| geneid | 65065 |
|---|---|
| ensemblid | ENSG00000144426.19 |
| hgncid | 20681 |
| symbol | NBEAL1 |
| name | neurobeachin like 1 |
| refseq_nuc | NM_001378026.1 |
| refseq_prot | NP_001364955.1 |
| ensembl_nuc | ENST00000683969.1 |
| ensembl_prot | ENSP00000508055.1 |
| mane_status | MANE Select |
| chr | chr2 |
| start | 203014875 |
| end | 203225194 |
| strand | + |
| ver | v1.2 |
| region | chr2:203014875-203225194 |
| region5000 | chr2:203009875-203230194 |
| regionname0 | NBEAL1_chr2_203014875_203225194 |
| regionname5000 | NBEAL1_chr2_203009875_203230194 |
| ahapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 2723 | 207 | 38 | 43 | 98 | 7 | 21 | 70 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0002 | 1/0 | 2723 | 33 | 16 | 4 | 10 | 0 | 2 | 8 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0003 | 0/0 | 2723 | 21 | 17 | 4 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0004 | 0/0 | 2723 | 7 | 0 | 0 | 7 | 0 | 0 | 5 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0005 | 0/1 | 2723 | 5 | 0 | 2 | 0 | 0 | 2 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0006 | 0/0 | 2723 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0007 | 0/0 | 2723 | 2 | 0 | 0 | 0 | 2 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0008 | 0/0 | 107 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0009 | 0/0 | 2723 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0010 | 0/0 | 2723 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0011 | 0/0 | 2723 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0012 | 0/0 | 2723 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0013 | 0/0 | 2723 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0014 | 0/0 | 2723 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0015 | 0/0 | 2723 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0016 | 0/0 | 2723 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0017 | 0/0 | 2723 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0018 | 0/0 | 2723 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0019 | 0/0 | 2723 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0020 | 0/0 | 2723 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0021 | 0/0 | 2723 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0022 | 0/0 | 704 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| 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 | 0/0 | 8172 | 181 | 31 | 36 | 91 | 3 | 20 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| c0002 | 1/0 | 8172 | 32 | 15 | 4 | 10 | 0 | 2 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| c0003 | 0/0 | 8172 | 19 | 15 | 4 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| c0004 | 0/0 | 8172 | 9 | 0 | 5 | 0 | 4 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| c0005 | 0/0 | 8172 | 7 | 0 | 0 | 7 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| c0006 | 0/1 | 8172 | 5 | 0 | 2 | 0 | 0 | 2 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| c0007 | 0/0 | 8172 | 4 | 4 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| c0008 | 0/0 | 8172 | 4 | 0 | 0 | 4 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| c0009 | 0/0 | 8172 | 3 | 3 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| c0010 | 0/0 | 8172 | 2 | 0 | 0 | 0 | 2 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| c0011 | 0/0 | 8172 | 2 | 2 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| c0012 | 0/0 | 8172 | 2 | 2 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| c0013 | 0/0 | 8172 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| c0014 | 0/0 | 8172 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| c0015 | 0/0 | 8172 | 1 | 0 | 0 | 0 | 1 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| c0016 | 0/0 | 8172 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| c0017 | 0/0 | 8172 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| c0018 | 0/0 | 8172 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| c0019 | 0/0 | 8172 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| c0020 | 0/0 | 8172 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| c0021 | 0/0 | 8172 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| c0022 | 0/0 | 8172 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| c0023 | 0/0 | 8172 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| c0024 | 0/0 | 8172 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| c0025 | 0/0 | 8172 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| c0026 | 0/0 | 8172 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| c0027 | 0/0 | 8172 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| c0028 | 0/0 | 8172 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| c0029 | 0/0 | 8172 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| c0030 | 0/0 | 8172 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| c0031 | 0/0 | 8172 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| c0032 | 0/0 | 7741 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| c0033 | 0/0 | 8172 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| c0034 | 0/0 | 8146 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| thapid | grch38chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 0/0 | 8181 | 89 | 16 | 12 | 50 | 2 | 9 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0002 | 0/1 | 8181 | 80 | 5 | 21 | 39 | 2 | 12 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0003 | 0/0 | 8178 | 28 | 16 | 2 | 9 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0004 | 0/0 | 8181 | 18 | 14 | 4 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0005 | 0/0 | 8181 | 10 | 1 | 5 | 1 | 3 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0006 | 0/0 | 8180 | 7 | 0 | 6 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0007 | 0/0 | 8181 | 4 | 4 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0008 | 0/0 | 8178 | 3 | 2 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0009 | 0/0 | 8181 | 3 | 0 | 0 | 3 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0010 | 0/0 | 8181 | 2 | 2 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0011 | 0/0 | 8181 | 2 | 2 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0012 | 0/0 | 8181 | 2 | 0 | 0 | 0 | 2 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0013 | 0/0 | 8181 | 2 | 2 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0014 | 0/0 | 8181 | 2 | 2 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0015 | 0/0 | 8180 | 2 | 1 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0016 | 0/0 | 8181 | 2 | 0 | 0 | 2 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0017 | 0/0 | 8181 | 2 | 2 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0018 | 0/0 | 8181 | 2 | 0 | 0 | 2 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0019 | 0/0 | 8181 | 2 | 0 | 0 | 2 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0020 | 0/0 | 8171 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0021 | 0/0 | 10930 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0022 | 0/0 | 8178 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0023 | 0/0 | 8179 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0024 | 0/0 | 8179 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0025 | 0/0 | 8178 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0026 | 0/0 | 8178 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0027 | 0/0 | 8178 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0028 | 0/0 | 8178 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0029 | 0/0 | 8181 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0030 | 0/0 | 8181 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0031 | 0/0 | 8181 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0032 | 0/0 | 8181 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0033 | 0/0 | 8181 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0034 | 0/0 | 8181 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0035 | 0/0 | 8181 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0036 | 0/0 | 8181 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0037 | 0/0 | 8180 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0038 | 0/0 | 8181 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0039 | 0/0 | 8181 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0040 | 0/0 | 8181 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0041 | 0/0 | 8181 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0042 | 0/0 | 8180 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0043 | 0/0 | 8181 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0044 | 0/0 | 8181 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0045 | 0/0 | 8181 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0046 | 0/0 | 8181 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0047 | 1/0 | 8178 | 1 | 0 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0048 | 0/0 | 8181 | 1 | 0 | 0 | 0 | 1 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| t0049 | 0/0 | 8181 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| 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 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0003 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0013 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0034 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0035 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0066 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0067 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0079 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0080 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0087 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0089 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0100 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0101 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0102 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0104 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0105 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0108 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0113 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0118 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0122 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0123 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0127 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0131 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0132 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0134 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0135 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0146 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0151 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0156 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0157 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0160 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0163 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0165 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0166 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0167 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0168 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0169 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0172 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0179 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0182 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0183 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0184 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0186 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0191 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0192 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0195 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0196 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0200 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0202 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0212 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0214 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0217 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0219 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0220 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0221 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0222 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0223 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0224 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0226 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0228 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0229 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0230 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0231 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0232 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0233 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0236 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0237 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0238 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0239 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0240 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0241 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0244 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0245 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0246 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0247 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0248 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0249 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0250 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0251 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0252 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0253 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0254 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0255 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0256 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0257 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0258 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0259 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0260 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0261 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0262 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0263 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0264 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0265 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0266 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0267 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0268 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0269 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0270 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0271 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0272 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0273 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0274 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0275 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0276 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0277 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0278 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0279 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0280 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0281 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0282 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0283 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0284 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0285 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0286 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0287 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0288 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0289 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0290 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0291 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| g0292 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| 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 | 0/0 | 8172 | 181 | 31 | 36 | 91 | 3 | 20 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0004 | 0/0 | 8172 | 9 | 0 | 5 | 0 | 4 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0007 | 0/0 | 8172 | 4 | 4 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0008 | 0/0 | 8172 | 4 | 0 | 0 | 4 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0009 | 0/0 | 8172 | 3 | 3 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0019 | 0/0 | 8172 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0020 | 0/0 | 8172 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0023 | 0/0 | 8172 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0024 | 0/0 | 8172 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0030 | 0/0 | 8172 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0031 | 0/0 | 8172 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0002c0002 | 1/0 | 8172 | 32 | 15 | 4 | 10 | 0 | 2 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0002c0014 | 0/0 | 8172 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0003c0003 | 0/0 | 8172 | 19 | 15 | 4 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0003c0012 | 0/0 | 8172 | 2 | 2 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0004c0005 | 0/0 | 8172 | 7 | 0 | 0 | 7 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0005c0006 | 0/1 | 8172 | 5 | 0 | 2 | 0 | 0 | 2 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0006c0011 | 0/0 | 8172 | 2 | 2 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0007c0010 | 0/0 | 8172 | 2 | 0 | 0 | 0 | 2 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0008c0034 | 0/0 | 8146 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0009c0033 | 0/0 | 8172 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0010c0015 | 0/0 | 8172 | 1 | 0 | 0 | 0 | 1 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0011c0029 | 0/0 | 8172 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0012c0028 | 0/0 | 8172 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0013c0027 | 0/0 | 8172 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0014c0026 | 0/0 | 8172 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0015c0021 | 0/0 | 8172 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0016c0022 | 0/0 | 8172 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0017c0025 | 0/0 | 8172 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0018c0018 | 0/0 | 8172 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0019c0013 | 0/0 | 8172 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0020c0017 | 0/0 | 8172 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0021c0016 | 0/0 | 8172 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0022c0032 | 0/0 | 7741 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 16352 | 78 | 16 | 11 | 43 | 1 | 7 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0001t0002 | 0/0 | 16352 | 63 | 1 | 18 | 32 | 2 | 10 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0001t0004 | 0/0 | 16352 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0001t0005 | 0/0 | 16352 | 2 | 1 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0001t0006 | 0/0 | 16351 | 7 | 0 | 6 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0001t0013 | 0/0 | 16352 | 2 | 2 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0001t0014 | 0/0 | 16352 | 2 | 2 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0001t0015 | 0/0 | 16351 | 2 | 1 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0001t0016 | 0/0 | 16352 | 2 | 0 | 0 | 2 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0001t0018 | 0/0 | 16352 | 2 | 0 | 0 | 2 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0001t0019 | 0/0 | 16352 | 2 | 0 | 0 | 2 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0001t0020 | 0/0 | 16342 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0001t0023 | 0/0 | 16350 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0001t0024 | 0/0 | 16350 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0001t0029 | 0/0 | 16352 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0001t0031 | 0/0 | 16352 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0001t0032 | 0/0 | 16352 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0001t0033 | 0/0 | 16352 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0001t0034 | 0/0 | 16352 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0001t0035 | 0/0 | 16352 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0001t0036 | 0/0 | 16352 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0001t0037 | 0/0 | 16351 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0001t0038 | 0/0 | 16352 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0001t0039 | 0/0 | 16352 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0001t0040 | 0/0 | 16352 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0001t0041 | 0/0 | 16352 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0001t0043 | 0/0 | 16352 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0001t0044 | 0/0 | 16352 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0001t0046 | 0/0 | 16352 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0004t0005 | 0/0 | 16352 | 8 | 0 | 5 | 0 | 3 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0004t0048 | 0/0 | 16352 | 1 | 0 | 0 | 0 | 1 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0007t0002 | 0/0 | 16352 | 4 | 4 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0008t0001 | 0/0 | 16352 | 4 | 0 | 0 | 4 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0009t0007 | 0/0 | 16352 | 3 | 3 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0019t0030 | 0/0 | 16352 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0020t0001 | 0/0 | 16352 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0023t0002 | 0/0 | 16352 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0024t0001 | 0/0 | 16352 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0030t0049 | 0/0 | 16352 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0001c0031t0002 | 0/0 | 16352 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0002c0002t0003 | 0/0 | 16349 | 24 | 12 | 2 | 9 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0002c0002t0008 | 0/0 | 16349 | 3 | 2 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0002c0002t0021 | 0/0 | 19101 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0002c0002t0025 | 0/0 | 16349 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0002c0002t0026 | 0/0 | 16349 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0002c0002t0027 | 0/0 | 16349 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0002c0002t0047 | 1/0 | 16349 | 1 | 0 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0002c0014t0003 | 0/0 | 16349 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0003c0003t0004 | 0/0 | 16352 | 17 | 13 | 4 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0003c0003t0010 | 0/0 | 16352 | 2 | 2 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0003c0012t0011 | 0/0 | 16352 | 2 | 2 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0004c0005t0002 | 0/0 | 16352 | 4 | 0 | 0 | 4 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0004c0005t0009 | 0/0 | 16352 | 3 | 0 | 0 | 3 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0005c0006t0002 | 0/1 | 16352 | 5 | 0 | 2 | 0 | 0 | 2 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0006c0011t0017 | 0/0 | 16352 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0006c0011t0045 | 0/0 | 16352 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0007c0010t0012 | 0/0 | 16352 | 2 | 0 | 0 | 0 | 2 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0008c0034t0002 | 0/0 | 16326 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0009c0033t0001 | 0/0 | 16352 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0010c0015t0001 | 0/0 | 16352 | 1 | 0 | 0 | 0 | 1 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0011c0029t0028 | 0/0 | 16349 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0012c0028t0042 | 0/0 | 16351 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0013c0027t0007 | 0/0 | 16352 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0014c0026t0001 | 0/0 | 16352 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0015c0021t0003 | 0/0 | 16349 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0016c0022t0001 | 0/0 | 16352 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0017c0025t0003 | 0/0 | 16349 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0018c0018t0022 | 0/0 | 16349 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0019c0013t0003 | 0/0 | 16349 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0020c0017t0017 | 0/0 | 16352 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0021c0016t0002 | 0/0 | 16352 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| a0022c0032t0001 | 0/0 | 15921 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | copy fasta | chr2 | 203009875 | 203230194 |
| actghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0003 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0013 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0186 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0195 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0196 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0200 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0202 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0212 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0217 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0219 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0220 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0221 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0222 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0224 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0226 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0229 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0231 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0237 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0238 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0244 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0245 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0248 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0249 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0252 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0253 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0255 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0258 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0261 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0262 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0263 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0264 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0265 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0266 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0267 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0268 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0269 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0270 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0287 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0288 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0001g0289 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0079 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0087 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0089 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0104 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0105 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0108 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0113 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0118 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0122 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0123 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0131 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0132 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0134 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0135 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0146 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0151 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0156 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0157 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0166 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0167 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0168 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0172 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0182 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0183 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0184 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0290 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0291 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0002g0292 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0004g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0005g0277 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0005g0283 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0006g0228 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0006g0230 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0006g0232 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0006g0233 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0006g0254 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0006g0259 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0006g0271 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0013g0251 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0013g0257 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0014g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0014g0260 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0015g0127 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0015g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0016g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0016g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0018g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0018g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0019g0279 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0019g0280 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0020g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0023g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0024g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0029g0236 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0031g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0032g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0033g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0034g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0035g0256 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0036g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0037g0272 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0038g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0039g0223 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0040g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0041g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0043g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0044g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0001t0046g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0004t0005g0273 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0004t0005g0274 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0004t0005g0275 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0004t0005g0276 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0004t0005g0278 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0004t0005g0281 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0004t0005g0282 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0004t0005g0284 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0004t0048g0285 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0007t0002g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0007t0002g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0007t0002g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0007t0002g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0008t0001g0239 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0008t0001g0240 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0008t0001g0241 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0008t0001g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0009t0007g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0009t0007g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0009t0007g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0019t0030g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0020t0001g0192 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0023t0002g0169 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0024t0001g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0030t0049g0247 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0001c0031t0002g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0002c0002t0003g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0002c0002t0003g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0002c0002t0003g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0002c0002t0003g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0002c0002t0003g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0002c0002t0003g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0002c0002t0003g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0002c0002t0003g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0002c0002t0003g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0002c0002t0003g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0002c0002t0003g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0002c0002t0003g0066 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0002c0002t0003g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0002c0002t0003g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0002c0002t0003g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0002c0002t0003g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0002c0002t0003g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0002c0002t0003g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0002c0002t0003g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0002c0002t0003g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0002c0002t0003g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0002c0002t0003g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0002c0002t0003g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0002c0002t0003g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0002c0002t0008g0080 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0002c0002t0008g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0002c0002t0008g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0002c0002t0021g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0002c0002t0025g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0002c0002t0026g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0002c0002t0027g0067 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0002c0002t0047g0286 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0002c0014t0003g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0003c0003t0004g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0003c0003t0004g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0003c0003t0004g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0003c0003t0004g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0003c0003t0004g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0003c0003t0004g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0003c0003t0004g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0003c0003t0004g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0003c0003t0004g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0003c0003t0004g0034 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0003c0003t0004g0035 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0003c0003t0004g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0003c0003t0004g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0003c0003t0004g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0003c0003t0004g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0003c0003t0004g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0003c0003t0004g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0003c0003t0010g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0003c0003t0010g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0003c0012t0011g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0003c0012t0011g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0004c0005t0002g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0004c0005t0002g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0004c0005t0002g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0004c0005t0002g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0004c0005t0009g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0004c0005t0009g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0004c0005t0009g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0005c0006t0002g0100 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0005c0006t0002g0160 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0005c0006t0002g0163 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0005c0006t0002g0165 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0005c0006t0002g0179 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0006c0011t0017g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0006c0011t0045g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0007c0010t0012g0101 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0007c0010t0012g0102 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0008c0034t0002g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0009c0033t0001g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0010c0015t0001g0214 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0011c0029t0028g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0012c0028t0042g0250 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0013c0027t0007g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0014c0026t0001g0191 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0015c0021t0003g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0016c0022t0001g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0017c0025t0003g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0018c0018t0022g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0019c0013t0003g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0020c0017t0017g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0021c0016t0002g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| a0022c0032t0001g0246 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00323 | hp1 | a0001 | c0001 | t0002 | g0105 | EUR | FIN | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG00323 | hp2 | a0001 | c0001 | t0001 | g0222 | EUR | FIN | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG00408 | hp1 | a0001 | c0001 | t0002 | g0137 | EAS | CHS | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG00408 | hp2 | a0001 | c0024 | t0001 | g0005 | EAS | CHS | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG00423 | hp1 | a0001 | c0001 | t0002 | g0117 | EAS | CHS | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG00423 | hp2 | a0001 | c0001 | t0001 | g0208 | EAS | CHS | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG00438 | hp1 | a0001 | c0001 | t0005 | g0283 | EAS | CHS | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG00438 | hp2 | a0001 | c0001 | t0002 | g0098 | EAS | CHS | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG00544 | hp1 | a0001 | c0019 | t0030 | g0180 | EAS | CHS | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG00544 | hp2 | a0001 | c0001 | t0038 | g0002 | EAS | CHS | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG00597 | hp1 | a0004 | c0005 | t0002 | g0171 | EAS | CHS | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG00597 | hp2 | a0001 | c0001 | t0039 | g0223 | EAS | CHS | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG00609 | hp1 | a0001 | c0001 | t0018 | g0145 | EAS | CHS | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG00609 | hp2 | a0001 | c0001 | t0036 | g0207 | EAS | CHS | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG00642 | hp1 | a0001 | c0001 | t0006 | g0232 | AMR | PUR | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG00642 | hp2 | a0001 | c0001 | t0002 | g0184 | AMR | PUR | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG00673 | hp1 | a0004 | c0005 | t0009 | g0181 | EAS | CHS | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG00673 | hp2 | a0001 | c0001 | t0001 | g0210 | EAS | CHS | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG00733 | hp1 | a0003 | c0003 | t0004 | g0035 | AMR | PUR | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG00733 | hp2 | a0001 | c0001 | t0015 | g0127 | AMR | PUR | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG00735 | hp1 | a0001 | c0004 | t0005 | g0281 | AMR | PUR | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG00735 | hp2 | a0005 | c0006 | t0002 | g0100 | AMR | PUR | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG00738 | hp1 | a0002 | c0002 | t0003 | g0065 | AMR | PUR | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG00738 | hp2 | a0001 | c0004 | t0005 | g0282 | AMR | PUR | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG00741 | hp1 | a0001 | c0001 | t0001 | g0196 | AMR | PUR | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG00741 | hp2 | a0005 | c0006 | t0002 | g0160 | AMR | PUR | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01081 | hp1 | a0001 | c0001 | t0001 | g0220 | AMR | PUR | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01081 | hp2 | a0001 | c0001 | t0002 | g0133 | AMR | PUR | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01099 | hp1 | a0001 | c0004 | t0005 | g0274 | AMR | PUR | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01099 | hp2 | a0001 | c0001 | t0002 | g0106 | AMR | PUR | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01109 | hp1 | a0003 | c0003 | t0004 | g0030 | AMR | PUR | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01109 | hp2 | a0001 | c0001 | t0002 | g0166 | AMR | PUR | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01167 | hp1 | a0001 | c0004 | t0005 | g0278 | AMR | PUR | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01167 | hp2 | a0001 | c0001 | t0002 | g0168 | AMR | PUR | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01168 | hp1 | a0003 | c0003 | t0004 | g0032 | AMR | PUR | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01168 | hp2 | a0001 | c0001 | t0001 | g0221 | AMR | PUR | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01169 | hp1 | a0003 | c0003 | t0004 | g0034 | AMR | PUR | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01169 | hp2 | a0001 | c0001 | t0002 | g0167 | AMR | PUR | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01175 | hp1 | a0001 | c0001 | t0001 | g0212 | AMR | PUR | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01175 | hp2 | a0001 | c0001 | t0002 | g0157 | AMR | PUR | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01192 | hp1 | a0014 | c0026 | t0001 | g0191 | AMR | PUR | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01192 | hp2 | a0001 | c0001 | t0002 | g0183 | AMR | PUR | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01255 | hp1 | a0001 | c0001 | t0006 | g0228 | AMR | CLM | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01255 | hp2 | a0001 | c0001 | t0002 | g0151 | AMR | CLM | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01256 | hp1 | a0001 | c0001 | t0001 | g0267 | AMR | CLM | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01256 | hp2 | a0001 | c0001 | t0002 | g0123 | AMR | CLM | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01257 | hp1 | a0001 | c0001 | t0002 | g0089 | AMR | CLM | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01257 | hp2 | a0001 | c0001 | t0001 | g0008 | AMR | CLM | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01258 | hp1 | a0001 | c0001 | t0001 | g0007 | AMR | CLM | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01258 | hp2 | a0001 | c0001 | t0002 | g0131 | AMR | CLM | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01358 | hp1 | a0001 | c0001 | t0006 | g0233 | AMR | CLM | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01358 | hp2 | a0001 | c0023 | t0002 | g0169 | AMR | CLM | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01361 | hp1 | a0001 | c0030 | t0049 | g0247 | AMR | CLM | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01361 | hp2 | a0001 | c0001 | t0002 | g0290 | AMR | CLM | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01496 | hp1 | a0001 | c0001 | t0002 | g0134 | AMR | CLM | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01496 | hp2 | a0001 | c0004 | t0005 | g0273 | AMR | CLM | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01515 | hp1 | a0007 | c0010 | t0012 | g0101 | EUR | IBS | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01515 | hp2 | a0001 | c0004 | t0048 | g0285 | EUR | IBS | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01516 | hp1 | a0010 | c0015 | t0001 | g0214 | EUR | IBS | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01516 | hp2 | a0001 | c0004 | t0005 | g0275 | EUR | IBS | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01517 | hp1 | a0001 | c0004 | t0005 | g0276 | EUR | IBS | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01517 | hp2 | a0007 | c0010 | t0012 | g0102 | EUR | IBS | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01884 | hp1 | a0003 | c0003 | t0004 | g0042 | AFR | ACB | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01884 | hp2 | a0001 | c0001 | t0023 | g0045 | AFR | ACB | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01943 | hp1 | a0001 | c0001 | t0001 | g0202 | AMR | PEL | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01943 | hp2 | a0002 | c0002 | t0026 | g0094 | AMR | PEL | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01952 | hp1 | a0001 | c0001 | t0002 | g0079 | AMR | PEL | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01952 | hp2 | a0001 | c0001 | t0006 | g0271 | AMR | PEL | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01975 | hp1 | a0001 | c0001 | t0001 | g0195 | AMR | PEL | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01975 | hp2 | a0002 | c0002 | t0003 | g0061 | AMR | PEL | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01981 | hp1 | a0001 | c0001 | t0002 | g0122 | AMR | PEL | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG01981 | hp2 | a0001 | c0001 | t0006 | g0230 | AMR | PEL | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02055 | hp1 | a0012 | c0028 | t0042 | g0250 | AFR | ACB | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02055 | hp2 | a0001 | c0001 | t0024 | g0016 | AFR | ACB | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02056 | hp1 | a0001 | c0001 | t0002 | g0158 | EAS | KHV | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02056 | hp2 | a0001 | c0001 | t0001 | g0198 | EAS | KHV | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02080 | hp1 | a0001 | c0001 | t0001 | g0225 | EAS | KHV | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02080 | hp2 | a0001 | c0001 | t0002 | g0116 | EAS | KHV | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02083 | hp1 | a0001 | c0001 | t0002 | g0139 | EAS | KHV | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02083 | hp2 | a0001 | c0001 | t0001 | g0011 | EAS | KHV | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02129 | hp1 | a0002 | c0002 | t0003 | g0070 | EAS | KHV | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02129 | hp2 | a0001 | c0001 | t0001 | g0197 | EAS | KHV | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02132 | hp1 | a0002 | c0002 | t0003 | g0069 | EAS | KHV | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02132 | hp2 | a0001 | c0001 | t0018 | g0144 | EAS | KHV | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02135 | hp1 | a0001 | c0001 | t0040 | g0012 | EAS | KHV | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02135 | hp2 | a0001 | c0001 | t0001 | g0255 | EAS | KHV | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02145 | hp1 | a0001 | c0007 | t0002 | g0059 | AFR | ACB | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02145 | hp2 | a0002 | c0002 | t0003 | g0048 | AFR | ACB | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02165 | hp1 | a0001 | c0001 | t0002 | g0097 | EAS | CDX | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02165 | hp2 | a0001 | c0001 | t0001 | g0289 | EAS | CDX | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02257 | hp1 | a0001 | c0007 | t0002 | g0090 | AFR | ACB | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02257 | hp2 | a0015 | c0021 | t0003 | g0074 | AFR | ACB | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02258 | hp1 | a0001 | c0001 | t0001 | g0051 | AFR | ACB | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02258 | hp2 | a0003 | c0003 | t0004 | g0031 | AFR | ACB | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02273 | hp1 | a0001 | c0001 | t0002 | g0292 | AMR | PEL | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02273 | hp2 | a0001 | c0001 | t0006 | g0259 | AMR | PEL | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02293 | hp1 | a0002 | c0002 | t0008 | g0080 | AMR | PEL | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02293 | hp2 | a0001 | c0001 | t0001 | g0010 | AMR | PEL | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02300 | hp1 | a0001 | c0001 | t0002 | g0291 | AMR | PEL | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02300 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02451 | hp1 | a0001 | c0001 | t0041 | g0054 | AFR | ACB | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02451 | hp2 | a0002 | c0002 | t0003 | g0046 | AFR | ACB | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02523 | hp1 | a0001 | c0001 | t0001 | g0234 | EAS | KHV | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02523 | hp2 | a0001 | c0001 | t0002 | g0111 | EAS | KHV | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02572 | hp1 | a0003 | c0003 | t0004 | g0029 | AFR | GWD | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02572 | hp2 | a0001 | c0001 | t0001 | g0218 | AFR | GWD | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02602 | hp1 | a0001 | c0001 | t0035 | g0256 | SAS | PJL | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02602 | hp2 | a0001 | c0001 | t0002 | g0118 | SAS | PJL | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02622 | hp1 | a0001 | c0007 | t0002 | g0092 | AFR | GWD | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02622 | hp2 | a0001 | c0001 | t0034 | g0058 | AFR | GWD | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02630 | hp1 | a0002 | c0002 | t0003 | g0086 | AFR | GWD | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02630 | hp2 | a0001 | c0001 | t0001 | g0264 | AFR | GWD | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02717 | hp1 | a0002 | c0002 | t0003 | g0049 | AFR | GWD | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02717 | hp2 | a0001 | c0001 | t0005 | g0277 | AFR | GWD | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02723 | hp1 | a0002 | c0002 | t0003 | g0084 | AFR | GWD | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02723 | hp2 | a0001 | c0001 | t0001 | g0217 | AFR | GWD | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02818 | hp1 | a0001 | c0001 | t0001 | g0263 | AFR | GWD | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02818 | hp2 | a0003 | c0003 | t0004 | g0036 | AFR | GWD | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02886 | hp1 | a0002 | c0002 | t0008 | g0093 | AFR | GWD | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02886 | hp2 | a0001 | c0001 | t0001 | g0219 | AFR | GWD | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02895 | hp1 | a0003 | c0003 | t0010 | g0044 | AFR | GWD | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02895 | hp2 | a0002 | c0002 | t0003 | g0050 | AFR | GWD | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02896 | hp1 | a0001 | c0001 | t0013 | g0257 | AFR | GWD | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02896 | hp2 | a0003 | c0003 | t0004 | g0028 | AFR | GWD | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02897 | hp1 | a0001 | c0001 | t0013 | g0251 | AFR | GWD | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02897 | hp2 | a0003 | c0003 | t0010 | g0041 | AFR | GWD | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02970 | hp1 | a0002 | c0002 | t0003 | g0082 | AFR | ESN | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02970 | hp2 | a0001 | c0001 | t0014 | g0019 | AFR | ESN | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02976 | hp1 | a0001 | c0009 | t0007 | g0055 | AFR | ESN | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02976 | hp2 | a0001 | c0001 | t0001 | g0215 | AFR | ESN | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG03041 | hp1 | a0001 | c0001 | t0001 | g0261 | AFR | GWD | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG03041 | hp2 | a0003 | c0003 | t0004 | g0037 | AFR | GWD | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG03098 | hp1 | a0002 | c0002 | t0003 | g0021 | AFR | MSL | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG03098 | hp2 | a0003 | c0003 | t0004 | g0027 | AFR | MSL | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG03130 | hp1 | a0003 | c0003 | t0004 | g0038 | AFR | ESN | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG03130 | hp2 | a0019 | c0013 | t0003 | g0077 | AFR | ESN | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG03139 | hp1 | a0001 | c0009 | t0007 | g0056 | AFR | ESN | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG03139 | hp2 | a0002 | c0002 | t0025 | g0075 | AFR | ESN | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG03195 | hp1 | a0002 | c0014 | t0003 | g0076 | AFR | ESN | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG03195 | hp2 | a0006 | c0011 | t0045 | g0023 | AFR | ESN | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG03209 | hp1 | a0001 | c0001 | t0046 | g0187 | AFR | MSL | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG03209 | hp2 | a0002 | c0002 | t0003 | g0083 | AFR | MSL | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG03225 | hp1 | a0003 | c0003 | t0004 | g0024 | AFR | MSL | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG03225 | hp2 | a0006 | c0011 | t0017 | g0018 | AFR | MSL | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG03239 | hp1 | a0002 | c0002 | t0027 | g0067 | SAS | PJL | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG03239 | hp2 | a0001 | c0001 | t0002 | g0135 | SAS | PJL | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG03453 | hp1 | a0001 | c0001 | t0002 | g0129 | AFR | MSL | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG03453 | hp2 | a0020 | c0017 | t0017 | g0017 | AFR | MSL | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG03490 | hp1 | a0001 | c0001 | t0001 | g0269 | SAS | PJL | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG03490 | hp2 | a0001 | c0001 | t0002 | g0172 | SAS | PJL | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG03491 | hp1 | a0005 | c0006 | t0002 | g0179 | SAS | PJL | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG03491 | hp2 | a0001 | c0020 | t0001 | g0192 | SAS | PJL | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG03492 | hp1 | a0001 | c0001 | t0001 | g0270 | SAS | PJL | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG03492 | hp2 | a0005 | c0006 | t0002 | g0165 | SAS | PJL | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG03516 | hp1 | a0001 | c0001 | t0001 | g0268 | AFR | ESN | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG03516 | hp2 | a0003 | c0003 | t0004 | g0040 | AFR | ESN | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG03540 | hp1 | a0002 | c0002 | t0003 | g0085 | AFR | GWD | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG03540 | hp2 | a0003 | c0003 | t0004 | g0026 | AFR | GWD | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG03579 | hp1 | a0017 | c0025 | t0003 | g0047 | AFR | MSL | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG03579 | hp2 | a0001 | c0001 | t0029 | g0236 | AFR | MSL | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG03669 | hp1 | a0001 | c0001 | t0002 | g0087 | SAS | PJL | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG03669 | hp2 | a0001 | c0001 | t0001 | g0200 | SAS | PJL | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG03688 | hp1 | a0022 | c0032 | t0001 | g0246 | SAS | STU | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG03688 | hp2 | a0001 | c0001 | t0002 | g0156 | SAS | STU | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG03710 | hp1 | a0002 | c0002 | t0003 | g0066 | SAS | PJL | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG03710 | hp2 | a0001 | c0001 | t0037 | g0272 | SAS | PJL | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG03831 | hp1 | a0001 | c0001 | t0002 | g0182 | SAS | BEB | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG03831 | hp2 | a0001 | c0001 | t0001 | g0003 | SAS | BEB | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG03834 | hp1 | a0001 | c0001 | t0002 | g0132 | SAS | BEB | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG03834 | hp2 | a0001 | c0001 | t0001 | g0186 | SAS | BEB | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG03942 | hp1 | a0001 | c0001 | t0002 | g0113 | SAS | BEB | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG03942 | hp2 | a0001 | c0001 | t0001 | g0013 | SAS | BEB | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG04115 | hp1 | a0001 | c0001 | t0006 | g0254 | SAS | STU | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG04115 | hp2 | a0001 | c0001 | t0002 | g0104 | SAS | STU | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG04228 | hp1 | a0001 | c0001 | t0002 | g0146 | SAS | STU | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG04228 | hp2 | a0001 | c0001 | t0001 | g0253 | SAS | STU | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18747 | hp1 | a0001 | c0001 | t0001 | g0004 | EAS | CHB | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18747 | hp2 | a0001 | c0001 | t0002 | g0142 | EAS | CHB | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18906 | hp1 | a0002 | c0002 | t0003 | g0078 | AFR | YRI | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18906 | hp2 | a0001 | c0001 | t0001 | g0262 | AFR | YRI | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18939 | hp1 | a0008 | c0034 | t0002 | g0115 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18939 | hp2 | a0001 | c0001 | t0044 | g0201 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18940 | hp1 | a0001 | c0001 | t0001 | g0211 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18940 | hp2 | a0001 | c0001 | t0002 | g0162 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18945 | hp1 | a0001 | c0001 | t0001 | g0258 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18945 | hp2 | a0001 | c0001 | t0002 | g0138 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18946 | hp1 | a0001 | c0001 | t0002 | g0120 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18946 | hp2 | a0001 | c0001 | t0001 | g0209 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18948 | hp1 | a0001 | c0001 | t0001 | g0266 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18948 | hp2 | a0002 | c0002 | t0003 | g0062 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18949 | hp1 | a0001 | c0001 | t0001 | g0249 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18949 | hp2 | a0001 | c0001 | t0016 | g0155 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18951 | hp1 | a0001 | c0001 | t0002 | g0121 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18951 | hp2 | a0001 | c0008 | t0001 | g0240 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18952 | hp1 | a0001 | c0001 | t0001 | g0185 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18952 | hp2 | a0001 | c0001 | t0019 | g0280 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18954 | hp1 | a0001 | c0001 | t0001 | g0238 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18954 | hp2 | a0001 | c0001 | t0002 | g0178 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18965 | hp1 | a0004 | c0005 | t0009 | g0170 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18965 | hp2 | a0001 | c0001 | t0001 | g0009 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18966 | hp1 | a0001 | c0001 | t0019 | g0279 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18966 | hp2 | a0002 | c0002 | t0003 | g0073 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18968 | hp1 | a0001 | c0008 | t0001 | g0241 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18968 | hp2 | a0002 | c0002 | t0003 | g0068 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18969 | hp1 | a0002 | c0002 | t0021 | g0072 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18969 | hp2 | a0001 | c0001 | t0001 | g0245 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18970 | hp1 | a0001 | c0001 | t0002 | g0143 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18970 | hp2 | a0001 | c0001 | t0001 | g0243 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18974 | hp1 | a0001 | c0001 | t0002 | g0164 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18974 | hp2 | a0001 | c0001 | t0001 | g0213 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18977 | hp1 | a0001 | c0001 | t0001 | g0229 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18977 | hp2 | a0004 | c0005 | t0009 | g0176 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18980 | hp1 | a0001 | c0001 | t0002 | g0099 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18980 | hp2 | a0001 | c0001 | t0001 | g0235 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18981 | hp1 | a0001 | c0001 | t0001 | g0014 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18981 | hp2 | a0001 | c0001 | t0020 | g0140 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18982 | hp1 | a0009 | c0033 | t0001 | g0203 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18982 | hp2 | a0001 | c0001 | t0002 | g0153 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18983 | hp1 | a0001 | c0001 | t0032 | g0141 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18983 | hp2 | a0001 | c0001 | t0001 | g0177 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18984 | hp1 | a0001 | c0001 | t0001 | g0265 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18984 | hp2 | a0001 | c0001 | t0002 | g0125 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18986 | hp1 | a0001 | c0001 | t0001 | g0227 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18986 | hp2 | a0001 | c0001 | t0002 | g0107 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18988 | hp1 | a0002 | c0002 | t0003 | g0063 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18988 | hp2 | a0016 | c0022 | t0001 | g0190 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18991 | hp1 | a0001 | c0001 | t0001 | g0244 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18991 | hp2 | a0001 | c0001 | t0002 | g0103 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18994 | hp1 | a0001 | c0031 | t0002 | g0159 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18994 | hp2 | a0001 | c0001 | t0001 | g0288 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18995 | hp1 | a0001 | c0001 | t0001 | g0252 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18995 | hp2 | a0001 | c0001 | t0016 | g0161 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18998 | hp1 | a0004 | c0005 | t0002 | g0175 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18998 | hp2 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18999 | hp1 | a0001 | c0001 | t0001 | g0205 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA18999 | hp2 | a0001 | c0001 | t0002 | g0148 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA19003 | hp1 | a0001 | c0001 | t0002 | g0124 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA19003 | hp2 | a0001 | c0001 | t0001 | g0237 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA19004 | hp1 | a0001 | c0001 | t0002 | g0126 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA19004 | hp2 | a0001 | c0001 | t0001 | g0194 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA19009 | hp1 | a0001 | c0001 | t0002 | g0147 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA19009 | hp2 | a0001 | c0001 | t0001 | g0287 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA19010 | hp1 | a0001 | c0001 | t0043 | g0096 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA19010 | hp2 | a0001 | c0008 | t0001 | g0242 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA19030 | hp1 | a0001 | c0001 | t0033 | g0136 | AFR | LWK | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA19030 | hp2 | a0001 | c0001 | t0001 | g0216 | AFR | LWK | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA19043 | hp1 | a0003 | c0012 | t0011 | g0043 | AFR | LWK | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA19043 | hp2 | a0001 | c0007 | t0002 | g0091 | AFR | LWK | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA19057 | hp1 | a0004 | c0005 | t0002 | g0173 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA19057 | hp2 | a0001 | c0001 | t0001 | g0206 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA19062 | hp1 | a0001 | c0008 | t0001 | g0239 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA19062 | hp2 | a0001 | c0001 | t0002 | g0119 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA19063 | hp1 | a0001 | c0001 | t0001 | g0224 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA19063 | hp2 | a0021 | c0016 | t0002 | g0109 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA19064 | hp1 | a0001 | c0001 | t0001 | g0204 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA19064 | hp2 | a0002 | c0002 | t0003 | g0060 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA19065 | hp1 | a0001 | c0001 | t0001 | g0015 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA19065 | hp2 | a0001 | c0001 | t0002 | g0110 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA19066 | hp1 | a0001 | c0001 | t0001 | g0226 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA19066 | hp2 | a0001 | c0001 | t0031 | g0114 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA19070 | hp1 | a0001 | c0001 | t0001 | g0193 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA19070 | hp2 | a0001 | c0001 | t0002 | g0152 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA19077 | hp1 | a0011 | c0029 | t0028 | g0095 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA19077 | hp2 | a0004 | c0005 | t0002 | g0174 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA19078 | hp1 | a0001 | c0001 | t0001 | g0248 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA19078 | hp2 | a0001 | c0001 | t0002 | g0149 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA19083 | hp1 | a0001 | c0001 | t0001 | g0189 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA19083 | hp2 | a0001 | c0001 | t0002 | g0154 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA19084 | hp1 | a0001 | c0001 | t0002 | g0112 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA19084 | hp2 | a0002 | c0002 | t0003 | g0071 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA19088 | hp1 | a0001 | c0001 | t0002 | g0150 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA19088 | hp2 | a0002 | c0002 | t0003 | g0064 | EAS | JPT | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA19240 | hp1 | a0001 | c0001 | t0001 | g0231 | AFR | YRI | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA19240 | hp2 | a0001 | c0001 | t0001 | g0052 | AFR | YRI | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA20129 | hp1 | a0001 | c0001 | t0004 | g0081 | AFR | ASW | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA20129 | hp2 | a0003 | c0003 | t0004 | g0033 | AFR | ASW | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA20752 | hp1 | a0001 | c0001 | t0002 | g0108 | EUR | TSI | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA20752 | hp2 | a0001 | c0004 | t0005 | g0284 | EUR | TSI | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02109 | hp1 | a0018 | c0018 | t0022 | g0022 | AFR | ACB | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02109 | hp2 | a0013 | c0027 | t0007 | g0053 | AFR | ACB | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02486 | hp1 | a0001 | c0001 | t0001 | g0020 | AFR | ACB | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02486 | hp2 | a0001 | c0001 | t0014 | g0260 | AFR | ACB | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02559 | hp1 | a0002 | c0002 | t0003 | g0130 | AFR | ACB | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG02559 | hp2 | a0003 | c0012 | t0011 | g0025 | AFR | ACB | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG06807 | hp1 | a0003 | c0003 | t0004 | g0039 | AFR | USA | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| HG06807 | hp2 | a0001 | c0001 | t0001 | g0188 | AFR | USA | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA20300 | hp1 | a0001 | c0001 | t0001 | g0199 | AFR | USA | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA20300 | hp2 | a0001 | c0009 | t0007 | g0057 | AFR | USA | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA21309 | hp1 | a0002 | c0002 | t0008 | g0088 | AFR | LWK | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| NA21309 | hp2 | a0001 | c0001 | t0015 | g0128 | AFR | LWK | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| homoSapiens_chm13v2 | hp1 | a0005 | c0006 | t0002 | g0163 | REF | REF | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| homoSapiens_grch38 | hp1 | a0002 | c0002 | t0047 | g0286 | REF | REF | NBEAL1_chr2_203009875_203230194 | NBEAL1 | chr2 | 203009875 | 203230194 |
| chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:203056420
|
CTCACAGA others(25): Show |
C | 1 | a0008 | 1 | NA18939.hp1 | frameshift_variant&splice_acceptor_variant&splice_region_variant&intron_variant | HIGH | c.306-6_331delTCACAG others(26): Show |
p.Asn103fs | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 5/56 | 306/8172 | 102/2723 | chr2 | 203056420 | |||
| chr2:203083393
|
C | T | 1 | a0009 | 1 | NA18982.hp1 | missense_variant | MODERATE | c.859C>T | p.Arg287Cys | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 9/56 | 1196/16349 | 859/8172 | 287/2723 | chr2 | 203083393 | ||
| chr2:203111919
|
TTTGTCAT others(4065): Show |
T | 1 | a0022 | 1 | HG03688.hp1 | exon_loss_variant | HIGH | c.2083-55_2517del | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 16/56 | INFO_REALIGN_3_PRIME | chr2 | 203111919 | |||||
| chr2:203113256
|
G | A | 1 | a0010 | 1 | HG01516.hp1 | missense_variant | MODERATE | c.2444G>A | p.Gly815Glu | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 17/56 | 2781/16349 | 2444/8172 | 815/2723 | chr2 | 203113256 | ||
| chr2:203125355
|
A | G | 1 | a0003 | 21 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(18): Show |
missense_variant | MODERATE | c.2686A>G | p.Ile896Val | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 20/56 | 3023/16349 | 2686/8172 | 896/2723 | chr2 | 203125355 | ||
| chr2:203126050
|
T | C | 1 | a0021 | 1 | NA19063.hp2 | missense_variant | MODERATE | c.2942T>C | p.Ile981Thr | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 21/56 | 3279/16349 | 2942/8172 | 981/2723 | chr2 | 203126050 | ||
| chr2:203130423
|
G | A | 1 | a0020 | 1 | HG03453.hp2 | missense_variant | MODERATE | c.3511G>A | p.Ala1171Thr | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 25/56 | 3848/16349 | 3511/8172 | 1171/2723 | chr2 | 203130423 | ||
| chr2:203132090
|
A | T | 2 | a0006a0020 | 3 | HG03195.hp2 HG03225.hp2 HG03453.hp2 |
missense_variant | MODERATE | c.3682A>T | p.Thr1228Ser | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 26/56 | 4019/16349 | 3682/8172 | 1228/2723 | chr2 | 203132090 | ||
| chr2:203135710
|
G | A | 1 | a0019 | 1 | HG03130.hp2 | missense_variant | MODERATE | c.3847G>A | p.Ala1283Thr | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 28/56 | 4184/16349 | 3847/8172 | 1283/2723 | chr2 | 203135710 | ||
| chr2:203135938
|
A | C | 1 | a0011 | 1 | NA19077.hp1 | missense_variant | MODERATE | c.4075A>C | p.Ser1359Arg | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 28/56 | 4412/16349 | 4075/8172 | 1359/2723 | chr2 | 203135938 | ||
| chr2:203136122
|
C | T | 1 | a0012 | 1 | HG02055.hp1 | missense_variant | MODERATE | c.4259C>T | p.Pro1420Leu | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 28/56 | 4596/16349 | 4259/8172 | 1420/2723 | chr2 | 203136122 | ||
| chr2:203136214
|
G | A | 1 | a0018 | 1 | HG02109.hp1 | missense_variant | MODERATE | c.4351G>A | p.Gly1451Ser | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 28/56 | 4688/16349 | 4351/8172 | 1451/2723 | chr2 | 203136214 | ||
| chr2:203144736
|
A | T | 1 | a0013 | 1 | HG02109.hp2 | missense_variant | MODERATE | c.4985A>T | p.Tyr1662Phe | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 32/56 | 5322/16349 | 4985/8172 | 1662/2723 | chr2 | 203144736 | ||
| chr2:203149025
|
G | A | 1 | a0007 | 2 | HG01515.hp1 HG01517.hp2 |
missense_variant | MODERATE | c.5339G>A | p.Arg1780His | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 34/56 | 5676/16349 | 5339/8172 | 1780/2723 | chr2 | 203149025 | ||
| chr2:203157755
|
G | T | 1 | a0004 | 7 | HG00597.hp1 HG00673.hp1 NA18965.hp1 others(4): Show |
missense_variant | MODERATE | c.5644G>T | p.Val1882Leu | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/56 | 5981/16349 | 5644/8172 | 1882/2723 | chr2 | 203157755 | ||
| chr2:203166295
|
A | C | 1 | a0014 | 1 | HG01192.hp1 | missense_variant&splice_region_variant | MODERATE | c.5861A>C | p.Asp1954Ala | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 37/56 | 6198/16349 | 5861/8172 | 1954/2723 | chr2 | 203166295 | ||
| chr2:203167347
|
A | G | 1 | a0017 | 1 | HG03579.hp1 | missense_variant | MODERATE | c.5984A>G | p.Asn1995Ser | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 38/56 | 6321/16349 | 5984/8172 | 1995/2723 | chr2 | 203167347 | ||
| chr2:203188550
|
G | A | 1 | a0015 | 1 | HG02257.hp2 | missense_variant | MODERATE | c.6784G>A | p.Val2262Ile | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 45/56 | 7121/16349 | 6784/8172 | 2262/2723 | chr2 | 203188550 | ||
| chr2:203197338
|
A | G | 16 | a0001a0003a0004others(13): Show | 254 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(251): Show |
missense_variant | MODERATE | c.7075A>G | p.Ile2359Val | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 48/56 | 7412/16349 | 7075/8172 | 2359/2723 | chr2 | 203197338 | ||
| chr2:203208691
|
A | G | 1 | a0005 | 5 | HG00735.hp2 HG00741.hp2 HG03491.hp1 others(2): Show |
missense_variant | MODERATE | c.7561A>G | p.Thr2521Ala | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 52/56 | 7898/16349 | 7561/8172 | 2521/2723 | chr2 | 203208691 | ||
| chr2:203209297
|
G | A | 1 | a0016 | 1 | NA18988.hp2 | missense_variant | MODERATE | c.7760G>A | p.Ser2587Asn | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 53/56 | 8097/16349 | 7760/8172 | 2587/2723 | chr2 | 203209297 |
| chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:203110255
|
T | C | 2 | a0002c0014a0019c0013 | 2 | HG03130.hp2 HG03195.hp1 |
synonymous_variant | LOW | c.2055T>C | p.Pro685Pro | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 15/56 | 2392/16349 | 2055/8172 | 685/2723 | chr2 | 203110255 | ||
| chr2:203113065
|
T | C | 1 | a0001c0007 | 4 | HG02145.hp1 HG02257.hp1 HG02622.hp1 others(1): Show |
synonymous_variant | LOW | c.2253T>C | p.Pro751Pro | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 17/56 | 2590/16349 | 2253/8172 | 751/2723 | chr2 | 203113065 | ||
| chr2:203125495
|
C | A | 1 | a0003c0003 | 19 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(16): Show |
synonymous_variant | LOW | c.2826C>A | p.Leu942Leu | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 20/56 | 3163/16349 | 2826/8172 | 942/2723 | chr2 | 203125495 | ||
| chr2:203126066
|
T | G | 1 | a0001c0004 | 9 | HG00735.hp1 HG00738.hp2 HG01099.hp1 others(6): Show |
synonymous_variant | LOW | c.2958T>G | p.Val986Val | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 21/56 | 3295/16349 | 2958/8172 | 986/2723 | chr2 | 203126066 | ||
| chr2:203132011
|
G | A | 1 | a0001c0009 | 3 | HG02976.hp1 HG03139.hp1 NA20300.hp2 |
synonymous_variant | LOW | c.3603G>A | p.Glu1201Glu | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 26/56 | 3940/16349 | 3603/8172 | 1201/2723 | chr2 | 203132011 | ||
| chr2:203135685
|
A | G | 1 | a0001c0031 | 1 | NA18994.hp1 | synonymous_variant | LOW | c.3822A>G | p.Gln1274Gln | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 28/56 | 4159/16349 | 3822/8172 | 1274/2723 | chr2 | 203135685 | ||
| chr2:203135724
|
A | G | 1 | a0001c0030 | 1 | HG01361.hp1 | synonymous_variant | LOW | c.3861A>G | p.Ser1287Ser | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 28/56 | 4198/16349 | 3861/8172 | 1287/2723 | chr2 | 203135724 | ||
| chr2:203151498
|
T | C | 1 | a0001c0019 | 1 | HG00544.hp1 | synonymous_variant | LOW | c.5496T>C | p.Asn1832Asn | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/56 | 5833/16349 | 5496/8172 | 1832/2723 | chr2 | 203151498 | ||
| chr2:203151543
|
T | C | 1 | a0001c0008 | 4 | NA18951.hp2 NA18968.hp1 NA19010.hp2 others(1): Show |
synonymous_variant | LOW | c.5541T>C | p.Tyr1847Tyr | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/56 | 5878/16349 | 5541/8172 | 1847/2723 | chr2 | 203151543 | ||
| chr2:203169836
|
A | G | 1 | a0001c0024 | 1 | HG00408.hp2 | synonymous_variant | LOW | c.6087A>G | p.Ala2029Ala | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 39/56 | 6424/16349 | 6087/8172 | 2029/2723 | chr2 | 203169836 | ||
| chr2:203172767
|
G | A | 1 | a0001c0020 | 1 | HG03491.hp2 | synonymous_variant | LOW | c.6237G>A | p.Leu2079Leu | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 41/56 | 6574/16349 | 6237/8172 | 2079/2723 | chr2 | 203172767 | ||
| chr2:203211029
|
A | G | 1 | a0001c0023 | 1 | HG01358.hp2 | synonymous_variant | LOW | c.7857A>G | p.Val2619Val | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 54/56 | 8194/16349 | 7857/8172 | 2619/2723 | chr2 | 203211029 |
| chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:203014882
|
C | T | 1 | a0001c0030t0049 | 1 | HG01361.hp1 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-330C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 1/56 | chr2 | 203014882 | ||||||
| chr2:203014895
|
GCGGGGTG others(3): Show |
G | 1 | a0001c0001t0020 | 1 | NA18981.hp2 | 5_prime_UTR_variant | MODIFIER | c.-311_-302delTGACAC others(4): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 1/56 | 1475 | INFO_REALIGN_3_PRIME | chr2 | 203014895 | ||||
| chr2:203016269
|
T | C | 67 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(64): Show | 278 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(275): Show |
5_prime_UTR_variant | MODIFIER | c.-116T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/56 | 116 | chr2 | 203016269 | |||||
| chr2:203217528
|
A | G | 1 | a0001c0001t0018 | 2 | HG00609.hp1 HG02132.hp2 |
3_prime_UTR_variant | MODIFIER | c.*174A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 174 | chr2 | 203217528 | |||||
| chr2:203218034
|
A | C | 1 | a0001c0001t0046 | 1 | HG03209.hp1 | 3_prime_UTR_variant | MODIFIER | c.*680A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 680 | chr2 | 203218034 | |||||
| chr2:203218165
|
T | TAAGAGTT others(2745): Show |
1 | a0002c0002t0021 | 1 | NA18969.hp1 | 3_prime_UTR_variant | MODIFIER | c.*820_*821insGGTCTC others(2746): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 821 | INFO_REALIGN_3_PRIME | chr2 | 203218165 | ||||
| chr2:203218255
|
A | T | 3 | a0006c0011t0017a0006c0011t0045a0020c0017t0017 | 3 | HG03195.hp2 HG03225.hp2 HG03453.hp2 |
3_prime_UTR_variant | MODIFIER | c.*901A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 901 | chr2 | 203218255 | |||||
| chr2:203218330
|
T | TTA | 57 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(54): Show | 252 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(249): Show |
3_prime_UTR_variant | MODIFIER | c.*977_*978dupTA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 979 | INFO_REALIGN_3_PRIME | chr2 | 203218330 | ||||
| chr2:203218912
|
A | G | 1 | a0001c0001t0044 | 1 | NA18939.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1558A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 1558 | chr2 | 203218912 | |||||
| chr2:203219333
|
G | A | 1 | a0001c0001t0029 | 1 | HG03579.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1979G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 1979 | chr2 | 203219333 | |||||
| chr2:203219503
|
A | C | 1 | a0001c0001t0043 | 1 | NA19010.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2149A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 2149 | chr2 | 203219503 | |||||
| chr2:203219538
|
T | C | 1 | a0018c0018t0022 | 1 | HG02109.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2184T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 2184 | chr2 | 203219538 | |||||
| chr2:203219541
|
T | G | 1 | a0001c0019t0030 | 1 | HG00544.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2187T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 2187 | chr2 | 203219541 | |||||
| chr2:203219630
|
C | T | 1 | a0012c0028t0042 | 1 | HG02055.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2276C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 2276 | chr2 | 203219630 | |||||
| chr2:203219767
|
A | G | 1 | a0001c0001t0016 | 2 | NA18949.hp2 NA18995.hp2 |
3_prime_UTR_variant | MODIFIER | c.*2413A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 2413 | chr2 | 203219767 | |||||
| chr2:203219768
|
G | C | 1 | a0001c0001t0016 | 2 | NA18949.hp2 NA18995.hp2 |
3_prime_UTR_variant | MODIFIER | c.*2414G>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 2414 | chr2 | 203219768 | |||||
| chr2:203219866
|
G | GA | 58 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(55): Show | 252 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(249): Show |
3_prime_UTR_variant | MODIFIER | c.*2520dupA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 2521 | INFO_REALIGN_3_PRIME | chr2 | 203219866 | ||||
| chr2:203219883
|
T | G | 2 | a0006c0011t0017a0020c0017t0017 | 2 | HG03225.hp2 HG03453.hp2 |
3_prime_UTR_variant | MODIFIER | c.*2529T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 2529 | chr2 | 203219883 | |||||
| chr2:203219969
|
T | C | 71 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(68): Show | 291 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(288): Show |
3_prime_UTR_variant | MODIFIER | c.*2615T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 2615 | chr2 | 203219969 | |||||
| chr2:203220054
|
A | G | 59 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(56): Show | 254 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(251): Show |
3_prime_UTR_variant | MODIFIER | c.*2700A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 2700 | chr2 | 203220054 | |||||
| chr2:203220156
|
A | G | 1 | a0018c0018t0022 | 1 | HG02109.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2802A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 2802 | chr2 | 203220156 | |||||
| chr2:203220221
|
C | T | 4 | a0001c0001t0014a0001c0001t0041a0001c0009t0007others(1): Show | 7 | HG02109.hp2 HG02451.hp1 HG02486.hp2 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*2867C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 2867 | chr2 | 203220221 | |||||
| chr2:203220224
|
G | A | 1 | a0006c0011t0045 | 1 | HG03195.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2870G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 2870 | chr2 | 203220224 | |||||
| chr2:203220252
|
G | A | 1 | a0001c0004t0048 | 1 | HG01515.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2898G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 2898 | chr2 | 203220252 | |||||
| chr2:203220442
|
C | T | 1 | a0004c0005t0009 | 3 | HG00673.hp1 NA18965.hp1 NA18977.hp2 |
3_prime_UTR_variant | MODIFIER | c.*3088C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 3088 | chr2 | 203220442 | |||||
| chr2:203220764
|
C | G | 1 | a0001c0001t0013 | 2 | HG02896.hp1 HG02897.hp1 |
3_prime_UTR_variant | MODIFIER | c.*3410C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 3410 | chr2 | 203220764 | |||||
| chr2:203220768
|
G | A | 1 | a0003c0003t0010 | 2 | HG02895.hp1 HG02897.hp2 |
3_prime_UTR_variant | MODIFIER | c.*3414G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 3414 | chr2 | 203220768 | |||||
| chr2:203220912
|
C | T | 25 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(22): Show | 121 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(118): Show |
3_prime_UTR_variant | MODIFIER | c.*3558C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 3558 | chr2 | 203220912 | |||||
| chr2:203220972
|
G | A | 1 | a0018c0018t0022 | 1 | HG02109.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3618G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 3618 | chr2 | 203220972 | |||||
| chr2:203221188
|
G | A | 1 | a0001c0001t0031 | 1 | NA19066.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3834G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 3834 | chr2 | 203221188 | |||||
| chr2:203221373
|
A | G | 1 | a0001c0001t0040 | 1 | HG02135.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4019A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 4019 | chr2 | 203221373 | |||||
| chr2:203221398
|
T | C | 2 | a0001c0001t0020a0001c0001t0032 | 2 | NA18981.hp2 NA18983.hp1 |
3_prime_UTR_variant | MODIFIER | c.*4044T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 4044 | chr2 | 203221398 | |||||
| chr2:203221401
|
G | T | 1 | a0001c0001t0029 | 1 | HG03579.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4047G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 4047 | chr2 | 203221401 | |||||
| chr2:203221489
|
A | G | 1 | a0011c0029t0028 | 1 | NA19077.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4135A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 4135 | chr2 | 203221489 | |||||
| chr2:203221501
|
C | T | 1 | a0002c0002t0027 | 1 | HG03239.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4147C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 4147 | chr2 | 203221501 | |||||
| chr2:203221606
|
C | A | 1 | a0003c0012t0011 | 2 | HG02559.hp2 NA19043.hp1 |
3_prime_UTR_variant | MODIFIER | c.*4252C>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 4252 | chr2 | 203221606 | |||||
| chr2:203221864
|
T | C | 1 | a0007c0010t0012 | 2 | HG01515.hp1 HG01517.hp2 |
3_prime_UTR_variant | MODIFIER | c.*4510T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 4510 | chr2 | 203221864 | |||||
| chr2:203222136
|
G | A | 31 | a0001c0001t0002a0001c0001t0004a0001c0001t0014others(28): Show | 130 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(127): Show |
3_prime_UTR_variant | MODIFIER | c.*4782G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 4782 | chr2 | 203222136 | |||||
| chr2:203222255
|
A | G | 1 | a0001c0001t0033 | 1 | NA19030.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4901A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 4901 | chr2 | 203222255 | |||||
| chr2:203222290
|
T | A | 1 | a0001c0001t0023 | 1 | HG01884.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4936T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 4936 | chr2 | 203222290 | |||||
| chr2:203222314
|
A | G | 56 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(53): Show | 251 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(248): Show |
3_prime_UTR_variant | MODIFIER | c.*4960A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 4960 | chr2 | 203222314 | |||||
| chr2:203222366
|
A | G | 2 | a0006c0011t0017a0020c0017t0017 | 2 | HG03225.hp2 HG03453.hp2 |
3_prime_UTR_variant | MODIFIER | c.*5012A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 5012 | chr2 | 203222366 | |||||
| chr2:203222456
|
G | A | 1 | a0001c0001t0036 | 1 | HG00609.hp2 | 3_prime_UTR_variant | MODIFIER | c.*5102G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 5102 | chr2 | 203222456 | |||||
| chr2:203222747
|
AC | A | 3 | a0001c0001t0006a0001c0001t0037a0012c0028t0042 | 9 | HG00642.hp1 HG01255.hp1 HG01358.hp1 others(6): Show |
3_prime_UTR_variant | MODIFIER | c.*5394delC | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 5394 | chr2 | 203222747 | |||||
| chr2:203223051
|
T | C | 1 | a0001c0001t0019 | 2 | NA18952.hp2 NA18966.hp1 |
3_prime_UTR_variant | MODIFIER | c.*5697T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 5697 | chr2 | 203223051 | |||||
| chr2:203223057
|
T | C | 1 | a0007c0010t0012 | 2 | HG01515.hp1 HG01517.hp2 |
3_prime_UTR_variant | MODIFIER | c.*5703T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 5703 | chr2 | 203223057 | |||||
| chr2:203223239
|
A | T | 1 | a0001c0001t0041 | 1 | HG02451.hp1 | 3_prime_UTR_variant | MODIFIER | c.*5885A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 5885 | chr2 | 203223239 | |||||
| chr2:203223500
|
G | T | 2 | a0006c0011t0017a0020c0017t0017 | 2 | HG03225.hp2 HG03453.hp2 |
3_prime_UTR_variant | MODIFIER | c.*6146G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 6146 | chr2 | 203223500 | |||||
| chr2:203223615
|
A | T | 1 | a0002c0002t0026 | 1 | HG01943.hp2 | 3_prime_UTR_variant | MODIFIER | c.*6261A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 6261 | chr2 | 203223615 | |||||
| chr2:203223799
|
G | A | 19 | a0001c0001t0002a0001c0001t0015a0001c0001t0016others(16): Show | 97 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(94): Show |
3_prime_UTR_variant | MODIFIER | c.*6445G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 6445 | chr2 | 203223799 | |||||
| chr2:203223986
|
A | G | 1 | a0001c0001t0039 | 1 | HG00597.hp2 | 3_prime_UTR_variant | MODIFIER | c.*6632A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 6632 | chr2 | 203223986 | |||||
| chr2:203224336
|
T | C | 1 | a0001c0001t0023 | 1 | HG01884.hp2 | 3_prime_UTR_variant | MODIFIER | c.*6982T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 6982 | chr2 | 203224336 | |||||
| chr2:203224588
|
C | T | 1 | a0001c0001t0037 | 1 | HG03710.hp2 | 3_prime_UTR_variant | MODIFIER | c.*7234C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 7234 | chr2 | 203224588 | |||||
| chr2:203224663
|
G | C | 1 | a0001c0001t0014 | 2 | HG02486.hp2 HG02970.hp2 |
3_prime_UTR_variant | MODIFIER | c.*7309G>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 7309 | chr2 | 203224663 | |||||
| chr2:203224807
|
C | T | 1 | a0002c0002t0025 | 1 | HG03139.hp2 | 3_prime_UTR_variant | MODIFIER | c.*7453C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 7453 | chr2 | 203224807 | |||||
| chr2:203225007
|
G | A | 4 | a0001c0001t0014a0001c0001t0041a0001c0009t0007others(1): Show | 7 | HG02109.hp2 HG02451.hp1 HG02486.hp2 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*7653G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 7653 | chr2 | 203225007 | |||||
| chr2:203225093
|
T | G | 1 | a0002c0002t0008 | 3 | HG02293.hp1 HG02886.hp1 NA21309.hp1 |
3_prime_UTR_variant | MODIFIER | c.*7739T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 7739 | chr2 | 203225093 | |||||
| chr2:203225191
|
T | C | 1 | a0001c0001t0038 | 1 | HG00544.hp2 | 3_prime_UTR_variant | MODIFIER | c.*7837T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 56/56 | 7837 | chr2 | 203225191 |
| chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:203015238
|
T | G | 15 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(12): Show | 15 | HG00408.hp2 HG00544.hp2 HG01257.hp2 others(12): Show |
intron_variant | MODIFIER | c.-230+256T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 1/55 | chr2 | 203015238 | ||||||
| chr2:203015283
|
G | A | 1 | a0001c0001t0001g0001 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.-230+301G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 1/55 | chr2 | 203015283 | ||||||
| chr2:203015283
|
G | C | 1 | a0001c0001t0024g0016 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.-230+301G>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 1/55 | chr2 | 203015283 | ||||||
| chr2:203015512
|
G | C | 2 | a0006c0011t0017g0018a0020c0017t0017g0017 | 2 | HG03225.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.-230+530G>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 1/55 | chr2 | 203015512 | ||||||
| chr2:203015587
|
A | G | 3 | a0001c0001t0002g0290a0001c0001t0002g0291a0001c0001t0002g0292 | 3 | HG01361.hp2 HG02273.hp1 HG02300.hp1 |
intron_variant | MODIFIER | c.-229-569A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 1/55 | chr2 | 203015587 | ||||||
| chr2:203015690
|
C | T | 2 | a0001c0001t0001g0288a0001c0001t0001g0289 | 2 | HG02165.hp2 NA18994.hp2 |
intron_variant | MODIFIER | c.-229-466C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 1/55 | chr2 | 203015690 | ||||||
| chr2:203016101
|
A | G | 1 | a0001c0001t0001g0287 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.-229-55A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 1/55 | chr2 | 203016101 | ||||||
| chr2:203016111
|
G | A | 278 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(275): Show | 278 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(275): Show |
intron_variant | MODIFIER | c.-229-45G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 1/55 | chr2 | 203016111 | ||||||
| chr2:203016775
|
G | A | 2 | a0001c0001t0001g0020a0001c0001t0014g0019 | 2 | HG02486.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.51+340G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203016775 | ||||||
| chr2:203016863
|
G | A | 2 | a0001c0001t0001g0020a0001c0001t0014g0019 | 2 | HG02486.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.51+428G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203016863 | ||||||
| chr2:203017070
|
T | C | 1 | a0002c0002t0003g0021 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.51+635T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203017070 | ||||||
| chr2:203017229
|
A | G | 1 | a0001c0001t0037g0272 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.51+794A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203017229 | ||||||
| chr2:203017525
|
A | C | 2 | a0001c0001t0001g0014a0001c0001t0001g0015 | 2 | NA18981.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.51+1090A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203017525 | ||||||
| chr2:203017835
|
C | T | 91 | a0001c0001t0001g0185a0001c0001t0001g0186a0001c0001t0001g0188others(88): Show | 91 | HG00323.hp2 HG00423.hp2 HG00597.hp2 others(88): Show |
intron_variant | MODIFIER | c.51+1400C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203017835 | ||||||
| chr2:203017870
|
A | C | 92 | a0001c0001t0001g0177a0001c0001t0002g0097a0001c0001t0002g0098others(89): Show | 92 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(89): Show |
intron_variant | MODIFIER | c.51+1435A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203017870 | ||||||
| chr2:203017975
|
C | A | 253 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(250): Show | 253 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(250): Show |
intron_variant | MODIFIER | c.51+1540C>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203017975 | ||||||
| chr2:203018272
|
C | CT | 250 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(247): Show | 250 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(247): Show |
intron_variant | MODIFIER | c.51+1847dupT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | 203018272 | |||||
| chr2:203018401
|
G | T | 1 | a0011c0029t0028g0095 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.51+1966G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203018401 | ||||||
| chr2:203018433
|
C | T | 2 | a0001c0001t0002g0183a0001c0001t0002g0184 | 2 | HG00642.hp2 HG01192.hp2 |
intron_variant | MODIFIER | c.51+1998C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203018433 | ||||||
| chr2:203018447
|
A | AC | 136 | a0001c0001t0001g0177a0001c0001t0002g0097a0001c0001t0002g0098others(133): Show | 136 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(133): Show |
intron_variant | MODIFIER | c.51+2013dupC | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | 203018447 | |||||
| chr2:203018470
|
C | G | 13 | a0001c0001t0005g0277a0001c0001t0005g0283a0001c0001t0019g0279others(10): Show | 13 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.51+2035C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203018470 | ||||||
| chr2:203018943
|
T | A | 22 | a0003c0003t0004g0024a0003c0003t0004g0026a0003c0003t0004g0027others(19): Show | 22 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(19): Show |
intron_variant | MODIFIER | c.51+2508T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203018943 | ||||||
| chr2:203018972
|
C | T | 100 | a0001c0001t0001g0177a0001c0001t0002g0097a0001c0001t0002g0098others(97): Show | 100 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(97): Show |
intron_variant | MODIFIER | c.51+2537C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203018972 | ||||||
| chr2:203019176
|
C | G | 1 | a0001c0001t0006g0271 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.51+2741C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203019176 | ||||||
| chr2:203019266
|
A | G | 1 | a0018c0018t0022g0022 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.51+2831A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203019266 | ||||||
| chr2:203019320
|
C | G | 1 | a0001c0001t0002g0182 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.51+2885C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203019320 | ||||||
| chr2:203019517
|
C | T | 2 | a0001c0001t0001g0269a0001c0001t0001g0270 | 2 | HG03490.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.51+3082C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203019517 | ||||||
| chr2:203019550
|
CACCTTGG others(14): Show |
C | 1 | a0002c0002t0026g0094 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.51+3118_51+3138del others(21): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | 203019550 | |||||
| chr2:203019585
|
A | C | 14 | a0001c0001t0005g0277a0001c0001t0005g0283a0001c0001t0019g0279others(11): Show | 14 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(11): Show |
intron_variant | MODIFIER | c.51+3150A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203019585 | ||||||
| chr2:203019632
|
A | G | 1 | a0004c0005t0009g0181 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.51+3197A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203019632 | ||||||
| chr2:203019722
|
A | G | 1 | a0001c0019t0030g0180 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.51+3287A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203019722 | ||||||
| chr2:203019927
|
G | A | 111 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(108): Show | 111 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(108): Show |
intron_variant | MODIFIER | c.51+3492G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203019927 | ||||||
| chr2:203019995
|
T | C | 1 | a0001c0001t0002g0097 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.51+3560T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203019995 | ||||||
| chr2:203020006
|
GATAATTT others(10): Show |
G | 1 | a0001c0001t0001g0268 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.51+3589_51+3605del others(17): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | 203020006 | |||||
| chr2:203020020
|
A | ATAAT | 14 | a0001c0001t0005g0277a0001c0001t0005g0283a0001c0001t0019g0279others(11): Show | 14 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(11): Show |
intron_variant | MODIFIER | c.51+3588_51+3589ins others(4): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | 203020020 | |||||
| chr2:203020232
|
A | T | 1 | a0002c0002t0003g0050 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.51+3797A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203020232 | ||||||
| chr2:203020452
|
T | G | 1 | a0001c0001t0034g0058 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.51+4017T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203020452 | ||||||
| chr2:203020619
|
C | T | 2 | a0006c0011t0017g0018a0020c0017t0017g0017 | 2 | HG03225.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.51+4184C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203020619 | ||||||
| chr2:203020670
|
C | CA | 10 | a0001c0001t0001g0185a0001c0001t0001g0186a0001c0001t0001g0188others(7): Show | 10 | HG00438.hp2 HG00735.hp2 HG01361.hp2 others(7): Show |
intron_variant | MODIFIER | c.51+4252dupA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | 203020670 | |||||
| chr2:203020670
|
CA | C | 6 | a0001c0001t0001g0267a0001c0001t0002g0178a0001c0004t0048g0285others(3): Show | 6 | HG01256.hp1 HG01515.hp2 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.51+4252delA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | 203020670 | |||||
| chr2:203021095
|
T | G | 2 | a0007c0010t0012g0101a0007c0010t0012g0102 | 2 | HG01515.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.51+4660T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203021095 | ||||||
| chr2:203021219
|
C | T | 5 | a0002c0002t0003g0046a0002c0002t0003g0048a0002c0002t0003g0049others(2): Show | 5 | HG02145.hp2 HG02451.hp2 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.51+4784C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203021219 | ||||||
| chr2:203021519
|
C | T | 1 | a0003c0012t0011g0043 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.51+5084C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203021519 | ||||||
| chr2:203021617
|
A | G | 1 | a0001c0001t0001g0289 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.51+5182A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203021617 | ||||||
| chr2:203021876
|
C | T | 1 | a0001c0001t0001g0266 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.51+5441C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203021876 | ||||||
| chr2:203022060
|
A | G | 2 | a0001c0009t0007g0056a0001c0009t0007g0057 | 2 | HG03139.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.51+5625A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203022060 | ||||||
| chr2:203022071
|
A | G | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.51+5636A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203022071 | ||||||
| chr2:203022382
|
A | T | 1 | a0001c0001t0001g0013 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.51+5947A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203022382 | ||||||
| chr2:203022565
|
C | T | 1 | a0001c0004t0005g0284 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.51+6130C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203022565 | ||||||
| chr2:203022760
|
A | G | 1 | a0001c0001t0005g0283 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.51+6325A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203022760 | ||||||
| chr2:203022955
|
G | T | 1 | a0003c0003t0004g0042 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.51+6520G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203022955 | ||||||
| chr2:203023115
|
G | T | 1 | a0001c0001t0001g0020 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.51+6680G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203023115 | ||||||
| chr2:203023165
|
A | C | 15 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(12): Show | 15 | HG00408.hp2 HG00544.hp2 HG01257.hp2 others(12): Show |
intron_variant | MODIFIER | c.51+6730A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203023165 | ||||||
| chr2:203023414
|
C | G | 1 | a0002c0002t0003g0049 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.51+6979C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203023414 | ||||||
| chr2:203023457
|
G | A | 1 | a0001c0007t0002g0059 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.51+7022G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203023457 | ||||||
| chr2:203023632
|
C | CA | 15 | a0001c0001t0002g0103a0001c0001t0005g0277a0001c0001t0005g0283others(12): Show | 15 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(12): Show |
intron_variant | MODIFIER | c.51+7206dupA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | 203023632 | |||||
| chr2:203023892
|
A | C | 4 | a0001c0007t0002g0059a0001c0007t0002g0090a0001c0007t0002g0091others(1): Show | 4 | HG02145.hp1 HG02257.hp1 HG02622.hp1 others(1): Show |
intron_variant | MODIFIER | c.51+7457A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203023892 | ||||||
| chr2:203023985
|
T | G | 15 | a0002c0002t0003g0060a0002c0002t0003g0061a0002c0002t0003g0062others(12): Show | 15 | HG00738.hp1 HG01943.hp2 HG01975.hp2 others(12): Show |
intron_variant | MODIFIER | c.51+7550T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203023985 | ||||||
| chr2:203024087
|
T | C | 2 | a0001c0001t0001g0020a0001c0001t0014g0019 | 2 | HG02486.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.51+7652T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203024087 | ||||||
| chr2:203024135
|
A | G | 111 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(108): Show | 111 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(108): Show |
intron_variant | MODIFIER | c.51+7700A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203024135 | ||||||
| chr2:203024185
|
G | A | 1 | a0001c0001t0002g0104 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.51+7750G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203024185 | ||||||
| chr2:203024201
|
A | C | 2 | a0001c0001t0001g0177a0001c0001t0001g0265 | 2 | NA18983.hp2 NA18984.hp1 |
intron_variant | MODIFIER | c.51+7766A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203024201 | ||||||
| chr2:203024204
|
A | T | 2 | a0003c0003t0010g0041a0003c0003t0010g0044 | 2 | HG02895.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.51+7769A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203024204 | ||||||
| chr2:203024551
|
C | CA | 96 | a0001c0001t0001g0177a0001c0001t0001g0189a0001c0001t0002g0097others(93): Show | 96 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(93): Show |
intron_variant | MODIFIER | c.51+8129dupA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | 203024551 | |||||
| chr2:203024557
|
A | G | 7 | a0001c0001t0001g0188a0001c0001t0001g0261a0001c0001t0001g0262others(4): Show | 7 | HG02486.hp2 HG02630.hp2 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.51+8122A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203024557 | ||||||
| chr2:203024707
|
C | T | 1 | a0001c0001t0001g0267 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.51+8272C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203024707 | ||||||
| chr2:203024801
|
G | A | 1 | a0016c0022t0001g0190 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.51+8366G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203024801 | ||||||
| chr2:203024879
|
A | C | 9 | a0001c0001t0002g0172a0001c0001t0023g0045a0004c0005t0002g0171others(6): Show | 9 | HG00597.hp1 HG00673.hp1 HG01884.hp2 others(6): Show |
intron_variant | MODIFIER | c.51+8444A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203024879 | ||||||
| chr2:203024908
|
C | T | 2 | a0006c0011t0017g0018a0020c0017t0017g0017 | 2 | HG03225.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.51+8473C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203024908 | ||||||
| chr2:203024940
|
AAG | A | 5 | a0002c0002t0003g0046a0002c0002t0003g0048a0002c0002t0003g0049others(2): Show | 5 | HG02145.hp2 HG02451.hp2 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.51+8506_51+8507del others(2): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203024940 | ||||||
| chr2:203025269
|
G | A | 25 | a0001c0001t0001g0193a0001c0001t0001g0194a0001c0001t0001g0195others(22): Show | 25 | HG00423.hp2 HG00609.hp2 HG00673.hp2 others(22): Show |
intron_variant | MODIFIER | c.51+8834G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203025269 | ||||||
| chr2:203025270
|
C | T | 1 | a0001c0001t0001g0020 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.51+8835C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203025270 | ||||||
| chr2:203025499
|
G | A | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.51+9064G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203025499 | ||||||
| chr2:203025983
|
G | A | 2 | a0001c0001t0002g0105a0001c0001t0002g0106 | 2 | HG00323.hp1 HG01099.hp2 |
intron_variant | MODIFIER | c.51+9548G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203025983 | ||||||
| chr2:203026452
|
G | T | 1 | a0001c0001t0006g0259 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.51+10017G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203026452 | ||||||
| chr2:203026506
|
A | AT | 16 | a0001c0001t0002g0089a0001c0001t0005g0277a0001c0001t0005g0283others(13): Show | 16 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(13): Show |
intron_variant | MODIFIER | c.51+10087dupT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | 203026506 | |||||
| chr2:203026721
|
G | A | 1 | a0002c0002t0003g0060 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.51+10286G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203026721 | ||||||
| chr2:203027164
|
A | G | 3 | a0001c0009t0007g0055a0001c0009t0007g0056a0001c0009t0007g0057 | 3 | HG02976.hp1 HG03139.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.51+10729A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203027164 | ||||||
| chr2:203027532
|
C | T | 2 | a0001c0001t0001g0263a0001c0001t0001g0264 | 2 | HG02630.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.51+11097C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203027532 | ||||||
| chr2:203027647
|
A | G | 2 | a0001c0001t0001g0020a0001c0001t0014g0019 | 2 | HG02486.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.51+11212A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203027647 | ||||||
| chr2:203027915
|
C | T | 1 | a0002c0002t0003g0060 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.51+11480C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203027915 | ||||||
| chr2:203027916
|
G | A | 5 | a0002c0002t0003g0046a0002c0002t0003g0048a0002c0002t0003g0049others(2): Show | 5 | HG02145.hp2 HG02451.hp2 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.51+11481G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203027916 | ||||||
| chr2:203028044
|
T | C | 14 | a0001c0001t0005g0277a0001c0001t0005g0283a0001c0001t0019g0279others(11): Show | 14 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(11): Show |
intron_variant | MODIFIER | c.51+11609T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203028044 | ||||||
| chr2:203028233
|
A | G | 252 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(249): Show | 252 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(249): Show |
intron_variant | MODIFIER | c.51+11798A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203028233 | ||||||
| chr2:203028268
|
C | T | 22 | a0003c0003t0004g0024a0003c0003t0004g0026a0003c0003t0004g0027others(19): Show | 22 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(19): Show |
intron_variant | MODIFIER | c.51+11833C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203028268 | ||||||
| chr2:203028335
|
T | A | 5 | a0002c0002t0003g0046a0002c0002t0003g0048a0002c0002t0003g0049others(2): Show | 5 | HG02145.hp2 HG02451.hp2 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.51+11900T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203028335 | ||||||
| chr2:203028336
|
A | T | 5 | a0002c0002t0003g0046a0002c0002t0003g0048a0002c0002t0003g0049others(2): Show | 5 | HG02145.hp2 HG02451.hp2 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.51+11901A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203028336 | ||||||
| chr2:203028432
|
A | C | 1 | a0001c0001t0001g0258 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.51+11997A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203028432 | ||||||
| chr2:203028471
|
A | G | 1 | a0002c0002t0003g0060 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.51+12036A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203028471 | ||||||
| chr2:203028588
|
T | C | 2 | a0001c0001t0001g0051a0001c0001t0001g0052 | 2 | HG02258.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.51+12153T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203028588 | ||||||
| chr2:203028752
|
G | A | 2 | a0002c0014t0003g0076a0019c0013t0003g0077 | 2 | HG03130.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.51+12317G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203028752 | ||||||
| chr2:203028756
|
T | C | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.51+12321T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203028756 | ||||||
| chr2:203028927
|
C | T | 3 | a0001c0009t0007g0055a0001c0009t0007g0056a0001c0009t0007g0057 | 3 | HG02976.hp1 HG03139.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.51+12492C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203028927 | ||||||
| chr2:203029269
|
C | T | 18 | a0003c0003t0004g0026a0003c0003t0004g0027a0003c0003t0004g0028others(15): Show | 18 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(15): Show |
intron_variant | MODIFIER | c.52-12496C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203029269 | ||||||
| chr2:203029276
|
C | A | 14 | a0001c0001t0005g0277a0001c0001t0005g0283a0001c0001t0019g0279others(11): Show | 14 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(11): Show |
intron_variant | MODIFIER | c.52-12489C>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203029276 | ||||||
| chr2:203029504
|
G | A | 108 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(105): Show | 108 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(105): Show |
intron_variant | MODIFIER | c.52-12261G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203029504 | ||||||
| chr2:203029691
|
C | CA | 120 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(117): Show | 120 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(117): Show |
intron_variant | MODIFIER | c.52-12058dupA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | 203029691 | |||||
| chr2:203029691
|
C | CAA | 6 | a0001c0001t0001g0003a0001c0001t0001g0013a0001c0001t0001g0051others(3): Show | 6 | HG00544.hp2 HG01175.hp1 HG01192.hp1 others(3): Show |
intron_variant | MODIFIER | c.52-12059_52-12058d others(4): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | 203029691 | |||||
| chr2:203029698
|
A | C | 1 | a0001c0001t0002g0089 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.52-12067A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203029698 | ||||||
| chr2:203029991
|
G | A | 4 | a0001c0007t0002g0059a0001c0007t0002g0090a0001c0007t0002g0091others(1): Show | 4 | HG02145.hp1 HG02257.hp1 HG02622.hp1 others(1): Show |
intron_variant | MODIFIER | c.52-11774G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203029991 | ||||||
| chr2:203030526
|
G | A | 3 | a0002c0002t0003g0046a0002c0002t0003g0049a0002c0002t0003g0050 | 3 | HG02451.hp2 HG02717.hp1 HG02895.hp2 |
intron_variant | MODIFIER | c.52-11239G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203030526 | ||||||
| chr2:203030612
|
A | G | 1 | a0001c0001t0035g0256 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.52-11153A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203030612 | ||||||
| chr2:203030811
|
G | A | 1 | a0018c0018t0022g0022 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.52-10954G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203030811 | ||||||
| chr2:203031083
|
T | G | 1 | a0001c0001t0002g0079 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.52-10682T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203031083 | ||||||
| chr2:203031342
|
T | C | 22 | a0003c0003t0004g0024a0003c0003t0004g0026a0003c0003t0004g0027others(19): Show | 22 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(19): Show |
intron_variant | MODIFIER | c.52-10423T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203031342 | ||||||
| chr2:203031350
|
G | A | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.52-10415G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203031350 | ||||||
| chr2:203031628
|
C | A | 1 | a0001c0001t0041g0054 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.52-10137C>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203031628 | ||||||
| chr2:203031697
|
G | A | 1 | a0001c0001t0024g0016 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.52-10068G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203031697 | ||||||
| chr2:203031934
|
G | T | 15 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(12): Show | 15 | HG00408.hp2 HG00544.hp2 HG01257.hp2 others(12): Show |
intron_variant | MODIFIER | c.52-9831G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203031934 | ||||||
| chr2:203032043
|
C | T | 3 | a0001c0001t0002g0167a0001c0001t0002g0168a0001c0023t0002g0169 | 3 | HG01167.hp2 HG01169.hp2 HG01358.hp2 |
intron_variant | MODIFIER | c.52-9722C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203032043 | ||||||
| chr2:203032054
|
A | G | 1 | a0001c0001t0041g0054 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.52-9711A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203032054 | ||||||
| chr2:203032386
|
G | C | 1 | a0003c0012t0011g0043 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.52-9379G>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203032386 | ||||||
| chr2:203032614
|
C | G | 1 | a0001c0001t0001g0255 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.52-9151C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203032614 | ||||||
| chr2:203032614
|
C | T | 1 | a0013c0027t0007g0053 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.52-9151C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203032614 | ||||||
| chr2:203032660
|
C | CT | 175 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(172): Show | 175 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(172): Show |
intron_variant | MODIFIER | c.52-9080dupT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | 203032660 | |||||
| chr2:203032660
|
C | CTT | 34 | a0001c0001t0001g0208a0001c0001t0001g0209a0001c0001t0001g0210others(31): Show | 34 | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(31): Show |
intron_variant | MODIFIER | c.52-9081_52-9080dup others(2): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | 203032660 | |||||
| chr2:203032661
|
T | C | 1 | a0001c0004t0005g0273 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.52-9104T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203032661 | ||||||
| chr2:203032881
|
T | C | 1 | a0013c0027t0007g0053 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.52-8884T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203032881 | ||||||
| chr2:203033006
|
A | T | 5 | a0002c0002t0003g0046a0002c0002t0003g0048a0002c0002t0003g0049others(2): Show | 5 | HG02145.hp2 HG02451.hp2 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.52-8759A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203033006 | ||||||
| chr2:203033031
|
C | T | 1 | a0001c0019t0030g0180 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.52-8734C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203033031 | ||||||
| chr2:203033040
|
G | A | 5 | a0001c0001t0001g0215a0001c0001t0001g0216a0001c0001t0001g0217others(2): Show | 5 | HG02572.hp2 HG02723.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.52-8725G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203033040 | ||||||
| chr2:203033063
|
C | T | 1 | a0020c0017t0017g0017 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.52-8702C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203033063 | ||||||
| chr2:203033149
|
C | T | 1 | a0001c0001t0006g0254 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.52-8616C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203033149 | ||||||
| chr2:203033154
|
C | A | 1 | a0011c0029t0028g0095 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.52-8611C>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203033154 | ||||||
| chr2:203033217
|
G | T | 5 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(2): Show | 5 | HG01257.hp1 HG01952.hp1 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.52-8548G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203033217 | ||||||
| chr2:203033223
|
A | G | 13 | a0001c0001t0005g0277a0001c0001t0005g0283a0001c0001t0019g0279others(10): Show | 13 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.52-8542A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203033223 | ||||||
| chr2:203033371
|
A | G | 2 | a0006c0011t0017g0018a0020c0017t0017g0017 | 2 | HG03225.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.52-8394A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203033371 | ||||||
| chr2:203033596
|
A | G | 2 | a0001c0001t0002g0183a0001c0001t0002g0184 | 2 | HG00642.hp2 HG01192.hp2 |
intron_variant | MODIFIER | c.52-8169A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203033596 | ||||||
| chr2:203033604
|
T | C | 1 | a0006c0011t0045g0023 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.52-8161T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203033604 | ||||||
| chr2:203033708
|
A | G | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.52-8057A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203033708 | ||||||
| chr2:203033807
|
T | C | 9 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(6): Show | 9 | HG01257.hp1 HG01952.hp1 HG02293.hp1 others(6): Show |
intron_variant | MODIFIER | c.52-7958T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203033807 | ||||||
| chr2:203033958
|
C | A | 1 | a0016c0022t0001g0190 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.52-7807C>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203033958 | ||||||
| chr2:203033958
|
C | T | 1 | a0001c0001t0001g0253 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.52-7807C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203033958 | ||||||
| chr2:203034159
|
CT | C | 10 | a0001c0001t0001g0014a0001c0001t0001g0213a0001c0001t0001g0220others(7): Show | 10 | HG01081.hp1 HG01943.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.52-7589delT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | 203034159 | |||||
| chr2:203034248
|
C | T | 1 | a0018c0018t0022g0022 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.52-7517C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203034248 | ||||||
| chr2:203034348
|
AGGGTTTC others(5228): Show |
A | 13 | a0001c0001t0005g0277a0001c0001t0005g0283a0001c0001t0019g0279others(10): Show | 13 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.52-7409_52-2175del | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | 203034348 | |||||
| chr2:203034435
|
G | C | 22 | a0003c0003t0004g0024a0003c0003t0004g0026a0003c0003t0004g0027others(19): Show | 22 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(19): Show |
intron_variant | MODIFIER | c.52-7330G>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203034435 | ||||||
| chr2:203034457
|
A | AT | 14 | a0001c0001t0001g0213a0001c0001t0001g0262a0001c0001t0002g0079others(11): Show | 14 | HG01109.hp2 HG01884.hp2 HG01952.hp1 others(11): Show |
intron_variant | MODIFIER | c.52-7290dupT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | 203034457 | |||||
| chr2:203034457
|
AT | A | 8 | a0001c0001t0001g0014a0001c0001t0001g0212a0001c0001t0001g0221others(5): Show | 8 | HG00323.hp1 HG00323.hp2 HG01168.hp2 others(5): Show |
intron_variant | MODIFIER | c.52-7290delT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | 203034457 | |||||
| chr2:203034541
|
C | T | 5 | a0002c0002t0003g0046a0002c0002t0003g0048a0002c0002t0003g0049others(2): Show | 5 | HG02145.hp2 HG02451.hp2 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.52-7224C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203034541 | ||||||
| chr2:203034850
|
T | TG | 11 | a0002c0002t0003g0060a0002c0002t0003g0065a0002c0002t0003g0066others(8): Show | 11 | HG00738.hp1 HG01943.hp2 HG02129.hp1 others(8): Show |
intron_variant | MODIFIER | c.52-6909dupG | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | 203034850 | |||||
| chr2:203035109
|
A | G | 2 | a0001c0001t0001g0205a0001c0001t0001g0206 | 2 | NA18999.hp1 NA19057.hp2 |
intron_variant | MODIFIER | c.52-6656A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203035109 | ||||||
| chr2:203035193
|
