| geneid | 343450 |
|---|---|
| ensemblid | ENSG00000162687.19 |
| hgncid | 18866 |
| symbol | KCNT2 |
| name | potassium sodium-activated channel subfamily T member 2 |
| refseq_nuc | NM_198503.5 |
| refseq_prot | NP_940905.2 |
| ensembl_nuc | ENST00000294725.14 |
| ensembl_prot | ENSP00000294725.8 |
| mane_status | MANE Select |
| chr | chr1 |
| start | 196225779 |
| end | 196608440 |
| strand | - |
| ver | v1.2 |
| region | chr1:196225779-196608440 |
| region5000 | chr1:196220779-196613440 |
| regionname0 | KCNT2_chr1_196225779_196608440 |
| regionname5000 | KCNT2_chr1_196220779_196613440 |
| ahapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 1135 | 135 | 74 | 30 | 14 | 4 | 11 | 10 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| a0002 | 0/0 | 1135 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| chapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 0/1 | 3408 | 114 | 57 | 29 | 13 | 3 | 11 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| c0002 | 0/0 | 3408 | 6 | 6 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| c0003 | 1/0 | 3408 | 6 | 5 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| c0004 | 0/0 | 3408 | 3 | 0 | 1 | 1 | 1 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| c0005 | 0/0 | 3408 | 3 | 3 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| c0006 | 0/0 | 3408 | 2 | 2 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| c0007 | 0/0 | 3408 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| c0008 | 0/0 | 3408 | 1 | 0 | 0 | 0 | 0 | 1 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| thapid | grch38chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 1/1 | 2577 | 100 | 59 | 19 | 10 | 3 | 7 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| t0002 | 0/0 | 2577 | 20 | 5 | 9 | 2 | 0 | 4 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| t0003 | 0/0 | 2577 | 5 | 5 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| t0004 | 0/0 | 2577 | 3 | 0 | 1 | 1 | 1 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| t0005 | 0/0 | 2577 | 2 | 2 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| t0006 | 0/0 | 2577 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| t0007 | 0/0 | 2577 | 1 | 0 | 0 | 0 | 0 | 1 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| t0008 | 0/0 | 2577 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| t0009 | 0/0 | 2577 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| t0010 | 0/0 | 2577 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| t0011 | 0/0 | 2577 | 1 | 0 | 0 | 1 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| 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 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0006 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0020 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0021 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0023 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0026 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0033 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0034 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0040 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0041 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0043 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0044 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0045 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0050 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0052 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0058 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0069 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0070 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0073 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0080 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0096 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0110 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0113 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0114 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0117 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0118 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0119 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0132 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0134 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0135 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| g0136 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| achapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/1 | 3408 | 114 | 57 | 29 | 13 | 3 | 11 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| a0001c0002 | 0/0 | 3408 | 6 | 6 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| a0001c0003 | 1/0 | 3408 | 6 | 5 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| a0001c0004 | 0/0 | 3408 | 3 | 0 | 1 | 1 | 1 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| a0001c0005 | 0/0 | 3408 | 3 | 3 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| a0001c0006 | 0/0 | 3408 | 2 | 2 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| a0001c0007 | 0/0 | 3408 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| a0002c0008 | 0/0 | 3408 | 1 | 0 | 0 | 0 | 0 | 1 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/1 | 5984 | 82 | 43 | 19 | 10 | 3 | 6 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| a0001c0001t0002 | 0/0 | 5984 | 20 | 5 | 9 | 2 | 0 | 4 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| a0001c0001t0003 | 0/0 | 5984 | 5 | 5 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| a0001c0001t0005 | 0/0 | 5984 | 2 | 2 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| a0001c0001t0006 | 0/0 | 5984 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| a0001c0001t0007 | 0/0 | 5984 | 1 | 0 | 0 | 0 | 0 | 1 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| a0001c0001t0009 | 0/0 | 5984 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| a0001c0001t0010 | 0/0 | 5984 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| a0001c0001t0011 | 0/0 | 5984 | 1 | 0 | 0 | 1 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| a0001c0002t0001 | 0/0 | 5984 | 6 | 6 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| a0001c0003t0001 | 1/0 | 5984 | 5 | 4 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| a0001c0003t0008 | 0/0 | 5984 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| a0001c0004t0004 | 0/0 | 5984 | 3 | 0 | 1 | 1 | 1 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| a0001c0005t0001 | 0/0 | 5984 | 3 | 3 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| a0001c0006t0001 | 0/0 | 5984 | 2 | 2 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| a0001c0007t0001 | 0/0 | 5984 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| a0002c0008t0001 | 0/0 | 5984 | 1 | 0 | 0 | 0 | 0 | 1 | KCNT2_chr1_196220779_196613440 | KCNT2 | copy fasta | chr1 | 196220779 | 196613440 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0006 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0021 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0023 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0040 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0041 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0043 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0044 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0045 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0052 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0058 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0069 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0070 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0073 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0080 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0096 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0134 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0135 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0001g0136 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0002g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0002g0026 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0002g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0002g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0002g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0002g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0002g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0002g0033 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0002g0034 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0002g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0002g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0002g0050 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0002g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0002g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0002g0113 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0002g0114 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0002g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0002g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0002g0117 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0002g0118 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0003g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0003g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0003g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0003g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0003g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0005g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0005g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0006g0001 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0007g0119 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0009g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0010g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0001t0011g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0002t0001g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0002t0001g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0002t0001g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0002t0001g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0002t0001g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0002t0001g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0003t0001g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0003t0001g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0003t0001g0110 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0003t0001g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0003t0001g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0003t0008g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0004t0004g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0004t0004g0132 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0004t0004g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0005t0001g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0005t0001g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0005t0001g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0006t0001g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0006t0001g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0001c0007t0001g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| a0002c0008t0001g0020 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00140 | hp1 | a0001 | c0001 | t0001 | g0058 | EUR | GBR | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG00140 | hp2 | a0001 | c0001 | t0001 | g0021 | EUR | GBR | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG00323 | hp1 | a0001 | c0004 | t0004 | g0132 | EUR | FIN | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG00323 | hp2 | a0001 | c0001 | t0001 | g0069 | EUR | FIN | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG00639 | hp1 | a0001 | c0001 | t0002 | g0049 | AMR | PUR | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG00639 | hp2 | a0001 | c0001 | t0001 | g0017 | AMR | PUR | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG00673 | hp1 | a0001 | c0001 | t0001 | g0072 | EAS | CHS | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG00673 | hp2 | a0001 | c0001 | t0001 | g0005 | EAS | CHS | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG00735 | hp1 | a0001 | c0001 | t0001 | g0055 | AMR | PUR | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG00735 | hp2 | a0001 | c0001 | t0002 | g0033 | AMR | PUR | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG00741 | hp1 | a0001 | c0001 | t0002 | g0031 | AMR | PUR | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG00741 | hp2 | a0001 | c0001 | t0001 | g0063 | AMR | PUR | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG01074 | hp1 | a0001 | c0001 | t0002 | g0050 | AMR | PUR | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG01074 | hp2 | a0001 | c0001 | t0001 | g0019 | AMR | PUR | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG01081 | hp1 | a0001 | c0001 | t0001 | g0135 | AMR | PUR | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG01081 | hp2 | a0001 | c0004 | t0004 | g0133 | AMR | PUR | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG01106 | hp1 | a0001 | c0001 | t0001 | g0043 | AMR | PUR | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG01106 | hp2 | a0001 | c0001 | t0002 | g0007 | AMR | PUR | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG01109 | hp1 | a0001 | c0001 | t0001 | g0044 | AMR | PUR | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG01109 | hp2 | a0001 | c0001 | t0001 | g0096 | AMR | PUR | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG01168 | hp1 | a0001 | c0001 | t0002 | g0030 | AMR | PUR | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG01168 | hp2 | a0001 | c0001 | t0001 | g0064 | AMR | PUR | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG01175 | hp1 | a0001 | c0001 | t0002 | g0026 | AMR | PUR | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG01175 | hp2 | a0001 | c0001 | t0001 | g0053 | AMR | PUR | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG01261 | hp1 | a0001 | c0001 | t0001 | g0071 | AMR | CLM | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG01261 | hp2 | a0001 | c0001 | t0006 | g0001 | AMR | CLM | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG01346 | hp1 | a0001 | c0001 | t0002 | g0034 | AMR | CLM | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG01346 | hp2 | a0001 | c0001 | t0001 | g0047 | AMR | CLM | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG01358 | hp1 | a0001 | c0001 | t0001 | g0068 | AMR | CLM | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG01358 | hp2 | a0001 | c0001 | t0001 | g0025 | AMR | CLM | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG01496 | hp1 | a0001 | c0001 | t0001 | g0134 | AMR | CLM | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG01496 | hp2 | a0001 | c0001 | t0001 | g0054 | AMR | CLM | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG01891 | hp1 | a0001 | c0003 | t0008 | g0081 | AFR | ACB | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG01891 | hp2 | a0001 | c0001 | t0001 | g0065 | AFR | ACB | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG01981 | hp1 | a0001 | c0001 | t0001 | g0136 | AMR | PEL | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG01981 | hp2 | a0001 | c0001 | t0001 | g0052 | AMR | PEL | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG02145 | hp1 | a0001 | c0002 | t0001 | g0121 | AFR | ACB | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG02145 | hp2 | a0001 | c0001 | t0003 | g0104 | AFR | ACB | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG02165 | hp1 | a0001 | c0001 | t0011 | g0066 | EAS | CDX | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG02165 | hp2 | a0001 | c0004 | t0004 | g0002 | EAS | CDX | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG02257 | hp1 | a0001 | c0005 | t0001 | g0016 | AFR | ACB | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG02257 | hp2 | a0001 | c0001 | t0001 | g0057 | AFR | ACB | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG02258 | hp1 | a0001 | c0001 | t0001 | g0090 | AFR | ACB | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG02258 | hp2 | a0001 | c0001 | t0002 | g0115 | AFR | ACB | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG02280 | hp1 | a0001 | c0007 | t0001 | g0091 | AFR | ACB | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG02280 | hp2 | a0001 | c0003 | t0001 | g0109 | AFR | ACB | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG02293 | hp1 | a0001 | c0001 | t0002 | g0032 | AMR | PEL | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG02293 | hp2 | a0001 | c0001 | t0001 | g0080 | AMR | PEL | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG02451 | hp1 | a0001 | c0001 | t0003 | g0035 | AFR | ACB | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG02451 | hp2 | a0001 | c0006 | t0001 | g0061 | AFR | ACB | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG02572 | hp1 | a0001 | c0001 | t0010 | g0097 | AFR | GWD | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG02572 | hp2 | a0001 | c0006 | t0001 | g0067 | AFR | GWD | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG02622 | hp1 | a0001 | c0002 | t0001 | g0123 | AFR | GWD | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG02622 | hp2 | a0001 | c0001 | t0001 | g0083 | AFR | GWD | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG02630 | hp1 | a0001 | c0005 | t0001 | g0015 | AFR | GWD | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG02630 | hp2 | a0001 | c0001 | t0001 | g0056 | AFR | GWD | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG02647 | hp1 | a0001 | c0001 | t0002 | g0116 | AFR | GWD | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG02647 | hp2 | a0001 | c0001 | t0001 | g0129 | AFR | GWD | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG02717 | hp1 | a0001 | c0001 | t0001 | g0012 | AFR | GWD | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG02717 | hp2 | a0001 | c0001 | t0001 | g0003 | AFR | GWD | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG02723 | hp1 | a0001 | c0001 | t0003 | g0103 | AFR | GWD | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG02723 | hp2 | a0001 | c0001 | t0001 | g0088 | AFR | GWD | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG02809 | hp1 | a0001 | c0001 | t0001 | g0127 | AFR | GWD | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG02809 | hp2 | a0001 | c0001 | t0002 | g0076 | AFR | GWD | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG02818 | hp1 | a0001 | c0001 | t0001 | g0101 | AFR | GWD | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG02818 | hp2 | a0001 | c0001 | t0001 | g0093 | AFR | GWD | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG02886 | hp1 | a0001 | c0001 | t0001 | g0011 | AFR | GWD | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG02886 | hp2 | a0001 | c0001 | t0002 | g0048 | AFR | GWD | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG02895 | hp1 | a0001 | c0001 | t0001 | g0128 | AFR | GWD | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG02895 | hp2 | a0001 | c0001 | t0001 | g0008 | AFR | GWD | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG02897 | hp1 | a0001 | c0001 | t0001 | g0009 | AFR | GWD | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG02897 | hp2 | a0001 | c0001 | t0001 | g0092 | AFR | GWD | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG02965 | hp1 | a0001 | c0001 | t0001 | g0079 | AFR | ESN | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG02965 | hp2 | a0001 | c0005 | t0001 | g0014 | AFR | ESN | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG03041 | hp1 | a0001 | c0001 | t0001 | g0120 | AFR | GWD | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG03041 | hp2 | a0001 | c0001 | t0001 | g0084 | AFR | GWD | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG03130 | hp1 | a0001 | c0001 | t0003 | g0082 | AFR | ESN | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG03130 | hp2 | a0001 | c0001 | t0005 | g0106 | AFR | ESN | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG03139 | hp1 | a0001 | c0002 | t0001 | g0126 | AFR | ESN | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG03139 | hp2 | a0001 | c0001 | t0001 | g0004 | AFR | ESN | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG03209 | hp1 | a0001 | c0002 | t0001 | g0122 | AFR | MSL | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG03209 | hp2 | a0001 | c0001 | t0001 | g0086 | AFR | MSL | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG03225 | hp1 | a0001 | c0001 | t0001 | g0085 | AFR | MSL | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG03225 | hp2 | a0001 | c0001 | t0009 | g0038 | AFR | MSL | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG03486 | hp1 | a0001 | c0001 | t0001 | g0130 | AFR | MSL | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG03486 | hp2 | a0001 | c0001 | t0001 | g0039 | AFR | MSL | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG03492 | hp1 | a0001 | c0001 | t0001 | g0023 | SAS | PJL | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG03492 | hp2 | a0001 | c0001 | t0001 | g0045 | SAS | PJL | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG03516 | hp1 | a0001 | c0001 | t0001 | g0095 | AFR | ESN | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG03516 | hp2 | a0001 | c0001 | t0001 | g0046 | AFR | ESN | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG03540 | hp1 | a0001 | c0001 | t0001 | g0077 | AFR | GWD | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG03540 | hp2 | a0001 | c0001 | t0001 | g0010 | AFR | GWD | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG03579 | hp1 | a0001 | c0001 | t0001 | g0087 | AFR | MSL | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG03579 | hp2 | a0001 | c0001 | t0001 | g0099 | AFR | MSL | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG03669 | hp1 | a0001 | c0001 | t0007 | g0119 | SAS | PJL | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG03669 | hp2 | a0001 | c0001 | t0001 | g0041 | SAS | PJL | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG03834 | hp1 | a0001 | c0001 | t0001 | g0006 | SAS | BEB | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG03834 | hp2 | a0001 | c0001 | t0002 | g0117 | SAS | BEB | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG04115 | hp1 | a0001 | c0001 | t0002 | g0113 | SAS | STU | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG04115 | hp2 | a0001 | c0001 | t0001 | g0070 | SAS | STU | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG04199 | hp1 | a0001 | c0001 | t0002 | g0118 | SAS | STU | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG04199 | hp2 | a0002 | c0008 | t0001 | g0020 | SAS | STU | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG04228 | hp1 | a0001 | c0001 | t0002 | g0114 | SAS | STU | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG04228 | hp2 | a0001 | c0001 | t0001 | g0073 | SAS | STU | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| NA18522 | hp1 | a0001 | c0002 | t0001 | g0125 | AFR | YRI | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| NA18522 | hp2 | a0001 | c0003 | t0001 | g0112 | AFR | YRI | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| NA18906 | hp1 | a0001 | c0001 | t0005 | g0100 | AFR | YRI | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| NA18906 | hp2 | a0001 | c0001 | t0001 | g0036 | AFR | YRI | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| NA18984 | hp1 | a0001 | c0001 | t0001 | g0027 | EAS | JPT | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| NA18984 | hp2 | a0001 | c0001 | t0001 | g0078 | EAS | JPT | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| NA18988 | hp1 | a0001 | c0001 | t0001 | g0060 | EAS | JPT | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| NA18988 | hp2 | a0001 | c0001 | t0001 | g0022 | EAS | JPT | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| NA18990 | hp1 | a0001 | c0001 | t0001 | g0024 | EAS | JPT | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| NA18990 | hp2 | a0001 | c0001 | t0001 | g0074 | EAS | JPT | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| NA19009 | hp1 | a0001 | c0001 | t0001 | g0059 | EAS | JPT | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| NA19009 | hp2 | a0001 | c0001 | t0002 | g0028 | EAS | JPT | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| NA19030 | hp1 | a0001 | c0001 | t0001 | g0105 | AFR | LWK | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| NA19030 | hp2 | a0001 | c0003 | t0001 | g0108 | AFR | LWK | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| NA19062 | hp1 | a0001 | c0001 | t0001 | g0042 | EAS | JPT | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| NA19062 | hp2 | a0001 | c0001 | t0002 | g0029 | EAS | JPT | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| NA19240 | hp1 | a0001 | c0001 | t0001 | g0094 | AFR | YRI | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| NA19240 | hp2 | a0001 | c0003 | t0001 | g0111 | AFR | YRI | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| NA20129 | hp1 | a0001 | c0001 | t0003 | g0089 | AFR | ASW | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| NA20129 | hp2 | a0001 | c0001 | t0002 | g0051 | AFR | ASW | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG02109 | hp1 | a0001 | c0002 | t0001 | g0124 | AFR | ACB | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG02109 | hp2 | a0001 | c0001 | t0001 | g0037 | AFR | ACB | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG03471 | hp1 | a0001 | c0001 | t0001 | g0075 | AFR | MSL | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG03471 | hp2 | a0001 | c0001 | t0001 | g0098 | AFR | MSL | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG06807 | hp1 | a0001 | c0001 | t0001 | g0062 | AFR | USA | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| HG06807 | hp2 | a0001 | c0001 | t0001 | g0107 | AFR | USA | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| NA20300 | hp1 | a0001 | c0001 | t0001 | g0018 | AFR | USA | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| NA20300 | hp2 | a0001 | c0001 | t0001 | g0131 | AFR | USA | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| NA21309 | hp1 | a0001 | c0001 | t0001 | g0013 | AFR | LWK | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| NA21309 | hp2 | a0001 | c0001 | t0001 | g0102 | AFR | LWK | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0001 | g0040 | REF | REF | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| homoSapiens_grch38 | hp1 | a0001 | c0003 | t0001 | g0110 | REF | REF | KCNT2_chr1_196220779_196613440 | KCNT2 | chr1 | 196220779 | 196613440 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:196333925
|
G | A | 1 | a0002 | 1 | HG04199.hp2 | missense_variant | MODERATE | c.1919C>T | p.Ser640Leu | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 17/28 | 2050/5984 | 1919/3408 | 640/1135 | chr1 | 196333925 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:196258396
|
A | G | 7 | a0001c0001a0001c0002a0001c0004others(4): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
synonymous_variant | LOW | c.3009T>C | p.Asp1003Asp | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/28 | 3140/5984 | 3009/3408 | 1003/1135 | chr1 | 196258396 | ||
| chr1:196319516
|
T | G | 1 | a0001c0006 | 2 | HG02451.hp2 HG02572.hp2 |
synonymous_variant | LOW | c.2316A>C | p.Pro772Pro | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 20/28 | 2447/5984 | 2316/3408 | 772/1135 | chr1 | 196319516 | ||
| chr1:196326727
|
A | G | 1 | a0001c0007 | 1 | HG02280.hp1 | synonymous_variant | LOW | c.2266T>C | p.Leu756Leu | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/28 | 2397/5984 | 2266/3408 | 756/1135 | chr1 | 196326727 | ||
| chr1:196333987
|
C | T | 1 | a0001c0002 | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
synonymous_variant | LOW | c.1857G>A | p.Glu619Glu | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 17/28 | 1988/5984 | 1857/3408 | 619/1135 | chr1 | 196333987 | ||
| chr1:196340393
|
C | T | 1 | a0001c0004 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
synonymous_variant | LOW | c.1731G>A | p.Ser577Ser | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/28 | 1862/5984 | 1731/3408 | 577/1135 | chr1 | 196340393 | ||
| chr1:196489903
|
T | C | 1 | a0001c0005 | 3 | HG02257.hp1 HG02630.hp1 HG02965.hp2 |
synonymous_variant | LOW | c.210A>G | p.Lys70Lys | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/28 | 341/5984 | 210/3408 | 70/1135 | chr1 | 196489903 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:196225870
|
C | T | 1 | a0001c0001t0011 | 1 | HG02165.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2354G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 28/28 | 2354 | chr1 | 196225870 | |||||
| chr1:196226072
|
A | T | 1 | a0001c0001t0011 | 1 | HG02165.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2152T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 28/28 | 2152 | chr1 | 196226072 | |||||
| chr1:196226880
|
T | A | 1 | a0001c0001t0003 | 5 | HG02145.hp2 HG02451.hp1 HG02723.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*1344A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 28/28 | 1344 | chr1 | 196226880 | |||||
| chr1:196226973
|
A | G | 1 | a0001c0001t0010 | 1 | HG02572.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1251T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 28/28 | 1251 | chr1 | 196226973 | |||||
| chr1:196227262
|
A | G | 1 | a0001c0001t0007 | 1 | HG03669.hp1 | 3_prime_UTR_variant | MODIFIER | c.*962T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 28/28 | 962 | chr1 | 196227262 | |||||
| chr1:196227331
|
A | G | 1 | a0001c0001t0005 | 2 | HG03130.hp2 NA18906.hp1 |
3_prime_UTR_variant | MODIFIER | c.*893T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 28/28 | 893 | chr1 | 196227331 | |||||
| chr1:196227370
|
A | G | 1 | a0001c0001t0009 | 1 | HG03225.hp2 | 3_prime_UTR_variant | MODIFIER | c.*854T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 28/28 | 854 | chr1 | 196227370 | |||||
| chr1:196227600
|
A | G | 1 | a0001c0004t0004 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
3_prime_UTR_variant | MODIFIER | c.*624T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 28/28 | 624 | chr1 | 196227600 | |||||
| chr1:196227765
|
A | G | 1 | a0001c0003t0008 | 1 | HG01891.hp1 | 3_prime_UTR_variant | MODIFIER | c.*459T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 28/28 | 459 | chr1 | 196227765 | |||||
| chr1:196228144
|
C | G | 2 | a0001c0001t0002a0001c0001t0007 | 21 | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(18): Show |
3_prime_UTR_variant | MODIFIER | c.*80G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 28/28 | 80 | chr1 | 196228144 | |||||
| chr1:196608415
|
C | G | 1 | a0001c0001t0006 | 1 | HG01261.hp2 | 5_prime_UTR_variant | MODIFIER | c.-106G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/28 | 106 | chr1 | 196608415 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:196228421
|
A | G | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.3297-86T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 27/27 | chr1 | 196228421 | ||||||
| chr1:196228525
|
T | C | 2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.3297-190A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 27/27 | chr1 | 196228525 | ||||||
| chr1:196228812
|
G | A | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.3297-477C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 27/27 | chr1 | 196228812 | ||||||
| chr1:196229378
|
A | G | 1 | a0001c0001t0001g0064 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.3297-1043T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 27/27 | chr1 | 196229378 | ||||||
| chr1:196229529
|
T | C | 16 | a0001c0001t0003g0035a0001c0001t0003g0082a0001c0001t0003g0089others(13): Show | 16 | HG00323.hp1 HG01081.hp2 HG02109.hp1 others(13): Show |
intron_variant | MODIFIER | c.3297-1194A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 27/27 | chr1 | 196229529 | ||||||
| chr1:196230001
|
A | G | 4 | a0001c0001t0003g0035a0001c0001t0003g0089a0001c0001t0003g0103others(1): Show | 4 | HG02145.hp2 HG02451.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.3297-1666T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 27/27 | chr1 | 196230001 | ||||||
| chr1:196230087
|
C | T | 5 | a0001c0001t0003g0035a0001c0001t0003g0082a0001c0001t0003g0089others(2): Show | 5 | HG02145.hp2 HG02451.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.3297-1752G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 27/27 | chr1 | 196230087 | ||||||
| chr1:196230304
|
A | C | 1 | a0001c0001t0001g0086 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.3297-1969T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 27/27 | chr1 | 196230304 | ||||||
| chr1:196230326
|
C | G | 4 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(1): Show | 4 | HG02622.hp2 HG02965.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.3297-1991G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 27/27 | chr1 | 196230326 | ||||||
| chr1:196230603
|
AC | A | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.3297-2269delG | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 27/27 | chr1 | 196230603 | ||||||
| chr1:196230802
|
C | T | 1 | a0001c0001t0003g0082 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.3297-2467G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 27/27 | chr1 | 196230802 | ||||||
| chr1:196230935
|
G | A | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.3297-2600C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 27/27 | chr1 | 196230935 | ||||||
| chr1:196231005
|
C | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.3297-2670G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 27/27 | chr1 | 196231005 | ||||||
| chr1:196231168
|
T | C | 1 | a0001c0001t0001g0055 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.3297-2833A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 27/27 | chr1 | 196231168 | ||||||
| chr1:196231215
|
A | G | 1 | a0001c0001t0001g0069 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.3297-2880T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 27/27 | chr1 | 196231215 | ||||||
| chr1:196231388
|
T | C | 1 | a0001c0001t0001g0044 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.3297-3053A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 27/27 | chr1 | 196231388 | ||||||
| chr1:196231484
|
A | T | 1 | a0001c0001t0001g0010 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.3297-3149T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 27/27 | chr1 | 196231484 | ||||||
| chr1:196231584
|
T | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.3297-3249A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 27/27 | chr1 | 196231584 | ||||||
| chr1:196231740
|
A | T | 21 | a0001c0001t0002g0007a0001c0001t0002g0026a0001c0001t0002g0028others(18): Show | 21 | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(18): Show |
intron_variant | MODIFIER | c.3297-3405T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 27/27 | chr1 | 196231740 | ||||||
| chr1:196231888
|
C | T | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.3297-3553G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 27/27 | chr1 | 196231888 | ||||||
| chr1:196231943
|
A | G | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.3297-3608T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 27/27 | chr1 | 196231943 | ||||||
| chr1:196232254
|
A | G | 1 | a0001c0007t0001g0091 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.3296+3732T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 27/27 | chr1 | 196232254 | ||||||
| chr1:196232281
|
G | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.3296+3705C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 27/27 | chr1 | 196232281 | ||||||
| chr1:196233009
|
T | C | 2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.3296+2977A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 27/27 | chr1 | 196233009 | ||||||
| chr1:196233059
|
G | T | 4 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(1): Show | 4 | HG02717.hp2 HG02895.hp2 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.3296+2927C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 27/27 | chr1 | 196233059 | ||||||
| chr1:196233450
|
C | T | 1 | a0001c0001t0001g0046 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.3296+2536G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 27/27 | chr1 | 196233450 | ||||||
| chr1:196233525
|
C | T | 1 | a0001c0001t0001g0101 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.3296+2461G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 27/27 | chr1 | 196233525 | ||||||
| chr1:196234106
|
C | T | 5 | a0001c0001t0003g0035a0001c0001t0003g0082a0001c0001t0003g0089others(2): Show | 5 | HG02145.hp2 HG02451.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.3296+1880G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 27/27 | chr1 | 196234106 | ||||||
| chr1:196234333
|
G | A | 2 | a0001c0001t0001g0027a0001c0001t0001g0072 | 2 | HG00673.hp1 NA18984.hp1 |
intron_variant | MODIFIER | c.3296+1653C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 27/27 | chr1 | 196234333 | ||||||
| chr1:196234564
|
A | C | 21 | a0001c0001t0002g0007a0001c0001t0002g0026a0001c0001t0002g0028others(18): Show | 21 | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(18): Show |
intron_variant | MODIFIER | c.3296+1422T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 27/27 | chr1 | 196234564 | ||||||
| chr1:196234812
|
C | T | 8 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(5): Show | 8 | HG02257.hp1 HG02630.hp1 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.3296+1174G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 27/27 | chr1 | 196234812 | ||||||
| chr1:196235424
|
A | C | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.3296+562T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 27/27 | chr1 | 196235424 | ||||||
| chr1:196235627
|
C | T | 128 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(125): Show | 128 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(125): Show |
intron_variant | MODIFIER | c.3296+359G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 27/27 | chr1 | 196235627 | ||||||
| chr1:196235782
|
T | C | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.3296+204A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 27/27 | chr1 | 196235782 | ||||||
| chr1:196235864
|
G | A | 5 | a0001c0001t0003g0035a0001c0001t0003g0082a0001c0001t0003g0089others(2): Show | 5 | HG02145.hp2 HG02451.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.3296+122C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 27/27 | chr1 | 196235864 | ||||||
| chr1:196236079
|
T | A | 1 | a0001c0001t0001g0077 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.3212-9A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196236079 | ||||||
| chr1:196236155
|
T | C | 2 | a0001c0001t0001g0039a0001c0001t0009g0038 | 2 | HG03225.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.3212-85A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196236155 | ||||||
| chr1:196236434
|
G | T | 3 | a0001c0001t0002g0049a0001c0001t0002g0050a0001c0001t0002g0051 | 3 | HG00639.hp1 HG01074.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.3212-364C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196236434 | ||||||
| chr1:196236454
|
A | C | 2 | a0001c0001t0001g0056a0001c0001t0001g0077 | 2 | HG02630.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.3212-384T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196236454 | ||||||
| chr1:196236935
|
GTTTT | G | 5 | a0001c0001t0003g0035a0001c0001t0003g0082a0001c0001t0003g0089others(2): Show | 5 | HG02145.hp2 HG02451.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.3212-869_3212-866d others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196236935 | ||||||
| chr1:196236940
|
C | A | 5 | a0001c0001t0003g0035a0001c0001t0003g0082a0001c0001t0003g0089others(2): Show | 5 | HG02145.hp2 HG02451.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.3212-870G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196236940 | ||||||
| chr1:196236942
|
G | T | 5 | a0001c0001t0003g0035a0001c0001t0003g0082a0001c0001t0003g0089others(2): Show | 5 | HG02145.hp2 HG02451.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.3212-872C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196236942 | ||||||
| chr1:196237042
|
C | T | 1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.3212-972G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196237042 | ||||||
| chr1:196237078
|
AGTCTAAG others(4): Show |
A | 5 | a0001c0001t0003g0035a0001c0001t0003g0082a0001c0001t0003g0089others(2): Show | 5 | HG02145.hp2 HG02451.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.3212-1019_3212-100 others(15): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196237078 | ||||||
| chr1:196237472
|
T | C | 3 | a0001c0001t0002g0049a0001c0001t0002g0050a0001c0001t0002g0051 | 3 | HG00639.hp1 HG01074.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.3212-1402A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196237472 | ||||||
| chr1:196237492
|
G | C | 1 | a0001c0001t0001g0065 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.3212-1422C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196237492 | ||||||
| chr1:196237850
|
G | A | 2 | a0001c0001t0001g0039a0001c0001t0009g0038 | 2 | HG03225.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.3212-1780C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196237850 | ||||||
| chr1:196237917
|
G | A | 1 | a0001c0001t0001g0024 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.3212-1847C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196237917 | ||||||
| chr1:196238056
|
T | C | 5 | a0001c0001t0003g0035a0001c0001t0003g0082a0001c0001t0003g0089others(2): Show | 5 | HG02145.hp2 HG02451.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.3212-1986A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196238056 | ||||||
| chr1:196238061
|
A | G | 2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.3212-1991T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196238061 | ||||||
| chr1:196238300
|
G | T | 1 | a0001c0001t0001g0006 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.3212-2230C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196238300 | ||||||
| chr1:196238508
|
C | T | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.3212-2438G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196238508 | ||||||
| chr1:196238748
|
C | T | 1 | a0001c0003t0001g0111 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.3212-2678G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196238748 | ||||||
| chr1:196238763
|
C | T | 1 | a0001c0001t0001g0041 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.3212-2693G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196238763 | ||||||
| chr1:196238832
|
A | C | 1 | a0001c0001t0003g0082 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.3212-2762T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196238832 | ||||||
| chr1:196239115
|
T | C | 1 | a0001c0001t0001g0042 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.3212-3045A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196239115 | ||||||
| chr1:196239257
|
A | G | 5 | a0001c0001t0003g0035a0001c0001t0003g0082a0001c0001t0003g0089others(2): Show | 5 | HG02145.hp2 HG02451.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.3212-3187T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196239257 | ||||||
| chr1:196239462
|
A | G | 1 | a0001c0005t0001g0015 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.3212-3392T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196239462 | ||||||
| chr1:196239513
|
C | T | 1 | a0001c0003t0008g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.3212-3443G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196239513 | ||||||
| chr1:196239545
|
T | C | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.3212-3475A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196239545 | ||||||
| chr1:196239728
|
TTC | T | 3 | a0001c0001t0001g0024a0001c0001t0001g0052a0001c0001t0001g0134 | 3 | HG01496.hp1 HG01981.hp2 NA18990.hp1 |
intron_variant | MODIFIER | c.3212-3660_3212-365 others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196239728 | ||||||
| chr1:196239760
|
C | T | 15 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(12): Show | 15 | HG01109.hp2 HG01261.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.3212-3690G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196239760 | ||||||
| chr1:196239864
|
C | T | 5 | a0001c0001t0002g0048a0001c0001t0002g0049a0001c0001t0002g0050others(2): Show | 5 | HG00639.hp1 HG01074.hp1 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.3212-3794G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196239864 | ||||||
| chr1:196239915
|
A | T | 9 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(6): Show | 9 | HG02257.hp1 HG02630.hp1 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.3212-3845T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196239915 | ||||||
| chr1:196239950
|
G | T | 1 | a0001c0001t0001g0090 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.3212-3880C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196239950 | ||||||
| chr1:196240312
|
G | A | 5 | a0001c0001t0003g0035a0001c0001t0003g0082a0001c0001t0003g0089others(2): Show | 5 | HG02145.hp2 HG02451.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.3212-4242C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196240312 | ||||||
| chr1:196240456
|
T | TTGCTATC others(23): Show |
1 | a0001c0001t0001g0037 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.3212-4387_3212-438 others(34): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196240456 | ||||||
| chr1:196240519
|
G | A | 97 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(94): Show | 97 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(94): Show |
intron_variant | MODIFIER | c.3212-4449C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196240519 | ||||||
| chr1:196240815
|
G | T | 23 | a0001c0001t0001g0022a0001c0001t0001g0027a0001c0001t0001g0040others(20): Show | 23 | HG00140.hp1 HG00323.hp2 HG00673.hp1 others(20): Show |
intron_variant | MODIFIER | c.3212-4745C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196240815 | ||||||
| chr1:196240957
|
A | C | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.3212-4887T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196240957 | ||||||
| chr1:196241061
|
G | A | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.3212-4991C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196241061 | ||||||
| chr1:196241187
|
T | G | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.3212-5117A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196241187 | ||||||
| chr1:196241188
|
G | GTTTTGT | 21 | a0001c0001t0002g0007a0001c0001t0002g0026a0001c0001t0002g0028others(18): Show | 21 | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(18): Show |
intron_variant | MODIFIER | c.3212-5124_3212-511 others(10): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196241188 | ||||||
| chr1:196241188
|
G | T | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.3212-5118C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196241188 | ||||||
| chr1:196241251
|
C | G | 1 | a0001c0001t0001g0062 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.3212-5181G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196241251 | ||||||
| chr1:196241288
|
T | A | 1 | a0001c0001t0001g0040 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.3212-5218A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196241288 | ||||||
| chr1:196241782
|
A | G | 1 | a0001c0001t0002g0032 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.3212-5712T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196241782 | ||||||
| chr1:196241787
|
C | T | 7 | a0001c0001t0001g0036a0001c0001t0001g0086a0001c0001t0001g0087others(4): Show | 7 | HG02258.hp1 HG02723.hp2 HG03209.hp2 others(4): Show |
intron_variant | MODIFIER | c.3212-5717G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196241787 | ||||||
| chr1:196241843
|
C | T | 1 | a0001c0001t0001g0064 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.3212-5773G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196241843 | ||||||
| chr1:196241893
|
C | T | 1 | a0001c0001t0003g0035 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.3212-5823G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196241893 | ||||||
| chr1:196242194
|
G | T | 5 | a0001c0001t0003g0035a0001c0001t0003g0082a0001c0001t0003g0089others(2): Show | 5 | HG02145.hp2 HG02451.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.3212-6124C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196242194 | ||||||
| chr1:196242535
|
C | A | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.3212-6465G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196242535 | ||||||
| chr1:196242895
|
C | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.3212-6825G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196242895 | ||||||
| chr1:196243147
|
A | G | 64 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0017others(61): Show | 64 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(61): Show |
intron_variant | MODIFIER | c.3212-7077T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196243147 | ||||||
| chr1:196243226
|
C | A | 1 | a0001c0001t0001g0013 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.3212-7156G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196243226 | ||||||
| chr1:196243459
|
A | T | 1 | a0001c0007t0001g0091 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.3212-7389T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196243459 | ||||||
| chr1:196243651
|
T | C | 15 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(12): Show | 15 | HG01109.hp2 HG02572.hp1 HG02717.hp1 others(12): Show |
intron_variant | MODIFIER | c.3212-7581A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196243651 | ||||||
| chr1:196243907
|
C | T | 1 | a0001c0001t0001g0013 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.3212-7837G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196243907 | ||||||
| chr1:196243957
|
C | T | 1 | a0001c0001t0003g0089 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.3212-7887G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196243957 | ||||||
| chr1:196244193
|
C | T | 3 | a0001c0001t0003g0089a0001c0001t0003g0103a0001c0001t0003g0104 | 3 | HG02145.hp2 HG02723.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.3212-8123G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196244193 | ||||||
| chr1:196244406
|
A | G | 3 | a0001c0001t0001g0043a0001c0001t0001g0054a0001c0001t0001g0070 | 3 | HG01106.hp1 HG01496.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.3212-8336T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196244406 | ||||||
| chr1:196244437
|
C | G | 64 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0017others(61): Show | 64 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(61): Show |
intron_variant | MODIFIER | c.3212-8367G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196244437 | ||||||
| chr1:196244460
|
G | A | 8 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(5): Show | 8 | HG02257.hp1 HG02630.hp1 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.3212-8390C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196244460 | ||||||
| chr1:196244488
|
C | T | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.3212-8418G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196244488 | ||||||
| chr1:196244555
|
G | T | 8 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(5): Show | 8 | HG02257.hp1 HG02630.hp1 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.3212-8485C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196244555 | ||||||
| chr1:196244627
|
G | A | 9 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(6): Show | 9 | HG02257.hp1 HG02630.hp1 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.3212-8557C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196244627 | ||||||
| chr1:196244824
|
G | T | 2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.3212-8754C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196244824 | ||||||
| chr1:196244982
|
G | A | 1 | a0001c0001t0001g0094 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.3212-8912C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196244982 | ||||||
| chr1:196245173
|
G | A | 1 | a0001c0001t0001g0071 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.3212-9103C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196245173 | ||||||
| chr1:196245256
|
C | T | 2 | a0001c0001t0001g0056a0001c0001t0001g0077 | 2 | HG02630.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.3212-9186G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196245256 | ||||||
| chr1:196245280
|
C | T | 1 | a0001c0001t0001g0086 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.3212-9210G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196245280 | ||||||
| chr1:196245383
|
G | T | 1 | a0001c0001t0001g0013 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.3212-9313C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196245383 | ||||||
| chr1:196245532
|
C | T | 3 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012 | 3 | HG02717.hp1 HG02886.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.3212-9462G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196245532 | ||||||
| chr1:196245627
|
G | A | 2 | a0001c0005t0001g0014a0001c0005t0001g0016 | 2 | HG02257.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.3212-9557C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196245627 | ||||||
| chr1:196245654
|
A | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.3212-9584T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196245654 | ||||||
| chr1:196245770
|
A | G | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.3212-9700T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196245770 | ||||||
| chr1:196246068
|
G | A | 1 | a0001c0001t0002g0118 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.3212-9998C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196246068 | ||||||
| chr1:196246106
|
G | T | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.3212-10036C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196246106 | ||||||
| chr1:196246240
|
A | G | 8 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(5): Show | 8 | HG02257.hp1 HG02630.hp1 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.3212-10170T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196246240 | ||||||
| chr1:196246414
|
T | C | 1 | a0001c0001t0001g0130 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.3212-10344A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196246414 | ||||||
| chr1:196246768
|
T | C | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.3212-10698A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196246768 | ||||||
| chr1:196246779
|
C | A | 15 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(12): Show | 15 | HG01109.hp2 HG01261.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.3212-10709G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196246779 | ||||||
| chr1:196246852
|
G | C | 1 | a0001c0001t0001g0068 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3212-10782C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196246852 | ||||||
| chr1:196246853
|
G | T | 1 | a0001c0001t0001g0068 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3212-10783C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196246853 | ||||||
| chr1:196246920
|
A | G | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.3212-10850T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196246920 | ||||||
| chr1:196246938
|
A | G | 1 | a0001c0001t0001g0052 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.3212-10868T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196246938 | ||||||
| chr1:196246962
|
C | T | 1 | a0001c0001t0001g0068 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.3212-10892G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196246962 | ||||||
| chr1:196246993
|
C | T | 1 | a0001c0001t0001g0078 | 1 | NA18984.hp2 | intron_variant | MODIFIER | c.3212-10923G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196246993 | ||||||
| chr1:196247174
|
A | G | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.3211+11020T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196247174 | ||||||
| chr1:196247274
|
G | T | 1 | a0001c0001t0001g0058 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.3211+10920C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196247274 | ||||||
| chr1:196247401
|
C | T | 1 | a0001c0001t0001g0003 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.3211+10793G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196247401 | ||||||
| chr1:196247529
|
C | T | 5 | a0001c0001t0003g0035a0001c0001t0003g0082a0001c0001t0003g0089others(2): Show | 5 | HG02145.hp2 HG02451.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.3211+10665G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196247529 | ||||||
| chr1:196247821
|
A | G | 1 | a0001c0001t0003g0035 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.3211+10373T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196247821 | ||||||
| chr1:196247851
|
C | A | 1 | a0001c0001t0001g0078 | 1 | NA18984.hp2 | intron_variant | MODIFIER | c.3211+10343G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196247851 | ||||||
| chr1:196247892
|
T | C | 5 | a0001c0001t0003g0035a0001c0001t0003g0082a0001c0001t0003g0089others(2): Show | 5 | HG02145.hp2 HG02451.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.3211+10302A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196247892 | ||||||
| chr1:196247954
|
C | A | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.3211+10240G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196247954 | ||||||
| chr1:196248038
|
T | C | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.3211+10156A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196248038 | ||||||
| chr1:196248220
|
A | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.3211+9974T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196248220 | ||||||
| chr1:196248574
|
A | C | 72 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0017others(69): Show | 72 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(69): Show |
intron_variant | MODIFIER | c.3211+9620T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196248574 | ||||||
| chr1:196248826
|
C | A | 4 | a0001c0001t0001g0005a0001c0001t0001g0024a0001c0001t0001g0052others(1): Show | 4 | HG00673.hp2 HG01496.hp1 HG01981.hp2 others(1): Show |
intron_variant | MODIFIER | c.3211+9368G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196248826 | ||||||
| chr1:196249112
|
TA | T | 5 | a0001c0001t0001g0098a0001c0001t0001g0099a0001c0004t0004g0002others(2): Show | 5 | HG00323.hp1 HG01081.hp2 HG02165.hp2 others(2): Show |
intron_variant | MODIFIER | c.3211+9081delT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196249112 | ||||||
| chr1:196249151
|
C | G | 1 | a0001c0001t0003g0035 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.3211+9043G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196249151 | ||||||
| chr1:196249505
|
G | A | 1 | a0001c0001t0001g0036 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.3211+8689C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196249505 | ||||||
| chr1:196249527
|
C | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.3211+8667G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196249527 | ||||||
| chr1:196249741
|
C | T | 1 | a0001c0001t0001g0062 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.3211+8453G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196249741 | ||||||
| chr1:196249825
|
T | C | 1 | a0001c0001t0001g0052 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.3211+8369A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196249825 | ||||||
| chr1:196250204
|
A | G | 30 | a0001c0001t0001g0018a0001c0001t0001g0022a0001c0001t0001g0027others(27): Show | 30 | HG00140.hp1 HG00323.hp2 HG00673.hp1 others(27): Show |
intron_variant | MODIFIER | c.3211+7990T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196250204 | ||||||
| chr1:196250429
|
T | C | 1 | a0001c0001t0001g0060 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.3211+7765A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196250429 | ||||||
| chr1:196250453
|
T | G | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.3211+7741A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196250453 | ||||||
| chr1:196250920
|
A | T | 1 | a0001c0001t0001g0062 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.3211+7274T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196250920 | ||||||
| chr1:196250950
|
C | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.3211+7244G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196250950 | ||||||
| chr1:196250982
|
G | A | 1 | a0001c0007t0001g0091 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.3211+7212C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196250982 | ||||||
| chr1:196251019
|
G | A | 2 | a0001c0002t0001g0123a0001c0002t0001g0125 | 2 | HG02622.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.3211+7175C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196251019 | ||||||
| chr1:196251518
|
T | C | 128 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(125): Show | 128 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(125): Show |
intron_variant | MODIFIER | c.3211+6676A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196251518 | ||||||
| chr1:196251589
|
G | A | 9 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(6): Show | 9 | HG02257.hp1 HG02630.hp1 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.3211+6605C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196251589 | ||||||
| chr1:196251632
|
G | A | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.3211+6562C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196251632 | ||||||
| chr1:196251872
|
T | A | 1 | a0001c0001t0005g0100 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.3211+6322A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196251872 | ||||||
| chr1:196252000
|
C | T | 4 | a0001c0001t0001g0055a0001c0001t0001g0058a0001c0001t0001g0063others(1): Show | 4 | HG00140.hp1 HG00735.hp1 HG00741.hp2 others(1): Show |
intron_variant | MODIFIER | c.3211+6194G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196252000 | ||||||
| chr1:196252092
|
A | G | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.3211+6102T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196252092 | ||||||
| chr1:196252145
|
A | T | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.3211+6049T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196252145 | ||||||
| chr1:196252272
|
A | G | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.3211+5922T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196252272 | ||||||
| chr1:196252358
|
A | G | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.3211+5836T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196252358 | ||||||
| chr1:196252840
|
A | G | 1 | a0001c0001t0003g0035 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.3211+5354T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196252840 | ||||||
| chr1:196252858
|
C | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.3211+5336G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196252858 | ||||||
| chr1:196253074
|
A | G | 1 | a0001c0001t0001g0013 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.3211+5120T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196253074 | ||||||
| chr1:196253091
|
T | C | 1 | a0001c0001t0001g0084 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.3211+5103A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196253091 | ||||||
| chr1:196253249
|
T | C | 1 | a0001c0007t0001g0091 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.3211+4945A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196253249 | ||||||
| chr1:196253310
|
T | G | 2 | a0001c0001t0002g0007a0001c0001t0002g0033 | 2 | HG00735.hp2 HG01106.hp2 |
intron_variant | MODIFIER | c.3211+4884A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196253310 | ||||||
| chr1:196253425
|
C | T | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.3211+4769G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196253425 | ||||||
| chr1:196253503
|
G | A | 1 | a0001c0001t0001g0022 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.3211+4691C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196253503 | ||||||
| chr1:196253699
|
T | C | 1 | a0001c0001t0010g0097 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.3211+4495A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196253699 | ||||||
| chr1:196254175
|
T | C | 1 | a0001c0001t0001g0135 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.3211+4019A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196254175 | ||||||
| chr1:196254292
|
T | G | 16 | a0001c0001t0003g0035a0001c0001t0003g0082a0001c0001t0003g0089others(13): Show | 16 | HG00323.hp1 HG01081.hp2 HG02109.hp1 others(13): Show |
intron_variant | MODIFIER | c.3211+3902A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196254292 | ||||||
| chr1:196254592
|
C | T | 2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.3211+3602G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196254592 | ||||||
| chr1:196254605
|
G | A | 8 | a0001c0001t0001g0018a0001c0001t0001g0043a0001c0001t0001g0054others(5): Show | 8 | HG01106.hp1 HG01168.hp2 HG01496.hp2 others(5): Show |
intron_variant | MODIFIER | c.3211+3589C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196254605 | ||||||
| chr1:196254906
|
T | C | 1 | a0001c0007t0001g0091 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.3211+3288A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196254906 | ||||||
| chr1:196255063
|
G | A | 128 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(125): Show | 128 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(125): Show |
intron_variant | MODIFIER | c.3211+3131C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196255063 | ||||||
| chr1:196255208
|
G | A | 64 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0017others(61): Show | 64 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(61): Show |
intron_variant | MODIFIER | c.3211+2986C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196255208 | ||||||
| chr1:196255246
|
A | T | 1 | a0001c0001t0001g0074 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.3211+2948T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196255246 | ||||||
| chr1:196255315
|
A | G | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.3211+2879T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196255315 | ||||||
| chr1:196255470
|
A | G | 15 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(12): Show | 15 | HG01109.hp2 HG01261.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.3211+2724T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196255470 | ||||||
| chr1:196255774
|
G | A | 21 | a0001c0001t0002g0007a0001c0001t0002g0026a0001c0001t0002g0028others(18): Show | 21 | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(18): Show |
intron_variant | MODIFIER | c.3211+2420C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196255774 | ||||||
| chr1:196255864
|
C | CTT | 5 | a0001c0001t0005g0100a0001c0001t0005g0106a0001c0004t0004g0002others(2): Show | 5 | HG00323.hp1 HG01081.hp2 HG02165.hp2 others(2): Show |
intron_variant | MODIFIER | c.3211+2328_3211+232 others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196255864 | ||||||
| chr1:196255969
|
C | T | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.3211+2225G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196255969 | ||||||
| chr1:196256168
|
A | G | 1 | a0001c0002t0001g0125 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.3211+2026T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196256168 | ||||||
| chr1:196256290
|
C | G | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.3211+1904G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196256290 | ||||||
| chr1:196256584
|
GT | G | 32 | a0001c0001t0001g0018a0001c0001t0001g0022a0001c0001t0001g0027others(29): Show | 32 | HG00140.hp1 HG00323.hp2 HG00673.hp1 others(29): Show |
intron_variant | MODIFIER | c.3211+1609delA | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196256584 | ||||||
| chr1:196256586
|
T | G | 1 | a0001c0001t0001g0136 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.3211+1608A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196256586 | ||||||
| chr1:196256605
|
ATAAT | A | 2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.3211+1585_3211+158 others(8): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196256605 | ||||||
| chr1:196256616
|
T | A | 1 | a0001c0001t0001g0078 | 1 | NA18984.hp2 | intron_variant | MODIFIER | c.3211+1578A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196256616 | ||||||
| chr1:196256709
|
A | AAT | 16 | a0001c0001t0001g0055a0001c0001t0002g0026a0001c0001t0002g0048others(13): Show | 16 | HG00639.hp1 HG00735.hp1 HG01074.hp1 others(13): Show |
intron_variant | MODIFIER | c.3211+1483_3211+148 others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196256709 | ||||||
| chr1:196256709
|
A | AATAT | 11 | a0001c0001t0002g0007a0001c0001t0002g0028a0001c0001t0002g0029others(8): Show | 11 | HG00735.hp2 HG01106.hp2 HG01346.hp1 others(8): Show |
intron_variant | MODIFIER | c.3211+1481_3211+148 others(8): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196256709 | ||||||
| chr1:196256709
|
A | AATATAT | 2 | a0001c0001t0002g0030a0001c0001t0002g0031 | 2 | HG00741.hp1 HG01168.hp1 |
intron_variant | MODIFIER | c.3211+1479_3211+148 others(10): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196256709 | ||||||
| chr1:196256709
|
A | AATATATA others(9): Show |
1 | a0001c0007t0001g0091 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.3211+1469_3211+148 others(20): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196256709 | ||||||
| chr1:196256709
|
AAT | A | 5 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(2): Show | 5 | HG02622.hp2 HG02818.hp1 HG02965.hp1 others(2): Show |
intron_variant | MODIFIER | c.3211+1483_3211+148 others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196256709 | ||||||
| chr1:196256753
|
A | G | 1 | a0001c0003t0008g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.3211+1441T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196256753 | ||||||
| chr1:196256952
|
T | C | 1 | a0001c0001t0002g0026 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.3211+1242A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196256952 | ||||||
| chr1:196257174
|
T | A | 1 | a0001c0001t0001g0003 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.3211+1020A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196257174 | ||||||
| chr1:196257205
|
T | C | 5 | a0001c0001t0003g0035a0001c0001t0003g0082a0001c0001t0003g0089others(2): Show | 5 | HG02145.hp2 HG02451.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.3211+989A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196257205 | ||||||
| chr1:196257585
|
C | G | 1 | a0001c0001t0001g0011 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.3211+609G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196257585 | ||||||
| chr1:196257702
|
A | G | 1 | a0001c0002t0001g0123 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.3211+492T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196257702 | ||||||
| chr1:196257723
|
T | C | 1 | a0001c0001t0001g0041 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.3211+471A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196257723 | ||||||
| chr1:196257759
|
C | A | 131 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(128): Show | 131 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(128): Show |
intron_variant | MODIFIER | c.3211+435G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196257759 | ||||||
| chr1:196257763
|
A | G | 7 | a0001c0001t0001g0022a0001c0001t0001g0027a0001c0001t0001g0042others(4): Show | 7 | HG00673.hp1 HG02293.hp2 NA18984.hp1 others(4): Show |
intron_variant | MODIFIER | c.3211+431T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196257763 | ||||||
| chr1:196257819
|
G | C | 1 | a0001c0001t0001g0003 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.3211+375C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196257819 | ||||||
| chr1:196257847
|
G | A | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.3211+347C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196257847 | ||||||
| chr1:196258062
|
A | T | 2 | a0001c0001t0001g0039a0001c0001t0009g0038 | 2 | HG03225.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.3211+132T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196258062 | ||||||
| chr1:196258072
|
A | G | 2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.3211+122T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196258072 | ||||||
| chr1:196258169
|
A | G | 2 | a0001c0001t0001g0046a0001c0001t0001g0075 | 2 | HG03471.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.3211+25T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 26/27 | chr1 | 196258169 | ||||||
| chr1:196258507
|
T | C | 3 | a0001c0001t0001g0025a0001c0001t0005g0100a0001c0001t0005g0106 | 3 | HG01358.hp2 HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.2911-13A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196258507 | ||||||
| chr1:196258581
|
T | TGTTATA | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2911-93_2911-88dup others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196258581 | ||||||
| chr1:196258926
|
A | G | 1 | a0001c0001t0001g0078 | 1 | NA18984.hp2 | intron_variant | MODIFIER | c.2911-432T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196258926 | ||||||
| chr1:196258982
|
C | G | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.2911-488G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196258982 | ||||||
| chr1:196259416
|
T | C | 1 | a0001c0001t0001g0096 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.2911-922A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196259416 | ||||||
| chr1:196259430
|
C | T | 1 | a0001c0002t0001g0122 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.2911-936G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196259430 | ||||||
| chr1:196259699
|
T | A | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.2911-1205A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196259699 | ||||||
| chr1:196259820
|
A | G | 2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.2911-1326T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196259820 | ||||||
| chr1:196260102
|
CAG | C | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.2911-1610_2911-160 others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196260102 | ||||||
| chr1:196260825
|
G | A | 1 | a0001c0002t0001g0122 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.2911-2331C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196260825 | ||||||
| chr1:196260845
|
C | T | 1 | a0001c0001t0001g0088 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.2911-2351G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196260845 | ||||||
| chr1:196261087
|
C | T | 2 | a0001c0001t0002g0049a0001c0001t0002g0051 | 2 | HG00639.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.2911-2593G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196261087 | ||||||
| chr1:196261130
|
A | G | 3 | a0001c0005t0001g0014a0001c0005t0001g0015a0001c0005t0001g0016 | 3 | HG02257.hp1 HG02630.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.2911-2636T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196261130 | ||||||
| chr1:196261829
|
G | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2911-3335C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196261829 | ||||||
| chr1:196261869
|
G | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2911-3375C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196261869 | ||||||
| chr1:196261964
|
T | C | 9 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(6): Show | 9 | HG02257.hp1 HG02630.hp1 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.2911-3470A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196261964 | ||||||
| chr1:196262069
|
G | T | 1 | a0001c0003t0008g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.2911-3575C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196262069 | ||||||
| chr1:196262295
|
G | A | 3 | a0001c0001t0001g0059a0001c0001t0001g0135a0001c0001t0011g0066 | 3 | HG01081.hp1 HG02165.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.2911-3801C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196262295 | ||||||
| chr1:196262318
|
T | G | 1 | a0001c0001t0001g0046 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.2911-3824A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196262318 | ||||||
| chr1:196262483
|
C | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2911-3989G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196262483 | ||||||
| chr1:196262912
|
G | C | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2911-4418C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196262912 | ||||||
| chr1:196263016
|
T | G | 1 | a0001c0003t0008g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.2911-4522A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196263016 | ||||||
| chr1:196263069
|
A | C | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.2911-4575T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196263069 | ||||||
| chr1:196263104
|
TC | T | 3 | a0001c0001t0003g0089a0001c0001t0003g0103a0001c0001t0003g0104 | 3 | HG02145.hp2 HG02723.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.2911-4611delG | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196263104 | ||||||
| chr1:196263175
|
C | CT | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.2911-4682dupA | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196263175 | ||||||
| chr1:196263186
|
T | A | 1 | a0001c0001t0001g0105 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2911-4692A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196263186 | ||||||
| chr1:196263223
|
G | A | 1 | a0001c0001t0001g0006 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.2911-4729C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196263223 | ||||||
| chr1:196263223
|
G | T | 1 | a0001c0001t0001g0065 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.2911-4729C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196263223 | ||||||
| chr1:196263238
|
A | C | 1 | a0001c0001t0002g0115 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.2911-4744T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196263238 | ||||||
