g0004 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.382-12520A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5457764 | ||||||
| chr18:5457778
|
C | T | 20 | a0001c0001t0001g0051a0001c0001t0001g0181a0001c0001t0001g0212others(17): Show | 20 | HG01106.hp1 HG01884.hp2 HG02258.hp2 others(17): Show |
intron_variant | MODIFIER | c.382-12534G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5457778 | ||||||
| chr18:5457987
|
A | G | 28 | a0001c0001t0001g0051a0001c0001t0002g0015a0001c0001t0002g0018others(25): Show | 28 | HG01106.hp1 HG01243.hp1 HG02055.hp1 others(25): Show |
intron_variant | MODIFIER | c.382-12743T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5457987 | ||||||
| chr18:5458135
|
A | G | 25 | a0001c0001t0001g0034a0001c0001t0001g0051a0001c0001t0001g0052others(22): Show | 25 | HG01106.hp1 HG02055.hp1 HG02055.hp2 others(22): Show |
intron_variant | MODIFIER | c.382-12891T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5458135 | ||||||
| chr18:5458244
|
C | G | 105 | a0001c0001t0001g0034a0001c0001t0001g0038a0001c0001t0001g0042others(102): Show | 105 | HG00408.hp1 HG00673.hp2 HG00733.hp1 others(102): Show |
intron_variant | MODIFIER | c.382-13000G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5458244 | ||||||
| chr18:5458266
|
T | C | 10 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(7): Show | 10 | HG02145.hp1 HG02257.hp1 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.382-13022A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5458266 | ||||||
| chr18:5458377
|
G | C | 2 | a0001c0002t0002g0075a0001c0002t0002g0172 | 2 | HG02451.hp1 HG02572.hp1 |
intron_variant | MODIFIER | c.382-13133C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5458377 | ||||||
| chr18:5458709
|
TAA | T | 123 | a0001c0001t0001g0034a0001c0001t0001g0038a0001c0001t0001g0042others(120): Show | 123 | HG00408.hp1 HG00673.hp2 HG00733.hp1 others(120): Show |
intron_variant | MODIFIER | c.382-13467_382-1346 others(6): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5458709 | ||||||
| chr18:5458822
|
G | A | 11 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(8): Show | 11 | HG01884.hp1 HG02145.hp1 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.382-13578C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5458822 | ||||||
| chr18:5459211
|
T | C | 5 | a0001c0001t0002g0015a0001c0001t0002g0018a0001c0002t0002g0039others(2): Show | 5 | HG02572.hp2 HG03139.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.382-13967A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5459211 | ||||||
| chr18:5459280
|
C | T | 123 | a0001c0001t0001g0034a0001c0001t0001g0038a0001c0001t0001g0042others(120): Show | 123 | HG00408.hp1 HG00673.hp2 HG00733.hp1 others(120): Show |
intron_variant | MODIFIER | c.382-14036G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5459280 | ||||||
| chr18:5459395
|
C | CT | 123 | a0001c0001t0001g0034a0001c0001t0001g0038a0001c0001t0001g0042others(120): Show | 123 | HG00408.hp1 HG00673.hp2 HG00733.hp1 others(120): Show |
intron_variant | MODIFIER | c.382-14152dupA | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5459395 | ||||||
| chr18:5459395
|
CT | C | 12 | a0001c0001t0001g0017a0001c0001t0001g0077a0001c0001t0001g0083others(9): Show | 12 | HG01074.hp1 HG01192.hp1 HG01257.hp1 others(9): Show |
intron_variant | MODIFIER | c.382-14152delA | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5459395 | ||||||
| chr18:5459499
|
T | C | 2 | a0001c0001t0001g0146a0003c0004t0002g0098 | 2 | HG01074.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.382-14255A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5459499 | ||||||
| chr18:5459663
|
C | T | 123 | a0001c0001t0001g0034a0001c0001t0001g0038a0001c0001t0001g0042others(120): Show | 123 | HG00408.hp1 HG00673.hp2 HG00733.hp1 others(120): Show |
intron_variant | MODIFIER | c.382-14419G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5459663 | ||||||
| chr18:5460126
|
T | C | 1 | a0001c0002t0002g0132 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.382-14882A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5460126 | ||||||
| chr18:5460320
|
A | C | 126 | a0001c0001t0001g0034a0001c0001t0001g0038a0001c0001t0001g0042others(123): Show | 126 | HG00323.hp1 HG00408.hp1 HG00673.hp2 others(123): Show |
intron_variant | MODIFIER | c.382-15076T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5460320 | ||||||
| chr18:5460470
|
G | C | 1 | a0001c0001t0001g0195 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.382-15226C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5460470 | ||||||
| chr18:5460705
|
C | A | 1 | a0001c0001t0001g0066 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.382-15461G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5460705 | ||||||
| chr18:5460815
|
T | C | 1 | a0001c0001t0001g0207 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.382-15571A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5460815 | ||||||
| chr18:5460864
|
C | T | 5 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(2): Show | 5 | HG02145.hp1 HG02257.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.382-15620G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5460864 | ||||||
| chr18:5461029
|
T | A | 1 | a0001c0001t0001g0203 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.382-15785A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5461029 | ||||||
| chr18:5461059
|
G | A | 123 | a0001c0001t0001g0034a0001c0001t0001g0038a0001c0001t0001g0042others(120): Show | 123 | HG00408.hp1 HG00673.hp2 HG00733.hp1 others(120): Show |
intron_variant | MODIFIER | c.382-15815C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5461059 | ||||||
| chr18:5461253
|
C | G | 125 | a0001c0001t0001g0034a0001c0001t0001g0038a0001c0001t0001g0042others(122): Show | 125 | HG00323.hp1 HG00408.hp1 HG00673.hp2 others(122): Show |
intron_variant | MODIFIER | c.382-16009G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5461253 | ||||||
| chr18:5461342
|
G | A | 8 | a0001c0002t0001g0215a0001c0002t0002g0069a0001c0002t0002g0071others(5): Show | 8 | HG01175.hp2 HG01243.hp1 HG02109.hp2 others(5): Show |
intron_variant | MODIFIER | c.382-16098C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5461342 | ||||||
| chr18:5461415
|
G | T | 172 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(169): Show | 172 | HG00408.hp1 HG00408.hp2 HG00673.hp1 others(169): Show |
intron_variant | MODIFIER | c.382-16171C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5461415 | ||||||
| chr18:5462009
|
G | A | 1 | a0009c0023t0005g0014 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.381+16232C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5462009 | ||||||
| chr18:5462151
|
A | C | 3 | a0001c0001t0001g0010a0001c0002t0001g0041a0001c0002t0002g0040 | 3 | HG02886.hp2 NA18522.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.381+16090T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5462151 | ||||||
| chr18:5462325
|
T | C | 48 | a0001c0001t0001g0038a0001c0001t0001g0042a0001c0001t0001g0045others(45): Show | 48 | HG01175.hp1 HG01361.hp1 HG01433.hp2 others(45): Show |
intron_variant | MODIFIER | c.381+15916A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5462325 | ||||||
| chr18:5462395
|
A | C | 2 | a0001c0002t0002g0027a0001c0002t0002g0028 | 2 | HG01884.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.381+15846T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5462395 | ||||||
| chr18:5462489
|
T | C | 79 | a0001c0001t0001g0038a0001c0001t0001g0042a0001c0001t0001g0045others(76): Show | 79 | HG01175.hp1 HG01175.hp2 HG01243.hp1 others(76): Show |
intron_variant | MODIFIER | c.381+15752A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5462489 | ||||||
| chr18:5462491
|
C | T | 8 | a0001c0002t0001g0215a0001c0002t0002g0069a0001c0002t0002g0071others(5): Show | 8 | HG01175.hp2 HG01243.hp1 HG02109.hp2 others(5): Show |
intron_variant | MODIFIER | c.381+15750G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5462491 | ||||||
| chr18:5462519
|
G | A | 79 | a0001c0001t0001g0038a0001c0001t0001g0042a0001c0001t0001g0045others(76): Show | 79 | HG01175.hp1 HG01175.hp2 HG01243.hp1 others(76): Show |
intron_variant | MODIFIER | c.381+15722C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5462519 | ||||||
| chr18:5462531
|
G | A | 6 | a0001c0001t0013g0025a0001c0002t0002g0016a0001c0002t0002g0027others(3): Show | 6 | HG01884.hp1 HG02809.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.381+15710C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5462531 | ||||||
| chr18:5462617
|
G | A | 2 | a0001c0002t0002g0075a0001c0002t0002g0172 | 2 | HG02451.hp1 HG02572.hp1 |
intron_variant | MODIFIER | c.381+15624C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5462617 | ||||||
| chr18:5462672
|
C | T | 25 | a0001c0001t0001g0061a0001c0001t0001g0105a0001c0001t0001g0139others(22): Show | 25 | HG00408.hp1 HG00673.hp2 HG00733.hp1 others(22): Show |
intron_variant | MODIFIER | c.381+15569G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5462672 | ||||||
| chr18:5462673
|
T | C | 8 | a0001c0002t0001g0215a0001c0002t0002g0069a0001c0002t0002g0071others(5): Show | 8 | HG01175.hp2 HG01243.hp1 HG02109.hp2 others(5): Show |
intron_variant | MODIFIER | c.381+15568A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5462673 | ||||||
| chr18:5462732
|
G | C | 4 | a0001c0001t0002g0015a0001c0001t0002g0018a0001c0002t0002g0039others(1): Show | 4 | HG03139.hp1 HG03195.hp1 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.381+15509C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5462732 | ||||||
| chr18:5462757
|
A | G | 25 | a0001c0001t0001g0061a0001c0001t0001g0105a0001c0001t0001g0139others(22): Show | 25 | HG00408.hp1 HG00673.hp2 HG00733.hp1 others(22): Show |
intron_variant | MODIFIER | c.381+15484T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5462757 | ||||||
| chr18:5463013
|
GTTAC | G | 3 | a0001c0002t0002g0053a0001c0002t0002g0185a0001c0002t0002g0186 | 3 | HG02896.hp1 HG02897.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.381+15224_381+1522 others(8): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5463013 | ||||||
| chr18:5463268
|
C | T | 8 | a0001c0002t0001g0215a0001c0002t0002g0069a0001c0002t0002g0071others(5): Show | 8 | HG01175.hp2 HG01243.hp1 HG02109.hp2 others(5): Show |
intron_variant | MODIFIER | c.381+14973G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5463268 | ||||||
| chr18:5463431
|
G | C | 28 | a0001c0001t0001g0038a0001c0001t0001g0042a0001c0001t0001g0103others(25): Show | 28 | HG01175.hp1 HG01361.hp1 HG01433.hp2 others(25): Show |
intron_variant | MODIFIER | c.381+14810C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5463431 | ||||||
| chr18:5463501
|
T | C | 5 | a0001c0001t0001g0019a0002c0003t0003g0115a0002c0003t0003g0147others(2): Show | 5 | HG00323.hp2 HG01081.hp1 HG01169.hp2 others(2): Show |
intron_variant | MODIFIER | c.381+14740A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5463501 | ||||||
| chr18:5463829
|
C | A | 4 | a0001c0001t0001g0052a0008c0009t0002g0020a0008c0009t0002g0165others(1): Show | 4 | HG02055.hp2 HG03041.hp1 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.381+14412G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5463829 | ||||||
| chr18:5463841
|
T | G | 47 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(44): Show | 47 | HG00408.hp2 HG00673.hp1 HG00733.hp2 others(44): Show |
intron_variant | MODIFIER | c.381+14400A>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5463841 | ||||||
| chr18:5463905
|
C | G | 1 | a0001c0001t0001g0120 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.381+14336G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5463905 | ||||||
| chr18:5463908
|
G | A | 4 | a0001c0001t0001g0052a0008c0009t0002g0020a0008c0009t0002g0165others(1): Show | 4 | HG02055.hp2 HG03041.hp1 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.381+14333C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5463908 | ||||||
| chr18:5463960
|
T | C | 14 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(11): Show | 14 | HG01884.hp1 HG02145.hp1 HG02257.hp1 others(11): Show |
intron_variant | MODIFIER | c.381+14281A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5463960 | ||||||
| chr18:5464039
|
C | G | 1 | a0001c0001t0001g0126 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.381+14202G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5464039 | ||||||
| chr18:5464103
|
T | A | 62 | a0001c0001t0001g0038a0001c0001t0001g0042a0001c0001t0001g0045others(59): Show | 62 | HG01175.hp1 HG01175.hp2 HG01243.hp1 others(59): Show |
intron_variant | MODIFIER | c.381+14138A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5464103 | ||||||
| chr18:5464173
|
G | A | 1 | a0013c0016t0001g0152 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.381+14068C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5464173 | ||||||
| chr18:5464210
|
A | C | 1 | a0001c0001t0001g0207 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.381+14031T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5464210 | ||||||
| chr18:5464273
|
C | T | 80 | a0001c0001t0001g0038a0001c0001t0001g0042a0001c0001t0001g0045others(77): Show | 80 | HG01175.hp1 HG01175.hp2 HG01243.hp1 others(77): Show |
intron_variant | MODIFIER | c.381+13968G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5464273 | ||||||
| chr18:5464342
|
C | T | 1 | a0001c0002t0003g0142 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.381+13899G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5464342 | ||||||
| chr18:5464431
|
G | C | 14 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(11): Show | 14 | HG01884.hp1 HG02145.hp1 HG02257.hp1 others(11): Show |
intron_variant | MODIFIER | c.381+13810C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5464431 | ||||||
| chr18:5464511
|
C | T | 80 | a0001c0001t0001g0038a0001c0001t0001g0042a0001c0001t0001g0045others(77): Show | 80 | HG01175.hp1 HG01175.hp2 HG01243.hp1 others(77): Show |
intron_variant | MODIFIER | c.381+13730G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5464511 | ||||||
| chr18:5464558
|
G | A | 1 | a0001c0001t0001g0219 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.381+13683C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5464558 | ||||||
| chr18:5464620
|
T | A | 80 | a0001c0001t0001g0038a0001c0001t0001g0042a0001c0001t0001g0045others(77): Show | 80 | HG01175.hp1 HG01175.hp2 HG01243.hp1 others(77): Show |
intron_variant | MODIFIER | c.381+13621A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5464620 | ||||||
| chr18:5464830
|
C | T | 1 | a0002c0003t0002g0036 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.381+13411G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5464830 | ||||||
| chr18:5464985
|
A | G | 11 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(8): Show | 11 | HG01884.hp1 HG02145.hp1 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.381+13256T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5464985 | ||||||
| chr18:5465109
|
T | C | 1 | a0001c0001t0001g0002 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.381+13132A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5465109 | ||||||
| chr18:5465332
|
C | T | 1 | a0001c0001t0007g0065 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.381+12909G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5465332 | ||||||
| chr18:5465600
|
C | G | 1 | a0014c0015t0001g0003 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.381+12641G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5465600 | ||||||
| chr18:5465620
|
T | C | 4 | a0001c0001t0001g0057a0001c0001t0002g0058a0001c0002t0002g0056others(1): Show | 4 | HG02145.hp1 HG02630.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.381+12621A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5465620 | ||||||
| chr18:5465639
|
C | G | 59 | a0001c0001t0001g0038a0001c0001t0001g0042a0001c0001t0001g0045others(56): Show | 59 | HG00323.hp1 HG01175.hp1 HG01361.hp1 others(56): Show |
intron_variant | MODIFIER | c.381+12602G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5465639 | ||||||
| chr18:5465773
|
T | C | 3 | a0001c0002t0001g0026a0001c0002t0002g0008a0001c0002t0002g0164 | 3 | HG02451.hp2 HG02922.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.381+12468A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5465773 | ||||||
| chr18:5465866
|
T | C | 108 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(105): Show | 108 | HG00408.hp1 HG00408.hp2 HG00673.hp1 others(105): Show |
intron_variant | MODIFIER | c.381+12375A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5465866 | ||||||
| chr18:5465972
|
C | CA | 106 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(103): Show | 106 | HG00408.hp1 HG00408.hp2 HG00673.hp1 others(103): Show |
intron_variant | MODIFIER | c.381+12268dupT | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5465972 | ||||||
| chr18:5465975
|
A | C | 1 | a0001c0005t0004g0178 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.381+12266T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5465975 | ||||||
| chr18:5466023
|
A | T | 99 | a0001c0001t0001g0038a0001c0001t0001g0042a0001c0001t0001g0045others(96): Show | 99 | HG00323.hp1 HG00408.hp1 HG00558.hp2 others(96): Show |
intron_variant | MODIFIER | c.381+12218T>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5466023 | ||||||
| chr18:5466111
|
C | T | 16 | a0001c0001t0001g0061a0001c0001t0001g0105a0001c0001t0001g0120others(13): Show | 16 | HG00408.hp1 HG00673.hp2 HG00733.hp1 others(13): Show |
intron_variant | MODIFIER | c.381+12130G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5466111 | ||||||
| chr18:5466225
|
T | A | 63 | a0001c0001t0001g0038a0001c0001t0001g0042a0001c0001t0001g0045others(60): Show | 63 | HG00323.hp1 HG00558.hp2 HG01175.hp1 others(60): Show |
intron_variant | MODIFIER | c.381+12016A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5466225 | ||||||
| chr18:5466376
|
T | A | 1 | a0001c0001t0001g0097 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.381+11865A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5466376 | ||||||
| chr18:5466551
|
C | G | 1 | a0001c0002t0002g0029 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.381+11690G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5466551 | ||||||
| chr18:5466746
|
G | T | 61 | a0001c0001t0001g0038a0001c0001t0001g0042a0001c0001t0001g0045others(58): Show | 61 | HG00558.hp2 HG01175.hp1 HG01361.hp1 others(58): Show |
intron_variant | MODIFIER | c.381+11495C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5466746 | ||||||
| chr18:5466782
|
CT | C | 61 | a0001c0001t0001g0038a0001c0001t0001g0042a0001c0001t0001g0045others(58): Show | 61 | HG00558.hp2 HG01175.hp1 HG01361.hp1 others(58): Show |
intron_variant | MODIFIER | c.381+11458delA | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5466782 | ||||||
| chr18:5466830
|
C | T | 1 | a0001c0001t0001g0139 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.381+11411G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5466830 | ||||||
| chr18:5466834
|
T | C | 2 | a0005c0007t0001g0189a0005c0007t0001g0190 | 2 | NA18961.hp2 NA18975.hp1 |
intron_variant | MODIFIER | c.381+11407A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5466834 | ||||||
| chr18:5466948
|
AC | A | 13 | a0001c0001t0001g0030a0001c0001t0001g0077a0001c0001t0001g0083others(10): Show | 13 | HG00673.hp1 HG01074.hp1 HG01106.hp2 others(10): Show |
intron_variant | MODIFIER | c.381+11292delG | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5466948 | ||||||
| chr18:5466996
|
T | C | 1 | a0001c0005t0004g0178 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.381+11245A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5466996 | ||||||
| chr18:5467106
|
T | C | 1 | a0001c0001t0001g0116 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.381+11135A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5467106 | ||||||
| chr18:5467136
|
T | C | 57 | a0001c0001t0001g0038a0001c0001t0001g0042a0001c0001t0001g0045others(54): Show | 57 | HG00558.hp2 HG01175.hp1 HG01361.hp1 others(54): Show |
intron_variant | MODIFIER | c.381+11105A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5467136 | ||||||
| chr18:5467182
|
A | G | 4 | a0001c0001t0002g0015a0001c0001t0002g0018a0001c0002t0002g0039others(1): Show | 4 | HG03139.hp1 HG03195.hp1 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.381+11059T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5467182 | ||||||
| chr18:5467380
|
GC | G | 60 | a0001c0001t0001g0038a0001c0001t0001g0042a0001c0001t0001g0045others(57): Show | 60 | HG00558.hp2 HG01175.hp1 HG01361.hp1 others(57): Show |
intron_variant | MODIFIER | c.381+10860delG | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5467380 | ||||||
| chr18:5467678
|
T | C | 5 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(2): Show | 5 | HG02145.hp1 HG02257.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.381+10563A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5467678 | ||||||
| chr18:5467845
|
G | A | 3 | a0001c0002t0002g0053a0001c0002t0002g0185a0001c0002t0002g0186 | 3 | HG02896.hp1 HG02897.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.381+10396C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5467845 | ||||||
| chr18:5467858
|
C | T | 35 | a0001c0001t0001g0057a0001c0001t0001g0061a0001c0001t0001g0105others(32): Show | 35 | HG00408.hp1 HG00673.hp2 HG00733.hp1 others(32): Show |
intron_variant | MODIFIER | c.381+10383G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5467858 | ||||||
| chr18:5467859
|
G | C | 39 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(36): Show | 39 | HG00408.hp2 HG00673.hp1 HG00733.hp2 others(36): Show |
intron_variant | MODIFIER | c.381+10382C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5467859 | ||||||
| chr18:5467994
|
C | T | 60 | a0001c0001t0001g0038a0001c0001t0001g0042a0001c0001t0001g0045others(57): Show | 60 | HG00558.hp2 HG01175.hp1 HG01361.hp1 others(57): Show |
intron_variant | MODIFIER | c.381+10247G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5467994 | ||||||
| chr18:5468034
|
C | T | 27 | a0001c0001t0001g0019a0001c0001t0001g0048a0001c0001t0001g0060others(24): Show | 27 | HG00323.hp1 HG00323.hp2 HG01074.hp2 others(24): Show |
intron_variant | MODIFIER | c.381+10207G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5468034 | ||||||
| chr18:5468277
|
G | A | 4 | a0001c0001t0001g0052a0008c0009t0002g0020a0008c0009t0002g0165others(1): Show | 4 | HG02055.hp2 HG03041.hp1 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.381+9964C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5468277 | ||||||
| chr18:5468295
|
G | T | 1 | a0001c0001t0013g0025 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.381+9946C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5468295 | ||||||
| chr18:5468296
|
G | A | 60 | a0001c0001t0001g0038a0001c0001t0001g0042a0001c0001t0001g0045others(57): Show | 60 | HG00558.hp2 HG01175.hp1 HG01361.hp1 others(57): Show |
intron_variant | MODIFIER | c.381+9945C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5468296 | ||||||
| chr18:5468382
|
G | C | 11 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(8): Show | 11 | HG01884.hp1 HG02145.hp1 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.381+9859C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5468382 | ||||||
| chr18:5468580
|
G | A | 8 | a0001c0001t0001g0181a0001c0001t0001g0212a0001c0001t0001g0213others(5): Show | 8 | HG01884.hp2 HG02486.hp2 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.381+9661C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5468580 | ||||||
| chr18:5468923
|
AAAACAAA others(4): Show |
A | 61 | a0001c0001t0001g0038a0001c0001t0001g0042a0001c0001t0001g0045others(58): Show | 61 | HG00558.hp2 HG01175.hp1 HG01361.hp1 others(58): Show |
intron_variant | MODIFIER | c.381+9307_381+9317d others(13): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5468923 | ||||||
| chr18:5468930
|
AAAAC | A | 16 | a0001c0001t0001g0004a0001c0001t0001g0046a0001c0001t0001g0057others(13): Show | 16 | HG00408.hp2 HG01243.hp2 HG01255.hp2 others(13): Show |
intron_variant | MODIFIER | c.381+9307_381+9310d others(6): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5468930 | ||||||
| chr18:5468930
|
AAAACAAA others(1): Show |
A | 4 | a0001c0001t0001g0052a0008c0009t0002g0020a0008c0009t0002g0165others(1): Show | 4 | HG02055.hp2 HG03041.hp1 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.381+9303_381+9310d others(10): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5468930 | ||||||
| chr18:5469054
|
T | A | 3 | a0001c0002t0001g0026a0001c0002t0002g0008a0001c0002t0002g0164 | 3 | HG02451.hp2 HG02922.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.381+9187A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5469054 | ||||||
| chr18:5469119
|
A | T | 16 | a0001c0001t0001g0061a0001c0001t0001g0105a0001c0001t0001g0120others(13): Show | 16 | HG00408.hp1 HG00673.hp2 HG00733.hp1 others(13): Show |
intron_variant | MODIFIER | c.381+9122T>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5469119 | ||||||
| chr18:5469186
|
G | A | 1 | a0001c0002t0002g0039 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.381+9055C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5469186 | ||||||
| chr18:5469291
|
A | G | 1 | a0001c0001t0013g0025 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.381+8950T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5469291 | ||||||
| chr18:5469432
|
G | A | 1 | a0001c0001t0001g0110 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.381+8809C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5469432 | ||||||
| chr18:5469446
|
CATGCCTG others(9): Show |
C | 61 | a0001c0001t0001g0038a0001c0001t0001g0042a0001c0001t0001g0045others(58): Show | 61 | HG00558.hp2 HG01175.hp1 HG01361.hp1 others(58): Show |
intron_variant | MODIFIER | c.381+8779_381+8794d others(18): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5469446 | ||||||
| chr18:5469463
|
A | G | 61 | a0001c0001t0001g0038a0001c0001t0001g0042a0001c0001t0001g0045others(58): Show | 61 | HG00558.hp2 HG01175.hp1 HG01361.hp1 others(58): Show |
intron_variant | MODIFIER | c.381+8778T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5469463 | ||||||
| chr18:5469504
|
C | T | 2 | a0001c0002t0002g0027a0001c0002t0002g0028 | 2 | HG01884.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.381+8737G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5469504 | ||||||
| chr18:5469685
|
G | A | 11 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(8): Show | 11 | HG01884.hp1 HG02145.hp1 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.381+8556C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5469685 | ||||||
| chr18:5469709
|
A | T | 71 | a0001c0001t0001g0038a0001c0001t0001g0042a0001c0001t0001g0045others(68): Show | 71 | HG00408.hp1 HG00558.hp2 HG01175.hp1 others(68): Show |
intron_variant | MODIFIER | c.381+8532T>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5469709 | ||||||
| chr18:5469722
|
C | G | 1 | a0001c0001t0001g0111 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.381+8519G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5469722 | ||||||
| chr18:5469773
|
A | AT | 11 | a0001c0001t0001g0019a0001c0001t0001g0021a0001c0001t0001g0089others(8): Show | 11 | HG01109.hp2 HG01169.hp2 HG01175.hp1 others(8): Show |
intron_variant | MODIFIER | c.381+8467dupA | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5469773 | ||||||
| chr18:5469773
|
AT | A | 66 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(63): Show | 66 | HG00408.hp2 HG00673.hp1 HG00733.hp2 others(63): Show |
intron_variant | MODIFIER | c.381+8467delA | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5469773 | ||||||
| chr18:5469796
|
T | C | 100 | a0001c0001t0001g0038a0001c0001t0001g0042a0001c0001t0001g0045others(97): Show | 100 | HG00323.hp1 HG00408.hp1 HG00558.hp2 others(97): Show |
intron_variant | MODIFIER | c.381+8445A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5469796 | ||||||
| chr18:5469928
|
C | T | 23 | a0001c0001t0001g0061a0001c0001t0001g0120a0001c0001t0001g0139others(20): Show | 23 | HG00673.hp2 HG00733.hp1 HG01192.hp2 others(20): Show |
intron_variant | MODIFIER | c.381+8313G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5469928 | ||||||