A | T | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.52-6572A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203035193 | ||||||
| chr2:203035235
|
A | C | 1 | a0001c0030t0049g0247 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.52-6530A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203035235 | ||||||
| chr2:203035656
|
G | C | 1 | a0001c0001t0039g0223 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.52-6109G>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203035656 | ||||||
| chr2:203035824
|
C | T | 1 | a0022c0032t0001g0246 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.52-5941C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203035824 | ||||||
| chr2:203036306
|
G | A | 1 | a0004c0005t0009g0170 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.52-5459G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203036306 | ||||||
| chr2:203036315
|
G | T | 1 | a0001c0001t0024g0016 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.52-5450G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203036315 | ||||||
| chr2:203036661
|
T | C | 1 | a0013c0027t0007g0053 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.52-5104T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203036661 | ||||||
| chr2:203036695
|
C | G | 100 | a0001c0001t0001g0177a0001c0001t0002g0097a0001c0001t0002g0098others(97): Show | 100 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(97): Show |
intron_variant | MODIFIER | c.52-5070C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203036695 | ||||||
| chr2:203037202
|
T | A | 2 | a0007c0010t0012g0101a0007c0010t0012g0102 | 2 | HG01515.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.52-4563T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203037202 | ||||||
| chr2:203037309
|
A | G | 1 | a0001c0001t0002g0292 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.52-4456A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203037309 | ||||||
| chr2:203037837
|
C | A | 1 | a0001c0001t0035g0256 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.52-3928C>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203037837 | ||||||
| chr2:203038030
|
G | T | 99 | a0001c0001t0002g0097a0001c0001t0002g0098a0001c0001t0002g0099others(96): Show | 99 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(96): Show |
intron_variant | MODIFIER | c.52-3735G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203038030 | ||||||
| chr2:203038124
|
G | A | 2 | a0001c0001t0001g0051a0001c0001t0001g0052 | 2 | HG02258.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.52-3641G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203038124 | ||||||
| chr2:203038408
|
T | C | 2 | a0001c0001t0001g0213a0001c0001t0001g0224 | 2 | NA18974.hp2 NA19063.hp1 |
intron_variant | MODIFIER | c.52-3357T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203038408 | ||||||
| chr2:203038500
|
C | A | 93 | a0001c0001t0001g0051a0001c0001t0001g0052a0001c0001t0001g0177others(90): Show | 93 | HG00323.hp2 HG00423.hp2 HG00597.hp2 others(90): Show |
intron_variant | MODIFIER | c.52-3265C>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203038500 | ||||||
| chr2:203038640
|
T | C | 1 | a0002c0002t0003g0061 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.52-3125T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203038640 | ||||||
| chr2:203038880
|
A | G | 91 | a0001c0001t0002g0097a0001c0001t0002g0098a0001c0001t0002g0099others(88): Show | 91 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(88): Show |
intron_variant | MODIFIER | c.52-2885A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203038880 | ||||||
| chr2:203039184
|
CCTTTT | C | 10 | a0001c0001t0002g0108a0001c0001t0002g0157a0001c0001t0002g0158others(7): Show | 10 | HG00642.hp2 HG01167.hp2 HG01169.hp2 others(7): Show |
intron_variant | MODIFIER | c.52-2576_52-2572del others(5): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | 203039184 | |||||
| chr2:203039189
|
T | C | 87 | a0001c0001t0002g0097a0001c0001t0002g0098a0001c0001t0002g0099others(84): Show | 87 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(84): Show |
intron_variant | MODIFIER | c.52-2576T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203039189 | ||||||
| chr2:203039194
|
C | T | 87 | a0001c0001t0002g0097a0001c0001t0002g0098a0001c0001t0002g0099others(84): Show | 87 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(84): Show |
intron_variant | MODIFIER | c.52-2571C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203039194 | ||||||
| chr2:203039199
|
C | T | 10 | a0001c0001t0002g0108a0001c0001t0002g0157a0001c0001t0002g0158others(7): Show | 10 | HG00642.hp2 HG01167.hp2 HG01169.hp2 others(7): Show |
intron_variant | MODIFIER | c.52-2566C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203039199 | ||||||
| chr2:203039211
|
TTTCCTTT others(3): Show |
T | 1 | a0001c0001t0036g0207 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.52-2549_52-2540del others(10): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | 203039211 | |||||
| chr2:203039211
|
TTTCCTTT others(8): Show |
T | 1 | a0001c0024t0001g0005 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.52-2549_52-2535del others(15): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | 203039211 | |||||
| chr2:203039211
|
TTTCCTTT others(18): Show |
T | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.52-2549_52-2525del others(25): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | 203039211 | |||||
| chr2:203039216
|
T | C | 2 | a0001c0001t0002g0153a0002c0002t0003g0062 | 2 | NA18948.hp2 NA18982.hp2 |
intron_variant | MODIFIER | c.52-2549T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203039216 | ||||||
| chr2:203039216
|
T | TTTCCC | 38 | a0001c0001t0001g0225a0001c0001t0001g0226a0001c0001t0001g0227others(35): Show | 38 | HG00733.hp1 HG00738.hp1 HG01109.hp1 others(35): Show |
intron_variant | MODIFIER | c.52-2486_52-2482dup others(5): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | 203039216 | |||||
| chr2:203039216
|
T | TTTCCCTT others(3): Show |
16 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(13): Show | 16 | HG01257.hp1 HG01952.hp1 HG02293.hp1 others(13): Show |
intron_variant | MODIFIER | c.52-2491_52-2482dup others(10): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | 203039216 | |||||
| chr2:203039216
|
T | TTTCCCTT others(13): Show |
1 | a0001c0001t0041g0054 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.52-2501_52-2482dup others(20): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | 203039216 | |||||
| chr2:203039216
|
TTTCCC | T | 35 | a0001c0001t0001g0006a0001c0001t0001g0011a0001c0001t0001g0052others(32): Show | 35 | HG00423.hp2 HG00642.hp1 HG01168.hp2 others(32): Show |
intron_variant | MODIFIER | c.52-2486_52-2482del others(5): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | 203039216 | |||||
| chr2:203039216
|
TTTCCCTT others(3): Show |
T | 151 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(148): Show | 151 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(148): Show |
intron_variant | MODIFIER | c.52-2491_52-2482del others(10): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | 203039216 | |||||
| chr2:203039216
|
TTTCCCTT others(8): Show |
T | 7 | a0001c0001t0001g0204a0001c0001t0001g0245a0001c0001t0002g0151others(4): Show | 7 | HG01255.hp2 HG02970.hp2 HG03579.hp1 others(4): Show |
intron_variant | MODIFIER | c.52-2496_52-2482del others(15): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | 203039216 | |||||
| chr2:203039216
|
TTTCCCTT others(13): Show |
T | 5 | a0001c0001t0040g0012a0002c0002t0003g0046a0002c0002t0003g0048others(2): Show | 5 | HG02135.hp1 HG02145.hp2 HG02451.hp2 others(2): Show |
intron_variant | MODIFIER | c.52-2501_52-2482del others(20): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | 203039216 | |||||
| chr2:203039216
|
TTTCCCTT others(18): Show |
T | 1 | a0001c0001t0037g0272 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.52-2506_52-2482del others(25): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | 203039216 | |||||
| chr2:203039221
|
C | T | 10 | a0001c0001t0002g0108a0001c0001t0002g0157a0001c0001t0002g0158others(7): Show | 10 | HG00642.hp2 HG01167.hp2 HG01169.hp2 others(7): Show |
intron_variant | MODIFIER | c.52-2544C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203039221 | ||||||
| chr2:203039226
|
C | T | 3 | a0001c0001t0001g0011a0001c0001t0013g0251a0001c0001t0013g0257 | 3 | HG02083.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.52-2539C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203039226 | ||||||
| chr2:203039285
|
C | T | 3 | a0001c0009t0007g0055a0001c0009t0007g0056a0001c0009t0007g0057 | 3 | HG02976.hp1 HG03139.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.52-2480C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203039285 | ||||||
| chr2:203039306
|
TC | T | 99 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(96): Show | 99 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(96): Show |
intron_variant | MODIFIER | c.52-2455delC | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | 203039306 | |||||
| chr2:203039310
|
C | T | 9 | a0001c0001t0001g0051a0001c0001t0001g0212a0001c0001t0001g0216others(6): Show | 9 | HG00597.hp2 HG01175.hp1 HG02080.hp1 others(6): Show |
intron_variant | MODIFIER | c.52-2455C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203039310 | ||||||
| chr2:203039311
|
T | C | 10 | a0001c0001t0001g0051a0001c0001t0001g0212a0001c0001t0001g0216others(7): Show | 10 | HG00597.hp2 HG01175.hp1 HG02080.hp1 others(7): Show |
intron_variant | MODIFIER | c.52-2454T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203039311 | ||||||
| chr2:203039311
|
T | TC | 36 | a0001c0001t0002g0087a0001c0001t0002g0098a0001c0001t0002g0099others(33): Show | 36 | HG00423.hp1 HG00438.hp2 HG00544.hp1 others(33): Show |
intron_variant | MODIFIER | c.52-2447dupC | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | 203039311 | |||||
| chr2:203039311
|
TC | T | 9 | a0001c0001t0023g0045a0001c0009t0007g0055a0001c0009t0007g0057others(6): Show | 9 | HG01884.hp2 HG02145.hp2 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.52-2447delC | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | 203039311 | |||||
| chr2:203039484
|
A | G | 1 | a0001c0001t0001g0204 | 1 | NA19064.hp1 | intron_variant | MODIFIER | c.52-2281A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203039484 | ||||||
| chr2:203039527
|
C | G | 4 | a0001c0001t0001g0220a0001c0001t0001g0243a0001c0001t0001g0244others(1): Show | 4 | HG01081.hp1 NA18970.hp2 NA18991.hp1 others(1): Show |
intron_variant | MODIFIER | c.52-2238C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203039527 | ||||||
| chr2:203039625
|
C | G | 1 | a0009c0033t0001g0203 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.52-2140C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203039625 | ||||||
| chr2:203039827
|
C | T | 1 | a0006c0011t0045g0023 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.52-1938C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203039827 | ||||||
| chr2:203039940
|
T | A | 2 | a0002c0002t0025g0075a0015c0021t0003g0074 | 2 | HG02257.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.52-1825T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203039940 | ||||||
| chr2:203040351
|
C | G | 6 | a0001c0001t0002g0099a0001c0001t0002g0147a0001c0001t0002g0148others(3): Show | 6 | NA18980.hp1 NA18999.hp2 NA19009.hp1 others(3): Show |
intron_variant | MODIFIER | c.52-1414C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203040351 | ||||||
| chr2:203040353
|
A | G | 1 | a0001c0001t0037g0272 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.52-1412A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203040353 | ||||||
| chr2:203040412
|
C | T | 1 | a0001c0001t0002g0108 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.52-1353C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203040412 | ||||||
| chr2:203040414
|
G | A | 1 | a0001c0001t0001g0235 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.52-1351G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203040414 | ||||||
| chr2:203040452
|
G | T | 251 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(248): Show | 251 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(248): Show |
intron_variant | MODIFIER | c.52-1313G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203040452 | ||||||
| chr2:203040565
|
G | T | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.52-1200G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203040565 | ||||||
| chr2:203040676
|
A | G | 1 | a0001c0001t0002g0154 | 1 | NA19083.hp2 | intron_variant | MODIFIER | c.52-1089A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203040676 | ||||||
| chr2:203040995
|
C | A | 99 | a0001c0001t0002g0097a0001c0001t0002g0098a0001c0001t0002g0099others(96): Show | 99 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(96): Show |
intron_variant | MODIFIER | c.52-770C>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203040995 | ||||||
| chr2:203041240
|
A | G | 3 | a0001c0008t0001g0240a0001c0008t0001g0241a0001c0008t0001g0242 | 3 | NA18951.hp2 NA18968.hp1 NA19010.hp2 |
intron_variant | MODIFIER | c.52-525A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203041240 | ||||||
| chr2:203041425
|
C | G | 2 | a0001c0001t0002g0118a0001c0001t0002g0146 | 2 | HG02602.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.52-340C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | chr2 | 203041425 | ||||||
| chr2:203042091
|
A | T | 1 | a0001c0001t0002g0117 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.143+235A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | chr2 | 203042091 | ||||||
| chr2:203042426
|
C | T | 1 | a0018c0018t0022g0022 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.143+570C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | chr2 | 203042426 | ||||||
| chr2:203042427
|
G | A | 2 | a0001c0001t0002g0089a0016c0022t0001g0190 | 2 | HG01257.hp1 NA18988.hp2 |
intron_variant | MODIFIER | c.143+571G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | chr2 | 203042427 | ||||||
| chr2:203042510
|
A | G | 3 | a0001c0009t0007g0055a0001c0009t0007g0056a0001c0009t0007g0057 | 3 | HG02976.hp1 HG03139.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.143+654A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | chr2 | 203042510 | ||||||
| chr2:203042597
|
T | C | 1 | a0001c0001t0002g0119 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.143+741T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | chr2 | 203042597 | ||||||
| chr2:203042933
|
G | A | 1 | a0002c0002t0003g0021 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.143+1077G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | chr2 | 203042933 | ||||||
| chr2:203043244
|
A | G | 1 | a0001c0001t0001g0202 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.143+1388A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | chr2 | 203043244 | ||||||
| chr2:203043531
|
A | G | 1 | a0001c0001t0001g0010 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.143+1675A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | chr2 | 203043531 | ||||||
| chr2:203043600
|
G | A | 2 | a0001c0001t0001g0020a0001c0001t0014g0019 | 2 | HG02486.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.143+1744G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | chr2 | 203043600 | ||||||
| chr2:203043645
|
A | G | 17 | a0002c0002t0003g0060a0002c0002t0003g0061a0002c0002t0003g0062others(14): Show | 17 | HG00738.hp1 HG01943.hp2 HG01975.hp2 others(14): Show |
intron_variant | MODIFIER | c.143+1789A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | chr2 | 203043645 | ||||||
| chr2:203043728
|
C | CA | 6 | a0001c0001t0001g0189a0001c0001t0001g0249a0001c0001t0002g0147others(3): Show | 6 | HG01255.hp1 NA18949.hp1 NA18949.hp2 others(3): Show |
intron_variant | MODIFIER | c.143+1889dupA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | 203043728 | |||||
| chr2:203043728
|
CA | C | 8 | a0001c0001t0001g0014a0001c0001t0002g0119a0001c0001t0002g0167others(5): Show | 8 | HG00597.hp1 HG01169.hp2 HG02451.hp1 others(5): Show |
intron_variant | MODIFIER | c.143+1889delA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | 203043728 | |||||
| chr2:203043858
|
C | T | 1 | a0001c0001t0002g0156 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.143+2002C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | chr2 | 203043858 | ||||||
| chr2:203044051
|
G | T | 1 | a0001c0001t0041g0054 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.143+2195G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | chr2 | 203044051 | ||||||
| chr2:203044397
|
A | G | 1 | a0001c0001t0002g0119 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.143+2541A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | chr2 | 203044397 | ||||||
| chr2:203044582
|
G | A | 128 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(125): Show | 128 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(125): Show |
intron_variant | MODIFIER | c.143+2726G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | chr2 | 203044582 | ||||||
| chr2:203044694
|
T | G | 4 | a0001c0001t0001g0189a0001c0001t0001g0213a0001c0001t0001g0224others(1): Show | 4 | NA18974.hp2 NA18977.hp1 NA19063.hp1 others(1): Show |
intron_variant | MODIFIER | c.143+2838T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | chr2 | 203044694 | ||||||
| chr2:203045399
|
A | G | 16 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(13): Show | 16 | HG00408.hp2 HG00544.hp2 HG01257.hp2 others(13): Show |
intron_variant | MODIFIER | c.143+3543A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | chr2 | 203045399 | ||||||
| chr2:203045874
|
A | G | 1 | a0001c0001t0002g0158 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.144-3940A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | chr2 | 203045874 | ||||||
| chr2:203046129
|
A | G | 1 | a0018c0018t0022g0022 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.144-3685A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | chr2 | 203046129 | ||||||
| chr2:203046168
|
A | G | 2 | a0001c0001t0002g0097a0001c0001t0002g0178 | 2 | HG02165.hp1 NA18954.hp2 |
intron_variant | MODIFIER | c.144-3646A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | chr2 | 203046168 | ||||||
| chr2:203046208
|
A | ATATT | 99 | a0001c0001t0002g0097a0001c0001t0002g0098a0001c0001t0002g0099others(96): Show | 99 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(96): Show |
intron_variant | MODIFIER | c.144-3584_144-3581d others(6): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | 203046208 | |||||
| chr2:203046262
|
C | T | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.144-3552C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | chr2 | 203046262 | ||||||
| chr2:203046309
|
G | A | 1 | a0001c0001t0002g0172 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.144-3505G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | chr2 | 203046309 | ||||||
| chr2:203046491
|
C | T | 252 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(249): Show | 252 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(249): Show |
intron_variant | MODIFIER | c.144-3323C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | chr2 | 203046491 | ||||||
| chr2:203046549
|
G | A | 1 | a0001c0001t0035g0256 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.144-3265G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | chr2 | 203046549 | ||||||
| chr2:203046870
|
A | C | 1 | a0006c0011t0045g0023 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.144-2944A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | chr2 | 203046870 | ||||||
| chr2:203047004
|
G | A | 1 | a0002c0002t0003g0063 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.144-2810G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | chr2 | 203047004 | ||||||
| chr2:203047110
|
G | A | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.144-2704G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | chr2 | 203047110 | ||||||
| chr2:203047507
|
A | G | 5 | a0001c0001t0001g0215a0001c0001t0001g0216a0001c0001t0001g0217others(2): Show | 5 | HG02572.hp2 HG02723.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.144-2307A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | chr2 | 203047507 | ||||||
| chr2:203047741
|
ATT | A | 152 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(149): Show | 152 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(149): Show |
intron_variant | MODIFIER | c.144-2054_144-2053d others(4): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | 203047741 | |||||
| chr2:203047741
|
ATTT | A | 91 | a0001c0001t0001g0020a0001c0001t0001g0204a0001c0001t0001g0217others(88): Show | 91 | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(88): Show |
intron_variant | MODIFIER | c.144-2055_144-2053d others(5): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | 203047741 | |||||
| chr2:203047741
|
ATTTT | A | 6 | a0001c0001t0002g0105a0001c0001t0002g0108a0001c0001t0002g0153others(3): Show | 6 | HG00323.hp1 HG00642.hp2 HG01192.hp2 others(3): Show |
intron_variant | MODIFIER | c.144-2056_144-2053d others(6): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | 203047741 | |||||
| chr2:203047743
|
T | A | 1 | a0018c0018t0022g0022 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.144-2071T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | chr2 | 203047743 | ||||||
| chr2:203047828
|
C | T | 2 | a0001c0001t0001g0194a0018c0018t0022g0022 | 2 | HG02109.hp1 NA19004.hp2 |
intron_variant | MODIFIER | c.144-1986C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | chr2 | 203047828 | ||||||
| chr2:203048330
|
T | C | 252 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(249): Show | 252 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(249): Show |
intron_variant | MODIFIER | c.144-1484T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | chr2 | 203048330 | ||||||
| chr2:203048342
|
A | G | 2 | a0001c0001t0006g0259a0001c0001t0006g0271 | 2 | HG01952.hp2 HG02273.hp2 |
intron_variant | MODIFIER | c.144-1472A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | chr2 | 203048342 | ||||||
| chr2:203048380
|
C | CA | 12 | a0001c0001t0002g0087a0001c0001t0004g0081a0002c0002t0003g0060others(9): Show | 12 | HG00738.hp1 HG01943.hp2 HG02129.hp1 others(9): Show |
intron_variant | MODIFIER | c.144-1414dupA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | 203048380 | |||||
| chr2:203048380
|
CA | C | 151 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(148): Show | 151 | HG00323.hp2 HG00408.hp2 HG00423.hp1 others(148): Show |
intron_variant | MODIFIER | c.144-1414delA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | 203048380 | |||||
| chr2:203048380
|
CAA | C | 85 | a0001c0001t0001g0051a0001c0001t0002g0097a0001c0001t0002g0098others(82): Show | 85 | HG00323.hp1 HG00408.hp1 HG00438.hp2 others(82): Show |
intron_variant | MODIFIER | c.144-1415_144-1414d others(4): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | 203048380 | |||||
| chr2:203048596
|
T | C | 2 | a0001c0001t0001g0209a0001c0001t0001g0210 | 2 | HG00673.hp2 NA18946.hp2 |
intron_variant | MODIFIER | c.144-1218T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | chr2 | 203048596 | ||||||
| chr2:203048663
|
A | G | 2 | a0001c0001t0002g0118a0001c0001t0002g0146 | 2 | HG02602.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.144-1151A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | chr2 | 203048663 | ||||||
| chr2:203048829
|
A | G | 129 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(126): Show | 129 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(126): Show |
intron_variant | MODIFIER | c.144-985A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | chr2 | 203048829 | ||||||
| chr2:203048882
|
C | CT | 22 | a0001c0001t0002g0154a0003c0003t0004g0024a0003c0003t0004g0026others(19): Show | 22 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(19): Show |
intron_variant | MODIFIER | c.144-917dupT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | 203048882 | |||||
| chr2:203048882
|
CT | C | 120 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(117): Show | 120 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(117): Show |
intron_variant | MODIFIER | c.144-917delT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | 203048882 | |||||
| chr2:203048882
|
CTT | C | 14 | a0001c0001t0001g0185a0001c0001t0005g0277a0001c0001t0005g0283others(11): Show | 14 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(11): Show |
intron_variant | MODIFIER | c.144-918_144-917del others(2): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | 203048882 | |||||
| chr2:203049061
|
C | T | 22 | a0003c0003t0004g0024a0003c0003t0004g0026a0003c0003t0004g0027others(19): Show | 22 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(19): Show |
intron_variant | MODIFIER | c.144-753C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | chr2 | 203049061 | ||||||
| chr2:203049110
|
G | A | 10 | a0001c0001t0001g0188a0001c0001t0001g0231a0001c0001t0001g0253others(7): Show | 10 | HG02486.hp2 HG02630.hp2 HG02818.hp1 others(7): Show |
intron_variant | MODIFIER | c.144-704G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | chr2 | 203049110 | ||||||
| chr2:203049116
|
T | C | 1 | a0022c0032t0001g0246 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.144-698T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | chr2 | 203049116 | ||||||
| chr2:203049219
|
C | T | 129 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(126): Show | 129 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(126): Show |
intron_variant | MODIFIER | c.144-595C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | chr2 | 203049219 | ||||||
| chr2:203049252
|
G | GT | 22 | a0003c0003t0004g0024a0003c0003t0004g0026a0003c0003t0004g0027others(19): Show | 22 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(19): Show |
intron_variant | MODIFIER | c.144-560dupT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | INFO_REALIGN_3_PRIME | chr2 | 203049252 | |||||
| chr2:203049305
|
C | T | 6 | a0001c0001t0002g0098a0001c0001t0002g0107a0001c0001t0002g0116others(3): Show | 6 | HG00438.hp2 HG00609.hp1 HG02080.hp2 others(3): Show |
intron_variant | MODIFIER | c.144-509C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | chr2 | 203049305 | ||||||
| chr2:203049544
|
C | G | 22 | a0003c0003t0004g0024a0003c0003t0004g0026a0003c0003t0004g0027others(19): Show | 22 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(19): Show |
intron_variant | MODIFIER | c.144-270C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | chr2 | 203049544 | ||||||
| chr2:203049627
|
CT | C | 3 | a0001c0001t0006g0230a0001c0001t0006g0232a0001c0001t0006g0233 | 3 | HG00642.hp1 HG01358.hp1 HG01981.hp2 |
intron_variant | MODIFIER | c.144-186delT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | chr2 | 203049627 | ||||||
| chr2:203049673
|
G | A | 22 | a0003c0003t0004g0024a0003c0003t0004g0026a0003c0003t0004g0027others(19): Show | 22 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(19): Show |
intron_variant | MODIFIER | c.144-141G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | chr2 | 203049673 | ||||||
| chr2:203049684
|
G | A | 1 | a0001c0001t0001g0237 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.144-130G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 3/55 | chr2 | 203049684 | ||||||
| chr2:203050046
|
G | C | 6 | a0001c0001t0002g0103a0001c0001t0002g0119a0001c0001t0002g0120others(3): Show | 6 | NA18940.hp2 NA18946.hp1 NA18951.hp1 others(3): Show |
intron_variant | MODIFIER | c.305+71G>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 4/55 | chr2 | 203050046 | ||||||
| chr2:203050640
|
T | C | 1 | a0002c0002t0003g0066 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.305+665T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 4/55 | chr2 | 203050640 | ||||||
| chr2:203051394
|
A | G | 1 | a0001c0001t0006g0254 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.305+1419A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 4/55 | chr2 | 203051394 | ||||||
| chr2:203051495
|
G | A | 1 | a0001c0001t0002g0143 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.305+1520G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 4/55 | chr2 | 203051495 | ||||||
| chr2:203051544
|
CA | C | 8 | a0001c0001t0001g0020a0001c0001t0001g0051a0001c0001t0001g0221others(5): Show | 8 | HG01168.hp2 HG02258.hp1 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.305+1583delA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 4/55 | INFO_REALIGN_3_PRIME | chr2 | 203051544 | |||||
| chr2:203051574
|
G | A | 1 | a0001c0001t0002g0184 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.305+1599G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 4/55 | chr2 | 203051574 | ||||||
| chr2:203051585
|
T | C | 7 | a0001c0001t0001g0188a0001c0001t0001g0261a0001c0001t0001g0262others(4): Show | 7 | HG02486.hp2 HG02630.hp2 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.305+1610T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 4/55 | chr2 | 203051585 | ||||||
| chr2:203051693
|
A | T | 22 | a0003c0003t0004g0024a0003c0003t0004g0026a0003c0003t0004g0027others(19): Show | 22 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(19): Show |
intron_variant | MODIFIER | c.305+1718A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 4/55 | chr2 | 203051693 | ||||||
| chr2:203051764
|
T | G | 13 | a0001c0001t0005g0277a0001c0001t0005g0283a0001c0001t0019g0279others(10): Show | 13 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.305+1789T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 4/55 | chr2 | 203051764 | ||||||
| chr2:203051767
|
G | A | 96 | a0001c0001t0002g0097a0001c0001t0002g0098a0001c0001t0002g0099others(93): Show | 96 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(93): Show |
intron_variant | MODIFIER | c.305+1792G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 4/55 | chr2 | 203051767 | ||||||
| chr2:203052054
|
G | T | 1 | a0001c0001t0002g0153 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.305+2079G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 4/55 | chr2 | 203052054 | ||||||
| chr2:203052255
|
AT | A | 90 | a0001c0001t0002g0097a0001c0001t0002g0098a0001c0001t0002g0099others(87): Show | 90 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(87): Show |
intron_variant | MODIFIER | c.305+2294delT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 4/55 | INFO_REALIGN_3_PRIME | chr2 | 203052255 | |||||
| chr2:203052627
|
G | A | 2 | a0002c0002t0025g0075a0015c0021t0003g0074 | 2 | HG02257.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.305+2652G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 4/55 | chr2 | 203052627 | ||||||
| chr2:203052719
|
G | GTTAT | 11 | a0001c0001t0001g0051a0001c0001t0001g0052a0001c0001t0001g0220others(8): Show | 11 | HG00642.hp2 HG01081.hp1 HG01192.hp2 others(8): Show |
intron_variant | MODIFIER | c.305+2779_305+2782d others(6): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 4/55 | INFO_REALIGN_3_PRIME | chr2 | 203052719 | |||||
| chr2:203052719
|
G | GTTATTTA others(1): Show |
31 | a0001c0001t0001g0189a0001c0001t0001g0193a0001c0001t0001g0205others(28): Show | 31 | HG00423.hp2 HG00597.hp2 HG00609.hp2 others(28): Show |
intron_variant | MODIFIER | c.305+2775_305+2782d others(10): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 4/55 | INFO_REALIGN_3_PRIME | chr2 | 203052719 | |||||
| chr2:203052719
|
G | GTTATTTA others(5): Show |
54 | a0001c0001t0001g0177a0001c0001t0001g0185a0001c0001t0001g0186others(51): Show | 54 | HG00323.hp2 HG00673.hp2 HG00741.hp1 others(51): Show |
intron_variant | MODIFIER | c.305+2771_305+2782d others(14): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 4/55 | INFO_REALIGN_3_PRIME | chr2 | 203052719 | |||||
| chr2:203052719
|
G | GTTATTTA others(9): Show |
4 | a0001c0001t0001g0194a0001c0001t0001g0218a0001c0001t0001g0245others(1): Show | 4 | HG00642.hp1 HG02572.hp2 NA18969.hp2 others(1): Show |
intron_variant | MODIFIER | c.305+2767_305+2782d others(18): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 4/55 | INFO_REALIGN_3_PRIME | chr2 | 203052719 | |||||
| chr2:203052719
|
GTTATTTA others(1): Show |
G | 18 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(15): Show | 18 | HG00408.hp2 HG00544.hp2 HG01257.hp2 others(15): Show |
intron_variant | MODIFIER | c.305+2775_305+2782d others(10): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 4/55 | INFO_REALIGN_3_PRIME | chr2 | 203052719 | |||||
| chr2:203052719
|
GTTATTTA others(5): Show |
G | 1 | a0018c0018t0022g0022 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.305+2771_305+2782d others(14): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 4/55 | INFO_REALIGN_3_PRIME | chr2 | 203052719 | |||||
| chr2:203053367
|
C | T | 22 | a0003c0003t0004g0024a0003c0003t0004g0026a0003c0003t0004g0027others(19): Show | 22 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(19): Show |
intron_variant | MODIFIER | c.306-3060C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 4/55 | chr2 | 203053367 | ||||||
| chr2:203053375
|
G | A | 2 | a0006c0011t0017g0018a0020c0017t0017g0017 | 2 | HG03225.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.306-3052G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 4/55 | chr2 | 203053375 | ||||||
| chr2:203053408
|
T | A | 1 | a0001c0001t0002g0153 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.306-3019T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 4/55 | chr2 | 203053408 | ||||||
| chr2:203053577
|
C | T | 1 | a0001c0001t0001g0267 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.306-2850C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 4/55 | chr2 | 203053577 | ||||||
| chr2:203053735
|
C | A | 1 | a0001c0001t0001g0177 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.306-2692C>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 4/55 | chr2 | 203053735 | ||||||
| chr2:203053914
|
G | C | 1 | a0001c0001t0024g0016 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.306-2513G>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 4/55 | chr2 | 203053914 | ||||||
| chr2:203053938
|
T | C | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.306-2489T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 4/55 | chr2 | 203053938 | ||||||
| chr2:203054116
|
A | G | 116 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(113): Show | 116 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(113): Show |
intron_variant | MODIFIER | c.306-2311A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 4/55 | chr2 | 203054116 | ||||||
| chr2:203054254
|
C | T | 1 | a0001c0001t0041g0054 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.306-2173C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 4/55 | chr2 | 203054254 | ||||||
| chr2:203054425
|
CA | C | 6 | a0001c0001t0001g0227a0001c0001t0002g0121a0001c0001t0013g0257others(3): Show | 6 | HG01167.hp1 HG02451.hp2 HG02896.hp1 others(3): Show |
intron_variant | MODIFIER | c.306-1986delA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 4/55 | INFO_REALIGN_3_PRIME | chr2 | 203054425 | |||||
| chr2:203054441
|
A | T | 3 | a0001c0001t0001g0205a0001c0001t0001g0206a0001c0001t0006g0259 | 3 | HG02273.hp2 NA18999.hp1 NA19057.hp2 |
intron_variant | MODIFIER | c.306-1986A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 4/55 | chr2 | 203054441 | ||||||
| chr2:203054442
|
T | A | 1 | a0005c0006t0002g0163 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.306-1985T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 4/55 | chr2 | 203054442 | ||||||
| chr2:203054536
|
T | G | 1 | a0001c0001t0001g0013 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.306-1891T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 4/55 | chr2 | 203054536 | ||||||
| chr2:203054791
|
C | G | 2 | a0003c0003t0010g0041a0003c0003t0010g0044 | 2 | HG02895.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.306-1636C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 4/55 | chr2 | 203054791 | ||||||
| chr2:203054852
|
A | C | 1 | a0012c0028t0042g0250 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.306-1575A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 4/55 | chr2 | 203054852 | ||||||
| chr2:203054997
|
C | T | 1 | a0013c0027t0007g0053 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.306-1430C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 4/55 | chr2 | 203054997 | ||||||
| chr2:203055148
|
A | T | 1 | a0003c0003t0004g0031 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.306-1279A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 4/55 | chr2 | 203055148 | ||||||
| chr2:203055178
|
T | A | 1 | a0001c0004t0048g0285 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.306-1249T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 4/55 | chr2 | 203055178 | ||||||
| chr2:203055588
|
G | A | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.306-839G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 4/55 | chr2 | 203055588 | ||||||
| chr2:203055606
|
T | TA | 113 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(110): Show | 113 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(110): Show |
intron_variant | MODIFIER | c.306-811dupA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 4/55 | INFO_REALIGN_3_PRIME | chr2 | 203055606 | |||||
| chr2:203055606
|
TA | T | 5 | a0002c0002t0003g0046a0002c0002t0003g0048a0002c0002t0003g0049others(2): Show | 5 | HG02145.hp2 HG02451.hp2 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.306-811delA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 4/55 | INFO_REALIGN_3_PRIME | chr2 | 203055606 | |||||
| chr2:203055617
|
C | A | 1 | a0004c0005t0009g0176 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.306-810C>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 4/55 | chr2 | 203055617 | ||||||
| chr2:203055848
|
T | G | 1 | a0001c0001t0001g0185 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.306-579T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 4/55 | chr2 | 203055848 | ||||||
| chr2:203055897
|
G | A | 1 | a0002c0002t0027g0067 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.306-530G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 4/55 | chr2 | 203055897 | ||||||
| chr2:203056547
|
A | G | 252 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(249): Show | 252 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(249): Show |
intron_variant | MODIFIER | c.387+39A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 5/55 | chr2 | 203056547 | ||||||
| chr2:203056641
|
A | C | 1 | a0001c0001t0029g0236 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.387+133A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 5/55 | chr2 | 203056641 | ||||||
| chr2:203056725
|
G | A | 99 | a0001c0001t0002g0097a0001c0001t0002g0098a0001c0001t0002g0099others(96): Show | 99 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(96): Show |
intron_variant | MODIFIER | c.387+217G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 5/55 | chr2 | 203056725 | ||||||
| chr2:203057011
|
A | G | 3 | a0001c0001t0002g0167a0001c0001t0002g0168a0001c0023t0002g0169 | 3 | HG01167.hp2 HG01169.hp2 HG01358.hp2 |
intron_variant | MODIFIER | c.388-315A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 5/55 | chr2 | 203057011 | ||||||
| chr2:203057517
|
A | G | 2 | a0006c0011t0017g0018a0020c0017t0017g0017 | 2 | HG03225.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.515+64A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203057517 | ||||||
| chr2:203057563
|
C | A | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.515+110C>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203057563 | ||||||
| chr2:203057752
|
A | AT | 228 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(225): Show | 228 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(225): Show |
intron_variant | MODIFIER | c.515+305dupT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | INFO_REALIGN_3_PRIME | chr2 | 203057752 | |||||
| chr2:203057830
|
T | C | 3 | a0001c0009t0007g0055a0001c0009t0007g0056a0001c0009t0007g0057 | 3 | HG02976.hp1 HG03139.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.515+377T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203057830 | ||||||
| chr2:203057832
|
T | G | 3 | a0002c0002t0003g0046a0002c0002t0003g0049a0002c0002t0003g0050 | 3 | HG02451.hp2 HG02717.hp1 HG02895.hp2 |
intron_variant | MODIFIER | c.515+379T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203057832 | ||||||
| chr2:203057839
|
G | T | 3 | a0001c0009t0007g0055a0001c0009t0007g0056a0001c0009t0007g0057 | 3 | HG02976.hp1 HG03139.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.515+386G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203057839 | ||||||
| chr2:203057849
|
C | T | 229 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(226): Show | 229 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(226): Show |
intron_variant | MODIFIER | c.515+396C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203057849 | ||||||
| chr2:203057881
|
G | A | 2 | a0006c0011t0017g0018a0020c0017t0017g0017 | 2 | HG03225.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.515+428G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203057881 | ||||||
| chr2:203058004
|
C | T | 1 | a0001c0001t0041g0054 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.515+551C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203058004 | ||||||
| chr2:203058094
|
G | T | 1 | a0001c0001t0001g0264 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.515+641G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203058094 | ||||||
| chr2:203058291
|
C | A | 3 | a0001c0001t0001g0208a0001c0001t0036g0207a0014c0026t0001g0191 | 3 | HG00423.hp2 HG00609.hp2 HG01192.hp1 |
intron_variant | MODIFIER | c.515+838C>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203058291 | ||||||
| chr2:203058343
|
G | A | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.515+890G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203058343 | ||||||
| chr2:203058724
|
C | T | 129 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(126): Show | 129 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(126): Show |
intron_variant | MODIFIER | c.515+1271C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203058724 | ||||||
| chr2:203058928
|
A | G | 1 | a0001c0008t0001g0239 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.515+1475A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203058928 | ||||||
| chr2:203059129
|
A | C | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.515+1676A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203059129 | ||||||
| chr2:203059406
|
A | T | 2 | a0006c0011t0017g0018a0020c0017t0017g0017 | 2 | HG03225.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.515+1953A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203059406 | ||||||
| chr2:203059419
|
A | G | 4 | a0002c0002t0003g0083a0002c0002t0003g0084a0002c0002t0003g0085others(1): Show | 4 | HG02630.hp1 HG02723.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.515+1966A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203059419 | ||||||
| chr2:203059572
|
C | T | 1 | a0001c0001t0002g0153 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.515+2119C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203059572 | ||||||
| chr2:203059715
|
G | A | 1 | a0013c0027t0007g0053 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.515+2262G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203059715 | ||||||
| chr2:203059895
|
C | T | 1 | a0001c0001t0002g0150 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.515+2442C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203059895 | ||||||
| chr2:203060388
|
T | C | 1 | a0013c0027t0007g0053 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.515+2935T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203060388 | ||||||
| chr2:203060513
|
G | A | 1 | a0002c0002t0026g0094 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.515+3060G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203060513 | ||||||
| chr2:203060637
|
G | A | 13 | a0001c0001t0005g0277a0001c0001t0005g0283a0001c0001t0019g0279others(10): Show | 13 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.515+3184G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203060637 | ||||||
| chr2:203060651
|
G | A | 2 | a0006c0011t0017g0018a0020c0017t0017g0017 | 2 | HG03225.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.515+3198G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203060651 | ||||||
| chr2:203060769
|
T | C | 1 | a0001c0031t0002g0159 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.515+3316T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203060769 | ||||||
| chr2:203060866
|
C | T | 1 | a0001c0001t0029g0236 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.515+3413C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203060866 | ||||||
| chr2:203061548
|
A | G | 13 | a0001c0001t0005g0277a0001c0001t0005g0283a0001c0001t0019g0279others(10): Show | 13 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.515+4095A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203061548 | ||||||
| chr2:203061614
|
C | T | 23 | a0001c0001t0023g0045a0003c0003t0004g0024a0003c0003t0004g0026others(20): Show | 23 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(20): Show |
intron_variant | MODIFIER | c.515+4161C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203061614 | ||||||
| chr2:203061934
|
T | A | 2 | a0006c0011t0017g0018a0020c0017t0017g0017 | 2 | HG03225.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.515+4481T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203061934 | ||||||
| chr2:203062203
|
A | G | 1 | a0015c0021t0003g0074 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.515+4750A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203062203 | ||||||
| chr2:203062230
|
T | C | 5 | a0001c0001t0002g0124a0001c0001t0002g0125a0001c0001t0002g0126others(2): Show | 5 | NA18939.hp1 NA18974.hp1 NA18984.hp2 others(2): Show |
intron_variant | MODIFIER | c.515+4777T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203062230 | ||||||
| chr2:203062419
|
A | G | 2 | a0001c0001t0001g0269a0001c0001t0001g0270 | 2 | HG03490.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.515+4966A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203062419 | ||||||
| chr2:203062817
|
G | A | 2 | a0006c0011t0017g0018a0020c0017t0017g0017 | 2 | HG03225.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.515+5364G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203062817 | ||||||
| chr2:203062828
|
G | A | 91 | a0001c0001t0002g0097a0001c0001t0002g0098a0001c0001t0002g0099others(88): Show | 91 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(88): Show |
intron_variant | MODIFIER | c.515+5375G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203062828 | ||||||
| chr2:203062864
|
T | C | 13 | a0001c0001t0005g0277a0001c0001t0005g0283a0001c0001t0019g0279others(10): Show | 13 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.515+5411T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203062864 | ||||||
| chr2:203063013
|
T | C | 1 | a0001c0001t0001g0052 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.516-5380T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203063013 | ||||||
| chr2:203063048
|
A | G | 1 | a0018c0018t0022g0022 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.516-5345A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203063048 | ||||||
| chr2:203063438
|
T | G | 1 | a0002c0002t0003g0061 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.516-4955T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203063438 | ||||||
| chr2:203063669
|
T | C | 2 | a0003c0012t0011g0025a0003c0012t0011g0043 | 2 | HG02559.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.516-4724T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203063669 | ||||||
| chr2:203063904
|
A | G | 1 | a0001c0001t0037g0272 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.516-4489A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203063904 | ||||||
| chr2:203064045
|
T | C | 2 | a0001c0001t0001g0235a0001c0001t0001g0245 | 2 | NA18969.hp2 NA18980.hp2 |
intron_variant | MODIFIER | c.516-4348T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203064045 | ||||||
| chr2:203064095
|
C | G | 1 | a0003c0012t0011g0043 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.516-4298C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203064095 | ||||||
| chr2:203064115
|
G | A | 10 | a0001c0001t0006g0228a0001c0001t0006g0230a0001c0001t0006g0232others(7): Show | 10 | HG00642.hp1 HG01255.hp1 HG01358.hp1 others(7): Show |
intron_variant | MODIFIER | c.516-4278G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203064115 | ||||||
| chr2:203064267
|
G | C | 22 | a0003c0003t0004g0024a0003c0003t0004g0026a0003c0003t0004g0027others(19): Show | 22 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(19): Show |
intron_variant | MODIFIER | c.516-4126G>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203064267 | ||||||
| chr2:203064343
|
G | A | 1 | a0001c0001t0001g0235 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.516-4050G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203064343 | ||||||
| chr2:203064535
|
T | A | 22 | a0003c0003t0004g0024a0003c0003t0004g0026a0003c0003t0004g0027others(19): Show | 22 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(19): Show |
intron_variant | MODIFIER | c.516-3858T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203064535 | ||||||
| chr2:203064712
|
C | T | 22 | a0003c0003t0004g0024a0003c0003t0004g0026a0003c0003t0004g0027others(19): Show | 22 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(19): Show |
intron_variant | MODIFIER | c.516-3681C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203064712 | ||||||
| chr2:203064713
|
G | A | 3 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008 | 3 | HG01257.hp2 HG01258.hp1 HG02300.hp2 |
intron_variant | MODIFIER | c.516-3680G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203064713 | ||||||
| chr2:203064987
|
G | A | 10 | a0001c0001t0006g0228a0001c0001t0006g0230a0001c0001t0006g0232others(7): Show | 10 | HG00642.hp1 HG01255.hp1 HG01358.hp1 others(7): Show |
intron_variant | MODIFIER | c.516-3406G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203064987 | ||||||
| chr2:203065518
|
C | T | 1 | a0001c0001t0001g0014 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.516-2875C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203065518 | ||||||
| chr2:203065564
|
A | G | 3 | a0001c0001t0023g0045a0001c0001t0024g0016a0002c0002t0003g0021 | 3 | HG01884.hp2 HG02055.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.516-2829A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203065564 | ||||||
| chr2:203065611
|
G | A | 1 | a0001c0001t0035g0256 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.516-2782G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203065611 | ||||||
| chr2:203065621
|
G | A | 1 | a0001c0001t0041g0054 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.516-2772G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203065621 | ||||||
| chr2:203065662
|
G | A | 2 | a0001c0001t0001g0003a0001c0001t0001g0013 | 2 | HG03831.hp2 HG03942.hp2 |
intron_variant | MODIFIER | c.516-2731G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203065662 | ||||||
| chr2:203065701
|
G | A | 1 | a0001c0001t0001g0051 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.516-2692G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203065701 | ||||||
| chr2:203066036
|
G | A | 1 | a0001c0001t0001g0177 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.516-2357G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203066036 | ||||||
| chr2:203066150
|
A | G | 2 | a0002c0002t0003g0065a0002c0002t0026g0094 | 2 | HG00738.hp1 HG01943.hp2 |
intron_variant | MODIFIER | c.516-2243A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203066150 | ||||||
| chr2:203066180
|
T | G | 5 | a0001c0001t0001g0212a0001c0001t0001g0221a0001c0001t0001g0222others(2): Show | 5 | HG00323.hp2 HG01168.hp2 HG01175.hp1 others(2): Show |
intron_variant | MODIFIER | c.516-2213T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203066180 | ||||||
| chr2:203066289
|
A | G | 91 | a0001c0001t0002g0097a0001c0001t0002g0098a0001c0001t0002g0099others(88): Show | 91 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(88): Show |
intron_variant | MODIFIER | c.516-2104A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203066289 | ||||||
| chr2:203066323
|
C | CT | 48 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(45): Show | 48 | HG00738.hp1 HG00741.hp2 HG01257.hp1 others(45): Show |
intron_variant | MODIFIER | c.516-2053dupT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | INFO_REALIGN_3_PRIME | chr2 | 203066323 | |||||
| chr2:203066323
|
CT | C | 118 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(115): Show | 118 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(115): Show |
intron_variant | MODIFIER | c.516-2053delT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | INFO_REALIGN_3_PRIME | chr2 | 203066323 | |||||
| chr2:203066708
|
C | T | 2 | a0001c0001t0023g0045a0001c0001t0024g0016 | 2 | HG01884.hp2 HG02055.hp2 |
intron_variant | MODIFIER | c.516-1685C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203066708 | ||||||
| chr2:203066736
|
C | CG | 10 | a0001c0001t0001g0216a0001c0001t0002g0116a0001c0001t0002g0151others(7): Show | 10 | HG00544.hp1 HG00642.hp2 HG00673.hp1 others(7): Show |
intron_variant | MODIFIER | c.516-1653dupG | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | INFO_REALIGN_3_PRIME | chr2 | 203066736 | |||||
| chr2:203066786
|
G | A | 1 | a0015c0021t0003g0074 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.516-1607G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203066786 | ||||||
| chr2:203066859
|
G | A | 2 | a0001c0001t0015g0127a0001c0001t0015g0128 | 2 | HG00733.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.516-1534G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203066859 | ||||||
| chr2:203066865
|
G | A | 22 | a0003c0003t0004g0024a0003c0003t0004g0026a0003c0003t0004g0027others(19): Show | 22 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(19): Show |
intron_variant | MODIFIER | c.516-1528G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203066865 | ||||||
| chr2:203066874
|
C | T | 13 | a0001c0001t0005g0277a0001c0001t0005g0283a0001c0001t0019g0279others(10): Show | 13 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.516-1519C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203066874 | ||||||
| chr2:203066897
|
C | T | 1 | a0001c0001t0005g0277 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.516-1496C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203066897 | ||||||
| chr2:203066941
|
G | A | 1 | a0001c0007t0002g0090 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.516-1452G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203066941 | ||||||
| chr2:203067010
|
C | T | 1 | a0002c0002t0003g0046 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.516-1383C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203067010 | ||||||
| chr2:203067082
|
A | G | 291 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(288): Show | 291 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(288): Show |
intron_variant | MODIFIER | c.516-1311A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203067082 | ||||||
| chr2:203067453
|
A | G | 14 | a0001c0001t0001g0009a0001c0001t0005g0277a0001c0001t0005g0283others(11): Show | 14 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(11): Show |
intron_variant | MODIFIER | c.516-940A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203067453 | ||||||
| chr2:203067546
|
T | C | 2 | a0001c0001t0013g0251a0001c0001t0013g0257 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.516-847T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203067546 | ||||||
| chr2:203067604
|
G | A | 1 | a0001c0001t0001g0266 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.516-789G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203067604 | ||||||
| chr2:203067649
|
G | T | 1 | a0001c0001t0001g0238 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.516-744G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203067649 | ||||||
| chr2:203067705
|
G | A | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.516-688G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203067705 | ||||||
| chr2:203067788
|
C | T | 2 | a0001c0001t0002g0183a0001c0001t0002g0184 | 2 | HG00642.hp2 HG01192.hp2 |
intron_variant | MODIFIER | c.516-605C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203067788 | ||||||
| chr2:203067794
|
A | G | 2 | a0001c0009t0007g0056a0001c0009t0007g0057 | 2 | HG03139.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.516-599A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203067794 | ||||||
| chr2:203068213
|
A | G | 6 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(3): Show | 6 | HG01257.hp2 HG01258.hp1 HG02293.hp2 others(3): Show |
intron_variant | MODIFIER | c.516-180A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203068213 | ||||||
| chr2:203068253
|
A | T | 1 | a0001c0001t0037g0272 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.516-140A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203068253 | ||||||
| chr2:203068271
|
A | G | 17 | a0002c0002t0003g0060a0002c0002t0003g0061a0002c0002t0003g0062others(14): Show | 17 | HG00738.hp1 HG01943.hp2 HG01975.hp2 others(14): Show |
intron_variant | MODIFIER | c.516-122A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 6/55 | chr2 | 203068271 | ||||||
| chr2:203068504
|
A | G | 2 | a0001c0001t0002g0167a0001c0001t0002g0168 | 2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.598+29A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203068504 | ||||||
| chr2:203068616
|
A | G | 9 | a0001c0004t0005g0273a0001c0004t0005g0274a0001c0004t0005g0275others(6): Show | 9 | HG00735.hp1 HG00738.hp2 HG01099.hp1 others(6): Show |
intron_variant | MODIFIER | c.598+141A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203068616 | ||||||
| chr2:203068665
|
G | A | 15 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(12): Show | 15 | HG00408.hp2 HG00544.hp2 HG01257.hp2 others(12): Show |
intron_variant | MODIFIER | c.598+190G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203068665 | ||||||
| chr2:203068762
|
G | A | 1 | a0001c0001t0024g0016 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.598+287G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203068762 | ||||||
| chr2:203069449
|
A | G | 5 | a0001c0001t0001g0215a0001c0001t0001g0216a0001c0001t0001g0217others(2): Show | 5 | HG02572.hp2 HG02723.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.598+974A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203069449 | ||||||
| chr2:203069961
|
G | T | 2 | a0001c0001t0001g0051a0001c0001t0001g0052 | 2 | HG02258.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.598+1486G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203069961 | ||||||
| chr2:203070358
|
T | G | 2 | a0001c0001t0001g0051a0001c0001t0001g0052 | 2 | HG02258.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.598+1883T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203070358 | ||||||
| chr2:203070359
|
C | CT | 15 | a0001c0001t0001g0200a0001c0001t0001g0252a0001c0001t0005g0277others(12): Show | 15 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(12): Show |
intron_variant | MODIFIER | c.598+1904dupT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | INFO_REALIGN_3_PRIME | chr2 | 203070359 | |||||
| chr2:203070359
|
CT | C | 85 | a0001c0001t0001g0202a0001c0001t0001g0205a0001c0001t0001g0221others(82): Show | 85 | HG00609.hp2 HG00642.hp2 HG00735.hp2 others(82): Show |
intron_variant | MODIFIER | c.598+1904delT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | INFO_REALIGN_3_PRIME | chr2 | 203070359 | |||||
| chr2:203070359
|
CTT | C | 7 | a0001c0001t0002g0105a0001c0001t0002g0123a0001c0001t0002g0167others(4): Show | 7 | HG00323.hp1 HG00733.hp2 HG01169.hp2 others(4): Show |
intron_variant | MODIFIER | c.598+1903_598+1904d others(4): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | INFO_REALIGN_3_PRIME | chr2 | 203070359 | |||||
| chr2:203070499
|
G | T | 1 | a0022c0032t0001g0246 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.598+2024G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203070499 | ||||||
| chr2:203070519
|
A | G | 5 | a0001c0001t0001g0215a0001c0001t0001g0216a0001c0001t0001g0217others(2): Show | 5 | HG02572.hp2 HG02723.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.598+2044A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203070519 | ||||||
| chr2:203070824
|
A | G | 2 | a0002c0002t0003g0065a0002c0002t0026g0094 | 2 | HG00738.hp1 HG01943.hp2 |
intron_variant | MODIFIER | c.598+2349A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203070824 | ||||||
| chr2:203070841
|
C | T | 74 | a0001c0001t0001g0020a0001c0001t0001g0177a0001c0001t0001g0185others(71): Show | 74 | HG00323.hp2 HG00423.hp2 HG00597.hp2 others(71): Show |
intron_variant | MODIFIER | c.598+2366C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203070841 | ||||||
| chr2:203070862
|
C | G | 2 | a0003c0003t0010g0041a0003c0003t0010g0044 | 2 | HG02895.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.598+2387C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203070862 | ||||||
| chr2:203070896
|
G | A | 1 | a0001c0001t0001g0006 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.598+2421G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203070896 | ||||||
| chr2:203070909
|
A | G | 1 | a0001c0001t0001g0267 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.598+2434A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203070909 | ||||||
| chr2:203070984
|
G | A | 1 | a0001c0001t0002g0104 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.598+2509G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203070984 | ||||||
| chr2:203071203
|
A | G | 6 | a0001c0001t0002g0104a0001c0001t0002g0113a0001c0001t0002g0156others(3): Show | 6 | HG03688.hp2 HG03942.hp1 HG04115.hp2 others(3): Show |