| chr1:196263613
|
C | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2911-5119G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196263613 | ||||||
| chr1:196263995
|
G | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2911-5501C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196263995 | ||||||
| chr1:196264263
|
T | C | 64 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0017others(61): Show | 64 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(61): Show |
intron_variant | MODIFIER | c.2911-5769A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196264263 | ||||||
| chr1:196264785
|
T | C | 2 | a0001c0001t0002g0115a0001c0001t0002g0116 | 2 | HG02258.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.2911-6291A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196264785 | ||||||
| chr1:196264788
|
C | T | 1 | a0001c0001t0001g0064 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.2911-6294G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196264788 | ||||||
| chr1:196264885
|
C | T | 2 | a0001c0001t0002g0115a0001c0001t0002g0116 | 2 | HG02258.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.2911-6391G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196264885 | ||||||
| chr1:196265053
|
T | A | 2 | a0001c0001t0001g0095a0001c0001t0001g0096 | 2 | HG01109.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.2911-6559A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196265053 | ||||||
| chr1:196265193
|
G | A | 75 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(72): Show | 75 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(72): Show |
intron_variant | MODIFIER | c.2911-6699C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196265193 | ||||||
| chr1:196265385
|
A | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2911-6891T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196265385 | ||||||
| chr1:196265696
|
C | T | 3 | a0001c0001t0001g0098a0001c0001t0001g0099a0001c0001t0010g0097 | 3 | HG02572.hp1 HG03471.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.2911-7202G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196265696 | ||||||
| chr1:196265802
|
A | G | 15 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(12): Show | 15 | HG01109.hp2 HG01261.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.2911-7308T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196265802 | ||||||
| chr1:196265820
|
T | C | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2911-7326A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196265820 | ||||||
| chr1:196266003
|
A | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2911-7509T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196266003 | ||||||
| chr1:196266028
|
A | G | 5 | a0001c0001t0003g0035a0001c0001t0003g0082a0001c0001t0003g0089others(2): Show | 5 | HG02145.hp2 HG02451.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.2911-7534T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196266028 | ||||||
| chr1:196266221
|
G | T | 75 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(72): Show | 75 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(72): Show |
intron_variant | MODIFIER | c.2911-7727C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196266221 | ||||||
| chr1:196266268
|
A | G | 1 | a0001c0001t0002g0032 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.2911-7774T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196266268 | ||||||
| chr1:196266402
|
T | C | 15 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(12): Show | 15 | HG01109.hp2 HG01261.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.2911-7908A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196266402 | ||||||
| chr1:196266440
|
A | G | 1 | a0001c0001t0001g0079 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.2911-7946T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196266440 | ||||||
| chr1:196266620
|
C | T | 1 | a0001c0001t0001g0059 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.2911-8126G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196266620 | ||||||
| chr1:196266896
|
C | T | 73 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(70): Show | 73 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(70): Show |
intron_variant | MODIFIER | c.2911-8402G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196266896 | ||||||
| chr1:196266916
|
C | T | 1 | a0001c0001t0001g0037 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2911-8422G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196266916 | ||||||
| chr1:196267064
|
A | C | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2911-8570T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196267064 | ||||||
| chr1:196267270
|
C | T | 2 | a0001c0001t0001g0098a0001c0001t0001g0099 | 2 | HG03471.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.2911-8776G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196267270 | ||||||
| chr1:196267295
|
C | T | 91 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(88): Show | 91 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(88): Show |
intron_variant | MODIFIER | c.2911-8801G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196267295 | ||||||
| chr1:196267315
|
T | C | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.2911-8821A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196267315 | ||||||
| chr1:196267383
|
C | A | 1 | a0001c0001t0001g0071 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.2911-8889G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196267383 | ||||||
| chr1:196267515
|
T | C | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.2911-9021A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196267515 | ||||||
| chr1:196267694
|
T | C | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2911-9200A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196267694 | ||||||
| chr1:196267710
|
A | C | 1 | a0001c0001t0001g0095 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.2911-9216T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196267710 | ||||||
| chr1:196267730
|
G | A | 1 | a0001c0001t0001g0084 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.2911-9236C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196267730 | ||||||
| chr1:196267985
|
T | C | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2911-9491A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196267985 | ||||||
| chr1:196268429
|
T | C | 1 | a0001c0001t0001g0042 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.2911-9935A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196268429 | ||||||
| chr1:196268592
|
C | A | 1 | a0001c0001t0003g0082 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.2911-10098G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196268592 | ||||||
| chr1:196268828
|
A | T | 131 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(128): Show | 131 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(128): Show |
intron_variant | MODIFIER | c.2911-10334T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196268828 | ||||||
| chr1:196268850
|
T | C | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2911-10356A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196268850 | ||||||
| chr1:196268977
|
A | T | 5 | a0001c0001t0003g0035a0001c0001t0003g0082a0001c0001t0003g0089others(2): Show | 5 | HG02145.hp2 HG02451.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.2911-10483T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196268977 | ||||||
| chr1:196269016
|
C | T | 131 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(128): Show | 131 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(128): Show |
intron_variant | MODIFIER | c.2911-10522G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196269016 | ||||||
| chr1:196269150
|
T | C | 3 | a0001c0001t0003g0089a0001c0001t0003g0103a0001c0001t0003g0104 | 3 | HG02145.hp2 HG02723.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.2911-10656A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196269150 | ||||||
| chr1:196269191
|
T | C | 1 | a0001c0001t0001g0073 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.2911-10697A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196269191 | ||||||
| chr1:196269399
|
C | T | 1 | a0002c0008t0001g0020 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.2911-10905G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196269399 | ||||||
| chr1:196269518
|
T | C | 3 | a0001c0001t0001g0130a0001c0001t0005g0100a0001c0001t0005g0106 | 3 | HG03130.hp2 HG03486.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.2911-11024A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196269518 | ||||||
| chr1:196269596
|
C | A | 91 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(88): Show | 91 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(88): Show |
intron_variant | MODIFIER | c.2911-11102G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196269596 | ||||||
| chr1:196269708
|
T | C | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2910+11152A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196269708 | ||||||
| chr1:196269786
|
C | T | 1 | a0001c0001t0001g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.2910+11074G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196269786 | ||||||
| chr1:196270238
|
A | G | 73 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(70): Show | 73 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(70): Show |
intron_variant | MODIFIER | c.2910+10622T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196270238 | ||||||
| chr1:196270270
|
C | T | 2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.2910+10590G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196270270 | ||||||
| chr1:196270345
|
A | G | 91 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(88): Show | 91 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(88): Show |
intron_variant | MODIFIER | c.2910+10515T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196270345 | ||||||
| chr1:196270502
|
T | C | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2910+10358A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196270502 | ||||||
| chr1:196270744
|
T | A | 5 | a0001c0001t0003g0035a0001c0001t0003g0082a0001c0001t0003g0089others(2): Show | 5 | HG02145.hp2 HG02451.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.2910+10116A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196270744 | ||||||
| chr1:196270764
|
C | T | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.2910+10096G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196270764 | ||||||
| chr1:196270828
|
G | GGT | 21 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(18): Show | 21 | HG01109.hp2 HG01261.hp1 HG01981.hp1 others(18): Show |
intron_variant | MODIFIER | c.2910+10030_2910+10 others(8): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196270828 | ||||||
| chr1:196270828
|
G | GGTGT | 5 | a0001c0002t0001g0121a0001c0002t0001g0123a0001c0002t0001g0124others(2): Show | 5 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.2910+10028_2910+10 others(10): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196270828 | ||||||
| chr1:196270990
|
C | T | 59 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0017others(56): Show | 59 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(56): Show |
intron_variant | MODIFIER | c.2910+9870G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196270990 | ||||||
| chr1:196271205
|
C | A | 15 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0017others(12): Show | 15 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(12): Show |
intron_variant | MODIFIER | c.2910+9655G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196271205 | ||||||
| chr1:196271229
|
T | C | 1 | a0001c0001t0001g0046 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.2910+9631A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196271229 | ||||||
| chr1:196271358
|
G | A | 1 | a0001c0001t0002g0048 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.2910+9502C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196271358 | ||||||
| chr1:196271398
|
C | T | 1 | a0001c0001t0001g0065 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.2910+9462G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196271398 | ||||||
| chr1:196272279
|
G | A | 2 | a0001c0001t0001g0058a0001c0001t0001g0063 | 2 | HG00140.hp1 HG00741.hp2 |
intron_variant | MODIFIER | c.2910+8581C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196272279 | ||||||
| chr1:196272374
|
C | A | 2 | a0001c0001t0001g0006a0001c0001t0001g0025 | 2 | HG01358.hp2 HG03834.hp1 |
intron_variant | MODIFIER | c.2910+8486G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196272374 | ||||||
| chr1:196272438
|
T | C | 9 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(6): Show | 9 | HG02257.hp1 HG02630.hp1 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.2910+8422A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196272438 | ||||||
| chr1:196272497
|
A | G | 5 | a0001c0001t0003g0035a0001c0001t0003g0082a0001c0001t0003g0089others(2): Show | 5 | HG02145.hp2 HG02451.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.2910+8363T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196272497 | ||||||
| chr1:196272907
|
G | C | 1 | a0001c0001t0002g0051 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.2910+7953C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196272907 | ||||||
| chr1:196272983
|
A | T | 1 | a0001c0001t0001g0135 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.2910+7877T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196272983 | ||||||
| chr1:196273025
|
C | G | 2 | a0001c0001t0002g0115a0001c0001t0002g0116 | 2 | HG02258.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.2910+7835G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196273025 | ||||||
| chr1:196273382
|
C | T | 1 | a0001c0001t0002g0026 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.2910+7478G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196273382 | ||||||
| chr1:196273634
|
T | G | 106 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(103): Show | 106 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(103): Show |
intron_variant | MODIFIER | c.2910+7226A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196273634 | ||||||
| chr1:196273759
|
C | T | 1 | a0001c0007t0001g0091 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.2910+7101G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196273759 | ||||||
| chr1:196273866
|
A | T | 22 | a0001c0001t0001g0022a0001c0001t0001g0027a0001c0001t0001g0040others(19): Show | 22 | HG00140.hp1 HG00323.hp2 HG00673.hp1 others(19): Show |
intron_variant | MODIFIER | c.2910+6994T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196273866 | ||||||
| chr1:196273882
|
G | A | 75 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(72): Show | 75 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(72): Show |
intron_variant | MODIFIER | c.2910+6978C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196273882 | ||||||
| chr1:196273929
|
C | T | 59 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0017others(56): Show | 59 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(56): Show |
intron_variant | MODIFIER | c.2910+6931G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196273929 | ||||||
| chr1:196273977
|
A | G | 1 | a0001c0001t0001g0018 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.2910+6883T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196273977 | ||||||
| chr1:196274168
|
C | A | 1 | a0001c0001t0001g0023 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.2910+6692G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196274168 | ||||||
| chr1:196274409
|
G | T | 2 | a0001c0001t0001g0039a0001c0001t0009g0038 | 2 | HG03225.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.2910+6451C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196274409 | ||||||
| chr1:196274664
|
T | C | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.2910+6196A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196274664 | ||||||
| chr1:196275127
|
T | C | 1 | a0001c0002t0001g0121 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.2910+5733A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196275127 | ||||||
| chr1:196275409
|
C | CT | 131 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(128): Show | 131 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(128): Show |
intron_variant | MODIFIER | c.2910+5450dupA | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196275409 | ||||||
| chr1:196275419
|
G | A | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.2910+5441C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196275419 | ||||||
| chr1:196275440
|
C | T | 2 | a0001c0001t0002g0115a0001c0001t0002g0116 | 2 | HG02258.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.2910+5420G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196275440 | ||||||
| chr1:196275557
|
A | G | 2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.2910+5303T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196275557 | ||||||
| chr1:196275645
|
A | G | 1 | a0001c0001t0001g0022 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.2910+5215T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196275645 | ||||||
| chr1:196276242
|
T | A | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.2910+4618A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196276242 | ||||||
| chr1:196276351
|
T | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2910+4509A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196276351 | ||||||
| chr1:196276506
|
C | T | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.2910+4354G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196276506 | ||||||
| chr1:196276570
|
G | T | 1 | a0001c0001t0001g0070 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.2910+4290C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196276570 | ||||||
| chr1:196276586
|
C | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2910+4274G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196276586 | ||||||
| chr1:196276664
|
G | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2910+4196C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196276664 | ||||||
| chr1:196276784
|
C | A | 18 | a0001c0001t0002g0007a0001c0001t0002g0028a0001c0001t0002g0029others(15): Show | 18 | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(15): Show |
intron_variant | MODIFIER | c.2910+4076G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196276784 | ||||||
| chr1:196277063
|
T | G | 1 | a0001c0001t0003g0089 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.2910+3797A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196277063 | ||||||
| chr1:196277165
|
T | C | 2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.2910+3695A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196277165 | ||||||
| chr1:196277216
|
A | C | 1 | a0001c0001t0005g0106 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.2910+3644T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196277216 | ||||||
| chr1:196277357
|
G | A | 2 | a0001c0001t0001g0008a0001c0001t0001g0009 | 2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.2910+3503C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196277357 | ||||||
| chr1:196277421
|
G | C | 1 | a0001c0001t0001g0045 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.2910+3439C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196277421 | ||||||
| chr1:196277446
|
C | T | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.2910+3414G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196277446 | ||||||
| chr1:196277447
|
G | A | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.2910+3413C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196277447 | ||||||
| chr1:196277486
|
T | C | 2 | a0001c0001t0001g0039a0001c0001t0009g0038 | 2 | HG03225.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.2910+3374A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196277486 | ||||||
| chr1:196277592
|
G | T | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.2910+3268C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196277592 | ||||||
| chr1:196277792
|
T | C | 91 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(88): Show | 91 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(88): Show |
intron_variant | MODIFIER | c.2910+3068A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196277792 | ||||||
| chr1:196277832
|
G | A | 2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.2910+3028C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196277832 | ||||||
| chr1:196277885
|
A | C | 1 | a0001c0001t0001g0073 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.2910+2975T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196277885 | ||||||
| chr1:196277960
|
A | T | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.2910+2900T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196277960 | ||||||
| chr1:196278051
|
G | T | 2 | a0001c0001t0002g0028a0001c0001t0002g0029 | 2 | NA19009.hp2 NA19062.hp2 |
intron_variant | MODIFIER | c.2910+2809C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196278051 | ||||||
| chr1:196278137
|
A | G | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.2910+2723T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196278137 | ||||||
| chr1:196278533
|
A | G | 1 | a0001c0004t0004g0132 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.2910+2327T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196278533 | ||||||
| chr1:196278552
|
T | C | 7 | a0001c0001t0001g0036a0001c0001t0001g0086a0001c0001t0001g0087others(4): Show | 7 | HG02258.hp1 HG02723.hp2 HG03209.hp2 others(4): Show |
intron_variant | MODIFIER | c.2910+2308A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196278552 | ||||||
| chr1:196278837
|
A | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2910+2023T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196278837 | ||||||
| chr1:196278915
|
A | G | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.2910+1945T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196278915 | ||||||
| chr1:196278963
|
C | T | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.2910+1897G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196278963 | ||||||
| chr1:196279421
|
AT | A | 5 | a0001c0003t0001g0108a0001c0003t0001g0109a0001c0003t0001g0111others(2): Show | 5 | HG01891.hp1 HG02280.hp2 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.2910+1438delA | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196279421 | ||||||
| chr1:196279696
|
G | A | 25 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0017others(22): Show | 25 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(22): Show |
intron_variant | MODIFIER | c.2910+1164C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196279696 | ||||||
| chr1:196279952
|
T | A | 34 | a0001c0001t0001g0018a0001c0001t0001g0022a0001c0001t0001g0027others(31): Show | 34 | HG00140.hp1 HG00323.hp2 HG00673.hp1 others(31): Show |
intron_variant | MODIFIER | c.2910+908A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196279952 | ||||||
| chr1:196280065
|
GA | G | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.2910+794delT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196280065 | ||||||
| chr1:196280264
|
G | C | 131 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(128): Show | 131 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(128): Show |
intron_variant | MODIFIER | c.2910+596C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196280264 | ||||||
| chr1:196280340
|
T | G | 5 | a0001c0001t0003g0035a0001c0001t0003g0082a0001c0001t0003g0089others(2): Show | 5 | HG02145.hp2 HG02451.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.2910+520A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196280340 | ||||||
| chr1:196280364
|
T | C | 1 | a0001c0001t0002g0113 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.2910+496A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 25/27 | chr1 | 196280364 | ||||||
| chr1:196281283
|
C | T | 73 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(70): Show | 73 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(70): Show |
intron_variant | MODIFIER | c.2782-295G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 24/27 | chr1 | 196281283 | ||||||
| chr1:196281395
|
G | C | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.2782-407C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 24/27 | chr1 | 196281395 | ||||||
| chr1:196281459
|
G | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2782-471C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 24/27 | chr1 | 196281459 | ||||||
| chr1:196281858
|
G | A | 3 | a0001c0001t0002g0049a0001c0001t0002g0050a0001c0001t0002g0051 | 3 | HG00639.hp1 HG01074.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.2781+415C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 24/27 | chr1 | 196281858 | ||||||
| chr1:196281877
|
G | A | 1 | a0001c0001t0002g0048 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.2781+396C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 24/27 | chr1 | 196281877 | ||||||
| chr1:196282090
|
A | C | 1 | a0001c0001t0003g0035 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2781+183T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 24/27 | chr1 | 196282090 | ||||||
| chr1:196282170
|
C | T | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.2781+103G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 24/27 | chr1 | 196282170 | ||||||
| chr1:196282363
|
T | C | 1 | a0001c0001t0002g0114 | 1 | HG04228.hp1 | splice_region_variant&intron_variant | LOW | c.2698-7A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196282363 | ||||||
| chr1:196282392
|
T | C | 64 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0017others(61): Show | 64 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(61): Show |
intron_variant | MODIFIER | c.2698-36A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196282392 | ||||||
| chr1:196282564
|
C | T | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.2698-208G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196282564 | ||||||
| chr1:196282676
|
T | C | 1 | a0001c0004t0004g0132 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.2698-320A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196282676 | ||||||
| chr1:196282824
|
T | C | 1 | a0001c0001t0001g0107 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.2698-468A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196282824 | ||||||
| chr1:196283029
|
A | G | 91 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(88): Show | 91 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(88): Show |
intron_variant | MODIFIER | c.2698-673T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196283029 | ||||||
| chr1:196283065
|
A | T | 1 | a0001c0001t0001g0078 | 1 | NA18984.hp2 | intron_variant | MODIFIER | c.2698-709T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196283065 | ||||||
| chr1:196283123
|
C | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2698-767G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196283123 | ||||||
| chr1:196283124
|
A | G | 60 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(57): Show | 60 | HG00323.hp1 HG00639.hp1 HG00735.hp2 others(57): Show |
intron_variant | MODIFIER | c.2698-768T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196283124 | ||||||
| chr1:196283224
|
G | T | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.2698-868C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196283224 | ||||||
| chr1:196283301
|
C | T | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.2698-945G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196283301 | ||||||
| chr1:196283648
|
A | T | 2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.2698-1292T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196283648 | ||||||
| chr1:196283803
|
A | T | 1 | a0001c0001t0001g0071 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.2698-1447T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196283803 | ||||||
| chr1:196283879
|
T | C | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.2698-1523A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196283879 | ||||||
| chr1:196283889
|
C | A | 1 | a0001c0001t0005g0100 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.2698-1533G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196283889 | ||||||
| chr1:196284006
|
C | A | 131 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(128): Show | 131 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(128): Show |
intron_variant | MODIFIER | c.2698-1650G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284006 | ||||||
| chr1:196284210
|
G | A | 1 | a0001c0001t0001g0046 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.2697+1447C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284210 | ||||||
| chr1:196284230
|
T | TA | 6 | a0001c0001t0001g0039a0001c0002t0001g0121a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.2697+1426dupT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284230 | ||||||
| chr1:196284230
|
T | TAAA | 5 | a0001c0001t0002g0115a0001c0001t0002g0116a0001c0001t0003g0035others(2): Show | 5 | HG02258.hp2 HG02451.hp1 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.2697+1424_2697+142 others(7): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284230 | ||||||
| chr1:196284230
|
T | TAAAAAAA others(8): Show |
1 | a0001c0001t0001g0064 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.2697+1412_2697+142 others(19): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284230 | ||||||
| chr1:196284246
|
A | ATATATAT others(14): Show |
1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.2697+1410_2697+141 others(25): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284246 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(27): Show |
1 | a0001c0001t0001g0075 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2697+1408_2697+140 others(38): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(28): Show |
1 | a0001c0001t0001g0054 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.2697+1408_2697+140 others(39): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(31): Show |
2 | a0001c0001t0001g0070a0001c0001t0001g0129 | 2 | HG02647.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.2697+1408_2697+140 others(42): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(20): Show |
2 | a0001c0001t0001g0021a0001c0001t0001g0065 | 2 | HG00140.hp2 HG01891.hp2 |
intron_variant | MODIFIER | c.2697+1408_2697+140 others(31): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(24): Show |
1 | a0001c0001t0001g0023 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.2697+1408_2697+140 others(35): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(26): Show |
1 | a0001c0001t0001g0057 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.2697+1408_2697+140 others(37): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(30): Show |
2 | a0001c0001t0001g0024a0001c0001t0001g0053 | 2 | HG01175.hp2 NA18990.hp1 |
intron_variant | MODIFIER | c.2697+1408_2697+140 others(41): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(21): Show |
1 | a0001c0001t0001g0036 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.2697+1408_2697+140 others(32): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(23): Show |
5 | a0001c0001t0001g0006a0001c0001t0001g0025a0001c0001t0001g0056others(2): Show | 5 | HG01358.hp2 HG02630.hp2 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.2697+1408_2697+140 others(34): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(25): Show |
2 | a0001c0001t0001g0017a0001c0001t0001g0052 | 2 | HG00639.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.2697+1408_2697+140 others(36): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(27): Show |
1 | a0001c0001t0001g0037 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2697+1408_2697+140 others(38): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(29): Show |
2 | a0001c0001t0001g0046a0001c0001t0001g0074 | 2 | HG03516.hp2 NA18990.hp2 |
intron_variant | MODIFIER | c.2697+1408_2697+140 others(40): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(33): Show |
1 | a0001c0001t0001g0085 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.2697+1408_2697+140 others(44): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(22): Show |
1 | a0001c0001t0001g0063 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.2697+1408_2697+140 others(33): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(24): Show |
4 | a0001c0001t0001g0005a0001c0001t0001g0041a0001c0001t0001g0079others(1): Show | 4 | HG00673.hp2 HG02965.hp1 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.2697+1408_2697+140 others(35): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(26): Show |
2 | a0001c0001t0001g0019a0001c0001t0001g0134 | 2 | HG01074.hp2 HG01496.hp1 |
intron_variant | MODIFIER | c.2697+1408_2697+140 others(37): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(28): Show |
2 | a0001c0001t0001g0018a0001c0001t0001g0136 | 2 | HG01981.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.2697+1408_2697+140 others(39): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(32): Show |
1 | a0002c0008t0001g0020 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.2697+1408_2697+140 others(43): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(34): Show |
1 | a0001c0001t0001g0047 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.2697+1408_2697+140 others(45): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(36): Show |
1 | a0001c0001t0001g0043 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.2697+1408_2697+140 others(47): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(23): Show |
1 | a0001c0001t0001g0102 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2697+1408_2697+140 others(34): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(25): Show |
1 | a0001c0001t0001g0083 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.2697+1408_2697+140 others(36): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(27): Show |
1 | a0001c0001t0001g0135 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.2697+1408_2697+140 others(38): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(14): Show |
1 | a0001c0001t0001g0086 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.2697+1408_2697+140 others(25): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(20): Show |
1 | a0001c0006t0001g0067 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.2697+1408_2697+140 others(31): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(22): Show |
2 | a0001c0001t0001g0062a0001c0001t0001g0084 | 2 | HG03041.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.2697+1408_2697+140 others(33): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(24): Show |
2 | a0001c0001t0001g0045a0001c0001t0001g0055 | 2 | HG00735.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.2697+1408_2697+140 others(35): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(28): Show |
2 | a0001c0001t0001g0080a0001c0001t0006g0001 | 2 | HG01261.hp2 HG02293.hp2 |
intron_variant | MODIFIER | c.2697+1408_2697+140 others(39): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(34): Show |
1 | a0001c0001t0001g0044 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.2697+1408_2697+140 others(45): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(17): Show |
1 | a0001c0001t0001g0105 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2697+1408_2697+140 others(28): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(19): Show |
2 | a0001c0001t0001g0022a0001c0001t0001g0040 | 2 | NA18988.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.2697+1408_2697+140 others(30): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(23): Show |
2 | a0001c0001t0001g0058a0001c0001t0011g0066 | 2 | HG00140.hp1 HG02165.hp1 |
intron_variant | MODIFIER | c.2697+1408_2697+140 others(34): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(25): Show |
2 | a0001c0001t0001g0042a0001c0001t0001g0069 | 2 | HG00323.hp2 NA19062.hp1 |
intron_variant | MODIFIER | c.2697+1408_2697+140 others(36): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(27): Show |
1 | a0001c0006t0001g0061 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2697+1408_2697+140 others(38): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(12): Show |
1 | a0001c0001t0001g0060 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.2697+1408_2697+140 others(23): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(14): Show |
1 | a0001c0001t0001g0003 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.2697+1408_2697+140 others(25): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(20): Show |
2 | a0001c0001t0001g0078a0001c0001t0001g0090 | 2 | HG02258.hp1 NA18984.hp2 |
intron_variant | MODIFIER | c.2697+1408_2697+140 others(31): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(22): Show |
1 | a0001c0001t0001g0068 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.2697+1408_2697+140 others(33): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(15): Show |
1 | a0001c0005t0001g0015 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2697+1408_2697+140 others(26): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(21): Show |
1 | a0001c0005t0001g0016 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.2697+1408_2697+140 others(32): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(25): Show |
1 | a0001c0001t0001g0072 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.2697+1408_2697+140 others(36): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(8): Show |
1 | a0001c0001t0001g0010 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.2697+1408_2697+140 others(19): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(12): Show |
1 | a0001c0001t0001g0008 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.2697+1408_2697+140 others(23): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(16): Show |
1 | a0001c0001t0001g0013 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2697+1408_2697+140 others(27): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(22): Show |
3 | a0001c0001t0001g0027a0001c0001t0001g0059a0001c0005t0001g0014 | 3 | HG02965.hp2 NA18984.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.2697+1408_2697+140 others(33): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(3): Show |
1 | a0001c0001t0002g0050 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.2697+1408_2697+140 others(14): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAAAA others(11): Show |
1 | a0001c0001t0001g0009 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.2697+1408_2697+140 others(22): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAATA others(3): Show |
1 | a0001c0002t0001g0122 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.2697+1408_2697+140 others(14): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAAT | 6 | a0001c0001t0002g0007a0001c0001t0002g0030a0001c0001t0002g0031others(3): Show | 6 | HG00735.hp2 HG00741.hp1 HG01106.hp2 others(3): Show |
intron_variant | MODIFIER | c.2697+1408_2697+140 others(9): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAATAT others(4): Show |
1 | a0001c0001t0002g0051 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.2697+1408_2697+140 others(15): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAAT | 7 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(4): Show | 7 | HG02572.hp1 HG02717.hp1 HG02809.hp1 others(4): Show |
intron_variant | MODIFIER | c.2697+1408_2697+140 others(8): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAATATA others(3): Show |
2 | a0001c0001t0003g0103a0001c0001t0003g0104 | 2 | HG02145.hp2 HG02723.hp1 |
intron_variant | MODIFIER | c.2697+1408_2697+140 others(14): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAATATA others(15): Show |
1 | a0001c0004t0004g0132 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.2697+1408_2697+140 others(26): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAAATATA others(17): Show |
1 | a0001c0004t0004g0133 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.2697+1408_2697+140 others(28): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAATATAT others(4): Show |
1 | a0001c0001t0001g0071 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.2697+1408_2697+140 others(15): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | AAATATAT others(6): Show |
1 | a0001c0001t0003g0089 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.2697+1408_2697+140 others(17): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284248
|
A | T | 1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.2697+1409T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284248 | ||||||
| chr1:196284249
|
AT | A | 3 | a0001c0001t0001g0101a0001c0001t0003g0082a0001c0001t0009g0038 | 3 | HG02818.hp1 HG03130.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.2697+1407delA | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284249 | ||||||
| chr1:196284250
|
T | A | 14 | a0001c0001t0001g0039a0001c0001t0001g0064a0001c0001t0001g0073others(11): Show | 14 | HG01168.hp2 HG01891.hp1 HG02109.hp1 others(11): Show |
intron_variant | MODIFIER | c.2697+1407A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284250 | ||||||
| chr1:196284252
|
T | A | 10 | a0001c0001t0001g0039a0001c0001t0001g0073a0001c0001t0001g0101others(7): Show | 10 | HG02109.hp1 HG02145.hp1 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.2697+1405A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284252 | ||||||
| chr1:196284254
|
T | A | 2 | a0001c0001t0001g0101a0001c0001t0009g0038 | 2 | HG02818.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.2697+1403A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284254 | ||||||
| chr1:196284256
|
T | A | 1 | a0001c0001t0001g0101 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.2697+1401A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284256 | ||||||
| chr1:196284258
|
T | A | 1 | a0001c0001t0001g0101 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.2697+1399A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284258 | ||||||
| chr1:196284260
|
T | A | 1 | a0001c0001t0001g0101 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.2697+1397A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284260 | ||||||
| chr1:196284301
|
C | T | 7 | a0001c0001t0003g0035a0001c0001t0003g0082a0001c0001t0003g0089others(4): Show | 7 | HG02145.hp2 HG02451.hp1 HG02723.hp1 others(4): Show |
intron_variant | MODIFIER | c.2697+1356G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284301 | ||||||
| chr1:196284437
|
C | A | 4 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(1): Show | 4 | HG02622.hp2 HG02965.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.2697+1220G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284437 | ||||||
| chr1:196284440
|
A | T | 73 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(70): Show | 73 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(70): Show |
intron_variant | MODIFIER | c.2697+1217T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196284440 | ||||||
| chr1:196285070
|
C | G | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.2697+587G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | 196285070 | ||||||
| chr1:196285840
|
C | T | 131 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(128): Show | 131 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(128): Show |
intron_variant | MODIFIER | c.2596-82G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196285840 | ||||||
| chr1:196286027
|
C | A | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.2596-269G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196286027 | ||||||
| chr1:196286142
|
G | A | 4 | a0001c0001t0003g0035a0001c0001t0003g0089a0001c0001t0003g0103others(1): Show | 4 | HG02145.hp2 HG02451.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.2596-384C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196286142 | ||||||
| chr1:196286291
|
C | T | 2 | a0001c0001t0001g0039a0001c0001t0009g0038 | 2 | HG03225.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.2596-533G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196286291 | ||||||
| chr1:196286617
|
T | TCA | 2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.2596-861_2596-860d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196286617 | ||||||
| chr1:196286617
|
T | TCACA | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.2596-863_2596-860d others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196286617 | ||||||
| chr1:196286634
|
C | CACACAT | 4 | a0001c0001t0003g0035a0001c0001t0003g0089a0001c0001t0003g0103others(1): Show | 4 | HG02145.hp2 HG02451.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.2596-877_2596-876i others(8): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196286634 | ||||||
| chr1:196286638
|
T | C | 6 | a0001c0001t0003g0035a0001c0001t0003g0082a0001c0001t0003g0089others(3): Show | 6 | HG02145.hp2 HG02165.hp2 HG02451.hp1 others(3): Show |
intron_variant | MODIFIER | c.2596-880A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196286638 | ||||||
| chr1:196286638
|
T | TAC | 7 | a0001c0001t0001g0043a0001c0001t0001g0120a0001c0001t0001g0127others(4): Show | 7 | HG01106.hp1 HG01891.hp1 HG02165.hp1 others(4): Show |
intron_variant | MODIFIER | c.2596-882_2596-881d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196286638 | ||||||
| chr1:196286638
|
T | TACAC | 21 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(18): Show | 21 | HG01109.hp2 HG01261.hp1 HG02280.hp2 others(18): Show |
intron_variant | MODIFIER | c.2596-884_2596-881d others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196286638 | ||||||
| chr1:196286638
|
TAC | T | 16 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(13): Show | 16 | HG02109.hp1 HG02145.hp1 HG02257.hp1 others(13): Show |
intron_variant | MODIFIER | c.2596-882_2596-881d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196286638 | ||||||
| chr1:196286639
|
A | ACACACC | 2 | a0001c0001t0002g0113a0001c0001t0002g0117 | 2 | HG03834.hp2 HG04115.hp1 |
intron_variant | MODIFIER | c.2596-882_2596-881i others(8): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196286639 | ||||||
| chr1:196286640
|
C | T | 1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.2596-882G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196286640 | ||||||
| chr1:196286641
|
A | ACACC | 19 | a0001c0001t0002g0007a0001c0001t0002g0026a0001c0001t0002g0028others(16): Show | 19 | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(16): Show |
intron_variant | MODIFIER | c.2596-884_2596-883i others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196286641 | ||||||
| chr1:196286700
|
G | T | 1 | a0001c0007t0001g0091 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.2596-942C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196286700 | ||||||
| chr1:196287249
|
G | A | 2 | a0001c0001t0001g0046a0001c0001t0001g0075 | 2 | HG03471.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.2596-1491C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196287249 | ||||||
| chr1:196287368
|
G | A | 62 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(59): Show | 62 | HG00323.hp1 HG00639.hp1 HG00735.hp2 others(59): Show |
intron_variant | MODIFIER | c.2596-1610C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196287368 | ||||||
| chr1:196287412
|
T | G | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.2596-1654A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196287412 | ||||||
| chr1:196287440
|
AAAAC | A | 54 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(51): Show | 54 | HG00639.hp1 HG00735.hp1 HG00735.hp2 others(51): Show |
intron_variant | MODIFIER | c.2596-1686_2596-168 others(8): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196287440 | ||||||
| chr1:196287440
|
AAAACAAA others(1): Show |
A | 10 | a0001c0001t0001g0084a0001c0002t0001g0121a0001c0002t0001g0122others(7): Show | 10 | HG00323.hp1 HG01081.hp2 HG02109.hp1 others(7): Show |
intron_variant | MODIFIER | c.2596-1690_2596-168 others(12): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196287440 | ||||||
| chr1:196287556
|
T | C | 2 | a0001c0001t0002g0007a0001c0001t0002g0033 | 2 | HG00735.hp2 HG01106.hp2 |
intron_variant | MODIFIER | c.2596-1798A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196287556 | ||||||
| chr1:196287632
|
T | G | 1 | a0002c0008t0001g0020 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.2596-1874A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196287632 | ||||||
| chr1:196288129
|
A | T | 1 | a0001c0001t0001g0052 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.2596-2371T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196288129 | ||||||
| chr1:196288141
|
T | TAAAAAAT others(1): Show |
71 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(68): Show | 71 | HG00323.hp1 HG00639.hp1 HG00735.hp2 others(68): Show |
intron_variant | MODIFIER | c.2596-2391_2596-238 others(12): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196288141 | ||||||
| chr1:196288626
|
A | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2596-2868T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196288626 | ||||||
| chr1:196288653
|
C | A | 10 | a0001c0001t0003g0035a0001c0001t0003g0082a0001c0001t0003g0089others(7): Show | 10 | HG00323.hp1 HG01081.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.2596-2895G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196288653 | ||||||
| chr1:196289221
|
A | C | 76 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(73): Show | 76 | HG00323.hp1 HG00639.hp1 HG00735.hp2 others(73): Show |
intron_variant | MODIFIER | c.2596-3463T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196289221 | ||||||
| chr1:196289461
|
A | C | 5 | a0001c0001t0002g0048a0001c0001t0002g0049a0001c0001t0002g0050others(2): Show | 5 | HG00639.hp1 HG01074.hp1 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.2596-3703T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196289461 | ||||||
| chr1:196289493
|
A | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2596-3735T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196289493 | ||||||
| chr1:196289576
|
C | T | 3 | a0001c0001t0001g0098a0001c0001t0001g0099a0001c0001t0010g0097 | 3 | HG02572.hp1 HG03471.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.2596-3818G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196289576 | ||||||
| chr1:196289891
|
A | C | 5 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(2): Show | 5 | HG02622.hp2 HG02818.hp1 HG02965.hp1 others(2): Show |
intron_variant | MODIFIER | c.2596-4133T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196289891 | ||||||
| chr1:196290401
|
A | C | 1 | a0001c0001t0002g0114 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.2596-4643T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196290401 | ||||||
| chr1:196290549
|
T | C | 1 | a0001c0001t0001g0129 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.2596-4791A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196290549 | ||||||
| chr1:196290566
|
G | GTA | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.2596-4810_2596-480 others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196290566 | ||||||
| chr1:196290839
|
T | A | 1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.2596-5081A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196290839 | ||||||
| chr1:196290879
|
A | G | 1 | a0001c0001t0003g0089 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.2596-5121T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196290879 | ||||||
| chr1:196290899
|
C | T | 76 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(73): Show | 76 | HG00323.hp1 HG00639.hp1 HG00735.hp2 others(73): Show |
intron_variant | MODIFIER | c.2596-5141G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196290899 | ||||||
| chr1:196291199
|
C | T | 1 | a0001c0001t0001g0065 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.2596-5441G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196291199 | ||||||
| chr1:196291821
|
T | C | 7 | a0001c0001t0003g0035a0001c0001t0003g0082a0001c0001t0003g0089others(4): Show | 7 | HG02145.hp2 HG02451.hp1 HG02723.hp1 others(4): Show |
intron_variant | MODIFIER | c.2596-6063A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196291821 | ||||||
| chr1:196291890
|
G | A | 1 | a0001c0001t0001g0136 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.2596-6132C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196291890 | ||||||
| chr1:196292137
|
C | A | 1 | a0001c0001t0001g0065 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.2596-6379G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196292137 | ||||||
| chr1:196292336
|
C | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2596-6578G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196292336 | ||||||
| chr1:196292339
|
G | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2596-6581C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196292339 | ||||||
| chr1:196292408
|
G | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2596-6650C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196292408 | ||||||
| chr1:196292581
|
C | T | 1 | a0001c0001t0002g0114 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.2596-6823G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196292581 | ||||||
| chr1:196292582
|
G | A | 7 | a0001c0001t0003g0035a0001c0001t0003g0082a0001c0001t0003g0089others(4): Show | 7 | HG02145.hp2 HG02451.hp1 HG02723.hp1 others(4): Show |
intron_variant | MODIFIER | c.2596-6824C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196292582 | ||||||
| chr1:196292663
|
C | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2596-6905G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196292663 | ||||||
| chr1:196292719
|
A | G | 1 | a0001c0001t0001g0072 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.2596-6961T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196292719 | ||||||
| chr1:196292747
|
A | G | 62 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(59): Show | 62 | HG00323.hp1 HG00639.hp1 HG00735.hp2 others(59): Show |
intron_variant | MODIFIER | c.2596-6989T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196292747 | ||||||
| chr1:196292811
|
CA | C | 42 | a0001c0001t0001g0018a0001c0001t0001g0027a0001c0001t0001g0036others(39): Show | 42 | HG00140.hp1 HG00323.hp2 HG00673.hp1 others(39): Show |
intron_variant | MODIFIER | c.2596-7054delT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196292811 | ||||||
| chr1:196292811
|
CAA | C | 37 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(34): Show | 37 | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(34): Show |
intron_variant | MODIFIER | c.2596-7055_2596-705 others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196292811 | ||||||
| chr1:196292811
|
CAAA | C | 5 | a0001c0003t0001g0108a0001c0003t0001g0109a0001c0003t0001g0111others(2): Show | 5 | HG01891.hp1 HG02280.hp2 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.2596-7056_2596-705 others(7): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196292811 | ||||||
| chr1:196292811
|
CAAAAA | C | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.2596-7058_2596-705 others(9): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196292811 | ||||||
| chr1:196292920
|
A | G | 1 | a0001c0001t0001g0072 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.2596-7162T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196292920 | ||||||
| chr1:196293010
|
C | A | 1 | a0001c0001t0009g0038 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.2596-7252G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196293010 | ||||||
| chr1:196293031
|
T | TA | 6 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0003t0001g0108others(3): Show | 6 | HG02280.hp2 HG02622.hp2 HG02965.hp1 others(3): Show |
intron_variant | MODIFIER | c.2596-7274dupT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196293031 | ||||||
| chr1:196293324
|
A | G | 15 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(12): Show | 15 | HG01109.hp2 HG01261.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.2596-7566T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196293324 | ||||||
| chr1:196293393
|
C | G | 1 | a0001c0001t0002g0115 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.2596-7635G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196293393 | ||||||
| chr1:196293464
|
C | G | 2 | a0001c0002t0001g0124a0001c0002t0001g0126 | 2 | HG02109.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.2596-7706G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196293464 | ||||||
| chr1:196293467
|
T | C | 7 | a0001c0001t0001g0036a0001c0001t0001g0086a0001c0001t0001g0087others(4): Show | 7 | HG02258.hp1 HG02723.hp2 HG03209.hp2 others(4): Show |
intron_variant | MODIFIER | c.2596-7709A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196293467 | ||||||
| chr1:196293494
|
A | C | 2 | a0001c0002t0001g0124a0001c0002t0001g0126 | 2 | HG02109.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.2596-7736T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196293494 | ||||||
| chr1:196293511
|
C | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2596-7753G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196293511 | ||||||
| chr1:196293617
|
ATTGGACC others(24): Show |
A | 21 | a0001c0001t0002g0007a0001c0001t0002g0026a0001c0001t0002g0028others(18): Show | 21 | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(18): Show |
intron_variant | MODIFIER | c.2596-7890_2596-786 others(35): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196293617 | ||||||
| chr1:196293668
|
A | T | 1 | a0001c0001t0001g0004 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.2596-7910T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196293668 | ||||||
| chr1:196293859
|
CA | C | 62 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(59): Show | 62 | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(59): Show |
intron_variant | MODIFIER | c.2596-8102delT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196293859 | ||||||
| chr1:196293859
|
CAA | C | 6 | a0001c0001t0001g0039a0001c0001t0001g0093a0001c0003t0001g0108others(3): Show | 6 | HG02280.hp2 HG02818.hp2 HG03486.hp2 others(3): Show |
intron_variant | MODIFIER | c.2596-8103_2596-810 others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196293859 | ||||||
| chr1:196293866
|
A | C | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2596-8108T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196293866 | ||||||
| chr1:196293873
|
A | C | 1 | a0001c0001t0001g0092 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.2596-8115T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196293873 | ||||||
| chr1:196293874
|
C | A | 1 | a0001c0001t0001g0092 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.2596-8116G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196293874 | ||||||
| chr1:196293882
|
C | A | 1 | a0001c0001t0001g0037 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2596-8124G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196293882 | ||||||
| chr1:196293900
|
A | G | 1 | a0001c0001t0002g0026 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.2596-8142T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196293900 | ||||||
| chr1:196293906
|
C | T | 2 | a0001c0001t0001g0039a0001c0001t0009g0038 | 2 | HG03225.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.2596-8148G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196293906 | ||||||
| chr1:196293972
|
C | A | 1 | a0001c0001t0001g0037 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2596-8214G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196293972 | ||||||
| chr1:196294039
|
A | G | 1 | a0001c0001t0003g0035 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2596-8281T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196294039 | ||||||
| chr1:196294106
|
C | A | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.2596-8348G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196294106 | ||||||
| chr1:196294338
|
C | T | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.2596-8580G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196294338 | ||||||
| chr1:196294468
|
G | T | 1 | a0001c0001t0001g0046 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.2596-8710C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196294468 | ||||||
| chr1:196294517
|
A | G | 78 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(75): Show | 78 | HG00323.hp1 HG00639.hp1 HG00735.hp2 others(75): Show |
intron_variant | MODIFIER | c.2596-8759T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196294517 | ||||||
| chr1:196294792
|
G | GAT | 10 | a0001c0001t0001g0024a0001c0001t0001g0027a0001c0001t0001g0042others(7): Show | 10 | HG00673.hp1 HG02293.hp2 HG02630.hp2 others(7): Show |
intron_variant | MODIFIER | c.2596-9036_2596-903 others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196294792 | ||||||
| chr1:196294808
|
T | C | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.2596-9050A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196294808 | ||||||
| chr1:196294906
|
G | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2596-9148C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196294906 | ||||||
| chr1:196295228
|
G | T | 1 | a0001c0001t0007g0119 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.2596-9470C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196295228 | ||||||
| chr1:196295332
|
T | C | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2596-9574A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196295332 | ||||||
| chr1:196295396
|
T | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2596-9638A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196295396 | ||||||
| chr1:196295399
|
G | A | 1 | a0001c0001t0001g0075 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2596-9641C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196295399 | ||||||
| chr1:196295477
|
CA | C | 7 | a0001c0001t0003g0035a0001c0001t0003g0082a0001c0001t0003g0089others(4): Show | 7 | HG02145.hp2 HG02451.hp1 HG02723.hp1 others(4): Show |
intron_variant | MODIFIER | c.2596-9720delT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196295477 | ||||||
| chr1:196295852
|
A | G | 1 | a0001c0001t0002g0032 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.2595+9382T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196295852 | ||||||
| chr1:196295948
|
G | A | 5 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(2): Show | 5 | HG02622.hp2 HG02818.hp1 HG02965.hp1 others(2): Show |
intron_variant | MODIFIER | c.2595+9286C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196295948 | ||||||
| chr1:196296026
|
C | T | 1 | a0001c0003t0001g0111 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.2595+9208G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196296026 | ||||||
| chr1:196296134
|
C | A | 1 | a0001c0001t0003g0082 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.2595+9100G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196296134 | ||||||
| chr1:196296141
|
A | C | 1 | a0001c0001t0001g0070 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.2595+9093T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196296141 | ||||||
| chr1:196296315
|
CATACTTT others(27): Show |
C | 2 | a0001c0001t0002g0115a0001c0001t0002g0116 | 2 | HG02258.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.2595+8885_2595+891 others(38): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196296315 | ||||||
| chr1:196296415
|
T | A | 2 | a0001c0001t0001g0006a0001c0001t0001g0025 | 2 | HG01358.hp2 HG03834.hp1 |
intron_variant | MODIFIER | c.2595+8819A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196296415 | ||||||
| chr1:196296423
|
C | T | 2 | a0001c0001t0002g0115a0001c0001t0002g0116 | 2 | HG02258.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.2595+8811G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196296423 | ||||||
| chr1:196296494
|
C | G | 1 | a0001c0003t0008g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.2595+8740G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196296494 | ||||||
| chr1:196296497
|
A | G | 2 | a0001c0001t0001g0127a0001c0001t0001g0128 | 2 | HG02809.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.2595+8737T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196296497 | ||||||
| chr1:196297101
|
A | C | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2595+8133T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196297101 | ||||||
| chr1:196297252
|
C | T | 62 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(59): Show | 62 | HG00323.hp1 HG00639.hp1 HG00735.hp2 others(59): Show |
intron_variant | MODIFIER | c.2595+7982G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196297252 | ||||||
| chr1:196297311
|
C | G | 3 | a0001c0001t0001g0017a0001c0001t0001g0019a0001c0001t0001g0021 | 3 | HG00140.hp2 HG00639.hp2 HG01074.hp2 |
intron_variant | MODIFIER | c.2595+7923G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196297311 | ||||||
| chr1:196297967
|
C | A | 1 | a0001c0001t0001g0055 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.2595+7267G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196297967 | ||||||
| chr1:196298097
|
G | A | 1 | a0001c0003t0008g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.2595+7137C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196298097 | ||||||
| chr1:196298097
|
G | T | 1 | a0001c0001t0001g0037 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2595+7137C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196298097 | ||||||
| chr1:196298149
|
G | A | 1 | a0001c0001t0002g0114 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.2595+7085C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196298149 | ||||||
| chr1:196298168
|
T | C | 1 | a0001c0001t0003g0082 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.2595+7066A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196298168 | ||||||
| chr1:196298183
|
C | T | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.2595+7051G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196298183 | ||||||
| chr1:196298250
|
G | A | 4 | a0001c0001t0003g0035a0001c0001t0003g0089a0001c0001t0003g0103others(1): Show | 4 | HG02145.hp2 HG02451.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.2595+6984C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196298250 | ||||||
| chr1:196298402
|
A | G | 1 | a0001c0001t0001g0017 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.2595+6832T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196298402 | ||||||
| chr1:196298749
|
C | T | 1 | a0001c0001t0001g0071 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.2595+6485G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196298749 | ||||||
| chr1:196298856
|
A | G | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.2595+6378T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196298856 | ||||||
| chr1:196298886
|
C | A | 2 | a0001c0001t0002g0030a0001c0001t0002g0031 | 2 | HG00741.hp1 HG01168.hp1 |
intron_variant | MODIFIER | c.2595+6348G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196298886 | ||||||
| chr1:196299607
|
C | A | 1 | a0001c0001t0010g0097 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.2595+5627G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196299607 | ||||||
| chr1:196299674
|
A | C | 1 | a0001c0002t0001g0123 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.2595+5560T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196299674 | ||||||
| chr1:196299686
|
C | A | 1 | a0001c0001t0002g0032 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.2595+5548G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196299686 | ||||||
| chr1:196299712
|
A | G | 1 | a0001c0001t0001g0075 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2595+5522T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196299712 | ||||||
| chr1:196299754
|
C | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2595+5480G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196299754 | ||||||
| chr1:196299757
|
C | G | 4 | a0001c0003t0001g0108a0001c0003t0001g0109a0001c0003t0001g0111others(1): Show | 4 | HG02280.hp2 NA18522.hp2 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.2595+5477G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196299757 | ||||||
| chr1:196299773
|
T | C | 1 | a0001c0001t0001g0107 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.2595+5461A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196299773 | ||||||
| chr1:196299850
|
A | G | 1 | a0001c0001t0001g0055 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.2595+5384T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196299850 | ||||||
| chr1:196300040
|
G | A | 7 | a0001c0001t0003g0035a0001c0001t0003g0082a0001c0001t0003g0089others(4): Show | 7 | HG02145.hp2 HG02451.hp1 HG02723.hp1 others(4): Show |
intron_variant | MODIFIER | c.2595+5194C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196300040 | ||||||
| chr1:196300412
|
C | G | 4 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(1): Show | 4 | HG02717.hp2 HG02895.hp2 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.2595+4822G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196300412 | ||||||
| chr1:196300482
|
C | T | 7 | a0001c0001t0003g0035a0001c0001t0003g0082a0001c0001t0003g0089others(4): Show | 7 | HG02145.hp2 HG02451.hp1 HG02723.hp1 others(4): Show |
intron_variant | MODIFIER | c.2595+4752G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196300482 | ||||||
| chr1:196300935
|
G | A | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.2595+4299C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196300935 | ||||||
| chr1:196301004
|
A | G | 1 | a0001c0001t0003g0089 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.2595+4230T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196301004 | ||||||
| chr1:196301136
|
A | G | 1 | a0001c0006t0001g0061 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2595+4098T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196301136 | ||||||
| chr1:196301196
|
C | T | 1 | a0001c0001t0001g0045 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.2595+4038G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196301196 | ||||||
| chr1:196301263
|
G | A | 1 | a0001c0001t0001g0046 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.2595+3971C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196301263 | ||||||
| chr1:196301410
|
C | T | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.2595+3824G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196301410 | ||||||
| chr1:196301542
|
A | G | 1 | a0002c0008t0001g0020 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.2595+3692T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196301542 | ||||||
| chr1:196301639
|
T | A | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.2595+3595A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196301639 | ||||||
| chr1:196301776
|
G | A | 2 | a0001c0001t0001g0027a0001c0001t0001g0072 | 2 | HG00673.hp1 NA18984.hp1 |
intron_variant | MODIFIER | c.2595+3458C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196301776 | ||||||
| chr1:196301931
|
G | C | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.2595+3303C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196301931 | ||||||
| chr1:196301962
|
A | T | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.2595+3272T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196301962 | ||||||
| chr1:196301971
|
T | C | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2595+3263A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196301971 | ||||||
| chr1:196302139
|
G | T | 2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.2595+3095C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196302139 | ||||||
| chr1:196302164
|
A | T | 41 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(38): Show | 41 | HG00323.hp1 HG01081.hp2 HG01109.hp2 others(38): Show |
intron_variant | MODIFIER | c.2595+3070T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196302164 | ||||||
| chr1:196302345
|
A | T | 2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.2595+2889T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196302345 | ||||||
| chr1:196302985
|
C | T | 1 | a0001c0001t0001g0075 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2595+2249G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196302985 | ||||||
| chr1:196303000
|
A | G | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.2595+2234T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196303000 | ||||||
| chr1:196303014
|
TA | T | 13 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(10): Show | 13 | HG00323.hp1 HG01081.hp2 HG02257.hp1 others(10): Show |
intron_variant | MODIFIER | c.2595+2219delT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196303014 | ||||||
| chr1:196303580
|
G | A | 71 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(68): Show | 71 | HG00323.hp1 HG00639.hp1 HG00735.hp2 others(68): Show |
intron_variant | MODIFIER | c.2595+1654C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196303580 | ||||||
| chr1:196303702
|
A | G | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.2595+1532T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196303702 | ||||||
| chr1:196303787
|
T | C | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2595+1447A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196303787 | ||||||
| chr1:196303804
|
T | A | 1 | a0001c0001t0001g0018 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.2595+1430A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196303804 | ||||||
| chr1:196304261
|
T | G | 5 | a0001c0003t0001g0108a0001c0003t0001g0109a0001c0003t0001g0111others(2): Show | 5 | HG01891.hp1 HG02280.hp2 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.2595+973A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196304261 | ||||||
| chr1:196304328
|
T | A | 1 | a0001c0001t0001g0052 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.2595+906A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196304328 | ||||||
| chr1:196304516
|
G | C | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2595+718C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196304516 | ||||||
| chr1:196304534
|
G | C | 21 | a0001c0001t0002g0007a0001c0001t0002g0026a0001c0001t0002g0028others(18): Show | 21 | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(18): Show |
intron_variant | MODIFIER | c.2595+700C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196304534 | ||||||
| chr1:196304542
|
C | A | 2 | a0001c0001t0001g0008a0001c0001t0001g0009 | 2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.2595+692G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196304542 | ||||||
| chr1:196304813
|
C | G | 1 | a0001c0001t0001g0018 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.2595+421G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | 196304813 | ||||||
| chr1:196305634
|
T | C | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.2484-289A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196305634 | ||||||
| chr1:196305706
|
G | A | 1 | a0001c0001t0001g0102 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2484-361C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196305706 | ||||||
| chr1:196305749
|
T | C | 1 | a0001c0001t0001g0003 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.2484-404A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196305749 | ||||||
| chr1:196305786
|
T | C | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.2484-441A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196305786 | ||||||
| chr1:196305995
|
T | C | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2484-650A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196305995 | ||||||
| chr1:196306365
|
G | A | 1 | a0001c0001t0001g0063 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.2484-1020C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196306365 | ||||||
| chr1:196306988
|
G | T | 2 | a0001c0001t0002g0113a0001c0001t0002g0117 | 2 | HG03834.hp2 HG04115.hp1 |
intron_variant | MODIFIER | c.2484-1643C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196306988 | ||||||
| chr1:196307044
|
C | T | 1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.2484-1699G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196307044 | ||||||
| chr1:196307296
|
C | T | 2 | a0001c0001t0001g0060a0001c0001t0001g0078 | 2 | NA18984.hp2 NA18988.hp1 |
intron_variant | MODIFIER | c.2484-1951G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196307296 | ||||||
| chr1:196307614
|
A | G | 21 | a0001c0001t0002g0007a0001c0001t0002g0026a0001c0001t0002g0028others(18): Show | 21 | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(18): Show |
intron_variant | MODIFIER | c.2484-2269T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196307614 | ||||||
| chr1:196307701
|
T | C | 2 | a0001c0001t0001g0006a0001c0001t0001g0023 | 2 | HG03492.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.2484-2356A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196307701 | ||||||
| chr1:196308159
|
CT | C | 4 | a0001c0001t0001g0043a0001c0001t0001g0054a0001c0001t0001g0064others(1): Show | 4 | HG01106.hp1 HG01168.hp2 HG01496.hp2 others(1): Show |
intron_variant | MODIFIER | c.2484-2815delA | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196308159 | ||||||
| chr1:196308228
|
G | T | 1 | a0001c0001t0001g0092 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.2484-2883C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196308228 | ||||||
| chr1:196308641
|
G | A | 1 | a0001c0001t0002g0113 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.2484-3296C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196308641 | ||||||
| chr1:196308792
|
G | A | 18 | a0001c0001t0002g0007a0001c0001t0002g0028a0001c0001t0002g0029others(15): Show | 18 | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(15): Show |
intron_variant | MODIFIER | c.2484-3447C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196308792 | ||||||
| chr1:196308792
|
G | C | 3 | a0001c0001t0002g0026a0001c0001t0002g0115a0001c0001t0002g0116 | 3 | HG01175.hp1 HG02258.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.2484-3447C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196308792 | ||||||
| chr1:196308929
|
A | C | 1 | a0001c0001t0002g0116 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.2484-3584T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196308929 | ||||||
| chr1:196308930
|