| chr18:5470013
|
C | T | 4 | a0001c0002t0002g0053a0001c0002t0002g0132a0001c0002t0002g0185others(1): Show | 4 | HG02896.hp1 HG02897.hp1 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.381+8228G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5470013 | ||||||
| chr18:5470069
|
T | C | 2 | a0001c0001t0001g0004a0001c0001t0001g0043 | 2 | HG01255.hp2 HG02698.hp2 |
intron_variant | MODIFIER | c.381+8172A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5470069 | ||||||
| chr18:5470313
|
T | C | 1 | a0011c0021t0002g0171 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.381+7928A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5470313 | ||||||
| chr18:5470478
|
T | C | 13 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(10): Show | 13 | HG01884.hp1 HG02145.hp1 HG02257.hp1 others(10): Show |
intron_variant | MODIFIER | c.381+7763A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5470478 | ||||||
| chr18:5470493
|
G | A | 1 | a0001c0001t0001g0133 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.381+7748C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5470493 | ||||||
| chr18:5470496
|
T | C | 10 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(7): Show | 10 | HG01884.hp1 HG02145.hp1 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.381+7745A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5470496 | ||||||
| chr18:5470763
|
G | A | 1 | a0001c0005t0004g0178 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.381+7478C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5470763 | ||||||
| chr18:5470799
|
T | C | 1 | a0001c0001t0001g0138 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.381+7442A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5470799 | ||||||
| chr18:5470853
|
G | C | 2 | a0001c0001t0002g0094a0001c0002t0002g0087 | 2 | HG02055.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.381+7388C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5470853 | ||||||
| chr18:5470920
|
A | G | 1 | a0001c0002t0002g0006 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.381+7321T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5470920 | ||||||
| chr18:5471074
|
C | A | 3 | a0001c0002t0002g0053a0001c0002t0002g0185a0001c0002t0002g0186 | 3 | HG02896.hp1 HG02897.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.381+7167G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5471074 | ||||||
| chr18:5471128
|
C | T | 4 | a0001c0001t0001g0052a0008c0009t0002g0020a0008c0009t0002g0165others(1): Show | 4 | HG02055.hp2 HG03041.hp1 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.381+7113G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5471128 | ||||||
| chr18:5471189
|
G | A | 1 | a0001c0001t0001g0205 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.381+7052C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5471189 | ||||||
| chr18:5471229
|
T | G | 1 | a0001c0002t0002g0188 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.381+7012A>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5471229 | ||||||
| chr18:5471647
|
A | C | 75 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(72): Show | 75 | HG00408.hp1 HG00408.hp2 HG00673.hp1 others(72): Show |
intron_variant | MODIFIER | c.381+6594T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5471647 | ||||||
| chr18:5471712
|
T | C | 41 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(38): Show | 41 | HG00408.hp2 HG00673.hp1 HG00733.hp2 others(38): Show |
intron_variant | MODIFIER | c.381+6529A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5471712 | ||||||
| chr18:5471766
|
C | T | 157 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(154): Show | 157 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(154): Show |
intron_variant | MODIFIER | c.381+6475G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5471766 | ||||||
| chr18:5471839
|
G | A | 5 | a0001c0001t0013g0025a0001c0002t0002g0016a0001c0002t0002g0027others(2): Show | 5 | HG01884.hp1 HG02809.hp2 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.381+6402C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5471839 | ||||||
| chr18:5471939
|
G | A | 7 | a0001c0001t0002g0011a0001c0001t0002g0176a0001c0002t0002g0012others(4): Show | 7 | HG01891.hp2 HG02109.hp1 HG02723.hp1 others(4): Show |
intron_variant | MODIFIER | c.381+6302C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5471939 | ||||||
| chr18:5471950
|
G | A | 1 | a0001c0001t0001g0057 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.381+6291C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5471950 | ||||||
| chr18:5472022
|
C | T | 157 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(154): Show | 157 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(154): Show |
intron_variant | MODIFIER | c.381+6219G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5472022 | ||||||
| chr18:5472048
|
C | T | 6 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(3): Show | 6 | HG02145.hp1 HG02257.hp1 HG02572.hp2 others(3): Show |
intron_variant | MODIFIER | c.381+6193G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5472048 | ||||||
| chr18:5472049
|
A | G | 157 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(154): Show | 157 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(154): Show |
intron_variant | MODIFIER | c.381+6192T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5472049 | ||||||
| chr18:5472078
|
G | A | 1 | a0001c0001t0001g0211 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.381+6163C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5472078 | ||||||
| chr18:5472247
|
T | A | 1 | a0001c0002t0002g0132 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.381+5994A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5472247 | ||||||
| chr18:5472411
|
T | C | 8 | a0001c0001t0013g0025a0001c0002t0001g0026a0001c0002t0002g0008others(5): Show | 8 | HG01884.hp1 HG02451.hp2 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.381+5830A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5472411 | ||||||
| chr18:5472571
|
T | C | 66 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(63): Show | 66 | HG00408.hp1 HG00408.hp2 HG00673.hp1 others(63): Show |
intron_variant | MODIFIER | c.381+5670A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5472571 | ||||||
| chr18:5472702
|
T | C | 1 | a0001c0001t0001g0134 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.381+5539A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5472702 | ||||||
| chr18:5472705
|
G | GA | 8 | a0001c0001t0013g0025a0001c0002t0001g0026a0001c0002t0002g0008others(5): Show | 8 | HG01884.hp1 HG02451.hp2 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.381+5535dupT | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5472705 | ||||||
| chr18:5472747
|
G | A | 67 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(64): Show | 67 | HG00408.hp1 HG00408.hp2 HG00673.hp1 others(64): Show |
intron_variant | MODIFIER | c.381+5494C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5472747 | ||||||
| chr18:5472843
|
G | A | 6 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(3): Show | 6 | HG02145.hp1 HG02257.hp1 HG02572.hp2 others(3): Show |
intron_variant | MODIFIER | c.381+5398C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5472843 | ||||||
| chr18:5473013
|
G | A | 1 | a0001c0001t0001g0145 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.381+5228C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5473013 | ||||||
| chr18:5473021
|
A | T | 1 | a0001c0001t0001g0145 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.381+5220T>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5473021 | ||||||
| chr18:5473051
|
T | C | 8 | a0001c0001t0013g0025a0001c0002t0001g0026a0001c0002t0002g0008others(5): Show | 8 | HG01884.hp1 HG02451.hp2 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.381+5190A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5473051 | ||||||
| chr18:5473112
|
A | G | 3 | a0001c0002t0001g0026a0001c0002t0002g0008a0001c0002t0002g0164 | 3 | HG02451.hp2 HG02922.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.381+5129T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5473112 | ||||||
| chr18:5473133
|
T | C | 8 | a0001c0001t0001g0181a0001c0001t0001g0212a0001c0001t0001g0213others(5): Show | 8 | HG01884.hp2 HG02486.hp2 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.381+5108A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5473133 | ||||||
| chr18:5473148
|
G | A | 3 | a0001c0002t0001g0026a0001c0002t0002g0008a0001c0002t0002g0164 | 3 | HG02451.hp2 HG02922.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.381+5093C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5473148 | ||||||
| chr18:5473427
|
T | C | 50 | a0001c0001t0001g0038a0001c0001t0001g0042a0001c0001t0001g0045others(47): Show | 50 | HG00323.hp1 HG00558.hp2 HG01175.hp1 others(47): Show |
intron_variant | MODIFIER | c.381+4814A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5473427 | ||||||
| chr18:5473646
|
G | A | 17 | a0001c0001t0001g0061a0001c0001t0001g0105a0001c0001t0001g0120others(14): Show | 17 | HG00408.hp1 HG00673.hp2 HG00733.hp1 others(14): Show |
intron_variant | MODIFIER | c.381+4595C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5473646 | ||||||
| chr18:5473649
|
T | C | 3 | a0001c0002t0001g0026a0001c0002t0002g0008a0001c0002t0002g0164 | 3 | HG02451.hp2 HG02922.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.381+4592A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5473649 | ||||||
| chr18:5473726
|
T | C | 154 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(151): Show | 154 | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(151): Show |
intron_variant | MODIFIER | c.381+4515A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5473726 | ||||||
| chr18:5473751
|
G | A | 1 | a0001c0001t0001g0195 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.381+4490C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5473751 | ||||||
| chr18:5473858
|
A | C | 159 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(156): Show | 159 | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(156): Show |
intron_variant | MODIFIER | c.381+4383T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5473858 | ||||||
| chr18:5474091
|
C | T | 1 | a0001c0001t0001g0160 | 1 | NA18978.hp2 | intron_variant | MODIFIER | c.381+4150G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5474091 | ||||||
| chr18:5474092
|
G | A | 1 | a0001c0002t0002g0027 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.381+4149C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5474092 | ||||||
| chr18:5474154
|
A | C | 1 | a0001c0001t0002g0123 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.381+4087T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5474154 | ||||||
| chr18:5474163
|
G | A | 1 | a0001c0001t0001g0180 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.381+4078C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5474163 | ||||||
| chr18:5474179
|
C | T | 5 | a0001c0001t0013g0025a0001c0002t0002g0016a0001c0002t0002g0027others(2): Show | 5 | HG01884.hp1 HG02809.hp2 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.381+4062G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5474179 | ||||||
| chr18:5474185
|
C | T | 2 | a0001c0001t0001g0004a0001c0001t0001g0043 | 2 | HG01255.hp2 HG02698.hp2 |
intron_variant | MODIFIER | c.381+4056G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5474185 | ||||||
| chr18:5474186
|
G | T | 1 | a0002c0003t0003g0080 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.381+4055C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5474186 | ||||||
| chr18:5474187
|
C | T | 1 | a0002c0003t0003g0080 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.381+4054G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5474187 | ||||||
| chr18:5474218
|
C | G | 157 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(154): Show | 157 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(154): Show |
intron_variant | MODIFIER | c.381+4023G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5474218 | ||||||
| chr18:5474364
|
T | G | 8 | a0001c0002t0001g0215a0001c0002t0002g0069a0001c0002t0002g0071others(5): Show | 8 | HG01175.hp2 HG01243.hp1 HG02109.hp2 others(5): Show |
intron_variant | MODIFIER | c.381+3877A>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5474364 | ||||||
| chr18:5474432
|
G | A | 1 | a0001c0001t0001g0120 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.381+3809C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5474432 | ||||||
| chr18:5474566
|
T | C | 15 | a0001c0001t0001g0034a0001c0001t0001g0051a0001c0001t0002g0094others(12): Show | 15 | HG01106.hp1 HG02055.hp1 HG02258.hp2 others(12): Show |
intron_variant | MODIFIER | c.381+3675A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5474566 | ||||||
| chr18:5474570
|
C | T | 157 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(154): Show | 157 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(154): Show |
intron_variant | MODIFIER | c.381+3671G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5474570 | ||||||
| chr18:5474612
|
AT | A | 6 | a0001c0001t0001g0010a0001c0002t0001g0041a0001c0002t0002g0040others(3): Show | 6 | HG02886.hp1 HG02886.hp2 HG03209.hp2 others(3): Show |
intron_variant | MODIFIER | c.381+3628delA | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5474612 | ||||||
| chr18:5474985
|
G | T | 192 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(189): Show | 192 | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(189): Show |
intron_variant | MODIFIER | c.381+3256C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5474985 | ||||||
| chr18:5475238
|
T | A | 6 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(3): Show | 6 | HG02145.hp1 HG02257.hp1 HG02572.hp2 others(3): Show |
intron_variant | MODIFIER | c.381+3003A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5475238 | ||||||
| chr18:5475240
|
T | A | 6 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(3): Show | 6 | HG02145.hp1 HG02257.hp1 HG02572.hp2 others(3): Show |
intron_variant | MODIFIER | c.381+3001A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5475240 | ||||||
| chr18:5475272
|
G | T | 157 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(154): Show | 157 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(154): Show |
intron_variant | MODIFIER | c.381+2969C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5475272 | ||||||
| chr18:5475389
|
C | CA | 62 | a0001c0001t0001g0038a0001c0001t0001g0042a0001c0001t0001g0045others(59): Show | 62 | HG00558.hp2 HG01175.hp1 HG01361.hp1 others(59): Show |
intron_variant | MODIFIER | c.381+2851dupT | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5475389 | ||||||
| chr18:5475429
|
G | A | 48 | a0001c0001t0001g0038a0001c0001t0001g0042a0001c0001t0001g0045others(45): Show | 48 | HG00558.hp2 HG01175.hp1 HG01361.hp1 others(45): Show |
intron_variant | MODIFIER | c.381+2812C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5475429 | ||||||
| chr18:5475471
|
C | T | 21 | a0001c0001t0001g0034a0001c0001t0001g0051a0001c0001t0001g0057others(18): Show | 21 | HG01106.hp1 HG02055.hp1 HG02145.hp1 others(18): Show |
intron_variant | MODIFIER | c.381+2770G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5475471 | ||||||
| chr18:5475535
|
T | C | 1 | a0001c0005t0004g0178 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.381+2706A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5475535 | ||||||
| chr18:5475593
|
A | G | 1 | a0001c0002t0002g0222 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.381+2648T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5475593 | ||||||
| chr18:5475654
|
C | T | 1 | a0002c0003t0003g0080 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.381+2587G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5475654 | ||||||
| chr18:5475678
|
T | C | 70 | a0001c0001t0001g0038a0001c0001t0001g0042a0001c0001t0001g0045others(67): Show | 70 | HG00558.hp2 HG01175.hp1 HG01361.hp1 others(67): Show |
intron_variant | MODIFIER | c.381+2563A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5475678 | ||||||
| chr18:5475747
|
A | G | 76 | a0001c0001t0001g0034a0001c0001t0001g0038a0001c0001t0001g0042others(73): Show | 76 | HG00558.hp2 HG01106.hp1 HG01175.hp1 others(73): Show |
intron_variant | MODIFIER | c.381+2494T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5475747 | ||||||
| chr18:5475779
|
T | G | 1 | a0003c0010t0007g0074 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.381+2462A>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5475779 | ||||||
| chr18:5475932
|
C | T | 17 | a0001c0001t0001g0061a0001c0001t0001g0105a0001c0001t0001g0120others(14): Show | 17 | HG00408.hp1 HG00673.hp2 HG00733.hp1 others(14): Show |
intron_variant | MODIFIER | c.381+2309G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5475932 | ||||||
| chr18:5475955
|
C | T | 59 | a0001c0001t0001g0038a0001c0001t0001g0042a0001c0001t0001g0045others(56): Show | 59 | HG01175.hp1 HG01361.hp1 HG01433.hp2 others(56): Show |
intron_variant | MODIFIER | c.381+2286G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5475955 | ||||||
| chr18:5476071
|
C | A | 1 | a0001c0001t0001g0002 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.381+2170G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5476071 | ||||||
| chr18:5476135
|
G | T | 1 | a0013c0016t0001g0152 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.381+2106C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5476135 | ||||||
| chr18:5476385
|
A | T | 1 | a0002c0022t0001g0082 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.381+1856T>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5476385 | ||||||
| chr18:5476400
|
A | T | 1 | a0001c0002t0002g0172 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.381+1841T>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5476400 | ||||||
| chr18:5476631
|
A | T | 136 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(133): Show | 136 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(133): Show |
intron_variant | MODIFIER | c.381+1610T>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5476631 | ||||||
| chr18:5476632
|
A | C | 136 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(133): Show | 136 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(133): Show |
intron_variant | MODIFIER | c.381+1609T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5476632 | ||||||
| chr18:5476715
|
A | C | 1 | a0001c0001t0001g0195 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.381+1526T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5476715 | ||||||
| chr18:5476851
|
G | C | 4 | a0001c0001t0002g0011a0001c0001t0002g0176a0002c0003t0002g0009others(1): Show | 4 | HG01891.hp2 HG02109.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.381+1390C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5476851 | ||||||
| chr18:5477023
|
A | C | 1 | a0001c0002t0002g0172 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.381+1218T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5477023 | ||||||
| chr18:5477033
|
T | C | 1 | a0001c0001t0001g0197 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.381+1208A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5477033 | ||||||
| chr18:5477373
|
G | A | 3 | a0001c0012t0001g0093a0002c0003t0002g0174a0003c0004t0002g0173 | 3 | HG01106.hp1 HG02647.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.381+868C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5477373 | ||||||
| chr18:5477591
|
C | T | 1 | a0001c0002t0002g0170 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.381+650G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5477591 | ||||||
| chr18:5477710
|
T | G | 79 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(76): Show | 79 | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(76): Show |
intron_variant | MODIFIER | c.381+531A>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5477710 | ||||||
| chr18:5477771
|
T | C | 182 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(179): Show | 182 | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(179): Show |
intron_variant | MODIFIER | c.381+470A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5477771 | ||||||
| chr18:5477882
|
A | G | 182 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(179): Show | 182 | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(179): Show |
intron_variant | MODIFIER | c.381+359T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5477882 | ||||||
| chr18:5477960
|
A | C | 1 | a0013c0016t0001g0152 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.381+281T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5477960 | ||||||
| chr18:5478082
|
T | C | 1 | a0004c0006t0002g0200 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.381+159A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5478082 | ||||||
| chr18:5478092
|
C | G | 219 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(216): Show | 219 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(216): Show |
intron_variant | MODIFIER | c.381+149G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | 5478092 | ||||||
| chr18:5478761
|
C | T | 87 | a0001c0001t0001g0002a0001c0001t0001g0019a0001c0001t0001g0038others(84): Show | 87 | HG00323.hp1 HG00323.hp2 HG00673.hp1 others(84): Show |
intron_variant | MODIFIER | c.184-323G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5478761 | ||||||
| chr18:5479045
|
T | C | 6 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(3): Show | 6 | HG02145.hp1 HG02257.hp1 HG02572.hp2 others(3): Show |
intron_variant | MODIFIER | c.184-607A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5479045 | ||||||
| chr18:5479094
|
A | G | 37 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(34): Show | 37 | HG00408.hp2 HG00733.hp2 HG00735.hp1 others(34): Show |
intron_variant | MODIFIER | c.184-656T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5479094 | ||||||
| chr18:5479160
|
C | A | 87 | a0001c0001t0001g0002a0001c0001t0001g0019a0001c0001t0001g0038others(84): Show | 87 | HG00323.hp1 HG00323.hp2 HG00673.hp1 others(84): Show |
intron_variant | MODIFIER | c.184-722G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5479160 | ||||||
| chr18:5479176
|
T | C | 1 | a0009c0023t0005g0014 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.184-738A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5479176 | ||||||
| chr18:5479186
|
C | G | 87 | a0001c0001t0001g0002a0001c0001t0001g0019a0001c0001t0001g0038others(84): Show | 87 | HG00323.hp1 HG00323.hp2 HG00673.hp1 others(84): Show |
intron_variant | MODIFIER | c.184-748G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5479186 | ||||||
| chr18:5479288
|
G | C | 9 | a0001c0001t0001g0017a0001c0001t0001g0021a0001c0001t0001g0024others(6): Show | 9 | HG01169.hp1 HG01257.hp1 HG01433.hp1 others(6): Show |
intron_variant | MODIFIER | c.184-850C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5479288 | ||||||
| chr18:5479388
|
C | T | 2 | a0001c0001t0001g0181a0001c0002t0002g0216 | 2 | HG02897.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.184-950G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5479388 | ||||||
| chr18:5479396
|
C | A | 174 | a0001c0001t0001g0002a0001c0001t0001g0017a0001c0001t0001g0019others(171): Show | 174 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(171): Show |
intron_variant | MODIFIER | c.184-958G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5479396 | ||||||
| chr18:5479487
|
C | G | 38 | a0001c0001t0001g0038a0001c0001t0001g0042a0001c0001t0001g0045others(35): Show | 38 | HG00323.hp1 HG01175.hp1 HG01891.hp1 others(35): Show |
intron_variant | MODIFIER | c.184-1049G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5479487 | ||||||
| chr18:5479583
|
A | G | 52 | a0001c0001t0001g0002a0001c0001t0001g0019a0001c0001t0001g0048others(49): Show | 52 | HG00323.hp1 HG00323.hp2 HG00673.hp1 others(49): Show |
intron_variant | MODIFIER | c.184-1145T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5479583 | ||||||
| chr18:5479760
|
TA | T | 173 | a0001c0001t0001g0002a0001c0001t0001g0017a0001c0001t0001g0019others(170): Show | 173 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(170): Show |
intron_variant | MODIFIER | c.184-1323delT | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5479760 | ||||||
| chr18:5479948
|
CAAT | C | 7 | a0001c0002t0002g0053a0001c0002t0002g0172a0001c0002t0002g0185others(4): Show | 7 | HG02055.hp2 HG02451.hp1 HG02896.hp1 others(4): Show |
intron_variant | MODIFIER | c.184-1513_184-1511d others(5): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5479948 | ||||||
| chr18:5480016
|
C | A | 105 | a0001c0001t0001g0017a0001c0001t0001g0021a0001c0001t0001g0024others(102): Show | 105 | HG00323.hp1 HG00408.hp1 HG00558.hp1 others(102): Show |
intron_variant | MODIFIER | c.184-1578G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5480016 | ||||||
| chr18:5480026
|
A | AAAGGTCA others(12): Show |
1 | a0001c0001t0001g0043 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.184-1607_184-1589d others(21): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5480026 | ||||||
| chr18:5480031
|
T | C | 28 | a0001c0001t0001g0017a0001c0001t0001g0021a0001c0001t0001g0024others(25): Show | 28 | HG00558.hp1 HG00738.hp1 HG00738.hp2 others(25): Show |
intron_variant | MODIFIER | c.184-1593A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5480031 | ||||||
| chr18:5480199
|
C | T | 212 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(209): Show | 212 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(209): Show |
intron_variant | MODIFIER | c.184-1761G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5480199 | ||||||
| chr18:5480461
|
T | C | 150 | a0001c0001t0001g0002a0001c0001t0001g0017a0001c0001t0001g0019others(147): Show | 150 | HG00323.hp1 HG00323.hp2 HG00558.hp1 others(147): Show |
intron_variant | MODIFIER | c.184-2023A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5480461 | ||||||
| chr18:5480462
|
G | A | 149 | a0001c0001t0001g0002a0001c0001t0001g0017a0001c0001t0001g0019others(146): Show | 149 | HG00323.hp1 HG00323.hp2 HG00558.hp1 others(146): Show |
intron_variant | MODIFIER | c.184-2024C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5480462 | ||||||
| chr18:5480542
|
G | A | 134 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(131): Show | 134 | HG00323.hp2 HG00558.hp1 HG00673.hp1 others(131): Show |
intron_variant | MODIFIER | c.184-2104C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5480542 | ||||||
| chr18:5480617
|
A | G | 1 | a0001c0002t0002g0170 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.184-2179T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5480617 | ||||||
| chr18:5480662
|
C | G | 29 | a0001c0001t0001g0017a0001c0001t0001g0021a0001c0001t0001g0024others(26): Show | 29 | HG00558.hp1 HG00738.hp1 HG00738.hp2 others(26): Show |
intron_variant | MODIFIER | c.184-2224G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5480662 | ||||||
| chr18:5480936
|
T | C | 2 | a0001c0002t0002g0008a0001c0002t0002g0164 | 2 | HG02451.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.184-2498A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5480936 | ||||||
| chr18:5481085
|
T | A | 1 | a0001c0001t0001g0051 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.184-2647A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5481085 | ||||||
| chr18:5481224
|
A | G | 9 | a0001c0002t0001g0215a0001c0002t0002g0047a0001c0002t0002g0069others(6): Show | 9 | HG01175.hp2 HG01243.hp1 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.184-2786T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5481224 | ||||||
| chr18:5481280
|
A | C | 16 | a0001c0001t0001g0057a0001c0001t0001g0133a0001c0001t0002g0011others(13): Show | 16 | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(13): Show |
intron_variant | MODIFIER | c.184-2842T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5481280 | ||||||
| chr18:5481518
|
G | A | 1 | a0001c0001t0001g0211 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.184-3080C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5481518 | ||||||
| chr18:5481604
|