intron_variant | MODIFIER | c.598+2728A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203071203 | ||||||
| chr2:203072414
|
T | G | 1 | a0001c0001t0036g0207 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.598+3939T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203072414 | ||||||
| chr2:203072424
|
A | T | 2 | a0001c0001t0023g0045a0018c0018t0022g0022 | 2 | HG01884.hp2 HG02109.hp1 |
intron_variant | MODIFIER | c.598+3949A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203072424 | ||||||
| chr2:203072452
|
A | G | 93 | a0001c0001t0001g0020a0001c0001t0001g0051a0001c0001t0001g0052others(90): Show | 93 | HG00323.hp2 HG00423.hp2 HG00597.hp2 others(90): Show |
intron_variant | MODIFIER | c.598+3977A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203072452 | ||||||
| chr2:203072705
|
A | G | 1 | a0001c0001t0001g0199 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.598+4230A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203072705 | ||||||
| chr2:203073185
|
T | A | 13 | a0001c0001t0005g0277a0001c0001t0005g0283a0001c0001t0019g0279others(10): Show | 13 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.599-4567T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203073185 | ||||||
| chr2:203073981
|
A | T | 1 | a0001c0001t0039g0223 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.599-3771A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203073981 | ||||||
| chr2:203074071
|
A | T | 2 | a0001c0001t0023g0045a0001c0001t0024g0016 | 2 | HG01884.hp2 HG02055.hp2 |
intron_variant | MODIFIER | c.599-3681A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203074071 | ||||||
| chr2:203074317
|
CT | C | 112 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(109): Show | 112 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(109): Show |
intron_variant | MODIFIER | c.599-3410delT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | INFO_REALIGN_3_PRIME | chr2 | 203074317 | |||||
| chr2:203074317
|
CTTTTTTT | C | 25 | a0001c0001t0002g0146a0003c0003t0004g0024a0003c0003t0004g0026others(22): Show | 25 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(22): Show |
intron_variant | MODIFIER | c.599-3416_599-3410d others(9): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | INFO_REALIGN_3_PRIME | chr2 | 203074317 | |||||
| chr2:203074317
|
CTTTTTTT others(1): Show |
C | 100 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(97): Show | 100 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(97): Show |
intron_variant | MODIFIER | c.599-3417_599-3410d others(10): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | INFO_REALIGN_3_PRIME | chr2 | 203074317 | |||||
| chr2:203074317
|
CTTTTTTT others(4): Show |
C | 1 | a0002c0002t0003g0021 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.599-3420_599-3410d others(13): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | INFO_REALIGN_3_PRIME | chr2 | 203074317 | |||||
| chr2:203074574
|
C | T | 1 | a0001c0001t0024g0016 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.599-3178C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203074574 | ||||||
| chr2:203074584
|
T | C | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.599-3168T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203074584 | ||||||
| chr2:203074710
|
A | G | 1 | a0011c0029t0028g0095 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.599-3042A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203074710 | ||||||
| chr2:203074917
|
A | G | 15 | a0001c0001t0005g0277a0001c0001t0005g0283a0001c0001t0019g0279others(12): Show | 15 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(12): Show |
intron_variant | MODIFIER | c.599-2835A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203074917 | ||||||
| chr2:203075071
|
G | C | 1 | a0002c0002t0003g0086 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.599-2681G>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203075071 | ||||||
| chr2:203075162
|
A | G | 1 | a0001c0001t0041g0054 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.599-2590A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203075162 | ||||||
| chr2:203075246
|
C | G | 116 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(113): Show | 116 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(113): Show |
intron_variant | MODIFIER | c.599-2506C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203075246 | ||||||
| chr2:203075546
|
G | A | 1 | a0003c0003t0004g0027 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.599-2206G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203075546 | ||||||
| chr2:203075568
|
C | A | 2 | a0001c0001t0023g0045a0001c0001t0024g0016 | 2 | HG01884.hp2 HG02055.hp2 |
intron_variant | MODIFIER | c.599-2184C>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203075568 | ||||||
| chr2:203075821
|
T | C | 3 | a0001c0001t0001g0243a0001c0001t0001g0244a0001c0001t0001g0287 | 3 | NA18970.hp2 NA18991.hp1 NA19009.hp2 |
intron_variant | MODIFIER | c.599-1931T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203075821 | ||||||
| chr2:203075884
|
C | T | 19 | a0003c0003t0004g0024a0003c0003t0004g0026a0003c0003t0004g0027others(16): Show | 19 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(16): Show |
intron_variant | MODIFIER | c.599-1868C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203075884 | ||||||
| chr2:203076014
|
T | C | 1 | a0001c0001t0001g0220 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.599-1738T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203076014 | ||||||
| chr2:203076122
|
C | T | 1 | a0009c0033t0001g0203 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.599-1630C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203076122 | ||||||
| chr2:203076193
|
A | G | 1 | a0001c0030t0049g0247 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.599-1559A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203076193 | ||||||
| chr2:203076319
|
C | A | 98 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(95): Show | 98 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(95): Show |
intron_variant | MODIFIER | c.599-1433C>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203076319 | ||||||
| chr2:203076480
|
AAC | A | 248 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(245): Show | 248 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(245): Show |
intron_variant | MODIFIER | c.599-1270_599-1269d others(4): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | INFO_REALIGN_3_PRIME | chr2 | 203076480 | |||||
| chr2:203076481
|
AC | A | 10 | a0001c0001t0001g0189a0001c0001t0001g0248a0001c0001t0039g0223others(7): Show | 10 | HG00597.hp2 HG02109.hp1 HG02145.hp1 others(7): Show |
intron_variant | MODIFIER | c.599-1270delC | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203076481 | ||||||
| chr2:203076482
|
C | A | 1 | a0002c0002t0003g0021 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.599-1270C>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203076482 | ||||||
| chr2:203076485
|
A | C | 3 | a0001c0031t0002g0159a0006c0011t0017g0018a0020c0017t0017g0017 | 3 | HG03225.hp2 HG03453.hp2 NA18994.hp1 |
intron_variant | MODIFIER | c.599-1267A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203076485 | ||||||
| chr2:203076486
|
C | A | 259 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(256): Show | 259 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(256): Show |
intron_variant | MODIFIER | c.599-1266C>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203076486 | ||||||
| chr2:203076490
|
C | A | 1 | a0001c0001t0001g0268 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.599-1262C>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203076490 | ||||||
| chr2:203076491
|
A | C | 1 | a0001c0001t0001g0268 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.599-1261A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203076491 | ||||||
| chr2:203076493
|
AC | A | 136 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(133): Show | 136 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(133): Show |
intron_variant | MODIFIER | c.599-1258delC | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203076493 | ||||||
| chr2:203076494
|
C | A | 123 | a0001c0001t0001g0268a0001c0001t0002g0079a0001c0001t0002g0087others(120): Show | 123 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(120): Show |
intron_variant | MODIFIER | c.599-1258C>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203076494 | ||||||
| chr2:203076495
|
A | C | 2 | a0001c0001t0002g0112a0001c0001t0002g0182 | 2 | HG03831.hp1 NA19084.hp1 |
intron_variant | MODIFIER | c.599-1257A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203076495 | ||||||
| chr2:203076497
|
A | C | 1 | a0016c0022t0001g0190 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.599-1255A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203076497 | ||||||
| chr2:203076589
|
C | CT | 211 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(208): Show | 211 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(208): Show |
intron_variant | MODIFIER | c.599-1143dupT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | INFO_REALIGN_3_PRIME | chr2 | 203076589 | |||||
| chr2:203076589
|
C | CTT | 22 | a0001c0001t0001g0003a0001c0001t0001g0051a0001c0001t0001g0052others(19): Show | 22 | HG00544.hp2 HG01109.hp2 HG01192.hp1 others(19): Show |
intron_variant | MODIFIER | c.599-1144_599-1143d others(4): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | INFO_REALIGN_3_PRIME | chr2 | 203076589 | |||||
| chr2:203076740
|
C | T | 1 | a0022c0032t0001g0246 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.599-1012C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203076740 | ||||||
| chr2:203076889
|
G | A | 2 | a0001c0001t0002g0099a0001c0001t0002g0148 | 2 | NA18980.hp1 NA18999.hp2 |
intron_variant | MODIFIER | c.599-863G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203076889 | ||||||
| chr2:203077060
|
A | T | 5 | a0002c0002t0003g0046a0002c0002t0003g0048a0002c0002t0003g0049others(2): Show | 5 | HG02145.hp2 HG02451.hp2 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.599-692A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203077060 | ||||||
| chr2:203077148
|
A | G | 1 | a0001c0001t0002g0151 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.599-604A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203077148 | ||||||
| chr2:203077156
|
A | G | 2 | a0001c0001t0002g0183a0001c0001t0002g0184 | 2 | HG00642.hp2 HG01192.hp2 |
intron_variant | MODIFIER | c.599-596A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203077156 | ||||||
| chr2:203077189
|
G | A | 259 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(256): Show | 259 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(256): Show |
intron_variant | MODIFIER | c.599-563G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203077189 | ||||||
| chr2:203077431
|
C | G | 4 | a0001c0008t0001g0239a0001c0008t0001g0240a0001c0008t0001g0241others(1): Show | 4 | NA18951.hp2 NA18968.hp1 NA19010.hp2 others(1): Show |
intron_variant | MODIFIER | c.599-321C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203077431 | ||||||
| chr2:203077555
|
G | A | 22 | a0003c0003t0004g0024a0003c0003t0004g0026a0003c0003t0004g0027others(19): Show | 22 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(19): Show |
intron_variant | MODIFIER | c.599-197G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 7/55 | chr2 | 203077555 | ||||||
| chr2:203077905
|
T | C | 1 | a0018c0018t0022g0022 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.684+68T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 8/55 | chr2 | 203077905 | ||||||
| chr2:203078445
|
A | G | 13 | a0001c0001t0005g0277a0001c0001t0005g0283a0001c0001t0019g0279others(10): Show | 13 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.684+608A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 8/55 | chr2 | 203078445 | ||||||
| chr2:203078576
|
C | T | 110 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(107): Show | 110 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(107): Show |
intron_variant | MODIFIER | c.684+739C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 8/55 | chr2 | 203078576 | ||||||
| chr2:203078777
|
G | A | 2 | a0001c0001t0023g0045a0001c0001t0024g0016 | 2 | HG01884.hp2 HG02055.hp2 |
intron_variant | MODIFIER | c.684+940G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 8/55 | chr2 | 203078777 | ||||||
| chr2:203079061
|
GTTTGTTT others(3): Show |
G | 1 | a0001c0001t0002g0292 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.684+1237_684+1246d others(12): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 8/55 | INFO_REALIGN_3_PRIME | chr2 | 203079061 | |||||
| chr2:203079154
|
A | C | 1 | a0003c0012t0011g0043 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.684+1317A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 8/55 | chr2 | 203079154 | ||||||
| chr2:203079169
|
T | A | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.684+1332T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 8/55 | chr2 | 203079169 | ||||||
| chr2:203079280
|
T | C | 2 | a0006c0011t0017g0018a0020c0017t0017g0017 | 2 | HG03225.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.684+1443T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 8/55 | chr2 | 203079280 | ||||||
| chr2:203079305
|
A | G | 98 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(95): Show | 98 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(95): Show |
intron_variant | MODIFIER | c.684+1468A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 8/55 | chr2 | 203079305 | ||||||
| chr2:203079360
|
G | A | 1 | a0001c0001t0041g0054 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.684+1523G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 8/55 | chr2 | 203079360 | ||||||
| chr2:203079681
|
A | T | 1 | a0001c0001t0002g0291 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.684+1844A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 8/55 | chr2 | 203079681 | ||||||
| chr2:203079691
|
G | A | 1 | a0001c0030t0049g0247 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.684+1854G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 8/55 | chr2 | 203079691 | ||||||
| chr2:203079902
|
T | C | 1 | a0001c0001t0033g0136 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.684+2065T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 8/55 | chr2 | 203079902 | ||||||
| chr2:203080026
|
T | G | 1 | a0001c0001t0001g0013 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.684+2189T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 8/55 | chr2 | 203080026 | ||||||
| chr2:203080337
|
G | A | 1 | a0001c0001t0001g0020 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.684+2500G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 8/55 | chr2 | 203080337 | ||||||
| chr2:203080876
|
A | G | 1 | a0001c0001t0001g0253 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.685-2343A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 8/55 | chr2 | 203080876 | ||||||
| chr2:203081146
|
A | T | 3 | a0001c0001t0034g0058a0002c0002t0025g0075a0015c0021t0003g0074 | 3 | HG02257.hp2 HG02622.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.685-2073A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 8/55 | chr2 | 203081146 | ||||||
| chr2:203081273
|
T | A | 3 | a0001c0001t0004g0081a0002c0002t0003g0078a0002c0002t0003g0082 | 3 | HG02970.hp1 NA18906.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.685-1946T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 8/55 | chr2 | 203081273 | ||||||
| chr2:203081414
|
C | T | 1 | a0002c0002t0003g0021 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.685-1805C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 8/55 | chr2 | 203081414 | ||||||
| chr2:203081870
|
G | A | 1 | a0001c0001t0002g0290 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.685-1349G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 8/55 | chr2 | 203081870 | ||||||
| chr2:203081997
|
A | G | 1 | a0002c0002t0025g0075 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.685-1222A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 8/55 | chr2 | 203081997 | ||||||
| chr2:203082161
|
G | T | 1 | a0002c0002t0003g0021 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.685-1058G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 8/55 | chr2 | 203082161 | ||||||
| chr2:203082547
|
A | G | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.685-672A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 8/55 | chr2 | 203082547 | ||||||
| chr2:203082672
|
A | G | 2 | a0002c0014t0003g0076a0019c0013t0003g0077 | 2 | HG03130.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.685-547A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 8/55 | chr2 | 203082672 | ||||||
| chr2:203082870
|
T | C | 1 | a0001c0001t0002g0178 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.685-349T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 8/55 | chr2 | 203082870 | ||||||
| chr2:203082986
|
A | G | 1 | a0002c0002t0027g0067 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.685-233A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 8/55 | chr2 | 203082986 | ||||||
| chr2:203083770
|
C | T | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.991+245C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 9/55 | chr2 | 203083770 | ||||||
| chr2:203083804
|
G | T | 1 | a0001c0001t0024g0016 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.991+279G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 9/55 | chr2 | 203083804 | ||||||
| chr2:203083848
|
A | T | 1 | a0001c0001t0044g0201 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.991+323A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 9/55 | chr2 | 203083848 | ||||||
| chr2:203083976
|
C | CTG | 42 | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0020others(39): Show | 42 | HG00323.hp2 HG00423.hp2 HG00609.hp2 others(39): Show |
intron_variant | MODIFIER | c.992-443_992-442dup others(2): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 9/55 | INFO_REALIGN_3_PRIME | chr2 | 203083976 | |||||
| chr2:203083976
|
C | CTGTG | 46 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(43): Show | 46 | HG00544.hp2 HG00741.hp1 HG01256.hp1 others(43): Show |
intron_variant | MODIFIER | c.992-445_992-442dup others(4): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 9/55 | INFO_REALIGN_3_PRIME | chr2 | 203083976 | |||||
| chr2:203083976
|
C | CTGTGTG | 15 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0224others(12): Show | 15 | HG00738.hp1 HG02055.hp1 HG02080.hp1 others(12): Show |
intron_variant | MODIFIER | c.992-447_992-442dup others(6): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 9/55 | INFO_REALIGN_3_PRIME | chr2 | 203083976 | |||||
| chr2:203083976
|
C | CTGTGTGT others(1): Show |
22 | a0001c0001t0001g0211a0001c0001t0001g0219a0001c0001t0001g0226others(19): Show | 22 | HG00408.hp2 HG01192.hp1 HG01358.hp1 others(19): Show |
intron_variant | MODIFIER | c.992-449_992-442dup others(8): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 9/55 | INFO_REALIGN_3_PRIME | chr2 | 203083976 | |||||
| chr2:203083976
|
C | CTGTGTGT others(3): Show |
6 | a0001c0001t0001g0185a0001c0001t0001g0216a0001c0001t0029g0236others(3): Show | 6 | HG01516.hp1 HG03579.hp2 HG03688.hp1 others(3): Show |
intron_variant | MODIFIER | c.992-451_992-442dup others(10): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 9/55 | INFO_REALIGN_3_PRIME | chr2 | 203083976 | |||||
| chr2:203083976
|
C | CTGTGTGT others(5): Show |
3 | a0001c0001t0001g0215a0001c0001t0001g0218a0001c0001t0001g0220 | 3 | HG01081.hp1 HG02572.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.992-453_992-442dup others(12): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 9/55 | INFO_REALIGN_3_PRIME | chr2 | 203083976 | |||||
| chr2:203083976
|
C | CTGTGTGT others(7): Show |
2 | a0001c0001t0006g0254a0002c0002t0008g0080 | 2 | HG02293.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.992-455_992-442dup others(14): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 9/55 | INFO_REALIGN_3_PRIME | chr2 | 203083976 | |||||
| chr2:203083976
|
CTG | C | 82 | a0001c0001t0001g0205a0001c0001t0001g0206a0001c0001t0001g0252others(79): Show | 82 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(79): Show |
intron_variant | MODIFIER | c.992-443_992-442del others(2): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 9/55 | INFO_REALIGN_3_PRIME | chr2 | 203083976 | |||||
| chr2:203083976
|
CTGTG | C | 11 | a0001c0001t0002g0103a0001c0001t0002g0118a0001c0001t0002g0119others(8): Show | 11 | HG01361.hp2 HG02602.hp2 HG02976.hp1 others(8): Show |
intron_variant | MODIFIER | c.992-445_992-442del others(4): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 9/55 | INFO_REALIGN_3_PRIME | chr2 | 203083976 | |||||
| chr2:203083976
|
CTGTGTGT others(3): Show |
C | 3 | a0001c0001t0001g0209a0001c0001t0001g0210a0001c0001t0039g0223 | 3 | HG00597.hp2 HG00673.hp2 NA18946.hp2 |
intron_variant | MODIFIER | c.992-451_992-442del others(10): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 9/55 | INFO_REALIGN_3_PRIME | chr2 | 203083976 | |||||
| chr2:203083976
|
CTGTGTGT others(7): Show |
C | 1 | a0002c0002t0003g0073 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.992-455_992-442del others(14): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 9/55 | INFO_REALIGN_3_PRIME | chr2 | 203083976 | |||||
| chr2:203084021
|
T | TGTGTGTG others(4): Show |
1 | a0001c0001t0006g0232 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.992-442_992-441ins others(11): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 9/55 | chr2 | 203084021 | ||||||
| chr2:203084269
|
G | C | 1 | a0001c0001t0002g0129 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.992-194G>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 9/55 | chr2 | 203084269 | ||||||
| chr2:203084378
|
T | C | 1 | a0001c0001t0024g0016 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.992-85T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 9/55 | chr2 | 203084378 | ||||||
| chr2:203084952
|
C | T | 1 | a0001c0001t0029g0236 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.1098+383C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203084952 | ||||||
| chr2:203085096
|
A | G | 1 | a0001c0001t0041g0054 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1098+527A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203085096 | ||||||
| chr2:203085214
|
G | A | 18 | a0003c0003t0004g0026a0003c0003t0004g0027a0003c0003t0004g0028others(15): Show | 18 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(15): Show |
intron_variant | MODIFIER | c.1098+645G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203085214 | ||||||
| chr2:203085233
|
C | T | 98 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(95): Show | 98 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(95): Show |
intron_variant | MODIFIER | c.1098+664C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203085233 | ||||||
| chr2:203085240
|
C | G | 3 | a0001c0009t0007g0055a0001c0009t0007g0056a0001c0009t0007g0057 | 3 | HG02976.hp1 HG03139.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.1098+671C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203085240 | ||||||
| chr2:203085353
|
G | A | 22 | a0003c0003t0004g0024a0003c0003t0004g0026a0003c0003t0004g0027others(19): Show | 22 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(19): Show |
intron_variant | MODIFIER | c.1098+784G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203085353 | ||||||
| chr2:203085869
|
G | A | 258 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(255): Show | 258 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(255): Show |
intron_variant | MODIFIER | c.1098+1300G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203085869 | ||||||
| chr2:203085877
|
G | A | 2 | a0001c0001t0023g0045a0001c0001t0024g0016 | 2 | HG01884.hp2 HG02055.hp2 |
intron_variant | MODIFIER | c.1098+1308G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203085877 | ||||||
| chr2:203086162
|
C | G | 1 | a0006c0011t0017g0018 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1098+1593C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203086162 | ||||||
| chr2:203086449
|
T | C | 1 | a0001c0001t0024g0016 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1098+1880T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203086449 | ||||||
| chr2:203086615
|
A | C | 2 | a0001c0001t0002g0183a0001c0001t0002g0184 | 2 | HG00642.hp2 HG01192.hp2 |
intron_variant | MODIFIER | c.1098+2046A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203086615 | ||||||
| chr2:203086703
|
C | T | 2 | a0001c0001t0023g0045a0001c0001t0024g0016 | 2 | HG01884.hp2 HG02055.hp2 |
intron_variant | MODIFIER | c.1098+2134C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203086703 | ||||||
| chr2:203086827
|
G | C | 105 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(102): Show | 105 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(102): Show |
intron_variant | MODIFIER | c.1098+2258G>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203086827 | ||||||
| chr2:203087019
|
A | G | 1 | a0001c0007t0002g0059 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1098+2450A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203087019 | ||||||
| chr2:203087090
|
C | CT | 29 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006others(26): Show | 29 | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(26): Show |
intron_variant | MODIFIER | c.1098+2543dupT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | INFO_REALIGN_3_PRIME | chr2 | 203087090 | |||||
| chr2:203087123
|
T | C | 13 | a0001c0001t0005g0277a0001c0001t0005g0283a0001c0001t0019g0279others(10): Show | 13 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.1098+2554T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203087123 | ||||||
| chr2:203087336
|
C | G | 13 | a0001c0001t0005g0277a0001c0001t0005g0283a0001c0001t0019g0279others(10): Show | 13 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.1098+2767C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203087336 | ||||||
| chr2:203087371
|
G | A | 6 | a0001c0001t0014g0019a0001c0001t0014g0260a0001c0001t0041g0054others(3): Show | 6 | HG02451.hp1 HG02486.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.1098+2802G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203087371 | ||||||
| chr2:203087609
|
A | T | 2 | a0001c0001t0023g0045a0001c0001t0024g0016 | 2 | HG01884.hp2 HG02055.hp2 |
intron_variant | MODIFIER | c.1098+3040A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203087609 | ||||||
| chr2:203087693
|
A | G | 3 | a0001c0001t0004g0081a0002c0002t0003g0078a0002c0002t0003g0082 | 3 | HG02970.hp1 NA18906.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.1098+3124A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203087693 | ||||||
| chr2:203087800
|
A | C | 5 | a0001c0001t0001g0212a0001c0001t0001g0221a0001c0001t0001g0222others(2): Show | 5 | HG00323.hp2 HG01168.hp2 HG01175.hp1 others(2): Show |
intron_variant | MODIFIER | c.1098+3231A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203087800 | ||||||
| chr2:203087903
|
G | A | 2 | a0001c0001t0001g0200a0001c0020t0001g0192 | 2 | HG03491.hp2 HG03669.hp2 |
intron_variant | MODIFIER | c.1098+3334G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203087903 | ||||||
| chr2:203088015
|
C | T | 1 | a0001c0001t0001g0003 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1098+3446C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203088015 | ||||||
| chr2:203088214
|
A | G | 16 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(13): Show | 16 | HG00408.hp2 HG00544.hp2 HG01257.hp2 others(13): Show |
intron_variant | MODIFIER | c.1098+3645A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203088214 | ||||||
| chr2:203088299
|
G | C | 1 | a0001c0001t0002g0137 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1098+3730G>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203088299 | ||||||
| chr2:203088339
|
A | G | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1098+3770A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203088339 | ||||||
| chr2:203088511
|
G | C | 259 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(256): Show | 259 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(256): Show |
intron_variant | MODIFIER | c.1098+3942G>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203088511 | ||||||
| chr2:203088731
|
A | G | 55 | a0001c0001t0002g0097a0001c0001t0002g0098a0001c0001t0002g0099others(52): Show | 55 | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(52): Show |
intron_variant | MODIFIER | c.1098+4162A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203088731 | ||||||
| chr2:203088768
|
T | G | 22 | a0003c0003t0004g0024a0003c0003t0004g0026a0003c0003t0004g0027others(19): Show | 22 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(19): Show |
intron_variant | MODIFIER | c.1098+4199T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203088768 | ||||||
| chr2:203088777
|
C | T | 1 | a0013c0027t0007g0053 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1098+4208C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203088777 | ||||||
| chr2:203088905
|
G | A | 1 | a0013c0027t0007g0053 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1098+4336G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203088905 | ||||||
| chr2:203088932
|
G | A | 1 | a0001c0001t0024g0016 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1098+4363G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203088932 | ||||||
| chr2:203089266
|
A | C | 2 | a0006c0011t0017g0018a0020c0017t0017g0017 | 2 | HG03225.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.1098+4697A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203089266 | ||||||
| chr2:203089307
|
C | T | 1 | a0001c0009t0007g0057 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1098+4738C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203089307 | ||||||
| chr2:203089374
|
G | A | 2 | a0006c0011t0017g0018a0020c0017t0017g0017 | 2 | HG03225.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.1098+4805G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203089374 | ||||||
| chr2:203089380
|
C | G | 2 | a0006c0011t0017g0018a0020c0017t0017g0017 | 2 | HG03225.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.1098+4811C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203089380 | ||||||
| chr2:203089449
|
A | G | 23 | a0003c0003t0004g0024a0003c0003t0004g0026a0003c0003t0004g0027others(20): Show | 23 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(20): Show |
intron_variant | MODIFIER | c.1098+4880A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203089449 | ||||||
| chr2:203089640
|
A | G | 1 | a0018c0018t0022g0022 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1098+5071A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203089640 | ||||||
| chr2:203090219
|
A | T | 1 | a0020c0017t0017g0017 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1098+5650A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203090219 | ||||||
| chr2:203090310
|
T | C | 1 | a0001c0001t0024g0016 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1098+5741T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203090310 | ||||||
| chr2:203090550
|
T | C | 103 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(100): Show | 103 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(100): Show |
intron_variant | MODIFIER | c.1098+5981T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203090550 | ||||||
| chr2:203090725
|
A | G | 1 | a0010c0015t0001g0214 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.1098+6156A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203090725 | ||||||
| chr2:203090753
|
G | A | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1098+6184G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203090753 | ||||||
| chr2:203090756
|
G | T | 1 | a0001c0001t0001g0001 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.1098+6187G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203090756 | ||||||
| chr2:203090953
|
GAGAAAGG others(6): Show |
G | 1 | a0001c0001t0002g0149 | 1 | NA19078.hp2 | intron_variant | MODIFIER | c.1098+6399_1098+641 others(17): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | INFO_REALIGN_3_PRIME | chr2 | 203090953 | |||||
| chr2:203091192
|
A | G | 1 | a0001c0001t0002g0135 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.1099-6355A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203091192 | ||||||
| chr2:203091204
|
T | C | 22 | a0003c0003t0004g0024a0003c0003t0004g0026a0003c0003t0004g0027others(19): Show | 22 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(19): Show |
intron_variant | MODIFIER | c.1099-6343T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203091204 | ||||||
| chr2:203091283
|
G | A | 1 | a0001c0001t0001g0258 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.1099-6264G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203091283 | ||||||
| chr2:203091416
|
G | A | 264 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(261): Show | 264 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(261): Show |
intron_variant | MODIFIER | c.1099-6131G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203091416 | ||||||
| chr2:203091525
|
T | C | 1 | a0002c0002t0003g0061 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.1099-6022T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203091525 | ||||||
| chr2:203091823
|
T | C | 1 | a0001c0001t0002g0158 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.1099-5724T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203091823 | ||||||
| chr2:203091962
|
A | G | 1 | a0001c0001t0006g0228 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.1099-5585A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203091962 | ||||||
| chr2:203092195
|
C | G | 2 | a0001c0001t0001g0235a0001c0001t0001g0245 | 2 | NA18969.hp2 NA18980.hp2 |
intron_variant | MODIFIER | c.1099-5352C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203092195 | ||||||
| chr2:203092361
|
C | G | 2 | a0006c0011t0017g0018a0020c0017t0017g0017 | 2 | HG03225.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.1099-5186C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203092361 | ||||||
| chr2:203092399
|
C | CA | 9 | a0001c0001t0001g0003a0001c0001t0001g0014a0001c0001t0001g0212others(6): Show | 9 | HG00323.hp2 HG01168.hp2 HG01175.hp1 others(6): Show |
intron_variant | MODIFIER | c.1099-5132dupA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | INFO_REALIGN_3_PRIME | chr2 | 203092399 | |||||
| chr2:203092435
|
C | T | 2 | a0006c0011t0017g0018a0020c0017t0017g0017 | 2 | HG03225.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.1099-5112C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203092435 | ||||||
| chr2:203092635
|
A | G | 1 | a0001c0001t0001g0261 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1099-4912A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203092635 | ||||||
| chr2:203092662
|
C | G | 19 | a0003c0003t0004g0024a0003c0003t0004g0026a0003c0003t0004g0027others(16): Show | 19 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(16): Show |
intron_variant | MODIFIER | c.1099-4885C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203092662 | ||||||
| chr2:203092780
|
A | T | 1 | a0017c0025t0003g0047 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.1099-4767A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203092780 | ||||||
| chr2:203093060
|
G | A | 1 | a0002c0002t0003g0061 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.1099-4487G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203093060 | ||||||
| chr2:203093125
|
G | T | 2 | a0001c0001t0014g0019a0001c0001t0014g0260 | 2 | HG02486.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.1099-4422G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203093125 | ||||||
| chr2:203093230
|
TA | T | 64 | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0014others(61): Show | 64 | HG00423.hp2 HG00597.hp2 HG00609.hp2 others(61): Show |
intron_variant | MODIFIER | c.1099-4289delA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | INFO_REALIGN_3_PRIME | chr2 | 203093230 | |||||
| chr2:203093230
|
TAA | T | 67 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(64): Show | 67 | HG00323.hp2 HG00408.hp2 HG00438.hp2 others(64): Show |
intron_variant | MODIFIER | c.1099-4290_1099-428 others(6): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | INFO_REALIGN_3_PRIME | chr2 | 203093230 | |||||
| chr2:203093230
|
TAAA | T | 147 | a0001c0001t0001g0215a0001c0001t0001g0216a0001c0001t0001g0217others(144): Show | 147 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(144): Show |
intron_variant | MODIFIER | c.1099-4291_1099-428 others(7): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | INFO_REALIGN_3_PRIME | chr2 | 203093230 | |||||
| chr2:203093230
|
TAAAAAAA others(10): Show |
T | 7 | a0001c0001t0001g0020a0001c0001t0001g0188a0001c0001t0001g0261others(4): Show | 7 | HG02486.hp1 HG02630.hp2 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.1099-4305_1099-428 others(21): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | INFO_REALIGN_3_PRIME | chr2 | 203093230 | |||||
| chr2:203093233
|
A | T | 1 | a0003c0003t0004g0037 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1099-4314A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203093233 | ||||||
| chr2:203093258
|
A | G | 10 | a0001c0001t0001g0020a0001c0001t0001g0188a0001c0001t0001g0231others(7): Show | 10 | HG02486.hp1 HG02630.hp2 HG02818.hp1 others(7): Show |
intron_variant | MODIFIER | c.1099-4289A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203093258 | ||||||
| chr2:203093305
|
T | C | 1 | a0002c0002t0026g0094 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.1099-4242T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203093305 | ||||||
| chr2:203093317
|
G | A | 1 | a0001c0001t0002g0129 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1099-4230G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203093317 | ||||||
| chr2:203093418
|
G | A | 1 | a0001c0001t0029g0236 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.1099-4129G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203093418 | ||||||
| chr2:203093547
|
A | G | 3 | a0001c0001t0001g0243a0001c0001t0001g0244a0001c0001t0001g0287 | 3 | NA18970.hp2 NA18991.hp1 NA19009.hp2 |
intron_variant | MODIFIER | c.1099-4000A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203093547 | ||||||
| chr2:203093704
|
A | C | 1 | a0011c0029t0028g0095 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.1099-3843A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203093704 | ||||||
| chr2:203093840
|
G | T | 22 | a0003c0003t0004g0024a0003c0003t0004g0026a0003c0003t0004g0027others(19): Show | 22 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(19): Show |
intron_variant | MODIFIER | c.1099-3707G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203093840 | ||||||
| chr2:203093909
|
G | A | 1 | a0001c0001t0001g0052 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1099-3638G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203093909 | ||||||
| chr2:203094358
|
A | C | 1 | a0001c0001t0002g0111 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.1099-3189A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203094358 | ||||||
| chr2:203094375
|
G | A | 1 | a0006c0011t0045g0023 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1099-3172G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203094375 | ||||||
| chr2:203094597
|
T | G | 2 | a0001c0004t0005g0275a0001c0004t0005g0276 | 2 | HG01516.hp2 HG01517.hp1 |
intron_variant | MODIFIER | c.1099-2950T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203094597 | ||||||
| chr2:203094605
|
T | C | 1 | a0001c0001t0002g0138 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.1099-2942T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203094605 | ||||||
| chr2:203094614
|
A | G | 110 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(107): Show | 110 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(107): Show |
intron_variant | MODIFIER | c.1099-2933A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203094614 | ||||||
| chr2:203094738
|
G | A | 2 | a0001c0001t0001g0269a0001c0001t0001g0270 | 2 | HG03490.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.1099-2809G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203094738 | ||||||
| chr2:203094847
|
C | T | 254 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(251): Show | 254 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(251): Show |
intron_variant | MODIFIER | c.1099-2700C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203094847 | ||||||
| chr2:203094941
|
G | A | 1 | a0001c0001t0002g0178 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.1099-2606G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203094941 | ||||||
| chr2:203094985
|
G | A | 1 | a0001c0001t0024g0016 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1099-2562G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203094985 | ||||||
| chr2:203095287
|
A | ATTGT | 6 | a0002c0002t0003g0046a0002c0002t0003g0048a0002c0002t0003g0049others(3): Show | 6 | HG02145.hp2 HG02451.hp2 HG02717.hp1 others(3): Show |
intron_variant | MODIFIER | c.1099-2241_1099-223 others(8): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | INFO_REALIGN_3_PRIME | chr2 | 203095287 | |||||
| chr2:203095412
|
A | G | 1 | a0001c0001t0002g0291 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.1099-2135A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203095412 | ||||||
| chr2:203095760
|
T | A | 1 | a0001c0001t0002g0182 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.1099-1787T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203095760 | ||||||
| chr2:203095767
|
T | G | 1 | a0001c0001t0002g0182 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.1099-1780T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203095767 | ||||||
| chr2:203095864
|
C | G | 109 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(106): Show | 109 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(106): Show |
intron_variant | MODIFIER | c.1099-1683C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203095864 | ||||||
| chr2:203095898
|
A | G | 1 | a0002c0002t0003g0021 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1099-1649A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203095898 | ||||||
| chr2:203096223
|
C | T | 256 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(253): Show | 256 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(253): Show |
intron_variant | MODIFIER | c.1099-1324C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203096223 | ||||||
| chr2:203096646
|
T | C | 1 | a0018c0018t0022g0022 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1099-901T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203096646 | ||||||
| chr2:203096746
|
C | A | 1 | a0001c0001t0024g0016 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1099-801C>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203096746 | ||||||
| chr2:203096963
|
A | G | 1 | a0001c0001t0002g0112 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.1099-584A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203096963 | ||||||
| chr2:203097006
|
C | A | 2 | a0002c0002t0025g0075a0015c0021t0003g0074 | 2 | HG02257.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.1099-541C>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203097006 | ||||||
| chr2:203097113
|
T | C | 1 | a0001c0001t0002g0117 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.1099-434T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203097113 | ||||||
| chr2:203097140
|
T | A | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1099-407T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203097140 | ||||||
| chr2:203097168
|
G | A | 1 | a0018c0018t0022g0022 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1099-379G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203097168 | ||||||
| chr2:203097307
|
A | G | 98 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(95): Show | 98 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(95): Show |
intron_variant | MODIFIER | c.1099-240A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203097307 | ||||||
| chr2:203097369
|
C | G | 112 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(109): Show | 112 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(109): Show |
intron_variant | MODIFIER | c.1099-178C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203097369 | ||||||
| chr2:203097423
|
T | C | 98 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(95): Show | 98 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(95): Show |
intron_variant | MODIFIER | c.1099-124T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203097423 | ||||||
| chr2:203097530
|
G | A | 1 | a0001c0001t0014g0260 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.1099-17G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 10/55 | chr2 | 203097530 | ||||||
| chr2:203097749
|
A | G | 1 | a0002c0002t0003g0061 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.1185+116A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 11/55 | chr2 | 203097749 | ||||||
| chr2:203097802
|
T | C | 2 | a0001c0001t0023g0045a0001c0001t0024g0016 | 2 | HG01884.hp2 HG02055.hp2 |
intron_variant | MODIFIER | c.1185+169T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 11/55 | chr2 | 203097802 | ||||||
| chr2:203097828
|
T | C | 6 | a0001c0001t0002g0098a0001c0001t0002g0107a0001c0001t0002g0116others(3): Show | 6 | HG00438.hp2 HG00609.hp1 HG02080.hp2 others(3): Show |
intron_variant | MODIFIER | c.1185+195T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 11/55 | chr2 | 203097828 | ||||||
| chr2:203097928
|
C | T | 2 | a0006c0011t0017g0018a0020c0017t0017g0017 | 2 | HG03225.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.1185+295C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 11/55 | chr2 | 203097928 | ||||||
| chr2:203098247
|
C | T | 1 | a0015c0021t0003g0074 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1185+614C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 11/55 | chr2 | 203098247 | ||||||
| chr2:203098427
|
A | G | 1 | a0001c0001t0005g0283 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.1185+794A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 11/55 | chr2 | 203098427 | ||||||
| chr2:203099005
|
T | C | 2 | a0001c0001t0014g0019a0001c0001t0014g0260 | 2 | HG02486.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.1186-624T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 11/55 | chr2 | 203099005 | ||||||
| chr2:203099041
|
G | A | 1 | a0001c0001t0001g0268 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.1186-588G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 11/55 | chr2 | 203099041 | ||||||
| chr2:203099224
|
C | T | 1 | a0001c0007t0002g0059 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1186-405C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 11/55 | chr2 | 203099224 | ||||||
| chr2:203099302
|
A | T | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1186-327A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 11/55 | chr2 | 203099302 | ||||||
| chr2:203099414
|
T | C | 129 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(126): Show | 129 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(126): Show |
intron_variant | MODIFIER | c.1186-215T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 11/55 | chr2 | 203099414 | ||||||
| chr2:203099935
|
C | T | 1 | a0001c0001t0024g0016 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1269+223C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | chr2 | 203099935 | ||||||
| chr2:203099993
|
G | A | 1 | a0001c0001t0034g0058 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.1269+281G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | chr2 | 203099993 | ||||||
| chr2:203100548
|
C | CT | 98 | a0001c0001t0001g0186a0001c0001t0002g0079a0001c0001t0002g0087others(95): Show | 98 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(95): Show |
intron_variant | MODIFIER | c.1269+851dupT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | INFO_REALIGN_3_PRIME | chr2 | 203100548 | |||||
| chr2:203100552
|
T | C | 1 | a0010c0015t0001g0214 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.1269+840T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | chr2 | 203100552 | ||||||
| chr2:203100602
|
A | G | 1 | a0001c0001t0024g0016 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1269+890A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | chr2 | 203100602 | ||||||
| chr2:203100632
|
C | T | 2 | a0003c0003t0010g0041a0003c0003t0010g0044 | 2 | HG02895.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.1269+920C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | chr2 | 203100632 | ||||||
| chr2:203100665
|
G | A | 3 | a0001c0001t0004g0081a0002c0002t0003g0078a0002c0002t0003g0082 | 3 | HG02970.hp1 NA18906.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.1269+953G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | chr2 | 203100665 | ||||||
| chr2:203100800
|
G | A | 1 | a0022c0032t0001g0246 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.1269+1088G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | chr2 | 203100800 | ||||||
| chr2:203100807
|
A | G | 260 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(257): Show | 260 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(257): Show |
intron_variant | MODIFIER | c.1269+1095A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | chr2 | 203100807 | ||||||
| chr2:203100981
|
A | G | 1 | a0014c0026t0001g0191 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.1269+1269A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | chr2 | 203100981 | ||||||
| chr2:203102086
|
G | A | 3 | a0001c0009t0007g0055a0001c0009t0007g0056a0001c0009t0007g0057 | 3 | HG02976.hp1 HG03139.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.1269+2374G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | chr2 | 203102086 | ||||||
| chr2:203102118
|
G | T | 1 | a0001c0001t0002g0156 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.1269+2406G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | chr2 | 203102118 | ||||||
| chr2:203102474
|
A | G | 13 | a0001c0001t0005g0277a0001c0001t0005g0283a0001c0001t0019g0279others(10): Show | 13 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.1269+2762A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | chr2 | 203102474 | ||||||
| chr2:203102787
|
G | T | 254 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(251): Show | 254 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(251): Show |
intron_variant | MODIFIER | c.1269+3075G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | chr2 | 203102787 | ||||||
| chr2:203103259
|
A | G | 6 | a0001c0001t0002g0129a0005c0006t0002g0100a0005c0006t0002g0160others(3): Show | 6 | HG00735.hp2 HG00741.hp2 HG03453.hp1 others(3): Show |
intron_variant | MODIFIER | c.1269+3547A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | chr2 | 203103259 | ||||||
| chr2:203103334
|
C | T | 2 | a0001c0001t0001g0051a0001c0001t0001g0052 | 2 | HG02258.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1269+3622C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | chr2 | 203103334 | ||||||
| chr2:203103366
|
C | T | 1 | a0001c0001t0002g0129 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1269+3654C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | chr2 | 203103366 | ||||||
| chr2:203103642
|
T | TGCTA | 4 | a0001c0007t0002g0059a0001c0007t0002g0090a0001c0007t0002g0091others(1): Show | 4 | HG02145.hp1 HG02257.hp1 HG02622.hp1 others(1): Show |
intron_variant | MODIFIER | c.1270-3774_1270-377 others(8): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | INFO_REALIGN_3_PRIME | chr2 | 203103642 | |||||
| chr2:203103757
|
C | T | 3 | a0001c0004t0005g0275a0001c0004t0005g0276a0001c0004t0005g0278 | 3 | HG01167.hp1 HG01516.hp2 HG01517.hp1 |
intron_variant | MODIFIER | c.1270-3663C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | chr2 | 203103757 | ||||||
| chr2:203104230
|
G | C | 2 | a0001c0001t0002g0167a0001c0001t0002g0168 | 2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.1270-3190G>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | chr2 | 203104230 | ||||||
| chr2:203104250
|
T | C | 8 | a0001c0004t0005g0273a0001c0004t0005g0274a0001c0004t0005g0275others(5): Show | 8 | HG00735.hp1 HG01099.hp1 HG01167.hp1 others(5): Show |
intron_variant | MODIFIER | c.1270-3170T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | chr2 | 203104250 | ||||||
| chr2:203104386
|
G | C | 2 | a0003c0012t0011g0025a0003c0012t0011g0043 | 2 | HG02559.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1270-3034G>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | chr2 | 203104386 | ||||||
| chr2:203104424
|
A | G | 1 | a0003c0012t0011g0043 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1270-2996A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | chr2 | 203104424 | ||||||
| chr2:203104538
|
A | ATTCAAGG others(9): Show |
1 | a0001c0001t0038g0002 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.1270-2867_1270-286 others(20): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | INFO_REALIGN_3_PRIME | chr2 | 203104538 | |||||
| chr2:203104713
|
C | T | 252 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(249): Show | 252 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(249): Show |
intron_variant | MODIFIER | c.1270-2707C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | chr2 | 203104713 | ||||||
| chr2:203104781
|
G | A | 13 | a0001c0001t0005g0277a0001c0001t0005g0283a0001c0001t0019g0279others(10): Show | 13 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.1270-2639G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | chr2 | 203104781 | ||||||
| chr2:203104841
|
T | C | 4 | a0002c0002t0003g0083a0002c0002t0003g0084a0002c0002t0003g0085others(1): Show | 4 | HG02630.hp1 HG02723.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.1270-2579T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | chr2 | 203104841 | ||||||
| chr2:203104864
|
T | C | 1 | a0001c0001t0002g0166 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.1270-2556T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | chr2 | 203104864 | ||||||
| chr2:203104867
|
C | T | 1 | a0001c0001t0002g0166 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.1270-2553C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | chr2 | 203104867 | ||||||
| chr2:203104868
|
T | C | 1 | a0001c0001t0002g0166 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.1270-2552T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | chr2 | 203104868 | ||||||
| chr2:203105102
|
C | T | 1 | a0001c0001t0001g0266 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.1270-2318C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | chr2 | 203105102 | ||||||
| chr2:203105120
|
G | T | 1 | a0002c0002t0003g0061 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.1270-2300G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | chr2 | 203105120 | ||||||
| chr2:203105183
|
A | T | 2 | a0006c0011t0017g0018a0020c0017t0017g0017 | 2 | HG03225.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.1270-2237A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | chr2 | 203105183 | ||||||
| chr2:203105195
|
G | A | 22 | a0003c0003t0004g0024a0003c0003t0004g0026a0003c0003t0004g0027others(19): Show | 22 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(19): Show |
intron_variant | MODIFIER | c.1270-2225G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | chr2 | 203105195 | ||||||
| chr2:203105268
|
G | C | 2 | a0001c0001t0023g0045a0001c0001t0024g0016 | 2 | HG01884.hp2 HG02055.hp2 |
intron_variant | MODIFIER | c.1270-2152G>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | chr2 | 203105268 | ||||||
| chr2:203105275
|
A | T | 1 | a0001c0001t0002g0166 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.1270-2145A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | chr2 | 203105275 | ||||||
| chr2:203105334
|
C | T | 6 | a0001c0001t0002g0103a0001c0001t0002g0119a0001c0001t0002g0120others(3): Show | 6 | NA18940.hp2 NA18946.hp1 NA18951.hp1 others(3): Show |
intron_variant | MODIFIER | c.1270-2086C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | chr2 | 203105334 | ||||||
| chr2:203105405
|
G | A | 1 | a0001c0001t0019g0279 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.1270-2015G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | chr2 | 203105405 | ||||||
| chr2:203105560
|
A | G | 129 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(126): Show | 129 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(126): Show |
intron_variant | MODIFIER | c.1270-1860A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | chr2 | 203105560 | ||||||
| chr2:203105855
|
A | G | 1 | a0002c0002t0003g0066 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.1270-1565A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | chr2 | 203105855 | ||||||
| chr2:203105888
|
A | G | 1 | a0002c0002t0003g0078 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1270-1532A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | chr2 | 203105888 | ||||||
| chr2:203105960
|
A | G | 22 | a0003c0003t0004g0024a0003c0003t0004g0026a0003c0003t0004g0027others(19): Show | 22 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(19): Show |
intron_variant | MODIFIER | c.1270-1460A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | chr2 | 203105960 | ||||||
| chr2:203106327
|
C | T | 1 | a0002c0002t0008g0088 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1270-1093C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | chr2 | 203106327 | ||||||
| chr2:203106364
|
G | A | 107 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(104): Show | 107 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(104): Show |
intron_variant | MODIFIER | c.1270-1056G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | chr2 | 203106364 | ||||||
| chr2:203106607
|
T | G | 1 | a0001c0001t0001g0185 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.1270-813T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | chr2 | 203106607 | ||||||
| chr2:203106704
|
C | A | 1 | a0001c0001t0039g0223 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.1270-716C>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | chr2 | 203106704 | ||||||
| chr2:203106996
|
A | G | 2 | a0001c0001t0001g0215a0001c0001t0001g0217 | 2 | HG02723.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.1270-424A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 12/55 | chr2 | 203106996 | ||||||
| chr2:203108251
|
A | G | 1 | a0016c0022t0001g0190 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1949+63A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 14/55 | chr2 | 203108251 | ||||||
| chr2:203108396
|
GT | G | 249 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(246): Show | 249 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(246): Show |
intron_variant | MODIFIER | c.1949+220delT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 14/55 | INFO_REALIGN_3_PRIME | chr2 | 203108396 | |||||
| chr2:203108408
|
T | G | 1 | a0001c0001t0002g0149 | 1 | NA19078.hp2 | intron_variant | MODIFIER | c.1949+220T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 14/55 | chr2 | 203108408 | ||||||
| chr2:203108409
|
G | T | 1 | a0001c0001t0002g0149 | 1 | NA19078.hp2 | intron_variant | MODIFIER | c.1949+221G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 14/55 | chr2 | 203108409 | ||||||
| chr2:203108655
|
G | A | 2 | a0001c0001t0001g0006a0001c0001t0038g0002 | 2 | HG00544.hp2 NA18998.hp2 |
intron_variant | MODIFIER | c.1949+467G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 14/55 | chr2 | 203108655 | ||||||
| chr2:203108693
|
G | A | 1 | a0002c0002t0025g0075 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.1949+505G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 14/55 | chr2 | 203108693 | ||||||
| chr2:203109078
|
C | T | 2 | a0001c0007t0002g0090a0001c0007t0002g0091 | 2 | HG02257.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.1949+890C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 14/55 | chr2 | 203109078 | ||||||
| chr2:203109537
|
TAGAC | T | 5 | a0002c0002t0003g0046a0002c0002t0003g0048a0002c0002t0003g0049others(2): Show | 5 | HG02145.hp2 HG02451.hp2 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.1950-609_1950-606d others(6): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 14/55 | INFO_REALIGN_3_PRIME | chr2 | 203109537 | |||||
| chr2:203109677
|
G | A | 1 | a0001c0004t0005g0284 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.1950-473G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 14/55 | chr2 | 203109677 | ||||||
| chr2:203109718
|
C | T | 7 | a0001c0001t0001g0020a0001c0001t0001g0188a0001c0001t0001g0261others(4): Show | 7 | HG02486.hp1 HG02630.hp2 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.1950-432C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 14/55 | chr2 | 203109718 | ||||||
| chr2:203109788
|
A | G | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1950-362A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 14/55 | chr2 | 203109788 | ||||||
| chr2:203109813
|
C | T | 2 | a0006c0011t0017g0018a0020c0017t0017g0017 | 2 | HG03225.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.1950-337C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 14/55 | chr2 | 203109813 | ||||||
| chr2:203110068
|
G | A | 3 | a0001c0009t0007g0055a0001c0009t0007g0056a0001c0009t0007g0057 | 3 | HG02976.hp1 HG03139.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.1950-82G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 14/55 | chr2 | 203110068 | ||||||
| chr2:203110090
|
T | C | 1 | a0001c0001t0002g0108 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.1950-60T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 14/55 | chr2 | 203110090 | ||||||
| chr2:203110137
|
G | A | 1 | a0004c0005t0009g0170 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.1950-13G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 14/55 | chr2 | 203110137 | ||||||