G | A | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.2484-3585C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196308930 | ||||||
| chr1:196309095
|
C | T | 1 | a0001c0001t0001g0003 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.2484-3750G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196309095 | ||||||
| chr1:196309198
|
G | A | 1 | a0001c0001t0003g0035 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2484-3853C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196309198 | ||||||
| chr1:196309369
|
A | G | 2 | a0001c0001t0001g0043a0001c0001t0001g0054 | 2 | HG01106.hp1 HG01496.hp2 |
intron_variant | MODIFIER | c.2484-4024T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196309369 | ||||||
| chr1:196309717
|
A | G | 5 | a0001c0003t0001g0108a0001c0003t0001g0109a0001c0003t0001g0111others(2): Show | 5 | HG01891.hp1 HG02280.hp2 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.2484-4372T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196309717 | ||||||
| chr1:196310097
|
C | T | 14 | a0001c0001t0002g0007a0001c0001t0002g0028a0001c0001t0002g0029others(11): Show | 14 | HG00735.hp2 HG00741.hp1 HG01106.hp2 others(11): Show |
intron_variant | MODIFIER | c.2484-4752G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196310097 | ||||||
| chr1:196310158
|
C | T | 1 | a0001c0001t0001g0037 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2484-4813G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196310158 | ||||||
| chr1:196310207
|
G | C | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.2484-4862C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196310207 | ||||||
| chr1:196310765
|
T | C | 1 | a0001c0001t0001g0058 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.2483+5127A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196310765 | ||||||
| chr1:196310989
|
C | T | 8 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(5): Show | 8 | HG02257.hp1 HG02630.hp1 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.2483+4903G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196310989 | ||||||
| chr1:196310990
|
G | A | 1 | a0001c0002t0001g0122 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.2483+4902C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196310990 | ||||||
| chr1:196311120
|
T | A | 5 | a0001c0001t0003g0035a0001c0001t0003g0082a0001c0001t0003g0104others(2): Show | 5 | HG02145.hp2 HG02451.hp1 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.2483+4772A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196311120 | ||||||
| chr1:196311159
|
C | T | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.2483+4733G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196311159 | ||||||
| chr1:196311255
|
G | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2483+4637C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196311255 | ||||||
| chr1:196311322
|
C | T | 1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.2483+4570G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196311322 | ||||||
| chr1:196311448
|
T | C | 1 | a0001c0001t0001g0039 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.2483+4444A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196311448 | ||||||
| chr1:196311486
|
C | T | 1 | a0001c0001t0001g0013 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2483+4406G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196311486 | ||||||
| chr1:196311633
|
C | T | 3 | a0001c0001t0001g0098a0001c0001t0001g0099a0001c0001t0010g0097 | 3 | HG02572.hp1 HG03471.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.2483+4259G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196311633 | ||||||
| chr1:196311634
|
T | G | 15 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(12): Show | 15 | HG01109.hp2 HG01261.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.2483+4258A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196311634 | ||||||
| chr1:196311675
|
C | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2483+4217G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196311675 | ||||||
| chr1:196311752
|
T | G | 1 | a0001c0001t0001g0010 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.2483+4140A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196311752 | ||||||
| chr1:196311754
|
C | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2483+4138G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196311754 | ||||||
| chr1:196312100
|
A | G | 1 | a0001c0001t0003g0104 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.2483+3792T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196312100 | ||||||
| chr1:196312153
|
T | C | 1 | a0001c0001t0001g0039 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.2483+3739A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196312153 | ||||||
| chr1:196312190
|
G | A | 1 | a0001c0001t0001g0088 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.2483+3702C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196312190 | ||||||
| chr1:196312672
|
T | C | 35 | a0001c0001t0001g0018a0001c0001t0001g0024a0001c0001t0001g0027others(32): Show | 35 | HG00140.hp1 HG00323.hp2 HG00673.hp1 others(32): Show |
intron_variant | MODIFIER | c.2483+3220A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196312672 | ||||||
| chr1:196313150
|
G | T | 5 | a0001c0001t0003g0035a0001c0001t0003g0082a0001c0001t0003g0104others(2): Show | 5 | HG02145.hp2 HG02451.hp1 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.2483+2742C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196313150 | ||||||
| chr1:196313232
|
T | C | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.2483+2660A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196313232 | ||||||
| chr1:196313313
|
G | A | 2 | a0001c0001t0001g0024a0001c0001t0001g0074 | 2 | NA18990.hp1 NA18990.hp2 |
intron_variant | MODIFIER | c.2483+2579C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196313313 | ||||||
| chr1:196313328
|
G | A | 2 | a0001c0001t0002g0028a0001c0001t0002g0029 | 2 | NA19009.hp2 NA19062.hp2 |
intron_variant | MODIFIER | c.2483+2564C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196313328 | ||||||
| chr1:196313358
|
G | A | 2 | a0001c0001t0001g0058a0001c0001t0001g0063 | 2 | HG00140.hp1 HG00741.hp2 |
intron_variant | MODIFIER | c.2483+2534C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196313358 | ||||||
| chr1:196313491
|
T | G | 15 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(12): Show | 15 | HG01109.hp2 HG01261.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.2483+2401A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196313491 | ||||||
| chr1:196313518
|
G | T | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.2483+2374C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196313518 | ||||||
| chr1:196313641
|
G | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2483+2251C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196313641 | ||||||
| chr1:196313690
|
A | G | 4 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(1): Show | 4 | HG02717.hp2 HG02895.hp2 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.2483+2202T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196313690 | ||||||
| chr1:196313827
|
A | G | 60 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(57): Show | 60 | HG00323.hp1 HG00639.hp1 HG00735.hp2 others(57): Show |
intron_variant | MODIFIER | c.2483+2065T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196313827 | ||||||
| chr1:196313843
|
G | C | 1 | a0001c0001t0001g0062 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.2483+2049C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196313843 | ||||||
| chr1:196314328
|
A | G | 15 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(12): Show | 15 | HG01109.hp2 HG01261.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.2483+1564T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196314328 | ||||||
| chr1:196315456
|
G | T | 1 | a0001c0001t0006g0001 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.2483+436C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196315456 | ||||||
| chr1:196315460
|
T | C | 1 | a0001c0001t0003g0104 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.2483+432A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196315460 | ||||||
| chr1:196315559
|
C | T | 9 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(6): Show | 9 | HG02257.hp1 HG02630.hp1 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.2483+333G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196315559 | ||||||
| chr1:196315578
|
G | A | 2 | a0001c0001t0001g0090a0001c0001t0001g0095 | 2 | HG02258.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.2483+314C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196315578 | ||||||
| chr1:196315682
|
G | T | 20 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(17): Show | 20 | HG01109.hp2 HG01261.hp1 HG02145.hp2 others(17): Show |
intron_variant | MODIFIER | c.2483+210C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196315682 | ||||||
| chr1:196315695
|
C | G | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.2483+197G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 21/27 | chr1 | 196315695 | ||||||
| chr1:196316035
|
A | T | 2 | a0001c0001t0001g0008a0001c0001t0001g0009 | 2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.2349-9T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 20/27 | chr1 | 196316035 | ||||||
| chr1:196316439
|
A | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2349-413T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 20/27 | chr1 | 196316439 | ||||||
| chr1:196316476
|
A | G | 1 | a0001c0001t0001g0018 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.2349-450T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 20/27 | chr1 | 196316476 | ||||||
| chr1:196316507
|
T | A | 1 | a0001c0001t0009g0038 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.2349-481A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 20/27 | chr1 | 196316507 | ||||||
| chr1:196316677
|
T | C | 3 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012 | 3 | HG02717.hp1 HG02886.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.2349-651A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 20/27 | chr1 | 196316677 | ||||||
| chr1:196316878
|
A | G | 1 | a0001c0003t0001g0111 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.2349-852T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 20/27 | chr1 | 196316878 | ||||||
| chr1:196316989
|
T | C | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.2349-963A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 20/27 | chr1 | 196316989 | ||||||
| chr1:196317509
|
A | G | 5 | a0001c0003t0001g0108a0001c0003t0001g0109a0001c0003t0001g0111others(2): Show | 5 | HG01891.hp1 HG02280.hp2 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.2349-1483T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 20/27 | chr1 | 196317509 | ||||||
| chr1:196317644
|
G | A | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.2349-1618C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 20/27 | chr1 | 196317644 | ||||||
| chr1:196318250
|
T | G | 1 | a0001c0002t0001g0124 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.2348+1234A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 20/27 | chr1 | 196318250 | ||||||
| chr1:196318908
|
G | A | 1 | a0001c0001t0001g0071 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.2348+576C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 20/27 | chr1 | 196318908 | ||||||
| chr1:196319008
|
C | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2348+476G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 20/27 | chr1 | 196319008 | ||||||
| chr1:196319060
|
T | G | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.2348+424A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 20/27 | chr1 | 196319060 | ||||||
| chr1:196319219
|
G | A | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.2348+265C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 20/27 | chr1 | 196319219 | ||||||
| chr1:196319596
|
A | T | 1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.2277-41T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | 196319596 | ||||||
| chr1:196320087
|
G | T | 1 | a0001c0001t0001g0130 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2277-532C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | 196320087 | ||||||
| chr1:196320143
|
C | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2277-588G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | 196320143 | ||||||
| chr1:196320243
|
T | A | 1 | a0001c0007t0001g0091 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.2277-688A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | 196320243 | ||||||
| chr1:196320299
|
A | G | 1 | a0001c0001t0002g0051 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.2277-744T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | 196320299 | ||||||
| chr1:196320531
|
G | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2277-976C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | 196320531 | ||||||
| chr1:196320713
|
G | GA | 12 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(9): Show | 12 | HG01261.hp1 HG02572.hp1 HG02717.hp1 others(9): Show |
intron_variant | MODIFIER | c.2277-1159dupT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | 196320713 | ||||||
| chr1:196320829
|
T | C | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.2277-1274A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | 196320829 | ||||||
| chr1:196320962
|
G | A | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.2277-1407C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | 196320962 | ||||||
| chr1:196320997
|
A | ATT | 19 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(16): Show | 19 | HG01109.hp2 HG01261.hp1 HG02451.hp1 others(16): Show |
intron_variant | MODIFIER | c.2277-1444_2277-144 others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | 196320997 | ||||||
| chr1:196321025
|
T | C | 19 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(16): Show | 19 | HG01109.hp2 HG01261.hp1 HG02451.hp1 others(16): Show |
intron_variant | MODIFIER | c.2277-1470A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | 196321025 | ||||||
| chr1:196321268
|
G | A | 1 | a0001c0001t0001g0063 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.2277-1713C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | 196321268 | ||||||
| chr1:196321622
|
C | T | 1 | a0001c0001t0002g0026 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.2277-2067G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | 196321622 | ||||||
| chr1:196321688
|
C | T | 1 | a0001c0001t0005g0106 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.2277-2133G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | 196321688 | ||||||
| chr1:196321701
|
T | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2277-2146A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | 196321701 | ||||||
| chr1:196322144
|
A | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2277-2589T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | 196322144 | ||||||
| chr1:196322235
|
T | G | 15 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(12): Show | 15 | HG01109.hp2 HG01261.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.2277-2680A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | 196322235 | ||||||
| chr1:196322477
|
T | C | 7 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(4): Show | 7 | HG02622.hp2 HG02723.hp1 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.2277-2922A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | 196322477 | ||||||
| chr1:196322762
|
C | T | 2 | a0001c0001t0002g0030a0001c0001t0002g0031 | 2 | HG00741.hp1 HG01168.hp1 |
intron_variant | MODIFIER | c.2277-3207G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | 196322762 | ||||||
| chr1:196322834
|
A | G | 2 | a0001c0001t0001g0043a0001c0001t0001g0054 | 2 | HG01106.hp1 HG01496.hp2 |
intron_variant | MODIFIER | c.2277-3279T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | 196322834 | ||||||
| chr1:196322847
|
T | C | 15 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(12): Show | 15 | HG01109.hp2 HG01261.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.2277-3292A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | 196322847 | ||||||
| chr1:196322991
|
A | G | 1 | a0001c0002t0001g0122 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.2277-3436T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | 196322991 | ||||||
| chr1:196323046
|
A | T | 21 | a0001c0001t0002g0007a0001c0001t0002g0026a0001c0001t0002g0028others(18): Show | 21 | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(18): Show |
intron_variant | MODIFIER | c.2277-3491T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | 196323046 | ||||||
| chr1:196323336
|
T | C | 1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.2276+3381A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | 196323336 | ||||||
| chr1:196323448
|
T | A | 1 | a0001c0001t0002g0118 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.2276+3269A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | 196323448 | ||||||
| chr1:196323529
|
C | T | 19 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(16): Show | 19 | HG01109.hp2 HG01261.hp1 HG02451.hp1 others(16): Show |
intron_variant | MODIFIER | c.2276+3188G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | 196323529 | ||||||
| chr1:196323546
|
TC | T | 5 | a0001c0003t0001g0108a0001c0003t0001g0109a0001c0003t0001g0111others(2): Show | 5 | HG01891.hp1 HG02280.hp2 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.2276+3170delG | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | 196323546 | ||||||
| chr1:196323956
|
C | A | 1 | a0001c0001t0001g0044 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.2276+2761G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | 196323956 | ||||||
| chr1:196323964
|
T | TA | 5 | a0001c0002t0001g0121a0001c0002t0001g0123a0001c0002t0001g0124others(2): Show | 5 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.2276+2752dupT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | 196323964 | ||||||
| chr1:196324059
|
C | A | 2 | a0001c0001t0001g0093a0001c0001t0001g0094 | 2 | HG02818.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.2276+2658G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | 196324059 | ||||||
| chr1:196324248
|
C | T | 1 | a0001c0003t0008g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.2276+2469G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | 196324248 | ||||||
| chr1:196324309
|
AT | A | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.2276+2407delA | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | 196324309 | ||||||
| chr1:196324592
|
A | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2276+2125T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | 196324592 | ||||||
| chr1:196324631
|
T | C | 1 | a0001c0001t0001g0013 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2276+2086A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | 196324631 | ||||||
| chr1:196324839
|
C | A | 1 | a0001c0001t0001g0084 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.2276+1878G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | 196324839 | ||||||
| chr1:196325053
|
G | T | 2 | a0001c0001t0001g0039a0001c0001t0009g0038 | 2 | HG03225.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.2276+1664C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | 196325053 | ||||||
| chr1:196325627
|
T | C | 2 | a0001c0001t0002g0113a0001c0001t0002g0117 | 2 | HG03834.hp2 HG04115.hp1 |
intron_variant | MODIFIER | c.2276+1090A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | 196325627 | ||||||
| chr1:196325756
|
A | G | 1 | a0001c0001t0001g0101 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.2276+961T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | 196325756 | ||||||
| chr1:196325824
|
G | C | 1 | a0001c0001t0001g0094 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.2276+893C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | 196325824 | ||||||
| chr1:196325840
|
A | T | 1 | a0001c0001t0010g0097 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.2276+877T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | 196325840 | ||||||
| chr1:196325893
|
C | T | 1 | a0001c0001t0001g0129 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.2276+824G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | 196325893 | ||||||
| chr1:196326106
|
G | A | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.2276+611C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | 196326106 | ||||||
| chr1:196326598
|
G | GTACCATA others(2): Show |
5 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0095others(2): Show | 5 | HG01109.hp2 HG02818.hp2 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.2276+110_2276+118d others(11): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | 196326598 | ||||||
| chr1:196327152
|
T | C | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2104-263A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196327152 | ||||||
| chr1:196327668
|
C | CTTTTTTT others(3): Show |
7 | a0001c0001t0001g0039a0001c0001t0009g0038a0001c0003t0001g0108others(4): Show | 7 | HG01891.hp1 HG02280.hp2 HG03225.hp2 others(4): Show |
intron_variant | MODIFIER | c.2104-789_2104-780d others(12): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196327668 | ||||||
| chr1:196327668
|
C | CTTTTTTT others(4): Show |
22 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0071others(19): Show | 22 | HG01109.hp2 HG01261.hp1 HG02109.hp1 others(19): Show |
intron_variant | MODIFIER | c.2104-790_2104-780d others(13): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196327668 | ||||||
| chr1:196327668
|
C | CTTTTTTT others(5): Show |
3 | a0001c0001t0001g0004a0001c0001t0001g0095a0001c0001t0005g0100 | 3 | HG03139.hp2 HG03516.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.2104-791_2104-780d others(14): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196327668 | ||||||
| chr1:196327706
|
G | T | 1 | a0001c0002t0001g0122 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.2104-817C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196327706 | ||||||
| chr1:196327731
|
A | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2104-842T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196327731 | ||||||
| chr1:196327858
|
G | A | 8 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(5): Show | 8 | HG02257.hp1 HG02630.hp1 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.2104-969C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196327858 | ||||||
| chr1:196327861
|
T | C | 2 | a0001c0001t0002g0115a0001c0001t0002g0116 | 2 | HG02258.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.2104-972A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196327861 | ||||||
| chr1:196327918
|
C | T | 19 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(16): Show | 19 | HG01109.hp2 HG01261.hp1 HG02451.hp1 others(16): Show |
intron_variant | MODIFIER | c.2104-1029G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196327918 | ||||||
| chr1:196328053
|
A | C | 1 | a0001c0002t0001g0122 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.2104-1164T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196328053 | ||||||
| chr1:196328158
|
G | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.2104-1269C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196328158 | ||||||
| chr1:196328287
|
G | A | 1 | a0001c0001t0002g0118 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.2104-1398C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196328287 | ||||||
| chr1:196328633
|
G | GA | 14 | a0001c0001t0001g0073a0001c0001t0001g0086a0001c0001t0002g0007others(11): Show | 14 | HG00735.hp2 HG00741.hp1 HG01106.hp2 others(11): Show |
intron_variant | MODIFIER | c.2104-1745dupT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196328633 | ||||||
| chr1:196328633
|
GA | G | 7 | a0001c0001t0001g0075a0001c0003t0001g0108a0001c0003t0001g0109others(4): Show | 7 | HG01891.hp1 HG02280.hp1 HG02280.hp2 others(4): Show |
intron_variant | MODIFIER | c.2104-1745delT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196328633 | ||||||
| chr1:196328742
|
T | A | 2 | a0001c0002t0001g0124a0001c0002t0001g0126 | 2 | HG02109.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.2104-1853A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196328742 | ||||||
| chr1:196328745
|
C | T | 2 | a0001c0001t0003g0035a0001c0001t0003g0082 | 2 | HG02451.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.2104-1856G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196328745 | ||||||
| chr1:196328798
|
G | A | 1 | a0001c0001t0003g0082 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.2104-1909C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196328798 | ||||||
| chr1:196328815
|
G | A | 2 | a0001c0001t0001g0039a0001c0001t0009g0038 | 2 | HG03225.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.2104-1926C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196328815 | ||||||
| chr1:196329231
|
T | A | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.2103+1925A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196329231 | ||||||
| chr1:196329266
|
T | C | 8 | a0001c0001t0002g0007a0001c0001t0002g0028a0001c0001t0002g0029others(5): Show | 8 | HG00735.hp2 HG00741.hp1 HG01106.hp2 others(5): Show |
intron_variant | MODIFIER | c.2103+1890A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196329266 | ||||||
| chr1:196329659
|
T | A | 4 | a0001c0003t0001g0108a0001c0003t0001g0109a0001c0003t0001g0111others(1): Show | 4 | HG02280.hp2 NA18522.hp2 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.2103+1497A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196329659 | ||||||
| chr1:196329765
|
G | A | 4 | a0001c0003t0008g0081a0001c0004t0004g0002a0001c0004t0004g0132others(1): Show | 4 | HG00323.hp1 HG01081.hp2 HG01891.hp1 others(1): Show |
intron_variant | MODIFIER | c.2103+1391C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196329765 | ||||||
| chr1:196329879
|
A | ATG | 34 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(31): Show | 34 | HG00323.hp1 HG01081.hp2 HG01109.hp2 others(31): Show |
intron_variant | MODIFIER | c.2103+1275_2103+127 others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196329879 | ||||||
| chr1:196329879
|
A | ATGTG | 17 | a0001c0001t0002g0007a0001c0001t0002g0028a0001c0001t0002g0029others(14): Show | 17 | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(14): Show |
intron_variant | MODIFIER | c.2103+1273_2103+127 others(8): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196329879 | ||||||
| chr1:196329879
|
A | ATGTGTG | 2 | a0001c0001t0002g0048a0001c0001t0002g0076 | 2 | HG02809.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.2103+1271_2103+127 others(10): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196329879 | ||||||
| chr1:196329879
|
ATG | A | 6 | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0003t0001g0108others(3): Show | 6 | HG02280.hp2 HG03486.hp1 NA18522.hp2 others(3): Show |
intron_variant | MODIFIER | c.2103+1275_2103+127 others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196329879 | ||||||
| chr1:196329950
|
C | CAT | 3 | a0001c0001t0001g0025a0001c0001t0001g0068a0001c0003t0008g0081 | 3 | HG01358.hp1 HG01358.hp2 HG01891.hp1 |
intron_variant | MODIFIER | c.2103+1204_2103+120 others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196329950 | ||||||
| chr1:196329950
|
C | CATAT | 6 | a0001c0001t0001g0037a0001c0001t0001g0055a0001c0001t0001g0088others(3): Show | 6 | HG00735.hp1 HG02109.hp2 HG02145.hp2 others(3): Show |
intron_variant | MODIFIER | c.2103+1202_2103+120 others(8): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196329950 | ||||||
| chr1:196329950
|
C | CATATAT | 4 | a0001c0001t0001g0073a0001c0001t0001g0087a0001c0001t0001g0090others(1): Show | 4 | HG02258.hp1 HG02809.hp2 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.2103+1200_2103+120 others(10): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196329950 | ||||||
| chr1:196329950
|
C | CATATATA others(1): Show |
14 | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0011others(11): Show | 14 | HG01891.hp2 HG02280.hp2 HG02293.hp2 others(11): Show |
intron_variant | MODIFIER | c.2103+1198_2103+120 others(12): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196329950 | ||||||
| chr1:196329950
|
C | CATATATA others(3): Show |
17 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0039others(14): Show | 17 | HG01081.hp2 HG02109.hp1 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.2103+1196_2103+120 others(14): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196329950 | ||||||
| chr1:196329950
|
C | CATATATA others(5): Show |
19 | a0001c0001t0001g0036a0001c0001t0001g0092a0001c0001t0001g0099others(16): Show | 19 | HG00323.hp1 HG00639.hp1 HG00735.hp2 others(16): Show |
intron_variant | MODIFIER | c.2103+1194_2103+120 others(16): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196329950 | ||||||
| chr1:196329950
|
C | CATATATA others(7): Show |
10 | a0001c0001t0001g0004a0001c0001t0001g0071a0001c0001t0001g0093others(7): Show | 10 | HG00741.hp1 HG01109.hp2 HG01168.hp1 others(7): Show |
intron_variant | MODIFIER | c.2103+1192_2103+120 others(18): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196329950 | ||||||
| chr1:196329950
|
C | CATATATA others(9): Show |
2 | a0001c0001t0001g0095a0001c0004t0004g0002 | 2 | HG02165.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.2103+1190_2103+120 others(20): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196329950 | ||||||
| chr1:196329950
|
C | CATATATA others(11): Show |
1 | a0001c0001t0001g0013 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2103+1188_2103+120 others(22): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196329950 | ||||||
| chr1:196329950
|
C | CATATATA others(13): Show |
1 | a0001c0001t0007g0119 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.2103+1186_2103+120 others(24): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196329950 | ||||||
| chr1:196329950
|
CAT | C | 30 | a0001c0001t0001g0018a0001c0001t0001g0022a0001c0001t0001g0027others(27): Show | 30 | HG00140.hp1 HG00323.hp2 HG00673.hp1 others(27): Show |
intron_variant | MODIFIER | c.2103+1204_2103+120 others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196329950 | ||||||
| chr1:196329950
|
CATAT | C | 3 | a0001c0001t0001g0063a0001c0001t0003g0035a0001c0001t0003g0089 | 3 | HG00741.hp2 HG02451.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.2103+1202_2103+120 others(8): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196329950 | ||||||
| chr1:196329950
|
CATATATA others(1): Show |
C | 2 | a0001c0001t0003g0082a0001c0001t0005g0100 | 2 | HG03130.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.2103+1198_2103+120 others(12): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196329950 | ||||||
| chr1:196329950
|
CATATATA others(17): Show |
C | 1 | a0001c0007t0001g0091 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.2103+1182_2103+120 others(28): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196329950 | ||||||
| chr1:196329983
|
AT | A | 2 | a0001c0001t0001g0005a0001c0001t0001g0024 | 2 | HG00673.hp2 NA18990.hp1 |
intron_variant | MODIFIER | c.2103+1172delA | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196329983 | ||||||
| chr1:196329985
|
T | A | 1 | a0001c0001t0001g0073 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.2103+1171A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196329985 | ||||||
| chr1:196330591
|
G | T | 8 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(5): Show | 8 | HG02257.hp1 HG02630.hp1 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.2103+565C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196330591 | ||||||
| chr1:196330665
|
C | T | 1 | a0001c0001t0001g0087 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.2103+491G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196330665 | ||||||
| chr1:196330888
|
A | T | 1 | a0001c0001t0001g0090 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.2103+268T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 18/27 | chr1 | 196330888 | ||||||
| chr1:196331412
|
A | G | 1 | a0001c0002t0001g0122 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1998-151T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 17/27 | chr1 | 196331412 | ||||||
| chr1:196331445
|
C | T | 19 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(16): Show | 19 | HG01109.hp2 HG01261.hp1 HG02451.hp1 others(16): Show |
intron_variant | MODIFIER | c.1998-184G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 17/27 | chr1 | 196331445 | ||||||
| chr1:196331495
|
A | G | 1 | a0001c0007t0001g0091 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1998-234T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 17/27 | chr1 | 196331495 | ||||||
| chr1:196331687
|
T | C | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1998-426A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 17/27 | chr1 | 196331687 | ||||||
| chr1:196331886
|
T | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1998-625A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 17/27 | chr1 | 196331886 | ||||||
| chr1:196331957
|
G | A | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.1998-696C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 17/27 | chr1 | 196331957 | ||||||
| chr1:196332114
|
G | A | 2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.1998-853C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 17/27 | chr1 | 196332114 | ||||||
| chr1:196332192
|
T | G | 2 | a0001c0001t0001g0025a0001c0001t0001g0068 | 2 | HG01358.hp1 HG01358.hp2 |
intron_variant | MODIFIER | c.1998-931A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 17/27 | chr1 | 196332192 | ||||||
| chr1:196332291
|
C | A | 7 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(4): Show | 7 | HG02622.hp2 HG02723.hp1 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.1998-1030G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 17/27 | chr1 | 196332291 | ||||||
| chr1:196332604
|
A | C | 1 | a0001c0001t0001g0013 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1997+1243T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 17/27 | chr1 | 196332604 | ||||||
| chr1:196332785
|
G | GT | 18 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(15): Show | 18 | HG00323.hp1 HG01081.hp2 HG01109.hp2 others(15): Show |
intron_variant | MODIFIER | c.1997+1061dupA | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 17/27 | chr1 | 196332785 | ||||||
| chr1:196332998
|
C | T | 2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.1997+849G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 17/27 | chr1 | 196332998 | ||||||
| chr1:196333070
|
G | A | 1 | a0001c0001t0001g0013 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1997+777C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 17/27 | chr1 | 196333070 | ||||||
| chr1:196333079
|
T | C | 28 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(25): Show | 28 | HG00323.hp1 HG01081.hp2 HG01109.hp2 others(25): Show |
intron_variant | MODIFIER | c.1997+768A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 17/27 | chr1 | 196333079 | ||||||
| chr1:196333094
|
G | GT | 32 | a0001c0001t0001g0013a0001c0001t0001g0017a0001c0001t0001g0073others(29): Show | 32 | HG00639.hp1 HG00639.hp2 HG00735.hp2 others(29): Show |
intron_variant | MODIFIER | c.1997+752dupA | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 17/27 | chr1 | 196333094 | ||||||
| chr1:196333096
|
T | G | 8 | a0001c0001t0001g0039a0001c0001t0009g0038a0001c0003t0001g0108others(5): Show | 8 | HG01891.hp1 HG02280.hp1 HG02280.hp2 others(5): Show |
intron_variant | MODIFIER | c.1997+751A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 17/27 | chr1 | 196333096 | ||||||
| chr1:196333102
|
T | G | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.1997+745A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 17/27 | chr1 | 196333102 | ||||||
| chr1:196333106
|
T | G | 33 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(30): Show | 33 | HG00140.hp2 HG00323.hp1 HG01081.hp2 others(30): Show |
intron_variant | MODIFIER | c.1997+741A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 17/27 | chr1 | 196333106 | ||||||
| chr1:196333106
|
T | TG | 3 | a0001c0001t0001g0079a0001c0001t0002g0113a0001c0001t0003g0103 | 3 | HG02723.hp1 HG02965.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.1997+740_1997+741i others(3): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 17/27 | chr1 | 196333106 | ||||||
| chr1:196333537
|
A | G | 1 | a0001c0001t0001g0055 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.1997+310T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 17/27 | chr1 | 196333537 | ||||||
| chr1:196333656
|
T | C | 1 | a0001c0001t0003g0104 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.1997+191A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 17/27 | chr1 | 196333656 | ||||||
| chr1:196334167
|
T | G | 7 | a0001c0001t0001g0056a0001c0001t0001g0077a0001c0003t0001g0108others(4): Show | 7 | HG01891.hp1 HG02280.hp2 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.1784-107A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196334167 | ||||||
| chr1:196334167
|
TAG | T | 8 | a0001c0001t0001g0018a0001c0001t0001g0043a0001c0001t0001g0052others(5): Show | 8 | HG01106.hp1 HG01168.hp2 HG01496.hp2 others(5): Show |
intron_variant | MODIFIER | c.1784-109_1784-108d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196334167 | ||||||
| chr1:196334189
|
G | A | 15 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(12): Show | 15 | HG01109.hp2 HG01261.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.1784-129C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196334189 | ||||||
| chr1:196334237
|
C | T | 1 | a0001c0001t0001g0022 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1784-177G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196334237 | ||||||
| chr1:196334443
|
T | C | 1 | a0001c0001t0001g0043 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.1784-383A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196334443 | ||||||
| chr1:196334487
|
C | CTTT | 19 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(16): Show | 19 | HG01109.hp2 HG01261.hp1 HG02451.hp1 others(16): Show |
intron_variant | MODIFIER | c.1784-430_1784-428d others(5): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196334487 | ||||||
| chr1:196334487
|
C | CTTTCTTT others(14): Show |
1 | a0001c0001t0002g0049 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.1784-428_1784-427i others(23): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196334487 | ||||||
| chr1:196334487
|
C | CTTTTTTT others(3): Show |
2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.1784-437_1784-428d others(12): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196334487 | ||||||
| chr1:196334487
|
C | CTTTTTTT others(11): Show |
4 | a0001c0001t0001g0052a0001c0001t0001g0054a0001c0001t0001g0079others(1): Show | 4 | HG01496.hp2 HG01891.hp1 HG01981.hp2 others(1): Show |
intron_variant | MODIFIER | c.1784-428_1784-427i others(20): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196334487 | ||||||
| chr1:196334487
|
C | CTTTTTTT others(12): Show |
27 | a0001c0001t0001g0008a0001c0001t0001g0018a0001c0001t0001g0036others(24): Show | 27 | HG01168.hp2 HG01891.hp2 HG02109.hp2 others(24): Show |
intron_variant | MODIFIER | c.1784-428_1784-427i others(21): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196334487 | ||||||
| chr1:196334487
|
C | CTTTTTTT others(13): Show |
16 | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0069others(13): Show | 16 | HG00323.hp2 HG02109.hp1 HG02145.hp2 others(13): Show |
intron_variant | MODIFIER | c.1784-428_1784-427i others(22): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196334487 | ||||||
| chr1:196334487
|
C | CTTTTTTT others(14): Show |
29 | a0001c0001t0001g0003a0001c0001t0001g0013a0001c0001t0001g0027others(26): Show | 29 | HG00735.hp2 HG00741.hp1 HG00741.hp2 others(26): Show |
intron_variant | MODIFIER | c.1784-428_1784-427i others(23): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196334487 | ||||||
| chr1:196334487
|
C | CTTTTTTT others(15): Show |
8 | a0001c0001t0001g0055a0001c0001t0001g0058a0001c0001t0002g0007others(5): Show | 8 | HG00140.hp1 HG00735.hp1 HG01106.hp2 others(5): Show |
intron_variant | MODIFIER | c.1784-428_1784-427i others(24): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196334487 | ||||||
| chr1:196334487
|
C | CTTTTTTT others(16): Show |
4 | a0001c0001t0001g0040a0001c0001t0001g0072a0001c0001t0002g0048others(1): Show | 4 | HG00673.hp1 HG02572.hp2 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.1784-428_1784-427i others(25): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196334487 | ||||||
| chr1:196334487
|
C | CTTTTTTT others(17): Show |
1 | a0001c0001t0002g0116 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1784-428_1784-427i others(26): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196334487 | ||||||
| chr1:196334487
|
C | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1784-427G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196334487 | ||||||
| chr1:196334801
|
T | C | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.1784-741A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196334801 | ||||||
| chr1:196334856
|
A | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1784-796T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196334856 | ||||||
| chr1:196335077
|
G | A | 5 | a0001c0003t0001g0108a0001c0003t0001g0109a0001c0003t0001g0111others(2): Show | 5 | HG01891.hp1 HG02280.hp2 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.1784-1017C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196335077 | ||||||
| chr1:196335332
|
C | T | 1 | a0001c0001t0001g0045 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.1784-1272G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196335332 | ||||||
| chr1:196335716
|
G | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1784-1656C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196335716 | ||||||
| chr1:196335733
|
G | T | 21 | a0001c0001t0001g0027a0001c0001t0001g0040a0001c0001t0001g0041others(18): Show | 21 | HG00140.hp1 HG00323.hp2 HG00673.hp1 others(18): Show |
intron_variant | MODIFIER | c.1784-1673C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196335733 | ||||||
| chr1:196335787
|
C | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1784-1727G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196335787 | ||||||
| chr1:196335809
|
A | G | 5 | a0001c0002t0001g0121a0001c0002t0001g0123a0001c0002t0001g0124others(2): Show | 5 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.1784-1749T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196335809 | ||||||
| chr1:196336041
|
A | G | 4 | a0001c0001t0003g0035a0001c0001t0003g0082a0001c0001t0005g0100others(1): Show | 4 | HG02451.hp1 HG03130.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.1784-1981T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196336041 | ||||||
| chr1:196336091
|
C | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1784-2031G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196336091 | ||||||
| chr1:196336272
|
T | C | 1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.1784-2212A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196336272 | ||||||
| chr1:196336528
|
G | T | 1 | a0001c0001t0001g0055 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.1784-2468C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196336528 | ||||||
| chr1:196336540
|
C | T | 1 | a0001c0001t0001g0055 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.1784-2480G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196336540 | ||||||
| chr1:196336959
|
C | G | 1 | a0001c0001t0001g0018 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.1784-2899G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196336959 | ||||||
| chr1:196336985
|
T | C | 1 | a0001c0001t0009g0038 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1784-2925A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196336985 | ||||||
| chr1:196336994
|
AGACTTCA others(2): Show |
A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1784-2943_1784-293 others(13): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196336994 | ||||||
| chr1:196336995
|
G | T | 1 | a0001c0001t0001g0018 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.1784-2935C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196336995 | ||||||
| chr1:196337108
|
C | T | 1 | a0001c0001t0003g0035 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1784-3048G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196337108 | ||||||
| chr1:196337949
|
G | A | 3 | a0001c0005t0001g0014a0001c0005t0001g0015a0001c0005t0001g0016 | 3 | HG02257.hp1 HG02630.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.1783+2392C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196337949 | ||||||
| chr1:196338094
|
A | G | 1 | a0002c0008t0001g0020 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.1783+2247T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196338094 | ||||||
| chr1:196338172
|
T | C | 1 | a0001c0001t0001g0135 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.1783+2169A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196338172 | ||||||
| chr1:196338181
|
T | C | 2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.1783+2160A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196338181 | ||||||
| chr1:196338183
|
A | G | 2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.1783+2158T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196338183 | ||||||
| chr1:196338531
|
C | G | 1 | a0001c0001t0001g0071 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.1783+1810G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196338531 | ||||||
| chr1:196338542
|
T | A | 2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.1783+1799A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196338542 | ||||||
| chr1:196338901
|
A | C | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1783+1440T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196338901 | ||||||
| chr1:196338922
|
G | A | 1 | a0001c0001t0001g0128 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.1783+1419C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196338922 | ||||||
| chr1:196338948
|
C | CA | 31 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(28): Show | 31 | HG00323.hp1 HG01081.hp2 HG01106.hp1 others(28): Show |
intron_variant | MODIFIER | c.1783+1392dupT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196338948 | ||||||
| chr1:196338948
|
C | CAA | 13 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(10): Show | 13 | HG01109.hp2 HG01168.hp1 HG01891.hp1 others(10): Show |
intron_variant | MODIFIER | c.1783+1391_1783+139 others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196338948 | ||||||
| chr1:196338948
|
CA | C | 8 | a0001c0001t0001g0057a0001c0001t0001g0075a0001c0001t0001g0084others(5): Show | 8 | HG01175.hp1 HG01496.hp1 HG02257.hp2 others(5): Show |
intron_variant | MODIFIER | c.1783+1392delT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196338948 | ||||||
| chr1:196338948
|
CAAA | C | 5 | a0001c0002t0001g0121a0001c0002t0001g0123a0001c0002t0001g0124others(2): Show | 5 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.1783+1390_1783+139 others(7): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196338948 | ||||||
| chr1:196339095
|
G | A | 1 | a0001c0006t0001g0067 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.1783+1246C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196339095 | ||||||
| chr1:196339132
|
C | T | 28 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(25): Show | 28 | HG00323.hp1 HG01081.hp2 HG01109.hp2 others(25): Show |
intron_variant | MODIFIER | c.1783+1209G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196339132 | ||||||
| chr1:196339213
|
G | A | 2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.1783+1128C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196339213 | ||||||
| chr1:196339506
|
GAC | G | 19 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(16): Show | 19 | HG01109.hp2 HG01261.hp1 HG02451.hp1 others(16): Show |
intron_variant | MODIFIER | c.1783+833_1783+834d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196339506 | ||||||
| chr1:196339520
|
C | CACACAGA others(1): Show |
2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.1783+820_1783+821i others(10): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196339520 | ||||||
| chr1:196339520
|
C | CAG | 11 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0083others(8): Show | 11 | HG02257.hp1 HG02622.hp2 HG02630.hp1 others(8): Show |
intron_variant | MODIFIER | c.1783+819_1783+820d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196339520 | ||||||
| chr1:196339520
|
C | CAGAG | 5 | a0001c0001t0001g0003a0001c0001t0001g0039a0001c0001t0001g0079others(2): Show | 5 | HG02717.hp2 HG02965.hp1 HG03225.hp1 others(2): Show |
intron_variant | MODIFIER | c.1783+817_1783+820d others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196339520 | ||||||
| chr1:196339520
|
C | CAGAGAG | 5 | a0001c0002t0001g0121a0001c0002t0001g0124a0001c0002t0001g0125others(2): Show | 5 | HG02109.hp1 HG02145.hp1 HG02280.hp1 others(2): Show |
intron_variant | MODIFIER | c.1783+815_1783+820d others(8): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196339520 | ||||||
| chr1:196339520
|
C | CAGAGAGA others(3): Show |
1 | a0001c0003t0001g0108 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1783+811_1783+820d others(12): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196339520 | ||||||
| chr1:196339520
|
C | CAGAGAGA others(5): Show |
2 | a0001c0003t0001g0109a0001c0003t0001g0112 | 2 | HG02280.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.1783+809_1783+820d others(14): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196339520 | ||||||
| chr1:196339520
|
C | CAGAGAGA others(7): Show |
1 | a0001c0003t0008g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1783+807_1783+820d others(16): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196339520 | ||||||
| chr1:196339520
|
C | CAGAGAGA others(9): Show |
2 | a0001c0001t0001g0130a0001c0003t0001g0111 | 2 | HG03486.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1783+805_1783+820d others(18): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196339520 | ||||||
| chr1:196339520
|
C | CAGAGAGA others(11): Show |
1 | a0001c0001t0001g0131 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1783+803_1783+820d others(20): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196339520 | ||||||
| chr1:196339520
|
C | G | 1 | a0001c0001t0001g0013 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1783+821G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196339520 | ||||||
| chr1:196339520
|
CAG | C | 67 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0017others(64): Show | 67 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(64): Show |
intron_variant | MODIFIER | c.1783+819_1783+820d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196339520 | ||||||
| chr1:196339520
|
CAGAG | C | 12 | a0001c0001t0002g0026a0001c0001t0002g0048a0001c0001t0002g0049others(9): Show | 12 | HG00639.hp1 HG01074.hp1 HG01175.hp1 others(9): Show |
intron_variant | MODIFIER | c.1783+817_1783+820d others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196339520 | ||||||
| chr1:196339524
|
G | C | 1 | a0001c0001t0001g0069 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.1783+817C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196339524 | ||||||
| chr1:196339909
|
C | G | 1 | a0001c0001t0001g0135 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.1783+432G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196339909 | ||||||
| chr1:196339910
|
TTGA | T | 4 | a0001c0001t0003g0035a0001c0001t0003g0082a0001c0001t0005g0100others(1): Show | 4 | HG02451.hp1 HG03130.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.1783+428_1783+430d others(5): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196339910 | ||||||
| chr1:196339947
|
TA | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1783+393delT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196339947 | ||||||
| chr1:196340048
|
T | C | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.1783+293A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196340048 | ||||||
| chr1:196340110
|
G | A | 2 | a0001c0001t0001g0056a0001c0001t0001g0077 | 2 | HG02630.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.1783+231C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196340110 | ||||||
| chr1:196340131
|
T | C | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1783+210A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196340131 | ||||||
| chr1:196340250
|
A | G | 1 | a0001c0004t0004g0133 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.1783+91T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | 196340250 | ||||||
| chr1:196340605
|
T | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1554-35A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 15/27 | chr1 | 196340605 | ||||||
| chr1:196340998
|
C | T | 59 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(56): Show | 59 | HG00323.hp1 HG00639.hp1 HG00735.hp2 others(56): Show |
intron_variant | MODIFIER | c.1554-428G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 15/27 | chr1 | 196340998 | ||||||
| chr1:196341545
|
T | C | 1 | a0001c0001t0001g0074 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.1553+534A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 15/27 | chr1 | 196341545 | ||||||
| chr1:196341969
|
C | T | 19 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(16): Show | 19 | HG01109.hp2 HG01261.hp1 HG02451.hp1 others(16): Show |
intron_variant | MODIFIER | c.1553+110G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 15/27 | chr1 | 196341969 | ||||||
| chr1:196342383
|
G | A | 31 | a0001c0001t0001g0018a0001c0001t0001g0027a0001c0001t0001g0040others(28): Show | 31 | HG00140.hp1 HG00323.hp2 HG00673.hp1 others(28): Show |
intron_variant | MODIFIER | c.1404-155C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196342383 | ||||||
| chr1:196342420
|
C | CTA | 8 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(5): Show | 8 | HG01261.hp1 HG02572.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.1404-194_1404-193d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196342420 | ||||||
| chr1:196342420
|
C | CTATA | 4 | a0001c0001t0001g0094a0001c0001t0001g0095a0001c0001t0001g0096others(1): Show | 4 | HG01109.hp2 HG03516.hp1 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.1404-196_1404-193d others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196342420 | ||||||
| chr1:196342420
|
C | CTATATAT others(23): Show |
1 | a0001c0001t0001g0092 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.1404-193_1404-192i others(32): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196342420 | ||||||
| chr1:196342420
|
CTA | C | 29 | a0001c0001t0001g0017a0001c0001t0001g0019a0001c0001t0001g0022others(26): Show | 29 | HG00639.hp2 HG01074.hp2 HG01168.hp2 others(26): Show |
intron_variant | MODIFIER | c.1404-194_1404-193d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196342420 | ||||||
| chr1:196342420
|
CTATA | C | 51 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0008others(48): Show | 51 | HG00140.hp1 HG00323.hp2 HG00673.hp1 others(48): Show |
intron_variant | MODIFIER | c.1404-196_1404-193d others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196342420 | ||||||
| chr1:196342420
|
CTATATA | C | 5 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0124others(2): Show | 5 | HG01891.hp1 HG02109.hp1 HG02145.hp1 others(2): Show |
intron_variant | MODIFIER | c.1404-198_1404-193d others(8): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196342420 | ||||||
| chr1:196342420
|
CTATATAT others(1): Show |
C | 4 | a0001c0002t0001g0123a0001c0004t0004g0002a0001c0004t0004g0132others(1): Show | 4 | HG00323.hp1 HG01081.hp2 HG02165.hp2 others(1): Show |
intron_variant | MODIFIER | c.1404-200_1404-193d others(10): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196342420 | ||||||
| chr1:196342420
|
CTATATAT others(3): Show |
C | 21 | a0001c0001t0002g0007a0001c0001t0002g0026a0001c0001t0002g0028others(18): Show | 21 | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(18): Show |
intron_variant | MODIFIER | c.1404-202_1404-193d others(12): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196342420 | ||||||
| chr1:196342424
|
A | ATATATAT others(45): Show |
1 | a0001c0001t0001g0127 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1404-197_1404-196i others(54): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196342424 | ||||||
| chr1:196342424
|
A | ATATATAT others(15): Show |
1 | a0001c0001t0001g0023 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.1404-197_1404-196i others(24): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196342424 | ||||||
| chr1:196342426
|
A | ATATATAT others(39): Show |
1 | a0001c0001t0001g0128 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.1404-199_1404-198i others(48): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196342426 | ||||||
| chr1:196342426
|
ATATATAT others(15): Show |
A | 1 | a0001c0001t0001g0102 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1404-220_1404-199d others(24): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196342426 | ||||||
| chr1:196342428
|
A | ATATATAT others(37): Show |
1 | a0001c0001t0001g0130 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1404-201_1404-200i others(46): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196342428 | ||||||
| chr1:196342428
|
A | ATATATAT others(33): Show |
1 | a0001c0001t0001g0131 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1404-201_1404-200i others(42): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196342428 | ||||||
| chr1:196342428
|
ATATATAT others(13): Show |
A | 1 | a0001c0001t0001g0021 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.1404-220_1404-201d others(22): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196342428 | ||||||
| chr1:196342462
|
A | G | 3 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0085 | 3 | HG02622.hp2 HG02965.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1404-234T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196342462 | ||||||
| chr1:196342463
|
T | C | 3 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0085 | 3 | HG02622.hp2 HG02965.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1404-235A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196342463 | ||||||
| chr1:196342764
|
C | A | 9 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(6): Show | 9 | HG02572.hp1 HG02717.hp1 HG02809.hp1 others(6): Show |
intron_variant | MODIFIER | c.1404-536G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196342764 | ||||||
| chr1:196342957
|
G | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1404-729C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196342957 | ||||||
| chr1:196342987
|
C | T | 1 | a0001c0001t0001g0022 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1404-759G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196342987 | ||||||
| chr1:196343039
|
C | G | 1 | a0001c0001t0001g0073 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.1404-811G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196343039 | ||||||
| chr1:196343250
|
C | A | 3 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012 | 3 | HG02717.hp1 HG02886.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.1404-1022G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196343250 | ||||||
| chr1:196343314
|
T | C | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1404-1086A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196343314 | ||||||
| chr1:196343631
|
T | C | 2 | a0001c0001t0002g0115a0001c0001t0002g0116 | 2 | HG02258.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.1404-1403A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196343631 | ||||||
| chr1:196343747
|
GTGTTTTG others(3): Show |
G | 1 | a0001c0001t0001g0039 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1404-1529_1404-152 others(14): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196343747 | ||||||
| chr1:196343775
|
A | G | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.1404-1547T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196343775 | ||||||
| chr1:196344126
|
T | C | 1 | a0001c0003t0001g0112 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.1404-1898A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196344126 | ||||||
| chr1:196344148
|
A | G | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.1404-1920T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196344148 | ||||||
| chr1:196344227
|
G | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1404-1999C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196344227 | ||||||
| chr1:196344593
|
CT | C | 5 | a0001c0003t0001g0108a0001c0003t0001g0109a0001c0003t0001g0111others(2): Show | 5 | HG01891.hp1 HG02280.hp2 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.1404-2366delA | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196344593 | ||||||
| chr1:196344646
|
A | G | 2 | a0001c0001t0001g0039a0001c0001t0009g0038 | 2 | HG03225.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.1404-2418T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196344646 | ||||||
| chr1:196344758
|
C | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1404-2530G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196344758 | ||||||
| chr1:196345008
|
T | G | 3 | a0001c0001t0001g0098a0001c0001t0001g0099a0001c0001t0010g0097 | 3 | HG02572.hp1 HG03471.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.1404-2780A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196345008 | ||||||
| chr1:196345010
|
A | G | 1 | a0001c0001t0001g0062 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1404-2782T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196345010 | ||||||
| chr1:196345261
|
T | C | 4 | a0001c0001t0001g0053a0001c0001t0001g0057a0001c0001t0001g0129others(1): Show | 4 | HG01175.hp2 HG01261.hp2 HG02257.hp2 others(1): Show |
intron_variant | MODIFIER | c.1404-3033A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196345261 | ||||||
| chr1:196345396
|
C | CAG | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1404-3170_1404-316 others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196345396 | ||||||
| chr1:196345654
|
A | G | 1 | a0001c0001t0003g0089 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.1404-3426T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196345654 | ||||||
| chr1:196345656
|
A | G | 38 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(35): Show | 38 | HG00323.hp1 HG01081.hp2 HG01109.hp2 others(35): Show |
intron_variant | MODIFIER | c.1404-3428T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196345656 | ||||||
| chr1:196345843
|
A | C | 134 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(131): Show | 134 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(131): Show |
intron_variant | MODIFIER | c.1404-3615T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196345843 | ||||||
| chr1:196346101
|
G | C | 6 | a0001c0001t0002g0007a0001c0001t0002g0030a0001c0001t0002g0031others(3): Show | 6 | HG00735.hp2 HG00741.hp1 HG01106.hp2 others(3): Show |
intron_variant | MODIFIER | c.1404-3873C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196346101 | ||||||
| chr1:196346249
|
C | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1404-4021G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196346249 | ||||||
| chr1:196346250
|
A | C | 4 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(1): Show | 4 | HG02717.hp2 HG02895.hp2 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.1404-4022T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196346250 | ||||||
| chr1:196346377
|
A | T | 1 | a0001c0001t0001g0071 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.1404-4149T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196346377 | ||||||
| chr1:196346827
|
T | A | 1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.1404-4599A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196346827 | ||||||
| chr1:196347023
|
T | C | 1 | a0001c0001t0001g0037 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1404-4795A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196347023 | ||||||
| chr1:196347126
|
A | G | 1 | a0001c0007t0001g0091 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1404-4898T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196347126 | ||||||
| chr1:196347161
|
G | C | 36 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(33): Show | 36 | HG00323.hp1 HG01081.hp2 HG01109.hp2 others(33): Show |
intron_variant | MODIFIER | c.1404-4933C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196347161 | ||||||
| chr1:196347204
|
G | A | 22 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(19): Show | 22 | HG00323.hp1 HG01081.hp2 HG01109.hp2 others(19): Show |
intron_variant | MODIFIER | c.1404-4976C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196347204 | ||||||
| chr1:196347227
|
C | A | 1 | a0001c0001t0001g0021 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.1404-4999G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196347227 | ||||||
| chr1:196347446
|
A | G | 1 | a0001c0003t0008g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1404-5218T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196347446 | ||||||
| chr1:196347537
|
C | T | 1 | a0001c0001t0001g0062 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1404-5309G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196347537 | ||||||
| chr1:196347541
|
T | A | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.1404-5313A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196347541 | ||||||
| chr1:196347631
|
C | T | 75 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(72): Show | 75 | HG00323.hp1 HG00639.hp1 HG00735.hp2 others(72): Show |
intron_variant | MODIFIER | c.1404-5403G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196347631 | ||||||
| chr1:196347721
|
C | T | 3 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0085 | 3 | HG02622.hp2 HG02965.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1404-5493G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196347721 | ||||||
| chr1:196348206
|
T | TA | 20 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0046others(17): Show | 20 | HG01109.hp2 HG01261.hp1 HG02572.hp1 others(17): Show |
intron_variant | MODIFIER | c.1404-5979dupT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196348206 | ||||||
| chr1:196348206
|
TA | T | 8 | a0001c0001t0001g0073a0001c0003t0001g0108a0001c0003t0001g0109others(5): Show | 8 | HG00323.hp1 HG01081.hp2 HG02165.hp2 others(5): Show |
intron_variant | MODIFIER | c.1404-5979delT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196348206 | ||||||
| chr1:196348217
|
A | C | 1 | a0001c0001t0001g0083 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.1404-5989T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196348217 | ||||||
| chr1:196348816
|
G | A | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.1404-6588C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196348816 | ||||||
| chr1:196348891
|
A | C | 2 | a0001c0001t0002g0115a0001c0001t0002g0116 | 2 | HG02258.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.1404-6663T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196348891 | ||||||
| chr1:196348910
|
G | A | 1 | a0001c0001t0001g0093 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1404-6682C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196348910 | ||||||
| chr1:196349483
|
C | T | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.1404-7255G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196349483 | ||||||
| chr1:196349955
|
G | A | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1404-7727C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196349955 | ||||||
| chr1:196350092
|
A | C | 1 | a0001c0001t0001g0069 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.1404-7864T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196350092 | ||||||
| chr1:196350229
|
A | G | 1 | a0001c0001t0003g0035 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1404-8001T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196350229 | ||||||
| chr1:196350234
|
G | A | 8 | a0001c0001t0001g0039a0001c0001t0009g0038a0001c0003t0001g0108others(5): Show | 8 | HG01891.hp1 HG02280.hp1 HG02280.hp2 others(5): Show |
intron_variant | MODIFIER | c.1404-8006C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196350234 | ||||||
| chr1:196350265
|
C | A | 2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.1404-8037G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196350265 | ||||||
| chr1:196350499
|
T | A | 1 | a0001c0001t0001g0060 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.1404-8271A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196350499 | ||||||
| chr1:196350551
|
G | GTTGT | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1404-8327_1404-832 others(8): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196350551 | ||||||
| chr1:196350617
|
G | A | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1404-8389C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196350617 | ||||||
| chr1:196350795
|
T | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1404-8567A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196350795 | ||||||
| chr1:196350801
|
T | A | 8 | a0001c0001t0001g0027a0001c0001t0001g0042a0001c0001t0001g0045others(5): Show | 8 | HG00673.hp1 HG02293.hp2 HG03492.hp2 others(5): Show |
intron_variant | MODIFIER | c.1404-8573A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196350801 | ||||||
| chr1:196350807
|
G | A | 2 | a0001c0001t0001g0065a0001c0001t0003g0104 | 2 | HG01891.hp2 HG02145.hp2 |
intron_variant | MODIFIER | c.1404-8579C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196350807 | ||||||
| chr1:196350844
|
G | A | 2 | a0001c0001t0001g0039a0001c0001t0009g0038 | 2 | HG03225.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.1404-8616C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196350844 | ||||||
| chr1:196350862
|
T | A | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.1404-8634A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196350862 | ||||||
| chr1:196350862
|
T | G | 1 | a0001c0001t0002g0116 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1404-8634A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196350862 | ||||||
| chr1:196351023
|
G | A | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.1404-8795C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196351023 | ||||||
| chr1:196351083
|
A | G | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.1404-8855T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196351083 | ||||||
| chr1:196351088
|
G | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1404-8860C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196351088 | ||||||
| chr1:196351128
|
T | C | 38 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(35): Show | 38 | HG00323.hp1 HG01081.hp2 HG01109.hp2 others(35): Show |
intron_variant | MODIFIER | c.1404-8900A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196351128 | ||||||
| chr1:196351190
|
T | C | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.1404-8962A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196351190 | ||||||
| chr1:196351431
|
G | A | 15 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(12): Show | 15 | HG01109.hp2 HG01261.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.1404-9203C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196351431 | ||||||
| chr1:196351485
|
T | C | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1404-9257A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196351485 | ||||||
| chr1:196351495
|
GCT | G | 33 | a0001c0001t0001g0018a0001c0001t0001g0027a0001c0001t0001g0040others(30): Show | 33 | HG00140.hp1 HG00323.hp2 HG00673.hp1 others(30): Show |
intron_variant | MODIFIER | c.1404-9269_1404-926 others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196351495 | ||||||
| chr1:196351561
|
C | T | 1 | a0001c0007t0001g0091 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1404-9333G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196351561 | ||||||
| chr1:196351642
|
G | A | 1 | a0001c0001t0001g0129 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1404-9414C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196351642 | ||||||
| chr1:196351658
|
A | C | 8 | a0001c0001t0001g0039a0001c0001t0009g0038a0001c0003t0001g0108others(5): Show | 8 | HG01891.hp1 HG02280.hp1 HG02280.hp2 others(5): Show |
intron_variant | MODIFIER | c.1404-9430T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196351658 | ||||||
| chr1:196351780
|
A | G | 9 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(6): Show | 9 | HG02257.hp1 HG02630.hp1 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.1404-9552T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196351780 | ||||||
| chr1:196351791
|
A | G | 5 | a0001c0002t0001g0121a0001c0002t0001g0123a0001c0002t0001g0124others(2): Show | 5 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.1404-9563T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196351791 | ||||||
| chr1:196351916
|
G | C | 1 | a0001c0007t0001g0091 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1404-9688C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196351916 | ||||||
| chr1:196351935
|
T | A | 1 | a0001c0001t0002g0116 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1404-9707A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196351935 | ||||||
| chr1:196352038
|
C | T | 1 | a0001c0001t0001g0040 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.1404-9810G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196352038 | ||||||
| chr1:196352082
|
G | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1404-9854C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196352082 | ||||||
| chr1:196352083
|
G | A | 15 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(12): Show | 15 | HG01109.hp2 HG01261.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.1404-9855C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196352083 | ||||||
| chr1:196352314
|
A | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1404-10086T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196352314 | ||||||
| chr1:196352504
|
T | C | 15 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(12): Show | 15 | HG01109.hp2 HG01261.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.1404-10276A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196352504 | ||||||
| chr1:196352517
|
T | C | 1 | a0001c0001t0005g0100 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1404-10289A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196352517 | ||||||
| chr1:196352616
|
T | C | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1404-10388A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196352616 | ||||||
| chr1:196352982
|
G | T | 1 | a0001c0001t0003g0082 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1404-10754C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196352982 | ||||||
| chr1:196353072
|
C | T | 15 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(12): Show | 15 | HG01109.hp2 HG01261.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.1404-10844G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196353072 | ||||||
| chr1:196353185
|
G | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1404-10957C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196353185 | ||||||
| chr1:196353264
|
C | A | 1 | a0001c0001t0006g0001 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.1404-11036G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196353264 | ||||||
| chr1:196353641
|
T | A | 15 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(12): Show | 15 | HG01109.hp2 HG01261.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.1404-11413A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196353641 | ||||||
| chr1:196354574
|
G | T | 1 | a0001c0001t0001g0093 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1404-12346C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196354574 | ||||||
| chr1:196354839
|
A | G | 1 | a0001c0001t0003g0035 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1404-12611T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196354839 | ||||||
| chr1:196354872
|
T | C | 5 | a0001c0003t0001g0108a0001c0003t0001g0109a0001c0003t0001g0111others(2): Show | 5 | HG01891.hp1 HG02280.hp2 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.1404-12644A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196354872 | ||||||
| chr1:196355163
|
C | T | 1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.1404-12935G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196355163 | ||||||
| chr1:196355164
|
G | C | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1404-12936C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196355164 | ||||||
| chr1:196355257
|
T | C | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.1404-13029A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196355257 | ||||||
| chr1:196355275
|
C | T | 28 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(25): Show | 28 | HG00323.hp1 HG01081.hp2 HG01109.hp2 others(25): Show |
intron_variant | MODIFIER | c.1404-13047G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196355275 | ||||||
| chr1:196355397
|
G | A | 2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.1404-13169C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196355397 | ||||||
| chr1:196355491
|
T | C | 1 | a0001c0001t0003g0104 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.1404-13263A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196355491 | ||||||
| chr1:196355642
|
C | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1404-13414G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196355642 | ||||||
| chr1:196355713
|
A | C | 3 | a0001c0005t0001g0014a0001c0005t0001g0015a0001c0005t0001g0016 | 3 | HG02257.hp1 HG02630.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.1404-13485T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196355713 | ||||||
| chr1:196356511
|
C | A | 1 | a0001c0001t0005g0106 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1404-14283G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196356511 | ||||||
| chr1:196356681
|