G | C | 31 | a0001c0001t0001g0038a0001c0001t0001g0042a0001c0001t0001g0103others(28): Show | 31 | HG00323.hp1 HG00408.hp1 HG00558.hp2 others(28): Show |
intron_variant | MODIFIER | c.184-3166C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5481604 | ||||||
| chr18:5481751
|
C | T | 1 | a0001c0002t0002g0172 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.184-3313G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5481751 | ||||||
| chr18:5481783
|
A | ATCCCTTT others(6): Show |
9 | a0001c0002t0001g0215a0001c0002t0002g0047a0001c0002t0002g0069others(6): Show | 9 | HG01175.hp2 HG01243.hp1 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.184-3346_184-3345i others(15): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5481783 | ||||||
| chr18:5481812
|
A | G | 9 | a0001c0002t0001g0215a0001c0002t0002g0047a0001c0002t0002g0069others(6): Show | 9 | HG01175.hp2 HG01243.hp1 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.184-3374T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5481812 | ||||||
| chr18:5481858
|
G | A | 1 | a0001c0001t0001g0154 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.184-3420C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5481858 | ||||||
| chr18:5481870
|
G | A | 1 | a0003c0004t0005g0107 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.184-3432C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5481870 | ||||||
| chr18:5481871
|
C | A | 1 | a0003c0004t0005g0107 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.184-3433G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5481871 | ||||||
| chr18:5481903
|
A | G | 1 | a0001c0001t0002g0058 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.184-3465T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5481903 | ||||||
| chr18:5482059
|
T | C | 9 | a0001c0002t0001g0215a0001c0002t0002g0047a0001c0002t0002g0069others(6): Show | 9 | HG01175.hp2 HG01243.hp1 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.184-3621A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5482059 | ||||||
| chr18:5482093
|
G | T | 1 | a0001c0001t0001g0182 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.184-3655C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5482093 | ||||||
| chr18:5482215
|
T | C | 1 | a0002c0014t0002g0196 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.184-3777A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5482215 | ||||||
| chr18:5482248
|
T | C | 3 | a0001c0002t0002g0053a0001c0002t0002g0185a0001c0002t0002g0186 | 3 | HG02896.hp1 HG02897.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.184-3810A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5482248 | ||||||
| chr18:5482278
|
T | C | 3 | a0001c0002t0002g0053a0001c0002t0002g0185a0001c0002t0002g0186 | 3 | HG02896.hp1 HG02897.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.184-3840A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5482278 | ||||||
| chr18:5482307
|
C | A | 9 | a0001c0002t0001g0215a0001c0002t0002g0047a0001c0002t0002g0069others(6): Show | 9 | HG01175.hp2 HG01243.hp1 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.184-3869G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5482307 | ||||||
| chr18:5482385
|
T | C | 2 | a0001c0002t0002g0008a0001c0002t0002g0164 | 2 | HG02451.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.184-3947A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5482385 | ||||||
| chr18:5482437
|
C | G | 29 | a0001c0001t0001g0038a0001c0001t0001g0042a0001c0001t0001g0103others(26): Show | 29 | HG00408.hp1 HG00558.hp2 HG00733.hp1 others(26): Show |
intron_variant | MODIFIER | c.184-3999G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5482437 | ||||||
| chr18:5482496
|
A | G | 1 | a0001c0001t0001g0179 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.184-4058T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5482496 | ||||||
| chr18:5482584
|
A | G | 25 | a0001c0001t0001g0045a0001c0001t0001g0052a0001c0001t0001g0101others(22): Show | 25 | HG01884.hp1 HG02074.hp1 HG02135.hp1 others(22): Show |
intron_variant | MODIFIER | c.184-4146T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5482584 | ||||||
| chr18:5482774
|
T | C | 91 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(88): Show | 91 | HG00735.hp1 HG00735.hp2 HG01074.hp1 others(88): Show |
intron_variant | MODIFIER | c.184-4336A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5482774 | ||||||
| chr18:5482910
|
G | T | 2 | a0001c0001t0002g0094a0001c0002t0002g0087 | 2 | HG02055.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.184-4472C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5482910 | ||||||
| chr18:5482932
|
T | C | 214 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(211): Show | 214 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(211): Show |
intron_variant | MODIFIER | c.184-4494A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5482932 | ||||||
| chr18:5483105
|
A | G | 9 | a0001c0002t0001g0215a0001c0002t0002g0047a0001c0002t0002g0069others(6): Show | 9 | HG01175.hp2 HG01243.hp1 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.184-4667T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5483105 | ||||||
| chr18:5483166
|
T | C | 25 | a0001c0001t0001g0045a0001c0001t0001g0052a0001c0001t0001g0101others(22): Show | 25 | HG01884.hp1 HG02074.hp1 HG02135.hp1 others(22): Show |
intron_variant | MODIFIER | c.184-4728A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5483166 | ||||||
| chr18:5483219
|
T | A | 1 | a0001c0002t0012g0067 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.184-4781A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5483219 | ||||||
| chr18:5483292
|
A | G | 3 | a0001c0002t0002g0053a0001c0002t0002g0185a0001c0002t0002g0186 | 3 | HG02896.hp1 HG02897.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.184-4854T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5483292 | ||||||
| chr18:5483623
|
G | GA | 5 | a0001c0001t0001g0048a0001c0001t0001g0129a0001c0001t0001g0140others(2): Show | 5 | HG01074.hp2 HG01978.hp2 HG04228.hp1 others(2): Show |
intron_variant | MODIFIER | c.184-5186dupT | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5483623 | ||||||
| chr18:5483624
|
A | G | 32 | a0001c0001t0001g0045a0001c0001t0001g0052a0001c0001t0001g0101others(29): Show | 32 | HG00735.hp2 HG01884.hp1 HG02055.hp2 others(29): Show |
intron_variant | MODIFIER | c.184-5186T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5483624 | ||||||
| chr18:5483625
|
A | G | 25 | a0001c0001t0001g0045a0001c0001t0001g0052a0001c0001t0001g0101others(22): Show | 25 | HG01884.hp1 HG02074.hp1 HG02135.hp1 others(22): Show |
intron_variant | MODIFIER | c.184-5187T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5483625 | ||||||
| chr18:5483707
|
G | A | 1 | a0001c0001t0001g0021 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.184-5269C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5483707 | ||||||
| chr18:5483750
|
G | A | 17 | a0001c0001t0001g0057a0001c0001t0001g0133a0001c0001t0002g0011others(14): Show | 17 | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.183+5251C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5483750 | ||||||
| chr18:5483798
|
C | T | 2 | a0001c0002t0002g0037a0004c0006t0002g0092 | 2 | HG02818.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.183+5203G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5483798 | ||||||
| chr18:5483931
|
A | G | 2 | a0001c0002t0002g0008a0001c0002t0002g0164 | 2 | HG02451.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.183+5070T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5483931 | ||||||
| chr18:5484036
|
C | T | 9 | a0001c0002t0001g0215a0001c0002t0002g0047a0001c0002t0002g0069others(6): Show | 9 | HG01175.hp2 HG01243.hp1 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.183+4965G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5484036 | ||||||
| chr18:5484073
|
G | T | 2 | a0001c0001t0001g0129a0001c0001t0006g0091 | 2 | HG01978.hp2 HG02300.hp1 |
intron_variant | MODIFIER | c.183+4928C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5484073 | ||||||
| chr18:5484086
|
C | CA | 8 | a0001c0001t0001g0021a0001c0001t0001g0128a0001c0002t0002g0186others(5): Show | 8 | HG01433.hp1 HG02280.hp2 HG02572.hp2 others(5): Show |
intron_variant | MODIFIER | c.183+4914dupT | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5484086 | ||||||
| chr18:5484086
|
CA | C | 46 | a0001c0001t0001g0024a0001c0001t0001g0038a0001c0001t0001g0046others(43): Show | 46 | HG00323.hp1 HG00408.hp2 HG00558.hp2 others(43): Show |
intron_variant | MODIFIER | c.183+4914delT | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5484086 | ||||||
| chr18:5484086
|
CAA | C | 48 | a0001c0001t0001g0002a0001c0001t0001g0019a0001c0001t0001g0034others(45): Show | 48 | HG00323.hp2 HG00408.hp1 HG00558.hp1 others(45): Show |
intron_variant | MODIFIER | c.183+4913_183+4914d others(4): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5484086 | ||||||
| chr18:5484086
|
CAAA | C | 10 | a0001c0001t0001g0030a0001c0001t0001g0077a0001c0001t0001g0121others(7): Show | 10 | HG01074.hp1 HG01106.hp2 HG01981.hp2 others(7): Show |
intron_variant | MODIFIER | c.183+4912_183+4914d others(5): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5484086 | ||||||
| chr18:5484086
|
CAAAA | C | 11 | a0001c0001t0001g0043a0001c0001t0001g0051a0001c0001t0001g0083others(8): Show | 11 | HG01243.hp2 HG01257.hp2 HG01258.hp1 others(8): Show |
intron_variant | MODIFIER | c.183+4911_183+4914d others(6): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5484086 | ||||||
| chr18:5484086
|
CAAAAA | C | 13 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0141others(10): Show | 13 | HG00735.hp1 HG00735.hp2 HG01081.hp2 others(10): Show |
intron_variant | MODIFIER | c.183+4910_183+4914d others(7): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5484086 | ||||||
| chr18:5484086
|
CAAAAAAA | C | 11 | a0001c0001t0001g0194a0001c0001t0001g0219a0001c0002t0002g0027others(8): Show | 11 | HG01884.hp1 HG02055.hp2 HG02074.hp1 others(8): Show |
intron_variant | MODIFIER | c.183+4908_183+4914d others(9): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5484086 | ||||||
| chr18:5484086
|
CAAAAAAA others(1): Show |
C | 36 | a0001c0001t0001g0045a0001c0001t0001g0052a0001c0001t0001g0057others(33): Show | 36 | HG01891.hp2 HG02109.hp1 HG02135.hp1 others(33): Show |
intron_variant | MODIFIER | c.183+4907_183+4914d others(10): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5484086 | ||||||
| chr18:5484086
|
CAAAAAAA others(3): Show |
C | 2 | a0001c0002t0002g0008a0001c0002t0002g0164 | 2 | HG02451.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.183+4905_183+4914d others(12): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5484086 | ||||||
| chr18:5484086
|
CAAAAAAA others(7): Show |
C | 1 | a0001c0002t0002g0033 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.183+4901_183+4914d others(16): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5484086 | ||||||
| chr18:5484086
|
CAAAAAAA others(8): Show |
C | 1 | a0001c0001t0006g0202 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.183+4900_183+4914d others(17): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5484086 | ||||||
| chr18:5484086
|
CAAAAAAA others(9): Show |
C | 1 | a0001c0001t0002g0206 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.183+4899_183+4914d others(18): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5484086 | ||||||
| chr18:5484093
|
A | AC | 8 | a0001c0002t0001g0215a0001c0002t0002g0047a0001c0002t0002g0069others(5): Show | 8 | HG01243.hp1 HG02109.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.183+4907_183+4908i others(3): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5484093 | ||||||
| chr18:5484099
|
A | C | 1 | a0004c0006t0002g0072 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.183+4902T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5484099 | ||||||
| chr18:5484100
|
A | C | 8 | a0001c0002t0001g0215a0001c0002t0002g0047a0001c0002t0002g0069others(5): Show | 8 | HG01243.hp1 HG02109.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.183+4901T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5484100 | ||||||
| chr18:5484105
|
A | C | 1 | a0004c0006t0002g0072 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.183+4896T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5484105 | ||||||
| chr18:5484106
|
A | C | 8 | a0001c0002t0001g0215a0001c0002t0002g0047a0001c0002t0002g0069others(5): Show | 8 | HG01243.hp1 HG02109.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.183+4895T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5484106 | ||||||
| chr18:5484110
|
A | C | 23 | a0001c0001t0001g0057a0001c0001t0001g0133a0001c0001t0002g0011others(20): Show | 23 | HG01891.hp2 HG02055.hp2 HG02109.hp1 others(20): Show |
intron_variant | MODIFIER | c.183+4891T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5484110 | ||||||
| chr18:5484111
|
A | C | 31 | a0001c0001t0001g0045a0001c0001t0001g0052a0001c0001t0001g0101others(28): Show | 31 | HG01884.hp1 HG02055.hp2 HG02074.hp1 others(28): Show |
intron_variant | MODIFIER | c.183+4890T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5484111 | ||||||
| chr18:5484112
|
A | C | 25 | a0001c0001t0001g0045a0001c0001t0001g0052a0001c0001t0001g0101others(22): Show | 25 | HG01884.hp1 HG02074.hp1 HG02135.hp1 others(22): Show |
intron_variant | MODIFIER | c.183+4889T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5484112 | ||||||
| chr18:5484253
|
A | G | 1 | a0001c0001t0001g0208 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.183+4748T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5484253 | ||||||
| chr18:5484254
|
G | C | 32 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(29): Show | 32 | HG00735.hp1 HG00735.hp2 HG01074.hp1 others(29): Show |
intron_variant | MODIFIER | c.183+4747C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5484254 | ||||||
| chr18:5484310
|
T | A | 5 | a0001c0001t0001g0019a0002c0003t0003g0115a0002c0003t0003g0147others(2): Show | 5 | HG00323.hp2 HG01081.hp1 HG01169.hp2 others(2): Show |
intron_variant | MODIFIER | c.183+4691A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5484310 | ||||||
| chr18:5484519
|
T | TA | 56 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(53): Show | 56 | HG00735.hp1 HG00735.hp2 HG01074.hp1 others(53): Show |
intron_variant | MODIFIER | c.183+4481dupT | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5484519 | ||||||
| chr18:5484519
|
T | TAAAAAA | 8 | a0001c0002t0001g0215a0001c0002t0002g0069a0001c0002t0002g0071others(5): Show | 8 | HG01175.hp2 HG01243.hp1 HG02109.hp2 others(5): Show |
intron_variant | MODIFIER | c.183+4476_183+4481d others(8): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5484519 | ||||||
| chr18:5484532
|
C | T | 2 | a0001c0002t0002g0008a0001c0002t0002g0164 | 2 | HG02451.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.183+4469G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5484532 | ||||||
| chr18:5484737
|
A | G | 3 | a0001c0002t0002g0130a0001c0002t0002g0131a0009c0023t0005g0014 | 3 | HG02280.hp1 HG02486.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.183+4264T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5484737 | ||||||
| chr18:5484988
|
C | G | 5 | a0001c0001t0001g0019a0002c0003t0003g0115a0002c0003t0003g0147others(2): Show | 5 | HG00323.hp2 HG01081.hp1 HG01169.hp2 others(2): Show |
intron_variant | MODIFIER | c.183+4013G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5484988 | ||||||
| chr18:5484991
|
G | A | 17 | a0001c0001t0001g0057a0001c0001t0001g0133a0001c0001t0002g0011others(14): Show | 17 | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.183+4010C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5484991 | ||||||
| chr18:5485076
|
C | A | 5 | a0001c0001t0001g0203a0001c0001t0001g0207a0005c0007t0001g0189others(2): Show | 5 | HG00558.hp1 HG02698.hp1 NA18961.hp2 others(2): Show |
intron_variant | MODIFIER | c.183+3925G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5485076 | ||||||
| chr18:5485197
|
A | C | 98 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(95): Show | 98 | HG00735.hp1 HG00735.hp2 HG01074.hp1 others(95): Show |
intron_variant | MODIFIER | c.183+3804T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5485197 | ||||||
| chr18:5485325
|
A | T | 1 | a0001c0001t0001g0141 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.183+3676T>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5485325 | ||||||
| chr18:5485377
|
C | A | 17 | a0001c0001t0001g0057a0001c0001t0001g0133a0001c0001t0002g0011others(14): Show | 17 | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.183+3624G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5485377 | ||||||
| chr18:5485513
|
GAAAT | G | 3 | a0008c0009t0002g0020a0008c0009t0002g0165a0015c0013t0001g0125 | 3 | HG02055.hp2 HG03579.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.183+3484_183+3487d others(6): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5485513 | ||||||
| chr18:5485649
|
T | C | 9 | a0001c0002t0001g0215a0001c0002t0002g0047a0001c0002t0002g0069others(6): Show | 9 | HG01175.hp2 HG01243.hp1 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.183+3352A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5485649 | ||||||
| chr18:5485663
|
A | G | 4 | a0001c0001t0001g0077a0001c0001t0003g0081a0002c0003t0003g0078others(1): Show | 4 | HG01074.hp1 HG01192.hp1 HG02300.hp2 others(1): Show |
intron_variant | MODIFIER | c.183+3338T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5485663 | ||||||
| chr18:5485701
|
A | G | 3 | a0008c0009t0002g0020a0008c0009t0002g0165a0015c0013t0001g0125 | 3 | HG02055.hp2 HG03579.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.183+3300T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5485701 | ||||||
| chr18:5485730
|
C | A | 9 | a0001c0002t0001g0215a0001c0002t0002g0047a0001c0002t0002g0069others(6): Show | 9 | HG01175.hp2 HG01243.hp1 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.183+3271G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5485730 | ||||||
| chr18:5485750
|
A | C | 1 | a0001c0001t0013g0025 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.183+3251T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5485750 | ||||||
| chr18:5485814
|
A | C | 1 | a0001c0001t0001g0043 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.183+3187T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5485814 | ||||||
| chr18:5485867
|
G | A | 8 | a0001c0001t0001g0060a0001c0001t0001g0159a0001c0001t0001g0160others(5): Show | 8 | HG03831.hp1 NA18942.hp1 NA18965.hp2 others(5): Show |
intron_variant | MODIFIER | c.183+3134C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5485867 | ||||||
| chr18:5485935
|
GTAAATT | G | 9 | a0001c0002t0001g0215a0001c0002t0002g0047a0001c0002t0002g0069others(6): Show | 9 | HG01175.hp2 HG01243.hp1 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.183+3060_183+3065d others(8): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5485935 | ||||||
| chr18:5485945
|
T | TCC | 9 | a0001c0002t0001g0215a0001c0002t0002g0047a0001c0002t0002g0069others(6): Show | 9 | HG01175.hp2 HG01243.hp1 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.183+3055_183+3056i others(4): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5485945 | ||||||
| chr18:5485946
|
G | C | 9 | a0001c0002t0001g0215a0001c0002t0002g0047a0001c0002t0002g0069others(6): Show | 9 | HG01175.hp2 HG01243.hp1 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.183+3055C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5485946 | ||||||
| chr18:5485968
|
C | G | 9 | a0001c0002t0001g0215a0001c0002t0002g0047a0001c0002t0002g0069others(6): Show | 9 | HG01175.hp2 HG01243.hp1 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.183+3033G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5485968 | ||||||
| chr18:5486083
|
T | C | 1 | a0001c0002t0001g0026 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.183+2918A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5486083 | ||||||
| chr18:5486245
|
C | T | 59 | a0001c0001t0001g0045a0001c0001t0001g0052a0001c0001t0001g0057others(56): Show | 59 | HG01175.hp2 HG01243.hp1 HG01884.hp1 others(56): Show |
intron_variant | MODIFIER | c.183+2756G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5486245 | ||||||
| chr18:5486364
|
A | G | 24 | a0001c0001t0001g0045a0001c0001t0001g0052a0001c0001t0001g0101others(21): Show | 24 | HG01884.hp1 HG02074.hp1 HG02135.hp1 others(21): Show |
intron_variant | MODIFIER | c.183+2637T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5486364 | ||||||
| chr18:5486365
|
C | A | 24 | a0001c0001t0001g0045a0001c0001t0001g0052a0001c0001t0001g0101others(21): Show | 24 | HG01884.hp1 HG02074.hp1 HG02135.hp1 others(21): Show |
intron_variant | MODIFIER | c.183+2636G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5486365 | ||||||
| chr18:5486431
|
GT | G | 31 | a0001c0001t0001g0045a0001c0001t0001g0052a0001c0001t0001g0101others(28): Show | 31 | HG01884.hp1 HG02055.hp2 HG02074.hp1 others(28): Show |
intron_variant | MODIFIER | c.183+2569delA | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5486431 | ||||||
| chr18:5486442
|
G | A | 9 | a0001c0002t0001g0215a0001c0002t0002g0047a0001c0002t0002g0069others(6): Show | 9 | HG01175.hp2 HG01243.hp1 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.183+2559C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5486442 | ||||||
| chr18:5486756
|
A | G | 17 | a0001c0001t0001g0057a0001c0001t0001g0133a0001c0001t0002g0011others(14): Show | 17 | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.183+2245T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5486756 | ||||||
| chr18:5486830
|
A | C | 1 | a0001c0002t0002g0172 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.183+2171T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5486830 | ||||||
| chr18:5486891
|
A | G | 9 | a0001c0002t0001g0215a0001c0002t0002g0047a0001c0002t0002g0069others(6): Show | 9 | HG01175.hp2 HG01243.hp1 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.183+2110T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5486891 | ||||||
| chr18:5486926
|
T | C | 59 | a0001c0001t0001g0045a0001c0001t0001g0052a0001c0001t0001g0057others(56): Show | 59 | HG01175.hp2 HG01243.hp1 HG01884.hp1 others(56): Show |
intron_variant | MODIFIER | c.183+2075A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5486926 | ||||||
| chr18:5487030
|
G | A | 16 | a0001c0001t0001g0057a0001c0001t0001g0133a0001c0001t0002g0011others(13): Show | 16 | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(13): Show |
intron_variant | MODIFIER | c.183+1971C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5487030 | ||||||
| chr18:5487157
|
T | G | 1 | a0002c0003t0001g0090 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.183+1844A>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5487157 | ||||||
| chr18:5487405
|
AT | A | 9 | a0001c0002t0001g0215a0001c0002t0002g0047a0001c0002t0002g0069others(6): Show | 9 | HG01175.hp2 HG01243.hp1 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.183+1595delA | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5487405 | ||||||
| chr18:5487474
|
T | C | 24 | a0001c0001t0001g0045a0001c0001t0001g0052a0001c0001t0001g0101others(21): Show | 24 | HG01884.hp1 HG02074.hp1 HG02135.hp1 others(21): Show |
intron_variant | MODIFIER | c.183+1527A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5487474 | ||||||
| chr18:5487495
|
AT | A | 11 | a0001c0001t0001g0061a0001c0001t0001g0103a0001c0002t0001g0215others(8): Show | 11 | HG01175.hp2 HG01243.hp1 HG02109.hp2 others(8): Show |
intron_variant | MODIFIER | c.183+1505delA | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5487495 | ||||||
| chr18:5487790
|
G | GA | 21 | a0001c0001t0001g0057a0001c0001t0001g0133a0001c0001t0002g0011others(18): Show | 21 | HG01891.hp2 HG02055.hp2 HG02109.hp1 others(18): Show |
intron_variant | MODIFIER | c.183+1210dupT | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5487790 | ||||||
| chr18:5487820
|
T | C | 6 | a0001c0002t0002g0130a0001c0002t0002g0131a0008c0009t0002g0020others(3): Show | 6 | HG02055.hp2 HG02280.hp1 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.183+1181A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5487820 | ||||||
| chr18:5487906
|
A | G | 3 | a0001c0002t0002g0130a0001c0002t0002g0131a0009c0023t0005g0014 | 3 | HG02280.hp1 HG02486.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.183+1095T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5487906 | ||||||
| chr18:5488099
|
T | C | 9 | a0001c0002t0001g0215a0001c0002t0002g0047a0001c0002t0002g0069others(6): Show | 9 | HG01175.hp2 HG01243.hp1 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.183+902A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5488099 | ||||||
| chr18:5488239
|
C | T | 3 | a0001c0002t0002g0130a0001c0002t0002g0131a0009c0023t0005g0014 | 3 | HG02280.hp1 HG02486.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.183+762G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5488239 | ||||||
| chr18:5488253
|
G | A | 9 | a0001c0002t0001g0215a0001c0002t0002g0047a0001c0002t0002g0069others(6): Show | 9 | HG01175.hp2 HG01243.hp1 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.183+748C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5488253 | ||||||
| chr18:5488331
|
G | A | 1 | a0001c0001t0001g0052 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.183+670C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5488331 | ||||||
| chr18:5488379
|
G | A | 1 | a0001c0001t0002g0166 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.183+622C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5488379 | ||||||
| chr18:5488380
|
T | C | 1 | a0001c0001t0002g0166 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.183+621A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5488380 | ||||||
| chr18:5488413
|
G | A | 1 | a0001c0002t0001g0026 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.183+588C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5488413 | ||||||
| chr18:5488419
|
T | TG | 6 | a0001c0002t0002g0130a0001c0002t0002g0131a0008c0009t0002g0020others(3): Show | 6 | HG02055.hp2 HG02280.hp1 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.183+581dupC | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5488419 | ||||||
| chr18:5488558
|
T | TATA | 2 | a0002c0003t0003g0115a0002c0003t0003g0147 | 2 | HG01081.hp1 HG01516.hp1 |
intron_variant | MODIFIER | c.183+440_183+442dup others(3): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5488558 | ||||||
| chr18:5488579
|
G | GATAATAA others(2): Show |
10 | a0001c0001t0002g0015a0001c0001t0008g0193a0001c0002t0001g0026others(7): Show | 10 | HG01884.hp1 HG02809.hp2 HG02818.hp1 others(7): Show |
intron_variant | MODIFIER | c.183+421_183+422ins others(9): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5488579 | ||||||
| chr18:5488579
|
G | GATAATAA others(5): Show |
3 | a0001c0001t0002g0018a0008c0009t0002g0165a0009c0023t0005g0014 | 3 | HG02055.hp2 HG03195.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.183+421_183+422ins others(12): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5488579 | ||||||
| chr18:5488579
|
G | GATAATAA others(8): Show |
9 | a0001c0001t0001g0052a0001c0001t0001g0179a0001c0001t0001g0180others(6): Show | 9 | HG02135.hp1 HG02165.hp2 HG03041.hp1 others(6): Show |
intron_variant | MODIFIER | c.183+421_183+422ins others(15): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5488579 | ||||||
| chr18:5488579
|
G | GATAATAA others(11): Show |
7 | a0001c0001t0001g0101a0001c0001t0001g0136a0001c0001t0001g0195others(4): Show | 7 | HG02280.hp1 HG02486.hp1 HG03453.hp2 others(4): Show |
intron_variant | MODIFIER | c.183+421_183+422ins others(18): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5488579 | ||||||
| chr18:5488579
|
G | GATAATAA others(14): Show |
1 | a0001c0001t0001g0045 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.183+421_183+422ins others(21): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5488579 | ||||||
| chr18:5488579
|
G | GATAATAA others(20): Show |
1 | a0001c0001t0001g0194 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.183+421_183+422ins others(27): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5488579 | ||||||
| chr18:5488582
|