| chr2:203110674
|
A | AAAAT | 91 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(88): Show | 91 | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(88): Show |
intron_variant | MODIFIER | c.2082+430_2082+433d others(6): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 15/55 | INFO_REALIGN_3_PRIME | chr2 | 203110674 | |||||
| chr2:203110674
|
A | AAAATAAA others(1): Show |
93 | a0001c0001t0001g0177a0001c0001t0001g0186a0001c0001t0001g0193others(90): Show | 93 | HG00323.hp2 HG00423.hp1 HG00423.hp2 others(90): Show |
intron_variant | MODIFIER | c.2082+426_2082+433d others(10): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 15/55 | INFO_REALIGN_3_PRIME | chr2 | 203110674 | |||||
| chr2:203110674
|
A | AAAATAAA others(5): Show |
31 | a0001c0001t0001g0051a0001c0001t0001g0052a0001c0001t0001g0188others(28): Show | 31 | HG00323.hp1 HG00597.hp2 HG00609.hp2 others(28): Show |
intron_variant | MODIFIER | c.2082+422_2082+433d others(14): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 15/55 | INFO_REALIGN_3_PRIME | chr2 | 203110674 | |||||
| chr2:203110674
|
A | AAAATAAA others(9): Show |
5 | a0001c0001t0001g0185a0001c0001t0001g0211a0001c0001t0001g0220others(2): Show | 5 | HG01081.hp1 HG01192.hp1 HG02145.hp2 others(2): Show |
intron_variant | MODIFIER | c.2082+418_2082+433d others(18): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 15/55 | INFO_REALIGN_3_PRIME | chr2 | 203110674 | |||||
| chr2:203110674
|
A | AAAATAAA others(13): Show |
1 | a0001c0001t0001g0215 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.2082+414_2082+433d others(22): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 15/55 | INFO_REALIGN_3_PRIME | chr2 | 203110674 | |||||
| chr2:203110674
|
AAAAT | A | 24 | a0001c0001t0001g0009a0001c0001t0023g0045a0003c0003t0004g0024others(21): Show | 24 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(21): Show |
intron_variant | MODIFIER | c.2082+430_2082+433d others(6): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 15/55 | INFO_REALIGN_3_PRIME | chr2 | 203110674 | |||||
| chr2:203110674
|
AAAATAAA others(1): Show |
A | 3 | a0001c0001t0001g0013a0001c0001t0002g0146a0001c0001t0002g0150 | 3 | HG03942.hp2 HG04228.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.2082+426_2082+433d others(10): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 15/55 | INFO_REALIGN_3_PRIME | chr2 | 203110674 | |||||
| chr2:203110716
|
T | A | 3 | a0001c0001t0005g0283a0001c0001t0014g0019a0001c0001t0024g0016 | 3 | HG00438.hp1 HG02055.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.2082+434T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 15/55 | chr2 | 203110716 | ||||||
| chr2:203110723
|
C | T | 291 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(288): Show | 291 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(288): Show |
intron_variant | MODIFIER | c.2082+441C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 15/55 | chr2 | 203110723 | ||||||
| chr2:203110767
|
C | CT | 217 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(214): Show | 217 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(214): Show |
intron_variant | MODIFIER | c.2082+502dupT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 15/55 | INFO_REALIGN_3_PRIME | chr2 | 203110767 | |||||
| chr2:203110767
|
C | CTT | 37 | a0001c0001t0001g0009a0001c0001t0001g0200a0001c0001t0005g0277others(34): Show | 37 | HG00438.hp1 HG00733.hp1 HG00735.hp1 others(34): Show |
intron_variant | MODIFIER | c.2082+501_2082+502d others(4): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 15/55 | INFO_REALIGN_3_PRIME | chr2 | 203110767 | |||||
| chr2:203110811
|
T | G | 98 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(95): Show | 98 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(95): Show |
intron_variant | MODIFIER | c.2082+529T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 15/55 | chr2 | 203110811 | ||||||
| chr2:203111151
|
G | A | 110 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(107): Show | 110 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(107): Show |
intron_variant | MODIFIER | c.2083-828G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 15/55 | chr2 | 203111151 | ||||||
| chr2:203111235
|
G | T | 13 | a0001c0001t0005g0277a0001c0001t0005g0283a0001c0001t0019g0279others(10): Show | 13 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.2083-744G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 15/55 | chr2 | 203111235 | ||||||
| chr2:203111368
|
T | G | 1 | a0001c0001t0002g0142 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.2083-611T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 15/55 | chr2 | 203111368 | ||||||
| chr2:203111403
|
G | C | 6 | a0001c0001t0004g0081a0002c0002t0003g0078a0002c0002t0003g0082others(3): Show | 6 | HG02293.hp1 HG02886.hp1 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.2083-576G>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 15/55 | chr2 | 203111403 | ||||||
| chr2:203111531
|
C | T | 1 | a0018c0018t0022g0022 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.2083-448C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 15/55 | chr2 | 203111531 | ||||||
| chr2:203111575
|
T | A | 1 | a0001c0001t0040g0012 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.2083-404T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 15/55 | chr2 | 203111575 | ||||||
| chr2:203111605
|
G | T | 1 | a0001c0009t0007g0055 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.2083-374G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 15/55 | chr2 | 203111605 | ||||||
| chr2:203111716
|
T | C | 3 | a0001c0001t0001g0243a0001c0001t0001g0244a0001c0001t0001g0287 | 3 | NA18970.hp2 NA18991.hp1 NA19009.hp2 |
intron_variant | MODIFIER | c.2083-263T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 15/55 | chr2 | 203111716 | ||||||
| chr2:203111944
|
A | G | 1 | a0010c0015t0001g0214 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.2083-35A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 15/55 | chr2 | 203111944 | ||||||
| chr2:203112133
|
T | C | 1 | a0013c0027t0007g0053 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2202+35T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 16/55 | chr2 | 203112133 | ||||||
| chr2:203112159
|
A | G | 3 | a0002c0002t0003g0068a0002c0002t0003g0071a0002c0002t0021g0072 | 3 | NA18968.hp2 NA18969.hp1 NA19084.hp2 |
intron_variant | MODIFIER | c.2202+61A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 16/55 | chr2 | 203112159 | ||||||
| chr2:203112371
|
G | A | 1 | a0010c0015t0001g0214 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.2202+273G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 16/55 | chr2 | 203112371 | ||||||
| chr2:203112436
|
T | C | 1 | a0001c0001t0002g0182 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.2202+338T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 16/55 | chr2 | 203112436 | ||||||
| chr2:203112614
|
A | G | 1 | a0001c0001t0001g0262 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.2203-401A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 16/55 | chr2 | 203112614 | ||||||
| chr2:203112622
|
T | C | 1 | a0001c0001t0018g0145 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.2203-393T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 16/55 | chr2 | 203112622 | ||||||
| chr2:203112792
|
A | T | 2 | a0001c0001t0001g0051a0001c0001t0001g0052 | 2 | HG02258.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.2203-223A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 16/55 | chr2 | 203112792 | ||||||
| chr2:203112845
|
G | A | 1 | a0001c0001t0001g0010 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.2203-170G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 16/55 | chr2 | 203112845 | ||||||
| chr2:203113358
|
T | G | 2 | a0002c0014t0003g0076a0019c0013t0003g0077 | 2 | HG03130.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.2506+40T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 17/55 | chr2 | 203113358 | ||||||
| chr2:203113361
|
T | A | 2 | a0001c0001t0023g0045a0001c0001t0024g0016 | 2 | HG01884.hp2 HG02055.hp2 |
intron_variant | MODIFIER | c.2506+43T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 17/55 | chr2 | 203113361 | ||||||
| chr2:203113821
|
CT | C | 228 | a0001c0001t0001g0020a0001c0001t0001g0051a0001c0001t0001g0052others(225): Show | 228 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(225): Show |
intron_variant | MODIFIER | c.2506+521delT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 17/55 | INFO_REALIGN_3_PRIME | chr2 | 203113821 | |||||
| chr2:203113971
|
G | A | 251 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(248): Show | 251 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(248): Show |
intron_variant | MODIFIER | c.2506+653G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 17/55 | chr2 | 203113971 | ||||||
| chr2:203113981
|
C | T | 251 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(248): Show | 251 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(248): Show |
intron_variant | MODIFIER | c.2506+663C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 17/55 | chr2 | 203113981 | ||||||
| chr2:203114064
|
C | T | 3 | a0001c0001t0002g0137a0006c0011t0017g0018a0020c0017t0017g0017 | 3 | HG00408.hp1 HG03225.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.2506+746C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 17/55 | chr2 | 203114064 | ||||||
| chr2:203114065
|
G | T | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.2506+747G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 17/55 | chr2 | 203114065 | ||||||
| chr2:203114152
|
C | G | 2 | a0001c0001t0001g0269a0001c0001t0001g0270 | 2 | HG03490.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.2506+834C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 17/55 | chr2 | 203114152 | ||||||
| chr2:203114298
|
T | C | 2 | a0001c0001t0001g0051a0001c0001t0001g0052 | 2 | HG02258.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.2506+980T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 17/55 | chr2 | 203114298 | ||||||
| chr2:203114755
|
G | T | 6 | a0001c0001t0004g0081a0002c0002t0003g0078a0002c0002t0003g0082others(3): Show | 6 | HG02293.hp1 HG02886.hp1 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.2507-1230G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 17/55 | chr2 | 203114755 | ||||||
| chr2:203114855
|
GTT | G | 102 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(99): Show | 102 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(99): Show |
intron_variant | MODIFIER | c.2507-1128_2507-112 others(6): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 17/55 | INFO_REALIGN_3_PRIME | chr2 | 203114855 | |||||
| chr2:203114932
|
A | G | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.2507-1053A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 17/55 | chr2 | 203114932 | ||||||
| chr2:203115076
|
A | T | 1 | a0018c0018t0022g0022 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.2507-909A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 17/55 | chr2 | 203115076 | ||||||
| chr2:203115130
|
CT | C | 7 | a0001c0001t0001g0245a0001c0004t0005g0278a0002c0002t0003g0046others(4): Show | 7 | HG01167.hp1 HG02145.hp2 HG02451.hp2 others(4): Show |
intron_variant | MODIFIER | c.2507-840delT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 17/55 | INFO_REALIGN_3_PRIME | chr2 | 203115130 | |||||
| chr2:203115231
|
G | A | 2 | a0001c0001t0004g0081a0002c0002t0003g0078 | 2 | NA18906.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.2507-754G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 17/55 | chr2 | 203115231 | ||||||
| chr2:203115310
|
G | A | 13 | a0001c0001t0005g0277a0001c0001t0005g0283a0001c0001t0019g0279others(10): Show | 13 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.2507-675G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 17/55 | chr2 | 203115310 | ||||||
| chr2:203115341
|
C | G | 3 | a0001c0001t0034g0058a0002c0002t0025g0075a0015c0021t0003g0074 | 3 | HG02257.hp2 HG02622.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.2507-644C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 17/55 | chr2 | 203115341 | ||||||
| chr2:203115382
|
T | C | 253 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(250): Show | 253 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(250): Show |
intron_variant | MODIFIER | c.2507-603T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 17/55 | chr2 | 203115382 | ||||||
| chr2:203115474
|
T | A | 74 | a0001c0001t0001g0020a0001c0001t0001g0177a0001c0001t0001g0185others(71): Show | 74 | HG00323.hp2 HG00423.hp2 HG00597.hp2 others(71): Show |
intron_variant | MODIFIER | c.2507-511T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 17/55 | chr2 | 203115474 | ||||||
| chr2:203115524
|
C | T | 1 | a0001c0001t0024g0016 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2507-461C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 17/55 | chr2 | 203115524 | ||||||
| chr2:203116319
|
G | A | 1 | a0001c0001t0002g0290 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.2592+249G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203116319 | ||||||
| chr2:203116502
|
C | CAGTGGCT others(46): Show |
1 | a0001c0004t0005g0278 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.2592+435_2592+487d others(55): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | INFO_REALIGN_3_PRIME | chr2 | 203116502 | |||||
| chr2:203116550
|
C | T | 1 | a0001c0001t0002g0166 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.2592+480C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203116550 | ||||||
| chr2:203116617
|
T | C | 3 | a0004c0005t0002g0173a0004c0005t0002g0174a0004c0005t0002g0175 | 3 | NA18998.hp1 NA19057.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.2592+547T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203116617 | ||||||
| chr2:203116620
|
A | G | 6 | a0001c0001t0001g0189a0001c0001t0001g0213a0001c0001t0001g0224others(3): Show | 6 | HG02523.hp1 NA18949.hp1 NA18974.hp2 others(3): Show |
intron_variant | MODIFIER | c.2592+550A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203116620 | ||||||
| chr2:203116627
|
C | CA | 6 | a0001c0001t0001g0001a0001c0001t0002g0166a0001c0001t0023g0045others(3): Show | 6 | HG01109.hp2 HG01884.hp2 HG01943.hp2 others(3): Show |
intron_variant | MODIFIER | c.2592+571dupA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | INFO_REALIGN_3_PRIME | chr2 | 203116627 | |||||
| chr2:203116627
|
C | CAA | 27 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(24): Show | 27 | HG00408.hp2 HG00544.hp2 HG00597.hp2 others(24): Show |
intron_variant | MODIFIER | c.2592+570_2592+571d others(4): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | INFO_REALIGN_3_PRIME | chr2 | 203116627 | |||||
| chr2:203116627
|
C | CAAA | 98 | a0001c0001t0001g0003a0001c0001t0001g0020a0001c0001t0001g0177others(95): Show | 98 | HG00323.hp2 HG00423.hp2 HG00438.hp1 others(95): Show |
intron_variant | MODIFIER | c.2592+569_2592+571d others(5): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | INFO_REALIGN_3_PRIME | chr2 | 203116627 | |||||
| chr2:203116708
|
T | A | 1 | a0001c0001t0024g0016 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2592+638T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203116708 | ||||||
| chr2:203116789
|
C | CA | 98 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(95): Show | 98 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(95): Show |
intron_variant | MODIFIER | c.2592+737dupA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | INFO_REALIGN_3_PRIME | chr2 | 203116789 | |||||
| chr2:203116789
|
C | CAA | 20 | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0014others(17): Show | 20 | HG00741.hp1 HG01175.hp1 HG01256.hp1 others(17): Show |
intron_variant | MODIFIER | c.2592+736_2592+737d others(4): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | INFO_REALIGN_3_PRIME | chr2 | 203116789 | |||||
| chr2:203116804
|
A | G | 1 | a0001c0004t0005g0281 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.2592+734A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203116804 | ||||||
| chr2:203116808
|
G | A | 153 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(150): Show | 153 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(150): Show |
intron_variant | MODIFIER | c.2592+738G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203116808 | ||||||
| chr2:203116814
|
G | A | 22 | a0001c0004t0005g0274a0003c0003t0004g0024a0003c0003t0004g0026others(19): Show | 22 | HG00733.hp1 HG01099.hp1 HG01109.hp1 others(19): Show |
intron_variant | MODIFIER | c.2592+744G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203116814 | ||||||
| chr2:203116900
|
G | A | 1 | a0002c0002t0003g0130 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.2592+830G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203116900 | ||||||
| chr2:203117006
|
G | A | 1 | a0001c0001t0001g0227 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.2592+936G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203117006 | ||||||
| chr2:203117025
|
C | T | 1 | a0001c0001t0002g0182 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.2592+955C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203117025 | ||||||
| chr2:203117057
|
G | A | 1 | a0001c0001t0001g0217 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.2592+987G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203117057 | ||||||
| chr2:203117158
|
A | G | 1 | a0001c0001t0002g0138 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.2592+1088A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203117158 | ||||||
| chr2:203117167
|
C | T | 2 | a0006c0011t0017g0018a0020c0017t0017g0017 | 2 | HG03225.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.2592+1097C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203117167 | ||||||
| chr2:203117183
|
C | T | 2 | a0001c0001t0002g0158a0001c0019t0030g0180 | 2 | HG00544.hp1 HG02056.hp1 |
intron_variant | MODIFIER | c.2592+1113C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203117183 | ||||||
| chr2:203117219
|
C | T | 1 | a0001c0001t0001g0268 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.2592+1149C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203117219 | ||||||
| chr2:203117239
|
C | T | 1 | a0001c0001t0041g0054 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2592+1169C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203117239 | ||||||
| chr2:203117292
|
G | A | 3 | a0001c0009t0007g0055a0001c0009t0007g0056a0001c0009t0007g0057 | 3 | HG02976.hp1 HG03139.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.2592+1222G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203117292 | ||||||
| chr2:203117297
|
T | C | 1 | a0001c0001t0002g0178 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.2592+1227T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203117297 | ||||||
| chr2:203117459
|
T | TC | 259 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(256): Show | 259 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(256): Show |
intron_variant | MODIFIER | c.2592+1389_2592+139 others(5): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203117459 | ||||||
| chr2:203117594
|
C | A | 2 | a0002c0014t0003g0076a0019c0013t0003g0077 | 2 | HG03130.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.2592+1524C>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203117594 | ||||||
| chr2:203117752
|
G | A | 1 | a0016c0022t0001g0190 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.2592+1682G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203117752 | ||||||
| chr2:203117860
|
T | G | 2 | a0001c0001t0023g0045a0001c0001t0024g0016 | 2 | HG01884.hp2 HG02055.hp2 |
intron_variant | MODIFIER | c.2592+1790T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203117860 | ||||||
| chr2:203118109
|
A | C | 1 | a0001c0001t0001g0014 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.2592+2039A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203118109 | ||||||
| chr2:203118294
|
ACT | A | 5 | a0005c0006t0002g0100a0005c0006t0002g0160a0005c0006t0002g0163others(2): Show | 5 | HG00735.hp2 HG00741.hp2 HG03491.hp1 others(2): Show |
intron_variant | MODIFIER | c.2592+2227_2592+222 others(6): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | INFO_REALIGN_3_PRIME | chr2 | 203118294 | |||||
| chr2:203118594
|
C | CT | 99 | a0001c0001t0001g0189a0001c0001t0001g0219a0001c0001t0002g0079others(96): Show | 99 | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(96): Show |
intron_variant | MODIFIER | c.2592+2539dupT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | INFO_REALIGN_3_PRIME | chr2 | 203118594 | |||||
| chr2:203118926
|
T | G | 1 | a0003c0012t0011g0025 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.2592+2856T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203118926 | ||||||
| chr2:203118941
|
T | G | 3 | a0001c0001t0029g0236a0002c0002t0025g0075a0015c0021t0003g0074 | 3 | HG02257.hp2 HG03139.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.2592+2871T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203118941 | ||||||
| chr2:203118965
|
AT | A | 117 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(114): Show | 117 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(114): Show |
intron_variant | MODIFIER | c.2592+2910delT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | INFO_REALIGN_3_PRIME | chr2 | 203118965 | |||||
| chr2:203119005
|
A | T | 1 | a0001c0001t0002g0182 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.2592+2935A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203119005 | ||||||
| chr2:203119095
|
G | A | 1 | a0001c0001t0002g0178 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.2592+3025G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203119095 | ||||||
| chr2:203119169
|
AT | A | 9 | a0001c0001t0001g0249a0001c0001t0002g0292a0001c0001t0023g0045others(6): Show | 9 | HG01516.hp1 HG01884.hp2 HG02273.hp1 others(6): Show |
intron_variant | MODIFIER | c.2593-3071delT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | INFO_REALIGN_3_PRIME | chr2 | 203119169 | |||||
| chr2:203119217
|
C | A | 13 | a0001c0001t0005g0277a0001c0001t0005g0283a0001c0001t0019g0279others(10): Show | 13 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.2593-3037C>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203119217 | ||||||
| chr2:203119308
|
A | G | 1 | a0002c0002t0008g0088 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2593-2946A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203119308 | ||||||
| chr2:203119394
|
C | T | 13 | a0001c0001t0005g0277a0001c0001t0005g0283a0001c0001t0019g0279others(10): Show | 13 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.2593-2860C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203119394 | ||||||
| chr2:203119410
|
C | T | 3 | a0001c0009t0007g0055a0001c0009t0007g0056a0001c0009t0007g0057 | 3 | HG02976.hp1 HG03139.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.2593-2844C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203119410 | ||||||
| chr2:203119424
|
C | CTT | 18 | a0002c0002t0003g0021a0003c0003t0004g0024a0003c0003t0004g0026others(15): Show | 18 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(15): Show |
intron_variant | MODIFIER | c.2593-2811_2593-281 others(6): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | INFO_REALIGN_3_PRIME | chr2 | 203119424 | |||||
| chr2:203119424
|
C | CTTTTT | 8 | a0001c0001t0001g0229a0001c0001t0002g0124a0001c0001t0002g0153others(5): Show | 8 | HG01884.hp2 HG02055.hp2 HG03579.hp1 others(5): Show |
intron_variant | MODIFIER | c.2593-2814_2593-281 others(9): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | INFO_REALIGN_3_PRIME | chr2 | 203119424 | |||||
| chr2:203119424
|
C | CTTTTTT | 82 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(79): Show | 82 | HG00323.hp1 HG00408.hp1 HG00438.hp2 others(79): Show |
intron_variant | MODIFIER | c.2593-2815_2593-281 others(10): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | INFO_REALIGN_3_PRIME | chr2 | 203119424 | |||||
| chr2:203119424
|
C | CTTTTTTT | 19 | a0001c0001t0002g0103a0001c0001t0002g0113a0001c0001t0002g0117others(16): Show | 19 | HG00423.hp1 HG00544.hp1 HG00642.hp2 others(16): Show |
intron_variant | MODIFIER | c.2593-2816_2593-281 others(11): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | INFO_REALIGN_3_PRIME | chr2 | 203119424 | |||||
| chr2:203119424
|
C | CTTTTTTT others(3): Show |
2 | a0001c0001t0019g0279a0001c0001t0019g0280 | 2 | NA18952.hp2 NA18966.hp1 |
intron_variant | MODIFIER | c.2593-2819_2593-281 others(14): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | INFO_REALIGN_3_PRIME | chr2 | 203119424 | |||||
| chr2:203119424
|
C | CTTTTTTT others(4): Show |
7 | a0001c0001t0005g0277a0001c0001t0005g0283a0001c0004t0005g0273others(4): Show | 7 | HG00438.hp1 HG00738.hp2 HG01099.hp1 others(4): Show |
intron_variant | MODIFIER | c.2593-2820_2593-281 others(15): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | INFO_REALIGN_3_PRIME | chr2 | 203119424 | |||||
| chr2:203119424
|
C | CTTTTTTT others(5): Show |
4 | a0001c0004t0005g0275a0001c0004t0005g0276a0001c0004t0005g0278others(1): Show | 4 | HG00735.hp1 HG01167.hp1 HG01516.hp2 others(1): Show |
intron_variant | MODIFIER | c.2593-2821_2593-281 others(16): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | INFO_REALIGN_3_PRIME | chr2 | 203119424 | |||||
| chr2:203119424
|
C | CTTTTTTT others(10): Show |
1 | a0013c0027t0007g0053 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2593-2826_2593-281 others(21): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | INFO_REALIGN_3_PRIME | chr2 | 203119424 | |||||
| chr2:203119424
|
C | CTTTTTTT others(11): Show |
2 | a0001c0009t0007g0055a0001c0009t0007g0056 | 2 | HG02976.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.2593-2827_2593-281 others(22): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | INFO_REALIGN_3_PRIME | chr2 | 203119424 | |||||
| chr2:203119424
|
C | CTTTTTTT others(12): Show |
1 | a0001c0009t0007g0057 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.2593-2828_2593-281 others(23): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | INFO_REALIGN_3_PRIME | chr2 | 203119424 | |||||
| chr2:203119424
|
C | CTTTTTTT others(13): Show |
2 | a0001c0001t0014g0260a0009c0033t0001g0203 | 2 | HG02486.hp2 NA18982.hp1 |
intron_variant | MODIFIER | c.2593-2829_2593-281 others(24): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | INFO_REALIGN_3_PRIME | chr2 | 203119424 | |||||
| chr2:203119424
|
C | CTTTTTTT others(14): Show |
25 | a0001c0001t0001g0185a0001c0001t0001g0188a0001c0001t0001g0193others(22): Show | 25 | HG00673.hp2 HG01255.hp1 HG01256.hp1 others(22): Show |
intron_variant | MODIFIER | c.2593-2810_2593-280 others(25): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | INFO_REALIGN_3_PRIME | chr2 | 203119424 | |||||
| chr2:203119424
|
C | CTTTTTTT others(15): Show |
48 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0010others(45): Show | 48 | HG00408.hp2 HG00423.hp2 HG00609.hp2 others(45): Show |
intron_variant | MODIFIER | c.2593-2810_2593-280 others(26): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | INFO_REALIGN_3_PRIME | chr2 | 203119424 | |||||
| chr2:203119424
|
C | CTTTTTTT others(16): Show |
15 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(12): Show | 15 | HG00597.hp2 HG02083.hp2 HG02300.hp2 others(12): Show |
intron_variant | MODIFIER | c.2593-2810_2593-280 others(27): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | INFO_REALIGN_3_PRIME | chr2 | 203119424 | |||||
| chr2:203119424
|
C | CTTTTTTT others(17): Show |
3 | a0001c0001t0001g0009a0001c0001t0001g0255a0001c0001t0040g0012 | 3 | HG02135.hp1 HG02135.hp2 NA18965.hp2 |
intron_variant | MODIFIER | c.2593-2810_2593-280 others(28): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | INFO_REALIGN_3_PRIME | chr2 | 203119424 | |||||
| chr2:203119424
|
C | CTTTTTTT others(18): Show |
1 | a0001c0001t0001g0186 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.2593-2810_2593-280 others(29): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | INFO_REALIGN_3_PRIME | chr2 | 203119424 | |||||
| chr2:203119424
|
C | CTTTTTTT others(20): Show |
1 | a0001c0008t0001g0242 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.2593-2810_2593-280 others(31): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | INFO_REALIGN_3_PRIME | chr2 | 203119424 | |||||
| chr2:203119424
|
C | CTTTTTTT others(22): Show |
1 | a0001c0001t0038g0002 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.2593-2810_2593-280 others(33): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | INFO_REALIGN_3_PRIME | chr2 | 203119424 | |||||
| chr2:203119424
|
CT | C | 7 | a0001c0001t0001g0212a0001c0001t0001g0221a0001c0001t0001g0222others(4): Show | 7 | HG00323.hp2 HG01168.hp2 HG01175.hp1 others(4): Show |
intron_variant | MODIFIER | c.2593-2810delT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | INFO_REALIGN_3_PRIME | chr2 | 203119424 | |||||
| chr2:203119451
|
G | A | 1 | a0001c0004t0005g0282 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.2593-2803G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203119451 | ||||||
| chr2:203119508
|
C | T | 1 | a0001c0001t0002g0156 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.2593-2746C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203119508 | ||||||
| chr2:203119575
|
G | A | 1 | a0001c0001t0006g0254 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.2593-2679G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203119575 | ||||||
| chr2:203119614
|
C | G | 4 | a0002c0002t0003g0083a0002c0002t0003g0084a0002c0002t0003g0085others(1): Show | 4 | HG02630.hp1 HG02723.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.2593-2640C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203119614 | ||||||
| chr2:203119653
|
T | A | 5 | a0002c0002t0003g0046a0002c0002t0003g0048a0002c0002t0003g0049others(2): Show | 5 | HG02145.hp2 HG02451.hp2 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.2593-2601T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203119653 | ||||||
| chr2:203119703
|
G | A | 2 | a0001c0001t0023g0045a0001c0001t0024g0016 | 2 | HG01884.hp2 HG02055.hp2 |
intron_variant | MODIFIER | c.2593-2551G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203119703 | ||||||
| chr2:203119773
|
A | C | 1 | a0002c0002t0003g0063 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.2593-2481A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203119773 | ||||||
| chr2:203119812
|
C | T | 1 | a0001c0019t0030g0180 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.2593-2442C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203119812 | ||||||
| chr2:203119942
|
A | G | 7 | a0001c0001t0002g0098a0001c0001t0002g0107a0001c0001t0002g0116others(4): Show | 7 | HG00438.hp2 HG00609.hp1 HG02080.hp2 others(4): Show |
intron_variant | MODIFIER | c.2593-2312A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203119942 | ||||||
| chr2:203120092
|
T | A | 1 | a0001c0001t0001g0014 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.2593-2162T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203120092 | ||||||
| chr2:203120254
|
C | A | 1 | a0015c0021t0003g0074 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.2593-2000C>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203120254 | ||||||
| chr2:203120464
|
G | T | 1 | a0001c0001t0037g0272 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.2593-1790G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203120464 | ||||||
| chr2:203120486
|
T | C | 1 | a0022c0032t0001g0246 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.2593-1768T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203120486 | ||||||
| chr2:203120756
|
G | A | 2 | a0001c0001t0023g0045a0001c0001t0024g0016 | 2 | HG01884.hp2 HG02055.hp2 |
intron_variant | MODIFIER | c.2593-1498G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203120756 | ||||||
| chr2:203120921
|
A | G | 1 | a0001c0001t0024g0016 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2593-1333A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203120921 | ||||||
| chr2:203120947
|
C | T | 3 | a0001c0009t0007g0055a0001c0009t0007g0056a0001c0009t0007g0057 | 3 | HG02976.hp1 HG03139.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.2593-1307C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203120947 | ||||||
| chr2:203121086
|
C | T | 2 | a0001c0001t0023g0045a0001c0001t0024g0016 | 2 | HG01884.hp2 HG02055.hp2 |
intron_variant | MODIFIER | c.2593-1168C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203121086 | ||||||
| chr2:203121183
|
A | G | 21 | a0003c0003t0004g0024a0003c0003t0004g0026a0003c0003t0004g0027others(18): Show | 21 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(18): Show |
intron_variant | MODIFIER | c.2593-1071A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203121183 | ||||||
| chr2:203121197
|
A | AT | 22 | a0001c0001t0002g0103a0003c0003t0004g0024a0003c0003t0004g0026others(19): Show | 22 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(19): Show |
intron_variant | MODIFIER | c.2593-1047dupT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | INFO_REALIGN_3_PRIME | chr2 | 203121197 | |||||
| chr2:203121520
|
C | T | 1 | a0018c0018t0022g0022 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.2593-734C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203121520 | ||||||
| chr2:203121558
|
A | G | 1 | a0002c0002t0008g0080 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.2593-696A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203121558 | ||||||
| chr2:203121588
|
G | A | 1 | a0013c0027t0007g0053 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2593-666G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203121588 | ||||||
| chr2:203121653
|
C | CA | 33 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0013others(30): Show | 33 | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(30): Show |
intron_variant | MODIFIER | c.2593-585dupA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | INFO_REALIGN_3_PRIME | chr2 | 203121653 | |||||
| chr2:203121855
|
G | A | 1 | a0002c0002t0003g0065 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.2593-399G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203121855 | ||||||
| chr2:203121872
|
G | A | 1 | a0001c0001t0041g0054 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2593-382G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203121872 | ||||||
| chr2:203121977
|
G | A | 1 | a0013c0027t0007g0053 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2593-277G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203121977 | ||||||
| chr2:203121988
|
G | C | 1 | a0001c0001t0024g0016 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2593-266G>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203121988 | ||||||
| chr2:203122078
|
G | A | 25 | a0001c0001t0001g0193a0001c0001t0001g0194a0001c0001t0001g0195others(22): Show | 25 | HG00423.hp2 HG00609.hp2 HG00673.hp2 others(22): Show |
intron_variant | MODIFIER | c.2593-176G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | chr2 | 203122078 | ||||||
| chr2:203122473
|
C | A | 2 | a0001c0001t0023g0045a0001c0001t0024g0016 | 2 | HG01884.hp2 HG02055.hp2 |
intron_variant | MODIFIER | c.2682+130C>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 19/55 | chr2 | 203122473 | ||||||
| chr2:203122831
|
C | T | 99 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(96): Show | 99 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(96): Show |
intron_variant | MODIFIER | c.2682+488C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 19/55 | chr2 | 203122831 | ||||||
| chr2:203122874
|
G | T | 1 | a0001c0009t0007g0057 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.2682+531G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 19/55 | chr2 | 203122874 | ||||||
| chr2:203122981
|
C | T | 2 | a0001c0001t0001g0263a0001c0001t0001g0264 | 2 | HG02630.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.2682+638C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 19/55 | chr2 | 203122981 | ||||||
| chr2:203123044
|
A | T | 16 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(13): Show | 16 | HG00408.hp2 HG00544.hp2 HG01257.hp2 others(13): Show |
intron_variant | MODIFIER | c.2682+701A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 19/55 | chr2 | 203123044 | ||||||
| chr2:203123083
|
C | G | 13 | a0001c0001t0005g0277a0001c0001t0005g0283a0001c0001t0019g0279others(10): Show | 13 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.2682+740C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 19/55 | chr2 | 203123083 | ||||||
| chr2:203123136
|
G | GA | 284 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(281): Show | 284 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(281): Show |
intron_variant | MODIFIER | c.2682+806dupA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 19/55 | INFO_REALIGN_3_PRIME | chr2 | 203123136 | |||||
| chr2:203123342
|
C | CT | 6 | a0001c0001t0001g0003a0001c0001t0001g0189a0001c0001t0002g0103others(3): Show | 6 | HG01081.hp2 HG02055.hp2 HG03831.hp2 others(3): Show |
intron_variant | MODIFIER | c.2682+1013dupT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 19/55 | INFO_REALIGN_3_PRIME | chr2 | 203123342 | |||||
| chr2:203123342
|
CT | C | 13 | a0001c0001t0005g0277a0001c0001t0005g0283a0001c0001t0019g0279others(10): Show | 13 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.2682+1013delT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 19/55 | INFO_REALIGN_3_PRIME | chr2 | 203123342 | |||||
| chr2:203123401
|
C | T | 1 | a0001c0001t0041g0054 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2682+1058C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 19/55 | chr2 | 203123401 | ||||||
| chr2:203123629
|
C | T | 5 | a0001c0001t0023g0045a0001c0001t0024g0016a0001c0009t0007g0055others(2): Show | 5 | HG01884.hp2 HG02055.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.2682+1286C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 19/55 | chr2 | 203123629 | ||||||
| chr2:203123648
|
T | C | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.2682+1305T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 19/55 | chr2 | 203123648 | ||||||
| chr2:203124094
|
T | A | 91 | a0001c0001t0001g0020a0001c0001t0001g0052a0001c0001t0001g0177others(88): Show | 91 | HG00323.hp2 HG00423.hp2 HG00597.hp2 others(88): Show |
intron_variant | MODIFIER | c.2683-1258T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 19/55 | chr2 | 203124094 | ||||||
| chr2:203124095
|
G | T | 91 | a0001c0001t0001g0020a0001c0001t0001g0052a0001c0001t0001g0177others(88): Show | 91 | HG00323.hp2 HG00423.hp2 HG00597.hp2 others(88): Show |
intron_variant | MODIFIER | c.2683-1257G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 19/55 | chr2 | 203124095 | ||||||
| chr2:203124183
|
G | A | 3 | a0001c0009t0007g0055a0001c0009t0007g0056a0001c0009t0007g0057 | 3 | HG02976.hp1 HG03139.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.2683-1169G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 19/55 | chr2 | 203124183 | ||||||
| chr2:203124590
|
A | G | 7 | a0001c0001t0006g0228a0001c0001t0006g0230a0001c0001t0006g0232others(4): Show | 7 | HG00642.hp1 HG01255.hp1 HG01358.hp1 others(4): Show |
intron_variant | MODIFIER | c.2683-762A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 19/55 | chr2 | 203124590 | ||||||
| chr2:203124624
|
G | A | 256 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(253): Show | 256 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(253): Show |
intron_variant | MODIFIER | c.2683-728G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 19/55 | chr2 | 203124624 | ||||||
| chr2:203124641
|
A | C | 1 | a0001c0001t0041g0054 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2683-711A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 19/55 | chr2 | 203124641 | ||||||
| chr2:203124675
|
A | T | 2 | a0001c0001t0001g0269a0001c0001t0001g0270 | 2 | HG03490.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.2683-677A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 19/55 | chr2 | 203124675 | ||||||
| chr2:203124730
|
G | T | 5 | a0001c0001t0001g0215a0001c0001t0001g0216a0001c0001t0001g0217others(2): Show | 5 | HG02572.hp2 HG02723.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.2683-622G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 19/55 | chr2 | 203124730 | ||||||
| chr2:203124997
|
C | T | 2 | a0001c0001t0023g0045a0001c0001t0024g0016 | 2 | HG01884.hp2 HG02055.hp2 |
intron_variant | MODIFIER | c.2683-355C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 19/55 | chr2 | 203124997 | ||||||
| chr2:203125065
|
C | T | 1 | a0001c0001t0024g0016 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2683-287C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 19/55 | chr2 | 203125065 | ||||||
| chr2:203125546
|
T | C | 1 | a0015c0021t0003g0074 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.2851+26T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 20/55 | chr2 | 203125546 | ||||||
| chr2:203125700
|
A | C | 98 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(95): Show | 98 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(95): Show |
intron_variant | MODIFIER | c.2851+180A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 20/55 | chr2 | 203125700 | ||||||
| chr2:203126469
|
T | C | 1 | a0001c0019t0030g0180 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.2986-88T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 21/55 | chr2 | 203126469 | ||||||
| chr2:203126765
|
A | G | 110 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(107): Show | 110 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(107): Show |
intron_variant | MODIFIER | c.3145+49A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 22/55 | chr2 | 203126765 | ||||||
| chr2:203127017
|
A | G | 1 | a0002c0002t0003g0065 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.3248+91A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 23/55 | chr2 | 203127017 | ||||||
| chr2:203127095
|
T | C | 259 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(256): Show | 259 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(256): Show |
intron_variant | MODIFIER | c.3248+169T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 23/55 | chr2 | 203127095 | ||||||
| chr2:203127213
|
T | G | 107 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(104): Show | 107 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(104): Show |
intron_variant | MODIFIER | c.3248+287T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 23/55 | chr2 | 203127213 | ||||||
| chr2:203127482
|
G | A | 21 | a0003c0003t0004g0024a0003c0003t0004g0026a0003c0003t0004g0027others(18): Show | 21 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(18): Show |
intron_variant | MODIFIER | c.3249-299G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 23/55 | chr2 | 203127482 | ||||||
| chr2:203127494
|
T | C | 1 | a0003c0012t0011g0025 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.3249-287T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 23/55 | chr2 | 203127494 | ||||||
| chr2:203127496
|
G | A | 1 | a0002c0002t0008g0093 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.3249-285G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 23/55 | chr2 | 203127496 | ||||||
| chr2:203127580
|
G | A | 1 | a0002c0002t0003g0085 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.3249-201G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 23/55 | chr2 | 203127580 | ||||||
| chr2:203127637
|
G | A | 1 | a0001c0001t0001g0206 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.3249-144G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 23/55 | chr2 | 203127637 | ||||||
| chr2:203127984
|
T | G | 5 | a0005c0006t0002g0100a0005c0006t0002g0160a0005c0006t0002g0163others(2): Show | 5 | HG00735.hp2 HG00741.hp2 HG03491.hp1 others(2): Show |
intron_variant | MODIFIER | c.3405+47T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 24/55 | chr2 | 203127984 | ||||||
| chr2:203128004
|
G | A | 1 | a0001c0001t0001g0258 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.3405+67G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 24/55 | chr2 | 203128004 | ||||||
| chr2:203128262
|
C | CT | 7 | a0001c0001t0023g0045a0001c0007t0002g0059a0002c0002t0003g0064others(4): Show | 7 | HG01884.hp2 HG02109.hp1 HG02145.hp1 others(4): Show |
intron_variant | MODIFIER | c.3405+348dupT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 24/55 | INFO_REALIGN_3_PRIME | chr2 | 203128262 | |||||
| chr2:203128262
|
CT | C | 142 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006others(139): Show | 142 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(139): Show |
intron_variant | MODIFIER | c.3405+348delT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 24/55 | INFO_REALIGN_3_PRIME | chr2 | 203128262 | |||||
| chr2:203128262
|
CTT | C | 86 | a0001c0001t0001g0009a0001c0001t0002g0079a0001c0001t0002g0089others(83): Show | 86 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(83): Show |
intron_variant | MODIFIER | c.3405+347_3405+348d others(4): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 24/55 | INFO_REALIGN_3_PRIME | chr2 | 203128262 | |||||
| chr2:203128265
|
T | G | 1 | a0005c0006t0002g0163 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.3405+328T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 24/55 | chr2 | 203128265 | ||||||
| chr2:203128489
|
T | C | 1 | a0001c0001t0002g0138 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.3405+552T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 24/55 | chr2 | 203128489 | ||||||
| chr2:203128516
|
A | G | 2 | a0001c0001t0002g0118a0001c0001t0002g0146 | 2 | HG02602.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.3405+579A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 24/55 | chr2 | 203128516 | ||||||
| chr2:203128601
|
C | CT | 156 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(153): Show | 156 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(153): Show |
intron_variant | MODIFIER | c.3405+679dupT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 24/55 | INFO_REALIGN_3_PRIME | chr2 | 203128601 | |||||
| chr2:203128601
|
C | CTT | 75 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(72): Show | 75 | HG00323.hp1 HG00408.hp1 HG00544.hp1 others(72): Show |
intron_variant | MODIFIER | c.3405+678_3405+679d others(4): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 24/55 | INFO_REALIGN_3_PRIME | chr2 | 203128601 | |||||
| chr2:203128601
|
C | CTTT | 12 | a0001c0001t0002g0111a0001c0001t0002g0112a0001c0001t0002g0117others(9): Show | 12 | HG00423.hp1 HG02083.hp1 HG02523.hp2 others(9): Show |
intron_variant | MODIFIER | c.3405+677_3405+679d others(5): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 24/55 | INFO_REALIGN_3_PRIME | chr2 | 203128601 | |||||
| chr2:203128601
|
C | CTTTT | 6 | a0001c0001t0002g0098a0001c0001t0002g0107a0001c0001t0002g0116others(3): Show | 6 | HG00438.hp2 HG00609.hp1 HG02080.hp2 others(3): Show |
intron_variant | MODIFIER | c.3405+676_3405+679d others(6): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 24/55 | INFO_REALIGN_3_PRIME | chr2 | 203128601 | |||||
| chr2:203128619
|
G | C | 1 | a0001c0001t0039g0223 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.3405+682G>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 24/55 | chr2 | 203128619 | ||||||
| chr2:203128775
|
G | A | 1 | a0001c0004t0048g0285 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.3405+838G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 24/55 | chr2 | 203128775 | ||||||
| chr2:203128786
|
T | C | 252 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(249): Show | 252 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(249): Show |
intron_variant | MODIFIER | c.3405+849T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 24/55 | chr2 | 203128786 | ||||||
| chr2:203128787
|
G | A | 1 | a0003c0003t0004g0036 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.3405+850G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 24/55 | chr2 | 203128787 | ||||||
| chr2:203128789
|
G | A | 13 | a0001c0001t0005g0277a0001c0001t0005g0283a0001c0001t0019g0279others(10): Show | 13 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.3405+852G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 24/55 | chr2 | 203128789 | ||||||
| chr2:203128842
|
C | T | 1 | a0018c0018t0022g0022 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.3405+905C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 24/55 | chr2 | 203128842 | ||||||
| chr2:203128985
|
G | A | 2 | a0001c0001t0023g0045a0001c0001t0024g0016 | 2 | HG01884.hp2 HG02055.hp2 |
intron_variant | MODIFIER | c.3405+1048G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 24/55 | chr2 | 203128985 | ||||||
| chr2:203129077
|
A | G | 1 | a0001c0001t0002g0079 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.3405+1140A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 24/55 | chr2 | 203129077 | ||||||
| chr2:203129111
|
A | G | 18 | a0001c0001t0002g0098a0001c0001t0002g0107a0001c0001t0002g0111others(15): Show | 18 | HG00423.hp1 HG00438.hp2 HG00609.hp1 others(15): Show |
intron_variant | MODIFIER | c.3405+1174A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 24/55 | chr2 | 203129111 | ||||||
| chr2:203129182
|
C | T | 4 | a0002c0002t0003g0083a0002c0002t0003g0084a0002c0002t0003g0085others(1): Show | 4 | HG02630.hp1 HG02723.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.3406-1136C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 24/55 | chr2 | 203129182 | ||||||
| chr2:203129453
|
A | C | 1 | a0002c0002t0003g0021 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.3406-865A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 24/55 | chr2 | 203129453 | ||||||
| chr2:203129513
|
A | G | 2 | a0001c0001t0001g0205a0001c0001t0001g0206 | 2 | NA18999.hp1 NA19057.hp2 |
intron_variant | MODIFIER | c.3406-805A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 24/55 | chr2 | 203129513 | ||||||
| chr2:203129602
|
C | T | 1 | a0001c0001t0029g0236 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.3406-716C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 24/55 | chr2 | 203129602 | ||||||
| chr2:203130091
|
A | G | 96 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(93): Show | 96 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(93): Show |
intron_variant | MODIFIER | c.3406-227A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 24/55 | chr2 | 203130091 | ||||||
| chr2:203130637
|
A | G | 23 | a0001c0001t0033g0136a0002c0002t0003g0130a0003c0003t0004g0024others(20): Show | 23 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(20): Show |
intron_variant | MODIFIER | c.3564+161A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 25/55 | chr2 | 203130637 | ||||||
| chr2:203130682
|
G | A | 13 | a0001c0001t0005g0277a0001c0001t0005g0283a0001c0001t0019g0279others(10): Show | 13 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.3564+206G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 25/55 | chr2 | 203130682 | ||||||
| chr2:203130785
|
G | T | 1 | a0001c0001t0001g0237 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.3564+309G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 25/55 | chr2 | 203130785 | ||||||
| chr2:203130808
|
A | G | 1 | a0001c0004t0005g0284 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.3564+332A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 25/55 | chr2 | 203130808 | ||||||
| chr2:203130850
|
G | A | 2 | a0001c0001t0023g0045a0001c0001t0024g0016 | 2 | HG01884.hp2 HG02055.hp2 |
intron_variant | MODIFIER | c.3564+374G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 25/55 | chr2 | 203130850 | ||||||
| chr2:203131102
|
A | C | 1 | a0004c0005t0009g0170 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.3564+626A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 25/55 | chr2 | 203131102 | ||||||
| chr2:203131119
|
A | G | 1 | a0001c0001t0001g0213 | 1 | NA18974.hp2 | intron_variant | MODIFIER | c.3564+643A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 25/55 | chr2 | 203131119 | ||||||
| chr2:203131208
|
C | G | 1 | a0001c0001t0001g0268 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.3564+732C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 25/55 | chr2 | 203131208 | ||||||
| chr2:203131243
|
T | C | 1 | a0002c0002t0003g0082 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.3565-730T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 25/55 | chr2 | 203131243 | ||||||
| chr2:203131545
|
A | G | 1 | a0001c0001t0005g0283 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.3565-428A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 25/55 | chr2 | 203131545 | ||||||
| chr2:203131678
|
C | G | 1 | a0011c0029t0028g0095 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.3565-295C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 25/55 | chr2 | 203131678 | ||||||
| chr2:203131695
|
C | T | 2 | a0001c0001t0002g0118a0001c0001t0002g0146 | 2 | HG02602.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.3565-278C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 25/55 | chr2 | 203131695 | ||||||
| chr2:203131696
|
G | A | 2 | a0001c0001t0023g0045a0003c0003t0004g0037 | 2 | HG01884.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.3565-277G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 25/55 | chr2 | 203131696 | ||||||
| chr2:203131767
|
C | A | 2 | a0001c0001t0023g0045a0001c0001t0024g0016 | 2 | HG01884.hp2 HG02055.hp2 |
intron_variant | MODIFIER | c.3565-206C>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 25/55 | chr2 | 203131767 | ||||||
| chr2:203131791
|
G | T | 1 | a0001c0001t0001g0197 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.3565-182G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 25/55 | chr2 | 203131791 | ||||||
| chr2:203131912
|
T | G | 117 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(114): Show | 117 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(114): Show |
intron_variant | MODIFIER | c.3565-61T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 25/55 | chr2 | 203131912 | ||||||
| chr2:203131927
|
T | C | 1 | a0018c0018t0022g0022 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.3565-46T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 25/55 | chr2 | 203131927 | ||||||
| chr2:203132147
|
A | G | 261 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(258): Show | 261 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(258): Show |
intron_variant | MODIFIER | c.3724+15A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 26/55 | chr2 | 203132147 | ||||||
| chr2:203132324
|
T | C | 1 | a0003c0003t0004g0029 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.3724+192T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 26/55 | chr2 | 203132324 | ||||||
| chr2:203132403
|
A | T | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.3724+271A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 26/55 | chr2 | 203132403 | ||||||
| chr2:203132941
|
A | G | 1 | a0001c0001t0002g0116 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.3725-117A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 26/55 | chr2 | 203132941 | ||||||
| chr2:203133244
|
A | C | 1 | a0001c0001t0006g0232 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.3813+98A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 27/55 | chr2 | 203133244 | ||||||
| chr2:203133421
|
C | A | 1 | a0001c0001t0001g0208 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.3813+275C>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 27/55 | chr2 | 203133421 | ||||||
| chr2:203133421
|
C | T | 1 | a0001c0001t0024g0016 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.3813+275C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 27/55 | chr2 | 203133421 | ||||||
| chr2:203133556
|
A | G | 3 | a0001c0001t0001g0226a0001c0001t0001g0227a0001c0001t0001g0248 | 3 | NA18986.hp1 NA19066.hp1 NA19078.hp1 |
intron_variant | MODIFIER | c.3813+410A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 27/55 | chr2 | 203133556 | ||||||
| chr2:203133613
|
C | G | 94 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(91): Show | 94 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(91): Show |
intron_variant | MODIFIER | c.3813+467C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 27/55 | chr2 | 203133613 | ||||||
| chr2:203133704
|
G | GAT | 27 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(24): Show | 27 | HG00408.hp2 HG00544.hp2 HG01257.hp2 others(24): Show |
intron_variant | MODIFIER | c.3813+575_3813+576d others(4): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 27/55 | INFO_REALIGN_3_PRIME | chr2 | 203133704 | |||||
| chr2:203133870
|
T | C | 1 | a0003c0003t0004g0024 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.3813+724T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 27/55 | chr2 | 203133870 | ||||||
| chr2:203134048
|
T | C | 1 | a0001c0001t0024g0016 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.3813+902T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 27/55 | chr2 | 203134048 | ||||||
| chr2:203134517
|
A | G | 1 | a0002c0002t0003g0021 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.3814-1160A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 27/55 | chr2 | 203134517 | ||||||
| chr2:203134667
|
C | G | 1 | a0001c0001t0024g0016 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.3814-1010C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 27/55 | chr2 | 203134667 | ||||||
| chr2:203134730
|
A | G | 1 | a0002c0002t0003g0021 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.3814-947A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 27/55 | chr2 | 203134730 | ||||||
| chr2:203134754
|
T | G | 1 | a0002c0002t0003g0062 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.3814-923T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 27/55 | chr2 | 203134754 | ||||||
| chr2:203134759
|
T | C | 6 | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0011others(3): Show | 6 | HG00408.hp2 HG02083.hp2 HG02135.hp1 others(3): Show |
intron_variant | MODIFIER | c.3814-918T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 27/55 | chr2 | 203134759 | ||||||
| chr2:203135043
|
C | T | 1 | a0018c0018t0022g0022 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.3814-634C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 27/55 | chr2 | 203135043 | ||||||
| chr2:203135169
|
C | CA | 6 | a0001c0001t0001g0266a0001c0001t0001g0288a0001c0001t0002g0104others(3): Show | 6 | HG01109.hp2 HG02523.hp2 HG04115.hp2 others(3): Show |
intron_variant | MODIFIER | c.3814-492dupA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 27/55 | INFO_REALIGN_3_PRIME | chr2 | 203135169 | |||||
| chr2:203135181
|
A | C | 1 | a0001c0001t0006g0230 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.3814-496A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 27/55 | chr2 | 203135181 | ||||||
| chr2:203135254
|
TTATGTGT others(2): Show |
T | 21 | a0003c0003t0004g0024a0003c0003t0004g0026a0003c0003t0004g0027others(18): Show | 21 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(18): Show |
intron_variant | MODIFIER | c.3814-419_3814-411d others(11): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 27/55 | INFO_REALIGN_3_PRIME | chr2 | 203135254 | |||||
| chr2:203135419
|
A | C | 1 | a0003c0012t0011g0025 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.3814-258A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 27/55 | chr2 | 203135419 | ||||||
| chr2:203135480
|
A | G | 1 | a0001c0001t0006g0228 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.3814-197A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 27/55 | chr2 | 203135480 | ||||||
| chr2:203135542
|
T | C | 1 | a0001c0001t0024g0016 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.3814-135T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 27/55 | chr2 | 203135542 | ||||||
| chr2:203135582
|
A | T | 1 | a0011c0029t0028g0095 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.3814-95A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 27/55 | chr2 | 203135582 | ||||||
| chr2:203135622
|
G | C | 3 | a0006c0011t0017g0018a0006c0011t0045g0023a0020c0017t0017g0017 | 3 | HG03195.hp2 HG03225.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.3814-55G>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 27/55 | chr2 | 203135622 | ||||||
| chr2:203136775
|
G | A | 1 | a0001c0001t0034g0058 | 1 | HG02622.hp2 | splice_donor_variant&intron_variant | HIGH | c.4565+1G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 29/55 | chr2 | 203136775 | ||||||
| chr2:203136798
|
C | T | 1 | a0001c0001t0001g0231 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.4565+24C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 29/55 | chr2 | 203136798 | ||||||
| chr2:203136856
|
T | C | 1 | a0002c0002t0003g0021 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.4565+82T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 29/55 | chr2 | 203136856 | ||||||
| chr2:203137001
|
G | A | 270 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(267): Show | 270 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(267): Show |
intron_variant | MODIFIER | c.4565+227G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 29/55 | chr2 | 203137001 | ||||||
| chr2:203137018
|
A | G | 6 | a0001c0001t0002g0129a0005c0006t0002g0100a0005c0006t0002g0160others(3): Show | 6 | HG00735.hp2 HG00741.hp2 HG03453.hp1 others(3): Show |
intron_variant | MODIFIER | c.4565+244A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 29/55 | chr2 | 203137018 | ||||||
| chr2:203137145
|
T | G | 1 | a0002c0002t0008g0088 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.4565+371T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 29/55 | chr2 | 203137145 | ||||||
| chr2:203137383
|
G | C | 1 | a0001c0001t0016g0155 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.4565+609G>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 29/55 | chr2 | 203137383 | ||||||
| chr2:203137422
|
G | C | 1 | a0002c0002t0003g0021 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.4565+648G>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 29/55 | chr2 | 203137422 | ||||||