C | G | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.1404-14453G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196356681 | ||||||
| chr1:196356739
|
T | A | 1 | a0001c0001t0001g0047 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.1404-14511A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196356739 | ||||||
| chr1:196356813
|
G | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1404-14585C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196356813 | ||||||
| chr1:196356850
|
C | T | 13 | a0001c0001t0002g0007a0001c0001t0002g0028a0001c0001t0002g0029others(10): Show | 13 | HG00735.hp2 HG00741.hp1 HG01106.hp2 others(10): Show |
intron_variant | MODIFIER | c.1404-14622G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196356850 | ||||||
| chr1:196357168
|
T | C | 5 | a0001c0001t0001g0005a0001c0001t0001g0023a0001c0001t0001g0024others(2): Show | 5 | HG00673.hp2 HG01496.hp1 HG01981.hp1 others(2): Show |
intron_variant | MODIFIER | c.1404-14940A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196357168 | ||||||
| chr1:196357212
|
A | T | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.1404-14984T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196357212 | ||||||
| chr1:196357252
|
T | C | 1 | a0001c0001t0001g0071 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.1404-15024A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196357252 | ||||||
| chr1:196357699
|
T | C | 4 | a0001c0003t0001g0108a0001c0003t0001g0109a0001c0003t0001g0111others(1): Show | 4 | HG02280.hp2 NA18522.hp2 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.1403+15441A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196357699 | ||||||
| chr1:196358433
|
T | C | 1 | a0001c0001t0001g0064 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.1403+14707A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196358433 | ||||||
| chr1:196358577
|
T | C | 4 | a0001c0003t0001g0108a0001c0003t0001g0109a0001c0003t0001g0111others(1): Show | 4 | HG02280.hp2 NA18522.hp2 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.1403+14563A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196358577 | ||||||
| chr1:196359202
|
G | A | 1 | a0001c0007t0001g0091 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1403+13938C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196359202 | ||||||
| chr1:196359236
|
G | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1403+13904C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196359236 | ||||||
| chr1:196359390
|
A | C | 5 | a0001c0003t0001g0108a0001c0003t0001g0109a0001c0003t0001g0111others(2): Show | 5 | HG01891.hp1 HG02280.hp2 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.1403+13750T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196359390 | ||||||
| chr1:196359781
|
A | T | 6 | a0001c0001t0002g0007a0001c0001t0002g0030a0001c0001t0002g0031others(3): Show | 6 | HG00735.hp2 HG00741.hp1 HG01106.hp2 others(3): Show |
intron_variant | MODIFIER | c.1403+13359T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196359781 | ||||||
| chr1:196360104
|
A | T | 9 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(6): Show | 9 | HG02257.hp1 HG02630.hp1 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.1403+13036T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196360104 | ||||||
| chr1:196360232
|
T | C | 59 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(56): Show | 59 | HG00323.hp1 HG00639.hp1 HG00735.hp2 others(56): Show |
intron_variant | MODIFIER | c.1403+12908A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196360232 | ||||||
| chr1:196360363
|
C | T | 1 | a0001c0001t0001g0052 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.1403+12777G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196360363 | ||||||
| chr1:196360626
|
G | A | 1 | a0001c0001t0002g0028 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.1403+12514C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196360626 | ||||||
| chr1:196360651
|
A | ACACAC | 4 | a0001c0001t0003g0035a0001c0001t0003g0082a0001c0001t0005g0100others(1): Show | 4 | HG02451.hp1 HG03130.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.1403+12484_1403+12 others(11): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196360651 | ||||||
| chr1:196360693
|
C | A | 2 | a0001c0005t0001g0014a0001c0005t0001g0016 | 2 | HG02257.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.1403+12447G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196360693 | ||||||
| chr1:196360711
|
G | C | 8 | a0001c0001t0001g0039a0001c0001t0009g0038a0001c0003t0001g0108others(5): Show | 8 | HG01891.hp1 HG02280.hp1 HG02280.hp2 others(5): Show |
intron_variant | MODIFIER | c.1403+12429C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196360711 | ||||||
| chr1:196360736
|
G | A | 1 | a0001c0001t0002g0049 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.1403+12404C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196360736 | ||||||
| chr1:196360790
|
A | C | 1 | a0001c0007t0001g0091 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1403+12350T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196360790 | ||||||
| chr1:196361204
|
G | GACAC | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1403+11932_1403+11 others(10): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196361204 | ||||||
| chr1:196361556
|
G | A | 1 | a0001c0007t0001g0091 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1403+11584C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196361556 | ||||||
| chr1:196361561
|
T | A | 1 | a0001c0001t0001g0090 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1403+11579A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196361561 | ||||||
| chr1:196361564
|
G | A | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.1403+11576C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196361564 | ||||||
| chr1:196361845
|
T | C | 2 | a0001c0001t0001g0039a0001c0001t0009g0038 | 2 | HG03225.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.1403+11295A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196361845 | ||||||
| chr1:196361914
|
A | AGT | 63 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(60): Show | 63 | HG00140.hp2 HG00639.hp1 HG00639.hp2 others(60): Show |
intron_variant | MODIFIER | c.1403+11224_1403+11 others(8): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196361914 | ||||||
| chr1:196361914
|
A | AGTGT | 39 | a0001c0001t0001g0018a0001c0001t0001g0023a0001c0001t0001g0027others(36): Show | 39 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(36): Show |
intron_variant | MODIFIER | c.1403+11222_1403+11 others(10): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196361914 | ||||||
| chr1:196361914
|
AGT | A | 9 | a0001c0001t0001g0037a0001c0001t0001g0039a0001c0001t0009g0038others(6): Show | 9 | HG01891.hp1 HG02109.hp2 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.1403+11224_1403+11 others(8): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196361914 | ||||||
| chr1:196361932
|
T | TGTG | 2 | a0001c0001t0001g0025a0001c0001t0001g0068 | 2 | HG01358.hp1 HG01358.hp2 |
intron_variant | MODIFIER | c.1403+11207_1403+11 others(9): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196361932 | ||||||
| chr1:196361933
|
T | G | 1 | a0001c0001t0001g0021 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.1403+11207A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196361933 | ||||||
| chr1:196362251
|
A | G | 21 | a0001c0001t0001g0027a0001c0001t0002g0007a0001c0001t0002g0028others(18): Show | 21 | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(18): Show |
intron_variant | MODIFIER | c.1403+10889T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196362251 | ||||||
| chr1:196362563
|
T | C | 1 | a0001c0001t0002g0050 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.1403+10577A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196362563 | ||||||
| chr1:196362567
|
C | A | 15 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(12): Show | 15 | HG01109.hp2 HG01261.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.1403+10573G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196362567 | ||||||
| chr1:196362703
|
G | T | 68 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(65): Show | 68 | HG00323.hp1 HG00639.hp1 HG00735.hp2 others(65): Show |
intron_variant | MODIFIER | c.1403+10437C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196362703 | ||||||
| chr1:196363200
|
A | G | 1 | a0001c0005t0001g0015 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1403+9940T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196363200 | ||||||
| chr1:196363301
|
A | C | 3 | a0001c0005t0001g0014a0001c0005t0001g0015a0001c0005t0001g0016 | 3 | HG02257.hp1 HG02630.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.1403+9839T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196363301 | ||||||
| chr1:196363633
|
C | T | 1 | a0001c0001t0001g0046 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1403+9507G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196363633 | ||||||
| chr1:196363966
|
A | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1403+9174T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196363966 | ||||||
| chr1:196364050
|
G | T | 1 | a0001c0007t0001g0091 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1403+9090C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196364050 | ||||||
| chr1:196364059
|
T | C | 1 | a0001c0001t0003g0089 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.1403+9081A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196364059 | ||||||
| chr1:196364090
|
GA | G | 6 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(3): Show | 6 | HG02622.hp2 HG02723.hp1 HG02965.hp1 others(3): Show |
intron_variant | MODIFIER | c.1403+9049delT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196364090 | ||||||
| chr1:196364135
|
A | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1403+9005T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196364135 | ||||||
| chr1:196364218
|
G | A | 8 | a0001c0001t0001g0039a0001c0001t0009g0038a0001c0003t0001g0108others(5): Show | 8 | HG01891.hp1 HG02280.hp1 HG02280.hp2 others(5): Show |
intron_variant | MODIFIER | c.1403+8922C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196364218 | ||||||
| chr1:196364219
|
C | T | 1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.1403+8921G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196364219 | ||||||
| chr1:196364247
|
A | T | 1 | a0001c0003t0008g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1403+8893T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196364247 | ||||||
| chr1:196364331
|
T | C | 38 | a0001c0001t0001g0027a0001c0001t0001g0039a0001c0001t0002g0007others(35): Show | 38 | HG00323.hp1 HG00639.hp1 HG00735.hp2 others(35): Show |
intron_variant | MODIFIER | c.1403+8809A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196364331 | ||||||
| chr1:196364835
|
T | G | 1 | a0001c0001t0001g0024 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.1403+8305A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196364835 | ||||||
| chr1:196364858
|
A | G | 1 | a0001c0001t0001g0013 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1403+8282T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196364858 | ||||||
| chr1:196364913
|
G | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1403+8227C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196364913 | ||||||
| chr1:196365317
|
A | ATTTCCTC others(9): Show |
3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1403+7822_1403+782 others(20): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196365317 | ||||||
| chr1:196365670
|
T | G | 1 | a0001c0001t0001g0022 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1403+7470A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196365670 | ||||||
| chr1:196365746
|
C | G | 21 | a0001c0001t0001g0027a0001c0001t0002g0007a0001c0001t0002g0028others(18): Show | 21 | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(18): Show |
intron_variant | MODIFIER | c.1403+7394G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196365746 | ||||||
| chr1:196365972
|
G | C | 1 | a0001c0001t0001g0022 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1403+7168C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196365972 | ||||||
| chr1:196365975
|
T | C | 1 | a0001c0001t0001g0080 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.1403+7165A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196365975 | ||||||
| chr1:196366080
|
G | C | 4 | a0001c0001t0003g0035a0001c0001t0003g0082a0001c0001t0005g0100others(1): Show | 4 | HG02451.hp1 HG03130.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.1403+7060C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196366080 | ||||||
| chr1:196366087
|
AC | A | 4 | a0001c0003t0001g0108a0001c0003t0001g0109a0001c0003t0001g0111others(1): Show | 4 | HG02280.hp2 NA18522.hp2 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.1403+7052delG | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196366087 | ||||||
| chr1:196366161
|
A | AT | 2 | a0001c0001t0001g0056a0001c0001t0001g0077 | 2 | HG02630.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.1403+6978dupA | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196366161 | ||||||
| chr1:196366164
|
A | T | 19 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(16): Show | 19 | HG00323.hp1 HG01081.hp2 HG01109.hp2 others(16): Show |
intron_variant | MODIFIER | c.1403+6976T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196366164 | ||||||
| chr1:196366167
|
T | A | 1 | a0001c0001t0003g0082 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1403+6973A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196366167 | ||||||
| chr1:196366168
|
T | A | 1 | a0001c0001t0003g0035 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1403+6972A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196366168 | ||||||
| chr1:196366221
|
G | A | 8 | a0001c0001t0001g0039a0001c0001t0009g0038a0001c0003t0001g0108others(5): Show | 8 | HG01891.hp1 HG02280.hp1 HG02280.hp2 others(5): Show |
intron_variant | MODIFIER | c.1403+6919C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196366221 | ||||||
| chr1:196366248
|
C | T | 1 | a0001c0001t0001g0004 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.1403+6892G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196366248 | ||||||
| chr1:196366429
|
G | T | 1 | a0001c0001t0001g0024 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.1403+6711C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196366429 | ||||||
| chr1:196366438
|
C | T | 1 | a0001c0001t0001g0055 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.1403+6702G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196366438 | ||||||
| chr1:196366547
|
C | A | 1 | a0001c0001t0001g0065 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.1403+6593G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196366547 | ||||||
| chr1:196366567
|
T | C | 9 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(6): Show | 9 | HG02257.hp1 HG02630.hp1 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.1403+6573A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196366567 | ||||||
| chr1:196366681
|
C | T | 1 | a0001c0001t0001g0018 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.1403+6459G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196366681 | ||||||
| chr1:196366988
|
C | A | 5 | a0001c0002t0001g0121a0001c0002t0001g0123a0001c0002t0001g0124others(2): Show | 5 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.1403+6152G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196366988 | ||||||
| chr1:196367008
|
A | C | 1 | a0001c0001t0001g0072 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.1403+6132T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196367008 | ||||||
| chr1:196367090
|
A | AGGATTTG others(6): Show |
1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.1403+6037_1403+604 others(17): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196367090 | ||||||
| chr1:196367328
|
T | C | 7 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(4): Show | 7 | HG02622.hp2 HG02723.hp1 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.1403+5812A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196367328 | ||||||
| chr1:196367428
|
G | A | 1 | a0001c0001t0001g0074 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.1403+5712C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196367428 | ||||||
| chr1:196367522
|
T | C | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.1403+5618A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196367522 | ||||||
| chr1:196367589
|
A | T | 1 | a0001c0001t0001g0059 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.1403+5551T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196367589 | ||||||
| chr1:196367601
|
T | C | 1 | a0001c0005t0001g0015 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1403+5539A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196367601 | ||||||
| chr1:196368432
|
A | G | 8 | a0001c0001t0001g0039a0001c0001t0009g0038a0001c0003t0001g0108others(5): Show | 8 | HG01891.hp1 HG02280.hp1 HG02280.hp2 others(5): Show |
intron_variant | MODIFIER | c.1403+4708T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196368432 | ||||||
| chr1:196368494
|
T | G | 1 | a0001c0001t0002g0050 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.1403+4646A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196368494 | ||||||
| chr1:196368501
|
C | T | 9 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(6): Show | 9 | HG02257.hp1 HG02630.hp1 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.1403+4639G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196368501 | ||||||
| chr1:196369163
|
T | C | 1 | a0001c0001t0001g0107 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.1403+3977A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196369163 | ||||||
| chr1:196369486
|
C | A | 21 | a0001c0001t0001g0027a0001c0001t0002g0007a0001c0001t0002g0028others(18): Show | 21 | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(18): Show |
intron_variant | MODIFIER | c.1403+3654G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196369486 | ||||||
| chr1:196369571
|
T | C | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(127): Show |
intron_variant | MODIFIER | c.1403+3569A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196369571 | ||||||
| chr1:196369611
|
T | C | 19 | a0001c0001t0001g0027a0001c0001t0002g0007a0001c0001t0002g0028others(16): Show | 19 | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(16): Show |
intron_variant | MODIFIER | c.1403+3529A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196369611 | ||||||
| chr1:196369656
|
C | A | 1 | a0001c0001t0001g0021 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.1403+3484G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196369656 | ||||||
| chr1:196369785
|
T | C | 15 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(12): Show | 15 | HG01109.hp2 HG01261.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.1403+3355A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196369785 | ||||||
| chr1:196369896
|
A | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1403+3244T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196369896 | ||||||
| chr1:196369934
|
G | C | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1403+3206C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196369934 | ||||||
| chr1:196370169
|
T | C | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1403+2971A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196370169 | ||||||
| chr1:196370434
|
A | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1403+2706T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196370434 | ||||||
| chr1:196370525
|
G | A | 68 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(65): Show | 68 | HG00323.hp1 HG00639.hp1 HG00735.hp2 others(65): Show |
intron_variant | MODIFIER | c.1403+2615C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196370525 | ||||||
| chr1:196370554
|
G | A | 134 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(131): Show | 134 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(131): Show |
intron_variant | MODIFIER | c.1403+2586C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196370554 | ||||||
| chr1:196370555
|
C | A | 135 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(132): Show | 135 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(132): Show |
intron_variant | MODIFIER | c.1403+2585G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196370555 | ||||||
| chr1:196370579
|
A | G | 1 | a0001c0001t0007g0119 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.1403+2561T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196370579 | ||||||
| chr1:196370979
|
T | C | 1 | a0001c0001t0003g0103 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1403+2161A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196370979 | ||||||
| chr1:196371147
|
GC | G | 3 | a0001c0001t0001g0027a0001c0001t0002g0028a0001c0001t0002g0029 | 3 | NA18984.hp1 NA19009.hp2 NA19062.hp2 |
intron_variant | MODIFIER | c.1403+1992delG | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196371147 | ||||||
| chr1:196371220
|
C | CA | 29 | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0036others(26): Show | 29 | HG00639.hp2 HG00741.hp2 HG01106.hp1 others(26): Show |
intron_variant | MODIFIER | c.1403+1919dupT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196371220 | ||||||
| chr1:196371220
|
C | CAA | 23 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(20): Show | 23 | HG00639.hp1 HG00673.hp2 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.1403+1918_1403+191 others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196371220 | ||||||
| chr1:196371220
|
C | CAAA | 17 | a0001c0001t0001g0011a0001c0001t0001g0093a0001c0001t0001g0095others(14): Show | 17 | HG01074.hp1 HG01109.hp2 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.1403+1917_1403+191 others(7): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196371220 | ||||||
| chr1:196371220
|
CA | C | 8 | a0001c0001t0001g0024a0001c0003t0001g0108a0001c0003t0001g0109others(5): Show | 8 | HG00323.hp1 HG01081.hp2 HG02280.hp1 others(5): Show |
intron_variant | MODIFIER | c.1403+1919delT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196371220 | ||||||
| chr1:196371287
|
T | C | 5 | a0001c0001t0003g0035a0001c0001t0003g0082a0001c0001t0003g0103others(2): Show | 5 | HG02451.hp1 HG02723.hp1 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.1403+1853A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196371287 | ||||||
| chr1:196371883
|
T | C | 1 | a0001c0001t0001g0062 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1403+1257A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196371883 | ||||||
| chr1:196372234
|
T | C | 21 | a0001c0001t0001g0027a0001c0001t0002g0007a0001c0001t0002g0028others(18): Show | 21 | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(18): Show |
intron_variant | MODIFIER | c.1403+906A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196372234 | ||||||
| chr1:196372331
|
A | T | 1 | a0001c0001t0003g0035 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1403+809T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196372331 | ||||||
| chr1:196372475
|
T | G | 1 | a0001c0001t0009g0038 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1403+665A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196372475 | ||||||
| chr1:196372588
|
C | T | 1 | a0001c0001t0001g0134 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1403+552G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196372588 | ||||||
| chr1:196372852
|
C | G | 1 | a0001c0001t0001g0128 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.1403+288G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196372852 | ||||||
| chr1:196373025
|
G | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1403+115C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196373025 | ||||||
| chr1:196373028
|
T | C | 4 | a0001c0001t0003g0035a0001c0001t0003g0082a0001c0001t0005g0100others(1): Show | 4 | HG02451.hp1 HG03130.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.1403+112A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | 196373028 | ||||||
| chr1:196373314
|
A | G | 15 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(12): Show | 15 | HG01109.hp2 HG01261.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.1295-66T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196373314 | ||||||
| chr1:196373328
|
A | G | 4 | a0001c0003t0001g0108a0001c0003t0001g0109a0001c0003t0001g0111others(1): Show | 4 | HG02280.hp2 NA18522.hp2 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.1295-80T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196373328 | ||||||
| chr1:196373381
|
G | GTGC | 4 | a0001c0003t0001g0108a0001c0003t0001g0109a0001c0003t0001g0111others(1): Show | 4 | HG02280.hp2 NA18522.hp2 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.1295-136_1295-134d others(5): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196373381 | ||||||
| chr1:196373466
|
C | T | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.1295-218G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196373466 | ||||||
| chr1:196373829
|
T | C | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.1295-581A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196373829 | ||||||
| chr1:196374125
|
T | C | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1295-877A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196374125 | ||||||
| chr1:196374160
|
G | A | 1 | a0001c0001t0001g0102 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1295-912C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196374160 | ||||||
| chr1:196374356
|
G | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1295-1108C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196374356 | ||||||
| chr1:196374756
|
T | A | 15 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(12): Show | 15 | HG01109.hp2 HG01261.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.1295-1508A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196374756 | ||||||
| chr1:196374796
|
C | T | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.1295-1548G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196374796 | ||||||
| chr1:196375244
|
C | CA | 75 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(72): Show | 75 | HG00323.hp1 HG00639.hp1 HG00735.hp2 others(72): Show |
intron_variant | MODIFIER | c.1295-1997_1295-199 others(5): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196375244 | ||||||
| chr1:196375252
|
A | G | 1 | a0001c0001t0001g0052 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.1295-2004T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196375252 | ||||||
| chr1:196375256
|
T | C | 1 | a0001c0001t0001g0039 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1295-2008A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196375256 | ||||||
| chr1:196375265
|
C | T | 3 | a0001c0005t0001g0014a0001c0005t0001g0015a0001c0005t0001g0016 | 3 | HG02257.hp1 HG02630.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.1295-2017G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196375265 | ||||||
| chr1:196375269
|
T | A | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.1295-2021A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196375269 | ||||||
| chr1:196375398
|
A | T | 1 | a0001c0001t0001g0131 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1295-2150T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196375398 | ||||||
| chr1:196375497
|
A | G | 1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.1295-2249T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196375497 | ||||||
| chr1:196375504
|
G | A | 1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.1295-2256C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196375504 | ||||||
| chr1:196375586
|
T | C | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.1295-2338A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196375586 | ||||||
| chr1:196375770
|
T | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1295-2522A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196375770 | ||||||
| chr1:196376063
|
C | T | 4 | a0001c0003t0001g0108a0001c0003t0001g0109a0001c0003t0001g0111others(1): Show | 4 | HG02280.hp2 NA18522.hp2 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.1295-2815G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196376063 | ||||||
| chr1:196376497
|
C | A | 1 | a0001c0001t0001g0072 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.1295-3249G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196376497 | ||||||
| chr1:196376542
|
G | T | 1 | a0001c0001t0001g0072 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.1295-3294C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196376542 | ||||||
| chr1:196376556
|
G | A | 1 | a0001c0001t0006g0001 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.1295-3308C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196376556 | ||||||
| chr1:196376662
|
T | C | 1 | a0001c0001t0003g0082 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1295-3414A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196376662 | ||||||
| chr1:196376812
|
G | T | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.1295-3564C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196376812 | ||||||
| chr1:196377325
|
A | G | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.1295-4077T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196377325 | ||||||
| chr1:196377423
|
A | G | 15 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(12): Show | 15 | HG01109.hp2 HG01261.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.1295-4175T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196377423 | ||||||
| chr1:196377461
|
C | G | 2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.1295-4213G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196377461 | ||||||
| chr1:196377607
|
A | G | 4 | a0001c0003t0001g0108a0001c0003t0001g0109a0001c0003t0001g0111others(1): Show | 4 | HG02280.hp2 NA18522.hp2 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.1295-4359T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196377607 | ||||||
| chr1:196377695
|
T | G | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.1295-4447A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196377695 | ||||||
| chr1:196377936
|
G | A | 58 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(55): Show | 58 | HG00323.hp1 HG00639.hp1 HG00735.hp2 others(55): Show |
intron_variant | MODIFIER | c.1295-4688C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196377936 | ||||||
| chr1:196377946
|
T | A | 4 | a0001c0003t0001g0108a0001c0003t0001g0109a0001c0003t0001g0111others(1): Show | 4 | HG02280.hp2 NA18522.hp2 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.1295-4698A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196377946 | ||||||
| chr1:196378110
|
G | A | 19 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(16): Show | 19 | HG01109.hp2 HG01261.hp1 HG02451.hp1 others(16): Show |
intron_variant | MODIFIER | c.1295-4862C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196378110 | ||||||
| chr1:196378127
|
C | T | 9 | a0001c0001t0001g0039a0001c0001t0001g0090a0001c0001t0009g0038others(6): Show | 9 | HG01891.hp1 HG02258.hp1 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.1295-4879G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196378127 | ||||||
| chr1:196378515
|
C | T | 1 | a0001c0001t0001g0006 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.1295-5267G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196378515 | ||||||
| chr1:196378626
|
C | G | 1 | a0001c0001t0001g0013 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1295-5378G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196378626 | ||||||
| chr1:196378680
|
C | T | 71 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(68): Show | 71 | HG00323.hp1 HG00639.hp1 HG00735.hp2 others(68): Show |
intron_variant | MODIFIER | c.1295-5432G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196378680 | ||||||
| chr1:196378707
|
T | C | 1 | a0001c0001t0001g0022 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1295-5459A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196378707 | ||||||
| chr1:196378730
|
A | G | 1 | a0001c0001t0001g0059 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.1295-5482T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196378730 | ||||||
| chr1:196378792
|
T | C | 21 | a0001c0001t0001g0027a0001c0001t0001g0046a0001c0001t0001g0071others(18): Show | 21 | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(18): Show |
intron_variant | MODIFIER | c.1295-5544A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196378792 | ||||||
| chr1:196378810
|
T | C | 8 | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0001t0003g0082others(5): Show | 8 | HG01891.hp1 HG02280.hp2 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.1295-5562A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196378810 | ||||||
| chr1:196378813
|
T | TTA | 3 | a0001c0001t0001g0090a0001c0001t0001g0120a0001c0007t0001g0091 | 3 | HG02258.hp1 HG02280.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.1295-5567_1295-556 others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196378813 | ||||||
| chr1:196378950
|
C | T | 5 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0095others(2): Show | 5 | HG01109.hp2 HG02818.hp2 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.1295-5702G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196378950 | ||||||
| chr1:196379242
|
T | A | 1 | a0001c0002t0001g0121 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1295-5994A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196379242 | ||||||
| chr1:196379295
|
G | A | 11 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(8): Show | 11 | HG02257.hp1 HG02451.hp1 HG02630.hp1 others(8): Show |
intron_variant | MODIFIER | c.1295-6047C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196379295 | ||||||
| chr1:196379565
|
T | TC | 2 | a0001c0001t0001g0053a0001c0001t0001g0071 | 2 | HG01175.hp2 HG01261.hp1 |
intron_variant | MODIFIER | c.1295-6318_1295-631 others(5): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196379565 | ||||||
| chr1:196379565
|
T | TTC | 7 | a0001c0001t0001g0057a0001c0001t0001g0059a0001c0001t0001g0062others(4): Show | 7 | HG02257.hp2 HG02280.hp1 HG03041.hp1 others(4): Show |
intron_variant | MODIFIER | c.1295-6319_1295-631 others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196379565 | ||||||
| chr1:196379565
|
T | TTCTC | 8 | a0001c0001t0001g0013a0001c0001t0001g0064a0001c0001t0001g0068others(5): Show | 8 | HG00323.hp2 HG01106.hp2 HG01168.hp2 others(5): Show |
intron_variant | MODIFIER | c.1295-6321_1295-631 others(8): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196379565 | ||||||
| chr1:196379565
|
T | TTCTCTC | 4 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0010others(1): Show | 4 | HG02717.hp2 HG02895.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.1295-6323_1295-631 others(10): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196379565 | ||||||
| chr1:196379565
|
T | TTCTCTCT others(1): Show |
4 | a0001c0001t0002g0030a0001c0001t0002g0034a0001c0001t0002g0113others(1): Show | 4 | HG01168.hp1 HG01346.hp1 HG04115.hp1 others(1): Show |
intron_variant | MODIFIER | c.1295-6325_1295-631 others(12): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196379565 | ||||||
| chr1:196379565
|
T | TTCTCTCT others(3): Show |
5 | a0001c0001t0002g0051a0001c0001t0002g0116a0001c0001t0007g0119others(2): Show | 5 | HG02630.hp1 HG02647.hp1 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.1295-6327_1295-631 others(14): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196379565 | ||||||
| chr1:196379565
|
T | TTCTCTCT others(5): Show |
4 | a0001c0001t0002g0048a0001c0001t0002g0049a0001c0001t0002g0076others(1): Show | 4 | HG00639.hp1 HG02257.hp1 HG02809.hp2 others(1): Show |
intron_variant | MODIFIER | c.1295-6329_1295-631 others(16): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196379565 | ||||||
| chr1:196379565
|
T | TTCTCTCT others(7): Show |
1 | a0001c0001t0002g0050 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.1295-6331_1295-631 others(18): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196379565 | ||||||
| chr1:196379565
|
TTC | T | 8 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(5): Show | 8 | HG01891.hp2 HG02630.hp2 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.1295-6319_1295-631 others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196379565 | ||||||
| chr1:196379565
|
TTCTC | T | 10 | a0001c0001t0001g0042a0001c0001t0001g0055a0001c0001t0001g0058others(7): Show | 10 | HG00140.hp1 HG00323.hp1 HG00673.hp1 others(7): Show |
intron_variant | MODIFIER | c.1295-6321_1295-631 others(8): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196379565 | ||||||
| chr1:196379565
|
TTCTCTC | T | 20 | a0001c0001t0001g0023a0001c0001t0001g0036a0001c0001t0001g0039others(17): Show | 20 | HG01109.hp2 HG02145.hp2 HG02451.hp1 others(17): Show |
intron_variant | MODIFIER | c.1295-6323_1295-631 others(10): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196379565 | ||||||
| chr1:196379565
|
TTCTCTCT others(1): Show |
T | 31 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0017others(28): Show | 31 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(28): Show |
intron_variant | MODIFIER | c.1295-6325_1295-631 others(12): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196379565 | ||||||
| chr1:196379565
|
TTCTCTCT others(3): Show |
T | 11 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(8): Show | 11 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(8): Show |
intron_variant | MODIFIER | c.1295-6327_1295-631 others(14): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196379565 | ||||||
| chr1:196379565
|
TTCTCTCT others(9): Show |
T | 2 | a0001c0001t0001g0044a0001c0006t0001g0061 | 2 | HG01109.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.1295-6333_1295-631 others(20): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196379565 | ||||||
| chr1:196379649
|
C | T | 95 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(92): Show | 95 | HG00140.hp2 HG00323.hp1 HG00639.hp1 others(92): Show |
intron_variant | MODIFIER | c.1295-6401G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196379649 | ||||||
| chr1:196380022
|
C | T | 95 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(92): Show | 95 | HG00140.hp2 HG00323.hp1 HG00639.hp1 others(92): Show |
intron_variant | MODIFIER | c.1295-6774G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196380022 | ||||||
| chr1:196380035
|
A | G | 1 | a0001c0007t0001g0091 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1295-6787T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196380035 | ||||||
| chr1:196380156
|
A | T | 1 | a0001c0001t0003g0082 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1295-6908T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196380156 | ||||||
| chr1:196380295
|
A | AT | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1295-7048dupA | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196380295 | ||||||
| chr1:196380634
|
C | T | 1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.1295-7386G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196380634 | ||||||
| chr1:196380779
|
G | T | 2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.1295-7531C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196380779 | ||||||
| chr1:196380949
|
G | T | 21 | a0001c0001t0001g0027a0001c0001t0002g0007a0001c0001t0002g0028others(18): Show | 21 | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(18): Show |
intron_variant | MODIFIER | c.1295-7701C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196380949 | ||||||
| chr1:196381462
|
T | TTA | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1295-8216_1295-821 others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196381462 | ||||||
| chr1:196381462
|
TTA | T | 3 | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0001t0003g0082 | 3 | HG03130.hp1 HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.1295-8216_1295-821 others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196381462 | ||||||
| chr1:196381657
|
G | C | 6 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(3): Show | 6 | HG02622.hp2 HG02723.hp1 HG02965.hp1 others(3): Show |
intron_variant | MODIFIER | c.1295-8409C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196381657 | ||||||
| chr1:196381677
|
T | C | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1295-8429A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196381677 | ||||||
| chr1:196381770
|
A | AC | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.1295-8523dupG | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196381770 | ||||||
| chr1:196381780
|
C | G | 1 | a0001c0001t0001g0074 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.1295-8532G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196381780 | ||||||
| chr1:196381955
|
T | C | 7 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(4): Show | 7 | HG02647.hp2 HG02809.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.1295-8707A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196381955 | ||||||
| chr1:196382020
|
A | C | 23 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0017others(20): Show | 23 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(20): Show |
intron_variant | MODIFIER | c.1295-8772T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196382020 | ||||||
| chr1:196382082
|
A | AATTT | 2 | a0001c0001t0001g0101a0001c0001t0003g0104 | 2 | HG02145.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.1295-8838_1295-883 others(8): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196382082 | ||||||
| chr1:196382082
|
A | AATTTATT others(1): Show |
3 | a0001c0001t0001g0090a0001c0001t0003g0082a0001c0007t0001g0091 | 3 | HG02258.hp1 HG02280.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.1295-8842_1295-883 others(12): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196382082 | ||||||
| chr1:196382082
|
A | AATTTATT others(5): Show |
5 | a0001c0001t0001g0003a0001c0001t0001g0039a0001c0001t0001g0131others(2): Show | 5 | HG02451.hp1 HG02717.hp2 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.1295-8846_1295-883 others(16): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196382082 | ||||||
| chr1:196382082
|
A | AATTTATT others(9): Show |
23 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(20): Show | 23 | HG00323.hp1 HG00639.hp1 HG00741.hp1 others(20): Show |
intron_variant | MODIFIER | c.1295-8850_1295-883 others(20): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196382082 | ||||||
| chr1:196382082
|
A | AATTTATT others(13): Show |
50 | a0001c0001t0001g0018a0001c0001t0001g0027a0001c0001t0001g0042others(47): Show | 50 | HG00140.hp1 HG00323.hp2 HG00673.hp1 others(47): Show |
intron_variant | MODIFIER | c.1295-8854_1295-883 others(24): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196382082 | ||||||
| chr1:196382082
|
A | AATTTATT others(17): Show |
1 | a0001c0001t0001g0078 | 1 | NA18984.hp2 | intron_variant | MODIFIER | c.1295-8858_1295-883 others(28): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196382082 | ||||||
| chr1:196382271
|
A | AT | 28 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0017others(25): Show | 28 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(25): Show |
intron_variant | MODIFIER | c.1295-9024dupA | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196382271 | ||||||
| chr1:196382636
|
A | T | 83 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(80): Show | 83 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(80): Show |
intron_variant | MODIFIER | c.1295-9388T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196382636 | ||||||
| chr1:196382703
|
C | A | 1 | a0001c0001t0001g0101 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1295-9455G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196382703 | ||||||
| chr1:196382777
|
G | C | 23 | a0001c0001t0001g0027a0001c0001t0002g0007a0001c0001t0002g0028others(20): Show | 23 | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(20): Show |
intron_variant | MODIFIER | c.1295-9529C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196382777 | ||||||
| chr1:196382834
|
G | A | 1 | a0001c0001t0005g0100 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1295-9586C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196382834 | ||||||
| chr1:196383244
|
T | G | 1 | a0001c0001t0009g0038 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1295-9996A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196383244 | ||||||
| chr1:196383330
|
T | C | 4 | a0001c0001t0002g0007a0001c0001t0002g0032a0001c0001t0002g0033others(1): Show | 4 | HG00735.hp2 HG01106.hp2 HG01346.hp1 others(1): Show |
intron_variant | MODIFIER | c.1295-10082A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196383330 | ||||||
| chr1:196383409
|
G | A | 4 | a0001c0001t0002g0007a0001c0001t0002g0032a0001c0001t0002g0033others(1): Show | 4 | HG00735.hp2 HG01106.hp2 HG01346.hp1 others(1): Show |
intron_variant | MODIFIER | c.1295-10161C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196383409 | ||||||
| chr1:196383597
|
G | A | 1 | a0001c0001t0001g0057 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1295-10349C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196383597 | ||||||
| chr1:196383911
|
C | T | 83 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(80): Show | 83 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(80): Show |
intron_variant | MODIFIER | c.1295-10663G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196383911 | ||||||
| chr1:196383959
|
C | T | 1 | a0001c0001t0001g0087 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.1295-10711G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196383959 | ||||||
| chr1:196383977
|
G | C | 10 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(7): Show | 10 | HG02257.hp1 HG02451.hp1 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.1295-10729C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196383977 | ||||||
| chr1:196384002
|
G | C | 4 | a0001c0001t0002g0007a0001c0001t0002g0032a0001c0001t0002g0033others(1): Show | 4 | HG00735.hp2 HG01106.hp2 HG01346.hp1 others(1): Show |
intron_variant | MODIFIER | c.1295-10754C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196384002 | ||||||
| chr1:196384091
|
T | C | 1 | a0001c0001t0001g0107 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.1295-10843A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196384091 | ||||||
| chr1:196384108
|
T | A | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.1295-10860A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196384108 | ||||||
| chr1:196384254
|
T | G | 10 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(7): Show | 10 | HG00323.hp1 HG01081.hp2 HG02165.hp2 others(7): Show |
intron_variant | MODIFIER | c.1295-11006A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196384254 | ||||||
| chr1:196384296
|
A | G | 1 | a0001c0001t0002g0050 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.1295-11048T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196384296 | ||||||
| chr1:196384346
|
T | C | 1 | a0001c0001t0002g0049 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.1295-11098A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196384346 | ||||||
| chr1:196384450
|
T | C | 1 | a0001c0001t0001g0073 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.1295-11202A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196384450 | ||||||
| chr1:196384564
|
G | A | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1295-11316C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196384564 | ||||||
| chr1:196384591
|
T | C | 1 | a0001c0001t0001g0047 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.1295-11343A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196384591 | ||||||
| chr1:196384658
|
T | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1295-11410A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196384658 | ||||||
| chr1:196384707
|
C | CA | 7 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(4): Show | 7 | HG02647.hp2 HG02809.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.1295-11460dupT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196384707 | ||||||
| chr1:196384707
|
CA | C | 96 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(93): Show | 96 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(93): Show |
intron_variant | MODIFIER | c.1295-11460delT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196384707 | ||||||
| chr1:196384732
|
T | A | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.1295-11484A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196384732 | ||||||
| chr1:196384873
|
G | A | 1 | a0001c0001t0001g0101 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1295-11625C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196384873 | ||||||
| chr1:196384967
|
C | T | 131 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(128): Show | 131 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(128): Show |
intron_variant | MODIFIER | c.1295-11719G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196384967 | ||||||
| chr1:196385420
|
A | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1295-12172T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196385420 | ||||||
| chr1:196385530
|
A | G | 2 | a0001c0001t0001g0090a0001c0007t0001g0091 | 2 | HG02258.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.1295-12282T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196385530 | ||||||
| chr1:196385535
|
T | C | 1 | a0001c0001t0011g0066 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.1295-12287A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196385535 | ||||||
| chr1:196385766
|
T | TA | 36 | a0001c0001t0001g0018a0001c0001t0001g0041a0001c0001t0001g0042others(33): Show | 36 | HG00140.hp1 HG00323.hp2 HG00673.hp1 others(33): Show |
intron_variant | MODIFIER | c.1295-12519dupT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196385766 | ||||||
| chr1:196385766
|
T | TAA | 6 | a0001c0001t0001g0023a0001c0001t0001g0044a0001c0001t0001g0084others(3): Show | 6 | HG01109.hp1 HG01496.hp1 HG01981.hp1 others(3): Show |
intron_variant | MODIFIER | c.1295-12520_1295-12 others(8): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196385766 | ||||||
| chr1:196385772
|
A | AAAAT | 11 | a0001c0001t0001g0027a0001c0001t0002g0007a0001c0001t0002g0028others(8): Show | 11 | HG00735.hp2 HG00741.hp1 HG01106.hp2 others(8): Show |
intron_variant | MODIFIER | c.1295-12525_1295-12 others(10): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196385772 | ||||||
| chr1:196385772
|
A | AAAATAT | 6 | a0001c0001t0002g0048a0001c0001t0002g0049a0001c0001t0002g0051others(3): Show | 6 | HG00639.hp1 HG02809.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.1295-12525_1295-12 others(12): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196385772 | ||||||
| chr1:196385772
|
A | T | 11 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(8): Show | 11 | HG02257.hp1 HG02451.hp1 HG02630.hp1 others(8): Show |
intron_variant | MODIFIER | c.1295-12524T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196385772 | ||||||
| chr1:196385774
|
T | A | 71 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0017others(68): Show | 71 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(68): Show |
intron_variant | MODIFIER | c.1295-12526A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196385774 | ||||||
| chr1:196385776
|
T | A | 39 | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0041others(36): Show | 39 | HG00140.hp1 HG00323.hp2 HG00639.hp2 others(36): Show |
intron_variant | MODIFIER | c.1295-12528A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196385776 | ||||||
| chr1:196385778
|
T | A | 4 | a0001c0001t0001g0047a0001c0001t0001g0071a0001c0001t0001g0075others(1): Show | 4 | HG01261.hp1 HG01346.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.1295-12530A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196385778 | ||||||
| chr1:196385780
|
T | A | 1 | a0001c0001t0001g0047 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.1295-12532A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196385780 | ||||||
| chr1:196386186
|
G | A | 10 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(7): Show | 10 | HG02257.hp1 HG02451.hp1 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.1294+12377C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196386186 | ||||||
| chr1:196386248
|
A | G | 1 | a0001c0004t0004g0133 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.1294+12315T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196386248 | ||||||
| chr1:196386311
|
A | C | 1 | a0001c0001t0001g0024 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.1294+12252T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196386311 | ||||||
| chr1:196386358
|
A | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1294+12205T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196386358 | ||||||
| chr1:196386380
|
C | A | 1 | a0001c0001t0002g0032 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.1294+12183G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196386380 | ||||||
| chr1:196386394
|
T | C | 40 | a0001c0001t0001g0018a0001c0001t0001g0041a0001c0001t0001g0042others(37): Show | 40 | HG00140.hp1 HG00323.hp2 HG00673.hp1 others(37): Show |
intron_variant | MODIFIER | c.1294+12169A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196386394 | ||||||
| chr1:196386568
|
A | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1294+11995T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196386568 | ||||||
| chr1:196386744
|
G | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1294+11819C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196386744 | ||||||
| chr1:196386912
|
A | G | 1 | a0001c0001t0001g0134 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1294+11651T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196386912 | ||||||
| chr1:196386939
|
A | G | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.1294+11624T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196386939 | ||||||
| chr1:196386978
|
T | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1294+11585A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196386978 | ||||||
| chr1:196387178
|
C | G | 3 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0085 | 3 | HG02622.hp2 HG02965.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1294+11385G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196387178 | ||||||
| chr1:196387199
|
G | T | 6 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(3): Show | 6 | HG02647.hp2 HG02809.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.1294+11364C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196387199 | ||||||
| chr1:196387287
|
A | G | 12 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(9): Show | 12 | HG01109.hp2 HG02572.hp1 HG02717.hp1 others(9): Show |
intron_variant | MODIFIER | c.1294+11276T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196387287 | ||||||
| chr1:196387453
|
C | A | 1 | a0001c0001t0001g0084 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1294+11110G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196387453 | ||||||
| chr1:196387670
|
T | C | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1294+10893A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196387670 | ||||||
| chr1:196387730
|
C | A | 1 | a0001c0001t0002g0049 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.1294+10833G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196387730 | ||||||
| chr1:196387767
|
G | C | 18 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(15): Show | 18 | HG01109.hp2 HG02109.hp1 HG02145.hp1 others(15): Show |
intron_variant | MODIFIER | c.1294+10796C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196387767 | ||||||
| chr1:196387921
|
C | G | 1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.1294+10642G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196387921 | ||||||
| chr1:196388091
|
C | A | 4 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(1): Show | 4 | HG02717.hp2 HG02895.hp2 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.1294+10472G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196388091 | ||||||
| chr1:196388267
|
C | T | 21 | a0001c0001t0001g0027a0001c0001t0002g0007a0001c0001t0002g0028others(18): Show | 21 | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(18): Show |
intron_variant | MODIFIER | c.1294+10296G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196388267 | ||||||
| chr1:196388332
|
G | A | 1 | a0001c0001t0001g0101 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1294+10231C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196388332 | ||||||
| chr1:196388491
|
T | C | 21 | a0001c0001t0001g0027a0001c0001t0002g0007a0001c0001t0002g0028others(18): Show | 21 | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(18): Show |
intron_variant | MODIFIER | c.1294+10072A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196388491 | ||||||
| chr1:196388553
|
G | C | 1 | a0001c0001t0001g0072 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.1294+10010C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196388553 | ||||||
| chr1:196388616
|
A | G | 23 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0017others(20): Show | 23 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(20): Show |
intron_variant | MODIFIER | c.1294+9947T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196388616 | ||||||
| chr1:196389159
|
T | C | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1294+9404A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196389159 | ||||||
| chr1:196389338
|
G | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1294+9225C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196389338 | ||||||
| chr1:196389458
|
T | C | 18 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(15): Show | 18 | HG01109.hp2 HG02109.hp1 HG02145.hp1 others(15): Show |
intron_variant | MODIFIER | c.1294+9105A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196389458 | ||||||
| chr1:196389460
|
T | C | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.1294+9103A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196389460 | ||||||
| chr1:196389495
|
T | A | 1 | a0001c0001t0001g0084 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1294+9068A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196389495 | ||||||
| chr1:196389649
|
A | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1294+8914T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196389649 | ||||||
| chr1:196390021
|
C | A | 1 | a0001c0001t0005g0106 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1294+8542G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196390021 | ||||||
| chr1:196390048
|
C | T | 1 | a0001c0001t0001g0019 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.1294+8515G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196390048 | ||||||
| chr1:196390486
|
G | A | 1 | a0001c0001t0001g0023 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.1294+8077C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196390486 | ||||||
| chr1:196390509
|
C | T | 5 | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0001g0056others(2): Show | 5 | HG01261.hp1 HG01346.hp2 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.1294+8054G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196390509 | ||||||
| chr1:196390518
|
T | C | 12 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(9): Show | 12 | HG01109.hp2 HG02572.hp1 HG02717.hp1 others(9): Show |
intron_variant | MODIFIER | c.1294+8045A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196390518 | ||||||
| chr1:196390535
|
T | C | 83 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(80): Show | 83 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(80): Show |
intron_variant | MODIFIER | c.1294+8028A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196390535 | ||||||
| chr1:196390540
|
C | A | 21 | a0001c0001t0001g0027a0001c0001t0002g0007a0001c0001t0002g0028others(18): Show | 21 | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(18): Show |
intron_variant | MODIFIER | c.1294+8023G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196390540 | ||||||
| chr1:196390701
|
AT | A | 23 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0017others(20): Show | 23 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(20): Show |
intron_variant | MODIFIER | c.1294+7861delA | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196390701 | ||||||
| chr1:196390858
|
C | T | 2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.1294+7705G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196390858 | ||||||
| chr1:196390890
|
C | CT | 34 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(31): Show | 34 | HG00735.hp1 HG01109.hp2 HG02109.hp1 others(31): Show |
intron_variant | MODIFIER | c.1294+7672dupA | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196390890 | ||||||
| chr1:196390890
|
C | CTT | 29 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0017others(26): Show | 29 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(26): Show |
intron_variant | MODIFIER | c.1294+7671_1294+767 others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196390890 | ||||||
| chr1:196390890
|
C | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1294+7673G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196390890 | ||||||
| chr1:196390907
|
T | A | 1 | a0001c0001t0002g0029 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.1294+7656A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196390907 | ||||||
| chr1:196390908
|
T | A | 19 | a0001c0001t0001g0027a0001c0001t0002g0007a0001c0001t0002g0028others(16): Show | 19 | HG00639.hp1 HG00735.hp2 HG01074.hp1 others(16): Show |
intron_variant | MODIFIER | c.1294+7655A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196390908 | ||||||
| chr1:196390908
|
TA | T | 5 | a0001c0001t0001g0045a0001c0001t0001g0058a0001c0001t0001g0077others(2): Show | 5 | HG00140.hp1 HG03130.hp2 HG03492.hp2 others(2): Show |
intron_variant | MODIFIER | c.1294+7654delT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196390908 | ||||||
| chr1:196390909
|
A | T | 48 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0013others(45): Show | 48 | HG00140.hp2 HG00323.hp2 HG00639.hp2 others(45): Show |
intron_variant | MODIFIER | c.1294+7654T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196390909 | ||||||
| chr1:196390910
|
A | T | 1 | a0001c0001t0001g0036 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1294+7653T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196390910 | ||||||
| chr1:196391186
|
A | C | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.1294+7377T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196391186 | ||||||
| chr1:196391231
|
C | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1294+7332G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196391231 | ||||||
| chr1:196391369
|
T | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1294+7194A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196391369 | ||||||
| chr1:196391465
|
A | T | 40 | a0001c0001t0001g0018a0001c0001t0001g0041a0001c0001t0001g0042others(37): Show | 40 | HG00140.hp1 HG00323.hp2 HG00673.hp1 others(37): Show |
intron_variant | MODIFIER | c.1294+7098T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196391465 | ||||||
| chr1:196391478
|
T | C | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1294+7085A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196391478 | ||||||
| chr1:196391522
|
C | T | 12 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(9): Show | 12 | HG01109.hp2 HG02572.hp1 HG02717.hp1 others(9): Show |
intron_variant | MODIFIER | c.1294+7041G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196391522 | ||||||
| chr1:196391639
|
G | A | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.1294+6924C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196391639 | ||||||
| chr1:196391714
|
T | C | 1 | a0001c0001t0003g0082 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1294+6849A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196391714 | ||||||
| chr1:196391727
|
T | C | 1 | a0001c0002t0001g0121 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1294+6836A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196391727 | ||||||
| chr1:196391856
|
A | T | 7 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(4): Show | 7 | HG02647.hp2 HG02809.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.1294+6707T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196391856 | ||||||
| chr1:196392257
|
G | A | 1 | a0001c0001t0003g0082 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1294+6306C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196392257 | ||||||
| chr1:196392278
|
A | G | 3 | a0001c0001t0001g0090a0001c0001t0001g0120a0001c0007t0001g0091 | 3 | HG02258.hp1 HG02280.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.1294+6285T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196392278 | ||||||
| chr1:196392281
|
C | T | 1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.1294+6282G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196392281 | ||||||
| chr1:196392367
|
G | T | 23 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0017others(20): Show | 23 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(20): Show |
intron_variant | MODIFIER | c.1294+6196C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196392367 | ||||||
| chr1:196393206
|
A | G | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.1294+5357T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196393206 | ||||||
| chr1:196393224
|
C | T | 1 | a0001c0001t0001g0045 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.1294+5339G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196393224 | ||||||
| chr1:196393601
|
A | ATG | 23 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0017others(20): Show | 23 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(20): Show |
intron_variant | MODIFIER | c.1294+4960_1294+496 others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196393601 | ||||||
| chr1:196393747
|
G | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1294+4816C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196393747 | ||||||
| chr1:196394108
|
T | TA | 7 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(4): Show | 7 | HG02647.hp2 HG02809.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.1294+4454dupT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196394108 | ||||||
| chr1:196394165
|
G | C | 1 | a0001c0001t0003g0082 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1294+4398C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196394165 | ||||||
| chr1:196394305
|
A | T | 1 | a0001c0001t0001g0060 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.1294+4258T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196394305 | ||||||
| chr1:196394414
|
G | A | 23 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0017others(20): Show | 23 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(20): Show |
intron_variant | MODIFIER | c.1294+4149C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196394414 | ||||||
| chr1:196394528
|
C | A | 21 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0044others(18): Show | 21 | HG00140.hp1 HG00323.hp2 HG00673.hp1 others(18): Show |
intron_variant | MODIFIER | c.1294+4035G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196394528 | ||||||
| chr1:196394540
|
A | T | 1 | a0001c0001t0001g0094 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.1294+4023T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196394540 | ||||||
| chr1:196394587
|
C | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1294+3976G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196394587 | ||||||
| chr1:196394686
|
A | G | 123 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(120): Show | 123 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(120): Show |
intron_variant | MODIFIER | c.1294+3877T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196394686 | ||||||
| chr1:196394706
|
A | C | 1 | a0001c0001t0001g0019 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.1294+3857T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196394706 | ||||||
| chr1:196394985
|
GA | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1294+3577delT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196394985 | ||||||
| chr1:196394986
|
A | G | 80 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(77): Show | 80 | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(77): Show |
intron_variant | MODIFIER | c.1294+3577T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196394986 | ||||||
| chr1:196394987
|
T | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1294+3576A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196394987 | ||||||
| chr1:196395046
|
A | G | 23 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0017others(20): Show | 23 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(20): Show |
intron_variant | MODIFIER | c.1294+3517T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196395046 | ||||||
| chr1:196395071
|
T | C | 3 | a0001c0005t0001g0014a0001c0005t0001g0015a0001c0005t0001g0016 | 3 | HG02257.hp1 HG02630.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.1294+3492A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196395071 | ||||||
| chr1:196395235
|
T | C | 3 | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0001t0003g0082 | 3 | HG03130.hp1 HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.1294+3328A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196395235 | ||||||
| chr1:196395697
|
C | T | 10 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(7): Show | 10 | HG02257.hp1 HG02451.hp1 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.1294+2866G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196395697 | ||||||
| chr1:196395773
|
T | C | 2 | a0001c0001t0002g0048a0001c0001t0002g0076 | 2 | HG02809.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.1294+2790A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196395773 | ||||||
| chr1:196396134
|
G | C | 1 | a0001c0001t0001g0075 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1294+2429C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196396134 | ||||||
| chr1:196396387
|
G | A | 6 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(3): Show | 6 | HG02622.hp2 HG02723.hp1 HG02965.hp1 others(3): Show |
intron_variant | MODIFIER | c.1294+2176C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196396387 | ||||||
| chr1:196396582
|
ACT | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1294+1979_1294+198 others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196396582 | ||||||
| chr1:196396684
|
A | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1294+1879T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196396684 | ||||||
| chr1:196396736
|
G | C | 7 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(4): Show | 7 | HG02647.hp2 HG02809.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.1294+1827C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196396736 | ||||||
| chr1:196396878
|
G | A | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.1294+1685C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196396878 | ||||||
| chr1:196397066
|
C | A | 1 | a0001c0001t0001g0079 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.1294+1497G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196397066 | ||||||
| chr1:196397228
|
T | C | 1 | a0001c0001t0001g0135 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.1294+1335A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196397228 | ||||||
| chr1:196397251
|
A | G | 132 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(129): Show | 132 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(129): Show |
intron_variant | MODIFIER | c.1294+1312T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196397251 | ||||||
| chr1:196397285
|
T | G | 1 | a0001c0001t0001g0025 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.1294+1278A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196397285 | ||||||
| chr1:196397670
|
A | T | 7 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(4): Show | 7 | HG02647.hp2 HG02809.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.1294+893T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196397670 | ||||||
| chr1:196397723
|
C | T | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1294+840G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196397723 | ||||||
| chr1:196397821
|
C | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1294+742G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196397821 | ||||||
| chr1:196397971
|
G | A | 1 | a0001c0003t0008g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1294+592C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196397971 | ||||||
| chr1:196398176
|
G | A | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1294+387C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196398176 | ||||||
| chr1:196398516
|
A | G | 6 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(3): Show | 6 | HG02622.hp2 HG02723.hp1 HG02965.hp1 others(3): Show |
intron_variant | MODIFIER | c.1294+47T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 13/27 | chr1 | 196398516 | ||||||
| chr1:196398764
|
C | T | 1 | a0001c0001t0001g0055 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.1186-93G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196398764 | ||||||
| chr1:196398810
|
G | A | 12 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(9): Show | 12 | HG01109.hp2 HG02572.hp1 HG02717.hp1 others(9): Show |
intron_variant | MODIFIER | c.1186-139C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196398810 | ||||||
| chr1:196399037
|
A | C | 12 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(9): Show | 12 | HG01109.hp2 HG02572.hp1 HG02717.hp1 others(9): Show |
intron_variant | MODIFIER | c.1186-366T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196399037 | ||||||
| chr1:196399097
|
A | ATG | 33 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(30): Show | 33 | HG00140.hp1 HG00323.hp2 HG00673.hp1 others(30): Show |
intron_variant | MODIFIER | c.1186-428_1186-427d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196399097 | ||||||
| chr1:196399097
|
A | ATGTG | 22 | a0001c0001t0001g0027a0001c0001t0001g0074a0001c0001t0002g0007others(19): Show | 22 | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(19): Show |
intron_variant | MODIFIER | c.1186-430_1186-427d others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196399097 | ||||||
| chr1:196399097
|
A | ATGTGTG | 21 | a0001c0001t0001g0018a0001c0001t0001g0046a0001c0001t0001g0047others(18): Show | 21 | HG01168.hp2 HG01261.hp1 HG01346.hp2 others(18): Show |
intron_variant | MODIFIER | c.1186-432_1186-427d others(8): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196399097 | ||||||
| chr1:196399097
|
A | ATGTGTGT others(1): Show |
3 | a0001c0001t0001g0043a0001c0001t0001g0090a0001c0001t0002g0050 | 3 | HG01074.hp1 HG01106.hp1 HG02258.hp1 |
intron_variant | MODIFIER | c.1186-434_1186-427d others(10): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196399097 | ||||||
| chr1:196399097
|
A | G | 1 | a0001c0001t0001g0041 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.1186-426T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196399097 | ||||||
| chr1:196399111
|
GTGTC | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1186-444_1186-441d others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196399111 | ||||||
| chr1:196399115
|
C | G | 80 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(77): Show | 80 | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(77): Show |
intron_variant | MODIFIER | c.1186-444G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196399115 | ||||||
| chr1:196399614
|
C | T | 21 | a0001c0001t0001g0027a0001c0001t0002g0007a0001c0001t0002g0028others(18): Show | 21 | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(18): Show |
intron_variant | MODIFIER | c.1186-943G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196399614 | ||||||
| chr1:196400094
|
T | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1186-1423A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196400094 | ||||||
| chr1:196400152
|
C | T | 1 | a0001c0001t0005g0100 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1186-1481G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196400152 | ||||||
| chr1:196400154
|
A | G | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1186-1483T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196400154 | ||||||
| chr1:196400165
|
G | A | 1 | a0001c0001t0001g0084 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1186-1494C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196400165 | ||||||
| chr1:196400193
|
T | C | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.1186-1522A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196400193 | ||||||
| chr1:196400352
|
G | A | 1 | a0001c0004t0004g0132 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.1186-1681C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196400352 | ||||||
| chr1:196400544
|
C | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1186-1873G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196400544 | ||||||
| chr1:196400628
|
CA | C | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1186-1958delT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196400628 | ||||||
| chr1:196400729
|
A | G | 18 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(15): Show | 18 | HG01109.hp2 HG02109.hp1 HG02145.hp1 others(15): Show |
intron_variant | MODIFIER | c.1186-2058T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196400729 | ||||||
| chr1:196400817
|
G | A | 21 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0044others(18): Show | 21 | HG00140.hp1 HG00323.hp2 HG00673.hp1 others(18): Show |
intron_variant | MODIFIER | c.1186-2146C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196400817 | ||||||
| chr1:196400990
|
C | A | 1 | a0001c0001t0001g0046 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1186-2319G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196400990 | ||||||
| chr1:196401012
|