G | A | 50 | a0001c0001t0001g0045a0001c0001t0001g0052a0001c0001t0001g0057others(47): Show | 50 | HG01884.hp1 HG01891.hp2 HG02055.hp2 others(47): Show |
intron_variant | MODIFIER | c.183+419C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5488582 | ||||||
| chr18:5488582
|
G | GATA | 3 | a0001c0001t0001g0103a0001c0002t0002g0185a0001c0002t0002g0186 | 3 | HG02896.hp1 HG02897.hp1 NA18959.hp2 |
intron_variant | MODIFIER | c.183+416_183+418dup others(3): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5488582 | ||||||
| chr18:5488582
|
G | GATAATA | 9 | a0001c0002t0001g0215a0001c0002t0002g0047a0001c0002t0002g0069others(6): Show | 9 | HG01175.hp2 HG01243.hp1 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.183+413_183+418dup others(6): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5488582 | ||||||
| chr18:5488585
|
A | G | 6 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0116others(3): Show | 6 | HG01361.hp1 HG01433.hp2 HG01978.hp2 others(3): Show |
intron_variant | MODIFIER | c.183+416T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5488585 | ||||||
| chr18:5488945
|
C | T | 1 | a0001c0001t0013g0025 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.183+56G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | 5488945 | ||||||
| chr18:5489458
|
G | A | 2 | a0001c0005t0004g0169a0001c0005t0004g0175 | 2 | HG03098.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.-11-264C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5489458 | ||||||
| chr18:5489608
|
T | A | 9 | a0001c0002t0001g0215a0001c0002t0002g0047a0001c0002t0002g0069others(6): Show | 9 | HG01175.hp2 HG01243.hp1 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.-11-414A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5489608 | ||||||
| chr18:5489855
|
C | T | 3 | a0001c0002t0002g0053a0001c0002t0002g0185a0001c0002t0002g0186 | 3 | HG02896.hp1 HG02897.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.-11-661G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5489855 | ||||||
| chr18:5490083
|
T | C | 4 | a0001c0005t0004g0178a0008c0009t0002g0020a0008c0009t0002g0165others(1): Show | 4 | HG02055.hp2 HG03453.hp2 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.-11-889A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5490083 | ||||||
| chr18:5490153
|
C | T | 54 | a0001c0001t0001g0045a0001c0001t0001g0052a0001c0001t0001g0057others(51): Show | 54 | HG01175.hp2 HG01243.hp1 HG01884.hp1 others(51): Show |
intron_variant | MODIFIER | c.-11-959G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5490153 | ||||||
| chr18:5490178
|
C | T | 1 | a0001c0005t0004g0178 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.-11-984G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5490178 | ||||||
| chr18:5490315
|
G | A | 1 | a0001c0002t0002g0170 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.-11-1121C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5490315 | ||||||
| chr18:5490435
|
T | G | 33 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(30): Show | 33 | HG00735.hp2 HG01074.hp1 HG01081.hp2 others(30): Show |
intron_variant | MODIFIER | c.-11-1241A>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5490435 | ||||||
| chr18:5490576
|
A | C | 1 | a0001c0001t0001g0103 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.-11-1382T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5490576 | ||||||
| chr18:5490836
|
G | A | 1 | a0001c0001t0001g0052 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.-11-1642C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5490836 | ||||||
| chr18:5490943
|
C | A | 9 | a0001c0001t0002g0011a0001c0001t0002g0176a0001c0002t0002g0012others(6): Show | 9 | HG01891.hp2 HG02109.hp1 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.-11-1749G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5490943 | ||||||
| chr18:5490981
|
G | A | 32 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(29): Show | 32 | HG00735.hp2 HG01074.hp1 HG01081.hp2 others(29): Show |
intron_variant | MODIFIER | c.-11-1787C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5490981 | ||||||
| chr18:5491083
|
G | A | 15 | a0001c0001t0001g0030a0001c0001t0001g0077a0001c0001t0001g0083others(12): Show | 15 | HG01074.hp1 HG01106.hp2 HG01192.hp1 others(12): Show |
intron_variant | MODIFIER | c.-11-1889C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5491083 | ||||||
| chr18:5491394
|
A | G | 32 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(29): Show | 32 | HG00735.hp2 HG01074.hp1 HG01081.hp2 others(29): Show |
intron_variant | MODIFIER | c.-11-2200T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5491394 | ||||||
| chr18:5491437
|
C | G | 1 | a0001c0001t0001g0101 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.-11-2243G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5491437 | ||||||
| chr18:5491593
|
G | A | 32 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(29): Show | 32 | HG00735.hp2 HG01074.hp1 HG01081.hp2 others(29): Show |
intron_variant | MODIFIER | c.-11-2399C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5491593 | ||||||
| chr18:5491688
|
T | A | 5 | a0001c0001t0001g0021a0001c0001t0001g0024a0001c0001t0001g0096others(2): Show | 5 | HG01433.hp1 HG01952.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.-11-2494A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5491688 | ||||||
| chr18:5491904
|
C | A | 5 | a0001c0002t0002g0053a0001c0002t0002g0185a0001c0002t0002g0186others(2): Show | 5 | HG02572.hp2 HG02896.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.-11-2710G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5491904 | ||||||
| chr18:5492085
|
C | T | 9 | a0001c0002t0001g0215a0001c0002t0002g0047a0001c0002t0002g0069others(6): Show | 9 | HG01175.hp2 HG01243.hp1 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.-11-2891G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5492085 | ||||||
| chr18:5492282
|
TGCACTCC others(231): Show |
T | 59 | a0001c0001t0001g0045a0001c0001t0001g0052a0001c0001t0001g0057others(56): Show | 59 | HG01175.hp2 HG01243.hp1 HG01884.hp1 others(56): Show |
intron_variant | MODIFIER | c.-11-3326_-11-3089d others(2): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5492282 | ||||||
| chr18:5492575
|
C | T | 58 | a0001c0001t0001g0045a0001c0001t0001g0052a0001c0001t0001g0057others(55): Show | 58 | HG01175.hp2 HG01243.hp1 HG01884.hp1 others(55): Show |
intron_variant | MODIFIER | c.-11-3381G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5492575 | ||||||
| chr18:5492694
|
T | A | 6 | a0001c0001t0001g0019a0001c0001t0001g0151a0002c0003t0003g0115others(3): Show | 6 | HG00323.hp2 HG01081.hp1 HG01169.hp2 others(3): Show |
intron_variant | MODIFIER | c.-11-3500A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5492694 | ||||||
| chr18:5492726
|
T | C | 18 | a0001c0001t0001g0004a0001c0001t0001g0030a0001c0001t0001g0043others(15): Show | 18 | HG01074.hp1 HG01106.hp2 HG01192.hp1 others(15): Show |
intron_variant | MODIFIER | c.-11-3532A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5492726 | ||||||
| chr18:5492755
|
G | T | 1 | a0001c0005t0004g0178 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.-11-3561C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5492755 | ||||||
| chr18:5492994
|
C | T | 1 | a0001c0005t0004g0178 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.-11-3800G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5492994 | ||||||
| chr18:5493333
|
G | A | 58 | a0001c0001t0001g0045a0001c0001t0001g0052a0001c0001t0001g0057others(55): Show | 58 | HG01175.hp2 HG01243.hp1 HG01884.hp1 others(55): Show |
intron_variant | MODIFIER | c.-11-4139C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5493333 | ||||||
| chr18:5493339
|
G | A | 2 | a0001c0002t0002g0008a0001c0002t0002g0164 | 2 | HG02451.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.-11-4145C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5493339 | ||||||
| chr18:5493362
|
T | G | 32 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(29): Show | 32 | HG00735.hp2 HG01074.hp1 HG01081.hp2 others(29): Show |
intron_variant | MODIFIER | c.-11-4168A>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5493362 | ||||||
| chr18:5493557
|
A | T | 1 | a0004c0006t0002g0200 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.-11-4363T>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5493557 | ||||||
| chr18:5493574
|
G | GAA | 32 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(29): Show | 32 | HG00735.hp2 HG01074.hp1 HG01081.hp2 others(29): Show |
intron_variant | MODIFIER | c.-11-4382_-11-4381d others(4): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5493574 | ||||||
| chr18:5493683
|
C | T | 1 | a0001c0001t0001g0197 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.-11-4489G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5493683 | ||||||
| chr18:5493687
|
C | T | 1 | a0001c0001t0001g0119 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.-11-4493G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5493687 | ||||||
| chr18:5493832
|
G | A | 91 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(88): Show | 91 | HG00735.hp2 HG01074.hp1 HG01081.hp2 others(88): Show |
intron_variant | MODIFIER | c.-11-4638C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5493832 | ||||||
| chr18:5493977
|
C | T | 1 | a0001c0005t0004g0178 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.-11-4783G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5493977 | ||||||
| chr18:5494141
|
C | A | 32 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(29): Show | 32 | HG00735.hp2 HG01074.hp1 HG01081.hp2 others(29): Show |
intron_variant | MODIFIER | c.-11-4947G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5494141 | ||||||
| chr18:5494151
|
C | T | 45 | a0001c0001t0001g0052a0001c0001t0001g0057a0001c0001t0001g0133others(42): Show | 45 | HG01175.hp2 HG01243.hp1 HG01884.hp1 others(42): Show |
intron_variant | MODIFIER | c.-11-4957G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5494151 | ||||||
| chr18:5494163
|
C | A | 5 | a0001c0001t0001g0021a0001c0001t0001g0024a0001c0001t0001g0096others(2): Show | 5 | HG01433.hp1 HG01952.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.-11-4969G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5494163 | ||||||
| chr18:5494208
|
C | A | 27 | a0001c0001t0001g0038a0001c0001t0001g0042a0001c0001t0001g0103others(24): Show | 27 | HG00408.hp1 HG00558.hp2 HG00733.hp1 others(24): Show |
intron_variant | MODIFIER | c.-11-5014G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5494208 | ||||||
| chr18:5494218
|
G | A | 27 | a0001c0001t0001g0038a0001c0001t0001g0042a0001c0001t0001g0103others(24): Show | 27 | HG00408.hp1 HG00558.hp2 HG00733.hp1 others(24): Show |
intron_variant | MODIFIER | c.-11-5024C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5494218 | ||||||
| chr18:5494224
|
C | A | 32 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(29): Show | 32 | HG00735.hp2 HG01074.hp1 HG01081.hp2 others(29): Show |
intron_variant | MODIFIER | c.-11-5030G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5494224 | ||||||
| chr18:5494251
|
G | A | 1 | a0001c0002t0002g0016 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-11-5057C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5494251 | ||||||
| chr18:5494268
|
G | A | 2 | a0001c0001t0001g0104a0001c0001t0001g0205 | 2 | NA18747.hp2 NA18986.hp1 |
intron_variant | MODIFIER | c.-11-5074C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5494268 | ||||||
| chr18:5494357
|
T | C | 2 | a0001c0001t0002g0058a0001c0002t0002g0059 | 2 | HG02145.hp1 HG02630.hp2 |
intron_variant | MODIFIER | c.-11-5163A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5494357 | ||||||
| chr18:5494374
|
G | A | 1 | a0001c0001t0003g0122 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.-11-5180C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5494374 | ||||||
| chr18:5494396
|
G | A | 2 | a0001c0002t0012g0067a0002c0003t0002g0036 | 2 | HG02572.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.-11-5202C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5494396 | ||||||
| chr18:5494572
|
G | A | 1 | a0001c0001t0001g0218 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.-11-5378C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5494572 | ||||||
| chr18:5494581
|
G | A | 32 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(29): Show | 32 | HG00735.hp2 HG01074.hp1 HG01081.hp2 others(29): Show |
intron_variant | MODIFIER | c.-11-5387C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5494581 | ||||||
| chr18:5494638
|
C | A | 32 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(29): Show | 32 | HG00735.hp2 HG01074.hp1 HG01081.hp2 others(29): Show |
intron_variant | MODIFIER | c.-11-5444G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5494638 | ||||||
| chr18:5494667
|
C | A | 32 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(29): Show | 32 | HG00735.hp2 HG01074.hp1 HG01081.hp2 others(29): Show |
intron_variant | MODIFIER | c.-11-5473G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5494667 | ||||||
| chr18:5494668
|
A | C | 32 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(29): Show | 32 | HG00735.hp2 HG01074.hp1 HG01081.hp2 others(29): Show |
intron_variant | MODIFIER | c.-11-5474T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5494668 | ||||||
| chr18:5494672
|
A | C | 8 | a0001c0002t0001g0215a0001c0002t0002g0069a0001c0002t0002g0071others(5): Show | 8 | HG01175.hp2 HG01243.hp1 HG02109.hp2 others(5): Show |
intron_variant | MODIFIER | c.-11-5478T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5494672 | ||||||
| chr18:5494818
|
G | A | 1 | a0001c0005t0004g0178 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.-11-5624C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5494818 | ||||||
| chr18:5494860
|
C | T | 56 | a0001c0001t0001g0045a0001c0001t0001g0052a0001c0001t0001g0057others(53): Show | 56 | HG01175.hp2 HG01243.hp1 HG01884.hp1 others(53): Show |
intron_variant | MODIFIER | c.-11-5666G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5494860 | ||||||
| chr18:5494861
|
G | A | 32 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(29): Show | 32 | HG00735.hp2 HG01074.hp1 HG01081.hp2 others(29): Show |
intron_variant | MODIFIER | c.-11-5667C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5494861 | ||||||
| chr18:5494964
|
C | G | 5 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(2): Show | 5 | HG02145.hp1 HG02257.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.-11-5770G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5494964 | ||||||
| chr18:5495094
|
T | C | 1 | a0001c0001t0001g0201 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.-11-5900A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5495094 | ||||||
| chr18:5495177
|
A | G | 1 | a0001c0001t0001g0043 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.-11-5983T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5495177 | ||||||
| chr18:5495349
|
A | T | 9 | a0001c0002t0001g0215a0001c0002t0002g0047a0001c0002t0002g0069others(6): Show | 9 | HG01175.hp2 HG01243.hp1 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.-11-6155T>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5495349 | ||||||
| chr18:5495399
|
TA | T | 52 | a0001c0001t0001g0045a0001c0001t0001g0052a0001c0001t0001g0057others(49): Show | 52 | HG00673.hp1 HG01884.hp1 HG01891.hp2 others(49): Show |
intron_variant | MODIFIER | c.-11-6206delT | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5495399 | ||||||
| chr18:5495399
|
TAA | T | 15 | a0001c0001t0001g0133a0001c0002t0001g0215a0001c0002t0002g0047others(12): Show | 15 | HG01175.hp2 HG01243.hp1 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.-11-6207_-11-6206d others(4): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5495399 | ||||||
| chr18:5495401
|
A | G | 1 | a0001c0002t0002g0188 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.-11-6207T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5495401 | ||||||
| chr18:5495429
|
C | CAAT | 99 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(96): Show | 99 | HG00735.hp2 HG01074.hp1 HG01081.hp2 others(96): Show |
intron_variant | MODIFIER | c.-11-6236_-11-6235i others(5): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5495429 | ||||||
| chr18:5495455
|
T | C | 2 | a0001c0002t0002g0132a0001c0005t0004g0178 | 2 | HG03453.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.-11-6261A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5495455 | ||||||
| chr18:5495604
|
T | TA | 42 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(39): Show | 42 | HG00735.hp2 HG01074.hp1 HG01106.hp2 others(39): Show |
intron_variant | MODIFIER | c.-11-6411dupT | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5495604 | ||||||
| chr18:5495949
|
G | C | 102 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(99): Show | 102 | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(99): Show |
intron_variant | MODIFIER | c.-11-6755C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5495949 | ||||||
| chr18:5496002
|
C | T | 1 | a0001c0001t0001g0110 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-11-6808G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5496002 | ||||||
| chr18:5496219
|
T | C | 1 | a0001c0001t0001g0010 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.-11-7025A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5496219 | ||||||
| chr18:5496220
|
A | T | 1 | a0001c0001t0001g0010 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.-11-7026T>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5496220 | ||||||
| chr18:5496370
|
C | A | 34 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(31): Show | 34 | HG00735.hp2 HG01074.hp1 HG01081.hp2 others(31): Show |
intron_variant | MODIFIER | c.-11-7176G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5496370 | ||||||
| chr18:5496660
|
A | G | 100 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(97): Show | 100 | HG00735.hp2 HG01074.hp1 HG01081.hp2 others(97): Show |
intron_variant | MODIFIER | c.-11-7466T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5496660 | ||||||
| chr18:5496842
|
GGCCTAGG others(11): Show |
G | 18 | a0001c0002t0001g0215a0001c0002t0002g0008a0001c0002t0002g0047others(15): Show | 18 | HG01175.hp2 HG01243.hp1 HG02055.hp2 others(15): Show |
intron_variant | MODIFIER | c.-11-7666_-11-7649d others(20): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5496842 | ||||||
| chr18:5496999
|
G | C | 1 | a0001c0002t0002g0033 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.-11-7805C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5496999 | ||||||
| chr18:5497373
|
G | C | 1 | a0001c0002t0002g0132 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.-11-8179C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5497373 | ||||||
| chr18:5497455
|
A | T | 37 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(34): Show | 37 | HG00735.hp2 HG01074.hp1 HG01081.hp2 others(34): Show |
intron_variant | MODIFIER | c.-11-8261T>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5497455 | ||||||
| chr18:5497646
|
A | G | 1 | a0001c0001t0001g0052 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.-11-8452T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5497646 | ||||||
| chr18:5497895
|
T | C | 101 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(98): Show | 101 | HG00735.hp2 HG01074.hp1 HG01081.hp2 others(98): Show |
intron_variant | MODIFIER | c.-11-8701A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5497895 | ||||||
| chr18:5497975
|
C | T | 5 | a0001c0002t0002g0008a0001c0002t0002g0164a0001c0002t0012g0067others(2): Show | 5 | HG02055.hp2 HG02451.hp2 HG02572.hp2 others(2): Show |
intron_variant | MODIFIER | c.-11-8781G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5497975 | ||||||
| chr18:5498067
|
T | C | 1 | a0001c0001t0001g0218 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.-11-8873A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5498067 | ||||||
| chr18:5498531
|
T | C | 1 | a0001c0005t0004g0178 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.-11-9337A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5498531 | ||||||
| chr18:5498542
|
C | A | 1 | a0001c0005t0004g0178 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.-11-9348G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5498542 | ||||||
| chr18:5498581
|
C | T | 50 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(47): Show | 50 | HG00735.hp2 HG01074.hp1 HG01081.hp2 others(47): Show |
intron_variant | MODIFIER | c.-11-9387G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5498581 | ||||||
| chr18:5498594
|
C | CAAAAAA | 22 | a0001c0001t0001g0066a0001c0002t0001g0215a0001c0002t0002g0008others(19): Show | 22 | HG01169.hp1 HG01243.hp1 HG02055.hp2 others(19): Show |
intron_variant | MODIFIER | c.-11-9406_-11-9401d others(8): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5498594 | ||||||
| chr18:5498594
|
C | CAAAAAAA | 151 | a0001c0001t0001g0017a0001c0001t0001g0019a0001c0001t0001g0024others(148): Show | 151 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(148): Show |
intron_variant | MODIFIER | c.-11-9407_-11-9401d others(9): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5498594 | ||||||
| chr18:5498594
|
C | CAAAAAAA others(1): Show |
6 | a0001c0001t0001g0002a0001c0001t0001g0021a0001c0001t0001g0089others(3): Show | 6 | HG00558.hp1 HG01109.hp1 HG01109.hp2 others(3): Show |
intron_variant | MODIFIER | c.-11-9408_-11-9401d others(10): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5498594 | ||||||
| chr18:5498608
|
A | AAAAAAG | 26 | a0001c0001t0001g0010a0001c0001t0001g0030a0001c0001t0001g0043others(23): Show | 26 | HG00735.hp2 HG01074.hp1 HG01081.hp2 others(23): Show |
intron_variant | MODIFIER | c.-11-9415_-11-9414i others(8): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5498608 | ||||||
| chr18:5498612
|
G | A | 9 | a0001c0002t0001g0215a0001c0002t0002g0047a0001c0002t0002g0069others(6): Show | 9 | HG01175.hp2 HG01243.hp1 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.-11-9418C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5498612 | ||||||
| chr18:5498612
|
G | C | 8 | a0001c0002t0002g0053a0001c0002t0002g0130a0001c0002t0002g0131others(5): Show | 8 | HG01891.hp1 HG02280.hp1 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.-11-9418C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5498612 | ||||||
| chr18:5498619
|
G | T | 3 | a0001c0002t0002g0008a0001c0002t0002g0164a0008c0009t0002g0165 | 3 | HG02055.hp2 HG02451.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.-11-9425C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5498619 | ||||||
| chr18:5498803
|
T | C | 2 | a0008c0009t0002g0020a0015c0013t0001g0125 | 2 | HG03579.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.-11-9609A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5498803 | ||||||
| chr18:5499105
|
CG | C | 51 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(48): Show | 51 | HG00735.hp2 HG01074.hp1 HG01081.hp2 others(48): Show |
intron_variant | MODIFIER | c.-11-9912delC | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5499105 | ||||||
| chr18:5499134
|
T | G | 56 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(53): Show | 56 | HG00735.hp2 HG01074.hp1 HG01081.hp2 others(53): Show |
intron_variant | MODIFIER | c.-11-9940A>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5499134 | ||||||
| chr18:5499144
|
C | T | 8 | a0001c0002t0001g0215a0001c0002t0002g0069a0001c0002t0002g0071others(5): Show | 8 | HG01175.hp2 HG01243.hp1 HG02109.hp2 others(5): Show |
intron_variant | MODIFIER | c.-11-9950G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5499144 | ||||||
| chr18:5499325
|
A | G | 5 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(2): Show | 5 | HG02145.hp1 HG02257.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.-11-10131T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5499325 | ||||||
| chr18:5499391
|
T | C | 6 | a0001c0002t0002g0008a0001c0002t0002g0164a0001c0002t0002g0172others(3): Show | 6 | HG02055.hp2 HG02451.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.-11-10197A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5499391 | ||||||
| chr18:5499393
|
G | A | 1 | a0001c0001t0008g0063 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.-11-10199C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5499393 | ||||||
| chr18:5499444
|
TAATC | T | 17 | a0001c0002t0001g0215a0001c0002t0002g0047a0001c0002t0002g0053others(14): Show | 17 | HG01175.hp2 HG01243.hp1 HG01891.hp1 others(14): Show |
intron_variant | MODIFIER | c.-11-10254_-11-1025 others(8): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5499444 | ||||||
| chr18:5499486
|
G | A | 2 | a0001c0001t0001g0137a0001c0001t0001g0138 | 2 | HG01496.hp2 NA20752.hp1 |
intron_variant | MODIFIER | c.-11-10292C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5499486 | ||||||
| chr18:5499698
|
C | T | 17 | a0001c0002t0001g0215a0001c0002t0002g0047a0001c0002t0002g0053others(14): Show | 17 | HG01175.hp2 HG01243.hp1 HG01891.hp1 others(14): Show |
intron_variant | MODIFIER | c.-11-10504G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5499698 | ||||||
| chr18:5499780
|
A | C | 107 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(104): Show | 107 | HG00323.hp2 HG00673.hp1 HG00735.hp2 others(104): Show |
intron_variant | MODIFIER | c.-11-10586T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5499780 | ||||||
| chr18:5499829
|
G | GTA | 7 | a0001c0001t0001g0052a0001c0001t0001g0101a0001c0001t0001g0104others(4): Show | 7 | HG00323.hp2 HG03017.hp2 HG03041.hp1 others(4): Show |
intron_variant | MODIFIER | c.-11-10637_-11-1063 others(6): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5499829 | ||||||
| chr18:5499829
|
G | GTATATAT others(5): Show |
3 | a0001c0002t0002g0008a0001c0002t0002g0164a0008c0009t0002g0165 | 3 | HG02055.hp2 HG02451.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.-11-10647_-11-1063 others(16): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5499829 | ||||||
| chr18:5499829
|
G | GTATATAT others(7): Show |
1 | a0002c0003t0002g0036 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.-11-10649_-11-1063 others(18): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5499829 | ||||||
| chr18:5499829
|
G | GTATATAT others(11): Show |
1 | a0001c0002t0002g0172 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.-11-10653_-11-1063 others(22): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5499829 | ||||||
| chr18:5499829
|
G | GTATATAT others(13): Show |
1 | a0001c0002t0012g0067 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.-11-10636_-11-1063 others(24): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5499829 | ||||||
| chr18:5499829
|
G | GTGTATAT others(5): Show |
2 | a0001c0005t0004g0169a0001c0005t0004g0175 | 2 | HG03098.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.-11-10636_-11-1063 others(16): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5499829 | ||||||
| chr18:5499829
|
G | GTGTATAT others(7): Show |
1 | a0001c0005t0004g0178 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.-11-10636_-11-1063 others(18): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5499829 | ||||||
| chr18:5499829
|
G | GTGTATAT others(9): Show |
9 | a0001c0002t0001g0215a0001c0002t0002g0047a0001c0002t0002g0069others(6): Show | 9 | HG01175.hp2 HG01243.hp1 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.-11-10636_-11-1063 others(20): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5499829 | ||||||
| chr18:5499829
|
G | GTGTATAT others(31): Show |
1 | a0001c0002t0002g0053 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.-11-10636_-11-1063 others(42): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5499829 | ||||||
| chr18:5499829
|
G | GTGTATAT others(33): Show |
2 | a0001c0002t0002g0185a0001c0002t0002g0186 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.-11-10636_-11-1063 others(44): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5499829 | ||||||
| chr18:5499829
|
G | GTGTGTAT others(5): Show |
2 | a0001c0002t0002g0130a0001c0002t0002g0131 | 2 | HG02280.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.-11-10636_-11-1063 others(16): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5499829 | ||||||