| chr2:203137445
|
G | A | 1 | a0018c0018t0022g0022 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.4565+671G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 29/55 | chr2 | 203137445 | ||||||
| chr2:203137767
|
T | G | 4 | a0002c0002t0003g0083a0002c0002t0003g0084a0002c0002t0003g0085others(1): Show | 4 | HG02630.hp1 HG02723.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.4566-395T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 29/55 | chr2 | 203137767 | ||||||
| chr2:203137798
|
A | G | 1 | a0001c0009t0007g0055 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.4566-364A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 29/55 | chr2 | 203137798 | ||||||
| chr2:203137990
|
CA | C | 142 | a0001c0001t0001g0221a0001c0001t0002g0079a0001c0001t0002g0087others(139): Show | 142 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(139): Show |
intron_variant | MODIFIER | c.4566-157delA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 29/55 | INFO_REALIGN_3_PRIME | chr2 | 203137990 | |||||
| chr2:203138005
|
A | G | 252 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(249): Show | 252 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(249): Show |
intron_variant | MODIFIER | c.4566-157A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 29/55 | chr2 | 203138005 | ||||||
| chr2:203138086
|
A | C | 252 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(249): Show | 252 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(249): Show |
intron_variant | MODIFIER | c.4566-76A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 29/55 | chr2 | 203138086 | ||||||
| chr2:203138384
|
C | A | 1 | a0001c0001t0001g0196 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.4719+69C>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 30/55 | chr2 | 203138384 | ||||||
| chr2:203138960
|
C | T | 3 | a0002c0002t0008g0080a0002c0002t0008g0088a0002c0002t0008g0093 | 3 | HG02293.hp1 HG02886.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.4848+212C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203138960 | ||||||
| chr2:203139222
|
A | G | 2 | a0001c0001t0001g0213a0001c0001t0001g0224 | 2 | NA18974.hp2 NA19063.hp1 |
intron_variant | MODIFIER | c.4848+474A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203139222 | ||||||
| chr2:203139342
|
A | T | 1 | a0001c0001t0024g0016 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.4848+594A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203139342 | ||||||
| chr2:203139557
|
C | CT | 27 | a0001c0001t0002g0098a0001c0001t0002g0099a0001c0001t0002g0110others(24): Show | 27 | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(24): Show |
intron_variant | MODIFIER | c.4848+838dupT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203139557 | |||||
| chr2:203139557
|
C | CTT | 10 | a0001c0001t0005g0277a0001c0001t0032g0141a0001c0004t0005g0273others(7): Show | 10 | HG00735.hp1 HG00738.hp2 HG01099.hp1 others(7): Show |
intron_variant | MODIFIER | c.4848+837_4848+838d others(4): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203139557 | |||||
| chr2:203139557
|
C | CTTT | 17 | a0001c0001t0001g0206a0001c0001t0001g0215a0001c0001t0001g0217others(14): Show | 17 | HG00438.hp1 HG00642.hp1 HG01255.hp1 others(14): Show |
intron_variant | MODIFIER | c.4848+836_4848+838d others(5): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203139557 | |||||
| chr2:203139557
|
C | CTTTT | 67 | a0001c0001t0001g0020a0001c0001t0001g0051a0001c0001t0001g0052others(64): Show | 67 | HG00597.hp2 HG00673.hp2 HG00741.hp1 others(64): Show |
intron_variant | MODIFIER | c.4848+835_4848+838d others(6): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203139557 | |||||
| chr2:203139557
|
C | CTTTTT | 14 | a0001c0001t0001g0177a0001c0001t0001g0198a0001c0001t0001g0205others(11): Show | 14 | HG00323.hp2 HG00423.hp2 HG00609.hp2 others(11): Show |
intron_variant | MODIFIER | c.4848+834_4848+838d others(7): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203139557 | |||||
| chr2:203139557
|
C | CTTTTTT | 11 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0007others(8): Show | 11 | HG00544.hp2 HG01175.hp1 HG01257.hp2 others(8): Show |
intron_variant | MODIFIER | c.4848+833_4848+838d others(8): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203139557 | |||||
| chr2:203139557
|
C | CTTTTTTT | 9 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0010others(6): Show | 9 | HG00408.hp2 HG02083.hp2 HG02135.hp1 others(6): Show |
intron_variant | MODIFIER | c.4848+832_4848+838d others(9): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203139557 | |||||
| chr2:203139557
|
CT | C | 33 | a0001c0001t0002g0089a0001c0001t0002g0097a0001c0001t0002g0131others(30): Show | 33 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(30): Show |
intron_variant | MODIFIER | c.4848+838delT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203139557 | |||||
| chr2:203139608
|
T | C | 1 | a0001c0001t0002g0157 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.4848+860T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203139608 | ||||||
| chr2:203139853
|
A | G | 1 | a0001c0001t0006g0228 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.4848+1105A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203139853 | ||||||
| chr2:203140349
|
A | G | 13 | a0001c0001t0005g0277a0001c0001t0005g0283a0001c0001t0019g0279others(10): Show | 13 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.4848+1601A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203140349 | ||||||
| chr2:203140363
|
C | T | 1 | a0001c0001t0006g0259 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.4848+1615C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203140363 | ||||||
| chr2:203140431
|
C | T | 1 | a0006c0011t0045g0023 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.4848+1683C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203140431 | ||||||
| chr2:203140686
|
T | A | 254 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(251): Show | 254 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(251): Show |
intron_variant | MODIFIER | c.4848+1938T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203140686 | ||||||
| chr2:203140715
|
T | C | 1 | a0001c0001t0002g0104 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.4848+1967T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203140715 | ||||||
| chr2:203140809
|
A | G | 261 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(258): Show | 261 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(258): Show |
intron_variant | MODIFIER | c.4848+2061A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203140809 | ||||||
| chr2:203140825
|
G | A | 1 | a0001c0001t0001g0211 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.4848+2077G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203140825 | ||||||
| chr2:203140894
|
G | A | 4 | a0001c0007t0002g0059a0001c0007t0002g0090a0001c0007t0002g0091others(1): Show | 4 | HG02145.hp1 HG02257.hp1 HG02622.hp1 others(1): Show |
intron_variant | MODIFIER | c.4848+2146G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203140894 | ||||||
| chr2:203140969
|
A | T | 1 | a0001c0001t0006g0233 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.4848+2221A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203140969 | ||||||
| chr2:203140988
|
A | T | 1 | a0002c0002t0003g0021 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.4848+2240A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203140988 | ||||||
| chr2:203140992
|
T | A | 257 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(254): Show | 257 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(254): Show |
intron_variant | MODIFIER | c.4848+2244T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203140992 | ||||||
| chr2:203140996
|
T | A | 1 | a0001c0001t0002g0079 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.4848+2248T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203140996 | ||||||
| chr2:203141154
|
T | C | 259 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(256): Show | 259 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(256): Show |
intron_variant | MODIFIER | c.4848+2406T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203141154 | ||||||
| chr2:203141182
|
A | G | 1 | a0001c0001t0002g0103 | 1 | NA18991.hp2 | intron_variant | MODIFIER | c.4848+2434A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203141182 | ||||||
| chr2:203141197
|
A | G | 2 | a0001c0001t0015g0127a0001c0001t0015g0128 | 2 | HG00733.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.4848+2449A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203141197 | ||||||
| chr2:203141238
|
T | TC | 258 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(255): Show | 258 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(255): Show |
intron_variant | MODIFIER | c.4848+2492dupC | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141238 | |||||
| chr2:203141341
|
G | GATTATT | 6 | a0001c0001t0005g0277a0001c0001t0014g0019a0001c0001t0019g0279others(3): Show | 6 | HG02257.hp1 HG02717.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.4848+2615_4848+262 others(10): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141341 | |||||
| chr2:203141341
|
G | GATTATTA others(2): Show |
6 | a0001c0001t0001g0010a0001c0001t0001g0014a0001c0001t0001g0234others(3): Show | 6 | HG02293.hp2 HG02523.hp1 HG02897.hp1 others(3): Show |
intron_variant | MODIFIER | c.4848+2612_4848+262 others(13): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141341 | |||||
| chr2:203141341
|
G | GATTATTA others(5): Show |
1 | a0010c0015t0001g0214 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.4848+2609_4848+262 others(16): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141341 | |||||
| chr2:203141357
|
A | ATTTTTTT others(6): Show |
1 | a0001c0001t0037g0272 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.4848+2611_4848+261 others(17): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141357 | |||||
| chr2:203141360
|
A | ATTTTTTT others(3): Show |
1 | a0001c0001t0038g0002 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.4848+2614_4848+261 others(14): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141360 | |||||
| chr2:203141360
|
A | ATTTTTTT others(8): Show |
1 | a0001c0001t0002g0152 | 1 | NA19070.hp2 | intron_variant | MODIFIER | c.4848+2614_4848+261 others(19): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141360 | |||||
| chr2:203141360
|
A | ATTTTTTT others(9): Show |
2 | a0001c0001t0002g0113a0001c0001t0002g0120 | 2 | HG03942.hp1 NA18946.hp1 |
intron_variant | MODIFIER | c.4848+2614_4848+261 others(20): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141360 | |||||
| chr2:203141360
|
A | ATTTTTTT others(11): Show |
1 | a0001c0031t0002g0159 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.4848+2614_4848+261 others(22): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141360 | |||||
| chr2:203141360
|
A | T | 1 | a0001c0001t0037g0272 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.4848+2612A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203141360 | ||||||
| chr2:203141363
|
A | ATTTTT | 3 | a0003c0003t0004g0037a0007c0010t0012g0101a0007c0010t0012g0102 | 3 | HG01515.hp1 HG01517.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.4848+2617_4848+261 others(9): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141363 | |||||
| chr2:203141363
|
A | ATTTTTTT others(3): Show |
1 | a0013c0027t0007g0053 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.4848+2617_4848+261 others(14): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141363 | |||||
| chr2:203141363
|
A | ATTTTTTT others(4): Show |
1 | a0003c0003t0010g0041 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.4848+2617_4848+261 others(15): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141363 | |||||
| chr2:203141363
|
A | ATTTTTTT others(5): Show |
2 | a0003c0003t0004g0031a0003c0003t0004g0033 | 2 | HG02258.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.4848+2617_4848+261 others(16): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141363 | |||||
| chr2:203141363
|
A | ATTTTTTT others(6): Show |
4 | a0003c0003t0004g0027a0003c0003t0004g0028a0003c0003t0004g0030others(1): Show | 4 | HG01109.hp1 HG02895.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.4848+2617_4848+261 others(17): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141363 | |||||
| chr2:203141363
|
A | ATTTTTTT others(7): Show |
3 | a0001c0001t0002g0087a0001c0001t0002g0153a0001c0001t0006g0233 | 3 | HG01358.hp1 HG03669.hp1 NA18982.hp2 |
intron_variant | MODIFIER | c.4848+2617_4848+261 others(18): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141363 | |||||
| chr2:203141363
|
A | ATTTTTTT others(8): Show |
4 | a0001c0001t0002g0121a0001c0001t0020g0140a0001c0001t0032g0141others(1): Show | 4 | HG02818.hp2 NA18951.hp1 NA18981.hp2 others(1): Show |
intron_variant | MODIFIER | c.4848+2617_4848+261 others(19): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141363 | |||||
| chr2:203141363
|
A | ATTTTTTT others(9): Show |
4 | a0001c0001t0002g0107a0001c0001t0002g0119a0001c0001t0002g0142others(1): Show | 4 | NA18747.hp2 NA18970.hp1 NA18986.hp2 others(1): Show |
intron_variant | MODIFIER | c.4848+2617_4848+261 others(20): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141363 | |||||
| chr2:203141363
|
A | ATTTTTTT others(10): Show |
3 | a0001c0001t0002g0103a0001c0001t0002g0149a0001c0001t0018g0144 | 3 | HG02132.hp2 NA18991.hp2 NA19078.hp2 |
intron_variant | MODIFIER | c.4848+2617_4848+261 others(21): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141363 | |||||
| chr2:203141363
|
A | ATTTTTTT others(12): Show |
1 | a0021c0016t0002g0109 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.4848+2617_4848+261 others(23): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141363 | |||||
| chr2:203141363
|
A | T | 10 | a0001c0001t0002g0113a0001c0001t0002g0120a0001c0001t0002g0152others(7): Show | 10 | HG00544.hp2 HG02976.hp1 HG03098.hp1 others(7): Show |
intron_variant | MODIFIER | c.4848+2615A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203141363 | ||||||
| chr2:203141363
|
ATTATTTT | A | 8 | a0001c0001t0002g0111a0001c0001t0002g0112a0001c0001t0002g0124others(5): Show | 8 | HG02083.hp1 HG02523.hp2 NA18939.hp1 others(5): Show |
intron_variant | MODIFIER | c.4848+2618_4848+262 others(11): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141363 | |||||
| chr2:203141363
|
ATTATTTT others(2): Show |
A | 7 | a0001c0001t0001g0020a0001c0001t0001g0188a0001c0001t0001g0231others(4): Show | 7 | HG02486.hp1 HG02630.hp2 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.4848+2618_4848+262 others(13): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141363 | |||||
| chr2:203141363
|
ATTATTTT others(5): Show |
A | 1 | a0001c0001t0018g0145 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.4848+2618_4848+262 others(16): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141363 | |||||
| chr2:203141366
|
A | ATTATTAT | 13 | a0001c0001t0001g0235a0001c0001t0002g0108a0001c0001t0005g0283others(10): Show | 13 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.4848+2620_4848+262 others(11): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141366 | |||||
| chr2:203141366
|
A | ATTATTAT others(3): Show |
2 | a0001c0001t0001g0197a0016c0022t0001g0190 | 2 | HG02129.hp2 NA18988.hp2 |
intron_variant | MODIFIER | c.4848+2620_4848+262 others(14): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141366 | |||||
| chr2:203141366
|
A | ATTATTAT others(4): Show |
4 | a0001c0001t0001g0209a0001c0001t0001g0210a0001c0001t0001g0289others(1): Show | 4 | HG00673.hp2 HG00735.hp2 HG02165.hp2 others(1): Show |
intron_variant | MODIFIER | c.4848+2620_4848+262 others(15): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141366 | |||||
| chr2:203141366
|
A | ATTATTAT others(7): Show |
1 | a0004c0005t0009g0181 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.4848+2620_4848+262 others(18): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141366 | |||||
| chr2:203141366
|
A | ATTATTAT others(11): Show |
1 | a0001c0007t0002g0092 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.4848+2620_4848+262 others(22): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141366 | |||||
| chr2:203141366
|
A | ATTATTAT others(16): Show |
1 | a0001c0007t0002g0059 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.4848+2620_4848+262 others(27): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141366 | |||||
| chr2:203141366
|
A | ATTATTAT others(8): Show |
3 | a0001c0001t0002g0182a0002c0002t0003g0046a0004c0005t0002g0173 | 3 | HG02451.hp2 HG03831.hp1 NA19057.hp1 |
intron_variant | MODIFIER | c.4848+2620_4848+262 others(19): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141366 | |||||
| chr2:203141366
|
A | ATTATTAT others(9): Show |
1 | a0017c0025t0003g0047 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.4848+2620_4848+262 others(20): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141366 | |||||
| chr2:203141366
|
A | ATTATTAT others(11): Show |
1 | a0001c0007t0002g0091 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.4848+2620_4848+262 others(22): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141366 | |||||
| chr2:203141366
|
A | ATTATTAT others(5): Show |
2 | a0001c0001t0001g0198a0001c0001t0035g0256 | 2 | HG02056.hp2 HG02602.hp1 |
intron_variant | MODIFIER | c.4848+2620_4848+262 others(16): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141366 | |||||
| chr2:203141366
|
A | ATTATTAT others(6): Show |
1 | a0004c0005t0009g0170 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.4848+2620_4848+262 others(17): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141366 | |||||
| chr2:203141366
|
A | ATTATTAT others(7): Show |
1 | a0003c0012t0011g0025 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.4848+2620_4848+262 others(18): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141366 | |||||
| chr2:203141366
|
A | ATTATTAT others(8): Show |
1 | a0004c0005t0002g0175 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.4848+2620_4848+262 others(19): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141366 | |||||
| chr2:203141366
|
A | ATTATTAT others(9): Show |
3 | a0002c0002t0003g0049a0002c0002t0003g0050a0004c0005t0002g0174 | 3 | HG02717.hp1 HG02895.hp2 NA19077.hp2 |
intron_variant | MODIFIER | c.4848+2620_4848+262 others(20): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141366 | |||||
| chr2:203141366
|
A | ATTATTAT others(10): Show |
1 | a0002c0002t0003g0048 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.4848+2620_4848+262 others(21): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141366 | |||||
| chr2:203141366
|
A | ATTATTAT others(2): Show |
6 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(3): Show | 6 | HG00408.hp2 HG01256.hp1 HG01257.hp2 others(3): Show |
intron_variant | MODIFIER | c.4848+2620_4848+262 others(13): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141366 | |||||
| chr2:203141366
|
A | ATTATTAT others(3): Show |
13 | a0001c0001t0001g0193a0001c0001t0001g0202a0001c0001t0001g0220others(10): Show | 13 | HG01081.hp1 HG01358.hp2 HG01943.hp1 others(10): Show |
intron_variant | MODIFIER | c.4848+2620_4848+262 others(14): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141366 | |||||
| chr2:203141366
|
A | ATTATTAT others(4): Show |
3 | a0001c0001t0001g0226a0001c0001t0001g0288a0009c0033t0001g0203 | 3 | NA18982.hp1 NA18994.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.4848+2620_4848+262 others(15): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141366 | |||||
| chr2:203141366
|
A | ATTATTAT others(5): Show |
7 | a0001c0001t0001g0199a0001c0001t0001g0205a0001c0001t0001g0206others(4): Show | 7 | HG00423.hp2 HG00609.hp2 HG01192.hp1 others(4): Show |
intron_variant | MODIFIER | c.4848+2620_4848+262 others(16): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141366 | |||||
| chr2:203141366
|
A | ATTATTAT others(6): Show |
4 | a0001c0001t0001g0177a0001c0001t0029g0236a0001c0001t0040g0012others(1): Show | 4 | HG02135.hp1 HG03225.hp1 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.4848+2620_4848+262 others(17): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141366 | |||||
| chr2:203141366
|
A | ATTATTAT others(7): Show |
4 | a0001c0001t0002g0167a0001c0001t0002g0168a0001c0001t0002g0172others(1): Show | 4 | HG01167.hp2 HG01169.hp2 HG03490.hp2 others(1): Show |
intron_variant | MODIFIER | c.4848+2620_4848+262 others(18): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141366 | |||||
| chr2:203141366
|
A | ATTATTAT others(11): Show |
1 | a0001c0001t0002g0146 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.4848+2620_4848+262 others(22): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141366 | |||||
| chr2:203141366
|
A | ATTATTTT others(3): Show |
13 | a0001c0001t0001g0009a0001c0001t0001g0051a0001c0001t0001g0189others(10): Show | 13 | HG00323.hp2 HG00741.hp1 HG01175.hp1 others(10): Show |
intron_variant | MODIFIER | c.4848+2620_4848+262 others(14): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141366 | |||||
| chr2:203141366
|
A | ATTATTTT others(4): Show |
6 | a0001c0001t0001g0194a0001c0001t0001g0215a0001c0001t0001g0217others(3): Show | 6 | HG01169.hp1 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.4848+2620_4848+262 others(15): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141366 | |||||
| chr2:203141366
|
A | ATTATTTT others(5): Show |
8 | a0001c0001t0001g0218a0001c0001t0001g0219a0001c0001t0001g0268others(5): Show | 8 | HG00733.hp1 HG01168.hp1 HG01257.hp1 others(5): Show |
intron_variant | MODIFIER | c.4848+2620_4848+262 others(16): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141366 | |||||
| chr2:203141366
|
A | ATTATTTT others(7): Show |
5 | a0001c0001t0002g0106a0001c0001t0002g0137a0001c0001t0006g0232others(2): Show | 5 | HG00408.hp1 HG00597.hp1 HG00642.hp1 others(2): Show |
intron_variant | MODIFIER | c.4848+2620_4848+262 others(18): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141366 | |||||
| chr2:203141366
|
A | ATTATTTT others(8): Show |
5 | a0001c0001t0002g0118a0001c0001t0002g0157a0001c0001t0031g0114others(2): Show | 5 | HG01175.hp2 HG02055.hp1 HG02602.hp2 others(2): Show |
intron_variant | MODIFIER | c.4848+2620_4848+262 others(19): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141366 | |||||
| chr2:203141366
|
A | ATTATTTT others(9): Show |
1 | a0003c0003t0004g0038 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.4848+2620_4848+262 others(20): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141366 | |||||
| chr2:203141366
|
A | ATTATTTT others(10): Show |
1 | a0001c0001t0002g0105 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.4848+2620_4848+262 others(21): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141366 | |||||
| chr2:203141366
|
A | ATTATTTT others(11): Show |
1 | a0001c0001t0002g0097 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.4848+2620_4848+262 others(22): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141366 | |||||
| chr2:203141366
|
A | ATTTTTAT others(7): Show |
2 | a0001c0009t0007g0056a0001c0009t0007g0057 | 2 | HG03139.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.4848+2623_4848+262 others(18): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141366 | |||||
| chr2:203141366
|
A | ATTTTTTT others(3): Show |
1 | a0001c0001t0001g0270 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.4848+2641_4848+265 others(14): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141366 | |||||
| chr2:203141366
|
A | ATTTTTTT others(4): Show |
2 | a0001c0001t0001g0253a0001c0001t0001g0266 | 2 | HG04228.hp2 NA18948.hp1 |
intron_variant | MODIFIER | c.4848+2640_4848+265 others(15): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141366 | |||||
| chr2:203141366
|
A | ATTTTTTT others(5): Show |
2 | a0003c0003t0004g0039a0003c0003t0004g0042 | 2 | HG01884.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.4848+2639_4848+265 others(16): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141366 | |||||
| chr2:203141366
|
A | ATTTTTTT others(6): Show |
5 | a0001c0001t0001g0204a0001c0001t0001g0252a0001c0001t0006g0259others(2): Show | 5 | HG02273.hp2 HG03516.hp2 HG03688.hp1 others(2): Show |
intron_variant | MODIFIER | c.4848+2638_4848+265 others(17): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141366 | |||||
| chr2:203141366
|
A | ATTTTTTT others(7): Show |
9 | a0001c0001t0002g0110a0001c0001t0002g0132a0001c0001t0002g0156others(6): Show | 9 | HG01109.hp2 HG01255.hp1 HG01361.hp1 others(6): Show |
intron_variant | MODIFIER | c.4848+2637_4848+265 others(18): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141366 | |||||
| chr2:203141366
|
A | ATTTTTTT others(8): Show |
4 | a0001c0001t0002g0099a0001c0001t0002g0292a0001c0001t0016g0155others(1): Show | 4 | HG02273.hp1 NA18949.hp2 NA18980.hp1 others(1): Show |
intron_variant | MODIFIER | c.4848+2636_4848+265 others(19): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141366 | |||||
| chr2:203141366
|
A | ATTTTTTT others(9): Show |
6 | a0001c0001t0002g0104a0001c0001t0002g0116a0001c0001t0002g0147others(3): Show | 6 | HG01361.hp2 HG02080.hp2 HG04115.hp2 others(3): Show |
intron_variant | MODIFIER | c.4848+2635_4848+265 others(20): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141366 | |||||
| chr2:203141366
|
A | ATTTTTTT others(10): Show |
3 | a0001c0001t0002g0098a0001c0001t0002g0162a0001c0001t0006g0254 | 3 | HG00438.hp2 HG04115.hp1 NA18940.hp2 |
intron_variant | MODIFIER | c.4848+2634_4848+265 others(21): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141366 | |||||
| chr2:203141366
|
A | T | 37 | a0001c0001t0002g0087a0001c0001t0002g0103a0001c0001t0002g0107others(34): Show | 37 | HG00544.hp2 HG01109.hp1 HG01358.hp1 others(34): Show |
intron_variant | MODIFIER | c.4848+2618A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203141366 | ||||||
| chr2:203141367
|
T | TTATTATT others(10): Show |
1 | a0004c0005t0009g0176 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.4848+2620_4848+262 others(21): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203141367 | |||||
| chr2:203141368
|
T | TA | 3 | a0001c0001t0004g0081a0002c0002t0003g0078a0002c0002t0008g0088 | 3 | NA18906.hp1 NA20129.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.4848+2620_4848+262 others(5): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203141368 | ||||||
| chr2:203141368
|
T | TATTATTA others(3): Show |
3 | a0001c0001t0001g0186a0001c0001t0001g0255a0001c0008t0001g0239 | 3 | HG02135.hp2 HG03834.hp2 NA19062.hp1 |
intron_variant | MODIFIER | c.4848+2620_4848+262 others(14): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203141368 | ||||||
| chr2:203141369
|
T | A | 11 | a0001c0001t0019g0279a0001c0001t0019g0280a0001c0001t0034g0058others(8): Show | 11 | HG02257.hp1 HG02622.hp2 HG03130.hp2 others(8): Show |
intron_variant | MODIFIER | c.4848+2621T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203141369 | ||||||
| chr2:203141370
|
T | A | 3 | a0002c0002t0003g0061a0002c0002t0003g0066a0002c0002t0008g0093 | 3 | HG01975.hp2 HG02886.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.4848+2622T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203141370 | ||||||
| chr2:203141372
|
T | A | 3 | a0001c0001t0034g0058a0002c0002t0003g0068a0002c0002t0025g0075 | 3 | HG02622.hp2 HG03139.hp2 NA18968.hp2 |
intron_variant | MODIFIER | c.4848+2624T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203141372 | ||||||
| chr2:203141373
|
T | A | 1 | a0001c0001t0039g0223 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.4848+2625T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203141373 | ||||||
| chr2:203141375
|
T | A | 3 | a0001c0001t0034g0058a0002c0002t0025g0075a0006c0011t0045g0023 | 3 | HG02622.hp2 HG03139.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.4848+2627T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203141375 | ||||||
| chr2:203141376
|
T | A | 3 | a0001c0001t0001g0013a0001c0001t0001g0249a0001c0001t0039g0223 | 3 | HG00597.hp2 HG03942.hp2 NA18949.hp1 |
intron_variant | MODIFIER | c.4848+2628T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203141376 | ||||||
| chr2:203141379
|
T | A | 2 | a0001c0001t0001g0013a0001c0001t0001g0249 | 2 | HG03942.hp2 NA18949.hp1 |
intron_variant | MODIFIER | c.4848+2631T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203141379 | ||||||
| chr2:203141398
|
T | C | 1 | a0001c0001t0044g0201 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.4848+2650T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203141398 | ||||||
| chr2:203141519
|
G | A | 260 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(257): Show | 260 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(257): Show |
intron_variant | MODIFIER | c.4848+2771G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203141519 | ||||||
| chr2:203141625
|
C | T | 2 | a0001c0001t0001g0238a0001c0001t0001g0258 | 2 | NA18945.hp1 NA18954.hp1 |
intron_variant | MODIFIER | c.4848+2877C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203141625 | ||||||
| chr2:203141731
|
C | T | 1 | a0018c0018t0022g0022 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.4849-2869C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203141731 | ||||||
| chr2:203141849
|
C | G | 2 | a0001c0001t0001g0263a0001c0001t0001g0264 | 2 | HG02630.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.4849-2751C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203141849 | ||||||
| chr2:203141914
|
T | G | 104 | a0001c0001t0001g0216a0001c0001t0002g0079a0001c0001t0002g0087others(101): Show | 104 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(101): Show |
intron_variant | MODIFIER | c.4849-2686T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203141914 | ||||||
| chr2:203142224
|
C | T | 1 | a0002c0002t0003g0068 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.4849-2376C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203142224 | ||||||
| chr2:203142402
|
C | T | 1 | a0001c0001t0016g0161 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.4849-2198C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203142402 | ||||||
| chr2:203142481
|
C | T | 3 | a0001c0001t0001g0243a0001c0001t0001g0244a0001c0001t0001g0287 | 3 | NA18970.hp2 NA18991.hp1 NA19009.hp2 |
intron_variant | MODIFIER | c.4849-2119C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203142481 | ||||||
| chr2:203142569
|
G | A | 2 | a0007c0010t0012g0101a0007c0010t0012g0102 | 2 | HG01515.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.4849-2031G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203142569 | ||||||
| chr2:203142828
|
C | T | 1 | a0001c0001t0001g0231 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.4849-1772C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203142828 | ||||||
| chr2:203142872
|
A | G | 1 | a0010c0015t0001g0214 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.4849-1728A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203142872 | ||||||
| chr2:203142890
|
G | T | 1 | a0006c0011t0045g0023 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.4849-1710G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203142890 | ||||||
| chr2:203143016
|
G | C | 258 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(255): Show | 258 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(255): Show |
intron_variant | MODIFIER | c.4849-1584G>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203143016 | ||||||
| chr2:203143396
|
A | AAAATATT others(46): Show |
6 | a0001c0001t0001g0216a0002c0002t0003g0046a0002c0002t0003g0048others(3): Show | 6 | HG02145.hp2 HG02451.hp2 HG02717.hp1 others(3): Show |
intron_variant | MODIFIER | c.4849-1201_4849-114 others(57): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203143396 | |||||
| chr2:203143470
|
G | T | 21 | a0003c0003t0004g0024a0003c0003t0004g0026a0003c0003t0004g0027others(18): Show | 21 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(18): Show |
intron_variant | MODIFIER | c.4849-1130G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203143470 | ||||||
| chr2:203143520
|
C | T | 1 | a0001c0001t0039g0223 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.4849-1080C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203143520 | ||||||
| chr2:203143676
|
A | G | 1 | a0001c0001t0002g0121 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.4849-924A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203143676 | ||||||
| chr2:203143711
|
C | T | 107 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(104): Show | 107 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(104): Show |
intron_variant | MODIFIER | c.4849-889C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203143711 | ||||||
| chr2:203143873
|
C | A | 1 | a0004c0005t0002g0171 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.4849-727C>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203143873 | ||||||
| chr2:203143931
|
G | A | 2 | a0002c0014t0003g0076a0019c0013t0003g0077 | 2 | HG03130.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.4849-669G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203143931 | ||||||
| chr2:203144126
|
G | T | 1 | a0001c0001t0001g0255 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.4849-474G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203144126 | ||||||
| chr2:203144210
|
C | CA | 17 | a0001c0001t0005g0277a0001c0001t0019g0279a0001c0001t0019g0280others(14): Show | 17 | HG00735.hp1 HG00738.hp2 HG01099.hp1 others(14): Show |
intron_variant | MODIFIER | c.4849-368dupA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203144210 | |||||
| chr2:203144210
|
CA | C | 38 | a0001c0001t0001g0014a0001c0001t0001g0222a0001c0001t0001g0224others(35): Show | 38 | HG00323.hp2 HG00733.hp1 HG01109.hp1 others(35): Show |
intron_variant | MODIFIER | c.4849-368delA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | 203144210 | |||||
| chr2:203144334
|
T | G | 13 | a0001c0001t0005g0277a0001c0001t0005g0283a0001c0001t0019g0279others(10): Show | 13 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.4849-266T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | chr2 | 203144334 | ||||||
| chr2:203145215
|
TATTG | T | 3 | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0252 | 3 | NA18747.hp1 NA18965.hp2 NA18995.hp1 |
intron_variant | MODIFIER | c.5304+59_5304+62del others(4): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 33/55 | INFO_REALIGN_3_PRIME | chr2 | 203145215 | |||||
| chr2:203145363
|
A | G | 3 | a0001c0009t0007g0055a0001c0009t0007g0056a0001c0009t0007g0057 | 3 | HG02976.hp1 HG03139.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.5304+203A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 33/55 | chr2 | 203145363 | ||||||
| chr2:203145386
|
G | A | 1 | a0001c0001t0002g0150 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.5304+226G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 33/55 | chr2 | 203145386 | ||||||
| chr2:203145550
|
C | G | 2 | a0001c0001t0033g0136a0002c0002t0003g0130 | 2 | HG02559.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.5304+390C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 33/55 | chr2 | 203145550 | ||||||
| chr2:203145781
|
G | C | 1 | a0003c0012t0011g0025 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.5304+621G>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 33/55 | chr2 | 203145781 | ||||||
| chr2:203145797
|
CA | C | 161 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(158): Show | 161 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(158): Show |
intron_variant | MODIFIER | c.5304+656delA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 33/55 | INFO_REALIGN_3_PRIME | chr2 | 203145797 | |||||
| chr2:203145813
|
A | G | 1 | a0001c0001t0001g0020 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.5304+653A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 33/55 | chr2 | 203145813 | ||||||
| chr2:203145938
|
A | C | 4 | a0001c0007t0002g0059a0001c0007t0002g0090a0001c0007t0002g0091others(1): Show | 4 | HG02145.hp1 HG02257.hp1 HG02622.hp1 others(1): Show |
intron_variant | MODIFIER | c.5304+778A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 33/55 | chr2 | 203145938 | ||||||
| chr2:203146043
|
A | G | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.5304+883A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 33/55 | chr2 | 203146043 | ||||||
| chr2:203146156
|
A | G | 1 | a0002c0002t0008g0080 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.5304+996A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 33/55 | chr2 | 203146156 | ||||||
| chr2:203146359
|
A | C | 6 | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0011others(3): Show | 6 | HG00408.hp2 HG02083.hp2 HG02135.hp1 others(3): Show |
intron_variant | MODIFIER | c.5304+1199A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 33/55 | chr2 | 203146359 | ||||||
| chr2:203146372
|
T | C | 1 | a0001c0001t0001g0225 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.5304+1212T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 33/55 | chr2 | 203146372 | ||||||
| chr2:203146866
|
G | T | 1 | a0001c0001t0006g0259 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.5304+1706G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 33/55 | chr2 | 203146866 | ||||||
| chr2:203146921
|
A | G | 2 | a0006c0011t0017g0018a0020c0017t0017g0017 | 2 | HG03225.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.5304+1761A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 33/55 | chr2 | 203146921 | ||||||
| chr2:203147068
|
G | A | 1 | a0001c0001t0001g0267 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.5304+1908G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 33/55 | chr2 | 203147068 | ||||||
| chr2:203147377
|
T | G | 2 | a0002c0002t0025g0075a0015c0021t0003g0074 | 2 | HG02257.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.5305-1614T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 33/55 | chr2 | 203147377 | ||||||
| chr2:203147569
|
A | G | 1 | a0001c0001t0002g0113 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.5305-1422A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 33/55 | chr2 | 203147569 | ||||||
| chr2:203147571
|
A | G | 2 | a0003c0012t0011g0025a0003c0012t0011g0043 | 2 | HG02559.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.5305-1420A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 33/55 | chr2 | 203147571 | ||||||
| chr2:203147987
|
A | C | 2 | a0001c0001t0014g0019a0001c0001t0014g0260 | 2 | HG02486.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.5305-1004A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 33/55 | chr2 | 203147987 | ||||||
| chr2:203148067
|
A | G | 106 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(103): Show | 106 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(103): Show |
intron_variant | MODIFIER | c.5305-924A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 33/55 | chr2 | 203148067 | ||||||
| chr2:203148148
|
CA | C | 21 | a0003c0003t0004g0024a0003c0003t0004g0026a0003c0003t0004g0027others(18): Show | 21 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(18): Show |
intron_variant | MODIFIER | c.5305-841delA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 33/55 | INFO_REALIGN_3_PRIME | chr2 | 203148148 | |||||
| chr2:203148182
|
A | G | 2 | a0001c0001t0014g0019a0001c0001t0014g0260 | 2 | HG02486.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.5305-809A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 33/55 | chr2 | 203148182 | ||||||
| chr2:203148300
|
A | C | 1 | a0001c0001t0002g0142 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.5305-691A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 33/55 | chr2 | 203148300 | ||||||
| chr2:203148387
|
T | C | 21 | a0003c0003t0004g0024a0003c0003t0004g0026a0003c0003t0004g0027others(18): Show | 21 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(18): Show |
intron_variant | MODIFIER | c.5305-604T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 33/55 | chr2 | 203148387 | ||||||
| chr2:203148389
|
A | G | 258 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(255): Show | 258 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(255): Show |
intron_variant | MODIFIER | c.5305-602A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 33/55 | chr2 | 203148389 | ||||||
| chr2:203148730
|
A | G | 1 | a0001c0001t0041g0054 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.5305-261A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 33/55 | chr2 | 203148730 | ||||||
| chr2:203148776
|
A | G | 1 | a0002c0002t0003g0046 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.5305-215A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 33/55 | chr2 | 203148776 | ||||||
| chr2:203149223
|
C | T | 21 | a0003c0003t0004g0024a0003c0003t0004g0026a0003c0003t0004g0027others(18): Show | 21 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(18): Show |
intron_variant | MODIFIER | c.5462+75C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 34/55 | chr2 | 203149223 | ||||||
| chr2:203149547
|
C | T | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.5462+399C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 34/55 | chr2 | 203149547 | ||||||
| chr2:203149588
|
C | G | 3 | a0001c0001t0001g0243a0001c0001t0001g0244a0001c0001t0001g0287 | 3 | NA18970.hp2 NA18991.hp1 NA19009.hp2 |
intron_variant | MODIFIER | c.5462+440C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 34/55 | chr2 | 203149588 | ||||||
| chr2:203149932
|
G | A | 256 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(253): Show | 256 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(253): Show |
intron_variant | MODIFIER | c.5462+784G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 34/55 | chr2 | 203149932 | ||||||
| chr2:203149941
|
C | A | 2 | a0001c0001t0023g0045a0001c0001t0024g0016 | 2 | HG01884.hp2 HG02055.hp2 |
intron_variant | MODIFIER | c.5462+793C>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 34/55 | chr2 | 203149941 | ||||||
| chr2:203150542
|
T | C | 1 | a0002c0002t0003g0062 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.5463-923T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 34/55 | chr2 | 203150542 | ||||||
| chr2:203150608
|
G | T | 1 | a0001c0001t0001g0213 | 1 | NA18974.hp2 | intron_variant | MODIFIER | c.5463-857G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 34/55 | chr2 | 203150608 | ||||||
| chr2:203150645
|
T | G | 2 | a0001c0001t0002g0079a0001c0001t0002g0089 | 2 | HG01257.hp1 HG01952.hp1 |
intron_variant | MODIFIER | c.5463-820T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 34/55 | chr2 | 203150645 | ||||||
| chr2:203150820
|
C | G | 1 | a0001c0001t0015g0128 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.5463-645C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 34/55 | chr2 | 203150820 | ||||||
| chr2:203151067
|
C | T | 2 | a0001c0001t0014g0019a0001c0001t0014g0260 | 2 | HG02486.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.5463-398C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 34/55 | chr2 | 203151067 | ||||||
| chr2:203151103
|
G | A | 1 | a0001c0001t0039g0223 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.5463-362G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 34/55 | chr2 | 203151103 | ||||||
| chr2:203151249
|
T | C | 12 | a0001c0001t0005g0283a0001c0001t0019g0279a0001c0001t0019g0280others(9): Show | 12 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(9): Show |
intron_variant | MODIFIER | c.5463-216T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 34/55 | chr2 | 203151249 | ||||||
| chr2:203151258
|
G | C | 2 | a0001c0001t0023g0045a0001c0001t0024g0016 | 2 | HG01884.hp2 HG02055.hp2 |
intron_variant | MODIFIER | c.5463-207G>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 34/55 | chr2 | 203151258 | ||||||
| chr2:203151365
|
C | T | 1 | a0002c0002t0008g0080 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.5463-100C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 34/55 | chr2 | 203151365 | ||||||
| chr2:203151826
|
G | C | 2 | a0001c0001t0023g0045a0001c0001t0024g0016 | 2 | HG01884.hp2 HG02055.hp2 |
intron_variant | MODIFIER | c.5587+237G>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203151826 | ||||||
| chr2:203151996
|
C | T | 2 | a0007c0010t0012g0101a0007c0010t0012g0102 | 2 | HG01515.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.5587+407C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203151996 | ||||||
| chr2:203152235
|
G | A | 2 | a0001c0001t0014g0019a0001c0001t0014g0260 | 2 | HG02486.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.5587+646G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203152235 | ||||||
| chr2:203152352
|
GA | G | 73 | a0001c0001t0001g0020a0001c0001t0001g0177a0001c0001t0001g0185others(70): Show | 73 | HG00323.hp2 HG00423.hp2 HG00597.hp2 others(70): Show |
intron_variant | MODIFIER | c.5587+777delA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | INFO_REALIGN_3_PRIME | chr2 | 203152352 | |||||
| chr2:203152586
|
G | A | 1 | a0001c0001t0043g0096 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.5587+997G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203152586 | ||||||
| chr2:203152915
|
G | A | 1 | a0020c0017t0017g0017 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.5587+1326G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203152915 | ||||||
| chr2:203152954
|
C | A | 1 | a0001c0001t0015g0128 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.5587+1365C>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203152954 | ||||||
| chr2:203152987
|
G | A | 2 | a0001c0001t0023g0045a0001c0001t0024g0016 | 2 | HG01884.hp2 HG02055.hp2 |
intron_variant | MODIFIER | c.5587+1398G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203152987 | ||||||
| chr2:203153037
|
TCAA | T | 38 | a0001c0001t0001g0051a0001c0001t0001g0052a0001c0001t0002g0098others(35): Show | 38 | HG00423.hp1 HG00438.hp2 HG00609.hp1 others(35): Show |
intron_variant | MODIFIER | c.5587+1467_5587+146 others(7): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | INFO_REALIGN_3_PRIME | chr2 | 203153037 | |||||
| chr2:203153070
|
T | C | 7 | a0001c0001t0002g0129a0001c0001t0002g0133a0005c0006t0002g0100others(4): Show | 7 | HG00735.hp2 HG00741.hp2 HG01081.hp2 others(4): Show |
intron_variant | MODIFIER | c.5587+1481T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203153070 | ||||||
| chr2:203153089
|
T | C | 2 | a0001c0001t0014g0019a0001c0001t0014g0260 | 2 | HG02486.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.5587+1500T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203153089 | ||||||
| chr2:203153174
|
C | T | 2 | a0006c0011t0017g0018a0020c0017t0017g0017 | 2 | HG03225.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.5587+1585C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203153174 | ||||||
| chr2:203153180
|
T | G | 1 | a0018c0018t0022g0022 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.5587+1591T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203153180 | ||||||
| chr2:203153200
|
A | G | 1 | a0001c0001t0001g0258 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.5587+1611A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203153200 | ||||||
| chr2:203153214
|
C | T | 13 | a0001c0001t0005g0277a0001c0001t0005g0283a0001c0001t0019g0279others(10): Show | 13 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.5587+1625C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203153214 | ||||||
| chr2:203153302
|
A | AT | 215 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(212): Show | 215 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(212): Show |
intron_variant | MODIFIER | c.5587+1732dupT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | INFO_REALIGN_3_PRIME | chr2 | 203153302 | |||||
| chr2:203153302
|
A | ATT | 18 | a0001c0001t0001g0209a0001c0001t0001g0244a0001c0001t0001g0248others(15): Show | 18 | HG00597.hp2 HG00642.hp2 HG00733.hp2 others(15): Show |
intron_variant | MODIFIER | c.5587+1731_5587+173 others(6): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | INFO_REALIGN_3_PRIME | chr2 | 203153302 | |||||
| chr2:203153302
|
ATTTTTTT others(3): Show |
A | 2 | a0001c0001t0001g0051a0001c0001t0001g0052 | 2 | HG02258.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.5587+1723_5587+173 others(14): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | INFO_REALIGN_3_PRIME | chr2 | 203153302 | |||||
| chr2:203153330
|
C | A | 2 | a0001c0001t0023g0045a0001c0001t0024g0016 | 2 | HG01884.hp2 HG02055.hp2 |
intron_variant | MODIFIER | c.5587+1741C>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203153330 | ||||||
| chr2:203153430
|
C | T | 1 | a0001c0001t0002g0129 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.5587+1841C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203153430 | ||||||
| chr2:203153722
|
G | C | 1 | a0001c0004t0005g0282 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.5587+2133G>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203153722 | ||||||
| chr2:203153806
|
C | T | 254 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(251): Show | 254 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(251): Show |
intron_variant | MODIFIER | c.5587+2217C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203153806 | ||||||
| chr2:203153929
|
T | G | 1 | a0001c0001t0001g0266 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.5587+2340T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203153929 | ||||||
| chr2:203154137
|
G | A | 2 | a0001c0001t0023g0045a0001c0001t0024g0016 | 2 | HG01884.hp2 HG02055.hp2 |
intron_variant | MODIFIER | c.5587+2548G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203154137 | ||||||
| chr2:203154142
|
A | AGGAGAAT others(18): Show |
21 | a0003c0003t0004g0024a0003c0003t0004g0026a0003c0003t0004g0027others(18): Show | 21 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(18): Show |
intron_variant | MODIFIER | c.5587+2558_5587+258 others(29): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | INFO_REALIGN_3_PRIME | chr2 | 203154142 | |||||
| chr2:203154160
|
C | T | 1 | a0001c0001t0002g0104 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.5587+2571C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203154160 | ||||||
| chr2:203154168
|
G | A | 4 | a0001c0001t0001g0215a0001c0001t0001g0217a0001c0001t0001g0218others(1): Show | 4 | HG02572.hp2 HG02723.hp2 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.5587+2579G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203154168 | ||||||
| chr2:203154235
|
CA | C | 28 | a0001c0001t0001g0265a0001c0001t0023g0045a0002c0002t0003g0046others(25): Show | 28 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(25): Show |
intron_variant | MODIFIER | c.5587+2663delA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | INFO_REALIGN_3_PRIME | chr2 | 203154235 | |||||
| chr2:203154608
|
T | C | 256 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(253): Show | 256 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(253): Show |
intron_variant | MODIFIER | c.5587+3019T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203154608 | ||||||
| chr2:203154640
|
C | G | 1 | a0001c0001t0002g0104 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.5587+3051C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203154640 | ||||||
| chr2:203154705
|
A | G | 1 | a0009c0033t0001g0203 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.5588-2994A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203154705 | ||||||
| chr2:203154852
|
T | A | 4 | a0002c0002t0003g0083a0002c0002t0003g0084a0002c0002t0003g0085others(1): Show | 4 | HG02630.hp1 HG02723.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.5588-2847T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203154852 | ||||||
| chr2:203154934
|
C | CA | 235 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006others(232): Show | 235 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(232): Show |
intron_variant | MODIFIER | c.5588-2746dupA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | INFO_REALIGN_3_PRIME | chr2 | 203154934 | |||||
| chr2:203154934
|
C | CAA | 16 | a0001c0001t0001g0001a0001c0001t0001g0211a0001c0001t0001g0225others(13): Show | 16 | HG00438.hp2 HG00609.hp1 HG01109.hp2 others(13): Show |
intron_variant | MODIFIER | c.5588-2747_5588-274 others(6): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | INFO_REALIGN_3_PRIME | chr2 | 203154934 | |||||
| chr2:203155039
|
G | A | 13 | a0001c0001t0005g0277a0001c0001t0005g0283a0001c0001t0019g0279others(10): Show | 13 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.5588-2660G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203155039 | ||||||
| chr2:203155121
|
G | A | 256 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(253): Show | 256 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(253): Show |
intron_variant | MODIFIER | c.5588-2578G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203155121 | ||||||
| chr2:203155133
|
A | T | 1 | a0004c0005t0009g0176 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.5588-2566A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203155133 | ||||||
| chr2:203155247
|
C | CA | 164 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(161): Show | 164 | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(161): Show |
intron_variant | MODIFIER | c.5588-2436dupA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | INFO_REALIGN_3_PRIME | chr2 | 203155247 | |||||
| chr2:203155247
|
C | CAA | 86 | a0001c0001t0001g0020a0001c0001t0001g0177a0001c0001t0001g0185others(83): Show | 86 | HG00323.hp2 HG00423.hp1 HG00423.hp2 others(83): Show |
intron_variant | MODIFIER | c.5588-2437_5588-243 others(6): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | INFO_REALIGN_3_PRIME | chr2 | 203155247 | |||||
| chr2:203155571
|
G | A | 1 | a0002c0002t0003g0021 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.5588-2128G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203155571 | ||||||
| chr2:203155658
|
G | C | 1 | a0001c0001t0005g0277 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.5588-2041G>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203155658 | ||||||
| chr2:203155676
|
G | C | 1 | a0002c0002t0003g0060 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.5588-2023G>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203155676 | ||||||
| chr2:203155894
|
G | A | 1 | a0001c0001t0001g0020 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.5588-1805G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203155894 | ||||||
| chr2:203155968
|
A | G | 1 | a0006c0011t0045g0023 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.5588-1731A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203155968 | ||||||
| chr2:203156064
|
C | A | 2 | a0003c0003t0010g0041a0003c0003t0010g0044 | 2 | HG02895.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.5588-1635C>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203156064 | ||||||
| chr2:203156074
|
A | G | 115 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(112): Show | 115 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(112): Show |
intron_variant | MODIFIER | c.5588-1625A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203156074 | ||||||
| chr2:203156196
|
G | T | 1 | a0001c0001t0041g0054 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.5588-1503G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203156196 | ||||||
| chr2:203156241
|
T | C | 1 | a0018c0018t0022g0022 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.5588-1458T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203156241 | ||||||
| chr2:203156383
|
C | T | 1 | a0001c0001t0039g0223 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.5588-1316C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203156383 | ||||||
| chr2:203156478
|
C | T | 1 | a0001c0001t0002g0292 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.5588-1221C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203156478 | ||||||
| chr2:203156666
|
G | A | 1 | a0001c0004t0005g0282 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.5588-1033G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203156666 | ||||||
| chr2:203156713
|
A | G | 256 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(253): Show | 256 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(253): Show |
intron_variant | MODIFIER | c.5588-986A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203156713 | ||||||
| chr2:203156987
|
C | T | 1 | a0001c0001t0002g0133 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.5588-712C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203156987 | ||||||
| chr2:203157051
|
C | T | 21 | a0003c0003t0004g0024a0003c0003t0004g0026a0003c0003t0004g0027others(18): Show | 21 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(18): Show |
intron_variant | MODIFIER | c.5588-648C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203157051 | ||||||
| chr2:203157249
|
A | G | 2 | a0001c0001t0023g0045a0001c0001t0024g0016 | 2 | HG01884.hp2 HG02055.hp2 |
intron_variant | MODIFIER | c.5588-450A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203157249 | ||||||
| chr2:203157297
|
G | A | 258 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(255): Show | 258 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(255): Show |
intron_variant | MODIFIER | c.5588-402G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203157297 | ||||||
| chr2:203157532
|
C | T | 1 | a0018c0018t0022g0022 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.5588-167C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 35/55 | chr2 | 203157532 | ||||||
| chr2:203158269
|
C | T | 2 | a0001c0001t0014g0019a0001c0001t0014g0260 | 2 | HG02486.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.5714+444C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203158269 | ||||||
| chr2:203158782
|
T | C | 4 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(1): Show | 4 | HG01257.hp2 HG01258.hp1 HG02293.hp2 others(1): Show |
intron_variant | MODIFIER | c.5714+957T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203158782 | ||||||
| chr2:203158815
|
G | GT | 203 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(200): Show | 203 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(200): Show |
intron_variant | MODIFIER | c.5714+1012dupT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | INFO_REALIGN_3_PRIME | chr2 | 203158815 | |||||
| chr2:203158815
|
G | GTT | 36 | a0001c0001t0001g0010a0001c0001t0001g0020a0001c0001t0001g0189others(33): Show | 36 | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(33): Show |
intron_variant | MODIFIER | c.5714+1011_5714+101 others(6): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | INFO_REALIGN_3_PRIME | chr2 | 203158815 | |||||
| chr2:203158815
|
G | T | 1 | a0001c0001t0002g0156 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.5714+990G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203158815 | ||||||
| chr2:203158881
|
G | A | 21 | a0003c0003t0004g0024a0003c0003t0004g0026a0003c0003t0004g0027others(18): Show | 21 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(18): Show |
intron_variant | MODIFIER | c.5714+1056G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203158881 | ||||||
| chr2:203159001
|
C | T | 21 | a0003c0003t0004g0024a0003c0003t0004g0026a0003c0003t0004g0027others(18): Show | 21 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(18): Show |
intron_variant | MODIFIER | c.5714+1176C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203159001 | ||||||
| chr2:203159141
|
A | G | 1 | a0001c0001t0001g0219 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.5714+1316A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203159141 | ||||||
| chr2:203159332
|
C | A | 1 | a0001c0001t0002g0164 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.5714+1507C>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203159332 | ||||||
| chr2:203159509
|
C | T | 1 | a0001c0001t0001g0194 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.5714+1684C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203159509 | ||||||
| chr2:203159646
|
A | C | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.5714+1821A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203159646 | ||||||
| chr2:203160077
|
A | T | 1 | a0003c0012t0011g0025 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.5714+2252A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203160077 | ||||||
| chr2:203160077
|
AT | A | 131 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(128): Show | 131 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(128): Show |
intron_variant | MODIFIER | c.5714+2272delT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | INFO_REALIGN_3_PRIME | chr2 | 203160077 | |||||
| chr2:203160144
|
A | G | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.5714+2319A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203160144 | ||||||
| chr2:203160328
|
G | A | 254 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(251): Show | 254 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(251): Show |
intron_variant | MODIFIER | c.5714+2503G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203160328 | ||||||
| chr2:203160665
|
A | G | 92 | a0001c0001t0001g0020a0001c0001t0001g0051a0001c0001t0001g0052others(89): Show | 92 | HG00323.hp2 HG00423.hp2 HG00597.hp2 others(89): Show |
intron_variant | MODIFIER | c.5714+2840A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203160665 | ||||||
| chr2:203161009
|
A | G | 2 | a0001c0001t0023g0045a0001c0001t0024g0016 | 2 | HG01884.hp2 HG02055.hp2 |
intron_variant | MODIFIER | c.5714+3184A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203161009 | ||||||
| chr2:203161055
|
C | T | 73 | a0001c0001t0001g0020a0001c0001t0001g0177a0001c0001t0001g0185others(70): Show | 73 | HG00323.hp2 HG00423.hp2 HG00597.hp2 others(70): Show |
intron_variant | MODIFIER | c.5714+3230C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203161055 | ||||||
| chr2:203161093
|
C | T | 1 | a0001c0001t0034g0058 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.5714+3268C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203161093 | ||||||
| chr2:203161308
|