G | A | 3 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0085 | 3 | HG02622.hp2 HG02965.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1186-2341C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196401012 | ||||||
| chr1:196401093
|
C | T | 1 | a0001c0001t0001g0027 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.1186-2422G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196401093 | ||||||
| chr1:196401132
|
C | A | 3 | a0001c0001t0001g0090a0001c0001t0001g0120a0001c0007t0001g0091 | 3 | HG02258.hp1 HG02280.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.1186-2461G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196401132 | ||||||
| chr1:196401254
|
G | A | 1 | a0001c0001t0001g0057 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1186-2583C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196401254 | ||||||
| chr1:196401293
|
C | T | 1 | a0001c0001t0001g0018 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.1186-2622G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196401293 | ||||||
| chr1:196401501
|
G | T | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1186-2830C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196401501 | ||||||
| chr1:196401964
|
G | C | 1 | a0001c0001t0001g0092 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.1186-3293C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196401964 | ||||||
| chr1:196402055
|
C | A | 6 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(3): Show | 6 | HG02622.hp2 HG02723.hp1 HG02965.hp1 others(3): Show |
intron_variant | MODIFIER | c.1186-3384G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196402055 | ||||||
| chr1:196402302
|
T | C | 23 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0017others(20): Show | 23 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(20): Show |
intron_variant | MODIFIER | c.1186-3631A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196402302 | ||||||
| chr1:196402404
|
G | C | 1 | a0001c0001t0001g0072 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.1186-3733C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196402404 | ||||||
| chr1:196402463
|
G | A | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1186-3792C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196402463 | ||||||
| chr1:196402473
|
A | C | 3 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129 | 3 | HG02647.hp2 HG02809.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.1186-3802T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196402473 | ||||||
| chr1:196402498
|
C | G | 1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.1186-3827G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196402498 | ||||||
| chr1:196402512
|
C | CA | 7 | a0001c0001t0001g0056a0001c0001t0001g0077a0001c0001t0001g0093others(4): Show | 7 | HG01109.hp2 HG02630.hp2 HG02818.hp2 others(4): Show |
intron_variant | MODIFIER | c.1186-3842dupT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196402512 | ||||||
| chr1:196402904
|
G | A | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.1186-4233C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196402904 | ||||||
| chr1:196403304
|
G | C | 1 | a0001c0001t0001g0045 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.1186-4633C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196403304 | ||||||
| chr1:196403538
|
T | C | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1186-4867A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196403538 | ||||||
| chr1:196403663
|
G | T | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1186-4992C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196403663 | ||||||
| chr1:196404282
|
T | C | 1 | a0001c0001t0002g0115 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1186-5611A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196404282 | ||||||
| chr1:196404650
|
T | C | 7 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(4): Show | 7 | HG02647.hp2 HG02809.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.1186-5979A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196404650 | ||||||
| chr1:196405164
|
AT | A | 8 | a0001c0001t0001g0017a0001c0001t0001g0127a0001c0001t0001g0128others(5): Show | 8 | HG00639.hp2 HG02647.hp2 HG02809.hp1 others(5): Show |
intron_variant | MODIFIER | c.1186-6494delA | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196405164 | ||||||
| chr1:196405442
|
A | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1186-6771T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196405442 | ||||||
| chr1:196405650
|
C | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1186-6979G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196405650 | ||||||
| chr1:196405781
|
T | C | 1 | a0001c0001t0001g0039 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1186-7110A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196405781 | ||||||
| chr1:196405802
|
A | G | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1186-7131T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196405802 | ||||||
| chr1:196405930
|
G | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1186-7259C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196405930 | ||||||
| chr1:196406518
|
G | A | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.1186-7847C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196406518 | ||||||
| chr1:196406592
|
CA | C | 60 | a0001c0001t0001g0010a0001c0001t0001g0018a0001c0001t0001g0022others(57): Show | 60 | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(57): Show |
intron_variant | MODIFIER | c.1186-7922delT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196406592 | ||||||
| chr1:196406606
|
A | T | 1 | a0001c0002t0001g0125 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.1186-7935T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196406606 | ||||||
| chr1:196406609
|
T | A | 5 | a0001c0002t0001g0121a0001c0002t0001g0123a0001c0002t0001g0124others(2): Show | 5 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.1186-7938A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196406609 | ||||||
| chr1:196407010
|
C | G | 1 | a0001c0001t0001g0040 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.1186-8339G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196407010 | ||||||
| chr1:196407190
|
C | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1186-8519G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196407190 | ||||||
| chr1:196407344
|
T | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1186-8673A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196407344 | ||||||
| chr1:196407411
|
G | A | 3 | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0001t0003g0082 | 3 | HG03130.hp1 HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.1186-8740C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196407411 | ||||||
| chr1:196407536
|
T | C | 12 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(9): Show | 12 | HG01109.hp2 HG02572.hp1 HG02717.hp1 others(9): Show |
intron_variant | MODIFIER | c.1186-8865A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196407536 | ||||||
| chr1:196407848
|
A | AT | 28 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0017others(25): Show | 28 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(25): Show |
intron_variant | MODIFIER | c.1186-9178dupA | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196407848 | ||||||
| chr1:196408039
|
G | C | 1 | a0001c0001t0003g0082 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1186-9368C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196408039 | ||||||
| chr1:196408070
|
T | C | 1 | a0001c0002t0001g0122 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1186-9399A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196408070 | ||||||
| chr1:196408232
|
C | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1186-9561G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196408232 | ||||||
| chr1:196408533
|
T | C | 7 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(4): Show | 7 | HG02647.hp2 HG02809.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.1186-9862A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196408533 | ||||||
| chr1:196408585
|
A | G | 7 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(4): Show | 7 | HG02647.hp2 HG02809.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.1186-9914T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196408585 | ||||||
| chr1:196408766
|
C | T | 1 | a0001c0001t0001g0044 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1186-10095G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196408766 | ||||||
| chr1:196408938
|
C | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1186-10267G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196408938 | ||||||
| chr1:196408980
|
G | A | 16 | a0001c0001t0001g0027a0001c0001t0002g0007a0001c0001t0002g0028others(13): Show | 16 | HG00735.hp2 HG00741.hp1 HG01106.hp2 others(13): Show |
intron_variant | MODIFIER | c.1186-10309C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196408980 | ||||||
| chr1:196409073
|
G | GT | 7 | a0001c0001t0001g0040a0001c0001t0001g0042a0001c0001t0001g0046others(4): Show | 7 | HG01261.hp1 HG01346.hp2 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.1186-10403dupA | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196409073 | ||||||
| chr1:196409206
|
T | C | 3 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129 | 3 | HG02647.hp2 HG02809.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.1186-10535A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196409206 | ||||||
| chr1:196409410
|
G | A | 124 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(121): Show | 124 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(121): Show |
intron_variant | MODIFIER | c.1186-10739C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196409410 | ||||||
| chr1:196409518
|
T | A | 1 | a0001c0001t0003g0089 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.1186-10847A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196409518 | ||||||
| chr1:196409926
|
G | T | 21 | a0001c0001t0001g0027a0001c0001t0002g0007a0001c0001t0002g0028others(18): Show | 21 | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(18): Show |
intron_variant | MODIFIER | c.1186-11255C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196409926 | ||||||
| chr1:196410018
|
T | G | 1 | a0001c0001t0003g0089 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.1186-11347A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196410018 | ||||||
| chr1:196410067
|
G | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1186-11396C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196410067 | ||||||
| chr1:196410080
|
G | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1186-11409C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196410080 | ||||||
| chr1:196410153
|
TCG | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1186-11484_1186-11 others(8): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196410153 | ||||||
| chr1:196410154
|
C | T | 121 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(118): Show | 121 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(118): Show |
intron_variant | MODIFIER | c.1186-11483G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196410154 | ||||||
| chr1:196410185
|
C | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1186-11514G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196410185 | ||||||
| chr1:196410195
|
A | G | 6 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(3): Show | 6 | HG02622.hp2 HG02723.hp1 HG02965.hp1 others(3): Show |
intron_variant | MODIFIER | c.1186-11524T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196410195 | ||||||
| chr1:196410376
|
A | G | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1186-11705T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196410376 | ||||||
| chr1:196410391
|
G | A | 14 | a0001c0001t0001g0027a0001c0001t0002g0007a0001c0001t0002g0028others(11): Show | 14 | HG00735.hp2 HG00741.hp1 HG01106.hp2 others(11): Show |
intron_variant | MODIFIER | c.1186-11720C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196410391 | ||||||
| chr1:196410569
|
AAAAT | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1186-11902_1186-11 others(10): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196410569 | ||||||
| chr1:196410710
|
T | TA | 72 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(69): Show | 72 | HG00140.hp2 HG00639.hp1 HG00639.hp2 others(69): Show |
intron_variant | MODIFIER | c.1186-12040dupT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196410710 | ||||||
| chr1:196410710
|
TA | T | 40 | a0001c0001t0001g0018a0001c0001t0001g0041a0001c0001t0001g0044others(37): Show | 40 | HG00140.hp1 HG00323.hp2 HG00673.hp1 others(37): Show |
intron_variant | MODIFIER | c.1186-12040delT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196410710 | ||||||
| chr1:196410726
|
C | A | 1 | a0001c0001t0003g0082 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1186-12055G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196410726 | ||||||
| chr1:196411033
|
TCCTC | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1185+12013_1185+12 others(10): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196411033 | ||||||
| chr1:196411059
|
C | CTCCT | 2 | a0001c0001t0001g0011a0001c0003t0001g0112 | 2 | HG02886.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.1185+11987_1185+11 others(10): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196411059 | ||||||
| chr1:196411059
|
CTCCT | C | 15 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0085others(12): Show | 15 | HG01109.hp2 HG02451.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.1185+11987_1185+11 others(10): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196411059 | ||||||
| chr1:196411059
|
CTCCTTCC others(1): Show |
C | 6 | a0001c0001t0001g0039a0001c0001t0001g0099a0001c0001t0001g0107others(3): Show | 6 | HG02647.hp2 HG03486.hp1 HG03486.hp2 others(3): Show |
intron_variant | MODIFIER | c.1185+11983_1185+11 others(14): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196411059 | ||||||
| chr1:196411059
|
CTCCTTCC others(5): Show |
C | 6 | a0001c0001t0001g0074a0001c0001t0001g0090a0001c0001t0001g0092others(3): Show | 6 | HG02258.hp1 HG02630.hp1 HG02818.hp1 others(3): Show |
intron_variant | MODIFIER | c.1185+11979_1185+11 others(18): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196411059 | ||||||
| chr1:196411059
|
CTCCTTCC others(9): Show |
C | 16 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(13): Show | 16 | HG00673.hp1 HG01168.hp2 HG01346.hp2 others(13): Show |
intron_variant | MODIFIER | c.1185+11975_1185+11 others(22): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196411059 | ||||||
| chr1:196411059
|
CTCCTTCC others(13): Show |
C | 46 | a0001c0001t0001g0013a0001c0001t0001g0027a0001c0001t0001g0041others(43): Show | 46 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(43): Show |
intron_variant | MODIFIER | c.1185+11971_1185+11 others(26): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196411059 | ||||||
| chr1:196411059
|
CTCCTTCC others(17): Show |
C | 12 | a0001c0001t0001g0044a0001c0001t0001g0046a0001c0001t0001g0053others(9): Show | 12 | HG00140.hp1 HG00741.hp2 HG01109.hp1 others(9): Show |
intron_variant | MODIFIER | c.1185+11967_1185+11 others(30): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196411059 | ||||||
| chr1:196411059
|
CTCCTTCC others(21): Show |
C | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1185+11963_1185+11 others(34): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196411059 | ||||||
| chr1:196411059
|
CTCCTTCC others(25): Show |
C | 1 | a0001c0001t0001g0018 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.1185+11959_1185+11 others(38): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196411059 | ||||||
| chr1:196411059
|
CTCCTTCC others(29): Show |
C | 23 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0017others(20): Show | 23 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(20): Show |
intron_variant | MODIFIER | c.1185+11955_1185+11 others(42): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196411059 | ||||||
| chr1:196411446
|
T | TA | 28 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0013others(25): Show | 28 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(25): Show |
intron_variant | MODIFIER | c.1185+11603dupT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196411446 | ||||||
| chr1:196411446
|
T | TAA | 13 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(10): Show | 13 | HG01081.hp1 HG01981.hp1 HG02145.hp2 others(10): Show |
intron_variant | MODIFIER | c.1185+11602_1185+11 others(8): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196411446 | ||||||
| chr1:196411446
|
TA | T | 28 | a0001c0001t0001g0018a0001c0001t0001g0041a0001c0001t0001g0042others(25): Show | 28 | HG00323.hp2 HG00673.hp1 HG00735.hp1 others(25): Show |
intron_variant | MODIFIER | c.1185+11603delT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196411446 | ||||||
| chr1:196411446
|
TAA | T | 22 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(19): Show | 22 | HG00323.hp1 HG01081.hp2 HG01106.hp1 others(19): Show |
intron_variant | MODIFIER | c.1185+11602_1185+11 others(8): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196411446 | ||||||
| chr1:196411460
|
A | C | 6 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(3): Show | 6 | HG02622.hp2 HG02723.hp1 HG02965.hp1 others(3): Show |
intron_variant | MODIFIER | c.1185+11590T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196411460 | ||||||
| chr1:196411464
|
A | AAG | 6 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(3): Show | 6 | HG02647.hp2 HG02809.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.1185+11585_1185+11 others(8): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196411464 | ||||||
| chr1:196411464
|
A | G | 1 | a0001c0001t0001g0131 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1185+11586T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196411464 | ||||||
| chr1:196411523
|
C | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1185+11527G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196411523 | ||||||
| chr1:196411598
|
A | T | 1 | a0001c0001t0001g0045 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.1185+11452T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196411598 | ||||||
| chr1:196411633
|
G | A | 2 | a0001c0001t0001g0022a0001c0001t0001g0024 | 2 | NA18988.hp2 NA18990.hp1 |
intron_variant | MODIFIER | c.1185+11417C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196411633 | ||||||
| chr1:196411913
|
T | C | 1 | a0001c0001t0002g0118 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.1185+11137A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196411913 | ||||||
| chr1:196412047
|
C | T | 6 | a0001c0001t0001g0042a0001c0001t0001g0060a0001c0001t0001g0072others(3): Show | 6 | HG00673.hp1 HG02293.hp2 NA18984.hp2 others(3): Show |
intron_variant | MODIFIER | c.1185+11003G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196412047 | ||||||
| chr1:196412468
|
CCTTCCTT others(10): Show |
C | 2 | a0001c0001t0002g0049a0001c0001t0002g0051 | 2 | HG00639.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.1185+10565_1185+10 others(23): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196412468 | ||||||
| chr1:196412633
|
C | G | 1 | a0001c0001t0003g0082 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1185+10417G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196412633 | ||||||
| chr1:196412642
|
C | T | 7 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(4): Show | 7 | HG02647.hp2 HG02809.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.1185+10408G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196412642 | ||||||
| chr1:196412702
|
G | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1185+10348C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196412702 | ||||||
| chr1:196412752
|
T | G | 1 | a0001c0001t0001g0088 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1185+10298A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196412752 | ||||||
| chr1:196413096
|
G | A | 1 | a0001c0001t0002g0114 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.1185+9954C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196413096 | ||||||
| chr1:196413461
|
C | A | 21 | a0001c0001t0001g0027a0001c0001t0002g0007a0001c0001t0002g0028others(18): Show | 21 | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(18): Show |
intron_variant | MODIFIER | c.1185+9589G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196413461 | ||||||
| chr1:196413553
|
G | A | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.1185+9497C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196413553 | ||||||
| chr1:196413598
|
G | A | 2 | a0001c0001t0001g0046a0001c0001t0001g0056 | 2 | HG02630.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.1185+9452C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196413598 | ||||||
| chr1:196414199
|
T | C | 1 | a0001c0001t0002g0116 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1185+8851A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196414199 | ||||||
| chr1:196414471
|
T | C | 83 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(80): Show | 83 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(80): Show |
intron_variant | MODIFIER | c.1185+8579A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196414471 | ||||||
| chr1:196414549
|
G | A | 1 | a0001c0001t0002g0049 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.1185+8501C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196414549 | ||||||
| chr1:196414553
|
T | G | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1185+8497A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196414553 | ||||||
| chr1:196414605
|
A | G | 124 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(121): Show | 124 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(121): Show |
intron_variant | MODIFIER | c.1185+8445T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196414605 | ||||||
| chr1:196414655
|
ATACAATT others(25): Show |
A | 1 | a0001c0001t0003g0104 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.1185+8363_1185+839 others(36): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196414655 | ||||||
| chr1:196414688
|
C | G | 1 | a0001c0001t0003g0104 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.1185+8362G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196414688 | ||||||
| chr1:196414745
|
G | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1185+8305C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196414745 | ||||||
| chr1:196414780
|
T | C | 1 | a0001c0001t0001g0129 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1185+8270A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196414780 | ||||||
| chr1:196414864
|
T | C | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1185+8186A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196414864 | ||||||
| chr1:196414874
|
T | C | 131 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(128): Show | 131 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(128): Show |
intron_variant | MODIFIER | c.1185+8176A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196414874 | ||||||
| chr1:196414986
|
T | G | 101 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(98): Show | 101 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(98): Show |
intron_variant | MODIFIER | c.1185+8064A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196414986 | ||||||
| chr1:196415335
|
A | G | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1185+7715T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196415335 | ||||||
| chr1:196415513
|
A | AAT | 5 | a0001c0001t0001g0090a0001c0001t0001g0130a0001c0001t0001g0131others(2): Show | 5 | HG02258.hp1 HG02280.hp1 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.1185+7535_1185+753 others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196415513 | ||||||
| chr1:196415626
|
C | G | 1 | a0001c0001t0002g0026 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.1185+7424G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196415626 | ||||||
| chr1:196415695
|
C | G | 1 | a0001c0001t0009g0038 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1185+7355G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196415695 | ||||||
| chr1:196416000
|
A | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1185+7050T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196416000 | ||||||
| chr1:196416183
|
T | G | 10 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(7): Show | 10 | HG02257.hp1 HG02451.hp1 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.1185+6867A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196416183 | ||||||
| chr1:196416277
|
C | A | 23 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0017others(20): Show | 23 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(20): Show |
intron_variant | MODIFIER | c.1185+6773G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196416277 | ||||||
| chr1:196416519
|
T | C | 101 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(98): Show | 101 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(98): Show |
intron_variant | MODIFIER | c.1185+6531A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196416519 | ||||||
| chr1:196416783
|
T | C | 1 | a0001c0001t0001g0017 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.1185+6267A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196416783 | ||||||
| chr1:196417079
|
A | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1185+5971T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196417079 | ||||||
| chr1:196417246
|
C | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1185+5804G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196417246 | ||||||
| chr1:196417260
|
G | T | 1 | a0001c0004t0004g0132 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.1185+5790C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196417260 | ||||||
| chr1:196417700
|
G | A | 1 | a0001c0001t0001g0105 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1185+5350C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196417700 | ||||||
| chr1:196417713
|
G | A | 7 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(4): Show | 7 | HG02647.hp2 HG02809.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.1185+5337C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196417713 | ||||||
| chr1:196417789
|
T | C | 101 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(98): Show | 101 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(98): Show |
intron_variant | MODIFIER | c.1185+5261A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196417789 | ||||||
| chr1:196417879
|
T | C | 1 | a0001c0001t0009g0038 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1185+5171A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196417879 | ||||||
| chr1:196418204
|
G | A | 40 | a0001c0001t0001g0018a0001c0001t0001g0041a0001c0001t0001g0042others(37): Show | 40 | HG00140.hp1 HG00323.hp2 HG00673.hp1 others(37): Show |
intron_variant | MODIFIER | c.1185+4846C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196418204 | ||||||
| chr1:196418224
|
C | A | 6 | a0001c0001t0001g0036a0001c0001t0001g0086a0001c0001t0001g0087others(3): Show | 6 | HG02723.hp2 HG03209.hp2 HG03579.hp1 others(3): Show |
intron_variant | MODIFIER | c.1185+4826G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196418224 | ||||||
| chr1:196418228
|
C | T | 23 | a0001c0001t0001g0027a0001c0001t0002g0007a0001c0001t0002g0028others(20): Show | 23 | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(20): Show |
intron_variant | MODIFIER | c.1185+4822G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196418228 | ||||||
| chr1:196418229
|
G | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1185+4821C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196418229 | ||||||
| chr1:196418470
|
G | GAACAAC | 2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.1185+4574_1185+457 others(10): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196418470 | ||||||
| chr1:196418502
|
G | A | 73 | a0001c0001t0001g0018a0001c0001t0001g0027a0001c0001t0001g0041others(70): Show | 73 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(70): Show |
intron_variant | MODIFIER | c.1185+4548C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196418502 | ||||||
| chr1:196418611
|
C | A | 23 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0017others(20): Show | 23 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(20): Show |
intron_variant | MODIFIER | c.1185+4439G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196418611 | ||||||
| chr1:196418671
|
C | G | 1 | a0001c0001t0001g0101 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1185+4379G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196418671 | ||||||
| chr1:196418679
|
C | T | 23 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0017others(20): Show | 23 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(20): Show |
intron_variant | MODIFIER | c.1185+4371G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196418679 | ||||||
| chr1:196418891
|
A | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1185+4159T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196418891 | ||||||
| chr1:196419254
|
C | T | 1 | a0001c0001t0009g0038 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1185+3796G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196419254 | ||||||
| chr1:196419326
|
CT | C | 6 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013others(3): Show | 6 | HG02257.hp1 HG02630.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.1185+3723delA | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196419326 | ||||||
| chr1:196419327
|
T | C | 3 | a0001c0001t0001g0003a0001c0001t0002g0026a0002c0008t0001g0020 | 3 | HG01175.hp1 HG02717.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.1185+3723A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196419327 | ||||||
| chr1:196419327
|
T | TC | 11 | a0001c0001t0001g0017a0001c0001t0001g0021a0001c0001t0001g0025others(8): Show | 11 | HG00140.hp2 HG00639.hp2 HG00735.hp1 others(8): Show |
intron_variant | MODIFIER | c.1185+3722dupG | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196419327 | ||||||
| chr1:196419331
|
C | A | 2 | a0001c0001t0001g0008a0001c0001t0001g0009 | 2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.1185+3719G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196419331 | ||||||
| chr1:196419333
|
C | G | 1 | a0001c0001t0001g0046 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1185+3717G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196419333 | ||||||
| chr1:196419521
|
C | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1185+3529G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196419521 | ||||||
| chr1:196419543
|
A | G | 40 | a0001c0001t0001g0018a0001c0001t0001g0041a0001c0001t0001g0042others(37): Show | 40 | HG00140.hp1 HG00323.hp2 HG00673.hp1 others(37): Show |
intron_variant | MODIFIER | c.1185+3507T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196419543 | ||||||
| chr1:196419586
|
T | C | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1185+3464A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196419586 | ||||||
| chr1:196419595
|
T | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1185+3455A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196419595 | ||||||
| chr1:196419688
|
C | G | 6 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(3): Show | 6 | HG02622.hp2 HG02723.hp1 HG02965.hp1 others(3): Show |
intron_variant | MODIFIER | c.1185+3362G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196419688 | ||||||
| chr1:196419837
|
T | C | 36 | a0001c0001t0001g0018a0001c0001t0001g0041a0001c0001t0001g0042others(33): Show | 36 | HG00140.hp1 HG00323.hp2 HG00673.hp1 others(33): Show |
intron_variant | MODIFIER | c.1185+3213A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196419837 | ||||||
| chr1:196419947
|
C | T | 4 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(1): Show | 4 | HG02717.hp2 HG02895.hp2 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.1185+3103G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196419947 | ||||||
| chr1:196420142
|
T | C | 1 | a0001c0001t0001g0090 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1185+2908A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196420142 | ||||||
| chr1:196421179
|
C | T | 1 | a0001c0001t0001g0018 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.1185+1871G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196421179 | ||||||
| chr1:196421243
|
C | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1185+1807G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196421243 | ||||||
| chr1:196421553
|
T | G | 2 | a0001c0005t0001g0014a0001c0005t0001g0016 | 2 | HG02257.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.1185+1497A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196421553 | ||||||
| chr1:196421729
|
CA | C | 3 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129 | 3 | HG02647.hp2 HG02809.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.1185+1320delT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196421729 | ||||||
| chr1:196421750
|
C | G | 1 | a0001c0001t0001g0078 | 1 | NA18984.hp2 | intron_variant | MODIFIER | c.1185+1300G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196421750 | ||||||
| chr1:196421913
|
G | A | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.1185+1137C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196421913 | ||||||
| chr1:196421983
|
C | G | 39 | a0001c0001t0001g0018a0001c0001t0001g0041a0001c0001t0001g0042others(36): Show | 39 | HG00140.hp1 HG00323.hp2 HG00673.hp1 others(36): Show |
intron_variant | MODIFIER | c.1185+1067G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196421983 | ||||||
| chr1:196422065
|
C | T | 70 | a0001c0001t0001g0018a0001c0001t0001g0027a0001c0001t0001g0041others(67): Show | 70 | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(67): Show |
intron_variant | MODIFIER | c.1185+985G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196422065 | ||||||
| chr1:196422177
|
G | A | 5 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(2): Show | 5 | HG02622.hp2 HG02723.hp1 HG02965.hp1 others(2): Show |
intron_variant | MODIFIER | c.1185+873C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196422177 | ||||||
| chr1:196422231
|
A | G | 2 | a0001c0001t0001g0090a0001c0007t0001g0091 | 2 | HG02258.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.1185+819T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196422231 | ||||||
| chr1:196422241
|
C | A | 1 | a0001c0001t0003g0082 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1185+809G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196422241 | ||||||
| chr1:196422301
|
C | A | 1 | a0001c0001t0001g0084 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1185+749G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196422301 | ||||||
| chr1:196422586
|
A | G | 1 | a0001c0001t0001g0101 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1185+464T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196422586 | ||||||
| chr1:196422666
|
C | T | 1 | a0001c0001t0010g0097 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.1185+384G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196422666 | ||||||
| chr1:196422736
|
T | C | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1185+314A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196422736 | ||||||
| chr1:196423042
|
A | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
splice_region_variant&intron_variant | LOW | c.1185+8T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 12/27 | chr1 | 196423042 | ||||||
| chr1:196423197
|
A | C | 1 | a0001c0001t0001g0018 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.1122-84T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 11/27 | chr1 | 196423197 | ||||||
| chr1:196423557
|
A | G | 1 | a0001c0003t0001g0112 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.1122-444T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 11/27 | chr1 | 196423557 | ||||||
| chr1:196423632
|
A | T | 12 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(9): Show | 12 | HG01109.hp2 HG02572.hp1 HG02717.hp1 others(9): Show |
intron_variant | MODIFIER | c.1122-519T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 11/27 | chr1 | 196423632 | ||||||
| chr1:196423736
|
C | CA | 46 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(43): Show | 46 | HG00323.hp1 HG00639.hp1 HG00735.hp2 others(43): Show |
intron_variant | MODIFIER | c.1122-624dupT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 11/27 | chr1 | 196423736 | ||||||
| chr1:196423736
|
C | CAA | 37 | a0001c0001t0001g0018a0001c0001t0001g0041a0001c0001t0001g0042others(34): Show | 37 | HG00140.hp1 HG00323.hp2 HG00673.hp1 others(34): Show |
intron_variant | MODIFIER | c.1122-625_1122-624d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 11/27 | chr1 | 196423736 | ||||||
| chr1:196423736
|
CA | C | 23 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0017others(20): Show | 23 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(20): Show |
intron_variant | MODIFIER | c.1122-624delT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 11/27 | chr1 | 196423736 | ||||||
| chr1:196423769
|
A | G | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.1122-656T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 11/27 | chr1 | 196423769 | ||||||
| chr1:196424009
|
C | T | 8 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(5): Show | 8 | HG01496.hp1 HG01981.hp1 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.1122-896G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 11/27 | chr1 | 196424009 | ||||||
| chr1:196424066
|
A | T | 1 | a0001c0001t0001g0017 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.1122-953T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 11/27 | chr1 | 196424066 | ||||||
| chr1:196424139
|
G | A | 1 | a0001c0001t0003g0082 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1122-1026C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 11/27 | chr1 | 196424139 | ||||||
| chr1:196424489
|
G | T | 12 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(9): Show | 12 | HG01109.hp2 HG02572.hp1 HG02717.hp1 others(9): Show |
intron_variant | MODIFIER | c.1121+1363C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 11/27 | chr1 | 196424489 | ||||||
| chr1:196424660
|
G | A | 1 | a0001c0001t0001g0064 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.1121+1192C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 11/27 | chr1 | 196424660 | ||||||
| chr1:196424871
|
G | GAC | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.1121+979_1121+980d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 11/27 | chr1 | 196424871 | ||||||
| chr1:196424919
|
G | A | 1 | a0001c0001t0011g0066 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.1121+933C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 11/27 | chr1 | 196424919 | ||||||
| chr1:196425048
|
G | A | 21 | a0001c0001t0001g0027a0001c0001t0002g0007a0001c0001t0002g0028others(18): Show | 21 | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(18): Show |
intron_variant | MODIFIER | c.1121+804C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 11/27 | chr1 | 196425048 | ||||||
| chr1:196425393
|
CTA | C | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1121+457_1121+458d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 11/27 | chr1 | 196425393 | ||||||
| chr1:196425433
|
A | G | 1 | a0001c0001t0001g0059 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.1121+419T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 11/27 | chr1 | 196425433 | ||||||
| chr1:196425659
|
G | A | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1121+193C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 11/27 | chr1 | 196425659 | ||||||
| chr1:196425818
|
T | C | 1 | a0001c0001t0001g0060 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.1121+34A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 11/27 | chr1 | 196425818 | ||||||
| chr1:196426180
|
T | C | 1 | a0001c0001t0001g0054 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.985-192A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 10/27 | chr1 | 196426180 | ||||||
| chr1:196426281
|
G | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.985-293C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 10/27 | chr1 | 196426281 | ||||||
| chr1:196426538
|
C | T | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.985-550G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 10/27 | chr1 | 196426538 | ||||||
| chr1:196426687
|
C | A | 12 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(9): Show | 12 | HG01109.hp2 HG02572.hp1 HG02717.hp1 others(9): Show |
intron_variant | MODIFIER | c.985-699G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 10/27 | chr1 | 196426687 | ||||||
| chr1:196426709
|
G | A | 1 | a0001c0001t0001g0092 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.985-721C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 10/27 | chr1 | 196426709 | ||||||
| chr1:196426741
|
G | A | 69 | a0001c0001t0001g0018a0001c0001t0001g0027a0001c0001t0001g0041others(66): Show | 69 | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(66): Show |
intron_variant | MODIFIER | c.985-753C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 10/27 | chr1 | 196426741 | ||||||
| chr1:196426754
|
C | T | 1 | a0001c0001t0001g0107 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.985-766G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 10/27 | chr1 | 196426754 | ||||||
| chr1:196426781
|
T | C | 1 | a0001c0001t0001g0045 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.985-793A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 10/27 | chr1 | 196426781 | ||||||
| chr1:196426800
|
G | A | 4 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0095others(1): Show | 4 | HG01109.hp2 HG02818.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.985-812C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 10/27 | chr1 | 196426800 | ||||||
| chr1:196426956
|
A | C | 79 | a0001c0001t0001g0018a0001c0001t0001g0027a0001c0001t0001g0041others(76): Show | 79 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(76): Show |
intron_variant | MODIFIER | c.985-968T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 10/27 | chr1 | 196426956 | ||||||
| chr1:196427108
|
G | A | 1 | a0001c0001t0001g0101 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.984+997C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 10/27 | chr1 | 196427108 | ||||||
| chr1:196427122
|
G | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.984+983C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 10/27 | chr1 | 196427122 | ||||||
| chr1:196427156
|
A | G | 6 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(3): Show | 6 | HG02622.hp2 HG02723.hp1 HG02965.hp1 others(3): Show |
intron_variant | MODIFIER | c.984+949T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 10/27 | chr1 | 196427156 | ||||||
| chr1:196427606
|
T | G | 1 | a0001c0001t0001g0084 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.984+499A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 10/27 | chr1 | 196427606 | ||||||
| chr1:196427618
|
C | T | 7 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(4): Show | 7 | HG02647.hp2 HG02809.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.984+487G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 10/27 | chr1 | 196427618 | ||||||
| chr1:196428638
|
C | T | 1 | a0001c0001t0001g0052 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.820-369G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 9/27 | chr1 | 196428638 | ||||||
| chr1:196428645
|
C | T | 79 | a0001c0001t0001g0018a0001c0001t0001g0027a0001c0001t0001g0041others(76): Show | 79 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(76): Show |
intron_variant | MODIFIER | c.820-376G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 9/27 | chr1 | 196428645 | ||||||
| chr1:196428689
|
G | A | 46 | a0001c0001t0001g0018a0001c0001t0001g0041a0001c0001t0001g0042others(43): Show | 46 | HG00140.hp1 HG00323.hp2 HG00673.hp1 others(43): Show |
intron_variant | MODIFIER | c.820-420C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 9/27 | chr1 | 196428689 | ||||||
| chr1:196428734
|
C | T | 1 | a0001c0001t0001g0023 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.820-465G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 9/27 | chr1 | 196428734 | ||||||
| chr1:196428756
|
G | A | 79 | a0001c0001t0001g0018a0001c0001t0001g0027a0001c0001t0001g0041others(76): Show | 79 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(76): Show |
intron_variant | MODIFIER | c.820-487C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 9/27 | chr1 | 196428756 | ||||||
| chr1:196429008
|
CT | C | 35 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(32): Show | 35 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(32): Show |
intron_variant | MODIFIER | c.819+568delA | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 9/27 | chr1 | 196429008 | ||||||
| chr1:196429156
|
A | G | 7 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(4): Show | 7 | HG02647.hp2 HG02809.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.819+421T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 9/27 | chr1 | 196429156 | ||||||
| chr1:196429236
|
T | C | 2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.819+341A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 9/27 | chr1 | 196429236 | ||||||
| chr1:196429299
|
T | C | 8 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(5): Show | 8 | HG02257.hp1 HG02630.hp1 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.819+278A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 9/27 | chr1 | 196429299 | ||||||
| chr1:196429347
|
G | C | 1 | a0001c0001t0001g0036 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.819+230C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 9/27 | chr1 | 196429347 | ||||||
| chr1:196429489
|
T | C | 43 | a0001c0001t0001g0018a0001c0001t0001g0041a0001c0001t0001g0042others(40): Show | 43 | HG00140.hp1 HG00323.hp2 HG00673.hp1 others(40): Show |
intron_variant | MODIFIER | c.819+88A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 9/27 | chr1 | 196429489 | ||||||
| chr1:196429545
|
A | G | 1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.819+32T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 9/27 | chr1 | 196429545 | ||||||
| chr1:196429558
|
A | G | 8 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(5): Show | 8 | HG02257.hp1 HG02630.hp1 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.819+19T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 9/27 | chr1 | 196429558 | ||||||
| chr1:196429764
|
A | G | 1 | a0001c0001t0001g0025 | 1 | HG01358.hp2 | splice_region_variant&intron_variant | LOW | c.639-7T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196429764 | ||||||
| chr1:196429844
|
T | A | 45 | a0001c0001t0001g0018a0001c0001t0001g0041a0001c0001t0001g0042others(42): Show | 45 | HG00140.hp1 HG00323.hp2 HG00673.hp1 others(42): Show |
intron_variant | MODIFIER | c.639-87A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196429844 | ||||||
| chr1:196430079
|
T | G | 1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.639-322A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196430079 | ||||||
| chr1:196430102
|
G | A | 42 | a0001c0001t0001g0018a0001c0001t0001g0041a0001c0001t0001g0042others(39): Show | 42 | HG00140.hp1 HG00323.hp2 HG00673.hp1 others(39): Show |
intron_variant | MODIFIER | c.639-345C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196430102 | ||||||
| chr1:196430192
|
G | A | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.639-435C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196430192 | ||||||
| chr1:196430292
|
A | G | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.639-535T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196430292 | ||||||
| chr1:196430316
|
G | T | 1 | a0001c0001t0011g0066 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.639-559C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196430316 | ||||||
| chr1:196430378
|
ATC | A | 4 | a0001c0001t0003g0082a0001c0001t0009g0038a0001c0004t0004g0132others(1): Show | 4 | HG00323.hp1 HG01081.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.639-623_639-622del others(2): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196430378 | ||||||
| chr1:196430378
|
ATCTC | A | 3 | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0001t0003g0035 | 3 | HG02451.hp1 HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.639-625_639-622del others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196430378 | ||||||
| chr1:196430378
|
ATCTCTC | A | 70 | a0001c0001t0001g0018a0001c0001t0001g0027a0001c0001t0001g0041others(67): Show | 70 | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(67): Show |
intron_variant | MODIFIER | c.639-627_639-622del others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196430378 | ||||||
| chr1:196430392
|
CTCTCTCT others(9): Show |
C | 3 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129 | 3 | HG02647.hp2 HG02809.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.639-651_639-636del others(16): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196430392 | ||||||
| chr1:196430425
|
T | C | 1 | a0001c0001t0001g0017 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.639-668A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196430425 | ||||||
| chr1:196430704
|
G | A | 2 | a0001c0001t0001g0090a0001c0007t0001g0091 | 2 | HG02258.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.639-947C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196430704 | ||||||
| chr1:196430906
|
T | G | 1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.639-1149A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196430906 | ||||||
| chr1:196431002
|
T | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.639-1245A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196431002 | ||||||
| chr1:196431057
|
T | C | 1 | a0001c0001t0002g0116 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.639-1300A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196431057 | ||||||
| chr1:196431123
|
C | T | 23 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0017others(20): Show | 23 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(20): Show |
intron_variant | MODIFIER | c.639-1366G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196431123 | ||||||
| chr1:196431493
|
G | A | 1 | a0001c0001t0003g0082 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.639-1736C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196431493 | ||||||
| chr1:196431496
|
G | C | 131 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(128): Show | 131 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(128): Show |
intron_variant | MODIFIER | c.639-1739C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196431496 | ||||||
| chr1:196431741
|
A | T | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.639-1984T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196431741 | ||||||
| chr1:196431808
|
C | T | 2 | a0001c0001t0001g0008a0001c0001t0001g0009 | 2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.639-2051G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196431808 | ||||||
| chr1:196431831
|
T | C | 1 | a0001c0007t0001g0091 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.639-2074A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196431831 | ||||||
| chr1:196431864
|
A | G | 43 | a0001c0001t0001g0018a0001c0001t0001g0041a0001c0001t0001g0042others(40): Show | 43 | HG00140.hp1 HG00323.hp2 HG00673.hp1 others(40): Show |
intron_variant | MODIFIER | c.639-2107T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196431864 | ||||||
| chr1:196432052
|
G | C | 23 | a0001c0001t0001g0027a0001c0001t0002g0007a0001c0001t0002g0028others(20): Show | 23 | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(20): Show |
intron_variant | MODIFIER | c.639-2295C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196432052 | ||||||
| chr1:196432260
|
T | G | 79 | a0001c0001t0001g0018a0001c0001t0001g0027a0001c0001t0001g0041others(76): Show | 79 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(76): Show |
intron_variant | MODIFIER | c.639-2503A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196432260 | ||||||
| chr1:196432300
|
G | C | 1 | a0001c0003t0008g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.639-2543C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196432300 | ||||||
| chr1:196433375
|
T | C | 1 | a0001c0004t0004g0133 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.639-3618A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196433375 | ||||||
| chr1:196433452
|
G | A | 2 | a0001c0001t0001g0056a0001c0001t0001g0077 | 2 | HG02630.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.639-3695C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196433452 | ||||||
| chr1:196433643
|
T | C | 79 | a0001c0001t0001g0018a0001c0001t0001g0027a0001c0001t0001g0041others(76): Show | 79 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(76): Show |
intron_variant | MODIFIER | c.639-3886A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196433643 | ||||||
| chr1:196433805
|
T | C | 5 | a0001c0002t0001g0121a0001c0002t0001g0123a0001c0002t0001g0124others(2): Show | 5 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.639-4048A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196433805 | ||||||
| chr1:196433820
|
A | T | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.639-4063T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196433820 | ||||||
| chr1:196433827
|
C | G | 2 | a0001c0001t0001g0056a0001c0001t0001g0077 | 2 | HG02630.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.639-4070G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196433827 | ||||||
| chr1:196434193
|
T | A | 3 | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0001t0003g0082 | 3 | HG03130.hp1 HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.639-4436A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196434193 | ||||||
| chr1:196434457
|
T | G | 1 | a0001c0001t0003g0103 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.639-4700A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196434457 | ||||||
| chr1:196434462
|
T | G | 3 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129 | 3 | HG02647.hp2 HG02809.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.639-4705A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196434462 | ||||||
| chr1:196434482
|
T | A | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.639-4725A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196434482 | ||||||
| chr1:196434536
|
G | T | 1 | a0001c0003t0001g0109 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.639-4779C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196434536 | ||||||
| chr1:196434831
|
T | C | 1 | a0001c0002t0001g0122 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.639-5074A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196434831 | ||||||
| chr1:196434984
|
T | C | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.639-5227A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196434984 | ||||||
| chr1:196435072
|
A | C | 1 | a0001c0006t0001g0067 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.639-5315T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196435072 | ||||||
| chr1:196435123
|
A | ATG | 6 | a0001c0001t0001g0044a0001c0001t0001g0058a0001c0001t0001g0068others(3): Show | 6 | HG00140.hp1 HG01109.hp1 HG01358.hp1 others(3): Show |
intron_variant | MODIFIER | c.639-5368_639-5367d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196435123 | ||||||
| chr1:196435128
|
T | C | 1 | a0001c0002t0001g0123 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.639-5371A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196435128 | ||||||
| chr1:196435133
|
G | GTA | 2 | a0001c0001t0001g0131a0001c0001t0003g0082 | 2 | HG03130.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.639-5377_639-5376i others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196435133 | ||||||
| chr1:196435133
|
GTGTA | G | 11 | a0001c0001t0001g0043a0001c0001t0001g0052a0001c0001t0001g0054others(8): Show | 11 | HG01106.hp1 HG01496.hp2 HG01981.hp2 others(8): Show |
intron_variant | MODIFIER | c.639-5380_639-5377d others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196435133 | ||||||
| chr1:196435133
|
GTGTATGT others(21): Show |
G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.639-5404_639-5377d others(30): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196435133 | ||||||
| chr1:196435135
|
G | A | 3 | a0001c0001t0001g0129a0001c0001t0001g0131a0001c0001t0003g0082 | 3 | HG02647.hp2 HG03130.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.639-5378C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196435135 | ||||||
| chr1:196435135
|
G | GTGTA | 3 | a0001c0001t0001g0045a0001c0001t0001g0074a0001c0002t0001g0124 | 3 | HG02109.hp1 HG03492.hp2 NA18990.hp2 |
intron_variant | MODIFIER | c.639-5379_639-5378i others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196435135 | ||||||
| chr1:196435135
|
GTA | G | 8 | a0001c0001t0001g0059a0001c0001t0001g0062a0001c0001t0001g0064others(5): Show | 8 | HG00323.hp2 HG01168.hp2 HG01261.hp1 others(5): Show |
intron_variant | MODIFIER | c.639-5380_639-5379d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196435135 | ||||||
| chr1:196435135
|
GTATGTA | G | 2 | a0001c0001t0001g0046a0001c0001t0001g0055 | 2 | HG00735.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.639-5384_639-5379d others(8): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196435135 | ||||||
| chr1:196435135
|
GTATGTAT others(7): Show |
G | 1 | a0001c0001t0001g0042 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.639-5392_639-5379d others(16): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196435135 | ||||||
| chr1:196435135
|
GTATGTAT others(19): Show |
G | 1 | a0001c0001t0001g0047 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.639-5404_639-5379d others(28): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196435135 | ||||||
| chr1:196435137
|
A | G | 16 | a0001c0001t0001g0018a0001c0001t0001g0041a0001c0001t0001g0053others(13): Show | 16 | HG00673.hp1 HG00741.hp2 HG01175.hp2 others(13): Show |
intron_variant | MODIFIER | c.639-5380T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196435137 | ||||||
| chr1:196435139
|
G | A | 33 | a0001c0001t0001g0018a0001c0001t0001g0041a0001c0001t0001g0044others(30): Show | 33 | HG00140.hp1 HG00673.hp1 HG00741.hp2 others(30): Show |
intron_variant | MODIFIER | c.639-5382C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196435139 | ||||||
| chr1:196435139
|
G | GTA | 28 | a0001c0001t0001g0013a0001c0001t0001g0019a0001c0001t0001g0023others(25): Show | 28 | HG00639.hp1 HG00735.hp2 HG01074.hp2 others(25): Show |
intron_variant | MODIFIER | c.639-5384_639-5383d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196435139 | ||||||
| chr1:196435139
|
G | GTATA | 4 | a0001c0001t0001g0021a0001c0001t0001g0024a0001c0001t0002g0032others(1): Show | 4 | HG00140.hp2 HG02257.hp1 HG02293.hp1 others(1): Show |
intron_variant | MODIFIER | c.639-5386_639-5383d others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196435139 | ||||||
| chr1:196435139
|
G | GTATATA | 2 | a0001c0001t0001g0010a0001c0001t0002g0114 | 2 | HG03540.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.639-5388_639-5383d others(8): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196435139 | ||||||
| chr1:196435139
|
G | GTATATAT others(5): Show |
1 | a0001c0001t0001g0136 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.639-5394_639-5383d others(14): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196435139 | ||||||
| chr1:196435139
|
GTA | G | 6 | a0001c0001t0001g0003a0001c0001t0001g0086a0001c0001t0001g0105others(3): Show | 6 | HG02717.hp2 HG03209.hp2 NA19030.hp1 others(3): Show |
intron_variant | MODIFIER | c.639-5384_639-5383d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196435139 | ||||||
| chr1:196435139
|
GTATA | G | 9 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0017others(6): Show | 9 | HG00639.hp2 HG02451.hp1 HG02622.hp2 others(6): Show |
intron_variant | MODIFIER | c.639-5386_639-5383d others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196435139 | ||||||
| chr1:196435139
|
GTATATAT others(15): Show |
G | 1 | a0001c0001t0001g0004 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.639-5404_639-5383d others(24): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196435139 | ||||||
| chr1:196435141
|
A | G | 7 | a0001c0001t0001g0043a0001c0001t0001g0052a0001c0001t0001g0054others(4): Show | 7 | HG01106.hp1 HG01496.hp2 HG01981.hp2 others(4): Show |
intron_variant | MODIFIER | c.639-5384T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196435141 | ||||||
| chr1:196435143
|
A | G | 2 | a0001c0001t0001g0046a0001c0001t0001g0055 | 2 | HG00735.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.639-5386T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196435143 | ||||||
| chr1:196435151
|
A | G | 1 | a0001c0001t0001g0042 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.639-5394T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196435151 | ||||||
| chr1:196435163
|
A | G | 1 | a0001c0001t0001g0047 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.639-5406T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196435163 | ||||||
| chr1:196435292
|
T | C | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.639-5535A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196435292 | ||||||
| chr1:196435518
|
A | G | 1 | a0001c0001t0001g0131 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.639-5761T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196435518 | ||||||
| chr1:196435721
|
C | G | 1 | a0001c0001t0001g0045 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.639-5964G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196435721 | ||||||
| chr1:196436040
|
C | T | 1 | a0001c0001t0001g0107 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.639-6283G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196436040 | ||||||
| chr1:196436422
|
T | C | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.639-6665A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196436422 | ||||||
| chr1:196436510
|
T | C | 1 | a0001c0001t0002g0114 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.639-6753A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196436510 | ||||||
| chr1:196436522
|
T | C | 79 | a0001c0001t0001g0018a0001c0001t0001g0027a0001c0001t0001g0041others(76): Show | 79 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(76): Show |
intron_variant | MODIFIER | c.639-6765A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196436522 | ||||||
| chr1:196436564
|
G | A | 21 | a0001c0001t0001g0027a0001c0001t0002g0007a0001c0001t0002g0028others(18): Show | 21 | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(18): Show |
intron_variant | MODIFIER | c.639-6807C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196436564 | ||||||
| chr1:196436573
|
T | C | 1 | a0001c0001t0003g0104 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.639-6816A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196436573 | ||||||
| chr1:196436613
|
A | G | 3 | a0001c0001t0001g0060a0001c0001t0001g0078a0001c0001t0001g0080 | 3 | HG02293.hp2 NA18984.hp2 NA18988.hp1 |
intron_variant | MODIFIER | c.639-6856T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196436613 | ||||||
| chr1:196436640
|
T | C | 7 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(4): Show | 7 | HG02647.hp2 HG02809.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.639-6883A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196436640 | ||||||
| chr1:196436734
|
G | A | 2 | a0001c0001t0001g0090a0001c0007t0001g0091 | 2 | HG02258.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.639-6977C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196436734 | ||||||
| chr1:196436858
|
T | A | 2 | a0001c0001t0002g0048a0001c0001t0002g0076 | 2 | HG02809.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.639-7101A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196436858 | ||||||
| chr1:196437011
|
C | CATAAATA others(16): Show |
3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.639-7255_639-7254i others(25): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437011 | ||||||
| chr1:196437075
|
C | CATATATA others(428): Show |
1 | a0001c0001t0005g0106 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.639-7319_639-7318i others(437): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437075 | ||||||
| chr1:196437075
|
C | CATATATA others(428): Show |
1 | a0001c0001t0005g0100 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.639-7319_639-7318i others(437): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437075 | ||||||
| chr1:196437080
|
T | C | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.639-7323A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437080 | ||||||
| chr1:196437080
|
T | TATAAATA others(363): Show |
1 | a0001c0001t0001g0088 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.639-7324_639-7323i others(372): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437080 | ||||||
| chr1:196437080
|
T | TATAAATA others(403): Show |
1 | a0001c0001t0001g0102 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.639-7324_639-7323i others(412): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437080 | ||||||
| chr1:196437080
|
T | TATAAATA others(383): Show |
1 | a0001c0001t0001g0037 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.639-7324_639-7323i others(392): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437080 | ||||||
| chr1:196437080
|
T | TATAAATA others(363): Show |
1 | a0001c0001t0001g0025 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.639-7324_639-7323i others(372): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437080 | ||||||
| chr1:196437080
|
T | TATAAATA others(333): Show |
18 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0017others(15): Show | 18 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(15): Show |
intron_variant | MODIFIER | c.639-7324_639-7323i others(342): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437080 | ||||||
| chr1:196437080
|
T | TATAAATA others(363): Show |
1 | a0001c0001t0001g0019 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.639-7324_639-7323i others(372): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437080 | ||||||
| chr1:196437080
|
T | TATAAATA others(303): Show |
6 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(3): Show | 6 | HG02622.hp2 HG02723.hp1 HG02965.hp1 others(3): Show |
intron_variant | MODIFIER | c.639-7324_639-7323i others(312): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437080 | ||||||
| chr1:196437080
|
T | TATAAATA others(445): Show |
1 | a0001c0003t0001g0109 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.639-7324_639-7323i others(454): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437080 | ||||||
| chr1:196437080
|
T | TATAAATA others(479): Show |
3 | a0001c0003t0001g0108a0001c0003t0001g0111a0001c0003t0001g0112 | 3 | NA18522.hp2 NA19030.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.639-7324_639-7323i others(488): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437080 | ||||||
| chr1:196437080
|
T | TATAAATA others(449): Show |
1 | a0001c0003t0008g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.639-7324_639-7323i others(458): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437080 | ||||||
| chr1:196437080
|
T | TATAAATA others(333): Show |
1 | a0001c0001t0001g0131 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.639-7324_639-7323i others(342): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437080 | ||||||
| chr1:196437080
|
T | TATAAATA others(363): Show |
1 | a0001c0001t0001g0130 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.639-7324_639-7323i others(372): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437080 | ||||||
| chr1:196437080
|
T | TATAAATA others(385): Show |
2 | a0001c0001t0001g0008a0001c0001t0001g0009 | 2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.639-7324_639-7323i others(394): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437080 | ||||||
| chr1:196437080
|
T | TATAAATA others(353): Show |
3 | a0001c0005t0001g0014a0001c0005t0001g0015a0001c0005t0001g0016 | 3 | HG02257.hp1 HG02630.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.639-7324_639-7323i others(362): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437080 | ||||||
| chr1:196437080
|
T | TATAAATA others(333): Show |
3 | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0013 | 3 | HG02717.hp2 HG03540.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.639-7324_639-7323i others(342): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437080 | ||||||
| chr1:196437080
|
T | TATAAATA others(343): Show |
3 | a0001c0001t0002g0030a0001c0001t0002g0031a0001c0001t0002g0076 | 3 | HG00741.hp1 HG01168.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.639-7324_639-7323i others(352): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437080 | ||||||
| chr1:196437080
|
T | TATAAATA others(345): Show |
12 | a0001c0001t0002g0007a0001c0001t0002g0029a0001c0001t0002g0032others(9): Show | 12 | HG00639.hp1 HG00735.hp2 HG01074.hp1 others(9): Show |
intron_variant | MODIFIER | c.639-7324_639-7323i others(354): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437080 | ||||||
| chr1:196437080
|
T | TATAAATA others(375): Show |
3 | a0001c0001t0001g0027a0001c0001t0002g0028a0001c0001t0002g0117 | 3 | HG03834.hp2 NA18984.hp1 NA19009.hp2 |
intron_variant | MODIFIER | c.639-7324_639-7323i others(384): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437080 | ||||||
| chr1:196437080
|
T | TATAAATA others(405): Show |
2 | a0001c0001t0002g0113a0001c0001t0002g0115 | 2 | HG02258.hp2 HG04115.hp1 |
intron_variant | MODIFIER | c.639-7324_639-7323i others(414): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437080 | ||||||
| chr1:196437080
|
T | TATAAATA others(495): Show |
1 | a0001c0001t0002g0116 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.639-7324_639-7323i others(504): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437080 | ||||||
| chr1:196437080
|
T | TATAAATA others(393): Show |
1 | a0001c0001t0001g0128 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.639-7324_639-7323i others(402): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437080 | ||||||
| chr1:196437080
|
T | TATAAATA others(423): Show |
1 | a0001c0001t0001g0127 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.639-7324_639-7323i others(432): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437080 | ||||||
| chr1:196437080
|
T | TATAAATA others(383): Show |
1 | a0001c0001t0003g0082 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.639-7324_639-7323i others(392): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437080 | ||||||
| chr1:196437080
|
T | TATAAATA others(423): Show |
1 | a0001c0001t0001g0129 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.639-7324_639-7323i others(432): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437080 | ||||||
| chr1:196437080
|
T | TATAAATA others(337): Show |
1 | a0001c0001t0009g0038 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.639-7324_639-7323i others(346): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437080 | ||||||
| chr1:196437080
|
T | TATAAATA others(288): Show |
2 | a0001c0001t0001g0039a0001c0001t0003g0035 | 2 | HG02451.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.639-7324_639-7323i others(297): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437080 | ||||||
| chr1:196437080
|
T | TATAAATA others(313): Show |
12 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(9): Show | 12 | HG01109.hp2 HG02572.hp1 HG02717.hp1 others(9): Show |
intron_variant | MODIFIER | c.639-7324_639-7323i others(322): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437080 | ||||||
| chr1:196437084
|
A | AATATATA others(251): Show |
1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.639-7328_639-7327i others(260): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437084 | ||||||
| chr1:196437084
|
A | AATATATA others(273): Show |
1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.639-7328_639-7327i others(282): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437084 | ||||||
| chr1:196437093
|
T | TTATATAC others(277): Show |
2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.639-7337_639-7336i others(286): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437093 | ||||||
| chr1:196437094
|
T | TATATACA others(249): Show |
1 | a0001c0001t0001g0075 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.639-7338_639-7337i others(258): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437094 | ||||||
| chr1:196437094
|
T | TATATACA others(259): Show |
1 | a0001c0001t0001g0069 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.639-7338_639-7337i others(268): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437094 | ||||||
| chr1:196437094
|
T | TATATACA others(259): Show |
29 | a0001c0001t0001g0018a0001c0001t0001g0041a0001c0001t0001g0042others(26): Show | 29 | HG00140.hp1 HG00673.hp1 HG00735.hp1 others(26): Show |
intron_variant | MODIFIER | c.639-7338_639-7337i others(268): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437094 | ||||||
| chr1:196437094
|
T | TATATACA others(279): Show |
4 | a0001c0001t0001g0046a0001c0001t0001g0056a0001c0001t0001g0071others(1): Show | 4 | HG01261.hp1 HG02630.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.639-7338_639-7337i others(288): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437094 | ||||||
| chr1:196437094
|
T | TATATACA others(313): Show |
6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.639-7338_639-7337i others(322): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437094 | ||||||
| chr1:196437094
|
T | TATATACA others(337): Show |
1 | a0001c0001t0001g0101 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.639-7338_639-7337i others(346): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437094 | ||||||
| chr1:196437094
|
T | TATATACA others(308): Show |
1 | a0001c0001t0001g0047 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.639-7338_639-7337i others(317): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437094 | ||||||
| chr1:196437094
|
T | TATATACA others(287): Show |
2 | a0001c0001t0001g0090a0001c0007t0001g0091 | 2 | HG02258.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.639-7338_639-7337i others(296): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437094 | ||||||
| chr1:196437103
|
T | A | 1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.639-7346A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437103 | ||||||
| chr1:196437103
|
T | C | 2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.639-7346A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437103 | ||||||
| chr1:196437104
|
T | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.639-7347A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437104 | ||||||
| chr1:196437138
|
T | A | 79 | a0001c0001t0001g0018a0001c0001t0001g0027a0001c0001t0001g0041others(76): Show | 79 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(76): Show |
intron_variant | MODIFIER | c.639-7381A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437138 | ||||||
| chr1:196437160
|
G | A | 23 | a0001c0001t0001g0027a0001c0001t0002g0007a0001c0001t0002g0028others(20): Show | 23 | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(20): Show |
intron_variant | MODIFIER | c.639-7403C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437160 | ||||||
| chr1:196437185
|
G | C | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.639-7428C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437185 | ||||||
| chr1:196437284
|
T | A | 1 | a0001c0003t0001g0111 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.639-7527A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437284 | ||||||
| chr1:196437289
|
AT | A | 47 | a0001c0001t0001g0018a0001c0001t0001g0040a0001c0001t0001g0041others(44): Show | 47 | HG00140.hp1 HG00323.hp2 HG00673.hp1 others(44): Show |
intron_variant | MODIFIER | c.639-7533delA | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437289 | ||||||
| chr1:196437347
|
T | C | 21 | a0001c0001t0001g0027a0001c0001t0002g0007a0001c0001t0002g0028others(18): Show | 21 | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(18): Show |
intron_variant | MODIFIER | c.639-7590A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437347 | ||||||
| chr1:196437352
|
A | G | 1 | a0001c0001t0002g0050 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.639-7595T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437352 | ||||||
| chr1:196437384
|
A | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.639-7627T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437384 | ||||||
| chr1:196437487
|
C | T | 79 | a0001c0001t0001g0018a0001c0001t0001g0027a0001c0001t0001g0041others(76): Show | 79 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(76): Show |
intron_variant | MODIFIER | c.639-7730G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437487 | ||||||
| chr1:196437496
|
A | C | 1 | a0001c0001t0001g0021 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.639-7739T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437496 | ||||||
| chr1:196437530
|
A | G | 1 | a0001c0001t0010g0097 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.639-7773T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437530 | ||||||
| chr1:196437555
|
A | T | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.639-7798T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437555 | ||||||
| chr1:196437585
|
T | C | 68 | a0001c0001t0001g0018a0001c0001t0001g0027a0001c0001t0001g0041others(65): Show | 68 | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(65): Show |
intron_variant | MODIFIER | c.639-7828A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437585 | ||||||
| chr1:196437653
|
C | T | 2 | a0001c0001t0001g0056a0001c0001t0001g0077 | 2 | HG02630.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.639-7896G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437653 | ||||||
| chr1:196437945
|
C | T | 23 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0017others(20): Show | 23 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(20): Show |