| chr18:5499829
|
G | GTGTGTAT others(9): Show |
1 | a0001c0002t0002g0132 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.-11-10636_-11-1063 others(20): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5499829 | ||||||
| chr18:5499829
|
G | GTGTGTAT others(13): Show |
1 | a0001c0001t0001g0051 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.-11-10636_-11-1063 others(24): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5499829 | ||||||
| chr18:5499829
|
G | GTGTGTAT others(21): Show |
2 | a0001c0001t0001g0010a0002c0003t0003g0080 | 2 | NA18906.hp1 NA18998.hp2 |
intron_variant | MODIFIER | c.-11-10636_-11-1063 others(32): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5499829 | ||||||
| chr18:5499829
|
G | GTGTGTAT others(23): Show |
1 | a0001c0002t0002g0040 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.-11-10636_-11-1063 others(34): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5499829 | ||||||
| chr18:5499829
|
G | GTGTGTAT others(25): Show |
11 | a0001c0001t0001g0004a0001c0001t0001g0043a0001c0001t0001g0083others(8): Show | 11 | HG01074.hp1 HG01255.hp2 HG01257.hp2 others(8): Show |
intron_variant | MODIFIER | c.-11-10636_-11-1063 others(36): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5499829 | ||||||
| chr18:5499829
|
G | GTGTGTAT others(27): Show |
5 | a0001c0001t0001g0077a0001c0001t0001g0153a0001c0002t0002g0170others(2): Show | 5 | HG00735.hp2 HG01516.hp2 HG01891.hp1 others(2): Show |
intron_variant | MODIFIER | c.-11-10636_-11-1063 others(38): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5499829 | ||||||
| chr18:5499829
|
G | GTGTGTAT others(29): Show |
1 | a0002c0003t0003g0078 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.-11-10636_-11-1063 others(40): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5499829 | ||||||
| chr18:5499829
|
G | GTGTGTAT others(31): Show |
2 | a0001c0002t0001g0041a0001c0002t0002g0033 | 2 | HG02886.hp2 HG03704.hp2 |
intron_variant | MODIFIER | c.-11-10636_-11-1063 others(42): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5499829 | ||||||
| chr18:5499829
|
G | GTGTGTAT others(33): Show |
4 | a0001c0002t0002g0035a0001c0002t0002g0049a0001c0002t0010g0031others(1): Show | 4 | HG01081.hp2 HG01243.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.-11-10636_-11-1063 others(44): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5499829 | ||||||
| chr18:5499829
|
G | GTGTGTAT others(35): Show |
3 | a0001c0001t0001g0134a0001c0002t0002g0177a0007c0011t0002g0050 | 3 | HG01981.hp2 HG02886.hp1 NA18964.hp1 |
intron_variant | MODIFIER | c.-11-10636_-11-1063 others(46): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5499829 | ||||||
| chr18:5499829
|
G | GTGTGTGT others(25): Show |
1 | a0001c0001t0001g0030 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.-11-10636_-11-1063 others(36): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5499829 | ||||||
| chr18:5499829
|
G | GTGTGTGT others(27): Show |
1 | a0008c0009t0002g0020 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-11-10636_-11-1063 others(38): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5499829 | ||||||
| chr18:5499829
|
G | GTGTGTGT others(31): Show |
1 | a0015c0013t0001g0125 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-11-10636_-11-1063 others(42): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5499829 | ||||||
| chr18:5499833
|
A | G | 3 | a0001c0001t0001g0002a0001c0001t0001g0128a0001c0001t0001g0144 | 3 | HG01109.hp1 HG02280.hp2 HG03017.hp1 |
intron_variant | MODIFIER | c.-11-10639T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5499833 | ||||||
| chr18:5499877
|
C | T | 57 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(54): Show | 57 | HG00735.hp2 HG01074.hp1 HG01081.hp2 others(54): Show |
intron_variant | MODIFIER | c.-11-10683G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5499877 | ||||||
| chr18:5499971
|
T | C | 2 | a0001c0001t0001g0113a0001c0001t0001g0114 | 2 | HG01361.hp1 HG01433.hp2 |
intron_variant | MODIFIER | c.-11-10777A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5499971 | ||||||
| chr18:5499999
|
T | C | 1 | a0001c0001t0001g0134 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.-11-10805A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5499999 | ||||||
| chr18:5500022
|
T | C | 57 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(54): Show | 57 | HG00735.hp2 HG01074.hp1 HG01081.hp2 others(54): Show |
intron_variant | MODIFIER | c.-11-10828A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5500022 | ||||||
| chr18:5500042
|
T | C | 1 | a0005c0007t0001g0191 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.-11-10848A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5500042 | ||||||
| chr18:5500046
|
G | A | 6 | a0001c0002t0002g0008a0001c0002t0002g0164a0001c0002t0002g0172others(3): Show | 6 | HG02055.hp2 HG02451.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.-11-10852C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5500046 | ||||||
| chr18:5500092
|
G | T | 17 | a0001c0002t0001g0215a0001c0002t0002g0047a0001c0002t0002g0053others(14): Show | 17 | HG01175.hp2 HG01243.hp1 HG01891.hp1 others(14): Show |
intron_variant | MODIFIER | c.-11-10898C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5500092 | ||||||
| chr18:5500236
|
A | C | 57 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(54): Show | 57 | HG00735.hp2 HG01074.hp1 HG01081.hp2 others(54): Show |
intron_variant | MODIFIER | c.-11-11042T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5500236 | ||||||
| chr18:5500326
|
C | A | 57 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(54): Show | 57 | HG00735.hp2 HG01074.hp1 HG01081.hp2 others(54): Show |
intron_variant | MODIFIER | c.-11-11132G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5500326 | ||||||
| chr18:5500339
|
C | T | 34 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(31): Show | 34 | HG00735.hp2 HG01074.hp1 HG01081.hp2 others(31): Show |
intron_variant | MODIFIER | c.-11-11145G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5500339 | ||||||
| chr18:5500428
|
A | G | 2 | a0001c0002t0012g0067a0002c0003t0002g0036 | 2 | HG02572.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.-11-11234T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5500428 | ||||||
| chr18:5500833
|
C | T | 32 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(29): Show | 32 | HG00735.hp2 HG01074.hp1 HG01081.hp2 others(29): Show |
intron_variant | MODIFIER | c.-11-11639G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5500833 | ||||||
| chr18:5500911
|
C | G | 51 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(48): Show | 51 | HG00735.hp2 HG01074.hp1 HG01081.hp2 others(48): Show |
intron_variant | MODIFIER | c.-11-11717G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5500911 | ||||||
| chr18:5501037
|
G | A | 1 | a0001c0002t0002g0100 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.-11-11843C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5501037 | ||||||
| chr18:5501271
|
G | A | 53 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(50): Show | 53 | HG00735.hp2 HG01074.hp1 HG01081.hp2 others(50): Show |
intron_variant | MODIFIER | c.-11-12077C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5501271 | ||||||
| chr18:5501277
|
A | AAATG | 93 | a0001c0001t0001g0002a0001c0001t0001g0048a0001c0001t0001g0052others(90): Show | 93 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(90): Show |
intron_variant | MODIFIER | c.-11-12087_-11-1208 others(8): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5501277 | ||||||
| chr18:5501277
|
A | AAATGAAT others(1): Show |
9 | a0001c0001t0001g0019a0001c0001t0001g0159a0001c0001t0001g0160others(6): Show | 9 | HG01169.hp2 HG03831.hp1 NA18965.hp2 others(6): Show |
intron_variant | MODIFIER | c.-11-12091_-11-1208 others(12): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5501277 | ||||||
| chr18:5501277
|
AAATGAAT others(1): Show |
A | 52 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(49): Show | 52 | HG00735.hp2 HG01074.hp1 HG01081.hp2 others(49): Show |
intron_variant | MODIFIER | c.-11-12091_-11-1208 others(12): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5501277 | ||||||
| chr18:5501285
|
G | C | 1 | a0001c0002t0002g0075 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.-11-12091C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5501285 | ||||||
| chr18:5501327
|
C | T | 34 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(31): Show | 34 | HG00735.hp2 HG01074.hp1 HG01081.hp2 others(31): Show |
intron_variant | MODIFIER | c.-11-12133G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5501327 | ||||||
| chr18:5501491
|
C | T | 55 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(52): Show | 55 | HG00735.hp2 HG01074.hp1 HG01081.hp2 others(52): Show |
intron_variant | MODIFIER | c.-11-12297G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5501491 | ||||||
| chr18:5501885
|
T | A | 1 | a0001c0001t0003g0122 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.-11-12691A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5501885 | ||||||
| chr18:5501967
|
C | A | 9 | a0001c0001t0002g0094a0001c0001t0007g0065a0001c0002t0002g0087others(6): Show | 9 | HG01106.hp1 HG02055.hp1 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.-11-12773G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5501967 | ||||||
| chr18:5501999
|
G | C | 55 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(52): Show | 55 | HG00735.hp2 HG01074.hp1 HG01081.hp2 others(52): Show |
intron_variant | MODIFIER | c.-11-12805C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5501999 | ||||||
| chr18:5502030
|
CCCTCCTG | C | 41 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(38): Show | 41 | HG00733.hp1 HG00733.hp2 HG00735.hp2 others(38): Show |
intron_variant | MODIFIER | c.-11-12843_-11-1283 others(11): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5502030 | ||||||
| chr18:5502304
|
GA | G | 24 | a0001c0001t0001g0105a0001c0002t0001g0215a0001c0002t0002g0047others(21): Show | 24 | HG00408.hp1 HG01175.hp2 HG01243.hp1 others(21): Show |
intron_variant | MODIFIER | c.-11-13111delT | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5502304 | ||||||
| chr18:5502559
|
T | G | 17 | a0001c0002t0001g0215a0001c0002t0002g0047a0001c0002t0002g0053others(14): Show | 17 | HG01175.hp2 HG01243.hp1 HG01891.hp1 others(14): Show |
intron_variant | MODIFIER | c.-11-13365A>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5502559 | ||||||
| chr18:5502569
|
T | C | 53 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(50): Show | 53 | HG00735.hp2 HG01074.hp1 HG01081.hp2 others(50): Show |
intron_variant | MODIFIER | c.-11-13375A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5502569 | ||||||
| chr18:5502661
|
G | A | 1 | a0001c0001t0001g0136 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.-11-13467C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5502661 | ||||||
| chr18:5502755
|
G | C | 1 | a0001c0001t0001g0110 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-11-13561C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5502755 | ||||||
| chr18:5502795
|
A | T | 36 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(33): Show | 36 | HG00735.hp2 HG01074.hp1 HG01081.hp2 others(33): Show |
intron_variant | MODIFIER | c.-11-13601T>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5502795 | ||||||
| chr18:5502956
|
C | T | 1 | a0001c0001t0001g0180 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.-11-13762G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5502956 | ||||||
| chr18:5503099
|
C | T | 1 | a0001c0001t0001g0195 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.-11-13905G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5503099 | ||||||
| chr18:5503279
|
G | C | 2 | a0001c0001t0013g0025a0001c0002t0002g0221 | 2 | HG03130.hp1 HG04184.hp2 |
intron_variant | MODIFIER | c.-11-14085C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5503279 | ||||||
| chr18:5503378
|
T | C | 56 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(53): Show | 56 | HG00735.hp2 HG01074.hp1 HG01081.hp2 others(53): Show |
intron_variant | MODIFIER | c.-11-14184A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5503378 | ||||||
| chr18:5503749
|
G | C | 2 | a0008c0009t0002g0020a0015c0013t0001g0125 | 2 | HG03579.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.-11-14555C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5503749 | ||||||
| chr18:5504277
|
C | T | 9 | a0001c0002t0001g0215a0001c0002t0002g0047a0001c0002t0002g0069others(6): Show | 9 | HG01175.hp2 HG01243.hp1 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.-11-15083G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5504277 | ||||||
| chr18:5504347
|
C | G | 9 | a0001c0002t0001g0215a0001c0002t0002g0047a0001c0002t0002g0069others(6): Show | 9 | HG01175.hp2 HG01243.hp1 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.-11-15153G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5504347 | ||||||
| chr18:5504416
|
C | A | 2 | a0001c0001t0001g0154a0006c0008t0001g0192 | 2 | HG00323.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.-11-15222G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5504416 | ||||||
| chr18:5504998
|
G | A | 7 | a0001c0002t0001g0215a0001c0002t0002g0069a0001c0002t0002g0071others(4): Show | 7 | HG01175.hp2 HG01243.hp1 HG02109.hp2 others(4): Show |
intron_variant | MODIFIER | c.-11-15804C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5504998 | ||||||
| chr18:5505456
|
C | G | 23 | a0001c0001t0001g0010a0001c0001t0001g0052a0001c0001t0002g0011others(20): Show | 23 | HG01884.hp1 HG01891.hp2 HG02109.hp1 others(20): Show |
intron_variant | MODIFIER | c.-11-16262G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5505456 | ||||||
| chr18:5505516
|
CTCCACAC others(101): Show |
C | 2 | a0001c0001t0013g0025a0001c0002t0002g0221 | 2 | HG03130.hp1 HG04184.hp2 |
intron_variant | MODIFIER | c.-11-16430_-11-1632 others(4): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5505516 | ||||||
| chr18:5505560
|
T | G | 54 | a0001c0001t0001g0004a0001c0001t0001g0030a0001c0001t0001g0038others(51): Show | 54 | HG00408.hp2 HG01074.hp1 HG01081.hp2 others(51): Show |
intron_variant | MODIFIER | c.-11-16366A>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5505560 | ||||||
| chr18:5505624
|
G | GTCCACAC others(74): Show |
1 | a0001c0001t0001g0083 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.-11-16511_-11-1643 others(85): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5505624 | ||||||
| chr18:5505705
|
CTCCACAC others(20): Show |
C | 3 | a0001c0002t0001g0041a0001c0002t0002g0039a0001c0002t0002g0040 | 3 | HG02886.hp2 HG03139.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.-11-16538_-11-1651 others(31): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5505705 | ||||||
| chr18:5505732
|
A | ATCCACAC others(47): Show |
13 | a0001c0001t0001g0179a0001c0001t0001g0180a0001c0001t0001g0194others(10): Show | 13 | HG00558.hp1 HG02074.hp1 HG02135.hp1 others(10): Show |
intron_variant | MODIFIER | c.-11-16539_-11-1653 others(58): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5505732 | ||||||
| chr18:5505739
|
C | CCTTCACC others(20): Show |
1 | a0001c0001t0001g0197 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.-11-16546_-11-1654 others(31): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5505739 | ||||||
| chr18:5505873
|
ACCTTCAC others(7): Show |
A | 1 | a0001c0001t0001g0061 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.-11-16693_-11-1668 others(18): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5505873 | ||||||
| chr18:5506051
|
C | G | 2 | a0001c0002t0002g0132a0001c0002t0002g0170 | 2 | HG01891.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.-11-16857G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5506051 | ||||||
| chr18:5506104
|
C | T | 7 | a0001c0002t0001g0215a0001c0002t0002g0069a0001c0002t0002g0071others(4): Show | 7 | HG01175.hp2 HG01243.hp1 HG02109.hp2 others(4): Show |
intron_variant | MODIFIER | c.-11-16910G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5506104 | ||||||
| chr18:5506121
|
A | G | 1 | a0001c0001t0001g0052 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.-11-16927T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5506121 | ||||||
| chr18:5506152
|
C | G | 1 | a0001c0001t0001g0052 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.-11-16958G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5506152 | ||||||
| chr18:5506251
|
T | C | 1 | a0001c0002t0002g0064 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.-11-17057A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5506251 | ||||||
| chr18:5506330
|
C | T | 8 | a0001c0002t0001g0215a0001c0002t0002g0069a0001c0002t0002g0071others(5): Show | 8 | HG01175.hp2 HG01243.hp1 HG02109.hp2 others(5): Show |
intron_variant | MODIFIER | c.-11-17136G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5506330 | ||||||
| chr18:5506372
|
C | T | 2 | a0001c0002t0002g0130a0001c0002t0002g0131 | 2 | HG02280.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.-11-17178G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5506372 | ||||||
| chr18:5506575
|
T | C | 1 | a0008c0009t0002g0020 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-11-17381A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5506575 | ||||||
| chr18:5506649
|
G | A | 7 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(4): Show | 7 | HG02145.hp1 HG02257.hp1 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.-11-17455C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5506649 | ||||||
| chr18:5506727
|
A | G | 1 | a0001c0001t0001g0209 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.-11-17533T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5506727 | ||||||
| chr18:5507127
|
C | T | 2 | a0001c0002t0002g0132a0001c0002t0002g0170 | 2 | HG01891.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.-11-17933G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5507127 | ||||||
| chr18:5507465
|
CA | C | 62 | a0001c0001t0001g0004a0001c0001t0001g0030a0001c0001t0001g0043others(59): Show | 62 | HG00408.hp2 HG00558.hp1 HG01074.hp1 others(59): Show |
intron_variant | MODIFIER | c.-11-18272delT | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5507465 | ||||||
| chr18:5507539
|
T | C | 46 | a0001c0001t0001g0004a0001c0001t0001g0030a0001c0001t0001g0043others(43): Show | 46 | HG00408.hp2 HG01074.hp1 HG01081.hp2 others(43): Show |
intron_variant | MODIFIER | c.-11-18345A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5507539 | ||||||
| chr18:5507604
|
A | T | 64 | a0001c0001t0001g0004a0001c0001t0001g0030a0001c0001t0001g0043others(61): Show | 64 | HG00408.hp2 HG00558.hp1 HG01074.hp1 others(61): Show |
intron_variant | MODIFIER | c.-11-18410T>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5507604 | ||||||
| chr18:5507644
|
T | C | 7 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(4): Show | 7 | HG02145.hp1 HG02257.hp1 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.-11-18450A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5507644 | ||||||
| chr18:5507652
|
A | C | 14 | a0001c0001t0001g0179a0001c0001t0001g0180a0001c0001t0001g0194others(11): Show | 14 | HG00558.hp1 HG02074.hp1 HG02135.hp1 others(11): Show |
intron_variant | MODIFIER | c.-11-18458T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5507652 | ||||||
| chr18:5507840
|
G | C | 1 | a0001c0001t0001g0181 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.-11-18646C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5507840 | ||||||
| chr18:5508409
|
C | G | 9 | a0001c0001t0002g0015a0001c0001t0002g0018a0001c0001t0013g0025others(6): Show | 9 | HG01884.hp1 HG02809.hp2 HG02922.hp2 others(6): Show |
intron_variant | MODIFIER | c.-11-19215G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5508409 | ||||||
| chr18:5508412
|
T | A | 2 | a0001c0002t0012g0067a0002c0003t0002g0036 | 2 | HG02572.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.-11-19218A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5508412 | ||||||
| chr18:5508624
|
G | A | 1 | a0001c0001t0001g0154 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.-11-19430C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5508624 | ||||||
| chr18:5508649
|
C | G | 14 | a0001c0001t0001g0179a0001c0001t0001g0180a0001c0001t0001g0194others(11): Show | 14 | HG00558.hp1 HG02074.hp1 HG02135.hp1 others(11): Show |
intron_variant | MODIFIER | c.-11-19455G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5508649 | ||||||
| chr18:5508716
|
G | A | 1 | a0001c0001t0001g0208 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.-11-19522C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5508716 | ||||||
| chr18:5508766
|
C | CA | 29 | a0001c0001t0001g0021a0001c0001t0001g0024a0001c0001t0001g0038others(26): Show | 29 | HG00738.hp1 HG00738.hp2 HG01192.hp2 others(26): Show |
intron_variant | MODIFIER | c.-11-19573dupT | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5508766 | ||||||
| chr18:5508766
|
C | CAA | 6 | a0001c0001t0001g0017a0001c0001t0002g0055a0001c0002t0002g0059others(3): Show | 6 | HG01257.hp1 HG01891.hp1 HG02145.hp1 others(3): Show |
intron_variant | MODIFIER | c.-11-19574_-11-1957 others(6): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5508766 | ||||||
| chr18:5508766
|
CA | C | 37 | a0001c0001t0001g0010a0001c0001t0001g0052a0001c0001t0001g0103others(34): Show | 37 | HG00558.hp1 HG01884.hp1 HG01891.hp2 others(34): Show |
intron_variant | MODIFIER | c.-11-19573delT | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5508766 | ||||||
| chr18:5508766
|
CAAAAAAA others(3): Show |
C | 1 | a0001c0002t0002g0047 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.-11-19582_-11-1957 others(14): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5508766 | ||||||
| chr18:5508798
|
A | G | 2 | a0001c0001t0001g0179a0001c0001t0001g0180 | 2 | HG02135.hp1 HG02165.hp2 |
intron_variant | MODIFIER | c.-11-19604T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5508798 | ||||||
| chr18:5509607
|
C | T | 1 | a0001c0001t0001g0195 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.-11-20413G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5509607 | ||||||
| chr18:5509765
|
A | G | 1 | a0001c0002t0002g0221 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.-11-20571T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5509765 | ||||||
| chr18:5509827
|
C | T | 1 | a0001c0002t0002g0172 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.-11-20633G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5509827 | ||||||
| chr18:5509903
|
T | C | 18 | a0001c0001t0001g0179a0001c0001t0001g0180a0001c0001t0001g0194others(15): Show | 18 | HG00558.hp1 HG01891.hp1 HG02074.hp1 others(15): Show |
intron_variant | MODIFIER | c.-11-20709A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5509903 | ||||||
| chr18:5510105
|
T | A | 1 | a0015c0013t0001g0125 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-11-20911A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5510105 | ||||||
| chr18:5510437
|
A | G | 14 | a0001c0001t0001g0179a0001c0001t0001g0180a0001c0001t0001g0194others(11): Show | 14 | HG00558.hp1 HG02074.hp1 HG02135.hp1 others(11): Show |
intron_variant | MODIFIER | c.-11-21243T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5510437 | ||||||
| chr18:5510449
|
G | A | 18 | a0001c0001t0001g0179a0001c0001t0001g0180a0001c0001t0001g0194others(15): Show | 18 | HG00558.hp1 HG01891.hp1 HG02074.hp1 others(15): Show |
intron_variant | MODIFIER | c.-11-21255C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5510449 | ||||||
| chr18:5510486
|
T | C | 1 | a0001c0002t0002g0163 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.-11-21292A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5510486 | ||||||
| chr18:5510821
|
A | G | 58 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(55): Show | 58 | HG00408.hp2 HG01074.hp1 HG01081.hp2 others(55): Show |
intron_variant | MODIFIER | c.-11-21627T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5510821 | ||||||
| chr18:5510858
|
T | C | 2 | a0001c0001t0001g0113a0001c0001t0001g0114 | 2 | HG01361.hp1 HG01433.hp2 |
intron_variant | MODIFIER | c.-11-21664A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5510858 | ||||||
| chr18:5510898
|
T | C | 3 | a0001c0001t0001g0117a0001c0001t0001g0118a0001c0001t0001g0121 | 3 | NA18945.hp2 NA19007.hp2 NA19057.hp1 |
intron_variant | MODIFIER | c.-11-21704A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5510898 | ||||||
| chr18:5510990
|
G | A | 4 | a0001c0002t0002g0170a0001c0005t0004g0169a0001c0005t0004g0175others(1): Show | 4 | HG01106.hp1 HG01891.hp1 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.-11-21796C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5510990 | ||||||
| chr18:5511015
|
C | G | 17 | a0001c0001t0001g0179a0001c0001t0001g0180a0001c0001t0001g0194others(14): Show | 17 | HG00558.hp1 HG02074.hp1 HG02135.hp1 others(14): Show |
intron_variant | MODIFIER | c.-11-21821G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5511015 | ||||||
| chr18:5511391
|
G | GT | 37 | a0001c0001t0001g0010a0001c0001t0001g0061a0001c0001t0001g0097others(34): Show | 37 | HG01361.hp1 HG01361.hp2 HG01433.hp2 others(34): Show |
intron_variant | MODIFIER | c.-11-22198dupA | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5511391 | ||||||
| chr18:5511391
|
G | GTT | 11 | a0001c0001t0001g0140a0001c0001t0007g0065a0001c0002t0002g0028others(8): Show | 11 | HG01081.hp2 HG01243.hp2 HG02257.hp2 others(8): Show |
intron_variant | MODIFIER | c.-11-22199_-11-2219 others(6): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5511391 | ||||||
| chr18:5511391
|
GT | G | 53 | a0001c0001t0001g0004a0001c0001t0001g0019a0001c0001t0001g0030others(50): Show | 53 | HG00408.hp1 HG00408.hp2 HG00673.hp2 others(50): Show |
intron_variant | MODIFIER | c.-11-22198delA | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5511391 | ||||||
| chr18:5511391
|
GTTTT | G | 9 | a0001c0001t0001g0180a0001c0001t0001g0194a0001c0001t0001g0217others(6): Show | 9 | HG01106.hp1 HG01891.hp1 HG02074.hp1 others(6): Show |
intron_variant | MODIFIER | c.-11-22201_-11-2219 others(8): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5511391 | ||||||
| chr18:5511391
|
GTTTTT | G | 9 | a0001c0001t0001g0195a0001c0001t0001g0197a0001c0001t0001g0218others(6): Show | 9 | HG00558.hp1 HG03098.hp1 HG03225.hp1 others(6): Show |
intron_variant | MODIFIER | c.-11-22202_-11-2219 others(9): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5511391 | ||||||
| chr18:5511399
|
T | G | 1 | a0001c0001t0001g0019 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.-11-22205A>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5511399 | ||||||
| chr18:5511494
|
G | GT | 20 | a0001c0001t0001g0179a0001c0001t0001g0180a0001c0001t0001g0194others(17): Show | 20 | HG00558.hp1 HG01106.hp1 HG01891.hp1 others(17): Show |
intron_variant | MODIFIER | c.-11-22301dupA | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5511494 | ||||||
| chr18:5511654
|
T | C | 3 | a0001c0002t0002g0008a0001c0002t0002g0164a0008c0009t0002g0165 | 3 | HG02055.hp2 HG02451.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.-11-22460A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5511654 | ||||||
| chr18:5511994
|
T | G | 27 | a0001c0001t0001g0004a0001c0001t0001g0030a0001c0001t0001g0038others(24): Show | 27 | HG00408.hp2 HG01074.hp1 HG01106.hp2 others(24): Show |
intron_variant | MODIFIER | c.-11-22800A>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5511994 | ||||||
| chr18:5512255
|
A | C | 1 | a0001c0002t0001g0215 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-11-23061T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5512255 | ||||||
| chr18:5512279
|
A | G | 2 | a0001c0002t0002g0130a0001c0002t0002g0131 | 2 | HG02280.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.-11-23085T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5512279 | ||||||
| chr18:5512306
|
G | C | 14 | a0001c0001t0001g0179a0001c0001t0001g0180a0001c0001t0001g0194others(11): Show | 14 | HG00558.hp1 HG02074.hp1 HG02135.hp1 others(11): Show |
intron_variant | MODIFIER | c.-11-23112C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5512306 | ||||||