T | C | 253 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(250): Show | 253 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(250): Show |
intron_variant | MODIFIER | c.5714+3483T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203161308 | ||||||
| chr2:203161326
|
C | CA | 9 | a0001c0001t0001g0188a0001c0001t0002g0113a0001c0001t0002g0157others(6): Show | 9 | HG00408.hp2 HG01175.hp2 HG03225.hp2 others(6): Show |
intron_variant | MODIFIER | c.5714+3521dupA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | INFO_REALIGN_3_PRIME | chr2 | 203161326 | |||||
| chr2:203161326
|
CA | C | 8 | a0001c0001t0001g0248a0001c0001t0002g0124a0001c0001t0024g0016others(5): Show | 8 | HG01515.hp1 HG01515.hp2 HG02055.hp2 others(5): Show |
intron_variant | MODIFIER | c.5714+3521delA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | INFO_REALIGN_3_PRIME | chr2 | 203161326 | |||||
| chr2:203161628
|
CAAAT | C | 14 | a0001c0001t0005g0283a0001c0001t0019g0280a0001c0004t0005g0273others(11): Show | 14 | HG00438.hp1 HG00733.hp1 HG00735.hp1 others(11): Show |
intron_variant | MODIFIER | c.5714+3855_5714+385 others(8): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | INFO_REALIGN_3_PRIME | chr2 | 203161628 | |||||
| chr2:203161628
|
CAAATAAA others(1): Show |
C | 32 | a0001c0001t0004g0081a0001c0001t0005g0277a0001c0001t0019g0279others(29): Show | 32 | HG00738.hp1 HG01109.hp1 HG01167.hp1 others(29): Show |
intron_variant | MODIFIER | c.5714+3851_5714+385 others(12): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | INFO_REALIGN_3_PRIME | chr2 | 203161628 | |||||
| chr2:203161628
|
CAAATAAA others(5): Show |
C | 36 | a0001c0001t0001g0195a0001c0001t0001g0202a0001c0001t0001g0237others(33): Show | 36 | HG00423.hp1 HG00544.hp1 HG00738.hp2 others(33): Show |
intron_variant | MODIFIER | c.5714+3847_5714+385 others(16): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | INFO_REALIGN_3_PRIME | chr2 | 203161628 | |||||
| chr2:203161628
|
CAAATAAA others(9): Show |
C | 206 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(203): Show | 206 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(203): Show |
intron_variant | MODIFIER | c.5714+3843_5714+385 others(20): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | INFO_REALIGN_3_PRIME | chr2 | 203161628 | |||||
| chr2:203161628
|
CAAATAAA others(21): Show |
C | 1 | a0001c0001t0041g0054 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.5714+3831_5714+385 others(32): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | INFO_REALIGN_3_PRIME | chr2 | 203161628 | |||||
| chr2:203161781
|
T | A | 6 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(3): Show | 6 | HG01257.hp2 HG01258.hp1 HG02293.hp2 others(3): Show |
intron_variant | MODIFIER | c.5714+3956T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203161781 | ||||||
| chr2:203161853
|
G | A | 3 | a0001c0009t0007g0055a0001c0009t0007g0056a0001c0009t0007g0057 | 3 | HG02976.hp1 HG03139.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.5714+4028G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203161853 | ||||||
| chr2:203161929
|
C | T | 2 | a0001c0001t0002g0123a0001c0001t0002g0131 | 2 | HG01256.hp2 HG01258.hp2 |
intron_variant | MODIFIER | c.5714+4104C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203161929 | ||||||
| chr2:203162019
|
A | AT | 23 | a0001c0001t0001g0020a0001c0001t0001g0258a0001c0001t0002g0137others(20): Show | 23 | HG00408.hp1 HG00642.hp1 HG01255.hp1 others(20): Show |
intron_variant | MODIFIER | c.5715-4108dupT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | INFO_REALIGN_3_PRIME | chr2 | 203162019 | |||||
| chr2:203162019
|
AT | A | 14 | a0001c0001t0001g0243a0001c0001t0001g0245a0001c0001t0001g0261others(11): Show | 14 | HG01167.hp1 HG01168.hp1 HG01256.hp1 others(11): Show |
intron_variant | MODIFIER | c.5715-4108delT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | INFO_REALIGN_3_PRIME | chr2 | 203162019 | |||||
| chr2:203162330
|
T | G | 1 | a0001c0008t0001g0239 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.5715-3819T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203162330 | ||||||
| chr2:203162448
|
T | C | 1 | a0002c0002t0003g0060 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.5715-3701T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203162448 | ||||||
| chr2:203162517
|
C | T | 1 | a0001c0001t0005g0283 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.5715-3632C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203162517 | ||||||
| chr2:203162978
|
G | A | 13 | a0001c0001t0005g0277a0001c0001t0005g0283a0001c0001t0019g0279others(10): Show | 13 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.5715-3171G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203162978 | ||||||
| chr2:203163027
|
A | G | 274 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(271): Show | 274 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(271): Show |
intron_variant | MODIFIER | c.5715-3122A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203163027 | ||||||
| chr2:203163154
|
C | T | 1 | a0003c0003t0004g0024 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.5715-2995C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203163154 | ||||||
| chr2:203163309
|
C | T | 1 | a0001c0019t0030g0180 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.5715-2840C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203163309 | ||||||
| chr2:203163347
|
A | G | 1 | a0006c0011t0045g0023 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.5715-2802A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203163347 | ||||||
| chr2:203163436
|
T | G | 21 | a0003c0003t0004g0024a0003c0003t0004g0026a0003c0003t0004g0027others(18): Show | 21 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(18): Show |
intron_variant | MODIFIER | c.5715-2713T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203163436 | ||||||
| chr2:203163841
|
C | T | 139 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(136): Show | 139 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(136): Show |
intron_variant | MODIFIER | c.5715-2308C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203163841 | ||||||
| chr2:203164263
|
A | C | 111 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(108): Show | 111 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(108): Show |
intron_variant | MODIFIER | c.5715-1886A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203164263 | ||||||
| chr2:203164430
|
T | C | 139 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(136): Show | 139 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(136): Show |
intron_variant | MODIFIER | c.5715-1719T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203164430 | ||||||
| chr2:203164464
|
G | A | 1 | a0001c0023t0002g0169 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.5715-1685G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203164464 | ||||||
| chr2:203164572
|
G | T | 139 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(136): Show | 139 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(136): Show |
intron_variant | MODIFIER | c.5715-1577G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203164572 | ||||||
| chr2:203164667
|
A | G | 3 | a0003c0003t0004g0031a0003c0003t0004g0033a0003c0003t0004g0036 | 3 | HG02258.hp2 HG02818.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.5715-1482A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203164667 | ||||||
| chr2:203164861
|
C | CT | 119 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(116): Show | 119 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(116): Show |
intron_variant | MODIFIER | c.5715-1271dupT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | INFO_REALIGN_3_PRIME | chr2 | 203164861 | |||||
| chr2:203164861
|
CT | C | 9 | a0001c0001t0002g0111a0001c0001t0002g0124a0001c0001t0002g0125others(6): Show | 9 | HG01081.hp2 HG01099.hp1 HG01169.hp2 others(6): Show |
intron_variant | MODIFIER | c.5715-1271delT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | INFO_REALIGN_3_PRIME | chr2 | 203164861 | |||||
| chr2:203164938
|
C | T | 1 | a0006c0011t0045g0023 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.5715-1211C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203164938 | ||||||
| chr2:203165018
|
C | T | 4 | a0001c0001t0002g0124a0001c0001t0002g0125a0001c0001t0002g0126others(1): Show | 4 | NA18974.hp1 NA18984.hp2 NA19003.hp1 others(1): Show |
intron_variant | MODIFIER | c.5715-1131C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203165018 | ||||||
| chr2:203165103
|
C | T | 1 | a0001c0001t0002g0087 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.5715-1046C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203165103 | ||||||
| chr2:203165151
|
G | A | 1 | a0015c0021t0003g0074 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.5715-998G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203165151 | ||||||
| chr2:203165293
|
T | C | 5 | a0001c0001t0001g0212a0001c0001t0001g0221a0001c0001t0001g0222others(2): Show | 5 | HG00323.hp2 HG01168.hp2 HG01175.hp1 others(2): Show |
intron_variant | MODIFIER | c.5715-856T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203165293 | ||||||
| chr2:203165694
|
C | T | 1 | a0002c0002t0003g0048 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.5715-455C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203165694 | ||||||
| chr2:203165742
|
A | G | 1 | a0001c0001t0019g0280 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.5715-407A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203165742 | ||||||
| chr2:203165743
|
T | A | 1 | a0001c0001t0019g0280 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.5715-406T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203165743 | ||||||
| chr2:203165745
|
A | ATTTATAT others(28): Show |
1 | a0001c0001t0019g0280 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.5715-404_5715-403i others(37): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203165745 | ||||||
| chr2:203165939
|
A | C | 1 | a0001c0001t0024g0016 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.5715-210A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203165939 | ||||||
| chr2:203166020
|
C | G | 21 | a0003c0003t0004g0024a0003c0003t0004g0026a0003c0003t0004g0027others(18): Show | 21 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(18): Show |
intron_variant | MODIFIER | c.5715-129C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203166020 | ||||||
| chr2:203166043
|
T | G | 1 | a0001c0001t0002g0110 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.5715-106T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 36/55 | chr2 | 203166043 | ||||||
| chr2:203166363
|
A | G | 2 | a0001c0001t0001g0226a0001c0001t0001g0227 | 2 | NA18986.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.5863+66A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 37/55 | chr2 | 203166363 | ||||||
| chr2:203166414
|
G | A | 13 | a0001c0001t0005g0277a0001c0001t0005g0283a0001c0001t0019g0279others(10): Show | 13 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.5863+117G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 37/55 | chr2 | 203166414 | ||||||
| chr2:203166507
|
A | T | 5 | a0005c0006t0002g0100a0005c0006t0002g0160a0005c0006t0002g0163others(2): Show | 5 | HG00735.hp2 HG00741.hp2 HG03491.hp1 others(2): Show |
intron_variant | MODIFIER | c.5863+210A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 37/55 | chr2 | 203166507 | ||||||
| chr2:203166559
|
T | A | 2 | a0001c0001t0001g0052a0006c0011t0045g0023 | 2 | HG03195.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.5863+262T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 37/55 | chr2 | 203166559 | ||||||
| chr2:203166637
|
C | T | 1 | a0001c0001t0041g0054 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.5863+340C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 37/55 | chr2 | 203166637 | ||||||
| chr2:203166785
|
A | C | 250 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(247): Show | 250 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(247): Show |
intron_variant | MODIFIER | c.5864-442A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 37/55 | chr2 | 203166785 | ||||||
| chr2:203167045
|
G | C | 2 | a0001c0001t0023g0045a0001c0001t0024g0016 | 2 | HG01884.hp2 HG02055.hp2 |
intron_variant | MODIFIER | c.5864-182G>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 37/55 | chr2 | 203167045 | ||||||
| chr2:203167173
|
T | C | 1 | a0001c0001t0001g0195 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.5864-54T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 37/55 | chr2 | 203167173 | ||||||
| chr2:203167202
|
G | A | 1 | a0001c0001t0024g0016 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.5864-25G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 37/55 | chr2 | 203167202 | ||||||
| chr2:203167219
|
G | A | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | splice_region_variant&intron_variant | LOW | c.5864-8G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 37/55 | chr2 | 203167219 | ||||||
| chr2:203167383
|
A | G | 1 | a0002c0002t0008g0080 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.5997+23A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 38/55 | chr2 | 203167383 | ||||||
| chr2:203167505
|
G | A | 2 | a0001c0001t0023g0045a0001c0001t0024g0016 | 2 | HG01884.hp2 HG02055.hp2 |
intron_variant | MODIFIER | c.5997+145G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 38/55 | chr2 | 203167505 | ||||||
| chr2:203167511
|
A | G | 1 | a0001c0001t0001g0188 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.5997+151A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 38/55 | chr2 | 203167511 | ||||||
| chr2:203167600
|
C | T | 248 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(245): Show | 248 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(245): Show |
intron_variant | MODIFIER | c.5997+240C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 38/55 | chr2 | 203167600 | ||||||
| chr2:203167831
|
G | T | 1 | a0001c0019t0030g0180 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.5997+471G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 38/55 | chr2 | 203167831 | ||||||
| chr2:203167976
|
G | T | 1 | a0001c0001t0001g0249 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.5997+616G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 38/55 | chr2 | 203167976 | ||||||
| chr2:203168155
|
A | T | 3 | a0001c0009t0007g0055a0001c0009t0007g0056a0001c0009t0007g0057 | 3 | HG02976.hp1 HG03139.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.5997+795A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 38/55 | chr2 | 203168155 | ||||||
| chr2:203168302
|
T | C | 1 | a0001c0001t0002g0151 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.5997+942T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 38/55 | chr2 | 203168302 | ||||||
| chr2:203168446
|
G | A | 2 | a0002c0014t0003g0076a0019c0013t0003g0077 | 2 | HG03130.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.5997+1086G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 38/55 | chr2 | 203168446 | ||||||
| chr2:203168801
|
G | A | 2 | a0001c0001t0014g0019a0001c0001t0014g0260 | 2 | HG02486.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.5998-946G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 38/55 | chr2 | 203168801 | ||||||
| chr2:203168823
|
G | A | 1 | a0001c0001t0001g0215 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.5998-924G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 38/55 | chr2 | 203168823 | ||||||
| chr2:203168870
|
G | A | 1 | a0002c0002t0003g0060 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.5998-877G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 38/55 | chr2 | 203168870 | ||||||
| chr2:203168881
|
G | A | 1 | a0006c0011t0045g0023 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.5998-866G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 38/55 | chr2 | 203168881 | ||||||
| chr2:203168893
|
C | CA | 232 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(229): Show | 232 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(229): Show |
intron_variant | MODIFIER | c.5998-834dupA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 38/55 | INFO_REALIGN_3_PRIME | chr2 | 203168893 | |||||
| chr2:203168893
|
C | CAA | 14 | a0001c0001t0001g0189a0001c0001t0001g0193a0001c0001t0001g0196others(11): Show | 14 | HG00673.hp1 HG00741.hp1 HG01081.hp2 others(11): Show |
intron_variant | MODIFIER | c.5998-835_5998-834d others(4): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 38/55 | INFO_REALIGN_3_PRIME | chr2 | 203168893 | |||||
| chr2:203169128
|
A | G | 7 | a0001c0001t0006g0228a0001c0001t0006g0230a0001c0001t0006g0232others(4): Show | 7 | HG00642.hp1 HG01255.hp1 HG01358.hp1 others(4): Show |
intron_variant | MODIFIER | c.5998-619A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 38/55 | chr2 | 203169128 | ||||||
| chr2:203169388
|
T | TA | 123 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(120): Show | 123 | HG00323.hp2 HG00408.hp2 HG00423.hp1 others(120): Show |
intron_variant | MODIFIER | c.5998-336dupA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 38/55 | INFO_REALIGN_3_PRIME | chr2 | 203169388 | |||||
| chr2:203169388
|
T | TAA | 25 | a0001c0001t0001g0010a0001c0001t0001g0020a0001c0001t0001g0208others(22): Show | 25 | HG00423.hp2 HG00438.hp1 HG00597.hp2 others(22): Show |
intron_variant | MODIFIER | c.5998-337_5998-336d others(4): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 38/55 | INFO_REALIGN_3_PRIME | chr2 | 203169388 | |||||
| chr2:203169412
|
C | A | 4 | a0001c0007t0002g0059a0001c0007t0002g0090a0001c0007t0002g0091others(1): Show | 4 | HG02145.hp1 HG02257.hp1 HG02622.hp1 others(1): Show |
intron_variant | MODIFIER | c.5998-335C>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 38/55 | chr2 | 203169412 | ||||||
| chr2:203169460
|
A | G | 250 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(247): Show | 250 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(247): Show |
intron_variant | MODIFIER | c.5998-287A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 38/55 | chr2 | 203169460 | ||||||
| chr2:203169555
|
T | A | 1 | a0001c0001t0035g0256 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.5998-192T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 38/55 | chr2 | 203169555 | ||||||
| chr2:203170059
|
C | T | 3 | a0001c0001t0001g0011a0001c0001t0040g0012a0001c0024t0001g0005 | 3 | HG00408.hp2 HG02083.hp2 HG02135.hp1 |
intron_variant | MODIFIER | c.6102+208C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 39/55 | chr2 | 203170059 | ||||||
| chr2:203170244
|
C | T | 139 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(136): Show | 139 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(136): Show |
intron_variant | MODIFIER | c.6102+393C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 39/55 | chr2 | 203170244 | ||||||
| chr2:203170304
|
G | A | 3 | a0006c0011t0017g0018a0018c0018t0022g0022a0020c0017t0017g0017 | 3 | HG02109.hp1 HG03225.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.6102+453G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 39/55 | chr2 | 203170304 | ||||||
| chr2:203170856
|
TA | T | 4 | a0001c0001t0001g0225a0001c0001t0001g0226a0001c0001t0001g0227others(1): Show | 4 | HG02080.hp1 NA18986.hp1 NA19066.hp1 others(1): Show |
intron_variant | MODIFIER | c.6102+1007delA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 39/55 | INFO_REALIGN_3_PRIME | chr2 | 203170856 | |||||
| chr2:203170992
|
T | C | 255 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(252): Show | 255 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(252): Show |
intron_variant | MODIFIER | c.6103-936T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 39/55 | chr2 | 203170992 | ||||||
| chr2:203171119
|
A | G | 3 | a0001c0009t0007g0055a0001c0009t0007g0056a0001c0009t0007g0057 | 3 | HG02976.hp1 HG03139.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.6103-809A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 39/55 | chr2 | 203171119 | ||||||
| chr2:203171124
|
G | A | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.6103-804G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 39/55 | chr2 | 203171124 | ||||||
| chr2:203171289
|
TAATAA | T | 116 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(113): Show | 116 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(113): Show |
intron_variant | MODIFIER | c.6103-630_6103-626d others(7): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 39/55 | INFO_REALIGN_3_PRIME | chr2 | 203171289 | |||||
| chr2:203171340
|
T | C | 254 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(251): Show | 254 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(251): Show |
intron_variant | MODIFIER | c.6103-588T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 39/55 | chr2 | 203171340 | ||||||
| chr2:203171634
|
T | G | 13 | a0001c0001t0005g0277a0001c0001t0005g0283a0001c0001t0019g0279others(10): Show | 13 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.6103-294T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 39/55 | chr2 | 203171634 | ||||||
| chr2:203171677
|
G | GT | 228 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(225): Show | 228 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(225): Show |
intron_variant | MODIFIER | c.6103-239dupT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 39/55 | INFO_REALIGN_3_PRIME | chr2 | 203171677 | |||||
| chr2:203171677
|
G | GTT | 24 | a0001c0001t0002g0149a0001c0001t0002g0182a0001c0001t0016g0155others(21): Show | 24 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(21): Show |
intron_variant | MODIFIER | c.6103-240_6103-239d others(4): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 39/55 | INFO_REALIGN_3_PRIME | chr2 | 203171677 | |||||
| chr2:203171822
|
C | CT | 243 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(240): Show | 243 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(240): Show |
intron_variant | MODIFIER | c.6103-92dupT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 39/55 | INFO_REALIGN_3_PRIME | chr2 | 203171822 | |||||
| chr2:203171822
|
C | CTT | 8 | a0001c0001t0001g0212a0001c0001t0001g0221a0001c0001t0001g0269others(5): Show | 8 | HG01168.hp2 HG01175.hp1 HG02055.hp2 others(5): Show |
intron_variant | MODIFIER | c.6103-93_6103-92dup others(2): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 39/55 | INFO_REALIGN_3_PRIME | chr2 | 203171822 | |||||
| chr2:203172291
|
C | T | 2 | a0001c0001t0014g0019a0001c0001t0014g0260 | 2 | HG02486.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.6198+268C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 40/55 | chr2 | 203172291 | ||||||
| chr2:203172324
|
G | A | 99 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(96): Show | 99 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(96): Show |
intron_variant | MODIFIER | c.6198+301G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 40/55 | chr2 | 203172324 | ||||||
| chr2:203172409
|
A | C | 252 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(249): Show | 252 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(249): Show |
intron_variant | MODIFIER | c.6199-320A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 40/55 | chr2 | 203172409 | ||||||
| chr2:203172514
|
T | A | 2 | a0001c0001t0001g0014a0001c0001t0001g0015 | 2 | NA18981.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.6199-215T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 40/55 | chr2 | 203172514 | ||||||
| chr2:203172937
|
T | A | 3 | a0001c0001t0006g0254a0001c0001t0018g0145a0001c0019t0030g0180 | 3 | HG00544.hp1 HG00609.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.6323+84T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 41/55 | chr2 | 203172937 | ||||||
| chr2:203173327
|
A | G | 1 | a0001c0001t0002g0153 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.6323+474A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 41/55 | chr2 | 203173327 | ||||||
| chr2:203173353
|
C | T | 2 | a0001c0001t0014g0019a0001c0001t0014g0260 | 2 | HG02486.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.6323+500C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 41/55 | chr2 | 203173353 | ||||||
| chr2:203173507
|
T | A | 14 | a0002c0002t0003g0060a0002c0002t0003g0062a0002c0002t0003g0063others(11): Show | 14 | HG00738.hp1 HG01943.hp2 HG02129.hp1 others(11): Show |
intron_variant | MODIFIER | c.6323+654T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 41/55 | chr2 | 203173507 | ||||||
| chr2:203173516
|
G | T | 16 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(13): Show | 16 | HG00408.hp2 HG00544.hp2 HG01257.hp2 others(13): Show |
intron_variant | MODIFIER | c.6323+663G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 41/55 | chr2 | 203173516 | ||||||
| chr2:203174216
|
C | CA | 52 | a0001c0001t0002g0079a0001c0001t0002g0099a0001c0001t0002g0106others(49): Show | 52 | HG00597.hp1 HG00642.hp2 HG00673.hp1 others(49): Show |
intron_variant | MODIFIER | c.6324-904dupA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 203174216 | |||||
| chr2:203174216
|
C | CAA | 85 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(82): Show | 85 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(82): Show |
intron_variant | MODIFIER | c.6324-905_6324-904d others(4): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 203174216 | |||||
| chr2:203174216
|
C | CAAA | 32 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0020others(29): Show | 32 | HG00597.hp2 HG01081.hp1 HG01358.hp1 others(29): Show |
intron_variant | MODIFIER | c.6324-906_6324-904d others(5): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 203174216 | |||||
| chr2:203174216
|
CA | C | 12 | a0001c0001t0005g0283a0001c0001t0019g0280a0001c0004t0005g0273others(9): Show | 12 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(9): Show |
intron_variant | MODIFIER | c.6324-904delA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 203174216 | |||||
| chr2:203174216
|
CAAAAAAA others(2): Show |
C | 21 | a0001c0001t0001g0216a0003c0003t0004g0024a0003c0003t0004g0026others(18): Show | 21 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(18): Show |
intron_variant | MODIFIER | c.6324-912_6324-904d others(11): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 203174216 | |||||
| chr2:203174216
|
CAAAAAAA others(4): Show |
C | 1 | a0001c0001t0001g0177 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.6324-914_6324-904d others(13): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 203174216 | |||||
| chr2:203174465
|
G | A | 1 | a0001c0001t0001g0013 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.6324-682G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 41/55 | chr2 | 203174465 | ||||||
| chr2:203174502
|
C | G | 6 | a0001c0001t0004g0081a0002c0002t0003g0078a0002c0002t0003g0082others(3): Show | 6 | HG02293.hp1 HG02886.hp1 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.6324-645C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 41/55 | chr2 | 203174502 | ||||||
| chr2:203174551
|
C | G | 1 | a0001c0031t0002g0159 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.6324-596C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 41/55 | chr2 | 203174551 | ||||||
| chr2:203174675
|
A | G | 256 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(253): Show | 256 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(253): Show |
intron_variant | MODIFIER | c.6324-472A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 41/55 | chr2 | 203174675 | ||||||
| chr2:203174751
|
C | A | 1 | a0001c0001t0001g0231 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.6324-396C>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 41/55 | chr2 | 203174751 | ||||||
| chr2:203174762
|
G | A | 3 | a0001c0001t0004g0081a0002c0002t0003g0078a0002c0002t0003g0082 | 3 | HG02970.hp1 NA18906.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.6324-385G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 41/55 | chr2 | 203174762 | ||||||
| chr2:203174789
|
G | T | 1 | a0001c0009t0007g0055 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.6324-358G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 41/55 | chr2 | 203174789 | ||||||
| chr2:203174808
|
G | A | 2 | a0001c0004t0005g0275a0001c0004t0005g0276 | 2 | HG01516.hp2 HG01517.hp1 |
intron_variant | MODIFIER | c.6324-339G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 41/55 | chr2 | 203174808 | ||||||
| chr2:203174816
|
A | G | 1 | a0003c0003t0004g0035 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.6324-331A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 41/55 | chr2 | 203174816 | ||||||
| chr2:203174858
|
C | CAAAT | 82 | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0010others(79): Show | 82 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(79): Show |
intron_variant | MODIFIER | c.6324-253_6324-250d others(6): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 203174858 | |||||
| chr2:203174858
|
C | CAAATAAA others(1): Show |
3 | a0001c0001t0001g0194a0001c0001t0001g0209a0001c0001t0001g0225 | 3 | HG02080.hp1 NA18946.hp2 NA19004.hp2 |
intron_variant | MODIFIER | c.6324-257_6324-250d others(10): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 203174858 | |||||
| chr2:203174858
|
C | CAAATAAA others(5): Show |
1 | a0001c0001t0001g0210 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.6324-261_6324-250d others(14): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 203174858 | |||||
| chr2:203174858
|
CAAAT | C | 127 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(124): Show | 127 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(124): Show |
intron_variant | MODIFIER | c.6324-253_6324-250d others(6): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 203174858 | |||||
| chr2:203174858
|
CAAATAAA others(5): Show |
C | 1 | a0001c0001t0002g0129 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.6324-261_6324-250d others(14): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 41/55 | INFO_REALIGN_3_PRIME | chr2 | 203174858 | |||||
| chr2:203174948
|
T | C | 2 | a0006c0011t0017g0018a0020c0017t0017g0017 | 2 | HG03225.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.6324-199T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 41/55 | chr2 | 203174948 | ||||||
| chr2:203174984
|
T | C | 1 | a0001c0001t0001g0237 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.6324-163T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 41/55 | chr2 | 203174984 | ||||||
| chr2:203175483
|
G | A | 144 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(141): Show | 144 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(141): Show |
intron_variant | MODIFIER | c.6464+196G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 42/55 | chr2 | 203175483 | ||||||
| chr2:203175573
|
G | T | 13 | a0001c0001t0005g0277a0001c0001t0005g0283a0001c0001t0019g0279others(10): Show | 13 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.6464+286G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 42/55 | chr2 | 203175573 | ||||||
| chr2:203175794
|
T | G | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.6464+507T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 42/55 | chr2 | 203175794 | ||||||
| chr2:203176171
|
C | CT | 106 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007others(103): Show | 106 | HG00408.hp2 HG00423.hp2 HG00544.hp2 others(103): Show |
intron_variant | MODIFIER | c.6464+904dupT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 42/55 | INFO_REALIGN_3_PRIME | chr2 | 203176171 | |||||
| chr2:203176171
|
CT | C | 7 | a0001c0001t0002g0123a0001c0009t0007g0055a0001c0009t0007g0056others(4): Show | 7 | HG01169.hp1 HG01256.hp2 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.6464+904delT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 42/55 | INFO_REALIGN_3_PRIME | chr2 | 203176171 | |||||
| chr2:203176257
|
C | G | 1 | a0018c0018t0022g0022 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.6464+970C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 42/55 | chr2 | 203176257 | ||||||
| chr2:203176343
|
T | C | 17 | a0002c0002t0003g0060a0002c0002t0003g0061a0002c0002t0003g0062others(14): Show | 17 | HG00738.hp1 HG01943.hp2 HG01975.hp2 others(14): Show |
intron_variant | MODIFIER | c.6464+1056T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 42/55 | chr2 | 203176343 | ||||||
| chr2:203176375
|
C | A | 96 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(93): Show | 96 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(93): Show |
intron_variant | MODIFIER | c.6464+1088C>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 42/55 | chr2 | 203176375 | ||||||
| chr2:203176559
|
G | A | 1 | a0001c0001t0001g0013 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.6464+1272G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 42/55 | chr2 | 203176559 | ||||||
| chr2:203176645
|
T | A | 2 | a0001c0001t0001g0051a0001c0001t0001g0052 | 2 | HG02258.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.6464+1358T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 42/55 | chr2 | 203176645 | ||||||
| chr2:203176666
|
A | T | 1 | a0001c0001t0002g0149 | 1 | NA19078.hp2 | intron_variant | MODIFIER | c.6464+1379A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 42/55 | chr2 | 203176666 | ||||||
| chr2:203176729
|
C | CA | 159 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(156): Show | 159 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(156): Show |
intron_variant | MODIFIER | c.6464+1457dupA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 42/55 | INFO_REALIGN_3_PRIME | chr2 | 203176729 | |||||
| chr2:203176729
|
C | CAA | 7 | a0001c0001t0001g0205a0001c0001t0015g0127a0001c0001t0015g0128others(4): Show | 7 | HG00733.hp2 HG01496.hp2 HG02109.hp2 others(4): Show |
intron_variant | MODIFIER | c.6464+1456_6464+145 others(6): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 42/55 | INFO_REALIGN_3_PRIME | chr2 | 203176729 | |||||
| chr2:203176729
|
C | CAAA | 12 | a0001c0001t0005g0277a0001c0001t0005g0283a0001c0001t0019g0279others(9): Show | 12 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(9): Show |
intron_variant | MODIFIER | c.6464+1455_6464+145 others(7): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 42/55 | INFO_REALIGN_3_PRIME | chr2 | 203176729 | |||||
| chr2:203176910
|
G | A | 1 | a0001c0001t0001g0216 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.6464+1623G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 42/55 | chr2 | 203176910 | ||||||
| chr2:203177025
|
C | G | 6 | a0001c0001t0001g0216a0002c0002t0003g0046a0002c0002t0003g0048others(3): Show | 6 | HG02145.hp2 HG02451.hp2 HG02717.hp1 others(3): Show |
intron_variant | MODIFIER | c.6464+1738C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 42/55 | chr2 | 203177025 | ||||||
| chr2:203177150
|
CA | C | 20 | a0001c0001t0001g0009a0001c0001t0001g0202a0001c0001t0002g0107others(17): Show | 20 | HG00738.hp1 HG01256.hp2 HG01943.hp1 others(17): Show |
intron_variant | MODIFIER | c.6464+1880delA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 42/55 | INFO_REALIGN_3_PRIME | chr2 | 203177150 | |||||
| chr2:203177178
|
AGAAAT | A | 3 | a0001c0009t0007g0055a0001c0009t0007g0056a0001c0009t0007g0057 | 3 | HG02976.hp1 HG03139.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.6464+1901_6464+190 others(9): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 42/55 | INFO_REALIGN_3_PRIME | chr2 | 203177178 | |||||
| chr2:203177373
|
T | TA | 113 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(110): Show | 113 | HG00408.hp2 HG00423.hp2 HG00544.hp2 others(110): Show |
intron_variant | MODIFIER | c.6464+2101dupA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 42/55 | INFO_REALIGN_3_PRIME | chr2 | 203177373 | |||||
| chr2:203177616
|
C | T | 1 | a0001c0001t0024g0016 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.6464+2329C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 42/55 | chr2 | 203177616 | ||||||
| chr2:203177845
|
C | G | 140 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(137): Show | 140 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(137): Show |
intron_variant | MODIFIER | c.6465-2537C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 42/55 | chr2 | 203177845 | ||||||
| chr2:203177935
|
C | A | 1 | a0001c0001t0005g0277 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.6465-2447C>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 42/55 | chr2 | 203177935 | ||||||
| chr2:203178018
|
CA | C | 128 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(125): Show | 128 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(125): Show |
intron_variant | MODIFIER | c.6465-2352delA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 42/55 | INFO_REALIGN_3_PRIME | chr2 | 203178018 | |||||
| chr2:203178025
|
A | T | 4 | a0001c0001t0001g0227a0002c0002t0003g0062a0002c0002t0003g0063others(1): Show | 4 | NA18948.hp2 NA18986.hp1 NA18988.hp1 others(1): Show |
intron_variant | MODIFIER | c.6465-2357A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 42/55 | chr2 | 203178025 | ||||||
| chr2:203178149
|
CT | C | 140 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(137): Show | 140 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(137): Show |
intron_variant | MODIFIER | c.6465-2223delT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 42/55 | INFO_REALIGN_3_PRIME | chr2 | 203178149 | |||||
| chr2:203178343
|
A | T | 249 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(246): Show | 249 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(246): Show |
intron_variant | MODIFIER | c.6465-2039A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 42/55 | chr2 | 203178343 | ||||||
| chr2:203178437
|
G | T | 1 | a0001c0001t0001g0185 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.6465-1945G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 42/55 | chr2 | 203178437 | ||||||
| chr2:203178883
|
T | C | 74 | a0001c0001t0001g0020a0001c0001t0001g0177a0001c0001t0001g0185others(71): Show | 74 | HG00323.hp2 HG00423.hp2 HG00597.hp2 others(71): Show |
intron_variant | MODIFIER | c.6465-1499T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 42/55 | chr2 | 203178883 | ||||||
| chr2:203178953
|
G | A | 249 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(246): Show | 249 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(246): Show |
intron_variant | MODIFIER | c.6465-1429G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 42/55 | chr2 | 203178953 | ||||||
| chr2:203179293
|
C | T | 5 | a0001c0001t0001g0212a0001c0001t0001g0221a0001c0001t0001g0222others(2): Show | 5 | HG00323.hp2 HG01168.hp2 HG01175.hp1 others(2): Show |
intron_variant | MODIFIER | c.6465-1089C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 42/55 | chr2 | 203179293 | ||||||
| chr2:203179326
|
G | A | 94 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(91): Show | 94 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(91): Show |
intron_variant | MODIFIER | c.6465-1056G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 42/55 | chr2 | 203179326 | ||||||
| chr2:203179490
|
G | A | 140 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(137): Show | 140 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(137): Show |
intron_variant | MODIFIER | c.6465-892G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 42/55 | chr2 | 203179490 | ||||||
| chr2:203179662
|
G | A | 5 | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0252others(2): Show | 5 | HG01167.hp2 HG01169.hp2 NA18747.hp1 others(2): Show |
intron_variant | MODIFIER | c.6465-720G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 42/55 | chr2 | 203179662 | ||||||
| chr2:203179771
|
A | G | 1 | a0018c0018t0022g0022 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.6465-611A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 42/55 | chr2 | 203179771 | ||||||
| chr2:203179896
|
C | T | 1 | a0010c0015t0001g0214 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.6465-486C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 42/55 | chr2 | 203179896 | ||||||
| chr2:203179962
|
C | T | 2 | a0007c0010t0012g0101a0007c0010t0012g0102 | 2 | HG01515.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.6465-420C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 42/55 | chr2 | 203179962 | ||||||
| chr2:203180012
|
A | G | 1 | a0006c0011t0045g0023 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.6465-370A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 42/55 | chr2 | 203180012 | ||||||
| chr2:203180021
|
A | G | 255 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(252): Show | 255 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(252): Show |
intron_variant | MODIFIER | c.6465-361A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 42/55 | chr2 | 203180021 | ||||||
| chr2:203180049
|
T | C | 256 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(253): Show | 256 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(253): Show |
intron_variant | MODIFIER | c.6465-333T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 42/55 | chr2 | 203180049 | ||||||
| chr2:203180053
|
C | T | 2 | a0001c0001t0014g0019a0001c0001t0014g0260 | 2 | HG02486.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.6465-329C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 42/55 | chr2 | 203180053 | ||||||
| chr2:203180076
|
A | C | 1 | a0002c0002t0008g0093 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.6465-306A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 42/55 | chr2 | 203180076 | ||||||
| chr2:203180152
|
A | T | 1 | a0001c0001t0024g0016 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.6465-230A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 42/55 | chr2 | 203180152 | ||||||
| chr2:203180377
|
T | A | 2 | a0002c0014t0003g0076a0019c0013t0003g0077 | 2 | HG03130.hp2 HG03195.hp1 |
splice_region_variant&intron_variant | LOW | c.6465-5T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 42/55 | chr2 | 203180377 | ||||||
| chr2:203180545
|
A | G | 1 | a0001c0001t0035g0256 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.6595+33A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 43/55 | chr2 | 203180545 | ||||||
| chr2:203180652
|
A | C | 1 | a0001c0001t0004g0081 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.6595+140A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 43/55 | chr2 | 203180652 | ||||||
| chr2:203180816
|
T | C | 254 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(251): Show | 254 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(251): Show |
intron_variant | MODIFIER | c.6595+304T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 43/55 | chr2 | 203180816 | ||||||
| chr2:203180933
|
A | ATTTTTTT others(2): Show |
7 | a0001c0001t0041g0054a0001c0009t0007g0055a0001c0009t0007g0056others(4): Show | 7 | HG02258.hp2 HG02451.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.6595+435_6595+443d others(11): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 43/55 | INFO_REALIGN_3_PRIME | chr2 | 203180933 | |||||
| chr2:203180933
|
A | ATTTTTTT others(3): Show |
17 | a0001c0001t0002g0168a0003c0003t0004g0026a0003c0003t0004g0027others(14): Show | 17 | HG00733.hp1 HG01109.hp1 HG01167.hp2 others(14): Show |
intron_variant | MODIFIER | c.6595+434_6595+443d others(12): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 43/55 | INFO_REALIGN_3_PRIME | chr2 | 203180933 | |||||
| chr2:203180933
|
A | ATTTTTTT others(4): Show |
78 | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0008others(75): Show | 78 | HG00323.hp1 HG00423.hp2 HG00544.hp1 others(75): Show |
intron_variant | MODIFIER | c.6595+433_6595+443d others(13): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 43/55 | INFO_REALIGN_3_PRIME | chr2 | 203180933 | |||||
| chr2:203180933
|
A | ATTTTTTT others(5): Show |
77 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(74): Show | 77 | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(74): Show |
intron_variant | MODIFIER | c.6595+432_6595+443d others(14): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 43/55 | INFO_REALIGN_3_PRIME | chr2 | 203180933 | |||||
| chr2:203180933
|
A | ATTTTTTT others(6): Show |
45 | a0001c0001t0001g0013a0001c0001t0001g0051a0001c0001t0001g0200others(42): Show | 45 | HG00438.hp2 HG00597.hp1 HG00609.hp1 others(42): Show |
intron_variant | MODIFIER | c.6595+431_6595+443d others(15): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 43/55 | INFO_REALIGN_3_PRIME | chr2 | 203180933 | |||||
| chr2:203180933
|
A | ATTTTTTT others(7): Show |
11 | a0001c0001t0001g0212a0001c0001t0002g0111a0001c0001t0002g0112others(8): Show | 11 | HG00423.hp1 HG01175.hp1 HG02523.hp2 others(8): Show |
intron_variant | MODIFIER | c.6595+430_6595+443d others(16): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 43/55 | INFO_REALIGN_3_PRIME | chr2 | 203180933 | |||||
| chr2:203180933
|
A | ATTTTTTT others(8): Show |
4 | a0001c0001t0002g0154a0001c0001t0002g0290a0001c0001t0002g0291others(1): Show | 4 | HG01361.hp2 HG01515.hp2 HG02300.hp1 others(1): Show |
intron_variant | MODIFIER | c.6595+429_6595+443d others(17): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 43/55 | INFO_REALIGN_3_PRIME | chr2 | 203180933 | |||||
| chr2:203180933
|
A | ATTTTTTT others(9): Show |
4 | a0001c0001t0019g0279a0001c0001t0029g0236a0001c0004t0005g0282others(1): Show | 4 | HG00738.hp2 HG03579.hp2 NA18966.hp1 others(1): Show |
intron_variant | MODIFIER | c.6595+428_6595+443d others(18): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 43/55 | INFO_REALIGN_3_PRIME | chr2 | 203180933 | |||||
| chr2:203180933
|
A | ATTTTTTT others(10): Show |
6 | a0001c0001t0005g0283a0001c0001t0019g0280a0001c0004t0005g0274others(3): Show | 6 | HG00438.hp1 HG01099.hp1 HG01516.hp2 others(3): Show |
intron_variant | MODIFIER | c.6595+427_6595+443d others(19): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 43/55 | INFO_REALIGN_3_PRIME | chr2 | 203180933 | |||||
| chr2:203180933
|
A | ATTTTTTT others(11): Show |
3 | a0001c0004t0005g0273a0001c0004t0005g0278a0001c0004t0005g0281 | 3 | HG00735.hp1 HG01167.hp1 HG01496.hp2 |
intron_variant | MODIFIER | c.6595+426_6595+443d others(20): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 43/55 | INFO_REALIGN_3_PRIME | chr2 | 203180933 | |||||
| chr2:203180933
|
A | ATTTTTTT others(13): Show |
1 | a0001c0001t0005g0277 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.6595+424_6595+443d others(22): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 43/55 | INFO_REALIGN_3_PRIME | chr2 | 203180933 | |||||
| chr2:203181077
|
C | T | 1 | a0018c0018t0022g0022 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.6595+565C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 43/55 | chr2 | 203181077 | ||||||
| chr2:203181078
|
A | G | 2 | a0001c0001t0001g0208a0001c0001t0036g0207 | 2 | HG00423.hp2 HG00609.hp2 |
intron_variant | MODIFIER | c.6595+566A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 43/55 | chr2 | 203181078 | ||||||
| chr2:203181133
|
T | G | 2 | a0006c0011t0017g0018a0020c0017t0017g0017 | 2 | HG03225.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.6595+621T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 43/55 | chr2 | 203181133 | ||||||
| chr2:203181433
|
T | C | 2 | a0001c0001t0002g0118a0001c0001t0002g0146 | 2 | HG02602.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.6595+921T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 43/55 | chr2 | 203181433 | ||||||
| chr2:203181440
|
T | G | 1 | a0015c0021t0003g0074 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.6595+928T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 43/55 | chr2 | 203181440 | ||||||
| chr2:203181530
|
A | C | 19 | a0003c0003t0004g0024a0003c0003t0004g0026a0003c0003t0004g0027others(16): Show | 19 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(16): Show |
intron_variant | MODIFIER | c.6595+1018A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 43/55 | chr2 | 203181530 | ||||||
| chr2:203181673
|
C | T | 6 | a0002c0002t0003g0021a0002c0002t0003g0046a0002c0002t0003g0048others(3): Show | 6 | HG02145.hp2 HG02451.hp2 HG02717.hp1 others(3): Show |
intron_variant | MODIFIER | c.6595+1161C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 43/55 | chr2 | 203181673 | ||||||
| chr2:203181737
|
C | G | 253 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(250): Show | 253 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(250): Show |
intron_variant | MODIFIER | c.6595+1225C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 43/55 | chr2 | 203181737 | ||||||
| chr2:203181803
|
A | G | 99 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(96): Show | 99 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(96): Show |
intron_variant | MODIFIER | c.6595+1291A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 43/55 | chr2 | 203181803 | ||||||
| chr2:203181938
|
T | C | 1 | a0001c0001t0001g0226 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.6596-1341T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 43/55 | chr2 | 203181938 | ||||||
| chr2:203182223
|
G | A | 1 | a0001c0001t0001g0051 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.6596-1056G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 43/55 | chr2 | 203182223 | ||||||
| chr2:203182479
|
A | G | 1 | a0001c0001t0041g0054 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.6596-800A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 43/55 | chr2 | 203182479 | ||||||
| chr2:203182554
|
G | A | 1 | a0001c0001t0001g0265 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.6596-725G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 43/55 | chr2 | 203182554 | ||||||
| chr2:203182731
|
C | G | 1 | a0001c0001t0034g0058 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.6596-548C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 43/55 | chr2 | 203182731 | ||||||
| chr2:203182865
|
A | G | 252 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(249): Show | 252 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(249): Show |
intron_variant | MODIFIER | c.6596-414A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 43/55 | chr2 | 203182865 | ||||||
| chr2:203182882
|
A | C | 252 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(249): Show | 252 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(249): Show |
intron_variant | MODIFIER | c.6596-397A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 43/55 | chr2 | 203182882 | ||||||
| chr2:203183684
|
G | A | 1 | a0002c0002t0003g0086 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.6705+296G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | chr2 | 203183684 | ||||||
| chr2:203183868
|
G | A | 1 | a0001c0001t0024g0016 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.6705+480G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | chr2 | 203183868 | ||||||
| chr2:203184038
|
G | A | 2 | a0003c0012t0011g0025a0003c0012t0011g0043 | 2 | HG02559.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.6705+650G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | chr2 | 203184038 | ||||||
| chr2:203184074
|
T | TA | 10 | a0001c0001t0002g0146a0001c0001t0015g0128a0001c0001t0034g0058others(7): Show | 10 | HG00597.hp1 HG00735.hp2 HG02622.hp2 others(7): Show |
intron_variant | MODIFIER | c.6705+711dupA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | INFO_REALIGN_3_PRIME | chr2 | 203184074 | |||||
| chr2:203184074
|
TA | T | 9 | a0001c0001t0001g0224a0001c0001t0002g0125a0001c0001t0002g0168others(6): Show | 9 | HG01167.hp2 HG02559.hp2 HG03041.hp2 others(6): Show |
intron_variant | MODIFIER | c.6705+711delA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | INFO_REALIGN_3_PRIME | chr2 | 203184074 | |||||
| chr2:203184074
|
TAA | T | 22 | a0001c0001t0005g0277a0001c0001t0005g0283a0001c0001t0014g0019others(19): Show | 22 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(19): Show |
intron_variant | MODIFIER | c.6705+710_6705+711d others(4): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | INFO_REALIGN_3_PRIME | chr2 | 203184074 | |||||
| chr2:203184090
|
A | G | 16 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(13): Show | 16 | HG00408.hp2 HG00544.hp2 HG01257.hp2 others(13): Show |
intron_variant | MODIFIER | c.6705+702A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | chr2 | 203184090 | ||||||
| chr2:203184096
|
A | G | 108 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(105): Show | 108 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(105): Show |
intron_variant | MODIFIER | c.6705+708A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | chr2 | 203184096 | ||||||
| chr2:203184100
|
G | C | 109 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(106): Show | 109 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(106): Show |
intron_variant | MODIFIER | c.6705+712G>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | chr2 | 203184100 | ||||||
| chr2:203184117
|
G | A | 225 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(222): Show | 225 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(222): Show |
intron_variant | MODIFIER | c.6705+729G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | chr2 | 203184117 | ||||||
| chr2:203184218
|
G | A | 1 | a0001c0001t0001g0234 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.6705+830G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | chr2 | 203184218 | ||||||
| chr2:203184417
|
C | T | 1 | a0002c0002t0003g0063 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.6705+1029C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | chr2 | 203184417 | ||||||
| chr2:203184471
|
T | A | 3 | a0001c0001t0001g0011a0001c0001t0040g0012a0001c0024t0001g0005 | 3 | HG00408.hp2 HG02083.hp2 HG02135.hp1 |
intron_variant | MODIFIER | c.6705+1083T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | chr2 | 203184471 | ||||||
| chr2:203184614
|
T | G | 1 | a0006c0011t0045g0023 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.6705+1226T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | chr2 | 203184614 | ||||||
| chr2:203184896
|
TA | T | 21 | a0001c0001t0001g0009a0001c0001t0001g0013a0001c0001t0001g0202others(18): Show | 21 | HG00323.hp2 HG01168.hp2 HG01169.hp2 others(18): Show |
intron_variant | MODIFIER | c.6705+1525delA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | INFO_REALIGN_3_PRIME | chr2 | 203184896 | |||||
| chr2:203184897
|
A | T | 133 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(130): Show | 133 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(130): Show |
intron_variant | MODIFIER | c.6705+1509A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | chr2 | 203184897 | ||||||
| chr2:203184898
|
A | T | 6 | a0001c0001t0002g0167a0001c0001t0002g0291a0003c0003t0004g0042others(3): Show | 6 | HG01169.hp2 HG01517.hp2 HG01884.hp1 others(3): Show |
intron_variant | MODIFIER | c.6705+1510A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | chr2 | 203184898 | ||||||
| chr2:203185093
|
A | G | 1 | a0001c0001t0041g0054 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.6705+1705A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | chr2 | 203185093 | ||||||
| chr2:203185173
|
T | G | 1 | a0001c0001t0014g0260 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.6705+1785T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | chr2 | 203185173 | ||||||
| chr2:203185381
|
A | T | 1 | a0002c0002t0003g0064 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.6705+1993A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | chr2 | 203185381 | ||||||
| chr2:203185506
|
A | G | 5 | a0002c0002t0003g0046a0002c0002t0003g0048a0002c0002t0003g0049others(2): Show | 5 | HG02145.hp2 HG02451.hp2 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.6705+2118A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | chr2 | 203185506 | ||||||
| chr2:203185553
|
A | G | 1 | a0001c0001t0001g0177 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.6705+2165A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | chr2 | 203185553 | ||||||
| chr2:203185751
|
T | G | 13 | a0001c0001t0005g0277a0001c0001t0005g0283a0001c0001t0019g0279others(10): Show | 13 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.6705+2363T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | chr2 | 203185751 | ||||||
| chr2:203186025
|
C | G | 2 | a0001c0009t0007g0056a0013c0027t0007g0053 | 2 | HG02109.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.6706-2447C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | chr2 | 203186025 | ||||||
| chr2:203186095
|
T | C | 1 | a0002c0002t0008g0080 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.6706-2377T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | chr2 | 203186095 | ||||||
| chr2:203186165
|
T | G | 2 | a0001c0001t0014g0019a0001c0001t0014g0260 | 2 | HG02486.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.6706-2307T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | chr2 | 203186165 | ||||||
| chr2:203186286
|
G | A | 112 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(109): Show | 112 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(109): Show |
intron_variant | MODIFIER | c.6706-2186G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | chr2 | 203186286 | ||||||
| chr2:203186347
|
G | A | 10 | a0001c0001t0014g0019a0001c0001t0014g0260a0001c0001t0023g0045others(7): Show | 10 | HG01884.hp2 HG02109.hp2 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.6706-2125G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | chr2 | 203186347 | ||||||
| chr2:203186617
|
A | AAAAT | 4 | a0001c0001t0001g0003a0001c0008t0001g0240a0001c0008t0001g0241others(1): Show | 4 | HG03831.hp2 NA18951.hp2 NA18968.hp1 others(1): Show |
intron_variant | MODIFIER | c.6706-1832_6706-182 others(8): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | INFO_REALIGN_3_PRIME | chr2 | 203186617 | |||||
| chr2:203186617
|
A | AAAATAAA others(9): Show |
1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.6706-1844_6706-182 others(20): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | INFO_REALIGN_3_PRIME | chr2 | 203186617 | |||||
| chr2:203186788
|
T | C | 1 | a0020c0017t0017g0017 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.6706-1684T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | chr2 | 203186788 | ||||||
| chr2:203187073
|
GCCCTCTA others(5): Show |
G | 1 | a0018c0018t0022g0022 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.6706-1395_6706-138 others(16): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | INFO_REALIGN_3_PRIME | chr2 | 203187073 | |||||
| chr2:203187101
|
T | C | 1 | a0017c0025t0003g0047 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.6706-1371T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | chr2 | 203187101 | ||||||
| chr2:203187105
|
C | G | 4 | a0001c0001t0014g0019a0001c0001t0014g0260a0001c0009t0007g0056others(1): Show | 4 | HG02109.hp2 HG02486.hp2 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.6706-1367C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | chr2 | 203187105 | ||||||
| chr2:203187108
|
C | T | 2 | a0006c0011t0017g0018a0020c0017t0017g0017 | 2 | HG03225.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.6706-1364C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | chr2 | 203187108 | ||||||
| chr2:203187109
|
G | C | 2 | a0005c0006t0002g0165a0005c0006t0002g0179 | 2 | HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.6706-1363G>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | chr2 | 203187109 | ||||||
| chr2:203187173
|
TC | T | 7 | a0001c0001t0014g0019a0001c0001t0014g0260a0001c0001t0041g0054others(4): Show | 7 | HG02109.hp2 HG02451.hp1 HG02486.hp2 others(4): Show |
intron_variant | MODIFIER | c.6706-1296delC | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | INFO_REALIGN_3_PRIME | chr2 | 203187173 | |||||
| chr2:203187207
|
G | A | 111 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(108): Show | 111 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(108): Show |
intron_variant | MODIFIER | c.6706-1265G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | chr2 | 203187207 | ||||||
| chr2:203187232
|
A | AT | 20 | a0001c0001t0004g0081a0003c0003t0004g0024a0003c0003t0004g0026others(17): Show | 20 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(17): Show |
intron_variant | MODIFIER | c.6706-1234dupT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | INFO_REALIGN_3_PRIME | chr2 | 203187232 | |||||
| chr2:203187338
|
A | G | 254 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(251): Show | 254 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(251): Show |
intron_variant | MODIFIER | c.6706-1134A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | chr2 | 203187338 | ||||||
| chr2:203187367
|
G | GT | 109 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0007others(106): Show | 109 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(106): Show |
intron_variant | MODIFIER | c.6706-1084dupT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | INFO_REALIGN_3_PRIME | chr2 | 203187367 | |||||
| chr2:203187367
|
G | GTT | 134 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0210others(131): Show | 134 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(131): Show |
intron_variant | MODIFIER | c.6706-1085_6706-108 others(6): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | INFO_REALIGN_3_PRIME | chr2 | 203187367 | |||||
| chr2:203187367
|
G | GTTT | 20 | a0001c0001t0002g0104a0001c0001t0002g0113a0001c0001t0002g0118others(17): Show | 20 | HG00544.hp1 HG00597.hp1 HG01361.hp2 others(17): Show |
intron_variant | MODIFIER | c.6706-1086_6706-108 others(7): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | INFO_REALIGN_3_PRIME | chr2 | 203187367 | |||||
| chr2:203187433
|
C | T | 3 | a0003c0003t0004g0038a0003c0003t0004g0039a0003c0003t0004g0040 | 3 | HG03130.hp1 HG03516.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.6706-1039C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | chr2 | 203187433 | ||||||
| chr2:203187471
|
G | C | 6 | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0011others(3): Show | 6 | HG00408.hp2 HG02083.hp2 HG02135.hp1 others(3): Show |
intron_variant | MODIFIER | c.6706-1001G>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | chr2 | 203187471 | ||||||