intron_variant | MODIFIER | c.639-8188G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437945 | ||||||
| chr1:196437973
|
A | G | 21 | a0001c0001t0001g0027a0001c0001t0002g0007a0001c0001t0002g0028others(18): Show | 21 | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(18): Show |
intron_variant | MODIFIER | c.639-8216T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196437973 | ||||||
| chr1:196438250
|
T | C | 1 | a0001c0001t0001g0131 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.639-8493A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196438250 | ||||||
| chr1:196438468
|
G | A | 1 | a0001c0001t0001g0073 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.639-8711C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196438468 | ||||||
| chr1:196438705
|
C | T | 1 | a0001c0001t0002g0118 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.639-8948G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196438705 | ||||||
| chr1:196438926
|
C | T | 1 | a0001c0001t0001g0025 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.639-9169G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196438926 | ||||||
| chr1:196438989
|
A | G | 1 | a0001c0001t0001g0003 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.639-9232T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196438989 | ||||||
| chr1:196439175
|
A | G | 1 | a0001c0001t0001g0072 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.639-9418T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196439175 | ||||||
| chr1:196439344
|
A | T | 3 | a0001c0001t0002g0049a0001c0001t0002g0050a0001c0001t0002g0051 | 3 | HG00639.hp1 HG01074.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.639-9587T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196439344 | ||||||
| chr1:196439471
|
T | C | 1 | a0001c0001t0002g0050 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.639-9714A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196439471 | ||||||
| chr1:196439581
|
T | A | 1 | a0001c0003t0008g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.639-9824A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196439581 | ||||||
| chr1:196439794
|
C | T | 1 | a0001c0001t0001g0075 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.639-10037G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196439794 | ||||||
| chr1:196439911
|
G | C | 5 | a0001c0002t0001g0121a0001c0002t0001g0123a0001c0002t0001g0124others(2): Show | 5 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.639-10154C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196439911 | ||||||
| chr1:196440463
|
C | A | 21 | a0001c0001t0001g0027a0001c0001t0002g0007a0001c0001t0002g0028others(18): Show | 21 | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(18): Show |
intron_variant | MODIFIER | c.639-10706G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196440463 | ||||||
| chr1:196440907
|
T | C | 5 | a0001c0002t0001g0121a0001c0002t0001g0123a0001c0002t0001g0124others(2): Show | 5 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.639-11150A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196440907 | ||||||
| chr1:196440978
|
T | G | 1 | a0001c0001t0001g0130 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.639-11221A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196440978 | ||||||
| chr1:196441011
|
G | T | 1 | a0001c0001t0003g0082 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.639-11254C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196441011 | ||||||
| chr1:196441153
|
G | A | 1 | a0001c0001t0001g0090 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.639-11396C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196441153 | ||||||
| chr1:196441410
|
A | G | 1 | a0001c0001t0001g0084 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.639-11653T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196441410 | ||||||
| chr1:196441425
|
CTTT | C | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.639-11671_639-1166 others(7): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196441425 | ||||||
| chr1:196441837
|
T | C | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.639-12080A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196441837 | ||||||
| chr1:196441964
|
G | A | 1 | a0001c0001t0002g0114 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.639-12207C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196441964 | ||||||
| chr1:196442151
|
G | A | 20 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(17): Show | 20 | HG01109.hp2 HG02572.hp1 HG02622.hp2 others(17): Show |
intron_variant | MODIFIER | c.639-12394C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196442151 | ||||||
| chr1:196442182
|
G | A | 1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.639-12425C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196442182 | ||||||
| chr1:196442501
|
A | G | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.639-12744T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196442501 | ||||||
| chr1:196442763
|
G | A | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.639-13006C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196442763 | ||||||
| chr1:196442805
|
C | T | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.639-13048G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196442805 | ||||||
| chr1:196442940
|
A | G | 21 | a0001c0001t0001g0027a0001c0001t0002g0007a0001c0001t0002g0028others(18): Show | 21 | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(18): Show |
intron_variant | MODIFIER | c.639-13183T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196442940 | ||||||
| chr1:196442958
|
C | T | 110 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(107): Show | 110 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(107): Show |
intron_variant | MODIFIER | c.639-13201G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196442958 | ||||||
| chr1:196443219
|
A | C | 1 | a0001c0001t0005g0106 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.639-13462T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196443219 | ||||||
| chr1:196443267
|
C | A | 110 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(107): Show | 110 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(107): Show |
intron_variant | MODIFIER | c.639-13510G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196443267 | ||||||
| chr1:196443281
|
C | A | 1 | a0001c0001t0002g0028 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.639-13524G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196443281 | ||||||
| chr1:196443353
|
C | A | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.639-13596G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196443353 | ||||||
| chr1:196443371
|
G | A | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.639-13614C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196443371 | ||||||
| chr1:196443686
|
G | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.639-13929C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196443686 | ||||||
| chr1:196443794
|
G | T | 1 | a0001c0001t0001g0135 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.639-14037C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196443794 | ||||||
| chr1:196443843
|
G | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.639-14086C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196443843 | ||||||
| chr1:196444440
|
A | G | 14 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(11): Show | 14 | HG01109.hp2 HG02572.hp1 HG02717.hp1 others(11): Show |
intron_variant | MODIFIER | c.639-14683T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196444440 | ||||||
| chr1:196444633
|
G | A | 21 | a0001c0001t0001g0027a0001c0001t0002g0007a0001c0001t0002g0028others(18): Show | 21 | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(18): Show |
intron_variant | MODIFIER | c.639-14876C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196444633 | ||||||
| chr1:196444835
|
C | A | 1 | a0001c0001t0001g0023 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.639-15078G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196444835 | ||||||
| chr1:196445021
|
A | T | 1 | a0001c0001t0001g0071 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.639-15264T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196445021 | ||||||
| chr1:196445161
|
T | G | 21 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(18): Show | 21 | HG01109.hp2 HG02572.hp1 HG02647.hp2 others(18): Show |
intron_variant | MODIFIER | c.639-15404A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196445161 | ||||||
| chr1:196445631
|
G | T | 1 | a0001c0002t0001g0121 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.639-15874C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196445631 | ||||||
| chr1:196445820
|
A | G | 7 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(4): Show | 7 | HG02647.hp2 HG02809.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.639-16063T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196445820 | ||||||
| chr1:196445905
|
C | CA | 14 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(11): Show | 14 | HG01109.hp2 HG02572.hp1 HG02717.hp1 others(11): Show |
intron_variant | MODIFIER | c.639-16149dupT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196445905 | ||||||
| chr1:196446228
|
G | A | 1 | a0001c0001t0001g0105 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.639-16471C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196446228 | ||||||
| chr1:196446319
|
G | A | 2 | a0001c0001t0001g0039a0001c0001t0003g0035 | 2 | HG02451.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.639-16562C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196446319 | ||||||
| chr1:196446890
|
T | C | 14 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(11): Show | 14 | HG01109.hp2 HG02572.hp1 HG02717.hp1 others(11): Show |
intron_variant | MODIFIER | c.639-17133A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196446890 | ||||||
| chr1:196446905
|
T | C | 1 | a0001c0001t0001g0064 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.639-17148A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196446905 | ||||||
| chr1:196446926
|
A | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.639-17169T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196446926 | ||||||
| chr1:196446971
|
T | C | 1 | a0001c0001t0001g0006 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.639-17214A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196446971 | ||||||
| chr1:196447081
|
T | C | 10 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(7): Show | 10 | HG02257.hp1 HG02451.hp1 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.639-17324A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196447081 | ||||||
| chr1:196447122
|
A | G | 23 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0017others(20): Show | 23 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(20): Show |
intron_variant | MODIFIER | c.639-17365T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196447122 | ||||||
| chr1:196447202
|
C | T | 129 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(126): Show | 129 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(126): Show |
intron_variant | MODIFIER | c.639-17445G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196447202 | ||||||
| chr1:196447303
|
T | C | 1 | a0001c0001t0003g0089 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.639-17546A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196447303 | ||||||
| chr1:196447796
|
C | T | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.638+17497G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196447796 | ||||||
| chr1:196447806
|
GAC | G | 15 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0017others(12): Show | 15 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(12): Show |
intron_variant | MODIFIER | c.638+17485_638+1748 others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196447806 | ||||||
| chr1:196447846
|
G | A | 12 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(9): Show | 12 | HG01109.hp2 HG02572.hp1 HG02717.hp1 others(9): Show |
intron_variant | MODIFIER | c.638+17447C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196447846 | ||||||
| chr1:196448042
|
G | A | 1 | a0001c0001t0011g0066 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.638+17251C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196448042 | ||||||
| chr1:196448417
|
C | A | 1 | a0001c0001t0001g0041 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.638+16876G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196448417 | ||||||
| chr1:196448462
|
T | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.638+16831A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196448462 | ||||||
| chr1:196448552
|
C | A | 1 | a0001c0001t0002g0028 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.638+16741G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196448552 | ||||||
| chr1:196448559
|
TAATGTTT others(4): Show |
T | 1 | a0001c0001t0001g0003 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.638+16723_638+1673 others(15): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196448559 | ||||||
| chr1:196448723
|
T | C | 7 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(4): Show | 7 | HG02647.hp2 HG02809.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.638+16570A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196448723 | ||||||
| chr1:196448777
|
C | T | 1 | a0001c0001t0001g0039 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.638+16516G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196448777 | ||||||
| chr1:196448868
|
A | G | 1 | a0001c0001t0007g0119 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.638+16425T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196448868 | ||||||
| chr1:196448873
|
A | G | 1 | a0001c0001t0001g0025 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.638+16420T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196448873 | ||||||
| chr1:196449205
|
T | C | 2 | a0001c0001t0001g0039a0001c0001t0003g0035 | 2 | HG02451.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.638+16088A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196449205 | ||||||
| chr1:196449397
|
G | A | 55 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(52): Show | 55 | HG00140.hp2 HG00323.hp1 HG00639.hp2 others(52): Show |
intron_variant | MODIFIER | c.638+15896C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196449397 | ||||||
| chr1:196449461
|
T | A | 7 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(4): Show | 7 | HG02647.hp2 HG02809.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.638+15832A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196449461 | ||||||
| chr1:196449786
|
G | T | 14 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(11): Show | 14 | HG01109.hp2 HG02572.hp1 HG02717.hp1 others(11): Show |
intron_variant | MODIFIER | c.638+15507C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196449786 | ||||||
| chr1:196449959
|
G | A | 1 | a0001c0001t0002g0118 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.638+15334C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196449959 | ||||||
| chr1:196450213
|
A | G | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.638+15080T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196450213 | ||||||
| chr1:196450289
|
C | T | 1 | a0001c0007t0001g0091 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.638+15004G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196450289 | ||||||
| chr1:196450553
|
A | G | 1 | a0001c0002t0001g0125 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.638+14740T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196450553 | ||||||
| chr1:196450724
|
C | G | 1 | a0001c0001t0001g0083 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.638+14569G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196450724 | ||||||
| chr1:196450744
|
T | G | 1 | a0001c0001t0001g0107 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.638+14549A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196450744 | ||||||
| chr1:196450758
|
C | T | 1 | a0001c0001t0001g0010 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.638+14535G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196450758 | ||||||
| chr1:196450802
|
CGTCT | C | 8 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(5): Show | 8 | HG02257.hp1 HG02630.hp1 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.638+14487_638+1449 others(8): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196450802 | ||||||
| chr1:196451157
|
C | T | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.638+14136G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196451157 | ||||||
| chr1:196451180
|
C | G | 7 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(4): Show | 7 | HG02622.hp2 HG02723.hp1 HG02965.hp1 others(4): Show |
intron_variant | MODIFIER | c.638+14113G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196451180 | ||||||
| chr1:196451182
|
C | T | 21 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(18): Show | 21 | HG01109.hp2 HG02572.hp1 HG02622.hp2 others(18): Show |
intron_variant | MODIFIER | c.638+14111G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196451182 | ||||||
| chr1:196451217
|
C | CT | 37 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0018others(34): Show | 37 | HG00140.hp1 HG00673.hp1 HG00735.hp1 others(34): Show |
intron_variant | MODIFIER | c.638+14075dupA | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196451217 | ||||||
| chr1:196451217
|
C | CTT | 28 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0010others(25): Show | 28 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(25): Show |
intron_variant | MODIFIER | c.638+14074_638+1407 others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196451217 | ||||||
| chr1:196451217
|
C | CTTT | 5 | a0001c0001t0001g0003a0001c0001t0001g0023a0001c0001t0001g0105others(2): Show | 5 | HG01175.hp1 HG02145.hp2 HG02717.hp2 others(2): Show |
intron_variant | MODIFIER | c.638+14073_638+1407 others(7): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196451217 | ||||||
| chr1:196451217
|
CTT | C | 6 | a0001c0001t0001g0128a0001c0001t0003g0082a0001c0002t0001g0121others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.638+14074_638+1407 others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196451217 | ||||||
| chr1:196451217
|
CTTT | C | 7 | a0001c0001t0001g0127a0001c0001t0001g0129a0001c0001t0001g0130others(4): Show | 7 | HG02572.hp1 HG02647.hp2 HG02809.hp1 others(4): Show |
intron_variant | MODIFIER | c.638+14073_638+1407 others(7): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196451217 | ||||||
| chr1:196451217
|
CTTTT | C | 14 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(11): Show | 14 | HG01109.hp2 HG02622.hp2 HG02717.hp1 others(11): Show |
intron_variant | MODIFIER | c.638+14072_638+1407 others(8): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196451217 | ||||||
| chr1:196451217
|
CTTTTT | C | 5 | a0001c0001t0001g0092a0001c0001t0001g0093a0001c0001t0001g0094others(2): Show | 5 | HG02818.hp2 HG02897.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.638+14071_638+1407 others(9): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196451217 | ||||||
| chr1:196451222
|
T | A | 2 | a0001c0001t0005g0100a0001c0001t0010g0097 | 2 | HG02572.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.638+14071A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196451222 | ||||||
| chr1:196451223
|
T | A | 14 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(11): Show | 14 | HG01109.hp2 HG02622.hp2 HG02717.hp1 others(11): Show |
intron_variant | MODIFIER | c.638+14070A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196451223 | ||||||
| chr1:196451224
|
T | A | 5 | a0001c0001t0001g0092a0001c0001t0001g0093a0001c0001t0001g0094others(2): Show | 5 | HG02818.hp2 HG02897.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.638+14069A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196451224 | ||||||
| chr1:196451305
|
A | G | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.638+13988T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196451305 | ||||||
| chr1:196451386
|
G | A | 2 | a0001c0001t0005g0100a0001c0001t0005g0106 | 2 | HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.638+13907C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196451386 | ||||||
| chr1:196451407
|
A | AT | 15 | a0001c0001t0001g0071a0001c0001t0002g0007a0001c0001t0002g0028others(12): Show | 15 | HG00735.hp2 HG00741.hp1 HG01106.hp2 others(12): Show |
intron_variant | MODIFIER | c.638+13885dupA | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196451407 | ||||||
| chr1:196451407
|
AT | A | 17 | a0001c0001t0001g0025a0001c0001t0001g0041a0001c0001t0001g0047others(14): Show | 17 | HG00323.hp1 HG01081.hp2 HG01168.hp2 others(14): Show |
intron_variant | MODIFIER | c.638+13885delA | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196451407 | ||||||
| chr1:196451407
|
ATT | A | 74 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(71): Show | 74 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(71): Show |
intron_variant | MODIFIER | c.638+13884_638+1388 others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196451407 | ||||||
| chr1:196451409
|
T | A | 1 | a0001c0006t0001g0067 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.638+13884A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196451409 | ||||||
| chr1:196451409
|
T | C | 2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.638+13884A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196451409 | ||||||
| chr1:196451415
|
T | C | 1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.638+13878A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196451415 | ||||||
| chr1:196451434
|
G | T | 135 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(132): Show | 135 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(132): Show |
intron_variant | MODIFIER | c.638+13859C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196451434 | ||||||
| chr1:196451502
|
T | C | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.638+13791A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196451502 | ||||||
| chr1:196451709
|
T | C | 12 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(9): Show | 12 | HG01109.hp2 HG02572.hp1 HG02717.hp1 others(9): Show |
intron_variant | MODIFIER | c.638+13584A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196451709 | ||||||
| chr1:196452163
|
C | T | 1 | a0001c0001t0001g0045 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.638+13130G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196452163 | ||||||
| chr1:196452248
|
A | T | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.638+13045T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196452248 | ||||||
| chr1:196452268
|
C | T | 14 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(11): Show | 14 | HG01109.hp2 HG02572.hp1 HG02717.hp1 others(11): Show |
intron_variant | MODIFIER | c.638+13025G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196452268 | ||||||
| chr1:196452409
|
C | T | 12 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(9): Show | 12 | HG01109.hp2 HG02572.hp1 HG02717.hp1 others(9): Show |
intron_variant | MODIFIER | c.638+12884G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196452409 | ||||||
| chr1:196452503
|
A | C | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.638+12790T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196452503 | ||||||
| chr1:196452725
|
TG | T | 129 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(126): Show | 129 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(126): Show |
intron_variant | MODIFIER | c.638+12567delC | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196452725 | ||||||
| chr1:196452726
|
G | C | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.638+12567C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196452726 | ||||||
| chr1:196452870
|
G | A | 7 | a0001c0001t0002g0113a0001c0001t0002g0114a0001c0001t0002g0115others(4): Show | 7 | HG02258.hp2 HG02647.hp1 HG03669.hp1 others(4): Show |
intron_variant | MODIFIER | c.638+12423C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196452870 | ||||||
| chr1:196452965
|
T | C | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.638+12328A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196452965 | ||||||
| chr1:196453301
|
G | A | 12 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(9): Show | 12 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(9): Show |
intron_variant | MODIFIER | c.638+11992C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196453301 | ||||||
| chr1:196453588
|
T | A | 2 | a0001c0001t0002g0115a0001c0001t0002g0116 | 2 | HG02258.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.638+11705A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196453588 | ||||||
| chr1:196453687
|
C | T | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.638+11606G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196453687 | ||||||
| chr1:196453696
|
A | G | 4 | a0001c0001t0001g0017a0001c0001t0001g0019a0001c0001t0001g0021others(1): Show | 4 | HG00140.hp2 HG00639.hp2 HG01074.hp2 others(1): Show |
intron_variant | MODIFIER | c.638+11597T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196453696 | ||||||
| chr1:196453720
|
C | T | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.638+11573G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196453720 | ||||||
| chr1:196453740
|
A | T | 1 | a0001c0001t0001g0021 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.638+11553T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196453740 | ||||||
| chr1:196453896
|
C | G | 1 | a0001c0001t0001g0084 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.638+11397G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196453896 | ||||||
| chr1:196453996
|
A | AT | 46 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(43): Show | 46 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(43): Show |
intron_variant | MODIFIER | c.638+11296dupA | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196453996 | ||||||
| chr1:196454255
|
T | C | 7 | a0001c0001t0002g0113a0001c0001t0002g0114a0001c0001t0002g0115others(4): Show | 7 | HG02258.hp2 HG02647.hp1 HG03669.hp1 others(4): Show |
intron_variant | MODIFIER | c.638+11038A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196454255 | ||||||
| chr1:196454345
|
C | T | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.638+10948G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196454345 | ||||||
| chr1:196454370
|
C | G | 1 | a0001c0001t0010g0097 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.638+10923G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196454370 | ||||||
| chr1:196454598
|
A | G | 3 | a0001c0001t0001g0036a0001c0001t0001g0037a0001c0001t0001g0120 | 3 | HG02109.hp2 HG03041.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.638+10695T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196454598 | ||||||
| chr1:196454658
|
C | T | 1 | a0001c0001t0003g0082 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.638+10635G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196454658 | ||||||
| chr1:196454760
|
T | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.638+10533A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196454760 | ||||||
| chr1:196454836
|
C | A | 2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.638+10457G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196454836 | ||||||
| chr1:196454886
|
G | C | 102 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(99): Show | 102 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(99): Show |
intron_variant | MODIFIER | c.638+10407C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196454886 | ||||||
| chr1:196455076
|
G | C | 14 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(11): Show | 14 | HG01109.hp2 HG02258.hp1 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.638+10217C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196455076 | ||||||
| chr1:196455376
|
A | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.638+9917T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196455376 | ||||||
| chr1:196455667
|
G | C | 1 | a0001c0001t0001g0047 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.638+9626C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196455667 | ||||||
| chr1:196455948
|
T | C | 1 | a0001c0002t0001g0122 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.638+9345A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196455948 | ||||||
| chr1:196456003
|
A | G | 40 | a0001c0001t0001g0018a0001c0001t0001g0041a0001c0001t0001g0042others(37): Show | 40 | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(37): Show |
intron_variant | MODIFIER | c.638+9290T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196456003 | ||||||
| chr1:196456059
|
G | C | 1 | a0001c0001t0001g0107 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.638+9234C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196456059 | ||||||
| chr1:196456202
|
G | A | 1 | a0001c0001t0005g0100 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.638+9091C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196456202 | ||||||
| chr1:196456289
|
A | C | 1 | a0001c0001t0001g0037 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.638+9004T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196456289 | ||||||
| chr1:196456674
|
A | G | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.638+8619T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196456674 | ||||||
| chr1:196456702
|
T | G | 3 | a0001c0001t0001g0039a0001c0001t0003g0035a0001c0001t0005g0106 | 3 | HG02451.hp1 HG03130.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.638+8591A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196456702 | ||||||
| chr1:196457522
|
C | CA | 12 | a0001c0001t0001g0041a0001c0001t0001g0055a0001c0001t0001g0056others(9): Show | 12 | HG00140.hp1 HG00323.hp2 HG00735.hp1 others(9): Show |
intron_variant | MODIFIER | c.638+7770dupT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196457522 | ||||||
| chr1:196457562
|
GACA | G | 13 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(10): Show | 13 | HG01109.hp2 HG02258.hp1 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.638+7728_638+7730d others(5): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196457562 | ||||||
| chr1:196457711
|
A | G | 44 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(41): Show | 44 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(41): Show |
intron_variant | MODIFIER | c.638+7582T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196457711 | ||||||
| chr1:196458681
|
T | C | 45 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(42): Show | 45 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(42): Show |
intron_variant | MODIFIER | c.638+6612A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196458681 | ||||||
| chr1:196458693
|
A | G | 8 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(5): Show | 8 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.638+6600T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196458693 | ||||||
| chr1:196459109
|
A | AT | 8 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(5): Show | 8 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.638+6183dupA | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196459109 | ||||||
| chr1:196459177
|
C | T | 1 | a0001c0002t0001g0122 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.638+6116G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196459177 | ||||||
| chr1:196459639
|
T | C | 44 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(41): Show | 44 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(41): Show |
intron_variant | MODIFIER | c.638+5654A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196459639 | ||||||
| chr1:196459713
|
T | C | 3 | a0001c0001t0001g0043a0001c0001t0001g0054a0001c0001t0001g0070 | 3 | HG01106.hp1 HG01496.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.638+5580A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196459713 | ||||||
| chr1:196459769
|
C | T | 1 | a0001c0001t0001g0017 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.638+5524G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196459769 | ||||||
| chr1:196459971
|
C | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.638+5322G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196459971 | ||||||
| chr1:196460031
|
G | A | 8 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(5): Show | 8 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.638+5262C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196460031 | ||||||
| chr1:196460205
|
A | AT | 4 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(1): Show | 4 | HG02717.hp2 HG02895.hp2 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.638+5087dupA | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196460205 | ||||||
| chr1:196460502
|
A | G | 1 | a0001c0001t0001g0090 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.638+4791T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196460502 | ||||||
| chr1:196460544
|
C | T | 8 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(5): Show | 8 | HG02622.hp2 HG02723.hp1 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.638+4749G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196460544 | ||||||
| chr1:196460653
|
C | T | 1 | a0001c0001t0001g0075 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.638+4640G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196460653 | ||||||
| chr1:196460833
|
G | A | 10 | a0001c0001t0001g0027a0001c0001t0001g0134a0001c0001t0001g0135others(7): Show | 10 | HG00741.hp1 HG01081.hp1 HG01168.hp1 others(7): Show |
intron_variant | MODIFIER | c.638+4460C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196460833 | ||||||
| chr1:196460833
|
G | T | 8 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(5): Show | 8 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.638+4460C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196460833 | ||||||
| chr1:196461040
|
A | C | 1 | a0001c0001t0002g0051 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.638+4253T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196461040 | ||||||
| chr1:196461109
|
A | G | 8 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(5): Show | 8 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.638+4184T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196461109 | ||||||
| chr1:196461182
|
G | C | 1 | a0001c0001t0001g0036 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.638+4111C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196461182 | ||||||
| chr1:196461190
|
G | T | 8 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(5): Show | 8 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.638+4103C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196461190 | ||||||
| chr1:196461217
|
GT | G | 13 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(10): Show | 13 | HG01109.hp2 HG02258.hp1 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.638+4075delA | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196461217 | ||||||
| chr1:196461291
|
T | A | 1 | a0001c0001t0005g0106 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.638+4002A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196461291 | ||||||
| chr1:196461421
|
T | C | 4 | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0001t0003g0082others(1): Show | 4 | HG03130.hp1 HG03225.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.638+3872A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196461421 | ||||||
| chr1:196461739
|
A | T | 5 | a0001c0001t0002g0113a0001c0001t0002g0114a0001c0001t0002g0117others(2): Show | 5 | HG03669.hp1 HG03834.hp2 HG04115.hp1 others(2): Show |
intron_variant | MODIFIER | c.638+3554T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196461739 | ||||||
| chr1:196462026
|
C | A | 25 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(22): Show | 25 | HG00323.hp1 HG01081.hp2 HG01109.hp2 others(22): Show |
intron_variant | MODIFIER | c.638+3267G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196462026 | ||||||
| chr1:196462046
|
T | C | 6 | a0001c0001t0001g0088a0001c0001t0001g0102a0001c0001t0001g0105others(3): Show | 6 | HG02145.hp2 HG02723.hp2 HG06807.hp2 others(3): Show |
intron_variant | MODIFIER | c.638+3247A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196462046 | ||||||
| chr1:196463028
|
A | G | 50 | a0001c0001t0001g0018a0001c0001t0001g0041a0001c0001t0001g0042others(47): Show | 50 | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.638+2265T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196463028 | ||||||
| chr1:196463168
|
G | C | 2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.638+2125C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196463168 | ||||||
| chr1:196463283
|
T | C | 1 | a0001c0002t0001g0122 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.638+2010A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196463283 | ||||||
| chr1:196463295
|
T | C | 3 | a0001c0001t0001g0088a0001c0001t0001g0102a0001c0001t0001g0105 | 3 | HG02723.hp2 NA19030.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.638+1998A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196463295 | ||||||
| chr1:196463422
|
T | C | 2 | a0001c0001t0001g0056a0001c0001t0001g0077 | 2 | HG02630.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.638+1871A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196463422 | ||||||
| chr1:196463581
|
G | A | 1 | a0001c0002t0001g0122 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.638+1712C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196463581 | ||||||
| chr1:196463684
|
A | C | 8 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(5): Show | 8 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.638+1609T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196463684 | ||||||
| chr1:196463694
|
T | G | 1 | a0001c0001t0002g0032 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.638+1599A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196463694 | ||||||
| chr1:196464077
|
T | A | 3 | a0001c0001t0001g0027a0001c0001t0001g0120a0001c0002t0001g0122 | 3 | HG03041.hp1 HG03209.hp1 NA18984.hp1 |
intron_variant | MODIFIER | c.638+1216A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196464077 | ||||||
| chr1:196464151
|
G | A | 1 | a0001c0007t0001g0091 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.638+1142C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196464151 | ||||||
| chr1:196464254
|
G | A | 50 | a0001c0001t0001g0018a0001c0001t0001g0041a0001c0001t0001g0042others(47): Show | 50 | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.638+1039C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196464254 | ||||||
| chr1:196464363
|
A | G | 1 | a0001c0001t0001g0080 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.638+930T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196464363 | ||||||
| chr1:196464534
|
T | C | 1 | a0001c0001t0005g0106 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.638+759A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196464534 | ||||||
| chr1:196464535
|
A | C | 1 | a0001c0001t0002g0032 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.638+758T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196464535 | ||||||
| chr1:196464732
|
C | A | 13 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(10): Show | 13 | HG01109.hp2 HG02258.hp1 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.638+561G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196464732 | ||||||
| chr1:196464740
|
G | A | 45 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(42): Show | 45 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(42): Show |
intron_variant | MODIFIER | c.638+553C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196464740 | ||||||
| chr1:196464827
|
G | C | 7 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(4): Show | 7 | HG02572.hp1 HG02717.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.638+466C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196464827 | ||||||
| chr1:196464992
|
A | G | 5 | a0001c0002t0001g0121a0001c0002t0001g0123a0001c0002t0001g0124others(2): Show | 5 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.638+301T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | 196464992 | ||||||
| chr1:196465601
|
C | G | 131 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(128): Show | 131 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(128): Show |
intron_variant | MODIFIER | c.544-214G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 7/27 | chr1 | 196465601 | ||||||
| chr1:196465670
|
C | T | 1 | a0001c0001t0006g0001 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.544-283G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 7/27 | chr1 | 196465670 | ||||||
| chr1:196465680
|
C | A | 11 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(8): Show | 11 | HG01109.hp2 HG02572.hp1 HG02717.hp1 others(8): Show |
intron_variant | MODIFIER | c.544-293G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 7/27 | chr1 | 196465680 | ||||||
| chr1:196465875
|
T | C | 3 | a0001c0005t0001g0014a0001c0005t0001g0015a0001c0005t0001g0016 | 3 | HG02257.hp1 HG02630.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.544-488A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 7/27 | chr1 | 196465875 | ||||||
| chr1:196465964
|
C | T | 1 | a0001c0001t0001g0090 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.544-577G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 7/27 | chr1 | 196465964 | ||||||
| chr1:196466526
|
G | T | 3 | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0001t0009g0038 | 3 | HG03225.hp2 HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.544-1139C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 7/27 | chr1 | 196466526 | ||||||
| chr1:196466635
|
T | C | 1 | a0001c0001t0001g0037 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.543+1068A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 7/27 | chr1 | 196466635 | ||||||
| chr1:196466878
|
T | C | 3 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010 | 3 | HG02895.hp2 HG02897.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.543+825A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 7/27 | chr1 | 196466878 | ||||||
| chr1:196466889
|
A | G | 1 | a0001c0001t0001g0071 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.543+814T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 7/27 | chr1 | 196466889 | ||||||
| chr1:196467417
|
TTAAC | T | 13 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(10): Show | 13 | HG01109.hp2 HG02258.hp1 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.543+282_543+285del others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 7/27 | chr1 | 196467417 | ||||||
| chr1:196467521
|
C | T | 1 | a0001c0003t0008g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.543+182G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 7/27 | chr1 | 196467521 | ||||||
| chr1:196467912
|
T | C | 10 | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0001t0002g0113others(7): Show | 10 | HG02258.hp2 HG02647.hp1 HG03225.hp2 others(7): Show |
intron_variant | MODIFIER | c.460-126A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 6/27 | chr1 | 196467912 | ||||||
| chr1:196468079
|
G | T | 5 | a0001c0001t0002g0113a0001c0001t0002g0114a0001c0001t0002g0117others(2): Show | 5 | HG03669.hp1 HG03834.hp2 HG04115.hp1 others(2): Show |
intron_variant | MODIFIER | c.460-293C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 6/27 | chr1 | 196468079 | ||||||
| chr1:196468105
|
T | C | 13 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(10): Show | 13 | HG01109.hp2 HG02258.hp1 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.460-319A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 6/27 | chr1 | 196468105 | ||||||
| chr1:196468560
|
A | T | 1 | a0001c0002t0001g0122 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.459+434T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 6/27 | chr1 | 196468560 | ||||||
| chr1:196468674
|
T | A | 9 | a0001c0001t0001g0041a0001c0001t0001g0055a0001c0001t0001g0058others(6): Show | 9 | HG00140.hp1 HG00323.hp2 HG00735.hp1 others(6): Show |
intron_variant | MODIFIER | c.459+320A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 6/27 | chr1 | 196468674 | ||||||
| chr1:196468726
|
T | A | 2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.459+268A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 6/27 | chr1 | 196468726 | ||||||
| chr1:196468812
|
A | G | 1 | a0001c0001t0005g0106 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.459+182T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 6/27 | chr1 | 196468812 | ||||||
| chr1:196468813
|
G | C | 10 | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0001t0002g0113others(7): Show | 10 | HG02258.hp2 HG02647.hp1 HG03225.hp2 others(7): Show |
intron_variant | MODIFIER | c.459+181C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 6/27 | chr1 | 196468813 | ||||||
| chr1:196468985
|
A | T | 1 | a0001c0001t0001g0059 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.459+9T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 6/27 | chr1 | 196468985 | ||||||
| chr1:196469137
|
G | C | 1 | a0001c0001t0001g0021 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.385-69C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196469137 | ||||||
| chr1:196469163
|
G | A | 1 | a0001c0001t0001g0047 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.385-95C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196469163 | ||||||
| chr1:196469209
|
A | G | 8 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(5): Show | 8 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.385-141T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196469209 | ||||||
| chr1:196469252
|
C | A | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.385-184G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196469252 | ||||||
| chr1:196469288
|
T | C | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.385-220A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196469288 | ||||||
| chr1:196469456
|
GT | G | 4 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(1): Show | 4 | HG02717.hp2 HG02895.hp2 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.385-389delA | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196469456 | ||||||
| chr1:196469466
|
C | T | 1 | a0001c0001t0003g0103 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.385-398G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196469466 | ||||||
| chr1:196469819
|
A | G | 40 | a0001c0001t0001g0018a0001c0001t0001g0041a0001c0001t0001g0042others(37): Show | 40 | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(37): Show |
intron_variant | MODIFIER | c.385-751T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196469819 | ||||||
| chr1:196470440
|
T | C | 7 | a0001c0001t0002g0113a0001c0001t0002g0114a0001c0001t0002g0115others(4): Show | 7 | HG02258.hp2 HG02647.hp1 HG03669.hp1 others(4): Show |
intron_variant | MODIFIER | c.385-1372A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196470440 | ||||||
| chr1:196470583
|
C | T | 2 | a0001c0001t0001g0056a0001c0001t0001g0077 | 2 | HG02630.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.385-1515G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196470583 | ||||||
| chr1:196470672
|
A | C | 1 | a0001c0001t0006g0001 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.385-1604T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196470672 | ||||||
| chr1:196470833
|
G | T | 1 | a0001c0001t0009g0038 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.385-1765C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196470833 | ||||||
| chr1:196470876
|
CT | C | 11 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(8): Show | 11 | HG01109.hp2 HG02572.hp1 HG02717.hp1 others(8): Show |
intron_variant | MODIFIER | c.385-1809delA | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196470876 | ||||||
| chr1:196470876
|
CTT | C | 5 | a0001c0001t0001g0090a0001c0002t0001g0121a0001c0002t0001g0122others(2): Show | 5 | HG02145.hp1 HG02258.hp1 HG02280.hp1 others(2): Show |
intron_variant | MODIFIER | c.385-1810_385-1809d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196470876 | ||||||
| chr1:196470876
|
CTTT | C | 110 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(107): Show | 110 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(107): Show |
intron_variant | MODIFIER | c.385-1811_385-1809d others(5): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196470876 | ||||||
| chr1:196470876
|
CTTTT | C | 5 | a0001c0001t0001g0039a0001c0001t0001g0042a0001c0001t0001g0078others(2): Show | 5 | HG02293.hp2 HG02451.hp1 HG03486.hp2 others(2): Show |
intron_variant | MODIFIER | c.385-1812_385-1809d others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196470876 | ||||||
| chr1:196470883
|
T | C | 11 | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0001t0002g0113others(8): Show | 11 | HG02165.hp2 HG02258.hp2 HG02647.hp1 others(8): Show |
intron_variant | MODIFIER | c.385-1815A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196470883 | ||||||
| chr1:196470904
|
G | C | 1 | a0001c0001t0001g0036 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.385-1836C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196470904 | ||||||
| chr1:196470928
|
G | A | 1 | a0001c0007t0001g0091 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.385-1860C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196470928 | ||||||
| chr1:196471020
|
G | A | 1 | a0001c0001t0003g0089 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.385-1952C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196471020 | ||||||
| chr1:196471037
|
C | T | 1 | a0001c0001t0001g0069 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.385-1969G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196471037 | ||||||
| chr1:196471038
|
G | C | 40 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(37): Show | 40 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(37): Show |
intron_variant | MODIFIER | c.385-1970C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196471038 | ||||||
| chr1:196471172
|
G | C | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.385-2104C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196471172 | ||||||
| chr1:196471202
|
C | A | 1 | a0001c0003t0008g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.385-2134G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196471202 | ||||||
| chr1:196471362
|
A | T | 1 | a0001c0001t0002g0118 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.385-2294T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196471362 | ||||||
| chr1:196471459
|
A | T | 1 | a0001c0001t0001g0019 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.385-2391T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196471459 | ||||||
| chr1:196471515
|
T | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.385-2447A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196471515 | ||||||
| chr1:196471571
|
A | G | 10 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(7): Show | 10 | HG02622.hp2 HG02723.hp1 HG02818.hp1 others(7): Show |
intron_variant | MODIFIER | c.385-2503T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196471571 | ||||||
| chr1:196471716
|
ATC | A | 9 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(6): Show | 9 | HG02622.hp2 HG02723.hp1 HG02818.hp1 others(6): Show |
intron_variant | MODIFIER | c.385-2650_385-2649d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196471716 | ||||||
| chr1:196471888
|
A | T | 1 | a0001c0001t0001g0018 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.385-2820T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196471888 | ||||||
| chr1:196471951
|
T | A | 1 | a0001c0001t0001g0023 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.385-2883A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196471951 | ||||||
| chr1:196472481
|
T | G | 1 | a0001c0001t0001g0057 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.385-3413A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196472481 | ||||||
| chr1:196472548
|
C | T | 1 | a0001c0001t0001g0084 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.385-3480G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196472548 | ||||||
| chr1:196472549
|
T | G | 4 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0095others(1): Show | 4 | HG01109.hp2 HG02818.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.385-3481A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196472549 | ||||||
| chr1:196472797
|
T | C | 1 | a0001c0001t0001g0062 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.385-3729A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196472797 | ||||||
| chr1:196472950
|
T | G | 5 | a0001c0001t0001g0044a0001c0001t0001g0053a0001c0001t0001g0065others(2): Show | 5 | HG01109.hp1 HG01175.hp2 HG01891.hp2 others(2): Show |
intron_variant | MODIFIER | c.385-3882A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196472950 | ||||||
| chr1:196472951
|
A | G | 7 | a0001c0001t0002g0113a0001c0001t0002g0114a0001c0001t0002g0115others(4): Show | 7 | HG02258.hp2 HG02647.hp1 HG03669.hp1 others(4): Show |
intron_variant | MODIFIER | c.385-3883T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196472951 | ||||||
| chr1:196472975
|
T | C | 1 | a0001c0001t0003g0103 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.385-3907A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196472975 | ||||||
| chr1:196473092
|
G | A | 1 | a0001c0001t0001g0057 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.385-4024C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196473092 | ||||||
| chr1:196473396
|
T | C | 1 | a0001c0001t0003g0082 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.385-4328A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196473396 | ||||||
| chr1:196473781
|
G | A | 10 | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0001t0002g0113others(7): Show | 10 | HG02258.hp2 HG02647.hp1 HG03225.hp2 others(7): Show |
intron_variant | MODIFIER | c.385-4713C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196473781 | ||||||
| chr1:196474038
|
T | C | 7 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(4): Show | 7 | HG02572.hp1 HG02717.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.385-4970A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196474038 | ||||||
| chr1:196474421
|
G | A | 7 | a0001c0001t0002g0113a0001c0001t0002g0114a0001c0001t0002g0115others(4): Show | 7 | HG02258.hp2 HG02647.hp1 HG03669.hp1 others(4): Show |
intron_variant | MODIFIER | c.384+4758C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196474421 | ||||||
| chr1:196474535
|
C | T | 3 | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0001t0009g0038 | 3 | HG03225.hp2 HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.384+4644G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196474535 | ||||||
| chr1:196474709
|
G | A | 1 | a0001c0001t0001g0105 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.384+4470C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196474709 | ||||||
| chr1:196474797
|
T | A | 7 | a0001c0001t0002g0113a0001c0001t0002g0114a0001c0001t0002g0115others(4): Show | 7 | HG02258.hp2 HG02647.hp1 HG03669.hp1 others(4): Show |
intron_variant | MODIFIER | c.384+4382A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196474797 | ||||||
| chr1:196474823
|
C | T | 1 | a0001c0001t0001g0075 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.384+4356G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196474823 | ||||||
| chr1:196474879
|
A | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.384+4300T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196474879 | ||||||
| chr1:196475106
|
A | G | 1 | a0001c0001t0001g0084 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.384+4073T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196475106 | ||||||
| chr1:196475339
|
G | T | 2 | a0001c0001t0001g0039a0001c0001t0003g0035 | 2 | HG02451.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.384+3840C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196475339 | ||||||
| chr1:196475429
|
G | A | 3 | a0001c0001t0001g0107a0001c0001t0003g0104a0001c0001t0005g0100 | 3 | HG02145.hp2 HG06807.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.384+3750C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196475429 | ||||||
| chr1:196475478
|
G | A | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.384+3701C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196475478 | ||||||
| chr1:196475531
|
G | A | 1 | a0001c0001t0002g0116 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.384+3648C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196475531 | ||||||
| chr1:196475860
|
G | A | 1 | a0001c0002t0001g0122 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.384+3319C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196475860 | ||||||
| chr1:196476109
|
A | G | 13 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(10): Show | 13 | HG01109.hp2 HG02258.hp1 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.384+3070T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196476109 | ||||||
| chr1:196476200
|
A | G | 8 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(5): Show | 8 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.384+2979T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196476200 | ||||||
| chr1:196476493
|
C | T | 1 | a0001c0001t0010g0097 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.384+2686G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196476493 | ||||||
| chr1:196476623
|
G | A | 10 | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0001t0002g0113others(7): Show | 10 | HG02258.hp2 HG02647.hp1 HG03225.hp2 others(7): Show |
intron_variant | MODIFIER | c.384+2556C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196476623 | ||||||
| chr1:196477103
|
T | C | 1 | a0001c0001t0001g0013 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.384+2076A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196477103 | ||||||
| chr1:196477273
|
T | C | 2 | a0001c0001t0001g0039a0001c0001t0003g0035 | 2 | HG02451.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.384+1906A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196477273 | ||||||
| chr1:196477293
|
A | C | 8 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(5): Show | 8 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.384+1886T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196477293 | ||||||
| chr1:196477349
|
G | A | 6 | a0001c0001t0001g0088a0001c0001t0001g0102a0001c0001t0001g0105others(3): Show | 6 | HG02145.hp2 HG02723.hp2 HG06807.hp2 others(3): Show |
intron_variant | MODIFIER | c.384+1830C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196477349 | ||||||
| chr1:196477421
|
A | G | 2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.384+1758T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196477421 | ||||||
| chr1:196477432
|
C | A | 8 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(5): Show | 8 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.384+1747G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196477432 | ||||||
| chr1:196477595
|
CA | C | 9 | a0001c0001t0001g0075a0001c0001t0001g0127a0001c0001t0001g0128others(6): Show | 9 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(6): Show |
intron_variant | MODIFIER | c.384+1583delT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196477595 | ||||||
| chr1:196477632
|
T | C | 1 | a0001c0003t0008g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.384+1547A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196477632 | ||||||
| chr1:196477715
|
A | G | 8 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(5): Show | 8 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.384+1464T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196477715 | ||||||
| chr1:196477771
|
A | G | 3 | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0001t0009g0038 | 3 | HG03225.hp2 HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.384+1408T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196477771 | ||||||
| chr1:196479121
|
T | C | 1 | a0001c0001t0001g0023 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.384+58A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 5/27 | chr1 | 196479121 | ||||||
| chr1:196479289
|
A | G | 1 | a0001c0001t0001g0019 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.325-51T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 4/27 | chr1 | 196479289 | ||||||
| chr1:196479322
|
A | G | 1 | a0001c0001t0001g0073 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.325-84T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 4/27 | chr1 | 196479322 | ||||||
| chr1:196479371
|
C | T | 2 | a0001c0001t0001g0036a0001c0001t0001g0037 | 2 | HG02109.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.325-133G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 4/27 | chr1 | 196479371 | ||||||
| chr1:196479496
|
TGTA | T | 37 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(34): Show | 37 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(34): Show |
intron_variant | MODIFIER | c.325-261_325-259del others(3): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 4/27 | chr1 | 196479496 | ||||||
| chr1:196479501
|
AGGTGG | A | 37 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(34): Show | 37 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(34): Show |
intron_variant | MODIFIER | c.325-268_325-264del others(5): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 4/27 | chr1 | 196479501 | ||||||
| chr1:196479563
|
G | T | 8 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(5): Show | 8 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.325-325C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 4/27 | chr1 | 196479563 | ||||||
| chr1:196479633
|
G | GC | 7 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(4): Show | 7 | HG02622.hp2 HG02723.hp1 HG02965.hp1 others(4): Show |
intron_variant | MODIFIER | c.325-396dupG | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 4/27 | chr1 | 196479633 | ||||||
| chr1:196479637
|
C | T | 2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.325-399G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 4/27 | chr1 | 196479637 | ||||||
| chr1:196479729
|
T | C | 8 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(5): Show | 8 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.325-491A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 4/27 | chr1 | 196479729 | ||||||
| chr1:196479746
|
G | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.325-508C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 4/27 | chr1 | 196479746 | ||||||
| chr1:196480009
|
G | T | 1 | a0001c0001t0001g0023 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.325-771C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 4/27 | chr1 | 196480009 | ||||||
| chr1:196480032
|
C | G | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.325-794G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 4/27 | chr1 | 196480032 | ||||||
| chr1:196480076
|
G | C | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.325-838C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 4/27 | chr1 | 196480076 | ||||||
| chr1:196480131
|
T | C | 3 | a0001c0005t0001g0014a0001c0005t0001g0015a0001c0005t0001g0016 | 3 | HG02257.hp1 HG02630.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.325-893A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 4/27 | chr1 | 196480131 | ||||||
| chr1:196480210
|
T | A | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.325-972A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 4/27 | chr1 | 196480210 | ||||||
| chr1:196480258
|
C | T | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.325-1020G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 4/27 | chr1 | 196480258 | ||||||
| chr1:196480379
|
T | C | 1 | a0001c0002t0001g0122 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.325-1141A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 4/27 | chr1 | 196480379 | ||||||
| chr1:196480388
|
A | C | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.325-1150T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 4/27 | chr1 | 196480388 | ||||||
| chr1:196480651
|
C | G | 8 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(5): Show | 8 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.325-1413G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 4/27 | chr1 | 196480651 | ||||||
| chr1:196480713
|
G | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.325-1475C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 4/27 | chr1 | 196480713 | ||||||
| chr1:196480728
|
C | A | 8 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(5): Show | 8 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.325-1490G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 4/27 | chr1 | 196480728 | ||||||
| chr1:196480753
|
G | A | 1 | a0001c0001t0001g0130 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.325-1515C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 4/27 | chr1 | 196480753 | ||||||
| chr1:196480772
|
CG | C | 5 | a0001c0002t0001g0121a0001c0002t0001g0123a0001c0002t0001g0124others(2): Show | 5 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.325-1535delC | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 4/27 | chr1 | 196480772 | ||||||
| chr1:196480855
|
C | CA | 39 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0008others(36): Show | 39 | HG00140.hp1 HG00140.hp2 HG00639.hp2 others(36): Show |
intron_variant | MODIFIER | c.324+1475dupT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 4/27 | chr1 | 196480855 | ||||||
| chr1:196480855
|
C | CAA | 9 | a0001c0001t0001g0025a0001c0001t0001g0043a0001c0001t0001g0053others(6): Show | 9 | HG00735.hp1 HG00735.hp2 HG01106.hp1 others(6): Show |
intron_variant | MODIFIER | c.324+1474_324+1475d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 4/27 | chr1 | 196480855 | ||||||
| chr1:196480855
|
CA | C | 26 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(23): Show | 26 | HG01109.hp2 HG01168.hp2 HG02109.hp1 others(23): Show |
intron_variant | MODIFIER | c.324+1475delT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 4/27 | chr1 | 196480855 | ||||||
| chr1:196480855
|
CAA | C | 7 | a0001c0001t0001g0090a0001c0001t0001g0128a0001c0001t0001g0131others(4): Show | 7 | HG02258.hp1 HG02280.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.324+1474_324+1475d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 4/27 | chr1 | 196480855 | ||||||
| chr1:196480855
|
CAAA | C | 6 | a0001c0001t0001g0130a0001c0001t0002g0114a0001c0001t0002g0117others(3): Show | 6 | HG02165.hp2 HG03209.hp1 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.324+1473_324+1475d others(5): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 4/27 | chr1 | 196480855 | ||||||
| chr1:196480907
|
A | C | 10 | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0001t0002g0113others(7): Show | 10 | HG02258.hp2 HG02647.hp1 HG03225.hp2 others(7): Show |
intron_variant | MODIFIER | c.324+1424T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 4/27 | chr1 | 196480907 | ||||||
| chr1:196480910
|
T | C | 8 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(5): Show | 8 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.324+1421A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 4/27 | chr1 | 196480910 | ||||||
| chr1:196480966
|
G | A | 11 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(8): Show | 11 | HG01109.hp2 HG02572.hp1 HG02717.hp1 others(8): Show |
intron_variant | MODIFIER | c.324+1365C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 4/27 | chr1 | 196480966 | ||||||
| chr1:196481216
|
T | C | 8 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(5): Show | 8 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.324+1115A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 4/27 | chr1 | 196481216 | ||||||
| chr1:196481308
|
G | A | 7 | a0001c0001t0002g0113a0001c0001t0002g0114a0001c0001t0002g0115others(4): Show | 7 | HG02258.hp2 HG02647.hp1 HG03669.hp1 others(4): Show |
intron_variant | MODIFIER | c.324+1023C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 4/27 | chr1 | 196481308 | ||||||
| chr1:196481629
|
A | G | 1 | a0001c0001t0001g0101 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.324+702T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 4/27 | chr1 | 196481629 | ||||||
| chr1:196481691
|
G | T | 13 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(10): Show | 13 | HG01109.hp2 HG02258.hp1 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.324+640C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 4/27 | chr1 | 196481691 | ||||||
| chr1:196481974
|
A | T | 1 | a0001c0002t0001g0122 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.324+357T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 4/27 | chr1 | 196481974 | ||||||
| chr1:196482186
|
T | C | 1 | a0001c0001t0001g0090 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.324+145A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 4/27 | chr1 | 196482186 | ||||||
| chr1:196482398
|
TAA | T | 13 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(10): Show | 13 | HG01109.hp2 HG02258.hp1 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.276-21_276-20delTT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196482398 | ||||||
| chr1:196482858
|
A | G | 99 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(96): Show | 99 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(96): Show |
intron_variant | MODIFIER | c.276-479T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196482858 | ||||||
| chr1:196482994
|
T | G | 1 | a0001c0001t0002g0114 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.276-615A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196482994 | ||||||
| chr1:196483038
|
A | G | 1 | a0001c0001t0001g0060 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.276-659T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196483038 | ||||||
| chr1:196483202
|
A | T | 7 | a0001c0001t0002g0113a0001c0001t0002g0114a0001c0001t0002g0115others(4): Show | 7 | HG02258.hp2 HG02647.hp1 HG03669.hp1 others(4): Show |
intron_variant | MODIFIER | c.276-823T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196483202 | ||||||
| chr1:196483337
|
T | C | 1 | a0002c0008t0001g0020 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.276-958A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196483337 | ||||||
| chr1:196483478
|
A | G | 1 | a0001c0001t0002g0118 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.276-1099T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196483478 | ||||||
| chr1:196483548
|
G | C | 7 | a0001c0001t0002g0113a0001c0001t0002g0114a0001c0001t0002g0115others(4): Show | 7 | HG02258.hp2 HG02647.hp1 HG03669.hp1 others(4): Show |
intron_variant | MODIFIER | c.276-1169C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196483548 | ||||||
| chr1:196483702
|
G | A | 1 | a0001c0001t0001g0042 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.276-1323C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196483702 | ||||||
| chr1:196484053
|
A | C | 1 | a0001c0003t0008g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.276-1674T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196484053 | ||||||
| chr1:196484393
|
T | C | 1 | a0001c0001t0001g0070 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.276-2014A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196484393 | ||||||
| chr1:196484522
|
T | C | 2 | a0001c0002t0001g0123a0001c0002t0001g0125 | 2 | HG02622.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.276-2143A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196484522 | ||||||
| chr1:196484685
|
C | G | 1 | a0001c0001t0001g0036 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.276-2306G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196484685 | ||||||
| chr1:196484706
|
G | A | 1 | a0001c0001t0001g0037 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.276-2327C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196484706 | ||||||
| chr1:196484841
|
T | C | 1 | a0002c0008t0001g0020 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.276-2462A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196484841 | ||||||
| chr1:196485204
|
C | A | 1 | a0001c0001t0005g0106 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.276-2825G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196485204 | ||||||
| chr1:196485302
|
G | C | 1 | a0001c0004t0004g0133 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.276-2923C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196485302 | ||||||
| chr1:196485311
|
G | A | 3 | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0001t0009g0038 | 3 | HG03225.hp2 HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.276-2932C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196485311 | ||||||
| chr1:196485368
|
A | C | 1 | a0001c0001t0002g0117 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.276-2989T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196485368 | ||||||
| chr1:196485498
|
G | A | 40 | a0001c0001t0001g0018a0001c0001t0001g0041a0001c0001t0001g0042others(37): Show | 40 | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(37): Show |
intron_variant | MODIFIER | c.276-3119C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196485498 | ||||||
| chr1:196485527
|
T | G | 1 | a0001c0001t0001g0063 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.276-3148A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196485527 | ||||||
| chr1:196486060
|
G | A | 3 | a0001c0001t0001g0027a0001c0001t0002g0028a0001c0001t0002g0029 | 3 | NA18984.hp1 NA19009.hp2 NA19062.hp2 |
intron_variant | MODIFIER | c.276-3681C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196486060 | ||||||
| chr1:196486158
|
G | A | 1 | a0001c0001t0001g0003 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.275+3680C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196486158 | ||||||
| chr1:196486235
|
C | G | 96 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(93): Show | 96 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(93): Show |
intron_variant | MODIFIER | c.275+3603G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196486235 | ||||||
| chr1:196486448
|
G | T | 1 | a0001c0001t0001g0059 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.275+3390C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196486448 | ||||||
| chr1:196486514
|
T | C | 1 | a0001c0007t0001g0091 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.275+3324A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196486514 | ||||||
| chr1:196486566
|
G | A | 40 | a0001c0001t0001g0018a0001c0001t0001g0041a0001c0001t0001g0042others(37): Show | 40 | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(37): Show |
intron_variant | MODIFIER | c.275+3272C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196486566 | ||||||
| chr1:196486575
|
G | A | 2 | a0001c0001t0001g0036a0001c0001t0001g0037 | 2 | HG02109.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.275+3263C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196486575 | ||||||
| chr1:196486694
|
T | G | 85 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(82): Show | 85 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(82): Show |
intron_variant | MODIFIER | c.275+3144A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196486694 | ||||||
| chr1:196486711
|
T | TA | 8 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(5): Show | 8 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.275+3126dupT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196486711 | ||||||
| chr1:196486711
|
TA | T | 122 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(119): Show | 122 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(119): Show |
intron_variant | MODIFIER | c.275+3126delT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196486711 | ||||||
| chr1:196486978
|
C | T | 1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.275+2860G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196486978 | ||||||
| chr1:196487368
|
A | T | 8 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(5): Show | 8 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.275+2470T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196487368 | ||||||
| chr1:196487409
|
A | AGT | 4 | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0002t0001g0122others(1): Show | 4 | HG03209.hp1 HG03486.hp1 NA18522.hp2 others(1): Show |
intron_variant | MODIFIER | c.275+2427_275+2428d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196487409 | ||||||
| chr1:196487409
|
A | AGTGT | 3 | a0001c0001t0001g0063a0001c0003t0008g0081a0001c0005t0001g0015 | 3 | HG00741.hp2 HG01891.hp1 HG02630.hp1 |
intron_variant | MODIFIER | c.275+2425_275+2428d others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196487409 | ||||||
| chr1:196487409
|
A | AGTGTGT | 40 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(37): Show | 40 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(37): Show |
intron_variant | MODIFIER | c.275+2423_275+2428d others(8): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196487409 | ||||||
| chr1:196487409
|
A | AGTGTGTG others(1): Show |
9 | a0001c0001t0001g0013a0001c0001t0001g0036a0001c0001t0001g0037others(6): Show | 9 | HG00140.hp1 HG00639.hp1 HG00735.hp1 others(6): Show |
intron_variant | MODIFIER | c.275+2421_275+2428d others(10): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196487409 | ||||||
| chr1:196487409
|
A | AGTGTGTG others(3): Show |
6 | a0001c0001t0001g0043a0001c0001t0001g0046a0001c0001t0001g0068others(3): Show | 6 | HG01106.hp1 HG01358.hp1 HG02293.hp2 others(3): Show |
intron_variant | MODIFIER | c.275+2419_275+2428d others(12): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196487409 | ||||||
| chr1:196487409
|
A | AGTGTGTG others(5): Show |
6 | a0001c0001t0001g0047a0001c0001t0001g0056a0001c0001t0001g0070others(3): Show | 6 | HG01261.hp1 HG01346.hp2 HG02630.hp2 others(3): Show |
intron_variant | MODIFIER | c.275+2417_275+2428d others(14): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196487409 | ||||||
| chr1:196487409
|
A | AGTGTGTG others(7): Show |
19 | a0001c0001t0001g0018a0001c0001t0001g0042a0001c0001t0001g0044others(16): Show | 19 | HG00673.hp1 HG01109.hp1 HG01168.hp2 others(16): Show |