| chr18:5512415
|
G | A | 3 | a0001c0001t0001g0116a0001c0001t0001g0129a0001c0001t0006g0091 | 3 | HG01978.hp2 HG02145.hp2 HG02300.hp1 |
intron_variant | MODIFIER | c.-11-23221C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5512415 | ||||||
| chr18:5512587
|
G | C | 20 | a0001c0001t0001g0179a0001c0001t0001g0180a0001c0001t0001g0194others(17): Show | 20 | HG00558.hp1 HG01106.hp1 HG01891.hp1 others(17): Show |
intron_variant | MODIFIER | c.-11-23393C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5512587 | ||||||
| chr18:5513026
|
A | G | 3 | a0001c0002t0002g0008a0001c0002t0002g0164a0008c0009t0002g0165 | 3 | HG02055.hp2 HG02451.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.-11-23832T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5513026 | ||||||
| chr18:5513106
|
T | C | 1 | a0001c0005t0004g0178 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.-11-23912A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5513106 | ||||||
| chr18:5513161
|
C | T | 1 | a0004c0006t0011g0070 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.-11-23967G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5513161 | ||||||
| chr18:5513918
|
G | A | 70 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(67): Show | 70 | HG00408.hp2 HG00558.hp1 HG01074.hp1 others(67): Show |
intron_variant | MODIFIER | c.-11-24724C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5513918 | ||||||
| chr18:5513948
|
C | T | 220 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(217): Show | 220 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(217): Show |
intron_variant | MODIFIER | c.-11-24754G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5513948 | ||||||
| chr18:5514023
|
G | T | 1 | a0001c0002t0002g0222 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.-11-24829C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5514023 | ||||||
| chr18:5514283
|
T | C | 2 | a0001c0001t0001g0211a0001c0001t0008g0063 | 2 | HG00738.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.-11-25089A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5514283 | ||||||
| chr18:5514347
|
C | T | 2 | a0001c0002t0012g0067a0002c0003t0002g0036 | 2 | HG02572.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.-11-25153G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5514347 | ||||||
| chr18:5514475
|
A | T | 2 | a0001c0001t0001g0179a0001c0001t0001g0180 | 2 | HG02135.hp1 HG02165.hp2 |
intron_variant | MODIFIER | c.-11-25281T>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5514475 | ||||||
| chr18:5514526
|
TACAAG | T | 55 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(52): Show | 55 | HG00408.hp2 HG01074.hp1 HG01081.hp2 others(52): Show |
intron_variant | MODIFIER | c.-11-25337_-11-2533 others(9): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5514526 | ||||||
| chr18:5514654
|
C | T | 2 | a0001c0002t0012g0067a0002c0003t0002g0036 | 2 | HG02572.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.-11-25460G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5514654 | ||||||
| chr18:5514662
|
G | GA | 14 | a0001c0001t0001g0179a0001c0001t0001g0180a0001c0001t0001g0194others(11): Show | 14 | HG00558.hp1 HG02074.hp1 HG02135.hp1 others(11): Show |
intron_variant | MODIFIER | c.-11-25469dupT | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5514662 | ||||||
| chr18:5514731
|
T | C | 1 | a0002c0003t0003g0076 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.-11-25537A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5514731 | ||||||
| chr18:5514788
|
G | C | 4 | a0001c0002t0002g0170a0001c0005t0004g0169a0001c0005t0004g0175others(1): Show | 4 | HG01106.hp1 HG01891.hp1 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.-11-25594C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5514788 | ||||||
| chr18:5515020
|
A | G | 5 | a0001c0001t0001g0101a0001c0001t0001g0103a0001c0001t0001g0124others(2): Show | 5 | HG02015.hp1 NA18952.hp2 NA18959.hp2 others(2): Show |
intron_variant | MODIFIER | c.-11-25826T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5515020 | ||||||
| chr18:5515093
|
C | A | 1 | a0001c0001t0001g0052 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.-11-25899G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5515093 | ||||||
| chr18:5515351
|
T | C | 11 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(8): Show | 11 | HG01106.hp1 HG01891.hp1 HG02145.hp1 others(8): Show |
intron_variant | MODIFIER | c.-11-26157A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5515351 | ||||||
| chr18:5515463
|
A | C | 1 | a0001c0005t0004g0178 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.-11-26269T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5515463 | ||||||
| chr18:5515560
|
ATTC | A | 70 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(67): Show | 70 | HG00408.hp2 HG00558.hp1 HG01074.hp1 others(67): Show |
intron_variant | MODIFIER | c.-11-26369_-11-2636 others(7): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5515560 | ||||||
| chr18:5515591
|
A | C | 1 | a0001c0002t0002g0047 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.-11-26397T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5515591 | ||||||
| chr18:5515831
|
C | T | 2 | a0001c0001t0001g0052a0001c0001t0001g0151 | 2 | HG01496.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.-11-26637G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5515831 | ||||||
| chr18:5515979
|
T | C | 4 | a0001c0001t0001g0057a0001c0001t0002g0058a0001c0002t0002g0056others(1): Show | 4 | HG02145.hp1 HG02630.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.-11-26785A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5515979 | ||||||
| chr18:5516006
|
CG | C | 3 | a0001c0002t0002g0053a0001c0002t0002g0185a0001c0002t0002g0186 | 3 | HG02896.hp1 HG02897.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.-11-26813delC | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5516006 | ||||||
| chr18:5516107
|
C | T | 55 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(52): Show | 55 | HG00408.hp2 HG01074.hp1 HG01081.hp2 others(52): Show |
intron_variant | MODIFIER | c.-11-26913G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5516107 | ||||||
| chr18:5516143
|
C | T | 1 | a0001c0002t0002g0188 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.-11-26949G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5516143 | ||||||
| chr18:5516157
|
C | T | 1 | a0001c0001t0001g0158 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.-11-26963G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5516157 | ||||||
| chr18:5516167
|
C | T | 14 | a0001c0001t0001g0179a0001c0001t0001g0180a0001c0001t0001g0194others(11): Show | 14 | HG00558.hp1 HG02074.hp1 HG02135.hp1 others(11): Show |
intron_variant | MODIFIER | c.-11-26973G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5516167 | ||||||
| chr18:5516187
|
C | T | 1 | a0003c0004t0002g0098 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.-11-26993G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5516187 | ||||||
| chr18:5516541
|
C | T | 11 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(8): Show | 11 | HG01106.hp1 HG01891.hp1 HG02145.hp1 others(8): Show |
intron_variant | MODIFIER | c.-11-27347G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5516541 | ||||||
| chr18:5516602
|
G | A | 1 | a0001c0005t0004g0178 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.-12+27311C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5516602 | ||||||
| chr18:5516618
|
G | A | 11 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(8): Show | 11 | HG01106.hp1 HG01891.hp1 HG02145.hp1 others(8): Show |
intron_variant | MODIFIER | c.-12+27295C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5516618 | ||||||
| chr18:5517109
|
C | A | 1 | a0002c0014t0002g0196 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.-12+26804G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5517109 | ||||||
| chr18:5517158
|
A | G | 1 | a0001c0005t0004g0178 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.-12+26755T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5517158 | ||||||
| chr18:5517273
|
T | C | 14 | a0001c0001t0001g0179a0001c0001t0001g0180a0001c0001t0001g0194others(11): Show | 14 | HG00558.hp1 HG02074.hp1 HG02135.hp1 others(11): Show |
intron_variant | MODIFIER | c.-12+26640A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5517273 | ||||||
| chr18:5517292
|
C | T | 1 | a0001c0001t0001g0151 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.-12+26621G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5517292 | ||||||
| chr18:5517305
|
T | C | 82 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(79): Show | 82 | HG00408.hp2 HG00558.hp1 HG01074.hp1 others(79): Show |
intron_variant | MODIFIER | c.-12+26608A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5517305 | ||||||
| chr18:5517347
|
T | G | 1 | a0002c0003t0006g0112 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.-12+26566A>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5517347 | ||||||
| chr18:5517512
|
C | T | 9 | a0001c0001t0001g0052a0001c0001t0002g0015a0001c0001t0002g0018others(6): Show | 9 | HG01884.hp1 HG02809.hp2 HG02922.hp2 others(6): Show |
intron_variant | MODIFIER | c.-12+26401G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5517512 | ||||||
| chr18:5517561
|
G | A | 71 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(68): Show | 71 | HG00408.hp2 HG00558.hp1 HG01074.hp1 others(68): Show |
intron_variant | MODIFIER | c.-12+26352C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5517561 | ||||||
| chr18:5517640
|
G | A | 1 | a0001c0002t0002g0163 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.-12+26273C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5517640 | ||||||
| chr18:5517668
|
C | A | 1 | a0001c0020t0001g0198 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.-12+26245G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5517668 | ||||||
| chr18:5517733
|
T | C | 3 | a0001c0002t0002g0053a0001c0002t0002g0185a0001c0002t0002g0186 | 3 | HG02896.hp1 HG02897.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.-12+26180A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5517733 | ||||||
| chr18:5517860
|
C | T | 3 | a0001c0002t0002g0053a0001c0002t0002g0185a0001c0002t0002g0186 | 3 | HG02896.hp1 HG02897.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.-12+26053G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5517860 | ||||||
| chr18:5517924
|
T | G | 58 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(55): Show | 58 | HG00408.hp2 HG01074.hp1 HG01081.hp2 others(55): Show |
intron_variant | MODIFIER | c.-12+25989A>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5517924 | ||||||
| chr18:5517988
|
T | C | 7 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(4): Show | 7 | HG02145.hp1 HG02257.hp1 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.-12+25925A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5517988 | ||||||
| chr18:5518010
|
T | C | 4 | a0001c0002t0002g0170a0001c0005t0004g0169a0001c0005t0004g0175others(1): Show | 4 | HG01106.hp1 HG01891.hp1 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.-12+25903A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5518010 | ||||||
| chr18:5518041
|
G | T | 1 | a0001c0001t0001g0052 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.-12+25872C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5518041 | ||||||
| chr18:5518358
|
C | T | 1 | a0001c0001t0009g0001 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.-12+25555G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5518358 | ||||||
| chr18:5518459
|
G | T | 1 | a0001c0001t0001g0052 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.-12+25454C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5518459 | ||||||
| chr18:5518658
|
T | C | 1 | a0001c0002t0002g0163 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.-12+25255A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5518658 | ||||||
| chr18:5518875
|
C | T | 2 | a0001c0002t0012g0067a0002c0003t0002g0036 | 2 | HG02572.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.-12+25038G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5518875 | ||||||
| chr18:5518967
|
G | A | 1 | a0001c0002t0002g0163 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.-12+24946C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5518967 | ||||||
| chr18:5518969
|
C | T | 2 | a0001c0001t0001g0133a0001c0001t0001g0167 | 2 | HG01255.hp1 HG02738.hp1 |
intron_variant | MODIFIER | c.-12+24944G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5518969 | ||||||
| chr18:5519134
|
G | T | 2 | a0001c0002t0012g0067a0002c0003t0002g0036 | 2 | HG02572.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.-12+24779C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5519134 | ||||||
| chr18:5519215
|
C | T | 1 | a0001c0002t0002g0016 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-12+24698G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5519215 | ||||||
| chr18:5519229
|
A | G | 98 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(95): Show | 98 | HG00408.hp2 HG00558.hp1 HG01074.hp1 others(95): Show |
intron_variant | MODIFIER | c.-12+24684T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5519229 | ||||||
| chr18:5519309
|
T | C | 1 | a0002c0003t0006g0112 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.-12+24604A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5519309 | ||||||
| chr18:5519323
|
C | T | 82 | a0001c0001t0001g0002a0001c0001t0001g0060a0001c0001t0001g0066others(79): Show | 82 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(79): Show |
intron_variant | MODIFIER | c.-12+24590G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5519323 | ||||||
| chr18:5519374
|
A | T | 1 | a0001c0002t0002g0029 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.-12+24539T>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5519374 | ||||||
| chr18:5519394
|
G | A | 2 | a0001c0002t0012g0067a0002c0003t0002g0036 | 2 | HG02572.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.-12+24519C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5519394 | ||||||
| chr18:5519481
|
C | T | 8 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(5): Show | 8 | HG02145.hp1 HG02257.hp1 HG02630.hp2 others(5): Show |
intron_variant | MODIFIER | c.-12+24432G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5519481 | ||||||
| chr18:5519901
|
C | T | 1 | a0001c0002t0002g0132 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.-12+24012G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5519901 | ||||||
| chr18:5519939
|
C | T | 1 | a0001c0001t0013g0025 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.-12+23974G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5519939 | ||||||
| chr18:5520005
|
G | A | 1 | a0001c0002t0002g0029 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.-12+23908C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5520005 | ||||||
| chr18:5520118
|
T | A | 2 | a0001c0001t0001g0084a0001c0001t0001g0085 | 2 | HG01257.hp2 HG01258.hp2 |
intron_variant | MODIFIER | c.-12+23795A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5520118 | ||||||
| chr18:5520176
|
A | G | 1 | a0001c0001t0008g0193 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.-12+23737T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5520176 | ||||||
| chr18:5520215
|
T | C | 98 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(95): Show | 98 | HG00408.hp2 HG00558.hp1 HG01074.hp1 others(95): Show |
intron_variant | MODIFIER | c.-12+23698A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5520215 | ||||||
| chr18:5520265
|
C | T | 1 | a0001c0001t0001g0135 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.-12+23648G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5520265 | ||||||
| chr18:5520343
|
A | C | 17 | a0001c0001t0001g0179a0001c0001t0001g0180a0001c0001t0001g0194others(14): Show | 17 | HG00558.hp1 HG02074.hp1 HG02135.hp1 others(14): Show |
intron_variant | MODIFIER | c.-12+23570T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5520343 | ||||||
| chr18:5520401
|
C | G | 1 | a0001c0002t0002g0132 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.-12+23512G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5520401 | ||||||
| chr18:5520519
|
T | C | 1 | a0001c0001t0002g0176 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.-12+23394A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5520519 | ||||||
| chr18:5520557
|
TA | T | 63 | a0001c0001t0001g0004a0001c0001t0001g0019a0001c0001t0001g0030others(60): Show | 63 | HG00408.hp2 HG01074.hp1 HG01081.hp2 others(60): Show |
intron_variant | MODIFIER | c.-12+23355delT | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5520557 | ||||||
| chr18:5520753
|
A | G | 83 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(80): Show | 83 | HG00408.hp2 HG00558.hp1 HG01074.hp1 others(80): Show |
intron_variant | MODIFIER | c.-12+23160T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5520753 | ||||||
| chr18:5521133
|
A | G | 1 | a0001c0001t0001g0089 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.-12+22780T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5521133 | ||||||
| chr18:5521213
|
C | G | 49 | a0001c0001t0001g0002a0001c0001t0001g0060a0001c0001t0001g0066others(46): Show | 49 | HG00323.hp2 HG00673.hp1 HG00735.hp2 others(46): Show |
intron_variant | MODIFIER | c.-12+22700G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5521213 | ||||||
| chr18:5521351
|
C | T | 3 | a0001c0002t0002g0008a0001c0002t0002g0164a0008c0009t0002g0165 | 3 | HG02055.hp2 HG02451.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.-12+22562G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5521351 | ||||||
| chr18:5521863
|
G | A | 1 | a0001c0005t0004g0178 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.-12+22050C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5521863 | ||||||
| chr18:5521899
|
T | C | 1 | a0001c0001t0001g0209 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.-12+22014A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5521899 | ||||||
| chr18:5521935
|
A | G | 83 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(80): Show | 83 | HG00408.hp2 HG00558.hp1 HG01074.hp1 others(80): Show |
intron_variant | MODIFIER | c.-12+21978T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5521935 | ||||||
| chr18:5522048
|
G | A | 1 | a0001c0002t0002g0053 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.-12+21865C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5522048 | ||||||
| chr18:5522091
|
G | GTTAT | 14 | a0001c0001t0001g0179a0001c0001t0001g0180a0001c0001t0001g0194others(11): Show | 14 | HG00558.hp1 HG02074.hp1 HG02135.hp1 others(11): Show |
intron_variant | MODIFIER | c.-12+21818_-12+2182 others(8): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5522091 | ||||||
| chr18:5522118
|
T | A | 1 | a0001c0001t0001g0194 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.-12+21795A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5522118 | ||||||
| chr18:5522275
|
TTTTGTTT others(1): Show |
T | 16 | a0001c0001t0001g0179a0001c0001t0001g0180a0001c0001t0001g0194others(13): Show | 16 | HG00558.hp1 HG02074.hp1 HG02135.hp1 others(13): Show |
intron_variant | MODIFIER | c.-12+21630_-12+2163 others(12): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5522275 | ||||||
| chr18:5522313
|
G | A | 8 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(5): Show | 8 | HG02145.hp1 HG02257.hp1 HG02630.hp2 others(5): Show |
intron_variant | MODIFIER | c.-12+21600C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5522313 | ||||||
| chr18:5522375
|
C | T | 1 | a0001c0002t0002g0163 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.-12+21538G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5522375 | ||||||
| chr18:5522394
|
G | C | 8 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(5): Show | 8 | HG02145.hp1 HG02257.hp1 HG02630.hp2 others(5): Show |
intron_variant | MODIFIER | c.-12+21519C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5522394 | ||||||
| chr18:5522424
|
G | T | 83 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(80): Show | 83 | HG00408.hp2 HG00558.hp1 HG01074.hp1 others(80): Show |
intron_variant | MODIFIER | c.-12+21489C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5522424 | ||||||
| chr18:5522719
|
T | C | 1 | a0009c0023t0005g0014 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.-12+21194A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5522719 | ||||||
| chr18:5522738
|
T | C | 16 | a0001c0001t0001g0179a0001c0001t0001g0180a0001c0001t0001g0194others(13): Show | 16 | HG00558.hp1 HG02074.hp1 HG02135.hp1 others(13): Show |
intron_variant | MODIFIER | c.-12+21175A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5522738 | ||||||
| chr18:5522822
|
C | T | 1 | a0001c0002t0001g0026 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.-12+21091G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5522822 | ||||||
| chr18:5522962
|
G | T | 1 | a0001c0002t0002g0163 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.-12+20951C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5522962 | ||||||
| chr18:5522981
|
G | T | 2 | a0001c0002t0012g0067a0002c0003t0002g0036 | 2 | HG02572.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.-12+20932C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5522981 | ||||||
| chr18:5522990
|
G | C | 5 | a0001c0002t0001g0041a0001c0002t0002g0039a0001c0002t0002g0040others(2): Show | 5 | HG02280.hp1 HG02486.hp1 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.-12+20923C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5522990 | ||||||
| chr18:5522997
|
G | A | 1 | a0002c0003t0001g0102 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.-12+20916C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5522997 | ||||||
| chr18:5523223
|
C | T | 8 | a0001c0002t0002g0008a0001c0002t0002g0164a0001c0002t0002g0170others(5): Show | 8 | HG01106.hp1 HG01891.hp1 HG02055.hp2 others(5): Show |
intron_variant | MODIFIER | c.-12+20690G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5523223 | ||||||
| chr18:5523355
|
C | T | 1 | a0001c0001t0001g0219 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.-12+20558G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5523355 | ||||||
| chr18:5523370
|
A | T | 1 | a0001c0001t0001g0195 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.-12+20543T>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5523370 | ||||||
| chr18:5523432
|
T | A | 2 | a0001c0002t0012g0067a0002c0003t0002g0036 | 2 | HG02572.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.-12+20481A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5523432 | ||||||
| chr18:5523874
|
A | T | 8 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(5): Show | 8 | HG02145.hp1 HG02257.hp1 HG02630.hp2 others(5): Show |
intron_variant | MODIFIER | c.-12+20039T>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5523874 | ||||||
| chr18:5524026
|
G | A | 2 | a0001c0001t0001g0211a0001c0001t0008g0063 | 2 | HG00738.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.-12+19887C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5524026 | ||||||
| chr18:5524173
|
T | C | 6 | a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0085others(3): Show | 6 | HG01257.hp2 HG01258.hp2 HG01993.hp2 others(3): Show |
intron_variant | MODIFIER | c.-12+19740A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5524173 | ||||||
| chr18:5524178
|
T | G | 1 | a0001c0001t0001g0154 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.-12+19735A>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5524178 | ||||||
| chr18:5524260
|
C | T | 1 | a0001c0002t0002g0163 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.-12+19653G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5524260 | ||||||
| chr18:5524372
|
T | C | 14 | a0001c0001t0001g0179a0001c0001t0001g0180a0001c0001t0001g0194others(11): Show | 14 | HG00558.hp1 HG02074.hp1 HG02135.hp1 others(11): Show |
intron_variant | MODIFIER | c.-12+19541A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5524372 | ||||||
| chr18:5524617
|
AG | A | 82 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(79): Show | 82 | HG00408.hp2 HG00558.hp1 HG01074.hp1 others(79): Show |
intron_variant | MODIFIER | c.-12+19295delC | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5524617 | ||||||
| chr18:5524782
|
G | A | 54 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(51): Show | 54 | HG00408.hp2 HG01074.hp1 HG01081.hp2 others(51): Show |
intron_variant | MODIFIER | c.-12+19131C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5524782 | ||||||
| chr18:5525038
|
C | T | 64 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(61): Show | 64 | HG00408.hp2 HG01074.hp1 HG01081.hp2 others(61): Show |
intron_variant | MODIFIER | c.-12+18875G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5525038 | ||||||
| chr18:5525055
|
T | C | 1 | a0001c0001t0002g0018 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.-12+18858A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5525055 | ||||||
| chr18:5525098
|
C | T | 1 | a0001c0001t0001g0043 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.-12+18815G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5525098 | ||||||
| chr18:5525128
|
CA | C | 9 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(6): Show | 9 | HG02145.hp1 HG02257.hp1 HG02630.hp2 others(6): Show |
intron_variant | MODIFIER | c.-12+18784delT | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5525128 | ||||||
| chr18:5525302
|
A | G | 2 | a0001c0002t0012g0067a0002c0003t0002g0036 | 2 | HG02572.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.-12+18611T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5525302 | ||||||
| chr18:5525306
|
C | T | 1 | a0001c0002t0002g0163 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.-12+18607G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5525306 | ||||||
| chr18:5525410
|
T | C | 9 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(6): Show | 9 | HG02145.hp1 HG02257.hp1 HG02630.hp2 others(6): Show |
intron_variant | MODIFIER | c.-12+18503A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5525410 | ||||||
| chr18:5525483
|
C | T | 9 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(6): Show | 9 | HG02145.hp1 HG02257.hp1 HG02630.hp2 others(6): Show |
intron_variant | MODIFIER | c.-12+18430G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5525483 | ||||||
| chr18:5525649
|
A | T | 1 | a0001c0001t0001g0167 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.-12+18264T>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5525649 | ||||||
| chr18:5525696
|
T | C | 2 | a0001c0002t0002g0130a0001c0002t0002g0131 | 2 | HG02280.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.-12+18217A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5525696 | ||||||
| chr18:5525777
|
T | A | 1 | a0001c0001t0001g0121 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.-12+18136A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5525777 | ||||||
| chr18:5525876
|
T | C | 5 | a0001c0002t0002g0170a0001c0002t0002g0172a0001c0005t0004g0169others(2): Show | 5 | HG01106.hp1 HG01891.hp1 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.-12+18037A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5525876 | ||||||
| chr18:5525889
|
G | A | 2 | a0001c0001t0001g0137a0001c0001t0001g0138 | 2 | HG01496.hp2 NA20752.hp1 |
intron_variant | MODIFIER | c.-12+18024C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5525889 | ||||||
| chr18:5526008
|
A | C | 1 | a0009c0023t0005g0014 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.-12+17905T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5526008 | ||||||
| chr18:5526252
|
A | G | 1 | a0001c0005t0004g0178 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.-12+17661T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5526252 | ||||||
| chr18:5526320
|
G | T | 83 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(80): Show | 83 | HG00408.hp2 HG00558.hp1 HG01074.hp1 others(80): Show |
intron_variant | MODIFIER | c.-12+17593C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5526320 | ||||||
| chr18:5526351
|