| chr2:203187716
|
C | T | 1 | a0001c0001t0001g0020 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.6706-756C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | chr2 | 203187716 | ||||||
| chr2:203187744
|
C | CA | 114 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(111): Show | 114 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.6706-715dupA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | INFO_REALIGN_3_PRIME | chr2 | 203187744 | |||||
| chr2:203188148
|
A | G | 4 | a0003c0003t0004g0026a0003c0003t0004g0027a0003c0003t0004g0028others(1): Show | 4 | HG02572.hp1 HG02896.hp2 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.6706-324A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | chr2 | 203188148 | ||||||
| chr2:203188185
|
G | A | 1 | a0002c0002t0003g0021 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.6706-287G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | chr2 | 203188185 | ||||||
| chr2:203188267
|
T | A | 250 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(247): Show | 250 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(247): Show |
intron_variant | MODIFIER | c.6706-205T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 44/55 | chr2 | 203188267 | ||||||
| chr2:203188940
|
G | A | 1 | a0011c0029t0028g0095 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.6823+351G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 45/55 | chr2 | 203188940 | ||||||
| chr2:203189019
|
A | G | 94 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(91): Show | 94 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(91): Show |
intron_variant | MODIFIER | c.6823+430A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 45/55 | chr2 | 203189019 | ||||||
| chr2:203189323
|
A | G | 1 | a0001c0007t0002g0092 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.6823+734A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 45/55 | chr2 | 203189323 | ||||||
| chr2:203189418
|
C | T | 13 | a0001c0001t0005g0277a0001c0001t0005g0283a0001c0001t0019g0279others(10): Show | 13 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.6823+829C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 45/55 | chr2 | 203189418 | ||||||
| chr2:203189629
|
C | T | 2 | a0003c0012t0011g0025a0003c0012t0011g0043 | 2 | HG02559.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.6824-663C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 45/55 | chr2 | 203189629 | ||||||
| chr2:203189676
|
C | G | 1 | a0001c0001t0001g0248 | 1 | NA19078.hp1 | intron_variant | MODIFIER | c.6824-616C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 45/55 | chr2 | 203189676 | ||||||
| chr2:203189851
|
A | G | 1 | a0018c0018t0022g0022 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.6824-441A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 45/55 | chr2 | 203189851 | ||||||
| chr2:203189874
|
G | A | 143 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(140): Show | 143 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(140): Show |
intron_variant | MODIFIER | c.6824-418G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 45/55 | chr2 | 203189874 | ||||||
| chr2:203189899
|
G | T | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.6824-393G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 45/55 | chr2 | 203189899 | ||||||
| chr2:203189905
|
G | T | 1 | a0001c0007t0002g0059 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.6824-387G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 45/55 | chr2 | 203189905 | ||||||
| chr2:203189930
|
G | A | 2 | a0001c0001t0014g0019a0001c0001t0014g0260 | 2 | HG02486.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.6824-362G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 45/55 | chr2 | 203189930 | ||||||
| chr2:203190098
|
T | C | 6 | a0001c0001t0002g0129a0005c0006t0002g0100a0005c0006t0002g0160others(3): Show | 6 | HG00735.hp2 HG00741.hp2 HG03453.hp1 others(3): Show |
intron_variant | MODIFIER | c.6824-194T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 45/55 | chr2 | 203190098 | ||||||
| chr2:203190111
|
G | A | 143 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(140): Show | 143 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(140): Show |
intron_variant | MODIFIER | c.6824-181G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 45/55 | chr2 | 203190111 | ||||||
| chr2:203190150
|
A | C | 1 | a0001c0001t0034g0058 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.6824-142A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 45/55 | chr2 | 203190150 | ||||||
| chr2:203190159
|
T | TAC | 10 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(7): Show | 10 | HG02083.hp2 HG02129.hp1 HG02132.hp1 others(7): Show |
intron_variant | MODIFIER | c.6824-84_6824-83dup others(2): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 45/55 | INFO_REALIGN_3_PRIME | chr2 | 203190159 | |||||
| chr2:203190159
|
T | TACAC | 4 | a0001c0001t0001g0013a0002c0002t0003g0085a0011c0029t0028g0095others(1): Show | 4 | HG03130.hp2 HG03540.hp1 HG03942.hp2 others(1): Show |
intron_variant | MODIFIER | c.6824-86_6824-83dup others(4): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 45/55 | INFO_REALIGN_3_PRIME | chr2 | 203190159 | |||||
| chr2:203190159
|
T | TACACAC | 3 | a0002c0002t0003g0078a0002c0002t0003g0130a0002c0014t0003g0076 | 3 | HG02559.hp1 HG03195.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.6824-88_6824-83dup others(6): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 45/55 | INFO_REALIGN_3_PRIME | chr2 | 203190159 | |||||
| chr2:203190159
|
T | TACACACA others(5): Show |
1 | a0002c0002t0008g0093 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.6824-94_6824-83dup others(12): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 45/55 | INFO_REALIGN_3_PRIME | chr2 | 203190159 | |||||
| chr2:203190159
|
TAC | T | 10 | a0002c0002t0003g0021a0002c0002t0003g0049a0002c0002t0003g0050others(7): Show | 10 | HG02109.hp1 HG02717.hp1 HG02895.hp2 others(7): Show |
intron_variant | MODIFIER | c.6824-84_6824-83del others(2): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 45/55 | INFO_REALIGN_3_PRIME | chr2 | 203190159 | |||||
| chr2:203190159
|
TACAC | T | 3 | a0001c0001t0001g0003a0001c0001t0023g0045a0002c0002t0003g0061 | 3 | HG01884.hp2 HG01975.hp2 HG03831.hp2 |
intron_variant | MODIFIER | c.6824-86_6824-83del others(4): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 45/55 | INFO_REALIGN_3_PRIME | chr2 | 203190159 | |||||
| chr2:203190159
|
TACACACA others(3): Show |
T | 3 | a0001c0001t0014g0260a0001c0009t0007g0057a0015c0021t0003g0074 | 3 | HG02257.hp2 HG02486.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.6824-92_6824-83del others(10): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 45/55 | INFO_REALIGN_3_PRIME | chr2 | 203190159 | |||||
| chr2:203190159
|
TACACACA others(5): Show |
T | 7 | a0001c0001t0014g0019a0001c0001t0041g0054a0001c0009t0007g0055others(4): Show | 7 | HG02109.hp2 HG02451.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.6824-94_6824-83del others(12): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 45/55 | INFO_REALIGN_3_PRIME | chr2 | 203190159 | |||||
| chr2:203190159
|
TACACACA others(7): Show |
T | 2 | a0001c0001t0001g0220a0022c0032t0001g0246 | 2 | HG01081.hp1 HG03688.hp1 |
intron_variant | MODIFIER | c.6824-96_6824-83del others(14): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 45/55 | INFO_REALIGN_3_PRIME | chr2 | 203190159 | |||||
| chr2:203190159
|
TACACACA others(9): Show |
T | 91 | a0001c0001t0001g0020a0001c0001t0001g0051a0001c0001t0001g0052others(88): Show | 91 | HG00323.hp2 HG00423.hp2 HG00597.hp2 others(88): Show |
intron_variant | MODIFIER | c.6824-98_6824-83del others(16): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 45/55 | INFO_REALIGN_3_PRIME | chr2 | 203190159 | |||||
| chr2:203190159
|
TACACACA others(11): Show |
T | 11 | a0001c0001t0001g0198a0001c0001t0001g0204a0001c0001t0002g0104others(8): Show | 11 | HG00597.hp1 HG00673.hp1 HG02056.hp2 others(8): Show |
intron_variant | MODIFIER | c.6824-100_6824-83de others(19): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 45/55 | INFO_REALIGN_3_PRIME | chr2 | 203190159 | |||||
| chr2:203190159
|
TACACACA others(13): Show |
T | 125 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(122): Show | 125 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(122): Show |
intron_variant | MODIFIER | c.6824-102_6824-83de others(21): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 45/55 | INFO_REALIGN_3_PRIME | chr2 | 203190159 | |||||
| chr2:203190224
|
C | T | 2 | a0001c0001t0014g0019a0001c0001t0014g0260 | 2 | HG02486.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.6824-68C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 45/55 | chr2 | 203190224 | ||||||
| chr2:203190490
|
C | T | 1 | a0001c0001t0001g0237 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.6921+101C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 46/55 | chr2 | 203190490 | ||||||
| chr2:203190735
|
C | T | 1 | a0001c0001t0037g0272 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.6921+346C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 46/55 | chr2 | 203190735 | ||||||
| chr2:203190794
|
C | T | 19 | a0003c0003t0004g0024a0003c0003t0004g0026a0003c0003t0004g0027others(16): Show | 19 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(16): Show |
intron_variant | MODIFIER | c.6921+405C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 46/55 | chr2 | 203190794 | ||||||
| chr2:203190844
|
T | C | 1 | a0001c0001t0002g0104 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.6921+455T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 46/55 | chr2 | 203190844 | ||||||
| chr2:203190954
|
A | G | 2 | a0002c0002t0003g0083a0002c0002t0003g0084 | 2 | HG02723.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.6921+565A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 46/55 | chr2 | 203190954 | ||||||
| chr2:203190984
|
G | A | 1 | a0001c0001t0002g0146 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.6921+595G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 46/55 | chr2 | 203190984 | ||||||
| chr2:203191106
|
C | T | 2 | a0006c0011t0017g0018a0020c0017t0017g0017 | 2 | HG03225.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.6921+717C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 46/55 | chr2 | 203191106 | ||||||
| chr2:203191177
|
T | C | 1 | a0001c0001t0041g0054 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.6921+788T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 46/55 | chr2 | 203191177 | ||||||
| chr2:203191319
|
G | GA | 100 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(97): Show | 100 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(97): Show |
intron_variant | MODIFIER | c.6921+946dupA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 46/55 | INFO_REALIGN_3_PRIME | chr2 | 203191319 | |||||
| chr2:203191406
|
A | C | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.6921+1017A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 46/55 | chr2 | 203191406 | ||||||
| chr2:203191765
|
T | C | 8 | a0001c0001t0006g0228a0001c0001t0006g0230a0001c0001t0006g0232others(5): Show | 8 | HG00642.hp1 HG01255.hp1 HG01358.hp1 others(5): Show |
intron_variant | MODIFIER | c.6921+1376T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 46/55 | chr2 | 203191765 | ||||||
| chr2:203191788
|
G | A | 1 | a0001c0001t0024g0016 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.6921+1399G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 46/55 | chr2 | 203191788 | ||||||
| chr2:203191790
|
C | T | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.6921+1401C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 46/55 | chr2 | 203191790 | ||||||
| chr2:203191924
|
C | T | 5 | a0001c0001t0001g0212a0001c0001t0001g0221a0001c0001t0001g0222others(2): Show | 5 | HG00323.hp2 HG01168.hp2 HG01175.hp1 others(2): Show |
intron_variant | MODIFIER | c.6921+1535C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 46/55 | chr2 | 203191924 | ||||||
| chr2:203191955
|
T | C | 13 | a0001c0001t0005g0277a0001c0001t0005g0283a0001c0001t0019g0279others(10): Show | 13 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.6921+1566T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 46/55 | chr2 | 203191955 | ||||||
| chr2:203192152
|
A | G | 1 | a0001c0001t0002g0156 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.6922-1643A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 46/55 | chr2 | 203192152 | ||||||
| chr2:203192299
|
G | T | 1 | a0001c0001t0037g0272 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.6922-1496G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 46/55 | chr2 | 203192299 | ||||||
| chr2:203192351
|
T | A | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.6922-1444T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 46/55 | chr2 | 203192351 | ||||||
| chr2:203192382
|
A | C | 255 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(252): Show | 255 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(252): Show |
intron_variant | MODIFIER | c.6922-1413A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 46/55 | chr2 | 203192382 | ||||||
| chr2:203192385
|
AT | A | 47 | a0001c0001t0001g0237a0001c0001t0002g0134a0001c0001t0004g0081others(44): Show | 47 | HG00438.hp1 HG00733.hp1 HG00735.hp1 others(44): Show |
intron_variant | MODIFIER | c.6922-1394delT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 46/55 | INFO_REALIGN_3_PRIME | chr2 | 203192385 | |||||
| chr2:203192487
|
C | T | 1 | a0018c0018t0022g0022 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.6922-1308C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 46/55 | chr2 | 203192487 | ||||||
| chr2:203192625
|
A | T | 1 | a0001c0001t0001g0177 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.6922-1170A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 46/55 | chr2 | 203192625 | ||||||
| chr2:203192640
|
C | G | 1 | a0003c0012t0011g0043 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.6922-1155C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 46/55 | chr2 | 203192640 | ||||||
| chr2:203192716
|
T | C | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.6922-1079T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 46/55 | chr2 | 203192716 | ||||||
| chr2:203192878
|
G | T | 143 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(140): Show | 143 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(140): Show |
intron_variant | MODIFIER | c.6922-917G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 46/55 | chr2 | 203192878 | ||||||
| chr2:203192951
|
T | C | 6 | a0002c0002t0003g0078a0002c0002t0003g0082a0002c0002t0003g0130others(3): Show | 6 | HG02293.hp1 HG02559.hp1 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.6922-844T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 46/55 | chr2 | 203192951 | ||||||
| chr2:203192963
|
C | CT | 13 | a0001c0001t0002g0113a0001c0001t0002g0117a0001c0001t0002g0184others(10): Show | 13 | HG00423.hp1 HG00597.hp1 HG00609.hp1 others(10): Show |
intron_variant | MODIFIER | c.6922-806dupT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 46/55 | INFO_REALIGN_3_PRIME | chr2 | 203192963 | |||||
| chr2:203192963
|
CT | C | 7 | a0001c0001t0002g0079a0001c0001t0002g0119a0001c0001t0002g0123others(4): Show | 7 | HG01167.hp1 HG01256.hp2 HG01952.hp1 others(4): Show |
intron_variant | MODIFIER | c.6922-806delT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 46/55 | INFO_REALIGN_3_PRIME | chr2 | 203192963 | |||||
| chr2:203192964
|
T | TTTC | 6 | a0001c0001t0001g0211a0001c0001t0001g0225a0001c0001t0001g0253others(3): Show | 6 | HG02080.hp1 HG02165.hp2 HG02897.hp1 others(3): Show |
intron_variant | MODIFIER | c.6922-829_6922-828i others(5): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 46/55 | INFO_REALIGN_3_PRIME | chr2 | 203192964 | |||||
| chr2:203192965
|
T | C | 10 | a0001c0001t0005g0283a0001c0001t0019g0279a0001c0001t0019g0280others(7): Show | 10 | HG00438.hp1 HG00738.hp2 HG01099.hp1 others(7): Show |
intron_variant | MODIFIER | c.6922-830T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 46/55 | chr2 | 203192965 | ||||||
| chr2:203192965
|
T | TTC | 93 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(90): Show | 93 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(90): Show |
intron_variant | MODIFIER | c.6922-829_6922-828i others(4): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 46/55 | INFO_REALIGN_3_PRIME | chr2 | 203192965 | |||||
| chr2:203192966
|
T | C | 2 | a0001c0001t0005g0277a0001c0004t0005g0278 | 2 | HG01167.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.6922-829T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 46/55 | chr2 | 203192966 | ||||||
| chr2:203192966
|
T | TC | 6 | a0001c0001t0001g0195a0001c0001t0001g0206a0001c0001t0001g0245others(3): Show | 6 | HG01975.hp1 HG02055.hp1 NA18951.hp2 others(3): Show |
intron_variant | MODIFIER | c.6922-829_6922-828i others(3): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 46/55 | chr2 | 203192966 | ||||||
| chr2:203192972
|
T | C | 1 | a0001c0001t0001g0258 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.6922-823T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 46/55 | chr2 | 203192972 | ||||||
| chr2:203192992
|
G | C | 110 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(107): Show | 110 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(107): Show |
intron_variant | MODIFIER | c.6922-803G>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 46/55 | chr2 | 203192992 | ||||||
| chr2:203193152
|
A | T | 1 | a0001c0001t0016g0155 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.6922-643A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 46/55 | chr2 | 203193152 | ||||||
| chr2:203193206
|
A | G | 1 | a0001c0001t0002g0133 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.6922-589A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 46/55 | chr2 | 203193206 | ||||||
| chr2:203193387
|
G | C | 2 | a0002c0002t0003g0065a0002c0002t0026g0094 | 2 | HG00738.hp1 HG01943.hp2 |
intron_variant | MODIFIER | c.6922-408G>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 46/55 | chr2 | 203193387 | ||||||
| chr2:203194265
|
G | T | 1 | a0001c0001t0033g0136 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.7038+354G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 47/55 | chr2 | 203194265 | ||||||
| chr2:203194566
|
TAATAACT others(11): Show |
T | 4 | a0003c0003t0004g0026a0003c0003t0004g0027a0003c0003t0004g0028others(1): Show | 4 | HG02572.hp1 HG02896.hp2 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.7038+656_7038+673d others(20): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 47/55 | chr2 | 203194566 | ||||||
| chr2:203194737
|
A | C | 1 | a0011c0029t0028g0095 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.7038+826A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 47/55 | chr2 | 203194737 | ||||||
| chr2:203194809
|
C | T | 2 | a0003c0012t0011g0025a0003c0012t0011g0043 | 2 | HG02559.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.7038+898C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 47/55 | chr2 | 203194809 | ||||||
| chr2:203195054
|
A | G | 253 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(250): Show | 253 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(250): Show |
intron_variant | MODIFIER | c.7038+1143A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 47/55 | chr2 | 203195054 | ||||||
| chr2:203195156
|
T | G | 253 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(250): Show | 253 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(250): Show |
intron_variant | MODIFIER | c.7038+1245T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 47/55 | chr2 | 203195156 | ||||||
| chr2:203195159
|
A | T | 2 | a0002c0002t0003g0063a0002c0002t0003g0064 | 2 | NA18988.hp1 NA19088.hp2 |
intron_variant | MODIFIER | c.7038+1248A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 47/55 | chr2 | 203195159 | ||||||
| chr2:203195168
|
G | A | 1 | a0001c0001t0001g0231 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.7038+1257G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 47/55 | chr2 | 203195168 | ||||||
| chr2:203195425
|
G | T | 144 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(141): Show | 144 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(141): Show |
intron_variant | MODIFIER | c.7038+1514G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 47/55 | chr2 | 203195425 | ||||||
| chr2:203195585
|
G | A | 2 | a0001c0009t0007g0055a0001c0009t0007g0057 | 2 | HG02976.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.7038+1674G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 47/55 | chr2 | 203195585 | ||||||
| chr2:203195957
|
A | G | 2 | a0001c0001t0001g0051a0001c0004t0005g0273 | 2 | HG01496.hp2 HG02258.hp1 |
intron_variant | MODIFIER | c.7039-1345A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 47/55 | chr2 | 203195957 | ||||||
| chr2:203196112
|
CCATAATC others(7): Show |
C | 1 | a0002c0002t0003g0062 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.7039-1186_7039-117 others(18): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 47/55 | INFO_REALIGN_3_PRIME | chr2 | 203196112 | |||||
| chr2:203196166
|
A | G | 135 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(132): Show | 135 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(132): Show |
intron_variant | MODIFIER | c.7039-1136A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 47/55 | chr2 | 203196166 | ||||||
| chr2:203196186
|
T | G | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.7039-1116T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 47/55 | chr2 | 203196186 | ||||||
| chr2:203196209
|
G | C | 5 | a0003c0003t0004g0030a0003c0003t0004g0032a0003c0003t0004g0034others(2): Show | 5 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(2): Show |
intron_variant | MODIFIER | c.7039-1093G>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 47/55 | chr2 | 203196209 | ||||||
| chr2:203196252
|
C | T | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.7039-1050C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 47/55 | chr2 | 203196252 | ||||||
| chr2:203196499
|
T | G | 2 | a0001c0009t0007g0056a0013c0027t0007g0053 | 2 | HG02109.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.7039-803T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 47/55 | chr2 | 203196499 | ||||||
| chr2:203196521
|
T | G | 1 | a0001c0004t0005g0278 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.7039-781T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 47/55 | chr2 | 203196521 | ||||||
| chr2:203196572
|
A | G | 291 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(288): Show | 291 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(288): Show |
intron_variant | MODIFIER | c.7039-730A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 47/55 | chr2 | 203196572 | ||||||
| chr2:203196973
|
G | A | 1 | a0001c0001t0001g0177 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.7039-329G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 47/55 | chr2 | 203196973 | ||||||
| chr2:203197115
|
A | G | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.7039-187A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 47/55 | chr2 | 203197115 | ||||||
| chr2:203197234
|
C | T | 2 | a0001c0001t0001g0209a0001c0001t0001g0210 | 2 | HG00673.hp2 NA18946.hp2 |
intron_variant | MODIFIER | c.7039-68C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 47/55 | chr2 | 203197234 | ||||||
| chr2:203197501
|
G | A | 1 | a0001c0001t0004g0081 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.7128+110G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 48/55 | chr2 | 203197501 | ||||||
| chr2:203197521
|
C | T | 1 | a0006c0011t0045g0023 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.7128+130C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 48/55 | chr2 | 203197521 | ||||||
| chr2:203197606
|
T | C | 98 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(95): Show | 98 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(95): Show |
intron_variant | MODIFIER | c.7128+215T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 48/55 | chr2 | 203197606 | ||||||
| chr2:203197722
|
A | T | 1 | a0001c0001t0024g0016 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.7128+331A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 48/55 | chr2 | 203197722 | ||||||
| chr2:203197751
|
T | C | 2 | a0001c0001t0015g0127a0001c0001t0015g0128 | 2 | HG00733.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.7128+360T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 48/55 | chr2 | 203197751 | ||||||
| chr2:203198005
|
A | T | 11 | a0001c0001t0005g0283a0001c0001t0019g0279a0001c0001t0019g0280others(8): Show | 11 | HG00438.hp1 HG00738.hp2 HG01099.hp1 others(8): Show |
intron_variant | MODIFIER | c.7128+614A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 48/55 | chr2 | 203198005 | ||||||
| chr2:203198007
|
T | A | 143 | a0001c0001t0001g0188a0001c0001t0001g0217a0001c0001t0001g0266others(140): Show | 143 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(140): Show |
intron_variant | MODIFIER | c.7128+616T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 48/55 | chr2 | 203198007 | ||||||
| chr2:203198020
|
C | CT | 112 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(109): Show | 112 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(109): Show |
intron_variant | MODIFIER | c.7128+646dupT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 48/55 | INFO_REALIGN_3_PRIME | chr2 | 203198020 | |||||
| chr2:203198283
|
C | T | 1 | a0001c0001t0041g0054 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.7128+892C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 48/55 | chr2 | 203198283 | ||||||
| chr2:203198549
|
G | A | 1 | a0001c0001t0001g0197 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.7129-789G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 48/55 | chr2 | 203198549 | ||||||
| chr2:203198582
|
T | A | 2 | a0001c0001t0013g0251a0001c0001t0013g0257 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.7129-756T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 48/55 | chr2 | 203198582 | ||||||
| chr2:203198627
|
G | A | 110 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(107): Show | 110 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(107): Show |
intron_variant | MODIFIER | c.7129-711G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 48/55 | chr2 | 203198627 | ||||||
| chr2:203198847
|
ACT | A | 4 | a0001c0001t0001g0220a0001c0001t0001g0243a0001c0001t0001g0244others(1): Show | 4 | HG01081.hp1 NA18970.hp2 NA18991.hp1 others(1): Show |
intron_variant | MODIFIER | c.7129-488_7129-487d others(4): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 48/55 | INFO_REALIGN_3_PRIME | chr2 | 203198847 | |||||
| chr2:203198856
|
CA | C | 14 | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0011others(11): Show | 14 | HG00408.hp2 HG01496.hp2 HG01884.hp1 others(11): Show |
intron_variant | MODIFIER | c.7129-465delA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 48/55 | INFO_REALIGN_3_PRIME | chr2 | 203198856 | |||||
| chr2:203198925
|
C | T | 92 | a0001c0001t0001g0020a0001c0001t0001g0051a0001c0001t0001g0052others(89): Show | 92 | HG00323.hp2 HG00423.hp2 HG00597.hp2 others(89): Show |
intron_variant | MODIFIER | c.7129-413C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 48/55 | chr2 | 203198925 | ||||||
| chr2:203198978
|
G | A | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.7129-360G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 48/55 | chr2 | 203198978 | ||||||
| chr2:203199544
|
A | AT | 10 | a0001c0007t0002g0059a0001c0007t0002g0090a0001c0007t0002g0091others(7): Show | 10 | HG02145.hp1 HG02257.hp1 HG02559.hp2 others(7): Show |
intron_variant | MODIFIER | c.7238+115dupT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 49/55 | INFO_REALIGN_3_PRIME | chr2 | 203199544 | |||||
| chr2:203199544
|
AT | A | 19 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0195others(16): Show | 19 | HG01099.hp2 HG01168.hp1 HG01168.hp2 others(16): Show |
intron_variant | MODIFIER | c.7238+115delT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 49/55 | INFO_REALIGN_3_PRIME | chr2 | 203199544 | |||||
| chr2:203199759
|
G | A | 247 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(244): Show | 247 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(244): Show |
intron_variant | MODIFIER | c.7238+312G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 49/55 | chr2 | 203199759 | ||||||
| chr2:203200116
|
C | T | 13 | a0001c0001t0005g0277a0001c0001t0005g0283a0001c0001t0019g0279others(10): Show | 13 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.7238+669C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 49/55 | chr2 | 203200116 | ||||||
| chr2:203200203
|
C | T | 1 | a0001c0001t0001g0231 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.7238+756C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 49/55 | chr2 | 203200203 | ||||||
| chr2:203200353
|
A | C | 16 | a0001c0001t0004g0081a0003c0003t0004g0024a0003c0003t0004g0030others(13): Show | 16 | HG00733.hp1 HG01109.hp1 HG01168.hp1 others(13): Show |
intron_variant | MODIFIER | c.7238+906A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 49/55 | chr2 | 203200353 | ||||||
| chr2:203200930
|
A | G | 1 | a0001c0001t0041g0054 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.7239-613A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 49/55 | chr2 | 203200930 | ||||||
| chr2:203201122
|
A | G | 2 | a0001c0009t0007g0055a0001c0009t0007g0057 | 2 | HG02976.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.7239-421A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 49/55 | chr2 | 203201122 | ||||||
| chr2:203201533
|
G | A | 2 | a0002c0002t0025g0075a0015c0021t0003g0074 | 2 | HG02257.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.7239-10G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 49/55 | chr2 | 203201533 | ||||||
| chr2:203201948
|
G | A | 5 | a0001c0001t0001g0212a0001c0001t0001g0221a0001c0001t0001g0222others(2): Show | 5 | HG00323.hp2 HG01168.hp2 HG01175.hp1 others(2): Show |
intron_variant | MODIFIER | c.7411+233G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 50/55 | chr2 | 203201948 | ||||||
| chr2:203202121
|
T | C | 1 | a0001c0001t0041g0054 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.7411+406T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 50/55 | chr2 | 203202121 | ||||||
| chr2:203202545
|
A | G | 252 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(249): Show | 252 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(249): Show |
intron_variant | MODIFIER | c.7412-142A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 50/55 | chr2 | 203202545 | ||||||
| chr2:203202640
|
T | G | 18 | a0001c0001t0002g0098a0001c0001t0002g0107a0001c0001t0002g0111others(15): Show | 18 | HG00423.hp1 HG00438.hp2 HG00609.hp1 others(15): Show |
intron_variant | MODIFIER | c.7412-47T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 50/55 | chr2 | 203202640 | ||||||
| chr2:203202660
|
C | G | 1 | a0001c0001t0001g0268 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.7412-27C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 50/55 | chr2 | 203202660 | ||||||
| chr2:203202680
|
C | A | 2 | a0003c0012t0011g0025a0003c0012t0011g0043 | 2 | HG02559.hp2 NA19043.hp1 |
splice_region_variant&intron_variant | LOW | c.7412-7C>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 50/55 | chr2 | 203202680 | ||||||
| chr2:203203186
|
T | C | 1 | a0003c0003t0004g0024 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.7506+405T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203203186 | ||||||
| chr2:203203235
|
G | A | 1 | a0003c0003t0004g0033 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.7506+454G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203203235 | ||||||
| chr2:203203307
|
A | AT | 241 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(238): Show | 241 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(238): Show |
intron_variant | MODIFIER | c.7506+536dupT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | INFO_REALIGN_3_PRIME | chr2 | 203203307 | |||||
| chr2:203203307
|
A | ATT | 7 | a0001c0001t0001g0193a0001c0001t0001g0195a0001c0001t0001g0196others(4): Show | 7 | HG00741.hp1 HG01256.hp1 HG01943.hp1 others(4): Show |
intron_variant | MODIFIER | c.7506+535_7506+536d others(4): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | INFO_REALIGN_3_PRIME | chr2 | 203203307 | |||||
| chr2:203203320
|
T | C | 1 | a0001c0001t0001g0220 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.7506+539T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203203320 | ||||||
| chr2:203203470
|
C | T | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.7506+689C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203203470 | ||||||
| chr2:203203612
|
G | A | 3 | a0001c0001t0034g0058a0002c0002t0025g0075a0015c0021t0003g0074 | 3 | HG02257.hp2 HG02622.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.7506+831G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203203612 | ||||||
| chr2:203203825
|
A | G | 1 | a0006c0011t0045g0023 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.7506+1044A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203203825 | ||||||
| chr2:203203886
|
T | C | 3 | a0006c0011t0017g0018a0006c0011t0045g0023a0020c0017t0017g0017 | 3 | HG03195.hp2 HG03225.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.7506+1105T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203203886 | ||||||
| chr2:203203915
|
G | GT | 3 | a0001c0001t0001g0226a0001c0001t0001g0237a0001c0001t0001g0253 | 3 | HG04228.hp2 NA19003.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.7506+1135dupT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | INFO_REALIGN_3_PRIME | chr2 | 203203915 | |||||
| chr2:203203917
|
G | T | 249 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(246): Show | 249 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(246): Show |
intron_variant | MODIFIER | c.7506+1136G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203203917 | ||||||
| chr2:203203918
|
T | G | 1 | a0002c0002t0003g0062 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.7506+1137T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203203918 | ||||||
| chr2:203203970
|
C | T | 1 | a0001c0001t0002g0137 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.7506+1189C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203203970 | ||||||
| chr2:203203971
|
C | T | 2 | a0002c0002t0003g0065a0002c0002t0026g0094 | 2 | HG00738.hp1 HG01943.hp2 |
intron_variant | MODIFIER | c.7506+1190C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203203971 | ||||||
| chr2:203203974
|
G | C | 2 | a0002c0002t0003g0065a0002c0002t0026g0094 | 2 | HG00738.hp1 HG01943.hp2 |
intron_variant | MODIFIER | c.7506+1193G>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203203974 | ||||||
| chr2:203204074
|
G | A | 1 | a0003c0003t0004g0031 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.7506+1293G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203204074 | ||||||
| chr2:203204244
|
T | A | 3 | a0001c0001t0005g0277a0003c0012t0011g0025a0003c0012t0011g0043 | 3 | HG02559.hp2 HG02717.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.7506+1463T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203204244 | ||||||
| chr2:203204245
|
A | T | 9 | a0001c0001t0001g0020a0001c0001t0001g0188a0001c0001t0001g0231others(6): Show | 9 | HG02486.hp1 HG02630.hp2 HG02818.hp1 others(6): Show |
intron_variant | MODIFIER | c.7506+1464A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203204245 | ||||||
| chr2:203204322
|
T | A | 2 | a0001c0001t0002g0120a0001c0001t0002g0121 | 2 | NA18946.hp1 NA18951.hp1 |
intron_variant | MODIFIER | c.7506+1541T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203204322 | ||||||
| chr2:203204324
|
G | GT | 12 | a0001c0001t0001g0003a0001c0001t0001g0013a0001c0001t0001g0208others(9): Show | 12 | HG00423.hp2 HG01081.hp2 HG01255.hp1 others(9): Show |
intron_variant | MODIFIER | c.7506+1561dupT | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | INFO_REALIGN_3_PRIME | chr2 | 203204324 | |||||
| chr2:203204324
|
G | T | 2 | a0001c0001t0001g0186a0001c0001t0001g0245 | 2 | HG03834.hp2 NA18969.hp2 |
intron_variant | MODIFIER | c.7506+1543G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203204324 | ||||||
| chr2:203204421
|
C | T | 1 | a0002c0002t0003g0061 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.7506+1640C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203204421 | ||||||
| chr2:203204620
|
G | A | 1 | a0002c0002t0003g0078 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.7506+1839G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203204620 | ||||||
| chr2:203204678
|
G | A | 249 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(246): Show | 249 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(246): Show |
intron_variant | MODIFIER | c.7506+1897G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203204678 | ||||||
| chr2:203204883
|
T | C | 19 | a0001c0001t0004g0081a0003c0003t0004g0024a0003c0003t0004g0026others(16): Show | 19 | HG00733.hp1 HG01109.hp1 HG01169.hp1 others(16): Show |
intron_variant | MODIFIER | c.7506+2102T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203204883 | ||||||
| chr2:203205032
|
G | A | 1 | a0001c0001t0002g0132 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.7506+2251G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203205032 | ||||||
| chr2:203205750
|
TCTTTACC others(15): Show |
T | 1 | a0001c0001t0024g0016 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.7507-2886_7507-286 others(26): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203205750 | ||||||
| chr2:203205764
|
A | G | 246 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(243): Show | 246 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(243): Show |
intron_variant | MODIFIER | c.7507-2873A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203205764 | ||||||
| chr2:203205780
|
T | C | 1 | a0001c0001t0005g0277 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.7507-2857T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203205780 | ||||||
| chr2:203206233
|
A | G | 13 | a0001c0001t0005g0277a0001c0001t0005g0283a0001c0001t0019g0279others(10): Show | 13 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.7507-2404A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203206233 | ||||||
| chr2:203206604
|
GAAC | G | 249 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(246): Show | 249 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(246): Show |
intron_variant | MODIFIER | c.7507-2031_7507-202 others(7): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | INFO_REALIGN_3_PRIME | chr2 | 203206604 | |||||
| chr2:203206708
|
C | G | 1 | a0001c0001t0001g0193 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.7507-1929C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203206708 | ||||||
| chr2:203206709
|
C | G | 1 | a0001c0001t0001g0193 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.7507-1928C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203206709 | ||||||
| chr2:203206743
|
T | G | 19 | a0001c0001t0004g0081a0003c0003t0004g0024a0003c0003t0004g0026others(16): Show | 19 | HG00733.hp1 HG01109.hp1 HG01169.hp1 others(16): Show |
intron_variant | MODIFIER | c.7507-1894T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203206743 | ||||||
| chr2:203206812
|
C | T | 3 | a0006c0011t0017g0018a0006c0011t0045g0023a0020c0017t0017g0017 | 3 | HG03195.hp2 HG03225.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.7507-1825C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203206812 | ||||||
| chr2:203206835
|
C | T | 121 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(118): Show | 121 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(118): Show |
intron_variant | MODIFIER | c.7507-1802C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203206835 | ||||||
| chr2:203206861
|
G | C | 291 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(288): Show | 291 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(288): Show |
intron_variant | MODIFIER | c.7507-1776G>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203206861 | ||||||
| chr2:203206887
|
A | G | 2 | a0001c0001t0014g0019a0001c0001t0014g0260 | 2 | HG02486.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.7507-1750A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203206887 | ||||||
| chr2:203206901
|
C | G | 1 | a0001c0001t0024g0016 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.7507-1736C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203206901 | ||||||
| chr2:203206961
|
A | T | 1 | a0001c0001t0020g0140 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.7507-1676A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203206961 | ||||||
| chr2:203206998
|
C | A | 1 | a0001c0001t0020g0140 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.7507-1639C>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203206998 | ||||||
| chr2:203207004
|
A | G | 1 | a0001c0001t0020g0140 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.7507-1633A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203207004 | ||||||
| chr2:203207025
|
T | C | 1 | a0001c0001t0020g0140 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.7507-1612T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203207025 | ||||||
| chr2:203207028
|
G | A | 1 | a0001c0001t0024g0016 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.7507-1609G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203207028 | ||||||
| chr2:203207039
|
A | G | 1 | a0001c0001t0020g0140 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.7507-1598A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203207039 | ||||||
| chr2:203207104
|
G | A | 2 | a0001c0009t0007g0055a0001c0009t0007g0057 | 2 | HG02976.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.7507-1533G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203207104 | ||||||
| chr2:203207170
|
C | A | 2 | a0001c0001t0014g0019a0001c0001t0014g0260 | 2 | HG02486.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.7507-1467C>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203207170 | ||||||
| chr2:203207176
|
C | T | 2 | a0001c0001t0014g0019a0001c0001t0014g0260 | 2 | HG02486.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.7507-1461C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203207176 | ||||||
| chr2:203207187
|
C | T | 1 | a0001c0009t0007g0057 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.7507-1450C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203207187 | ||||||
| chr2:203207220
|
T | C | 250 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(247): Show | 250 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(247): Show |
intron_variant | MODIFIER | c.7507-1417T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203207220 | ||||||
| chr2:203207251
|
A | G | 249 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(246): Show | 249 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(246): Show |
intron_variant | MODIFIER | c.7507-1386A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203207251 | ||||||
| chr2:203207267
|
C | G | 115 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(112): Show | 115 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(112): Show |
intron_variant | MODIFIER | c.7507-1370C>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203207267 | ||||||
| chr2:203207297
|
A | G | 252 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(249): Show | 252 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(249): Show |
intron_variant | MODIFIER | c.7507-1340A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203207297 | ||||||
| chr2:203207340
|
G | A | 1 | a0006c0011t0017g0018 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.7507-1297G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203207340 | ||||||
| chr2:203207454
|
T | C | 1 | a0001c0001t0006g0254 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.7507-1183T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203207454 | ||||||
| chr2:203207580
|
C | T | 1 | a0003c0012t0011g0025 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.7507-1057C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203207580 | ||||||
| chr2:203207640
|
C | T | 1 | a0001c0001t0005g0277 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.7507-997C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203207640 | ||||||
| chr2:203207775
|
C | T | 2 | a0002c0002t0025g0075a0015c0021t0003g0074 | 2 | HG02257.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.7507-862C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203207775 | ||||||
| chr2:203207784
|
G | A | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.7507-853G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203207784 | ||||||
| chr2:203208111
|
C | T | 1 | a0001c0031t0002g0159 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.7507-526C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203208111 | ||||||
| chr2:203208148
|
G | C | 249 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(246): Show | 249 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(246): Show |
intron_variant | MODIFIER | c.7507-489G>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203208148 | ||||||
| chr2:203208237
|
G | A | 1 | a0001c0001t0014g0260 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.7507-400G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203208237 | ||||||
| chr2:203208306
|
A | G | 3 | a0006c0011t0017g0018a0006c0011t0045g0023a0020c0017t0017g0017 | 3 | HG03195.hp2 HG03225.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.7507-331A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203208306 | ||||||
| chr2:203208449
|
T | G | 2 | a0006c0011t0017g0018a0020c0017t0017g0017 | 2 | HG03225.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.7507-188T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203208449 | ||||||
| chr2:203208497
|
G | A | 1 | a0002c0002t0003g0078 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.7507-140G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 51/55 | chr2 | 203208497 | ||||||
| chr2:203208811
|
C | T | 1 | a0001c0001t0029g0236 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.7623+58C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 52/55 | chr2 | 203208811 | ||||||
| chr2:203209007
|
G | C | 4 | a0003c0003t0004g0038a0003c0003t0004g0039a0003c0003t0004g0040others(1): Show | 4 | HG01884.hp1 HG03130.hp1 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.7624-154G>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 52/55 | chr2 | 203209007 | ||||||
| chr2:203209096
|
C | T | 1 | a0001c0001t0041g0054 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.7624-65C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 52/55 | chr2 | 203209096 | ||||||
| chr2:203209355
|
C | T | 1 | a0019c0013t0003g0077 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.7785+33C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 53/55 | chr2 | 203209355 | ||||||
| chr2:203209356
|
C | T | 2 | a0001c0001t0014g0019a0001c0001t0014g0260 | 2 | HG02486.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.7785+34C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 53/55 | chr2 | 203209356 | ||||||
| chr2:203209380
|
A | G | 1 | a0001c0001t0035g0256 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.7785+58A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 53/55 | chr2 | 203209380 | ||||||
| chr2:203209494
|
C | T | 4 | a0001c0001t0014g0019a0001c0001t0014g0260a0001c0009t0007g0056others(1): Show | 4 | HG02109.hp2 HG02486.hp2 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.7785+172C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 53/55 | chr2 | 203209494 | ||||||
| chr2:203209500
|
C | T | 1 | a0010c0015t0001g0214 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.7785+178C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 53/55 | chr2 | 203209500 | ||||||
| chr2:203209563
|
T | C | 1 | a0002c0002t0003g0061 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.7785+241T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 53/55 | chr2 | 203209563 | ||||||
| chr2:203209711
|
A | ATGTGTGT others(5): Show |
1 | a0001c0001t0002g0134 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.7785+390_7785+391i others(14): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 53/55 | INFO_REALIGN_3_PRIME | chr2 | 203209711 | |||||
| chr2:203209713
|
A | ATG | 17 | a0001c0001t0002g0099a0001c0001t0002g0148a0002c0002t0003g0049others(14): Show | 17 | HG02109.hp1 HG02129.hp1 HG02132.hp1 others(14): Show |
intron_variant | MODIFIER | c.7785+423_7785+424d others(4): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 53/55 | INFO_REALIGN_3_PRIME | chr2 | 203209713 | |||||
| chr2:203209713
|
A | ATGTGTG | 30 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0234others(27): Show | 30 | HG00408.hp2 HG00438.hp1 HG00733.hp1 others(27): Show |
intron_variant | MODIFIER | c.7785+419_7785+424d others(8): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 53/55 | INFO_REALIGN_3_PRIME | chr2 | 203209713 | |||||
| chr2:203209713
|
A | ATGTGTGT others(1): Show |
41 | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0013others(38): Show | 41 | HG00323.hp1 HG00609.hp2 HG00642.hp1 others(38): Show |
intron_variant | MODIFIER | c.7785+417_7785+424d others(10): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 53/55 | INFO_REALIGN_3_PRIME | chr2 | 203209713 | |||||
| chr2:203209713
|
A | ATGTGTGT others(3): Show |
92 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(89): Show | 92 | HG00323.hp2 HG00544.hp2 HG00597.hp2 others(89): Show |
intron_variant | MODIFIER | c.7785+415_7785+424d others(12): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 53/55 | INFO_REALIGN_3_PRIME | chr2 | 203209713 | |||||
| chr2:203209713
|
A | ATGTGTGT others(5): Show |
54 | a0001c0001t0001g0003a0001c0001t0001g0206a0001c0001t0001g0208others(51): Show | 54 | HG00423.hp1 HG00423.hp2 HG00597.hp1 others(51): Show |
intron_variant | MODIFIER | c.7785+413_7785+424d others(14): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 53/55 | INFO_REALIGN_3_PRIME | chr2 | 203209713 | |||||
| chr2:203209713
|
A | ATGTGTGT others(7): Show |
15 | a0001c0001t0001g0227a0001c0001t0002g0098a0001c0001t0002g0110others(12): Show | 15 | HG00438.hp2 HG00544.hp1 HG00609.hp1 others(12): Show |
intron_variant | MODIFIER | c.7785+411_7785+424d others(16): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 53/55 | INFO_REALIGN_3_PRIME | chr2 | 203209713 | |||||
| chr2:203209713
|
A | ATGTGTGT others(9): Show |
8 | a0001c0001t0002g0107a0001c0001t0002g0118a0001c0001t0002g0137others(5): Show | 8 | HG00408.hp1 HG02109.hp2 HG02486.hp2 others(5): Show |
intron_variant | MODIFIER | c.7785+409_7785+424d others(18): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 53/55 | INFO_REALIGN_3_PRIME | chr2 | 203209713 | |||||
| chr2:203209713
|
A | ATGTGTGT others(13): Show |
3 | a0001c0001t0001g0248a0001c0001t0041g0054a0001c0009t0007g0055 | 3 | HG02451.hp1 HG02976.hp1 NA19078.hp1 |
intron_variant | MODIFIER | c.7785+405_7785+424d others(22): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 53/55 | INFO_REALIGN_3_PRIME | chr2 | 203209713 | |||||
| chr2:203209713
|
A | ATGTGTGT others(15): Show |
1 | a0001c0009t0007g0057 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.7785+403_7785+424d others(24): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 53/55 | INFO_REALIGN_3_PRIME | chr2 | 203209713 | |||||
| chr2:203209713
|
A | G | 1 | a0001c0001t0002g0134 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.7785+391A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 53/55 | chr2 | 203209713 | ||||||
| chr2:203210136
|
G | A | 1 | a0001c0001t0035g0256 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.7785+814G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 53/55 | chr2 | 203210136 | ||||||
| chr2:203210362
|
C | CA | 115 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(112): Show | 115 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(112): Show |
intron_variant | MODIFIER | c.7786-579dupA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 53/55 | INFO_REALIGN_3_PRIME | chr2 | 203210362 | |||||
| chr2:203210362
|
C | CAA | 10 | a0001c0001t0001g0020a0001c0001t0001g0188a0001c0001t0001g0208others(7): Show | 10 | HG00423.hp2 HG02135.hp1 HG02486.hp1 others(7): Show |
intron_variant | MODIFIER | c.7786-580_7786-579d others(4): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 53/55 | INFO_REALIGN_3_PRIME | chr2 | 203210362 | |||||
| chr2:203210379
|
A | AAG | 6 | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0011others(3): Show | 6 | HG00408.hp2 HG02083.hp2 HG02135.hp2 others(3): Show |
intron_variant | MODIFIER | c.7786-579_7786-578i others(4): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 53/55 | chr2 | 203210379 | ||||||
| chr2:203210474
|
A | G | 253 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(250): Show | 253 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(250): Show |
intron_variant | MODIFIER | c.7786-484A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 53/55 | chr2 | 203210474 | ||||||
| chr2:203210624
|
A | G | 2 | a0003c0012t0011g0025a0003c0012t0011g0043 | 2 | HG02559.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.7786-334A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 53/55 | chr2 | 203210624 | ||||||
| chr2:203210778
|
G | A | 3 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089 | 3 | HG01257.hp1 HG01952.hp1 HG03669.hp1 |
intron_variant | MODIFIER | c.7786-180G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 53/55 | chr2 | 203210778 | ||||||
| chr2:203210785
|
G | T | 1 | a0001c0001t0002g0117 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.7786-173G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 53/55 | chr2 | 203210785 | ||||||
| chr2:203210933
|
T | G | 2 | a0003c0012t0011g0025a0003c0012t0011g0043 | 2 | HG02559.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.7786-25T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 53/55 | chr2 | 203210933 | ||||||
| chr2:203211168
|
T | A | 1 | a0001c0001t0024g0016 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.7934+62T>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 54/55 | chr2 | 203211168 | ||||||
| chr2:203211271
|
G | A | 1 | a0001c0001t0024g0016 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.7934+165G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 54/55 | chr2 | 203211271 | ||||||
| chr2:203211373
|
A | G | 252 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(249): Show | 252 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(249): Show |
intron_variant | MODIFIER | c.7934+267A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 54/55 | chr2 | 203211373 | ||||||
| chr2:203211373
|
A | T | 2 | a0006c0011t0017g0018a0020c0017t0017g0017 | 2 | HG03225.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.7934+267A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 54/55 | chr2 | 203211373 | ||||||
| chr2:203211644
|
A | G | 1 | a0002c0002t0003g0021 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.7934+538A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 54/55 | chr2 | 203211644 | ||||||
| chr2:203211924
|
G | C | 5 | a0002c0002t0003g0046a0002c0002t0003g0048a0002c0002t0003g0049others(2): Show | 5 | HG02145.hp2 HG02451.hp2 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.7934+818G>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 54/55 | chr2 | 203211924 | ||||||
| chr2:203211956
|
T | G | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.7934+850T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 54/55 | chr2 | 203211956 | ||||||
| chr2:203212023
|
A | C | 2 | a0003c0012t0011g0025a0003c0012t0011g0043 | 2 | HG02559.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.7934+917A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 54/55 | chr2 | 203212023 | ||||||
| chr2:203212606
|
C | CA | 36 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(33): Show | 36 | HG00408.hp2 HG00642.hp2 HG01192.hp2 others(33): Show |
intron_variant | MODIFIER | c.7935-895dupA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 54/55 | INFO_REALIGN_3_PRIME | chr2 | 203212606 | |||||
| chr2:203212606
|
CA | C | 16 | a0001c0001t0001g0185a0001c0001t0002g0153a0001c0001t0005g0277others(13): Show | 16 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(13): Show |
intron_variant | MODIFIER | c.7935-895delA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 54/55 | INFO_REALIGN_3_PRIME | chr2 | 203212606 | |||||
| chr2:203212707
|
G | A | 1 | a0002c0002t0003g0063 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.7935-811G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 54/55 | chr2 | 203212707 | ||||||
| chr2:203213108
|
G | T | 1 | a0002c0002t0008g0088 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.7935-410G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 54/55 | chr2 | 203213108 | ||||||
| chr2:203214372
|
A | C | 2 | a0001c0001t0001g0051a0001c0001t0001g0052 | 2 | HG02258.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.8070+719A>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 55/55 | chr2 | 203214372 | ||||||
| chr2:203214550
|
G | C | 2 | a0001c0009t0007g0055a0001c0009t0007g0057 | 2 | HG02976.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.8070+897G>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 55/55 | chr2 | 203214550 | ||||||
| chr2:203214590
|
C | T | 127 | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(124): Show | 127 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(124): Show |
intron_variant | MODIFIER | c.8070+937C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 55/55 | chr2 | 203214590 | ||||||
| chr2:203214723
|
G | A | 1 | a0001c0001t0002g0134 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.8070+1070G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 55/55 | chr2 | 203214723 | ||||||
| chr2:203215133
|
G | A | 1 | a0001c0001t0001g0220 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.8070+1480G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 55/55 | chr2 | 203215133 | ||||||
| chr2:203215139
|
T | C | 1 | a0001c0001t0023g0045 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.8070+1486T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 55/55 | chr2 | 203215139 | ||||||
| chr2:203215165
|
A | G | 249 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(246): Show | 249 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(246): Show |
intron_variant | MODIFIER | c.8070+1512A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 55/55 | chr2 | 203215165 | ||||||
| chr2:203215276
|
G | A | 1 | a0001c0001t0004g0081 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.8070+1623G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 55/55 | chr2 | 203215276 | ||||||
| chr2:203215352
|
A | T | 7 | a0001c0001t0014g0019a0001c0001t0014g0260a0001c0001t0041g0054others(4): Show | 7 | HG02109.hp2 HG02451.hp1 HG02486.hp2 others(4): Show |
intron_variant | MODIFIER | c.8070+1699A>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 55/55 | chr2 | 203215352 | ||||||
| chr2:203215861
|
A | G | 1 | a0001c0001t0001g0177 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.8071-1392A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 55/55 | chr2 | 203215861 | ||||||
| chr2:203215877
|
G | T | 6 | a0001c0001t0002g0103a0001c0001t0002g0119a0001c0001t0002g0120others(3): Show | 6 | NA18940.hp2 NA18946.hp1 NA18951.hp1 others(3): Show |
intron_variant | MODIFIER | c.8071-1376G>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 55/55 | chr2 | 203215877 | ||||||
| chr2:203216009
|
TA | T | 174 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(171): Show | 174 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(171): Show |
intron_variant | MODIFIER | c.8071-1225delA | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 55/55 | INFO_REALIGN_3_PRIME | chr2 | 203216009 | |||||
| chr2:203216009
|
TAA | T | 109 | a0001c0001t0001g0186a0001c0001t0001g0265a0001c0001t0002g0079others(106): Show | 109 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(106): Show |
intron_variant | MODIFIER | c.8071-1226_8071-122 others(6): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 55/55 | INFO_REALIGN_3_PRIME | chr2 | 203216009 | |||||
| chr2:203216119
|
A | G | 1 | a0001c0001t0002g0183 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.8071-1134A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 55/55 | chr2 | 203216119 | ||||||
| chr2:203216293
|
T | C | 1 | a0001c0001t0006g0254 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.8071-960T>C | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 55/55 | chr2 | 203216293 | ||||||
| chr2:203216352
|
T | G | 1 | a0001c0007t0002g0092 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.8071-901T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 55/55 | chr2 | 203216352 | ||||||
| chr2:203216377
|
T | G | 1 | a0004c0005t0009g0170 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.8071-876T>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 55/55 | chr2 | 203216377 | ||||||
| chr2:203216588
|
A | G | 252 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(249): Show | 252 | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(249): Show |
intron_variant | MODIFIER | c.8071-665A>G | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 55/55 | chr2 | 203216588 | ||||||
| chr2:203216952
|
C | T | 13 | a0001c0001t0005g0277a0001c0001t0005g0283a0001c0001t0019g0279others(10): Show | 13 | HG00438.hp1 HG00735.hp1 HG00738.hp2 others(10): Show |
intron_variant | MODIFIER | c.8071-301C>T | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 55/55 | chr2 | 203216952 | ||||||
| chr2:203216953
|
G | A | 1 | a0001c0001t0001g0011 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.8071-300G>A | NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 55/55 | chr2 | 203216953 |