intron_variant | MODIFIER | c.275+2415_275+2428d others(16): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196487409 | ||||||
| chr1:196487409
|
A | AGTGTGTG others(9): Show |
3 | a0001c0001t0001g0041a0001c0001t0001g0062a0001c0001t0001g0069 | 3 | HG00323.hp2 HG03669.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.275+2413_275+2428d others(18): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196487409 | ||||||
| chr1:196487409
|
AGT | A | 16 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(13): Show | 16 | HG02258.hp2 HG02622.hp2 HG02647.hp1 others(13): Show |
intron_variant | MODIFIER | c.275+2427_275+2428d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196487409 | ||||||
| chr1:196487436
|
A | G | 1 | a0001c0001t0001g0102 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.275+2402T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196487436 | ||||||
| chr1:196487448
|
G | A | 1 | a0001c0001t0001g0045 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.275+2390C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196487448 | ||||||
| chr1:196487692
|
G | A | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.275+2146C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196487692 | ||||||
| chr1:196487966
|
T | C | 7 | a0001c0001t0002g0113a0001c0001t0002g0114a0001c0001t0002g0115others(4): Show | 7 | HG02258.hp2 HG02647.hp1 HG03669.hp1 others(4): Show |
intron_variant | MODIFIER | c.275+1872A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196487966 | ||||||
| chr1:196488185
|
G | T | 3 | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0001t0009g0038 | 3 | HG03225.hp2 HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.275+1653C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196488185 | ||||||
| chr1:196488245
|
C | A | 40 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(37): Show | 40 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(37): Show |
intron_variant | MODIFIER | c.275+1593G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196488245 | ||||||
| chr1:196488471
|
TTTGTTCC others(2): Show |
T | 17 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(14): Show | 17 | HG02258.hp2 HG02622.hp2 HG02647.hp1 others(14): Show |
intron_variant | MODIFIER | c.275+1358_275+1366d others(11): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196488471 | ||||||
| chr1:196488567
|
T | G | 1 | a0001c0001t0001g0023 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.275+1271A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196488567 | ||||||
| chr1:196488621
|
A | T | 2 | a0001c0001t0002g0048a0001c0001t0002g0076 | 2 | HG02809.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.275+1217T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196488621 | ||||||
| chr1:196489154
|
C | T | 1 | a0001c0001t0001g0080 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.275+684G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196489154 | ||||||
| chr1:196489308
|
A | T | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.275+530T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196489308 | ||||||
| chr1:196489375
|
C | A | 115 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(112): Show | 115 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(112): Show |
intron_variant | MODIFIER | c.275+463G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196489375 | ||||||
| chr1:196489556
|
C | T | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.275+282G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196489556 | ||||||
| chr1:196489738
|
T | C | 7 | a0001c0001t0002g0113a0001c0001t0002g0114a0001c0001t0002g0115others(4): Show | 7 | HG02258.hp2 HG02647.hp1 HG03669.hp1 others(4): Show |
intron_variant | MODIFIER | c.275+100A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 3/27 | chr1 | 196489738 | ||||||
| chr1:196490742
|
T | C | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.176-805A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 2/27 | chr1 | 196490742 | ||||||
| chr1:196490817
|
TG | T | 8 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(5): Show | 8 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.176-881delC | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 2/27 | chr1 | 196490817 | ||||||
| chr1:196490918
|
G | C | 2 | a0001c0001t0001g0022a0001c0001t0001g0024 | 2 | NA18988.hp2 NA18990.hp1 |
intron_variant | MODIFIER | c.176-981C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 2/27 | chr1 | 196490918 | ||||||
| chr1:196491066
|
T | C | 1 | a0001c0001t0005g0100 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.176-1129A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 2/27 | chr1 | 196491066 | ||||||
| chr1:196491183
|
G | T | 1 | a0001c0001t0011g0066 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.175+1079C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 2/27 | chr1 | 196491183 | ||||||
| chr1:196491236
|
A | G | 1 | a0001c0001t0005g0106 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.175+1026T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 2/27 | chr1 | 196491236 | ||||||
| chr1:196492348
|
A | G | 1 | a0001c0001t0001g0130 | 1 | HG03486.hp1 | splice_region_variant&intron_variant | LOW | c.96-7T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196492348 | ||||||
| chr1:196492383
|
C | T | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.96-42G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196492383 | ||||||
| chr1:196492984
|
A | T | 3 | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0001t0009g0038 | 3 | HG03225.hp2 HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.96-643T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196492984 | ||||||
| chr1:196493120
|
G | A | 2 | a0001c0005t0001g0014a0001c0005t0001g0016 | 2 | HG02257.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.96-779C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196493120 | ||||||
| chr1:196493237
|
T | C | 8 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(5): Show | 8 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.96-896A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196493237 | ||||||
| chr1:196493331
|
T | C | 1 | a0001c0001t0011g0066 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.96-990A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196493331 | ||||||
| chr1:196493337
|
G | C | 1 | a0001c0001t0001g0012 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.96-996C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196493337 | ||||||
| chr1:196493402
|
A | T | 3 | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0001t0009g0038 | 3 | HG03225.hp2 HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.96-1061T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196493402 | ||||||
| chr1:196493426
|
T | G | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.96-1085A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196493426 | ||||||
| chr1:196493527
|
T | C | 3 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0085 | 3 | HG02622.hp2 HG02965.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.96-1186A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196493527 | ||||||
| chr1:196493540
|
G | C | 1 | a0001c0001t0001g0041 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.96-1199C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196493540 | ||||||
| chr1:196493558
|
T | A | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.96-1217A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196493558 | ||||||
| chr1:196493866
|
CTTTG | C | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.96-1529_96-1526del others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196493866 | ||||||
| chr1:196493937
|
C | A | 40 | a0001c0001t0001g0018a0001c0001t0001g0041a0001c0001t0001g0042others(37): Show | 40 | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(37): Show |
intron_variant | MODIFIER | c.96-1596G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196493937 | ||||||
| chr1:196493954
|
G | T | 9 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(6): Show | 9 | HG02622.hp2 HG02723.hp1 HG02818.hp1 others(6): Show |
intron_variant | MODIFIER | c.96-1613C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196493954 | ||||||
| chr1:196493986
|
C | T | 8 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(5): Show | 8 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.96-1645G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196493986 | ||||||
| chr1:196494053
|
C | T | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.96-1712G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196494053 | ||||||
| chr1:196494188
|
T | C | 8 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(5): Show | 8 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.96-1847A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196494188 | ||||||
| chr1:196494253
|
A | G | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.96-1912T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196494253 | ||||||
| chr1:196494459
|
G | A | 4 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0095others(1): Show | 4 | HG01109.hp2 HG02818.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.96-2118C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196494459 | ||||||
| chr1:196494473
|
C | T | 1 | a0001c0001t0001g0087 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.96-2132G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196494473 | ||||||
| chr1:196494540
|
A | G | 1 | a0001c0001t0001g0010 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.96-2199T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196494540 | ||||||
| chr1:196494558
|
C | A | 8 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(5): Show | 8 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.96-2217G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196494558 | ||||||
| chr1:196494604
|
A | G | 6 | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0001t0009g0038others(3): Show | 6 | HG00323.hp1 HG01081.hp2 HG02165.hp2 others(3): Show |
intron_variant | MODIFIER | c.96-2263T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196494604 | ||||||
| chr1:196494732
|
C | T | 2 | a0001c0001t0001g0036a0001c0001t0001g0037 | 2 | HG02109.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.96-2391G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196494732 | ||||||
| chr1:196494962
|
C | T | 9 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(6): Show | 9 | HG02622.hp2 HG02723.hp1 HG02818.hp1 others(6): Show |
intron_variant | MODIFIER | c.96-2621G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196494962 | ||||||
| chr1:196494983
|
T | C | 46 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(43): Show | 46 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(43): Show |
intron_variant | MODIFIER | c.96-2642A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196494983 | ||||||
| chr1:196495231
|
TTAGGCTT others(15): Show |
T | 1 | a0001c0001t0002g0076 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.96-2912_96-2891del others(22): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196495231 | ||||||
| chr1:196495297
|
T | C | 1 | a0001c0001t0001g0088 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.96-2956A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196495297 | ||||||
| chr1:196495300
|
T | C | 122 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(119): Show | 122 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(119): Show |
intron_variant | MODIFIER | c.96-2959A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196495300 | ||||||
| chr1:196495348
|
A | G | 8 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(5): Show | 8 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.96-3007T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196495348 | ||||||
| chr1:196495624
|
T | C | 46 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(43): Show | 46 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(43): Show |
intron_variant | MODIFIER | c.96-3283A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196495624 | ||||||
| chr1:196495801
|
T | G | 1 | a0001c0001t0001g0087 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.96-3460A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196495801 | ||||||
| chr1:196496167
|
C | T | 8 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(5): Show | 8 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.96-3826G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196496167 | ||||||
| chr1:196496197
|
C | T | 1 | a0001c0001t0009g0038 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.96-3856G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196496197 | ||||||
| chr1:196496266
|
G | A | 2 | a0001c0001t0001g0011a0001c0001t0001g0012 | 2 | HG02717.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.96-3925C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196496266 | ||||||
| chr1:196496297
|
A | G | 132 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(129): Show | 132 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(129): Show |
intron_variant | MODIFIER | c.96-3956T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196496297 | ||||||
| chr1:196496332
|
G | A | 13 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(10): Show | 13 | HG01109.hp2 HG02258.hp1 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.96-3991C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196496332 | ||||||
| chr1:196496385
|
G | A | 2 | a0001c0001t0001g0090a0001c0007t0001g0091 | 2 | HG02258.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.96-4044C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196496385 | ||||||
| chr1:196496448
|
A | G | 1 | a0001c0001t0001g0036 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.96-4107T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196496448 | ||||||
| chr1:196496540
|
T | A | 1 | a0001c0001t0001g0080 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.96-4199A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196496540 | ||||||
| chr1:196496593
|
T | C | 40 | a0001c0001t0001g0018a0001c0001t0001g0041a0001c0001t0001g0042others(37): Show | 40 | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(37): Show |
intron_variant | MODIFIER | c.96-4252A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196496593 | ||||||
| chr1:196496840
|
C | T | 2 | a0001c0001t0001g0090a0001c0007t0001g0091 | 2 | HG02258.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.96-4499G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196496840 | ||||||
| chr1:196496965
|
A | G | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.96-4624T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196496965 | ||||||
| chr1:196497001
|
G | T | 2 | a0001c0001t0001g0095a0001c0001t0001g0096 | 2 | HG01109.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.96-4660C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196497001 | ||||||
| chr1:196497256
|
G | A | 1 | a0001c0001t0001g0059 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.96-4915C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196497256 | ||||||
| chr1:196497384
|
G | T | 103 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(100): Show | 103 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(100): Show |
intron_variant | MODIFIER | c.96-5043C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196497384 | ||||||
| chr1:196497398
|
T | C | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.96-5057A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196497398 | ||||||
| chr1:196497712
|
G | A | 1 | a0001c0001t0001g0046 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.96-5371C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196497712 | ||||||
| chr1:196497741
|
C | T | 3 | a0001c0001t0002g0049a0001c0001t0002g0050a0001c0001t0002g0051 | 3 | HG00639.hp1 HG01074.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.96-5400G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196497741 | ||||||
| chr1:196498118
|
G | A | 46 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(43): Show | 46 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(43): Show |
intron_variant | MODIFIER | c.96-5777C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196498118 | ||||||
| chr1:196498221
|
A | G | 1 | a0001c0001t0001g0036 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.96-5880T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196498221 | ||||||
| chr1:196498246
|
G | A | 40 | a0001c0001t0001g0018a0001c0001t0001g0041a0001c0001t0001g0042others(37): Show | 40 | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(37): Show |
intron_variant | MODIFIER | c.96-5905C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196498246 | ||||||
| chr1:196498275
|
C | T | 122 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(119): Show | 122 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(119): Show |
intron_variant | MODIFIER | c.96-5934G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196498275 | ||||||
| chr1:196498323
|
T | C | 2 | a0001c0001t0001g0090a0001c0007t0001g0091 | 2 | HG02258.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.96-5982A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196498323 | ||||||
| chr1:196498511
|
G | A | 86 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(83): Show | 86 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(83): Show |
intron_variant | MODIFIER | c.96-6170C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196498511 | ||||||
| chr1:196498553
|
T | G | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.96-6212A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196498553 | ||||||
| chr1:196498875
|
A | G | 1 | a0001c0001t0001g0018 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.96-6534T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196498875 | ||||||
| chr1:196498915
|
T | C | 1 | a0001c0004t0004g0133 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.96-6574A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196498915 | ||||||
| chr1:196498928
|
G | T | 1 | a0001c0003t0008g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.96-6587C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196498928 | ||||||
| chr1:196498954
|
T | C | 1 | a0001c0002t0001g0122 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.96-6613A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196498954 | ||||||
| chr1:196499018
|
A | C | 1 | a0001c0007t0001g0091 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.96-6677T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196499018 | ||||||
| chr1:196499109
|
T | C | 86 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(83): Show | 86 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(83): Show |
intron_variant | MODIFIER | c.96-6768A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196499109 | ||||||
| chr1:196499123
|
C | G | 3 | a0001c0001t0002g0049a0001c0001t0002g0050a0001c0001t0002g0051 | 3 | HG00639.hp1 HG01074.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.96-6782G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196499123 | ||||||
| chr1:196499280
|
A | G | 1 | a0001c0001t0009g0038 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.96-6939T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196499280 | ||||||
| chr1:196499373
|
A | C | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.96-7032T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196499373 | ||||||
| chr1:196499408
|
T | C | 8 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(5): Show | 8 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.96-7067A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196499408 | ||||||
| chr1:196499681
|
A | G | 122 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(119): Show | 122 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(119): Show |
intron_variant | MODIFIER | c.96-7340T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196499681 | ||||||
| chr1:196499733
|
T | C | 1 | a0001c0006t0001g0061 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.96-7392A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196499733 | ||||||
| chr1:196500067
|
T | A | 1 | a0001c0001t0002g0028 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.96-7726A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196500067 | ||||||
| chr1:196500206
|
GAGAGAGA others(4): Show |
G | 1 | a0001c0001t0002g0113 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.96-7876_96-7866del others(11): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196500206 | ||||||
| chr1:196500211
|
AGAGAGAG others(7): Show |
A | 16 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(13): Show | 16 | HG02258.hp2 HG02622.hp2 HG02647.hp1 others(13): Show |
intron_variant | MODIFIER | c.96-7884_96-7871del others(14): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196500211 | ||||||
| chr1:196500224
|
C | T | 1 | a0001c0001t0001g0046 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.96-7883G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196500224 | ||||||
| chr1:196500234
|
G | A | 3 | a0001c0001t0001g0064a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG01168.hp2 |
intron_variant | MODIFIER | c.96-7893C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196500234 | ||||||
| chr1:196500253
|
A | AAAGG | 4 | a0001c0002t0001g0124a0001c0002t0001g0126a0001c0004t0004g0132others(1): Show | 4 | HG00323.hp1 HG01081.hp2 HG02109.hp1 others(1): Show |
intron_variant | MODIFIER | c.96-7916_96-7913dup others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196500253 | ||||||
| chr1:196500253
|
A | AAAGGAAG others(1): Show |
7 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(4): Show | 7 | HG02145.hp1 HG02165.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.96-7920_96-7913dup others(8): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196500253 | ||||||
| chr1:196500274
|
AAGGAAGG others(5): Show |
A | 6 | a0001c0001t0001g0047a0001c0001t0001g0056a0001c0001t0001g0071others(3): Show | 6 | HG00639.hp1 HG01261.hp1 HG01346.hp2 others(3): Show |
intron_variant | MODIFIER | c.96-7945_96-7934del others(12): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196500274 | ||||||
| chr1:196500274
|
AAGGAAGG others(9): Show |
A | 34 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(31): Show | 34 | HG00140.hp1 HG00323.hp2 HG00673.hp1 others(31): Show |
intron_variant | MODIFIER | c.96-7949_96-7934del others(16): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196500274 | ||||||
| chr1:196500274
|
AAGGAAGG others(13): Show |
A | 1 | a0001c0001t0001g0075 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.96-7953_96-7934del others(20): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196500274 | ||||||
| chr1:196500274
|
AAGGAAGG others(17): Show |
A | 2 | a0001c0001t0002g0048a0001c0001t0002g0076 | 2 | HG02809.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.96-7957_96-7934del others(24): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196500274 | ||||||
| chr1:196500274
|
AAGGAAGG others(25): Show |
A | 1 | a0001c0006t0001g0061 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.96-7965_96-7934del others(32): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196500274 | ||||||
| chr1:196500278
|
A | AAGGG | 3 | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0003t0001g0109 | 3 | HG02280.hp2 HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.96-7941_96-7938dup others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196500278 | ||||||
| chr1:196500278
|
AAGGG | A | 8 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0093others(5): Show | 8 | HG01109.hp2 HG01891.hp1 HG02280.hp1 others(5): Show |
intron_variant | MODIFIER | c.96-7941_96-7938del others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196500278 | ||||||
| chr1:196500278
|
AAGGGAGG others(1): Show |
A | 4 | a0001c0001t0001g0012a0001c0001t0001g0092a0001c0001t0003g0104others(1): Show | 4 | HG02145.hp2 HG02717.hp1 HG02897.hp2 others(1): Show |
intron_variant | MODIFIER | c.96-7945_96-7938del others(8): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196500278 | ||||||
| chr1:196500278
|
AAGGGAGG others(5): Show |
A | 50 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0013others(47): Show | 50 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(47): Show |
intron_variant | MODIFIER | c.96-7949_96-7938del others(12): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196500278 | ||||||
| chr1:196500278
|
AAGGGAGG others(9): Show |
A | 7 | a0001c0001t0001g0039a0001c0001t0003g0035a0001c0001t0003g0103others(4): Show | 7 | HG02257.hp1 HG02451.hp1 HG02630.hp1 others(4): Show |
intron_variant | MODIFIER | c.96-7953_96-7938del others(16): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196500278 | ||||||
| chr1:196500278
|
AAGGGAGG others(13): Show |
A | 1 | a0001c0001t0001g0090 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.96-7957_96-7938del others(20): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196500278 | ||||||
| chr1:196500282
|
G | A | 5 | a0001c0001t0001g0098a0001c0001t0001g0099a0001c0001t0010g0097others(2): Show | 5 | HG02109.hp1 HG02572.hp1 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.96-7941C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196500282 | ||||||
| chr1:196500286
|
G | A | 8 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0093others(5): Show | 8 | HG01109.hp2 HG02280.hp1 HG02572.hp1 others(5): Show |
intron_variant | MODIFIER | c.96-7945C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196500286 | ||||||
| chr1:196500288
|
GGGAGGGA others(4): Show |
G | 1 | a0001c0001t0002g0028 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.96-7958_96-7948del others(11): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196500288 | ||||||
| chr1:196500290
|
G | A | 1 | a0001c0001t0001g0092 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.96-7949C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196500290 | ||||||
| chr1:196500296
|
G | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.96-7955C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196500296 | ||||||
| chr1:196500302
|
G | A | 1 | a0001c0001t0001g0090 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.96-7961C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196500302 | ||||||
| chr1:196500302
|
G | T | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.96-7961C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196500302 | ||||||
| chr1:196500316
|
G | A | 3 | a0001c0001t0001g0043a0001c0001t0001g0054a0001c0001t0001g0070 | 3 | HG01106.hp1 HG01496.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.96-7975C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196500316 | ||||||
| chr1:196500320
|
G | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.96-7979C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196500320 | ||||||
| chr1:196500354
|
A | G | 1 | a0001c0007t0001g0091 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.96-8013T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196500354 | ||||||
| chr1:196500558
|
T | C | 2 | a0001c0001t0001g0090a0001c0007t0001g0091 | 2 | HG02258.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.96-8217A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196500558 | ||||||
| chr1:196500690
|
C | T | 5 | a0001c0001t0001g0044a0001c0001t0001g0053a0001c0001t0001g0065others(2): Show | 5 | HG01109.hp1 HG01175.hp2 HG01891.hp2 others(2): Show |
intron_variant | MODIFIER | c.96-8349G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196500690 | ||||||
| chr1:196500892
|
G | A | 1 | a0001c0001t0001g0037 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.96-8551C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196500892 | ||||||
| chr1:196500894
|
A | G | 3 | a0001c0001t0001g0039a0001c0001t0003g0035a0001c0001t0009g0038 | 3 | HG02451.hp1 HG03225.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.96-8553T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196500894 | ||||||
| chr1:196501015
|
C | T | 9 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(6): Show | 9 | HG02622.hp2 HG02723.hp1 HG02818.hp1 others(6): Show |
intron_variant | MODIFIER | c.96-8674G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196501015 | ||||||
| chr1:196501119
|
C | A | 8 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(5): Show | 8 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.96-8778G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196501119 | ||||||
| chr1:196501534
|
T | C | 5 | a0001c0001t0002g0048a0001c0001t0002g0049a0001c0001t0002g0050others(2): Show | 5 | HG00639.hp1 HG01074.hp1 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.96-9193A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196501534 | ||||||
| chr1:196501584
|
A | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.96-9243T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196501584 | ||||||
| chr1:196501906
|
C | G | 1 | a0001c0001t0001g0027 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.96-9565G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196501906 | ||||||
| chr1:196502128
|
A | T | 46 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(43): Show | 46 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(43): Show |
intron_variant | MODIFIER | c.96-9787T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196502128 | ||||||
| chr1:196502322
|
A | G | 1 | a0001c0001t0001g0036 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.96-9981T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196502322 | ||||||
| chr1:196502400
|
T | A | 2 | a0001c0002t0001g0124a0001c0002t0001g0126 | 2 | HG02109.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.96-10059A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196502400 | ||||||
| chr1:196502899
|
A | T | 1 | a0001c0002t0001g0121 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.96-10558T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196502899 | ||||||
| chr1:196503133
|
T | C | 131 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(128): Show | 131 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(128): Show |
intron_variant | MODIFIER | c.96-10792A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196503133 | ||||||
| chr1:196503338
|
A | G | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.96-10997T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196503338 | ||||||
| chr1:196503422
|
C | T | 1 | a0001c0001t0001g0059 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.96-11081G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196503422 | ||||||
| chr1:196503632
|
T | C | 1 | a0001c0001t0001g0021 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.96-11291A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196503632 | ||||||
| chr1:196503855
|
T | G | 1 | a0001c0001t0001g0068 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.96-11514A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196503855 | ||||||
| chr1:196504117
|
G | A | 8 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(5): Show | 8 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.96-11776C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196504117 | ||||||
| chr1:196504147
|
A | G | 104 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(101): Show | 104 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(101): Show |
intron_variant | MODIFIER | c.96-11806T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196504147 | ||||||
| chr1:196504224
|
T | C | 1 | a0001c0001t0001g0068 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.96-11883A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196504224 | ||||||
| chr1:196504233
|
C | A | 7 | a0001c0001t0002g0113a0001c0001t0002g0114a0001c0001t0002g0115others(4): Show | 7 | HG02258.hp2 HG02647.hp1 HG03669.hp1 others(4): Show |
intron_variant | MODIFIER | c.96-11892G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196504233 | ||||||
| chr1:196504238
|
C | A | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.96-11897G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196504238 | ||||||
| chr1:196504240
|
C | A | 1 | a0001c0001t0001g0079 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.96-11899G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196504240 | ||||||
| chr1:196504243
|
T | G | 9 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(6): Show | 9 | HG02622.hp2 HG02723.hp1 HG02818.hp1 others(6): Show |
intron_variant | MODIFIER | c.96-11902A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196504243 | ||||||
| chr1:196504270
|
T | C | 13 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(10): Show | 13 | HG01109.hp2 HG02258.hp1 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.96-11929A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196504270 | ||||||
| chr1:196504677
|
T | A | 1 | a0001c0001t0001g0069 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.96-12336A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196504677 | ||||||
| chr1:196504766
|
C | T | 3 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129 | 3 | HG02647.hp2 HG02809.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.96-12425G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196504766 | ||||||
| chr1:196504861
|
T | C | 122 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(119): Show | 122 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(119): Show |
intron_variant | MODIFIER | c.96-12520A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196504861 | ||||||
| chr1:196504908
|
C | G | 122 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(119): Show | 122 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(119): Show |
intron_variant | MODIFIER | c.96-12567G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196504908 | ||||||
| chr1:196504965
|
T | C | 1 | a0001c0001t0002g0118 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.96-12624A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196504965 | ||||||
| chr1:196505050
|
T | C | 3 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129 | 3 | HG02647.hp2 HG02809.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.96-12709A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196505050 | ||||||
| chr1:196505051
|
G | GT | 17 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(14): Show | 17 | HG02258.hp2 HG02622.hp2 HG02647.hp1 others(14): Show |
intron_variant | MODIFIER | c.96-12711_96-12710i others(3): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196505051 | ||||||
| chr1:196505053
|
T | TGAAC | 17 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(14): Show | 17 | HG02258.hp2 HG02622.hp2 HG02647.hp1 others(14): Show |
intron_variant | MODIFIER | c.96-12713_96-12712i others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196505053 | ||||||
| chr1:196505139
|
G | T | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.96-12798C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196505139 | ||||||
| chr1:196505243
|
G | T | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.96-12902C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196505243 | ||||||
| chr1:196505311
|
A | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.96-12970T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196505311 | ||||||
| chr1:196505319
|
C | T | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.96-12978G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196505319 | ||||||
| chr1:196505494
|
G | T | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.96-13153C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196505494 | ||||||
| chr1:196505504
|
A | T | 3 | a0001c0001t0001g0039a0001c0001t0003g0035a0001c0001t0009g0038 | 3 | HG02451.hp1 HG03225.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.96-13163T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196505504 | ||||||
| chr1:196505515
|
T | C | 122 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(119): Show | 122 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(119): Show |
intron_variant | MODIFIER | c.96-13174A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196505515 | ||||||
| chr1:196505516
|
G | A | 122 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(119): Show | 122 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(119): Show |
intron_variant | MODIFIER | c.96-13175C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196505516 | ||||||
| chr1:196505564
|
C | T | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.96-13223G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196505564 | ||||||
| chr1:196505864
|
C | G | 13 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(10): Show | 13 | HG01109.hp2 HG02258.hp1 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.96-13523G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196505864 | ||||||
| chr1:196505905
|
A | G | 1 | a0001c0002t0001g0122 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.96-13564T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196505905 | ||||||
| chr1:196505980
|
T | C | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.96-13639A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196505980 | ||||||
| chr1:196505998
|
T | A | 1 | a0001c0001t0001g0046 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.96-13657A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196505998 | ||||||
| chr1:196506177
|
G | A | 5 | a0001c0001t0002g0048a0001c0001t0002g0049a0001c0001t0002g0050others(2): Show | 5 | HG00639.hp1 HG01074.hp1 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.96-13836C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196506177 | ||||||
| chr1:196506210
|
T | C | 1 | a0001c0001t0001g0074 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.96-13869A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196506210 | ||||||
| chr1:196506626
|
A | G | 17 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(14): Show | 17 | HG02258.hp2 HG02622.hp2 HG02647.hp1 others(14): Show |
intron_variant | MODIFIER | c.96-14285T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196506626 | ||||||
| chr1:196506699
|
C | G | 1 | a0001c0003t0008g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.96-14358G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196506699 | ||||||
| chr1:196506826
|
G | A | 1 | a0001c0001t0001g0065 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.96-14485C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196506826 | ||||||
| chr1:196506978
|
T | A | 1 | a0001c0001t0001g0064 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.96-14637A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196506978 | ||||||
| chr1:196507108
|
T | G | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.96-14767A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196507108 | ||||||
| chr1:196507253
|
A | T | 1 | a0001c0001t0001g0019 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.96-14912T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196507253 | ||||||
| chr1:196507884
|
A | T | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.96-15543T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196507884 | ||||||
| chr1:196508118
|
G | T | 2 | a0001c0001t0002g0115a0001c0001t0002g0116 | 2 | HG02258.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.96-15777C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196508118 | ||||||
| chr1:196508150
|
A | G | 2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.96-15809T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196508150 | ||||||
| chr1:196508189
|
C | CA | 6 | a0001c0001t0001g0096a0001c0001t0001g0098a0001c0001t0001g0099others(3): Show | 6 | HG01109.hp2 HG02572.hp1 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.96-15849dupT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196508189 | ||||||
| chr1:196508189
|
CA | C | 90 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(87): Show | 90 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(87): Show |
intron_variant | MODIFIER | c.96-15849delT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196508189 | ||||||
| chr1:196508189
|
CAA | C | 11 | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0039others(8): Show | 11 | HG00323.hp1 HG01168.hp2 HG02165.hp2 others(8): Show |
intron_variant | MODIFIER | c.96-15850_96-15849d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196508189 | ||||||
| chr1:196508274
|
C | T | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.96-15933G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196508274 | ||||||
| chr1:196508369
|
A | G | 104 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(101): Show | 104 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(101): Show |
intron_variant | MODIFIER | c.96-16028T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196508369 | ||||||
| chr1:196508544
|
T | G | 5 | a0001c0001t0001g0042a0001c0001t0001g0060a0001c0001t0001g0072others(2): Show | 5 | HG00673.hp1 NA18984.hp2 NA18988.hp1 others(2): Show |
intron_variant | MODIFIER | c.96-16203A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196508544 | ||||||
| chr1:196508594
|
A | T | 1 | a0001c0001t0001g0059 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.96-16253T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196508594 | ||||||
| chr1:196508802
|
T | C | 2 | a0001c0001t0001g0056a0001c0001t0001g0077 | 2 | HG02630.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.96-16461A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196508802 | ||||||
| chr1:196508803
|
G | A | 1 | a0001c0001t0001g0056 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.96-16462C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196508803 | ||||||
| chr1:196508991
|
G | A | 1 | a0001c0002t0001g0122 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.96-16650C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196508991 | ||||||
| chr1:196509243
|
G | A | 41 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(38): Show | 41 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(38): Show |
intron_variant | MODIFIER | c.96-16902C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196509243 | ||||||
| chr1:196509472
|
C | T | 13 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(10): Show | 13 | HG01109.hp2 HG02258.hp1 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.96-17131G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196509472 | ||||||
| chr1:196509663
|
T | C | 5 | a0001c0002t0001g0121a0001c0002t0001g0123a0001c0002t0001g0124others(2): Show | 5 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.96-17322A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196509663 | ||||||
| chr1:196509705
|
T | C | 1 | a0001c0001t0001g0045 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.96-17364A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196509705 | ||||||
| chr1:196509788
|
G | GACAATGA others(12): Show |
1 | a0001c0001t0001g0063 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.96-17466_96-17448d others(21): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196509788 | ||||||
| chr1:196510057
|
C | G | 122 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(119): Show | 122 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(119): Show |
intron_variant | MODIFIER | c.96-17716G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196510057 | ||||||
| chr1:196510133
|
G | T | 1 | a0001c0001t0001g0043 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.96-17792C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196510133 | ||||||
| chr1:196510200
|
G | A | 9 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(6): Show | 9 | HG02622.hp2 HG02723.hp1 HG02818.hp1 others(6): Show |
intron_variant | MODIFIER | c.96-17859C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196510200 | ||||||
| chr1:196510349
|
G | A | 1 | a0001c0001t0001g0101 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.96-18008C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196510349 | ||||||
| chr1:196510384
|
A | G | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.96-18043T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196510384 | ||||||
| chr1:196510441
|
T | C | 104 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(101): Show | 104 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(101): Show |
intron_variant | MODIFIER | c.96-18100A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196510441 | ||||||
| chr1:196510543
|
T | C | 104 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(101): Show | 104 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(101): Show |
intron_variant | MODIFIER | c.96-18202A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196510543 | ||||||
| chr1:196510676
|
C | T | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.96-18335G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196510676 | ||||||
| chr1:196510817
|
C | A | 1 | a0001c0001t0003g0035 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.96-18476G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196510817 | ||||||
| chr1:196510959
|
A | G | 13 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(10): Show | 13 | HG01109.hp2 HG02258.hp1 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.96-18618T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196510959 | ||||||
| chr1:196511001
|
A | G | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.96-18660T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196511001 | ||||||
| chr1:196511116
|
A | AAC | 21 | a0001c0001t0001g0083a0001c0001t0001g0085a0001c0001t0001g0087others(18): Show | 21 | HG01081.hp2 HG01175.hp1 HG01891.hp1 others(18): Show |
intron_variant | MODIFIER | c.96-18777_96-18776d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196511116 | ||||||
| chr1:196511116
|
A | AACAC | 8 | a0001c0001t0001g0017a0001c0001t0001g0019a0001c0001t0001g0021others(5): Show | 8 | HG00140.hp2 HG00323.hp1 HG00639.hp2 others(5): Show |
intron_variant | MODIFIER | c.96-18779_96-18776d others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196511116 | ||||||
| chr1:196511116
|
A | AACACACA others(3): Show |
1 | a0001c0001t0001g0101 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.96-18785_96-18776d others(12): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196511116 | ||||||
| chr1:196511116
|
AAC | A | 6 | a0001c0001t0001g0024a0001c0001t0001g0040a0001c0001t0001g0047others(3): Show | 6 | HG01346.hp2 HG02258.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.96-18777_96-18776d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196511116 | ||||||
| chr1:196511116
|
AACAC | A | 23 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0009others(20): Show | 23 | HG00140.hp1 HG00735.hp2 HG00741.hp1 others(20): Show |
intron_variant | MODIFIER | c.96-18779_96-18776d others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196511116 | ||||||
| chr1:196511116
|
AACACAC | A | 12 | a0001c0001t0001g0003a0001c0001t0001g0013a0001c0001t0001g0037others(9): Show | 12 | HG01261.hp1 HG02109.hp2 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.96-18781_96-18776d others(8): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196511116 | ||||||
| chr1:196511116
|
AACACACA others(1): Show |
A | 36 | a0001c0001t0001g0018a0001c0001t0001g0039a0001c0001t0001g0043others(33): Show | 36 | HG00639.hp1 HG00673.hp1 HG00735.hp1 others(33): Show |
intron_variant | MODIFIER | c.96-18783_96-18776d others(10): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196511116 | ||||||
| chr1:196511116
|
AACACACA others(3): Show |
A | 12 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(9): Show | 12 | HG01891.hp2 HG02258.hp1 HG02572.hp1 others(9): Show |
intron_variant | MODIFIER | c.96-18785_96-18776d others(12): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196511116 | ||||||
| chr1:196511116
|
AACACACA others(5): Show |
A | 1 | a0001c0001t0001g0069 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.96-18787_96-18776d others(14): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196511116 | ||||||
| chr1:196511260
|
G | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.96-18919C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196511260 | ||||||
| chr1:196511356
|
A | C | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.96-19015T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196511356 | ||||||
| chr1:196511707
|
A | G | 1 | a0001c0001t0001g0055 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.96-19366T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196511707 | ||||||
| chr1:196512250
|
T | C | 7 | a0001c0001t0002g0113a0001c0001t0002g0114a0001c0001t0002g0115others(4): Show | 7 | HG02258.hp2 HG02647.hp1 HG03669.hp1 others(4): Show |
intron_variant | MODIFIER | c.96-19909A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196512250 | ||||||
| chr1:196512378
|
G | T | 17 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(14): Show | 17 | HG02258.hp2 HG02622.hp2 HG02647.hp1 others(14): Show |
intron_variant | MODIFIER | c.96-20037C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196512378 | ||||||
| chr1:196512716
|
T | C | 2 | a0001c0001t0001g0022a0001c0001t0001g0024 | 2 | NA18988.hp2 NA18990.hp1 |
intron_variant | MODIFIER | c.96-20375A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196512716 | ||||||
| chr1:196512806
|
C | T | 1 | a0001c0001t0001g0013 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.96-20465G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196512806 | ||||||
| chr1:196513220
|
C | G | 1 | a0001c0001t0003g0089 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.96-20879G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196513220 | ||||||
| chr1:196513227
|
C | A | 103 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(100): Show | 103 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(100): Show |
intron_variant | MODIFIER | c.96-20886G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196513227 | ||||||
| chr1:196513806
|
A | G | 2 | a0001c0001t0002g0115a0001c0001t0002g0116 | 2 | HG02258.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.96-21465T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196513806 | ||||||
| chr1:196514353
|
C | T | 8 | a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0085others(5): Show | 8 | HG02622.hp2 HG02723.hp1 HG02818.hp1 others(5): Show |
intron_variant | MODIFIER | c.96-22012G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196514353 | ||||||
| chr1:196514362
|
T | G | 1 | a0001c0002t0001g0122 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.96-22021A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196514362 | ||||||
| chr1:196514766
|
TG | T | 8 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(5): Show | 8 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.96-22426delC | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196514766 | ||||||
| chr1:196514767
|
G | T | 1 | a0001c0002t0001g0122 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.96-22426C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196514767 | ||||||
| chr1:196514796
|
A | T | 1 | a0001c0001t0001g0073 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.96-22455T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196514796 | ||||||
| chr1:196514811
|
T | G | 122 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(119): Show | 122 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(119): Show |
intron_variant | MODIFIER | c.96-22470A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196514811 | ||||||
| chr1:196515450
|
CA | C | 13 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(10): Show | 13 | HG01109.hp2 HG02258.hp1 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.96-23110delT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196515450 | ||||||
| chr1:196515770
|
A | T | 8 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(5): Show | 8 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.96-23429T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196515770 | ||||||
| chr1:196516292
|
C | A | 1 | a0001c0001t0003g0082 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.96-23951G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196516292 | ||||||
| chr1:196516322
|
C | A | 1 | a0001c0001t0001g0013 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.96-23981G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196516322 | ||||||
| chr1:196516396
|
C | T | 1 | a0001c0001t0001g0075 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.96-24055G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196516396 | ||||||
| chr1:196516427
|
T | C | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.96-24086A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196516427 | ||||||
| chr1:196516464
|
G | A | 13 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(10): Show | 13 | HG01109.hp2 HG02258.hp1 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.96-24123C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196516464 | ||||||
| chr1:196516471
|
G | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.96-24130C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196516471 | ||||||
| chr1:196516600
|
A | G | 1 | a0001c0001t0001g0059 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.96-24259T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196516600 | ||||||
| chr1:196516633
|
G | A | 17 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(14): Show | 17 | HG02258.hp2 HG02622.hp2 HG02647.hp1 others(14): Show |
intron_variant | MODIFIER | c.96-24292C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196516633 | ||||||
| chr1:196516710
|
C | A | 4 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0095others(1): Show | 4 | HG01109.hp2 HG02818.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.96-24369G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196516710 | ||||||
| chr1:196517016
|
A | G | 122 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(119): Show | 122 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(119): Show |
intron_variant | MODIFIER | c.96-24675T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196517016 | ||||||
| chr1:196517294
|
T | C | 104 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(101): Show | 104 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(101): Show |
intron_variant | MODIFIER | c.96-24953A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196517294 | ||||||
| chr1:196517539
|
A | G | 2 | a0001c0001t0001g0056a0001c0001t0001g0077 | 2 | HG02630.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.96-25198T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196517539 | ||||||
| chr1:196517852
|
A | G | 1 | a0001c0001t0003g0103 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.96-25511T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196517852 | ||||||
| chr1:196518478
|
TA | T | 91 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(88): Show | 91 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(88): Show |
intron_variant | MODIFIER | c.96-26138delT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196518478 | ||||||
| chr1:196518478
|
TAA | T | 27 | a0001c0001t0001g0008a0001c0001t0001g0069a0001c0001t0001g0079others(24): Show | 27 | HG00323.hp2 HG02145.hp2 HG02258.hp2 others(24): Show |
intron_variant | MODIFIER | c.96-26139_96-26138d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196518478 | ||||||
| chr1:196518842
|
G | A | 2 | a0001c0001t0001g0075a0001c0006t0001g0061 | 2 | HG02451.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.96-26501C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196518842 | ||||||
| chr1:196519225
|
A | T | 14 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(11): Show | 14 | HG01109.hp2 HG02258.hp1 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.96-26884T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196519225 | ||||||
| chr1:196519247
|
G | A | 24 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(21): Show | 24 | HG02145.hp2 HG02258.hp2 HG02622.hp2 others(21): Show |
intron_variant | MODIFIER | c.96-26906C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196519247 | ||||||
| chr1:196519327
|
G | A | 1 | a0001c0001t0002g0115 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.96-26986C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196519327 | ||||||
| chr1:196519368
|
A | T | 24 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(21): Show | 24 | HG02145.hp2 HG02258.hp2 HG02622.hp2 others(21): Show |
intron_variant | MODIFIER | c.96-27027T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196519368 | ||||||
| chr1:196519481
|
A | G | 1 | a0001c0001t0001g0037 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.96-27140T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196519481 | ||||||
| chr1:196519511
|
AT | A | 8 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(5): Show | 8 | HG02622.hp2 HG02723.hp1 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.96-27171delA | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196519511 | ||||||
| chr1:196519659
|
G | A | 8 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(5): Show | 8 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.96-27318C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196519659 | ||||||
| chr1:196519721
|
C | T | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.96-27380G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196519721 | ||||||
| chr1:196519750
|
T | C | 1 | a0001c0001t0001g0045 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.96-27409A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196519750 | ||||||
| chr1:196519928
|
C | A | 2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.96-27587G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196519928 | ||||||
| chr1:196519966
|
C | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.96-27625G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196519966 | ||||||
| chr1:196520121
|
C | T | 7 | a0001c0001t0001g0088a0001c0001t0001g0102a0001c0001t0001g0105others(4): Show | 7 | HG02145.hp2 HG02723.hp2 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.96-27780G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196520121 | ||||||
| chr1:196520131
|
G | A | 1 | a0001c0001t0002g0115 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.96-27790C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196520131 | ||||||
| chr1:196520164
|
A | G | 8 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(5): Show | 8 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.96-27823T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196520164 | ||||||
| chr1:196520366
|
G | A | 1 | a0001c0001t0001g0006 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.96-28025C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196520366 | ||||||
| chr1:196520374
|
C | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.96-28033G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196520374 | ||||||
| chr1:196520695
|
G | A | 2 | a0001c0001t0002g0048a0001c0001t0002g0076 | 2 | HG02809.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.96-28354C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196520695 | ||||||
| chr1:196520782
|
T | C | 3 | a0001c0001t0001g0088a0001c0001t0001g0102a0001c0001t0001g0105 | 3 | HG02723.hp2 NA19030.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.96-28441A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196520782 | ||||||
| chr1:196521047
|
C | T | 7 | a0001c0001t0002g0113a0001c0001t0002g0114a0001c0001t0002g0115others(4): Show | 7 | HG02258.hp2 HG02647.hp1 HG03669.hp1 others(4): Show |
intron_variant | MODIFIER | c.96-28706G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196521047 | ||||||
| chr1:196521078
|
G | A | 1 | a0001c0001t0001g0040 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.96-28737C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196521078 | ||||||
| chr1:196521437
|
C | G | 1 | a0001c0001t0001g0101 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.96-29096G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196521437 | ||||||
| chr1:196521705
|
A | G | 8 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(5): Show | 8 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.96-29364T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196521705 | ||||||
| chr1:196521747
|
G | T | 33 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(30): Show | 33 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(30): Show |
intron_variant | MODIFIER | c.96-29406C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196521747 | ||||||
| chr1:196521834
|
A | T | 40 | a0001c0001t0001g0018a0001c0001t0001g0041a0001c0001t0001g0042others(37): Show | 40 | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(37): Show |
intron_variant | MODIFIER | c.96-29493T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196521834 | ||||||
| chr1:196521925
|
C | A | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.96-29584G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196521925 | ||||||
| chr1:196521952
|
T | A | 2 | a0001c0001t0001g0036a0001c0001t0001g0037 | 2 | HG02109.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.96-29611A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196521952 | ||||||
| chr1:196522018
|
GTAAT | G | 14 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(11): Show | 14 | HG01109.hp2 HG02258.hp1 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.96-29681_96-29678d others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196522018 | ||||||
| chr1:196522058
|
T | C | 1 | a0001c0001t0001g0058 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.96-29717A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196522058 | ||||||
| chr1:196522176
|
T | A | 1 | a0001c0001t0001g0073 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.96-29835A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196522176 | ||||||
| chr1:196522223
|
CTTCT | C | 2 | a0001c0005t0001g0014a0001c0005t0001g0016 | 2 | HG02257.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.96-29886_96-29883d others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196522223 | ||||||
| chr1:196522226
|
C | G | 36 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(33): Show | 36 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(33): Show |
intron_variant | MODIFIER | c.96-29885G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196522226 | ||||||
| chr1:196522389
|
G | A | 1 | a0001c0002t0001g0122 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.96-30048C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196522389 | ||||||
| chr1:196522415
|
T | C | 1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.96-30074A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196522415 | ||||||
| chr1:196522497
|
T | C | 1 | a0001c0001t0001g0010 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.96-30156A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196522497 | ||||||
| chr1:196522594
|
G | A | 1 | a0001c0001t0001g0045 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.96-30253C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196522594 | ||||||
| chr1:196522611
|
G | C | 9 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(6): Show | 9 | HG02622.hp2 HG02723.hp1 HG02818.hp1 others(6): Show |
intron_variant | MODIFIER | c.96-30270C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196522611 | ||||||
| chr1:196522788
|
C | T | 3 | a0001c0001t0001g0039a0001c0001t0003g0035a0001c0001t0009g0038 | 3 | HG02451.hp1 HG03225.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.96-30447G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196522788 | ||||||
| chr1:196522849
|
A | C | 1 | a0001c0001t0001g0037 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.96-30508T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196522849 | ||||||
| chr1:196523124
|
C | T | 1 | a0001c0001t0002g0049 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.96-30783G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196523124 | ||||||
| chr1:196523140
|
A | G | 1 | a0001c0001t0002g0116 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.96-30799T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196523140 | ||||||
| chr1:196523232
|
C | G | 2 | a0001c0001t0001g0134a0001c0001t0001g0136 | 2 | HG01496.hp1 HG01981.hp1 |
intron_variant | MODIFIER | c.96-30891G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196523232 | ||||||
| chr1:196524110
|
G | GA | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.96-31770dupT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196524110 | ||||||
| chr1:196524119
|
G | T | 1 | a0001c0001t0002g0118 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.96-31778C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196524119 | ||||||
| chr1:196524217
|
G | A | 1 | a0001c0001t0002g0051 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.96-31876C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196524217 | ||||||
| chr1:196524370
|
GA | G | 23 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(20): Show | 23 | HG01109.hp2 HG02109.hp1 HG02145.hp1 others(20): Show |
intron_variant | MODIFIER | c.96-32030delT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196524370 | ||||||
| chr1:196524406
|
G | A | 103 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(100): Show | 103 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(100): Show |
intron_variant | MODIFIER | c.96-32065C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196524406 | ||||||
| chr1:196524436
|
T | A | 1 | a0001c0001t0001g0101 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.96-32095A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196524436 | ||||||
| chr1:196524557
|
T | C | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.96-32216A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196524557 | ||||||
| chr1:196524558
|
G | A | 1 | a0001c0001t0001g0101 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.96-32217C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196524558 | ||||||
| chr1:196525226
|
T | A | 24 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(21): Show | 24 | HG02145.hp2 HG02258.hp2 HG02622.hp2 others(21): Show |
intron_variant | MODIFIER | c.96-32885A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196525226 | ||||||
| chr1:196525384
|
A | T | 102 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(99): Show | 102 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(99): Show |
intron_variant | MODIFIER | c.96-33043T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196525384 | ||||||
| chr1:196525417
|
T | C | 10 | a0001c0001t0001g0018a0001c0001t0001g0043a0001c0001t0001g0045others(7): Show | 10 | HG01106.hp1 HG01168.hp2 HG01496.hp2 others(7): Show |
intron_variant | MODIFIER | c.96-33076A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196525417 | ||||||
| chr1:196525608
|
T | C | 8 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(5): Show | 8 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.96-33267A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196525608 | ||||||
| chr1:196525995
|
A | G | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.96-33654T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196525995 | ||||||
| chr1:196526015
|
C | CTG | 21 | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0013others(18): Show | 21 | HG00323.hp1 HG00673.hp2 HG01346.hp1 others(18): Show |
intron_variant | MODIFIER | c.96-33676_96-33675d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196526015 | ||||||
| chr1:196526015
|
C | CTGTG | 31 | a0001c0001t0001g0017a0001c0001t0001g0019a0001c0001t0001g0021others(28): Show | 31 | HG00140.hp2 HG00639.hp2 HG00741.hp1 others(28): Show |
intron_variant | MODIFIER | c.96-33678_96-33675d others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196526015 | ||||||
| chr1:196526015
|
C | CTGTGTG | 2 | a0001c0001t0001g0085a0001c0001t0003g0104 | 2 | HG02145.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.96-33680_96-33675d others(8): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196526015 | ||||||
| chr1:196526015
|
CTG | C | 10 | a0001c0001t0001g0036a0001c0001t0001g0045a0001c0001t0001g0058others(7): Show | 10 | HG00140.hp1 HG01891.hp1 HG03225.hp2 others(7): Show |
intron_variant | MODIFIER | c.96-33676_96-33675d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196526015 | ||||||
| chr1:196526015
|
CTGTG | C | 15 | a0001c0001t0001g0042a0001c0001t0001g0059a0001c0001t0001g0070others(12): Show | 15 | HG02109.hp1 HG02145.hp1 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.96-33678_96-33675d others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196526015 | ||||||
| chr1:196526015
|
CTGTGTG | C | 15 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(12): Show | 15 | HG01109.hp2 HG01175.hp2 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.96-33680_96-33675d others(8): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196526015 | ||||||
| chr1:196526015
|
CTGTGTGT others(1): Show |
C | 4 | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0001t0002g0115others(1): Show | 4 | HG02258.hp2 HG02647.hp1 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.96-33682_96-33675d others(10): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196526015 | ||||||
| chr1:196526134
|
A | G | 1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.96-33793T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196526134 | ||||||
| chr1:196526343
|
T | C | 102 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(99): Show | 102 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(99): Show |
intron_variant | MODIFIER | c.96-34002A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196526343 | ||||||
| chr1:196526436
|
C | A | 19 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0044others(16): Show | 19 | HG00140.hp1 HG00323.hp2 HG00673.hp1 others(16): Show |
intron_variant | MODIFIER | c.96-34095G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196526436 | ||||||
| chr1:196526539
|
C | T | 10 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(7): Show | 10 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(7): Show |
intron_variant | MODIFIER | c.96-34198G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196526539 | ||||||
| chr1:196526753
|
T | C | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.96-34412A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196526753 | ||||||
| chr1:196527125
|
A | G | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.96-34784T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196527125 | ||||||
| chr1:196527150
|
C | A | 10 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(7): Show | 10 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(7): Show |
intron_variant | MODIFIER | c.96-34809G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196527150 | ||||||
| chr1:196527398
|
A | T | 14 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(11): Show | 14 | HG01109.hp2 HG02258.hp1 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.96-35057T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196527398 | ||||||
| chr1:196527481
|
G | A | 2 | a0001c0001t0002g0113a0001c0001t0002g0117 | 2 | HG03834.hp2 HG04115.hp1 |
intron_variant | MODIFIER | c.96-35140C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196527481 | ||||||
| chr1:196527502
|
A | G | 9 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(6): Show | 9 | HG02622.hp2 HG02723.hp1 HG02818.hp1 others(6): Show |
intron_variant | MODIFIER | c.96-35161T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196527502 | ||||||
| chr1:196527621
|
T | A | 2 | a0001c0002t0001g0124a0001c0002t0001g0126 | 2 | HG02109.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.96-35280A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196527621 | ||||||
| chr1:196527744
|
A | C | 7 | a0001c0001t0002g0113a0001c0001t0002g0114a0001c0001t0002g0115others(4): Show | 7 | HG02258.hp2 HG02647.hp1 HG03669.hp1 others(4): Show |
intron_variant | MODIFIER | c.96-35403T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196527744 | ||||||
| chr1:196527897
|
T | C | 1 | a0001c0001t0001g0037 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.96-35556A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196527897 | ||||||
| chr1:196527934
|
C | T | 1 | a0001c0001t0003g0035 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.96-35593G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196527934 | ||||||
| chr1:196527957
|
A | C | 1 | a0001c0001t0001g0055 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.96-35616T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196527957 | ||||||
| chr1:196528244
|
G | A | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.96-35903C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196528244 | ||||||
| chr1:196528290
|
T | C | 116 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(113): Show | 116 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(113): Show |
intron_variant | MODIFIER | c.96-35949A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196528290 | ||||||
| chr1:196528725
|
G | A | 1 | a0001c0001t0002g0116 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.96-36384C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196528725 | ||||||
| chr1:196528966
|
C | T | 1 | a0001c0002t0001g0122 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.96-36625G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196528966 | ||||||
| chr1:196528993
|
CT | C | 14 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(11): Show | 14 | HG01109.hp2 HG02258.hp1 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.96-36653delA | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196528993 | ||||||
| chr1:196529147
|
A | G | 2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.96-36806T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196529147 | ||||||
| chr1:196529413
|
A | G | 2 | a0001c0001t0001g0003a0001c0007t0001g0091 | 2 | HG02280.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.96-37072T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196529413 | ||||||
| chr1:196529543
|
A | T | 1 | a0001c0001t0001g0037 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.96-37202T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196529543 | ||||||
| chr1:196530204
|
T | C | 1 | a0001c0001t0003g0082 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.96-37863A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196530204 | ||||||
| chr1:196530320
|
T | A | 1 | a0001c0001t0002g0034 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.96-37979A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196530320 | ||||||
| chr1:196530537
|
T | C | 14 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(11): Show | 14 | HG01109.hp2 HG02258.hp1 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.96-38196A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196530537 | ||||||
| chr1:196530707
|
T | C | 2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.96-38366A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196530707 | ||||||
| chr1:196531145
|
A | G | 1 | a0001c0002t0001g0122 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.96-38804T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196531145 | ||||||
| chr1:196531229
|
T | G | 131 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(128): Show | 131 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(128): Show |
intron_variant | MODIFIER | c.96-38888A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196531229 | ||||||
| chr1:196531264
|
A | C | 1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.96-38923T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196531264 | ||||||
| chr1:196531442
|
C | T | 8 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(5): Show | 8 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.96-39101G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196531442 | ||||||
| chr1:196531480
|
C | T | 10 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(7): Show | 10 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(7): Show |
intron_variant | MODIFIER | c.96-39139G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196531480 | ||||||
| chr1:196531503
|
A | G | 1 | a0001c0001t0001g0036 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.96-39162T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196531503 | ||||||
| chr1:196531892
|
G | C | 1 | a0001c0002t0001g0122 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.96-39551C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196531892 | ||||||
| chr1:196531967
|
A | G | 5 | a0001c0002t0001g0121a0001c0002t0001g0123a0001c0002t0001g0124others(2): Show | 5 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.96-39626T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196531967 | ||||||
| chr1:196532023
|
A | G | 2 | a0001c0002t0001g0124a0001c0002t0001g0126 | 2 | HG02109.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.96-39682T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196532023 | ||||||
| chr1:196532302
|
G | C | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.96-39961C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196532302 | ||||||
| chr1:196532476
|
A | T | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.96-40135T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196532476 | ||||||
| chr1:196532695
|
C | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.96-40354G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196532695 | ||||||
| chr1:196533275
|
T | C | 1 | a0001c0004t0004g0133 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.96-40934A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196533275 | ||||||
| chr1:196533369
|
G | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.96-41028C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196533369 | ||||||
| chr1:196533407
|
T | C | 1 | a0001c0001t0001g0093 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.96-41066A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196533407 | ||||||
| chr1:196533575
|
T | C | 1 | a0001c0001t0001g0055 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.96-41234A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196533575 | ||||||
| chr1:196533583
|
T | G | 1 | a0001c0001t0001g0074 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.96-41242A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196533583 | ||||||
| chr1:196533706
|
T | A | 6 | a0001c0001t0001g0042a0001c0001t0001g0060a0001c0001t0001g0068others(3): Show | 6 | HG00673.hp1 HG01358.hp1 NA18984.hp2 others(3): Show |