C | T | 1 | a0001c0005t0004g0178 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.-12+17562G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5526351 | ||||||
| chr18:5526441
|
C | T | 60 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(57): Show | 60 | HG00408.hp2 HG01074.hp1 HG01081.hp2 others(57): Show |
intron_variant | MODIFIER | c.-12+17472G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5526441 | ||||||
| chr18:5526474
|
C | T | 1 | a0001c0005t0004g0178 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.-12+17439G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5526474 | ||||||
| chr18:5526500
|
A | C | 71 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(68): Show | 71 | HG00408.hp2 HG01074.hp1 HG01081.hp2 others(68): Show |
intron_variant | MODIFIER | c.-12+17413T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5526500 | ||||||
| chr18:5526542
|
T | C | 2 | a0001c0002t0002g0037a0004c0006t0002g0092 | 2 | HG02818.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.-12+17371A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5526542 | ||||||
| chr18:5526545
|
C | T | 16 | a0001c0001t0001g0179a0001c0001t0001g0180a0001c0001t0001g0194others(13): Show | 16 | HG00558.hp1 HG02074.hp1 HG02135.hp1 others(13): Show |
intron_variant | MODIFIER | c.-12+17368G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5526545 | ||||||
| chr18:5526695
|
T | C | 1 | a0001c0002t0002g0028 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.-12+17218A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5526695 | ||||||
| chr18:5526751
|
C | T | 14 | a0001c0001t0001g0179a0001c0001t0001g0180a0001c0001t0001g0194others(11): Show | 14 | HG00558.hp1 HG02074.hp1 HG02135.hp1 others(11): Show |
intron_variant | MODIFIER | c.-12+17162G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5526751 | ||||||
| chr18:5526830
|
G | A | 9 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(6): Show | 9 | HG02145.hp1 HG02257.hp1 HG02630.hp2 others(6): Show |
intron_variant | MODIFIER | c.-12+17083C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5526830 | ||||||
| chr18:5526943
|
G | C | 25 | a0001c0001t0001g0057a0001c0001t0001g0179a0001c0001t0001g0180others(22): Show | 25 | HG00558.hp1 HG02074.hp1 HG02135.hp1 others(22): Show |
intron_variant | MODIFIER | c.-12+16970C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5526943 | ||||||
| chr18:5527010
|
TA | T | 61 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(58): Show | 61 | HG00408.hp2 HG01074.hp1 HG01081.hp2 others(58): Show |
intron_variant | MODIFIER | c.-12+16902delT | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5527010 | ||||||
| chr18:5527010
|
TAA | T | 10 | a0001c0001t0001g0048a0001c0001t0001g0057a0001c0001t0002g0055others(7): Show | 10 | HG02145.hp1 HG02257.hp1 HG02630.hp2 others(7): Show |
intron_variant | MODIFIER | c.-12+16901_-12+1690 others(6): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5527010 | ||||||
| chr18:5527026
|
A | C | 5 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(2): Show | 5 | HG02145.hp1 HG02257.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.-12+16887T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5527026 | ||||||
| chr18:5527164
|
A | G | 5 | a0001c0002t0001g0041a0001c0002t0002g0039a0001c0002t0002g0040others(2): Show | 5 | HG02280.hp1 HG02486.hp1 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.-12+16749T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5527164 | ||||||
| chr18:5527205
|
C | G | 2 | a0001c0002t0012g0067a0002c0003t0002g0036 | 2 | HG02572.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.-12+16708G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5527205 | ||||||
| chr18:5527318
|
C | T | 10 | a0001c0001t0001g0010a0001c0001t0002g0011a0001c0001t0002g0176others(7): Show | 10 | HG01891.hp2 HG02109.hp1 HG02717.hp2 others(7): Show |
intron_variant | MODIFIER | c.-12+16595G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5527318 | ||||||
| chr18:5527438
|
A | AT | 9 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(6): Show | 9 | HG02145.hp1 HG02257.hp1 HG02630.hp2 others(6): Show |
intron_variant | MODIFIER | c.-12+16474dupA | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5527438 | ||||||
| chr18:5527488
|
G | A | 1 | a0001c0001t0001g0038 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.-12+16425C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5527488 | ||||||
| chr18:5527541
|
C | T | 1 | a0001c0001t0001g0207 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.-12+16372G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5527541 | ||||||
| chr18:5527598
|
C | T | 1 | a0001c0002t0002g0163 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.-12+16315G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5527598 | ||||||
| chr18:5527685
|
G | T | 1 | a0001c0002t0002g0163 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.-12+16228C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5527685 | ||||||
| chr18:5527790
|
A | G | 84 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(81): Show | 84 | HG00408.hp2 HG00558.hp1 HG01074.hp1 others(81): Show |
intron_variant | MODIFIER | c.-12+16123T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5527790 | ||||||
| chr18:5527865
|
G | A | 74 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(71): Show | 74 | HG00408.hp2 HG00558.hp1 HG01074.hp1 others(71): Show |
intron_variant | MODIFIER | c.-12+16048C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5527865 | ||||||
| chr18:5527921
|
A | C | 84 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(81): Show | 84 | HG00408.hp2 HG00558.hp1 HG01074.hp1 others(81): Show |
intron_variant | MODIFIER | c.-12+15992T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5527921 | ||||||
| chr18:5527923
|
G | A | 59 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(56): Show | 59 | HG00408.hp2 HG01074.hp1 HG01081.hp2 others(56): Show |
intron_variant | MODIFIER | c.-12+15990C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5527923 | ||||||
| chr18:5527982
|
C | G | 1 | a0001c0005t0004g0178 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.-12+15931G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5527982 | ||||||
| chr18:5527989
|
A | T | 59 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(56): Show | 59 | HG00408.hp2 HG01074.hp1 HG01081.hp2 others(56): Show |
intron_variant | MODIFIER | c.-12+15924T>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5527989 | ||||||
| chr18:5528009
|
AC | A | 59 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(56): Show | 59 | HG00408.hp2 HG01074.hp1 HG01081.hp2 others(56): Show |
intron_variant | MODIFIER | c.-12+15903delG | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5528009 | ||||||
| chr18:5528024
|
G | A | 93 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(90): Show | 93 | HG00408.hp2 HG00558.hp1 HG01074.hp1 others(90): Show |
intron_variant | MODIFIER | c.-12+15889C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5528024 | ||||||
| chr18:5528071
|
A | G | 5 | a0001c0002t0001g0041a0001c0002t0002g0039a0001c0002t0002g0040others(2): Show | 5 | HG02280.hp1 HG02486.hp1 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.-12+15842T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5528071 | ||||||
| chr18:5528102
|
C | G | 59 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(56): Show | 59 | HG00408.hp2 HG01074.hp1 HG01081.hp2 others(56): Show |
intron_variant | MODIFIER | c.-12+15811G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5528102 | ||||||
| chr18:5528146
|
G | A | 15 | a0001c0001t0001g0179a0001c0001t0001g0180a0001c0001t0001g0194others(12): Show | 15 | HG00558.hp1 HG02074.hp1 HG02135.hp1 others(12): Show |
intron_variant | MODIFIER | c.-12+15767C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5528146 | ||||||
| chr18:5528233
|
A | G | 57 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(54): Show | 57 | HG00408.hp2 HG01074.hp1 HG01081.hp2 others(54): Show |
intron_variant | MODIFIER | c.-12+15680T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5528233 | ||||||
| chr18:5528329
|
G | A | 2 | a0001c0001t0001g0167a0001c0001t0005g0168 | 2 | HG00733.hp2 HG01255.hp1 |
intron_variant | MODIFIER | c.-12+15584C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5528329 | ||||||
| chr18:5528345
|
T | A | 14 | a0001c0001t0001g0179a0001c0001t0001g0180a0001c0001t0001g0194others(11): Show | 14 | HG00558.hp1 HG02074.hp1 HG02135.hp1 others(11): Show |
intron_variant | MODIFIER | c.-12+15568A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5528345 | ||||||
| chr18:5528346
|
A | T | 56 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(53): Show | 56 | HG00408.hp2 HG01074.hp1 HG01081.hp2 others(53): Show |
intron_variant | MODIFIER | c.-12+15567T>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5528346 | ||||||
| chr18:5528751
|
T | C | 84 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(81): Show | 84 | HG00408.hp2 HG00558.hp1 HG01074.hp1 others(81): Show |
intron_variant | MODIFIER | c.-12+15162A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5528751 | ||||||
| chr18:5528790
|
G | A | 2 | a0001c0002t0012g0067a0002c0003t0002g0036 | 2 | HG02572.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.-12+15123C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5528790 | ||||||
| chr18:5528793
|
T | G | 59 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(56): Show | 59 | HG00408.hp2 HG01074.hp1 HG01081.hp2 others(56): Show |
intron_variant | MODIFIER | c.-12+15120A>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5528793 | ||||||
| chr18:5529008
|
G | T | 60 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(57): Show | 60 | HG00408.hp2 HG01074.hp1 HG01081.hp2 others(57): Show |
intron_variant | MODIFIER | c.-12+14905C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5529008 | ||||||
| chr18:5529175
|
T | C | 1 | a0001c0002t0002g0132 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.-12+14738A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5529175 | ||||||
| chr18:5529325
|
C | CAT | 4 | a0001c0001t0001g0133a0001c0001t0001g0137a0001c0001t0001g0138others(1): Show | 4 | HG01496.hp2 HG02738.hp1 NA20129.hp1 others(1): Show |
intron_variant | MODIFIER | c.-12+14586_-12+1458 others(6): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5529325 | ||||||
| chr18:5529325
|
CAT | C | 17 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(14): Show | 17 | HG02145.hp1 HG02257.hp1 HG02280.hp1 others(14): Show |
intron_variant | MODIFIER | c.-12+14586_-12+1458 others(6): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5529325 | ||||||
| chr18:5529325
|
CATAT | C | 57 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(54): Show | 57 | HG00408.hp2 HG01074.hp1 HG01081.hp2 others(54): Show |
intron_variant | MODIFIER | c.-12+14584_-12+1458 others(8): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5529325 | ||||||
| chr18:5529401
|
C | A | 60 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(57): Show | 60 | HG00408.hp2 HG01074.hp1 HG01081.hp2 others(57): Show |
intron_variant | MODIFIER | c.-12+14512G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5529401 | ||||||
| chr18:5529407
|
T | G | 90 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(87): Show | 90 | HG00408.hp2 HG00558.hp1 HG01074.hp1 others(87): Show |
intron_variant | MODIFIER | c.-12+14506A>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5529407 | ||||||
| chr18:5529595
|
G | C | 81 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(78): Show | 81 | HG00408.hp2 HG00558.hp1 HG01074.hp1 others(78): Show |
intron_variant | MODIFIER | c.-12+14318C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5529595 | ||||||
| chr18:5529676
|
C | T | 47 | a0001c0001t0001g0010a0001c0001t0001g0052a0001c0001t0001g0057others(44): Show | 47 | HG00558.hp1 HG01884.hp1 HG01891.hp2 others(44): Show |
intron_variant | MODIFIER | c.-12+14237G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5529676 | ||||||
| chr18:5529679
|
T | C | 2 | a0001c0001t0002g0015a0001c0001t0002g0018 | 2 | HG03195.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-12+14234A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5529679 | ||||||
| chr18:5529812
|
C | T | 1 | a0001c0001t0001g0160 | 1 | NA18978.hp2 | intron_variant | MODIFIER | c.-12+14101G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5529812 | ||||||
| chr18:5529831
|
A | G | 94 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0017others(91): Show | 94 | HG00408.hp2 HG00558.hp1 HG01074.hp1 others(91): Show |
intron_variant | MODIFIER | c.-12+14082T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5529831 | ||||||
| chr18:5529926
|
ATATG | A | 3 | a0001c0002t0001g0041a0001c0002t0002g0039a0001c0002t0002g0040 | 3 | HG02886.hp2 HG03139.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.-12+13983_-12+1398 others(8): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5529926 | ||||||
| chr18:5529928
|
A | ATG | 6 | a0001c0001t0001g0105a0001c0001t0001g0106a0001c0001t0001g0126others(3): Show | 6 | HG00408.hp1 HG00558.hp2 HG02074.hp2 others(3): Show |
intron_variant | MODIFIER | c.-12+13983_-12+1398 others(6): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5529928 | ||||||
| chr18:5529928
|
A | ATGTATGT others(3): Show |
5 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(2): Show | 5 | HG02145.hp1 HG02257.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.-12+13984_-12+1398 others(14): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5529928 | ||||||
| chr18:5529928
|
A | ATGTG | 26 | a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0085others(23): Show | 26 | HG01257.hp2 HG01258.hp2 HG01978.hp1 others(23): Show |
intron_variant | MODIFIER | c.-12+13981_-12+1398 others(8): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5529928 | ||||||
| chr18:5529928
|
A | ATGTGTG | 16 | a0001c0001t0001g0017a0001c0001t0001g0024a0001c0001t0001g0052others(13): Show | 16 | HG00558.hp1 HG01074.hp1 HG01192.hp1 others(13): Show |
intron_variant | MODIFIER | c.-12+13979_-12+1398 others(10): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5529928 | ||||||
| chr18:5529928
|
A | ATGTGTGT others(1): Show |
21 | a0001c0001t0001g0004a0001c0001t0001g0021a0001c0001t0001g0030others(18): Show | 21 | HG00408.hp2 HG01106.hp2 HG01255.hp2 others(18): Show |
intron_variant | MODIFIER | c.-12+13977_-12+1398 others(12): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5529928 | ||||||
| chr18:5529928
|
A | ATGTGTGT others(3): Show |
1 | a0001c0002t0002g0177 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.-12+13975_-12+1398 others(14): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5529928 | ||||||
| chr18:5529928
|
A | ATGTGTGT others(5): Show |
5 | a0001c0001t0001g0038a0001c0001t0001g0042a0001c0001t0001g0045others(2): Show | 5 | HG03579.hp2 NA18945.hp1 NA19002.hp2 others(2): Show |
intron_variant | MODIFIER | c.-12+13973_-12+1398 others(16): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5529928 | ||||||
| chr18:5529928
|
A | ATGTGTGT others(7): Show |
3 | a0001c0001t0001g0034a0001c0002t0002g0053a0001c0005t0004g0054 | 3 | HG03516.hp1 HG03579.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.-12+13971_-12+1398 others(18): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5529928 | ||||||
| chr18:5529928
|
A | ATGTGTGT others(13): Show |
3 | a0001c0002t0002g0008a0001c0002t0002g0164a0008c0009t0002g0165 | 3 | HG02055.hp2 HG02451.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.-12+13965_-12+1398 others(24): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5529928 | ||||||
| chr18:5529928
|
A | G | 1 | a0001c0001t0001g0019 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.-12+13985T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5529928 | ||||||
| chr18:5529928
|
ATG | A | 83 | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0060others(80): Show | 83 | HG00323.hp2 HG00673.hp1 HG00735.hp2 others(80): Show |
intron_variant | MODIFIER | c.-12+13983_-12+1398 others(6): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5529928 | ||||||
| chr18:5529928
|
ATGTGTG | A | 6 | a0001c0001t0001g0051a0001c0002t0002g0035a0001c0002t0002g0049others(3): Show | 6 | HG01081.hp2 HG01243.hp2 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.-12+13979_-12+1398 others(10): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5529928 | ||||||
| chr18:5529961
|
T | C | 1 | a0001c0002t0012g0067 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.-12+13952A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5529961 | ||||||
| chr18:5530163
|
T | C | 1 | a0001c0001t0001g0024 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.-12+13750A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5530163 | ||||||
| chr18:5530202
|
A | G | 8 | a0001c0001t0001g0096a0001c0001t0002g0086a0001c0001t0002g0094others(5): Show | 8 | HG02055.hp1 HG02559.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.-12+13711T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5530202 | ||||||
| chr18:5530296
|
C | T | 5 | a0001c0002t0002g0037a0001c0002t0002g0130a0001c0002t0002g0131others(2): Show | 5 | HG02280.hp1 HG02486.hp1 HG02572.hp2 others(2): Show |
intron_variant | MODIFIER | c.-12+13617G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5530296 | ||||||
| chr18:5530399
|
A | G | 1 | a0001c0018t0001g0044 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.-12+13514T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5530399 | ||||||
| chr18:5530445
|
C | T | 94 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0017others(91): Show | 94 | HG00408.hp2 HG00558.hp1 HG00735.hp2 others(91): Show |
intron_variant | MODIFIER | c.-12+13468G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5530445 | ||||||
| chr18:5530446
|
G | A | 1 | a0001c0001t0001g0159 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.-12+13467C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5530446 | ||||||
| chr18:5530486
|
C | T | 3 | a0001c0002t0002g0008a0001c0002t0002g0164a0008c0009t0002g0165 | 3 | HG02055.hp2 HG02451.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.-12+13427G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5530486 | ||||||
| chr18:5530551
|
T | C | 85 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0017others(82): Show | 85 | HG00408.hp2 HG00558.hp1 HG00735.hp2 others(82): Show |
intron_variant | MODIFIER | c.-12+13362A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5530551 | ||||||
| chr18:5530587
|
A | T | 9 | a0001c0002t0002g0037a0001c0002t0002g0053a0001c0002t0002g0130others(6): Show | 9 | HG02280.hp1 HG02486.hp1 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.-12+13326T>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5530587 | ||||||
| chr18:5530698
|
C | T | 1 | a0001c0002t0002g0132 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.-12+13215G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5530698 | ||||||
| chr18:5530797
|
C | T | 2 | a0001c0001t0001g0137a0001c0001t0001g0138 | 2 | HG01496.hp2 NA20752.hp1 |
intron_variant | MODIFIER | c.-12+13116G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5530797 | ||||||
| chr18:5530878
|
G | A | 1 | a0001c0001t0001g0220 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.-12+13035C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5530878 | ||||||
| chr18:5530969
|
C | T | 2 | a0001c0002t0002g0132a0001c0002t0002g0163 | 2 | HG03209.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.-12+12944G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5530969 | ||||||
| chr18:5531015
|
A | G | 85 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0017others(82): Show | 85 | HG00408.hp2 HG00558.hp1 HG01074.hp1 others(82): Show |
intron_variant | MODIFIER | c.-12+12898T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5531015 | ||||||
| chr18:5531029
|
A | C | 19 | a0001c0001t0001g0179a0001c0001t0001g0180a0001c0001t0001g0194others(16): Show | 19 | HG00558.hp1 HG02074.hp1 HG02135.hp1 others(16): Show |
intron_variant | MODIFIER | c.-12+12884T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5531029 | ||||||
| chr18:5531076
|
T | C | 1 | a0001c0001t0001g0103 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.-12+12837A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5531076 | ||||||
| chr18:5531237
|
T | C | 1 | a0001c0001t0001g0024 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.-12+12676A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5531237 | ||||||
| chr18:5531277
|
A | C | 2 | a0001c0001t0001g0030a0001c0001t0001g0048 | 2 | HG01106.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.-12+12636T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5531277 | ||||||
| chr18:5531296
|
C | A | 1 | a0001c0001t0001g0219 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.-12+12617G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5531296 | ||||||
| chr18:5531731
|
C | CA | 9 | a0001c0001t0001g0151a0001c0001t0001g0167a0001c0001t0001g0205others(6): Show | 9 | HG00733.hp2 HG01255.hp1 HG01496.hp1 others(6): Show |
intron_variant | MODIFIER | c.-12+12181dupT | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5531731 | ||||||
| chr18:5531731
|
C | CAAAA | 39 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0017others(36): Show | 39 | HG01169.hp2 HG01243.hp2 HG01255.hp2 others(36): Show |
intron_variant | MODIFIER | c.-12+12178_-12+1218 others(8): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5531731 | ||||||
| chr18:5531731
|
C | CAAAAA | 22 | a0001c0001t0001g0042a0001c0001t0001g0045a0001c0001t0001g0046others(19): Show | 22 | HG00408.hp2 HG01074.hp1 HG01081.hp2 others(19): Show |
intron_variant | MODIFIER | c.-12+12177_-12+1218 others(9): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5531731 | ||||||
| chr18:5531731
|
CA | C | 38 | a0001c0001t0001g0057a0001c0001t0001g0060a0001c0001t0001g0127others(35): Show | 38 | HG00558.hp1 HG00558.hp2 HG01106.hp1 others(35): Show |
intron_variant | MODIFIER | c.-12+12181delT | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5531731 | ||||||
| chr18:5531799
|
G | T | 2 | a0001c0002t0002g0037a0002c0003t0002g0036 | 2 | HG02572.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.-12+12114C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5531799 | ||||||
| chr18:5531815
|
A | C | 2 | a0001c0001t0001g0139a0001c0001t0009g0001 | 2 | HG00673.hp2 HG02015.hp2 |
intron_variant | MODIFIER | c.-12+12098T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5531815 | ||||||
| chr18:5532013
|
G | A | 3 | a0001c0001t0001g0137a0001c0001t0001g0138a0003c0004t0002g0098 | 3 | HG01496.hp2 NA20129.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.-12+11900C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5532013 | ||||||
| chr18:5532095
|
A | T | 64 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0017others(61): Show | 64 | HG00408.hp2 HG01074.hp1 HG01081.hp2 others(61): Show |
intron_variant | MODIFIER | c.-12+11818T>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5532095 | ||||||
| chr18:5532172
|
TA | T | 4 | a0001c0002t0002g0053a0001c0005t0004g0054a0008c0009t0002g0020others(1): Show | 4 | HG03516.hp1 HG03579.hp1 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.-12+11740delT | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5532172 | ||||||
| chr18:5532222
|
C | T | 1 | a0001c0005t0004g0178 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.-12+11691G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5532222 | ||||||
| chr18:5532463
|
G | T | 3 | a0001c0002t0001g0041a0001c0002t0002g0039a0001c0002t0002g0040 | 3 | HG02886.hp2 HG03139.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.-12+11450C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5532463 | ||||||
| chr18:5532477
|
A | G | 1 | a0001c0002t0002g0029 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.-12+11436T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5532477 | ||||||
| chr18:5532566
|
T | C | 85 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0017others(82): Show | 85 | HG00408.hp2 HG00558.hp1 HG01074.hp1 others(82): Show |
intron_variant | MODIFIER | c.-12+11347A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5532566 | ||||||
| chr18:5532568
|
C | T | 5 | a0001c0001t0001g0101a0001c0001t0001g0103a0001c0001t0001g0124others(2): Show | 5 | HG02015.hp1 NA18952.hp2 NA18959.hp2 others(2): Show |
intron_variant | MODIFIER | c.-12+11345G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5532568 | ||||||
| chr18:5532642
|
G | A | 9 | a0001c0002t0002g0047a0001c0002t0002g0064a0001c0002t0002g0069others(6): Show | 9 | HG01175.hp2 HG01243.hp1 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.-12+11271C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5532642 | ||||||
| chr18:5532919
|
G | A | 3 | a0001c0002t0001g0041a0001c0002t0002g0039a0001c0002t0002g0040 | 3 | HG02886.hp2 HG03139.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.-12+10994C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5532919 | ||||||
| chr18:5532933
|
G | A | 1 | a0001c0002t0002g0132 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.-12+10980C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5532933 | ||||||
| chr18:5533076
|
C | G | 1 | a0001c0002t0002g0100 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.-12+10837G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5533076 | ||||||
| chr18:5533090
|
CCT | C | 4 | a0001c0002t0002g0053a0001c0005t0004g0054a0008c0009t0002g0020others(1): Show | 4 | HG03516.hp1 HG03579.hp1 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.-12+10821_-12+1082 others(6): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5533090 | ||||||
| chr18:5533189
|
G | A | 74 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0017others(71): Show | 74 | HG00408.hp2 HG01074.hp1 HG01081.hp2 others(71): Show |
intron_variant | MODIFIER | c.-12+10724C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5533189 | ||||||
| chr18:5533192
|
G | A | 1 | a0001c0002t0002g0132 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.-12+10721C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5533192 | ||||||
| chr18:5533203
|
C | T | 1 | a0001c0002t0002g0132 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.-12+10710G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5533203 | ||||||
| chr18:5533362
|
T | C | 1 | a0001c0001t0001g0211 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.-12+10551A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5533362 | ||||||
| chr18:5533427
|
C | T | 1 | a0012c0019t0001g0099 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.-12+10486G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5533427 | ||||||
| chr18:5533446
|
T | C | 1 | a0001c0002t0002g0008 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.-12+10467A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5533446 | ||||||
| chr18:5533611
|
A | G | 2 | a0001c0002t0002g0164a0008c0009t0002g0165 | 2 | HG02055.hp2 HG02451.hp2 |
intron_variant | MODIFIER | c.-12+10302T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5533611 | ||||||
| chr18:5533690
|
G | A | 1 | a0001c0001t0003g0081 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.-12+10223C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5533690 | ||||||
| chr18:5533750
|
A | C | 93 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0017others(90): Show | 93 | HG00408.hp2 HG01074.hp1 HG01081.hp2 others(90): Show |
intron_variant | MODIFIER | c.-12+10163T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5533750 | ||||||
| chr18:5533786
|
A | C | 5 | a0001c0002t0002g0037a0001c0002t0002g0130a0001c0002t0002g0131others(2): Show | 5 | HG02280.hp1 HG02486.hp1 HG02572.hp2 others(2): Show |
intron_variant | MODIFIER | c.-12+10127T>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5533786 | ||||||
| chr18:5533796
|
A | G | 4 | a0001c0002t0002g0053a0001c0005t0004g0054a0008c0009t0002g0020others(1): Show | 4 | HG03516.hp1 HG03579.hp1 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.-12+10117T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5533796 | ||||||
| chr18:5533857
|
T | TACAAGTG | 83 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0017others(80): Show | 83 | HG00408.hp2 HG01074.hp1 HG01081.hp2 others(80): Show |
intron_variant | MODIFIER | c.-12+10055_-12+1005 others(11): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5533857 | ||||||
| chr18:5533863
|
C | T | 5 | a0001c0002t0002g0170a0001c0005t0004g0169a0001c0005t0004g0175others(2): Show | 5 | HG01106.hp1 HG01891.hp1 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.-12+10050G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5533863 | ||||||
| chr18:5533887
|
G | A | 2 | a0001c0001t0001g0061a0001c0002t0002g0222 | 2 | NA18747.hp1 NA19063.hp1 |
intron_variant | MODIFIER | c.-12+10026C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5533887 | ||||||
| chr18:5533961
|
G | A | 6 | a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0085others(3): Show | 6 | HG01257.hp2 HG01258.hp2 HG01993.hp2 others(3): Show |
intron_variant | MODIFIER | c.-12+9952C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5533961 | ||||||
| chr18:5533993
|
T | C | 64 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0017others(61): Show | 64 | HG00408.hp2 HG01074.hp1 HG01081.hp2 others(61): Show |
intron_variant | MODIFIER | c.-12+9920A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5533993 | ||||||
| chr18:5534041
|
T | C | 5 | a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0085others(2): Show | 5 | HG01257.hp2 HG01258.hp2 HG01993.hp2 others(2): Show |
intron_variant | MODIFIER | c.-12+9872A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5534041 | ||||||
| chr18:5534061
|
T | G | 83 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0017others(80): Show | 83 | HG00408.hp2 HG01074.hp1 HG01081.hp2 others(80): Show |
intron_variant | MODIFIER | c.-12+9852A>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5534061 | ||||||
| chr18:5534112
|
G | C | 5 | a0001c0002t0002g0037a0001c0002t0002g0130a0001c0002t0002g0131others(2): Show | 5 | HG02280.hp1 HG02486.hp1 HG02572.hp2 others(2): Show |
intron_variant | MODIFIER | c.-12+9801C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5534112 | ||||||
| chr18:5534344
|
G | A | 2 | a0001c0002t0002g0037a0002c0003t0002g0036 | 2 | HG02572.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.-12+9569C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5534344 | ||||||
| chr18:5534557
|
T | G | 69 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0017others(66): Show | 69 | HG00408.hp2 HG01074.hp1 HG01081.hp2 others(66): Show |
intron_variant | MODIFIER | c.-12+9356A>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5534557 | ||||||
| chr18:5534619
|
G | A | 2 | a0001c0002t0002g0164a0008c0009t0002g0165 | 2 | HG02055.hp2 HG02451.hp2 |
intron_variant | MODIFIER | c.-12+9294C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5534619 | ||||||
| chr18:5534657
|
C | T | 4 | a0001c0001t0001g0097a0001c0001t0001g0137a0001c0001t0001g0138others(1): Show | 4 | HG01361.hp2 HG01496.hp2 NA20129.hp1 others(1): Show |
intron_variant | MODIFIER | c.-12+9256G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5534657 | ||||||
| chr18:5534718
|
G | T | 1 | a0011c0021t0002g0171 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-12+9195C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5534718 | ||||||
| chr18:5534787
|
A | T | 2 | a0001c0002t0002g0156a0001c0002t0002g0157 | 2 | NA18965.hp2 NA18975.hp2 |
intron_variant | MODIFIER | c.-12+9126T>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5534787 | ||||||
| chr18:5534913
|
T | A | 1 | a0001c0001t0002g0123 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.-12+9000A>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5534913 | ||||||
| chr18:5535038
|
C | G | 1 | a0001c0001t0002g0015 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.-12+8875G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5535038 | ||||||
| chr18:5535103
|
G | A | 1 | a0001c0001t0001g0159 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.-12+8810C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5535103 | ||||||
| chr18:5535197
|
G | A | 2 | a0001c0002t0002g0164a0008c0009t0002g0165 | 2 | HG02055.hp2 HG02451.hp2 |
intron_variant | MODIFIER | c.-12+8716C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5535197 | ||||||
| chr18:5535268
|
A | G | 1 | a0001c0001t0001g0019 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.-12+8645T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5535268 | ||||||
| chr18:5535331
|
C | A | 1 | a0001c0002t0002g0132 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.-12+8582G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5535331 | ||||||
| chr18:5535331
|
C | G | 3 | a0001c0002t0001g0041a0001c0002t0002g0039a0001c0002t0002g0040 | 3 | HG02886.hp2 HG03139.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.-12+8582G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5535331 | ||||||
| chr18:5535474
|
C | T | 8 | a0001c0001t0001g0096a0001c0001t0002g0086a0001c0001t0002g0094others(5): Show | 8 | HG02055.hp1 HG02559.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.-12+8439G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5535474 | ||||||
| chr18:5535637
|
C | T | 3 | a0001c0002t0002g0037a0001c0002t0012g0067a0002c0003t0002g0036 | 3 | HG02572.hp2 HG03209.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.-12+8276G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5535637 | ||||||
| chr18:5535742
|
A | G | 1 | a0001c0001t0001g0133 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-12+8171T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5535742 | ||||||
| chr18:5535858
|
G | A | 65 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0017others(62): Show | 65 | HG00408.hp2 HG01074.hp1 HG01081.hp2 others(62): Show |
intron_variant | MODIFIER | c.-12+8055C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5535858 | ||||||
| chr18:5535879
|
G | A | 5 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(2): Show | 5 | HG02145.hp1 HG02257.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.-12+8034C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5535879 | ||||||
| chr18:5536157
|
T | C | 1 | a0001c0002t0002g0164 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.-12+7756A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5536157 | ||||||
| chr18:5536301
|
G | C | 1 | a0001c0001t0001g0124 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.-12+7612C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5536301 | ||||||
| chr18:5536400
|
T | C | 2 | a0001c0002t0002g0164a0008c0009t0002g0165 | 2 | HG02055.hp2 HG02451.hp2 |
intron_variant | MODIFIER | c.-12+7513A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5536400 | ||||||
| chr18:5536502
|
TA | T | 58 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0017others(55): Show | 58 | HG00408.hp2 HG01074.hp1 HG01081.hp2 others(55): Show |
intron_variant | MODIFIER | c.-12+7410delT | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5536502 | ||||||
| chr18:5536527
|
T | C | 68 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0017others(65): Show | 68 | HG00408.hp2 HG01074.hp1 HG01081.hp2 others(65): Show |
intron_variant | MODIFIER | c.-12+7386A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5536527 | ||||||
| chr18:5536585
|
T | C | 1 | a0001c0002t0001g0215 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-12+7328A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5536585 | ||||||
| chr18:5536649
|
CA | C | 25 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(22): Show | 25 | HG01106.hp1 HG01891.hp1 HG02145.hp1 others(22): Show |
intron_variant | MODIFIER | c.-12+7263delT | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5536649 | ||||||
| chr18:5536727
|
GCTTGAAC others(12): Show |
G | 1 | a0001c0001t0001g0061 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.-12+7167_-12+7185d others(21): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5536727 | ||||||
| chr18:5536785
|
C | T | 5 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(2): Show | 5 | HG02145.hp1 HG02257.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.-12+7128G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5536785 | ||||||
| chr18:5536847
|
G | A | 57 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0017others(54): Show | 57 | HG00408.hp2 HG01074.hp1 HG01081.hp2 others(54): Show |
intron_variant | MODIFIER | c.-12+7066C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5536847 | ||||||
| chr18:5536994
|
G | A | 1 | a0001c0002t0002g0163 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.-12+6919C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5536994 | ||||||
| chr18:5537070
|
C | T | 1 | a0008c0009t0002g0165 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.-12+6843G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5537070 | ||||||
| chr18:5537189
|
T | C | 1 | a0001c0001t0001g0034 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.-12+6724A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5537189 | ||||||
| chr18:5537396
|
T | C | 1 | a0001c0002t0001g0041 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.-12+6517A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5537396 | ||||||
| chr18:5537712
|
C | A | 1 | a0001c0002t0002g0172 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.-12+6201G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5537712 | ||||||
| chr18:5537874
|
G | C | 2 | a0001c0002t0002g0164a0008c0009t0002g0165 | 2 | HG02055.hp2 HG02451.hp2 |
intron_variant | MODIFIER | c.-12+6039C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5537874 | ||||||
| chr18:5538189
|
T | G | 1 | a0005c0007t0001g0191 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.-12+5724A>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5538189 | ||||||
| chr18:5538248
|
A | G | 53 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(50): Show | 53 | HG00408.hp2 HG01074.hp1 HG01081.hp2 others(50): Show |
intron_variant | MODIFIER | c.-12+5665T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5538248 | ||||||
| chr18:5538259
|
C | T | 1 | a0001c0001t0001g0021 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.-12+5654G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5538259 | ||||||
| chr18:5538276
|
TCAC | T | 3 | a0001c0002t0001g0041a0001c0002t0002g0039a0001c0002t0002g0040 | 3 | HG02886.hp2 HG03139.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.-12+5634_-12+5636d others(5): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5538276 | ||||||
| chr18:5538614
|
T | C | 4 | a0001c0001t0001g0052a0001c0002t0002g0053a0001c0005t0004g0054others(1): Show | 4 | HG03041.hp1 HG03516.hp1 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.-12+5299A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5538614 | ||||||
| chr18:5538627
|
G | A | 1 | a0001c0001t0001g0154 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.-12+5286C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5538627 | ||||||
| chr18:5538645
|
C | A | 13 | a0001c0001t0001g0017a0001c0001t0001g0019a0001c0001t0001g0021others(10): Show | 13 | HG01169.hp2 HG01257.hp1 HG01433.hp1 others(10): Show |
intron_variant | MODIFIER | c.-12+5268G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5538645 | ||||||
| chr18:5538646
|
C | A | 13 | a0001c0001t0001g0017a0001c0001t0001g0019a0001c0001t0001g0021others(10): Show | 13 | HG01169.hp2 HG01257.hp1 HG01433.hp1 others(10): Show |
intron_variant | MODIFIER | c.-12+5267G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5538646 | ||||||
| chr18:5538655
|
T | C | 1 | a0008c0009t0002g0020 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-12+5258A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5538655 | ||||||
| chr18:5538782
|
C | T | 13 | a0001c0001t0001g0017a0001c0001t0001g0019a0001c0001t0001g0021others(10): Show | 13 | HG01169.hp2 HG01257.hp1 HG01433.hp1 others(10): Show |
intron_variant | MODIFIER | c.-12+5131G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5538782 | ||||||
| chr18:5538994
|
GAT | G | 4 | a0001c0001t0001g0207a0001c0001t0001g0208a0001c0001t0001g0209others(1): Show | 4 | HG03017.hp2 HG03834.hp1 NA18983.hp2 others(1): Show |
intron_variant | MODIFIER | c.-12+4917_-12+4918d others(4): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5538994 | ||||||
| chr18:5538995
|
A | AT | 19 | a0001c0001t0001g0002a0001c0001t0001g0089a0001c0001t0001g0129others(16): Show | 19 | HG00558.hp1 HG00738.hp2 HG01109.hp1 others(16): Show |
intron_variant | MODIFIER | c.-12+4917dupA | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5538995 | ||||||
| chr18:5538995
|
AT | A | 23 | a0001c0001t0001g0017a0001c0001t0001g0019a0001c0001t0001g0021others(20): Show | 23 | HG01169.hp2 HG01257.hp1 HG01433.hp1 others(20): Show |
intron_variant | MODIFIER | c.-12+4917delA | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5538995 | ||||||
| chr18:5538995
|
ATT | A | 13 | a0001c0001t0001g0030a0001c0001t0001g0048a0001c0001t0001g0127others(10): Show | 13 | HG00558.hp2 HG01106.hp1 HG01106.hp2 others(10): Show |
intron_variant | MODIFIER | c.-12+4916_-12+4917d others(4): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5538995 | ||||||
| chr18:5538995
|
ATTT | A | 41 | a0001c0001t0001g0004a0001c0001t0001g0034a0001c0001t0001g0038others(38): Show | 41 | HG00408.hp2 HG01074.hp1 HG01192.hp1 others(38): Show |
intron_variant | MODIFIER | c.-12+4915_-12+4917d others(5): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5538995 | ||||||
| chr18:5538995
|
ATTTT | A | 7 | a0001c0001t0001g0010a0001c0002t0002g0035a0001c0002t0002g0053others(4): Show | 7 | HG01081.hp2 HG02280.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.-12+4914_-12+4917d others(6): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5538995 | ||||||
| chr18:5539089
|
A | G | 1 | a0001c0001t0001g0197 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.-12+4824T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5539089 | ||||||
| chr18:5539245
|
GCTTT | G | 6 | a0001c0001t0002g0015a0001c0001t0002g0018a0001c0001t0013g0025others(3): Show | 6 | HG01884.hp1 HG02809.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.-12+4664_-12+4667d others(6): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5539245 | ||||||
| chr18:5539245
|
GCTTTCT | G | 7 | a0001c0001t0001g0017a0001c0001t0001g0019a0001c0001t0001g0021others(4): Show | 7 | HG01169.hp2 HG01257.hp1 HG01433.hp1 others(4): Show |
intron_variant | MODIFIER | c.-12+4662_-12+4667d others(8): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5539245 | ||||||
| chr18:5539248
|
TTC | T | 140 | a0001c0001t0001g0002a0001c0001t0001g0057a0001c0001t0001g0060others(137): Show | 140 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(137): Show |
intron_variant | MODIFIER | c.-12+4663_-12+4664d others(4): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5539248 | ||||||
| chr18:5539248
|
TTCTC | T | 56 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(53): Show | 56 | HG00408.hp2 HG01074.hp1 HG01081.hp2 others(53): Show |
intron_variant | MODIFIER | c.-12+4661_-12+4664d others(6): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5539248 | ||||||
| chr18:5539375
|
G | C | 1 | a0001c0001t0001g0197 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.-12+4538C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5539375 | ||||||
| chr18:5539375
|
G | T | 1 | a0001c0001t0002g0086 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.-12+4538C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5539375 | ||||||
| chr18:5539460
|
T | C | 1 | a0001c0002t0002g0216 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.-12+4453A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5539460 | ||||||
| chr18:5539503
|
G | C | 76 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0017others(73): Show | 76 | HG00408.hp2 HG01074.hp1 HG01081.hp2 others(73): Show |
intron_variant | MODIFIER | c.-12+4410C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5539503 | ||||||
| chr18:5539739
|
C | T | 66 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0017others(63): Show | 66 | HG00408.hp2 HG01074.hp1 HG01081.hp2 others(63): Show |
intron_variant | MODIFIER | c.-12+4174G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5539739 | ||||||
| chr18:5540119
|
C | A | 87 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0017others(84): Show | 87 | HG00408.hp2 HG01074.hp1 HG01081.hp2 others(84): Show |
intron_variant | MODIFIER | c.-12+3794G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5540119 | ||||||
| chr18:5540295
|
T | C | 1 | a0001c0001t0001g0129 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.-12+3618A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5540295 | ||||||
| chr18:5540338
|
A | G | 1 | a0008c0009t0002g0165 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.-12+3575T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5540338 | ||||||
| chr18:5540758
|
G | A | 2 | a0001c0001t0001g0010a0002c0003t0002g0009 | 2 | HG01891.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.-12+3155C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5540758 | ||||||
| chr18:5540824
|
C | T | 48 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0030others(45): Show | 48 | HG00408.hp2 HG01074.hp1 HG01081.hp2 others(45): Show |
intron_variant | MODIFIER | c.-12+3089G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5540824 | ||||||
| chr18:5540835
|
A | G | 35 | a0001c0001t0001g0004a0001c0001t0001g0030a0001c0001t0001g0034others(32): Show | 35 | HG00408.hp2 HG01074.hp1 HG01081.hp2 others(32): Show |
intron_variant | MODIFIER | c.-12+3078T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5540835 | ||||||
| chr18:5540847
|
G | T | 35 | a0001c0001t0001g0004a0001c0001t0001g0030a0001c0001t0001g0034others(32): Show | 35 | HG00408.hp2 HG01074.hp1 HG01081.hp2 others(32): Show |
intron_variant | MODIFIER | c.-12+3066C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5540847 | ||||||
| chr18:5540867
|
G | A | 15 | a0001c0001t0001g0179a0001c0001t0001g0180a0001c0001t0001g0194others(12): Show | 15 | HG00558.hp1 HG02074.hp1 HG02135.hp1 others(12): Show |
intron_variant | MODIFIER | c.-12+3046C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5540867 | ||||||
| chr18:5540874
|
G | C | 1 | a0001c0001t0002g0018 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.-12+3039C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5540874 | ||||||
| chr18:5540956
|
G | C | 58 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0017others(55): Show | 58 | HG00408.hp2 HG01081.hp2 HG01106.hp2 others(55): Show |
intron_variant | MODIFIER | c.-12+2957C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5540956 | ||||||
| chr18:5541031
|
G | C | 41 | a0001c0001t0001g0004a0001c0001t0001g0017a0001c0001t0001g0019others(38): Show | 41 | HG00408.hp2 HG01081.hp2 HG01106.hp2 others(38): Show |
intron_variant | MODIFIER | c.-12+2882C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5541031 | ||||||
| chr18:5541059
|
TG | T | 19 | a0001c0001t0001g0004a0001c0001t0001g0030a0001c0001t0001g0034others(16): Show | 19 | HG00408.hp2 HG01081.hp2 HG01106.hp2 others(16): Show |
intron_variant | MODIFIER | c.-12+2853delC | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5541059 | ||||||
| chr18:5541061
|
G | A | 5 | a0001c0001t0001g0052a0001c0002t0002g0037a0001c0002t0002g0053others(2): Show | 5 | HG02572.hp2 HG03041.hp1 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.-12+2852C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5541061 | ||||||
| chr18:5541063
|
C | T | 2 | a0001c0001t0001g0042a0001c0001t0001g0061 | 2 | NA19002.hp2 NA19063.hp1 |
intron_variant | MODIFIER | c.-12+2850G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5541063 | ||||||
| chr18:5541071
|
C | T | 1 | a0001c0001t0001g0061 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.-12+2842G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5541071 | ||||||
| chr18:5541079
|
C | T | 1 | a0001c0001t0001g0061 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.-12+2834G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5541079 | ||||||
| chr18:5541084
|
C | CA | 13 | a0001c0001t0001g0019a0001c0001t0001g0060a0001c0001t0001g0180others(10): Show | 13 | HG01106.hp1 HG01169.hp2 HG01891.hp1 others(10): Show |
intron_variant | MODIFIER | c.-12+2828dupT | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5541084 | ||||||
| chr18:5541084
|
C | CAA | 108 | a0001c0001t0001g0002a0001c0001t0001g0057a0001c0001t0001g0066others(105): Show | 108 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(105): Show |
intron_variant | MODIFIER | c.-12+2827_-12+2828d others(4): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5541084 | ||||||
| chr18:5541167
|
T | G | 9 | a0001c0001t0001g0158a0001c0001t0001g0159a0001c0001t0001g0160others(6): Show | 9 | HG03831.hp1 NA18952.hp1 NA18965.hp2 others(6): Show |
intron_variant | MODIFIER | c.-12+2746A>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5541167 | ||||||
| chr18:5541252
|
C | CA | 85 | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0038others(82): Show | 85 | HG00408.hp1 HG00558.hp2 HG00733.hp1 others(82): Show |
intron_variant | MODIFIER | c.-12+2660dupT | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5541252 | ||||||
| chr18:5541252
|
C | CAA | 43 | a0001c0001t0001g0004a0001c0001t0001g0042a0001c0001t0001g0043others(40): Show | 43 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(40): Show |
intron_variant | MODIFIER | c.-12+2659_-12+2660d others(4): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5541252 | ||||||
| chr18:5541252
|
C | CAAA | 7 | a0001c0001t0001g0048a0001c0001t0001g0160a0001c0001t0001g0162others(4): Show | 7 | HG01981.hp2 NA18906.hp2 NA18964.hp2 others(4): Show |
intron_variant | MODIFIER | c.-12+2658_-12+2660d others(5): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5541252 | ||||||
| chr18:5541252
|
C | CAAAAAA | 5 | a0001c0001t0001g0051a0001c0001t0001g0052a0001c0002t0002g0049others(2): Show | 5 | HG01243.hp2 HG02622.hp2 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.-12+2655_-12+2660d others(8): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5541252 | ||||||
| chr18:5541252
|
C | CAAAAAAA | 7 | a0001c0001t0001g0021a0001c0001t0001g0024a0001c0001t0013g0025others(4): Show | 7 | HG01433.hp1 HG01952.hp2 HG02976.hp1 others(4): Show |
intron_variant | MODIFIER | c.-12+2654_-12+2660d others(9): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5541252 | ||||||
| chr18:5541252
|
C | CAAAAAAA others(3): Show |
1 | a0001c0002t0001g0026 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.-12+2651_-12+2660d others(12): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5541252 | ||||||
| chr18:5541252
|
C | CAAAAAAA others(4): Show |
2 | a0001c0002t0002g0027a0001c0002t0002g0028 | 2 | HG01884.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.-12+2650_-12+2660d others(13): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5541252 | ||||||
| chr18:5541252
|
CA | C | 20 | a0001c0001t0001g0182a0001c0001t0001g0194a0001c0001t0001g0195others(17): Show | 20 | HG00558.hp1 HG01106.hp1 HG01891.hp1 others(17): Show |
intron_variant | MODIFIER | c.-12+2660delT | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5541252 | ||||||
| chr18:5541252
|
CAAAAAAA others(3): Show |
C | 1 | a0001c0001t0001g0060 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.-12+2651_-12+2660d others(12): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5541252 | ||||||
| chr18:5541372
|
T | C | 1 | a0003c0010t0007g0187 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.-12+2541A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5541372 | ||||||
| chr18:5541481
|
AATATACT | A | 11 | a0001c0001t0001g0010a0001c0001t0002g0011a0001c0002t0002g0006others(8): Show | 11 | HG01891.hp2 HG02109.hp1 HG02717.hp2 others(8): Show |
intron_variant | MODIFIER | c.-12+2425_-12+2431d others(9): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5541481 | ||||||
| chr18:5541691
|
G | C | 59 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0017others(56): Show | 59 | HG00408.hp2 HG01081.hp2 HG01106.hp2 others(56): Show |
intron_variant | MODIFIER | c.-12+2222C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5541691 | ||||||
| chr18:5542231
|
T | C | 5 | a0001c0001t0001g0057a0001c0001t0002g0055a0001c0001t0002g0058others(2): Show | 5 | HG02145.hp1 HG02257.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.-12+1682A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5542231 | ||||||
| chr18:5542298
|
A | G | 73 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0017others(70): Show | 73 | HG00408.hp2 HG01081.hp2 HG01106.hp1 others(70): Show |
intron_variant | MODIFIER | c.-12+1615T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5542298 | ||||||
| chr18:5542313
|
T | C | 1 | a0009c0023t0005g0014 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.-12+1600A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5542313 | ||||||
| chr18:5542344
|
A | AATTTC | 14 | a0001c0001t0001g0017a0001c0001t0001g0019a0001c0001t0001g0021others(11): Show | 14 | HG01169.hp2 HG01257.hp1 HG01433.hp1 others(11): Show |
intron_variant | MODIFIER | c.-12+1564_-12+1568d others(7): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5542344 | ||||||
| chr18:5542536
|
G | A | 2 | a0001c0002t0002g0164a0008c0009t0002g0165 | 2 | HG02055.hp2 HG02451.hp2 |
intron_variant | MODIFIER | c.-12+1377C>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5542536 | ||||||
| chr18:5542594
|
C | A | 1 | a0001c0002t0002g0222 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.-12+1319G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5542594 | ||||||
| chr18:5542665
|
T | C | 1 | a0001c0001t0002g0166 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.-12+1248A>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5542665 | ||||||
| chr18:5542719
|
GA | G | 10 | a0001c0001t0001g0010a0001c0001t0002g0011a0001c0002t0002g0006others(7): Show | 10 | HG01891.hp2 HG02109.hp1 HG02717.hp2 others(7): Show |
intron_variant | MODIFIER | c.-12+1193delT | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5542719 | ||||||
| chr18:5542856
|
G | C | 1 | a0001c0001t0002g0166 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.-12+1057C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5542856 | ||||||
| chr18:5543151
|
G | C | 2 | a0001c0001t0001g0167a0001c0001t0005g0168 | 2 | HG00733.hp2 HG01255.hp1 |
intron_variant | MODIFIER | c.-12+762C>G | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5543151 | ||||||
| chr18:5543185
|
C | A | 8 | a0001c0001t0002g0176a0001c0002t0002g0170a0001c0002t0002g0172others(5): Show | 8 | HG01106.hp1 HG01891.hp1 HG02451.hp1 others(5): Show |
intron_variant | MODIFIER | c.-12+728G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5543185 | ||||||
| chr18:5543279
|
C | T | 10 | a0001c0001t0001g0010a0001c0001t0002g0011a0001c0002t0002g0006others(7): Show | 10 | HG01891.hp2 HG02109.hp1 HG02717.hp2 others(7): Show |
intron_variant | MODIFIER | c.-12+634G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5543279 | ||||||
| chr18:5543280
|
C | A | 1 | a0001c0002t0002g0177 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.-12+633G>T | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5543280 | ||||||
| chr18:5543347
|
C | T | 2 | a0001c0001t0001g0179a0001c0001t0001g0180 | 2 | HG02135.hp1 HG02165.hp2 |
intron_variant | MODIFIER | c.-12+566G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5543347 | ||||||
| chr18:5543412
|
C | T | 1 | a0001c0001t0001g0004 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.-12+501G>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5543412 | ||||||
| chr18:5543533
|
G | T | 1 | a0001c0005t0004g0178 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.-12+380C>A | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5543533 | ||||||
| chr18:5543653
|
A | G | 177 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(174): Show | 177 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(174): Show |
intron_variant | MODIFIER | c.-12+260T>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5543653 | ||||||
| chr18:5543717
|
C | G | 1 | a0014c0015t0001g0003 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.-12+196G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5543717 | ||||||
| chr18:5543774
|
C | G | 1 | a0001c0001t0001g0002 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.-12+139G>C | EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | 5543774 |