intron_variant | MODIFIER | c.96-41365A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196533706 | ||||||
| chr1:196533814
|
A | T | 78 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(75): Show | 78 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(75): Show |
intron_variant | MODIFIER | c.96-41473T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196533814 | ||||||
| chr1:196534452
|
G | A | 3 | a0001c0003t0001g0108a0001c0003t0001g0109a0001c0003t0001g0112 | 3 | HG02280.hp2 NA18522.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.96-42111C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196534452 | ||||||
| chr1:196534612
|
A | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.96-42271T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196534612 | ||||||
| chr1:196534769
|
A | G | 1 | a0001c0001t0001g0036 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.96-42428T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196534769 | ||||||
| chr1:196535227
|
T | C | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.96-42886A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196535227 | ||||||
| chr1:196535378
|
A | G | 1 | a0001c0001t0001g0072 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.96-43037T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196535378 | ||||||
| chr1:196535445
|
A | G | 10 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(7): Show | 10 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(7): Show |
intron_variant | MODIFIER | c.96-43104T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196535445 | ||||||
| chr1:196535741
|
G | A | 78 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(75): Show | 78 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(75): Show |
intron_variant | MODIFIER | c.96-43400C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196535741 | ||||||
| chr1:196535794
|
A | T | 1 | a0001c0001t0003g0082 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.96-43453T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196535794 | ||||||
| chr1:196536282
|
G | C | 3 | a0001c0001t0001g0003a0001c0001t0001g0102a0001c0007t0001g0091 | 3 | HG02280.hp1 HG02717.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.96-43941C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196536282 | ||||||
| chr1:196536333
|
G | A | 1 | a0001c0001t0001g0083 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.96-43992C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196536333 | ||||||
| chr1:196536442
|
C | T | 1 | a0001c0001t0001g0080 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.96-44101G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196536442 | ||||||
| chr1:196536717
|
G | A | 2 | a0001c0001t0001g0039a0001c0001t0003g0035 | 2 | HG02451.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.96-44376C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196536717 | ||||||
| chr1:196536739
|
C | T | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.96-44398G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196536739 | ||||||
| chr1:196536743
|
A | T | 1 | a0001c0001t0001g0080 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.96-44402T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196536743 | ||||||
| chr1:196536777
|
T | G | 2 | a0001c0001t0001g0056a0001c0001t0001g0077 | 2 | HG02630.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.96-44436A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196536777 | ||||||
| chr1:196537011
|
T | C | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.96-44670A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196537011 | ||||||
| chr1:196537015
|
C | G | 15 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(12): Show | 15 | HG01109.hp2 HG02258.hp1 HG02280.hp1 others(12): Show |
intron_variant | MODIFIER | c.96-44674G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196537015 | ||||||
| chr1:196537158
|
T | C | 6 | a0001c0001t0001g0088a0001c0001t0001g0105a0001c0001t0001g0107others(3): Show | 6 | HG02145.hp2 HG02723.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.96-44817A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196537158 | ||||||
| chr1:196537334
|
T | C | 1 | a0001c0001t0001g0131 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.96-44993A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196537334 | ||||||
| chr1:196538030
|
T | C | 1 | a0001c0001t0001g0073 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.96-45689A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196538030 | ||||||
| chr1:196538075
|
G | T | 7 | a0001c0001t0002g0113a0001c0001t0002g0114a0001c0001t0002g0115others(4): Show | 7 | HG02258.hp2 HG02647.hp1 HG03669.hp1 others(4): Show |
intron_variant | MODIFIER | c.96-45734C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196538075 | ||||||
| chr1:196538092
|
G | T | 7 | a0001c0001t0002g0113a0001c0001t0002g0114a0001c0001t0002g0115others(4): Show | 7 | HG02258.hp2 HG02647.hp1 HG03669.hp1 others(4): Show |
intron_variant | MODIFIER | c.96-45751C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196538092 | ||||||
| chr1:196538227
|
C | T | 10 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(7): Show | 10 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(7): Show |
intron_variant | MODIFIER | c.96-45886G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196538227 | ||||||
| chr1:196538277
|
C | T | 15 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(12): Show | 15 | HG02145.hp2 HG02622.hp2 HG02723.hp1 others(12): Show |
intron_variant | MODIFIER | c.96-45936G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196538277 | ||||||
| chr1:196538395
|
G | A | 5 | a0001c0001t0002g0113a0001c0001t0002g0114a0001c0001t0002g0117others(2): Show | 5 | HG03669.hp1 HG03834.hp2 HG04115.hp1 others(2): Show |
intron_variant | MODIFIER | c.96-46054C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196538395 | ||||||
| chr1:196538646
|
A | G | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.96-46305T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196538646 | ||||||
| chr1:196538749
|
C | T | 40 | a0001c0001t0001g0018a0001c0001t0001g0041a0001c0001t0001g0042others(37): Show | 40 | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(37): Show |
intron_variant | MODIFIER | c.96-46408G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196538749 | ||||||
| chr1:196538875
|
C | T | 1 | a0001c0001t0001g0130 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.96-46534G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196538875 | ||||||
| chr1:196539076
|
C | T | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.96-46735G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196539076 | ||||||
| chr1:196539260
|
G | A | 40 | a0001c0001t0001g0018a0001c0001t0001g0041a0001c0001t0001g0042others(37): Show | 40 | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(37): Show |
intron_variant | MODIFIER | c.96-46919C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196539260 | ||||||
| chr1:196539595
|
C | T | 1 | a0001c0002t0001g0122 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.96-47254G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196539595 | ||||||
| chr1:196540161
|
C | A | 3 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010 | 3 | HG02895.hp2 HG02897.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.96-47820G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196540161 | ||||||
| chr1:196540279
|
G | A | 1 | a0001c0001t0001g0039 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.96-47938C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196540279 | ||||||
| chr1:196540316
|
G | A | 2 | a0001c0001t0001g0022a0001c0001t0001g0024 | 2 | NA18988.hp2 NA18990.hp1 |
intron_variant | MODIFIER | c.96-47975C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196540316 | ||||||
| chr1:196540506
|
T | C | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.96-48165A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196540506 | ||||||
| chr1:196540509
|
G | T | 2 | a0001c0001t0001g0127a0001c0001t0001g0128 | 2 | HG02809.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.96-48168C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196540509 | ||||||
| chr1:196540614
|
G | A | 103 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(100): Show | 103 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(100): Show |
intron_variant | MODIFIER | c.96-48273C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196540614 | ||||||
| chr1:196540733
|
C | T | 5 | a0001c0001t0001g0044a0001c0001t0001g0053a0001c0001t0001g0065others(2): Show | 5 | HG01109.hp1 HG01175.hp2 HG01891.hp2 others(2): Show |
intron_variant | MODIFIER | c.96-48392G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196540733 | ||||||
| chr1:196540939
|
G | C | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.96-48598C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196540939 | ||||||
| chr1:196541084
|
A | T | 2 | a0001c0002t0001g0124a0001c0002t0001g0126 | 2 | HG02109.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.96-48743T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196541084 | ||||||
| chr1:196541103
|
A | G | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.96-48762T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196541103 | ||||||
| chr1:196541120
|
C | A | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.96-48779G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196541120 | ||||||
| chr1:196541141
|
T | TA | 117 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(114): Show | 117 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(114): Show |
intron_variant | MODIFIER | c.96-48801dupT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196541141 | ||||||
| chr1:196541141
|
T | TAA | 11 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(8): Show | 11 | HG01109.hp2 HG02572.hp1 HG02717.hp1 others(8): Show |
intron_variant | MODIFIER | c.96-48802_96-48801d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196541141 | ||||||
| chr1:196541352
|
A | T | 1 | a0001c0001t0001g0024 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.96-49011T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196541352 | ||||||
| chr1:196541399
|
TA | T | 9 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(6): Show | 9 | HG02622.hp2 HG02723.hp1 HG02818.hp1 others(6): Show |
intron_variant | MODIFIER | c.96-49059delT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196541399 | ||||||
| chr1:196541400
|
A | T | 121 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(118): Show | 121 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(118): Show |
intron_variant | MODIFIER | c.96-49059T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196541400 | ||||||
| chr1:196541435
|
A | T | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.96-49094T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196541435 | ||||||
| chr1:196541615
|
G | A | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.96-49274C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196541615 | ||||||
| chr1:196542087
|
A | C | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.96-49746T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196542087 | ||||||
| chr1:196542189
|
G | A | 1 | a0001c0002t0001g0122 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.96-49848C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196542189 | ||||||
| chr1:196542694
|
T | A | 10 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(7): Show | 10 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(7): Show |
intron_variant | MODIFIER | c.96-50353A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196542694 | ||||||
| chr1:196542744
|
A | T | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.96-50403T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196542744 | ||||||
| chr1:196542782
|
G | A | 1 | a0001c0002t0001g0122 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.96-50441C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196542782 | ||||||
| chr1:196542928
|
G | T | 1 | a0001c0002t0001g0125 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.96-50587C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196542928 | ||||||
| chr1:196542987
|
T | C | 1 | a0001c0001t0001g0135 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.96-50646A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196542987 | ||||||
| chr1:196543002
|
G | A | 1 | a0001c0001t0003g0089 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.96-50661C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196543002 | ||||||
| chr1:196543018
|
G | A | 78 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(75): Show | 78 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(75): Show |
intron_variant | MODIFIER | c.96-50677C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196543018 | ||||||
| chr1:196543166
|
T | C | 10 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(7): Show | 10 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(7): Show |
intron_variant | MODIFIER | c.96-50825A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196543166 | ||||||
| chr1:196543180
|
T | G | 1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.96-50839A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196543180 | ||||||
| chr1:196543197
|
G | T | 1 | a0001c0001t0001g0019 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.96-50856C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196543197 | ||||||
| chr1:196543260
|
C | T | 10 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(7): Show | 10 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(7): Show |
intron_variant | MODIFIER | c.96-50919G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196543260 | ||||||
| chr1:196543274
|
A | G | 2 | a0001c0001t0001g0056a0001c0001t0001g0077 | 2 | HG02630.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.96-50933T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196543274 | ||||||
| chr1:196543464
|
C | G | 40 | a0001c0001t0001g0018a0001c0001t0001g0041a0001c0001t0001g0042others(37): Show | 40 | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(37): Show |
intron_variant | MODIFIER | c.96-51123G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196543464 | ||||||
| chr1:196543652
|
C | T | 131 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(128): Show | 131 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(128): Show |
intron_variant | MODIFIER | c.96-51311G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196543652 | ||||||
| chr1:196543909
|
A | G | 1 | a0001c0001t0001g0037 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.96-51568T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196543909 | ||||||
| chr1:196543933
|
C | A | 1 | a0001c0001t0001g0023 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.96-51592G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196543933 | ||||||
| chr1:196543957
|
C | T | 1 | a0001c0001t0010g0097 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.96-51616G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196543957 | ||||||
| chr1:196543958
|
T | TTTAC | 131 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(128): Show | 131 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(128): Show |
intron_variant | MODIFIER | c.96-51618_96-51617i others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196543958 | ||||||
| chr1:196544095
|
A | G | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.96-51754T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196544095 | ||||||
| chr1:196544193
|
A | G | 30 | a0001c0001t0001g0018a0001c0001t0001g0041a0001c0001t0001g0042others(27): Show | 30 | HG00140.hp1 HG00323.hp2 HG00673.hp1 others(27): Show |
intron_variant | MODIFIER | c.96-51852T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196544193 | ||||||
| chr1:196544283
|
C | A | 1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.96-51942G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196544283 | ||||||
| chr1:196544417
|
G | A | 89 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(86): Show | 89 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(86): Show |
intron_variant | MODIFIER | c.96-52076C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196544417 | ||||||
| chr1:196544497
|
T | C | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.96-52156A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196544497 | ||||||
| chr1:196544564
|
G | A | 40 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(37): Show | 40 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(37): Show |
intron_variant | MODIFIER | c.96-52223C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196544564 | ||||||
| chr1:196544608
|
A | T | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.96-52267T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196544608 | ||||||
| chr1:196544940
|
C | CA | 12 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0090others(9): Show | 12 | HG01109.hp2 HG02258.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.96-52600dupT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196544940 | ||||||
| chr1:196545046
|
A | T | 11 | a0001c0001t0001g0018a0001c0001t0001g0043a0001c0001t0001g0045others(8): Show | 11 | HG01106.hp1 HG01168.hp2 HG01358.hp1 others(8): Show |
intron_variant | MODIFIER | c.96-52705T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196545046 | ||||||
| chr1:196545232
|
A | G | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.96-52891T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196545232 | ||||||
| chr1:196545727
|
C | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.96-53386G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196545727 | ||||||
| chr1:196545816
|
T | C | 12 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0090others(9): Show | 12 | HG01109.hp2 HG02258.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.96-53475A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196545816 | ||||||
| chr1:196545962
|
G | A | 1 | a0001c0001t0005g0106 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.96-53621C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196545962 | ||||||
| chr1:196546034
|
A | C | 127 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(124): Show | 127 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(124): Show |
intron_variant | MODIFIER | c.96-53693T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196546034 | ||||||
| chr1:196546039
|
T | C | 2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.96-53698A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196546039 | ||||||
| chr1:196546259
|
A | C | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.96-53918T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196546259 | ||||||
| chr1:196546423
|
C | G | 1 | a0001c0001t0002g0114 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.96-54082G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196546423 | ||||||
| chr1:196546495
|
T | A | 1 | a0001c0001t0001g0024 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.96-54154A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196546495 | ||||||
| chr1:196546529
|
C | T | 4 | a0001c0001t0001g0017a0001c0001t0001g0019a0001c0001t0001g0021others(1): Show | 4 | HG00140.hp2 HG00639.hp2 HG01074.hp2 others(1): Show |
intron_variant | MODIFIER | c.96-54188G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196546529 | ||||||
| chr1:196546881
|
A | C | 1 | a0001c0001t0001g0036 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.96-54540T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196546881 | ||||||
| chr1:196546975
|
T | C | 1 | a0001c0001t0001g0080 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.96-54634A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196546975 | ||||||
| chr1:196547095
|
C | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.96-54754G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196547095 | ||||||
| chr1:196547142
|
C | T | 1 | a0001c0001t0001g0036 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.96-54801G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196547142 | ||||||
| chr1:196547231
|
T | A | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.96-54890A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196547231 | ||||||
| chr1:196547268
|
C | T | 25 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0017others(22): Show | 25 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(22): Show |
intron_variant | MODIFIER | c.96-54927G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196547268 | ||||||
| chr1:196547418
|
A | T | 1 | a0001c0001t0001g0054 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.96-55077T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196547418 | ||||||
| chr1:196547443
|
T | G | 1 | a0001c0001t0010g0097 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.96-55102A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196547443 | ||||||
| chr1:196547463
|
A | G | 1 | a0001c0001t0001g0078 | 1 | NA18984.hp2 | intron_variant | MODIFIER | c.96-55122T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196547463 | ||||||
| chr1:196547896
|
A | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.96-55555T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196547896 | ||||||
| chr1:196547952
|
G | A | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.96-55611C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196547952 | ||||||
| chr1:196547979
|
T | C | 3 | a0001c0001t0001g0003a0001c0001t0001g0090a0001c0007t0001g0091 | 3 | HG02258.hp1 HG02280.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.96-55638A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196547979 | ||||||
| chr1:196548130
|
T | C | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.96-55789A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196548130 | ||||||
| chr1:196548133
|
TA | T | 12 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0090others(9): Show | 12 | HG01109.hp2 HG02258.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.96-55793delT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196548133 | ||||||
| chr1:196548190
|
T | C | 3 | a0001c0001t0001g0107a0001c0001t0003g0104a0001c0001t0005g0100 | 3 | HG02145.hp2 HG06807.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.96-55849A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196548190 | ||||||
| chr1:196548269
|
T | C | 7 | a0001c0001t0002g0113a0001c0001t0002g0114a0001c0001t0002g0115others(4): Show | 7 | HG02258.hp2 HG02647.hp1 HG03669.hp1 others(4): Show |
intron_variant | MODIFIER | c.96-55928A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196548269 | ||||||
| chr1:196548385
|
C | T | 1 | a0001c0001t0007g0119 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.96-56044G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196548385 | ||||||
| chr1:196548921
|
C | T | 131 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(128): Show | 131 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(128): Show |
intron_variant | MODIFIER | c.96-56580G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196548921 | ||||||
| chr1:196548941
|
T | G | 1 | a0001c0001t0001g0072 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.96-56600A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196548941 | ||||||
| chr1:196549026
|
G | T | 1 | a0001c0001t0001g0036 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.96-56685C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196549026 | ||||||
| chr1:196549154
|
T | TA | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.96-56814dupT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196549154 | ||||||
| chr1:196549248
|
G | GTTTT | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.96-56911_96-56908d others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196549248 | ||||||
| chr1:196549283
|
A | C | 4 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0095others(1): Show | 4 | HG01109.hp2 HG02818.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.96-56942T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196549283 | ||||||
| chr1:196549369
|
C | T | 1 | a0001c0001t0001g0023 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.96-57028G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196549369 | ||||||
| chr1:196549405
|
T | C | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.96-57064A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196549405 | ||||||
| chr1:196549532
|
C | G | 1 | a0001c0001t0001g0086 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.96-57191G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196549532 | ||||||
| chr1:196549893
|
T | C | 80 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(77): Show | 80 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(77): Show |
intron_variant | MODIFIER | c.96-57552A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196549893 | ||||||
| chr1:196550037
|
T | C | 1 | a0001c0001t0001g0075 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.96-57696A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196550037 | ||||||
| chr1:196550061
|
C | T | 2 | a0001c0001t0001g0098a0001c0001t0001g0099 | 2 | HG03471.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.96-57720G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196550061 | ||||||
| chr1:196550105
|
A | T | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.96-57764T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196550105 | ||||||
| chr1:196550111
|
T | C | 1 | a0001c0002t0001g0122 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.96-57770A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196550111 | ||||||
| chr1:196550560
|
A | T | 7 | a0001c0001t0002g0113a0001c0001t0002g0114a0001c0001t0002g0115others(4): Show | 7 | HG02258.hp2 HG02647.hp1 HG03669.hp1 others(4): Show |
intron_variant | MODIFIER | c.95+57655T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196550560 | ||||||
| chr1:196550871
|
T | C | 2 | a0001c0001t0001g0107a0001c0001t0005g0100 | 2 | HG06807.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.95+57344A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196550871 | ||||||
| chr1:196550903
|
A | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.95+57312T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196550903 | ||||||
| chr1:196550968
|
G | C | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.95+57247C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196550968 | ||||||
| chr1:196551299
|
A | G | 1 | a0001c0006t0001g0067 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.95+56916T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196551299 | ||||||
| chr1:196551357
|
A | G | 2 | a0001c0001t0002g0048a0001c0001t0002g0076 | 2 | HG02809.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.95+56858T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196551357 | ||||||
| chr1:196551631
|
G | C | 1 | a0001c0001t0001g0134 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.95+56584C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196551631 | ||||||
| chr1:196551691
|
A | G | 1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.95+56524T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196551691 | ||||||
| chr1:196551693
|
G | A | 80 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(77): Show | 80 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(77): Show |
intron_variant | MODIFIER | c.95+56522C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196551693 | ||||||
| chr1:196551807
|
T | C | 1 | a0001c0001t0011g0066 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.95+56408A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196551807 | ||||||
| chr1:196551902
|
C | T | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.95+56313G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196551902 | ||||||
| chr1:196551919
|
A | G | 40 | a0001c0001t0001g0018a0001c0001t0001g0041a0001c0001t0001g0042others(37): Show | 40 | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(37): Show |
intron_variant | MODIFIER | c.95+56296T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196551919 | ||||||
| chr1:196551948
|
G | T | 17 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(14): Show | 17 | HG02145.hp2 HG02622.hp2 HG02723.hp1 others(14): Show |
intron_variant | MODIFIER | c.95+56267C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196551948 | ||||||
| chr1:196552137
|
C | G | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.95+56078G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196552137 | ||||||
| chr1:196552366
|
C | T | 1 | a0001c0001t0001g0055 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.95+55849G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196552366 | ||||||
| chr1:196553353
|
A | C | 3 | a0001c0001t0001g0003a0001c0001t0001g0090a0001c0007t0001g0091 | 3 | HG02258.hp1 HG02280.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.95+54862T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196553353 | ||||||
| chr1:196553641
|
C | T | 132 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(129): Show | 132 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(129): Show |
intron_variant | MODIFIER | c.95+54574G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196553641 | ||||||
| chr1:196553744
|
T | C | 1 | a0001c0001t0001g0069 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.95+54471A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196553744 | ||||||
| chr1:196553756
|
TA | T | 12 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0090others(9): Show | 12 | HG01109.hp2 HG02258.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.95+54458delT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196553756 | ||||||
| chr1:196553879
|
C | T | 3 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129 | 3 | HG02647.hp2 HG02809.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.95+54336G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196553879 | ||||||
| chr1:196554461
|
A | T | 26 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(23): Show | 26 | HG02145.hp2 HG02258.hp2 HG02622.hp2 others(23): Show |
intron_variant | MODIFIER | c.95+53754T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196554461 | ||||||
| chr1:196554578
|
C | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.95+53637G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196554578 | ||||||
| chr1:196554852
|
C | T | 1 | a0001c0001t0001g0131 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.95+53363G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196554852 | ||||||
| chr1:196555038
|
A | G | 1 | a0001c0001t0009g0038 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.95+53177T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196555038 | ||||||
| chr1:196555137
|
A | G | 10 | a0001c0001t0001g0027a0001c0001t0001g0134a0001c0001t0001g0135others(7): Show | 10 | HG00741.hp1 HG01081.hp1 HG01168.hp1 others(7): Show |
intron_variant | MODIFIER | c.95+53078T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196555137 | ||||||
| chr1:196555335
|
A | G | 2 | a0001c0001t0001g0098a0001c0001t0001g0099 | 2 | HG03471.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.95+52880T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196555335 | ||||||
| chr1:196555523
|
A | C | 5 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(2): Show | 5 | HG02717.hp1 HG02886.hp1 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.95+52692T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196555523 | ||||||
| chr1:196555573
|
C | T | 26 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(23): Show | 26 | HG02145.hp2 HG02258.hp2 HG02622.hp2 others(23): Show |
intron_variant | MODIFIER | c.95+52642G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196555573 | ||||||
| chr1:196556184
|
A | C | 41 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(38): Show | 41 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(38): Show |
intron_variant | MODIFIER | c.95+52031T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196556184 | ||||||
| chr1:196556247
|
C | G | 12 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0090others(9): Show | 12 | HG01109.hp2 HG02258.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.95+51968G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196556247 | ||||||
| chr1:196556290
|
C | T | 1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.95+51925G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196556290 | ||||||
| chr1:196556341
|
T | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.95+51874A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196556341 | ||||||
| chr1:196556599
|
C | T | 24 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(21): Show | 24 | HG02145.hp2 HG02258.hp2 HG02622.hp2 others(21): Show |
intron_variant | MODIFIER | c.95+51616G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196556599 | ||||||
| chr1:196557230
|
C | T | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.95+50985G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196557230 | ||||||
| chr1:196557231
|
G | A | 1 | a0001c0003t0008g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.95+50984C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196557231 | ||||||
| chr1:196557265
|
C | T | 7 | a0001c0001t0001g0102a0001c0001t0001g0105a0001c0001t0001g0107others(4): Show | 7 | HG02145.hp2 HG02723.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.95+50950G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196557265 | ||||||
| chr1:196557343
|
A | G | 12 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0090others(9): Show | 12 | HG01109.hp2 HG02258.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.95+50872T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196557343 | ||||||
| chr1:196557562
|
G | A | 4 | a0001c0001t0001g0060a0001c0001t0001g0078a0001c0001t0001g0130others(1): Show | 4 | HG03486.hp1 NA18984.hp2 NA18988.hp1 others(1): Show |
intron_variant | MODIFIER | c.95+50653C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196557562 | ||||||
| chr1:196557795
|
G | T | 7 | a0001c0001t0002g0113a0001c0001t0002g0114a0001c0001t0002g0115others(4): Show | 7 | HG02258.hp2 HG02647.hp1 HG03669.hp1 others(4): Show |
intron_variant | MODIFIER | c.95+50420C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196557795 | ||||||
| chr1:196558142
|
A | T | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.95+50073T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196558142 | ||||||
| chr1:196558262
|
A | G | 3 | a0001c0001t0002g0049a0001c0001t0002g0050a0001c0001t0002g0051 | 3 | HG00639.hp1 HG01074.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.95+49953T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196558262 | ||||||
| chr1:196558356
|
T | C | 1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.95+49859A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196558356 | ||||||
| chr1:196558380
|
C | CGT | 7 | a0001c0001t0001g0068a0001c0002t0001g0121a0001c0002t0001g0122others(4): Show | 7 | HG01358.hp1 HG02109.hp1 HG02145.hp1 others(4): Show |
intron_variant | MODIFIER | c.95+49833_95+49834d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196558380 | ||||||
| chr1:196558380
|
C | CGTGT | 35 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(32): Show | 35 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(32): Show |
intron_variant | MODIFIER | c.95+49831_95+49834d others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196558380 | ||||||
| chr1:196558423
|
GT | G | 3 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129 | 3 | HG02647.hp2 HG02809.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.95+49791delA | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196558423 | ||||||
| chr1:196558734
|
T | C | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.95+49481A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196558734 | ||||||
| chr1:196558935
|
A | G | 89 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(86): Show | 89 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(86): Show |
intron_variant | MODIFIER | c.95+49280T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196558935 | ||||||
| chr1:196559092
|
G | A | 89 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(86): Show | 89 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(86): Show |
intron_variant | MODIFIER | c.95+49123C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196559092 | ||||||
| chr1:196559352
|
A | G | 12 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0090others(9): Show | 12 | HG01109.hp2 HG02258.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.95+48863T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196559352 | ||||||
| chr1:196560593
|
C | T | 3 | a0001c0001t0001g0025a0001c0001t0002g0007a0001c0001t0002g0033 | 3 | HG00735.hp2 HG01106.hp2 HG01358.hp2 |
intron_variant | MODIFIER | c.95+47622G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196560593 | ||||||
| chr1:196560596
|
C | G | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.95+47619G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196560596 | ||||||
| chr1:196560692
|
T | A | 1 | a0001c0003t0008g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.95+47523A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196560692 | ||||||
| chr1:196560699
|
TC | T | 42 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(39): Show | 42 | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(39): Show |
intron_variant | MODIFIER | c.95+47515delG | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196560699 | ||||||
| chr1:196560700
|
C | T | 47 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(44): Show | 47 | HG00140.hp2 HG00323.hp1 HG00639.hp2 others(44): Show |
intron_variant | MODIFIER | c.95+47515G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196560700 | ||||||
| chr1:196560738
|
C | G | 80 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(77): Show | 80 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(77): Show |
intron_variant | MODIFIER | c.95+47477G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196560738 | ||||||
| chr1:196560846
|
G | A | 1 | a0001c0001t0001g0023 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.95+47369C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196560846 | ||||||
| chr1:196560935
|
T | C | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.95+47280A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196560935 | ||||||
| chr1:196561039
|
G | A | 89 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(86): Show | 89 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(86): Show |
intron_variant | MODIFIER | c.95+47176C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196561039 | ||||||
| chr1:196561162
|
G | C | 1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.95+47053C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196561162 | ||||||
| chr1:196561218
|
A | T | 1 | a0001c0001t0001g0093 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.95+46997T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196561218 | ||||||
| chr1:196561266
|
T | A | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.95+46949A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196561266 | ||||||
| chr1:196561270
|
C | A | 1 | a0001c0001t0001g0069 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.95+46945G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196561270 | ||||||
| chr1:196561541
|
G | A | 3 | a0001c0001t0001g0039a0001c0001t0003g0035a0001c0001t0009g0038 | 3 | HG02451.hp1 HG03225.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.95+46674C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196561541 | ||||||
| chr1:196561611
|
A | G | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.95+46604T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196561611 | ||||||
| chr1:196561652
|
C | CAAAA | 5 | a0001c0001t0002g0114a0001c0001t0002g0115a0001c0001t0002g0116others(2): Show | 5 | HG02258.hp2 HG02647.hp1 HG03834.hp2 others(2): Show |
intron_variant | MODIFIER | c.95+46559_95+46562d others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196561652 | ||||||
| chr1:196561652
|
C | CAAAAAAA others(4): Show |
2 | a0001c0001t0001g0079a0001c0001t0001g0083 | 2 | HG02622.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.95+46552_95+46562d others(13): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196561652 | ||||||
| chr1:196561652
|
C | CAAAAAAA others(5): Show |
3 | a0001c0001t0001g0084a0001c0001t0001g0085a0001c0001t0001g0088 | 3 | HG02723.hp2 HG03041.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.95+46551_95+46562d others(14): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196561652 | ||||||
| chr1:196561652
|
C | CAAAAAAA others(6): Show |
2 | a0001c0001t0001g0086a0001c0001t0006g0001 | 2 | HG01261.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.95+46550_95+46562d others(15): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196561652 | ||||||
| chr1:196561652
|
C | CAAAAAAA others(10): Show |
1 | a0001c0001t0001g0131 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.95+46546_95+46562d others(19): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196561652 | ||||||
| chr1:196561652
|
C | CAAAAAAA others(11): Show |
2 | a0001c0001t0001g0087a0001c0001t0001g0130 | 2 | HG03486.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.95+46545_95+46562d others(20): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196561652 | ||||||
| chr1:196561652
|
C | CAAAAAAA others(19): Show |
1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.95+46562_95+46563i others(28): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196561652 | ||||||
| chr1:196561652
|
CA | C | 12 | a0001c0001t0001g0036a0001c0001t0001g0127a0001c0001t0001g0128others(9): Show | 12 | HG01891.hp1 HG02109.hp1 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.95+46562delT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196561652 | ||||||
| chr1:196561652
|
CAA | C | 7 | a0001c0001t0001g0102a0001c0001t0001g0105a0001c0001t0001g0107others(4): Show | 7 | HG02145.hp2 HG03130.hp2 HG03225.hp2 others(4): Show |
intron_variant | MODIFIER | c.95+46561_95+46562d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196561652 | ||||||
| chr1:196561652
|
CAAAAAAA | C | 12 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0090others(9): Show | 12 | HG01109.hp2 HG02258.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.95+46556_95+46562d others(9): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196561652 | ||||||
| chr1:196561669
|
A | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.95+46546T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196561669 | ||||||
| chr1:196561672
|
A | G | 10 | a0001c0001t0009g0038a0001c0002t0001g0121a0001c0002t0001g0122others(7): Show | 10 | HG00323.hp1 HG01081.hp2 HG02109.hp1 others(7): Show |
intron_variant | MODIFIER | c.95+46543T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196561672 | ||||||
| chr1:196561675
|
A | AAAAAAAA others(18): Show |
1 | a0002c0008t0001g0020 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.95+46539_95+46540i others(27): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196561675 | ||||||
| chr1:196561675
|
A | AAAAAAAA others(15): Show |
1 | a0001c0001t0001g0010 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.95+46539_95+46540i others(24): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196561675 | ||||||
| chr1:196561675
|
A | AAAAAAAA others(14): Show |
1 | a0001c0001t0001g0013 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.95+46539_95+46540i others(23): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196561675 | ||||||
| chr1:196561675
|
A | AAAAAAAA others(13): Show |
2 | a0001c0001t0001g0011a0001c0001t0001g0012 | 2 | HG02717.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.95+46539_95+46540i others(22): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196561675 | ||||||
| chr1:196561675
|
A | AAAAAAAA others(12): Show |
5 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0039others(2): Show | 5 | HG00741.hp1 HG02451.hp1 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.95+46539_95+46540i others(21): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196561675 | ||||||
| chr1:196561675
|
A | AAAAAAAA others(11): Show |
5 | a0001c0001t0001g0024a0001c0001t0002g0029a0001c0001t0002g0033others(2): Show | 5 | HG00735.hp2 HG01346.hp1 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.95+46539_95+46540i others(20): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196561675 | ||||||
| chr1:196561675
|
A | AAAAAAAA others(10): Show |
13 | a0001c0001t0001g0017a0001c0001t0001g0019a0001c0001t0001g0027others(10): Show | 13 | HG00639.hp2 HG01074.hp2 HG01081.hp1 others(10): Show |
intron_variant | MODIFIER | c.95+46539_95+46540i others(19): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196561675 | ||||||
| chr1:196561675
|
A | AAAAAAAA others(9): Show |
17 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0018others(14): Show | 17 | HG00140.hp2 HG00639.hp1 HG00673.hp2 others(14): Show |
intron_variant | MODIFIER | c.95+46539_95+46540i others(18): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196561675 | ||||||
| chr1:196561675
|
A | AAAAAAAA others(8): Show |
10 | a0001c0001t0001g0054a0001c0001t0001g0058a0001c0001t0001g0064others(7): Show | 10 | HG00140.hp1 HG00673.hp1 HG01168.hp2 others(7): Show |
intron_variant | MODIFIER | c.95+46539_95+46540i others(17): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196561675 | ||||||
| chr1:196561675
|
A | AAAAAAAA others(7): Show |
14 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0045others(11): Show | 14 | HG00741.hp2 HG01074.hp1 HG01106.hp1 others(11): Show |
intron_variant | MODIFIER | c.95+46539_95+46540i others(16): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196561675 | ||||||
| chr1:196561675
|
A | AAAAAAAA others(6): Show |
7 | a0001c0001t0001g0042a0001c0001t0001g0046a0001c0001t0001g0055others(4): Show | 7 | HG00323.hp2 HG00735.hp1 HG02451.hp2 others(4): Show |
intron_variant | MODIFIER | c.95+46539_95+46540i others(15): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196561675 | ||||||
| chr1:196561675
|
A | G | 14 | a0001c0001t0001g0036a0001c0001t0001g0127a0001c0001t0001g0128others(11): Show | 14 | HG00323.hp1 HG01081.hp2 HG02109.hp1 others(11): Show |
intron_variant | MODIFIER | c.95+46540T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196561675 | ||||||
| chr1:196561679
|
AAGAAG | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.95+46531_95+46535d others(7): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196561679 | ||||||
| chr1:196561682
|
AAG | A | 7 | a0001c0001t0009g0038a0001c0002t0001g0121a0001c0002t0001g0122others(4): Show | 7 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.95+46531_95+46532d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196561682 | ||||||
| chr1:196561684
|
G | GA | 79 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(76): Show | 79 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(76): Show |
intron_variant | MODIFIER | c.95+46530dupT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196561684 | ||||||
| chr1:196561707
|
A | G | 3 | a0001c0001t0001g0042a0001c0001t0001g0072a0001c0001t0001g0074 | 3 | HG00673.hp1 NA18990.hp2 NA19062.hp1 |
intron_variant | MODIFIER | c.95+46508T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196561707 | ||||||
| chr1:196561802
|
A | G | 4 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0095others(1): Show | 4 | HG01109.hp2 HG02818.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.95+46413T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196561802 | ||||||
| chr1:196561956
|
G | A | 1 | a0001c0003t0008g0081 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.95+46259C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196561956 | ||||||
| chr1:196562279
|
G | C | 1 | a0001c0002t0001g0122 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.95+45936C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196562279 | ||||||
| chr1:196562486
|
T | G | 7 | a0001c0001t0002g0113a0001c0001t0002g0114a0001c0001t0002g0115others(4): Show | 7 | HG02258.hp2 HG02647.hp1 HG03669.hp1 others(4): Show |
intron_variant | MODIFIER | c.95+45729A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196562486 | ||||||
| chr1:196562511
|
A | G | 1 | a0001c0001t0001g0053 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.95+45704T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196562511 | ||||||
| chr1:196562642
|
T | C | 3 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0085 | 3 | HG02622.hp2 HG02965.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.95+45573A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196562642 | ||||||
| chr1:196562692
|
C | A | 8 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(5): Show | 8 | HG02622.hp2 HG02723.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.95+45523G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196562692 | ||||||
| chr1:196562829
|
A | G | 132 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(129): Show | 132 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(129): Show |
intron_variant | MODIFIER | c.95+45386T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196562829 | ||||||
| chr1:196562974
|
G | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.95+45241C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196562974 | ||||||
| chr1:196563003
|
T | A | 1 | a0001c0001t0001g0055 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.95+45212A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196563003 | ||||||
| chr1:196563070
|
G | A | 80 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(77): Show | 80 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(77): Show |
intron_variant | MODIFIER | c.95+45145C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196563070 | ||||||
| chr1:196563458
|
G | GA | 10 | a0001c0001t0001g0060a0001c0002t0001g0121a0001c0002t0001g0122others(7): Show | 10 | HG00323.hp1 HG01081.hp2 HG02109.hp1 others(7): Show |
intron_variant | MODIFIER | c.95+44756dupT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196563458 | ||||||
| chr1:196563458
|
GA | G | 9 | a0001c0001t0001g0004a0001c0001t0001g0092a0001c0001t0001g0093others(6): Show | 9 | HG01109.hp2 HG02572.hp1 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.95+44756delT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196563458 | ||||||
| chr1:196563461
|
A | G | 1 | a0001c0001t0001g0022 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.95+44754T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196563461 | ||||||
| chr1:196563480
|
A | ACT | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.95+44733_95+44734d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196563480 | ||||||
| chr1:196563613
|
T | C | 2 | a0001c0001t0001g0039a0001c0001t0003g0035 | 2 | HG02451.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.95+44602A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196563613 | ||||||
| chr1:196563614
|
C | T | 3 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129 | 3 | HG02647.hp2 HG02809.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.95+44601G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196563614 | ||||||
| chr1:196564012
|
A | T | 5 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(2): Show | 5 | HG02717.hp1 HG02886.hp1 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.95+44203T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196564012 | ||||||
| chr1:196564384
|
A | G | 89 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(86): Show | 89 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(86): Show |
intron_variant | MODIFIER | c.95+43831T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196564384 | ||||||
| chr1:196564433
|
C | T | 5 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(2): Show | 5 | HG02717.hp1 HG02886.hp1 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.95+43782G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196564433 | ||||||
| chr1:196564448
|
T | G | 89 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(86): Show | 89 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(86): Show |
intron_variant | MODIFIER | c.95+43767A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196564448 | ||||||
| chr1:196564547
|
C | A | 1 | a0001c0001t0001g0045 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.95+43668G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196564547 | ||||||
| chr1:196564675
|
A | G | 1 | a0001c0001t0001g0037 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.95+43540T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196564675 | ||||||
| chr1:196564793
|
C | G | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.95+43422G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196564793 | ||||||
| chr1:196565106
|
A | T | 1 | a0001c0001t0001g0101 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.95+43109T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196565106 | ||||||
| chr1:196565119
|
C | CA | 5 | a0001c0001t0002g0113a0001c0001t0002g0114a0001c0001t0002g0117others(2): Show | 5 | HG03669.hp1 HG03834.hp2 HG04115.hp1 others(2): Show |
intron_variant | MODIFIER | c.95+43095dupT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196565119 | ||||||
| chr1:196565126
|
A | G | 2 | a0001c0001t0001g0060a0001c0001t0001g0078 | 2 | NA18984.hp2 NA18988.hp1 |
intron_variant | MODIFIER | c.95+43089T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196565126 | ||||||
| chr1:196565131
|
G | T | 2 | a0001c0001t0002g0113a0001c0001t0002g0117 | 2 | HG03834.hp2 HG04115.hp1 |
intron_variant | MODIFIER | c.95+43084C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196565131 | ||||||
| chr1:196565153
|
A | T | 1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.95+43062T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196565153 | ||||||
| chr1:196565276
|
C | G | 1 | a0001c0001t0001g0057 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.95+42939G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196565276 | ||||||
| chr1:196565375
|
T | G | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.95+42840A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196565375 | ||||||
| chr1:196565414
|
C | T | 1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.95+42801G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196565414 | ||||||
| chr1:196565416
|
G | A | 2 | a0001c0001t0001g0098a0001c0001t0001g0099 | 2 | HG03471.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.95+42799C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196565416 | ||||||
| chr1:196565485
|
C | T | 2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.95+42730G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196565485 | ||||||
| chr1:196565584
|
T | C | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.95+42631A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196565584 | ||||||
| chr1:196565592
|
C | CAT | 10 | a0001c0001t0001g0036a0001c0001t0001g0059a0001c0001t0001g0062others(7): Show | 10 | HG00741.hp2 HG02109.hp1 HG02145.hp1 others(7): Show |
intron_variant | MODIFIER | c.95+42621_95+42622d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196565592 | ||||||
| chr1:196565592
|
CAT | C | 42 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0039others(39): Show | 42 | HG01109.hp2 HG02145.hp2 HG02165.hp2 others(39): Show |
intron_variant | MODIFIER | c.95+42621_95+42622d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196565592 | ||||||
| chr1:196566168
|
T | A | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.95+42047A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196566168 | ||||||
| chr1:196566286
|
G | A | 1 | a0001c0001t0001g0069 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.95+41929C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196566286 | ||||||
| chr1:196566391
|
C | A | 1 | a0001c0001t0001g0090 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.95+41824G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196566391 | ||||||
| chr1:196566522
|
G | A | 1 | a0001c0001t0002g0114 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.95+41693C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196566522 | ||||||
| chr1:196567135
|
T | C | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.95+41080A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196567135 | ||||||
| chr1:196567234
|
C | T | 3 | a0001c0001t0001g0098a0001c0001t0001g0099a0001c0001t0010g0097 | 3 | HG02572.hp1 HG03471.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.95+40981G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196567234 | ||||||
| chr1:196567295
|
T | A | 89 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(86): Show | 89 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(86): Show |
intron_variant | MODIFIER | c.95+40920A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196567295 | ||||||
| chr1:196567318
|
T | C | 3 | a0001c0001t0001g0039a0001c0001t0003g0035a0001c0001t0009g0038 | 3 | HG02451.hp1 HG03225.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.95+40897A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196567318 | ||||||
| chr1:196567469
|
T | A | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.95+40746A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196567469 | ||||||
| chr1:196567742
|
G | A | 80 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(77): Show | 80 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(77): Show |
intron_variant | MODIFIER | c.95+40473C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196567742 | ||||||
| chr1:196567823
|
A | C | 1 | a0001c0001t0002g0034 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.95+40392T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196567823 | ||||||
| chr1:196567965
|
G | A | 1 | a0001c0001t0001g0101 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.95+40250C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196567965 | ||||||
| chr1:196567996
|
G | A | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+40219C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196567996 | ||||||
| chr1:196568026
|
T | C | 1 | a0001c0001t0001g0037 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.95+40189A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196568026 | ||||||
| chr1:196568133
|
C | A | 3 | a0001c0001t0001g0044a0001c0006t0001g0061a0001c0006t0001g0067 | 3 | HG01109.hp1 HG02451.hp2 HG02572.hp2 |
intron_variant | MODIFIER | c.95+40082G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196568133 | ||||||
| chr1:196568369
|
G | A | 1 | a0001c0001t0005g0100 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.95+39846C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196568369 | ||||||
| chr1:196568453
|
G | A | 24 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(21): Show | 24 | HG02145.hp2 HG02258.hp2 HG02622.hp2 others(21): Show |
intron_variant | MODIFIER | c.95+39762C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196568453 | ||||||
| chr1:196568487
|
A | T | 131 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(128): Show | 131 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(128): Show |
intron_variant | MODIFIER | c.95+39728T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196568487 | ||||||
| chr1:196568595
|
C | CA | 39 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(36): Show | 39 | HG00140.hp2 HG00673.hp2 HG00735.hp2 others(36): Show |
intron_variant | MODIFIER | c.95+39619dupT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196568595 | ||||||
| chr1:196568721
|
A | G | 89 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(86): Show | 89 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(86): Show |
intron_variant | MODIFIER | c.95+39494T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196568721 | ||||||
| chr1:196568780
|
CT | C | 88 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(85): Show | 88 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(85): Show |
intron_variant | MODIFIER | c.95+39434delA | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196568780 | ||||||
| chr1:196568780
|
CTT | C | 38 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0079others(35): Show | 38 | HG01109.hp2 HG02145.hp2 HG02258.hp1 others(35): Show |
intron_variant | MODIFIER | c.95+39433_95+39434d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196568780 | ||||||
| chr1:196569762
|
C | A | 5 | a0001c0001t0001g0044a0001c0001t0001g0053a0001c0001t0001g0065others(2): Show | 5 | HG01109.hp1 HG01175.hp2 HG01891.hp2 others(2): Show |
intron_variant | MODIFIER | c.95+38453G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196569762 | ||||||
| chr1:196569782
|
C | T | 89 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(86): Show | 89 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(86): Show |
intron_variant | MODIFIER | c.95+38433G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196569782 | ||||||
| chr1:196569979
|
G | A | 1 | a0001c0001t0001g0036 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.95+38236C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196569979 | ||||||
| chr1:196570067
|
T | TAAAAA | 5 | a0001c0001t0001g0086a0001c0001t0001g0090a0001c0001t0001g0098others(2): Show | 5 | HG02258.hp1 HG02572.hp1 HG03209.hp2 others(2): Show |
intron_variant | MODIFIER | c.95+38143_95+38147d others(7): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196570067 | ||||||
| chr1:196570067
|
T | TAAAAAAA others(3): Show |
1 | a0001c0001t0003g0089 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.95+38138_95+38147d others(12): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196570067 | ||||||
| chr1:196570067
|
T | TAAAAAAA others(4): Show |
4 | a0001c0001t0001g0102a0001c0001t0001g0128a0001c0001t0003g0103others(1): Show | 4 | HG02723.hp1 HG02895.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.95+38137_95+38147d others(13): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196570067 | ||||||
| chr1:196570067
|
T | TAAAAAAA others(5): Show |
8 | a0001c0001t0001g0079a0001c0001t0001g0085a0001c0001t0001g0088others(5): Show | 8 | HG02145.hp2 HG02723.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.95+38136_95+38147d others(14): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196570067 | ||||||
| chr1:196570067
|
T | TAAAAAAA others(6): Show |
2 | a0001c0001t0001g0083a0001c0001t0001g0087 | 2 | HG02622.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.95+38135_95+38147d others(15): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196570067 | ||||||
| chr1:196570067
|
T | TAAAAAAA others(7): Show |
1 | a0001c0001t0002g0117 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.95+38134_95+38147d others(16): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196570067 | ||||||
| chr1:196570067
|
T | TAAAAAAA others(8): Show |
4 | a0001c0001t0001g0101a0001c0001t0002g0113a0001c0001t0002g0118others(1): Show | 4 | HG02818.hp1 HG03669.hp1 HG04115.hp1 others(1): Show |
intron_variant | MODIFIER | c.95+38133_95+38147d others(17): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196570067 | ||||||
| chr1:196570067
|
T | TAAAAAAA others(9): Show |
1 | a0001c0001t0001g0107 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.95+38132_95+38147d others(18): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196570067 | ||||||
| chr1:196570067
|
T | TAAAAAAA others(11): Show |
2 | a0001c0001t0001g0084a0001c0001t0002g0114 | 2 | HG03041.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.95+38130_95+38147d others(20): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196570067 | ||||||
| chr1:196570067
|
TAAAAAAA others(8): Show |
T | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.95+38133_95+38147d others(17): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196570067 | ||||||
| chr1:196570067
|
TAAAAAAA others(9): Show |
T | 8 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(5): Show | 8 | HG00323.hp1 HG01081.hp2 HG02109.hp1 others(5): Show |
intron_variant | MODIFIER | c.95+38132_95+38147d others(18): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196570067 | ||||||
| chr1:196570067
|
TAAAAAAA others(10): Show |
T | 81 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(78): Show | 81 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(78): Show |
intron_variant | MODIFIER | c.95+38131_95+38147d others(19): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196570067 | ||||||
| chr1:196570084
|
A | G | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.95+38131T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196570084 | ||||||
| chr1:196570185
|
A | T | 2 | a0001c0001t0001g0036a0001c0001t0001g0037 | 2 | HG02109.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.95+38030T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196570185 | ||||||
| chr1:196570186
|
C | A | 2 | a0001c0001t0001g0036a0001c0001t0001g0037 | 2 | HG02109.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.95+38029G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196570186 | ||||||
| chr1:196570389
|
G | A | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.95+37826C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196570389 | ||||||
| chr1:196570451
|
G | C | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.95+37764C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196570451 | ||||||
| chr1:196570642
|
A | T | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.95+37573T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196570642 | ||||||
| chr1:196571104
|
T | C | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.95+37111A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196571104 | ||||||
| chr1:196571593
|
G | A | 1 | a0002c0008t0001g0020 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.95+36622C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196571593 | ||||||
| chr1:196571763
|
T | C | 89 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(86): Show | 89 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(86): Show |
intron_variant | MODIFIER | c.95+36452A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196571763 | ||||||
| chr1:196572081
|
G | A | 7 | a0001c0001t0001g0102a0001c0001t0001g0105a0001c0001t0001g0107others(4): Show | 7 | HG02145.hp2 HG02723.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.95+36134C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196572081 | ||||||
| chr1:196572341
|
T | C | 4 | a0001c0001t0002g0030a0001c0001t0002g0031a0001c0001t0002g0032others(1): Show | 4 | HG00741.hp1 HG01168.hp1 HG01346.hp1 others(1): Show |
intron_variant | MODIFIER | c.95+35874A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196572341 | ||||||
| chr1:196572534
|
T | A | 80 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(77): Show | 80 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(77): Show |
intron_variant | MODIFIER | c.95+35681A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196572534 | ||||||
| chr1:196572552
|
T | G | 1 | a0001c0001t0001g0039 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.95+35663A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196572552 | ||||||
| chr1:196572838
|
CAT | C | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.95+35375_95+35376d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196572838 | ||||||
| chr1:196573038
|
G | A | 3 | a0001c0005t0001g0014a0001c0005t0001g0015a0001c0005t0001g0016 | 3 | HG02257.hp1 HG02630.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.95+35177C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196573038 | ||||||
| chr1:196573192
|
C | T | 1 | a0001c0001t0001g0055 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.95+35023G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196573192 | ||||||
| chr1:196573437
|
T | C | 1 | a0001c0001t0001g0057 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.95+34778A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196573437 | ||||||
| chr1:196573484
|
A | G | 1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.95+34731T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196573484 | ||||||
| chr1:196573707
|
G | A | 1 | a0001c0001t0001g0131 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.95+34508C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196573707 | ||||||
| chr1:196573741
|
G | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.95+34474C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196573741 | ||||||
| chr1:196573811
|
A | G | 2 | a0001c0001t0001g0053a0001c0001t0001g0065 | 2 | HG01175.hp2 HG01891.hp2 |
intron_variant | MODIFIER | c.95+34404T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196573811 | ||||||
| chr1:196573837
|
CTT | C | 4 | a0001c0001t0001g0025a0001c0001t0001g0068a0001c0001t0002g0007others(1): Show | 4 | HG00735.hp2 HG01106.hp2 HG01358.hp1 others(1): Show |
intron_variant | MODIFIER | c.95+34376_95+34377d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196573837 | ||||||
| chr1:196574053
|
T | C | 1 | a0001c0001t0001g0130 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.95+34162A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196574053 | ||||||
| chr1:196574629
|
C | T | 1 | a0001c0001t0001g0065 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.95+33586G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196574629 | ||||||
| chr1:196574936
|
C | T | 1 | a0001c0001t0001g0040 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.95+33279G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196574936 | ||||||
| chr1:196575231
|
C | T | 1 | a0001c0001t0010g0097 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.95+32984G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196575231 | ||||||
| chr1:196575733
|
C | CAGCACT | 89 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(86): Show | 89 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(86): Show |
intron_variant | MODIFIER | c.95+32481_95+32482i others(8): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196575733 | ||||||
| chr1:196575807
|
G | A | 16 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(13): Show | 16 | HG02145.hp2 HG02622.hp2 HG02723.hp1 others(13): Show |
intron_variant | MODIFIER | c.95+32408C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196575807 | ||||||
| chr1:196575842
|
G | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.95+32373C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196575842 | ||||||
| chr1:196575972
|
T | A | 2 | a0001c0001t0001g0042a0001c0001t0001g0074 | 2 | NA18990.hp2 NA19062.hp1 |
intron_variant | MODIFIER | c.95+32243A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196575972 | ||||||
| chr1:196575976
|
T | TA | 42 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0036others(39): Show | 42 | HG01109.hp2 HG02109.hp2 HG02145.hp2 others(39): Show |
intron_variant | MODIFIER | c.95+32238dupT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196575976 | ||||||
| chr1:196575976
|
T | TAA | 75 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(72): Show | 75 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(72): Show |
intron_variant | MODIFIER | c.95+32237_95+32238d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196575976 | ||||||
| chr1:196575987
|
A | C | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.95+32228T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196575987 | ||||||
| chr1:196576072
|
T | TTA | 2 | a0001c0001t0001g0128a0001c0001t0001g0129 | 2 | HG02647.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.95+32141_95+32142d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196576072 | ||||||
| chr1:196576072
|
TTA | T | 30 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0090others(27): Show | 30 | HG00323.hp1 HG01081.hp2 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.95+32141_95+32142d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196576072 | ||||||
| chr1:196576072
|
TTATA | T | 79 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(76): Show | 79 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(76): Show |
intron_variant | MODIFIER | c.95+32139_95+32142d others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196576072 | ||||||
| chr1:196576086
|
A | ATG | 8 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(5): Show | 8 | HG02622.hp2 HG02723.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.95+32128_95+32129i others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196576086 | ||||||
| chr1:196576088
|
A | G | 17 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(14): Show | 17 | HG02145.hp2 HG02622.hp2 HG02723.hp1 others(14): Show |
intron_variant | MODIFIER | c.95+32127T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196576088 | ||||||
| chr1:196576090
|
A | G | 38 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0079others(35): Show | 38 | HG01109.hp2 HG02145.hp2 HG02258.hp1 others(35): Show |
intron_variant | MODIFIER | c.95+32125T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196576090 | ||||||
| chr1:196576108
|
G | A | 89 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(86): Show | 89 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(86): Show |
intron_variant | MODIFIER | c.95+32107C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196576108 | ||||||
| chr1:196576110
|
A | G | 16 | a0001c0001t0001g0079a0001c0001t0001g0083a0001c0001t0001g0084others(13): Show | 16 | HG02145.hp2 HG02622.hp2 HG02723.hp1 others(13): Show |
intron_variant | MODIFIER | c.95+32105T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196576110 | ||||||
| chr1:196576245
|
A | T | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.95+31970T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196576245 | ||||||
| chr1:196576437
|
C | T | 2 | a0001c0001t0002g0115a0001c0001t0002g0116 | 2 | HG02258.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.95+31778G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196576437 | ||||||
| chr1:196576727
|
G | A | 2 | a0001c0001t0001g0062a0001c0001t0001g0063 | 2 | HG00741.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.95+31488C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196576727 | ||||||
| chr1:196576736
|
A | G | 7 | a0001c0001t0001g0102a0001c0001t0001g0105a0001c0001t0001g0107others(4): Show | 7 | HG02145.hp2 HG02723.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.95+31479T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196576736 | ||||||
| chr1:196576745
|
A | T | 5 | a0001c0001t0001g0017a0001c0001t0001g0019a0001c0001t0001g0021others(2): Show | 5 | HG00140.hp2 HG00639.hp2 HG01074.hp2 others(2): Show |
intron_variant | MODIFIER | c.95+31470T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196576745 | ||||||
| chr1:196576761
|
T | C | 10 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(7): Show | 10 | HG02257.hp1 HG02630.hp1 HG02717.hp1 others(7): Show |
intron_variant | MODIFIER | c.95+31454A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196576761 | ||||||
| chr1:196577039
|
C | A | 1 | a0001c0001t0001g0064 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.95+31176G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196577039 | ||||||
| chr1:196577056
|
C | A | 1 | a0001c0001t0002g0118 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.95+31159G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196577056 | ||||||
| chr1:196577109
|
T | C | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.95+31106A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196577109 | ||||||
| chr1:196577396
|
T | C | 1 | a0001c0001t0001g0019 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.95+30819A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196577396 | ||||||
| chr1:196577679
|
G | A | 2 | a0001c0001t0001g0039a0001c0001t0003g0035 | 2 | HG02451.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.95+30536C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196577679 | ||||||
| chr1:196577690
|
T | C | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.95+30525A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196577690 | ||||||
| chr1:196577725
|
G | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.95+30490C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196577725 | ||||||
| chr1:196577781
|
T | C | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.95+30434A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196577781 | ||||||
| chr1:196577846
|
A | G | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.95+30369T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196577846 | ||||||
| chr1:196577906
|
C | T | 5 | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0001g0056others(2): Show | 5 | HG01261.hp1 HG01346.hp2 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.95+30309G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196577906 | ||||||
| chr1:196577987
|
T | A | 1 | a0001c0002t0001g0122 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.95+30228A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196577987 | ||||||
| chr1:196578164
|
GAAACCTG others(41): Show |
G | 86 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(83): Show | 86 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(83): Show |
intron_variant | MODIFIER | c.95+30003_95+30050d others(50): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196578164 | ||||||
| chr1:196578295
|
A | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.95+29920T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196578295 | ||||||
| chr1:196578310
|
C | G | 3 | a0001c0001t0001g0003a0001c0001t0001g0090a0001c0007t0001g0091 | 3 | HG02258.hp1 HG02280.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.95+29905G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196578310 | ||||||
| chr1:196578558
|
C | T | 86 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(83): Show | 86 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(83): Show |
intron_variant | MODIFIER | c.95+29657G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196578558 | ||||||
| chr1:196578745
|
A | G | 87 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(84): Show | 87 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(84): Show |
intron_variant | MODIFIER | c.95+29470T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196578745 | ||||||
| chr1:196578799
|
G | A | 127 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(124): Show | 127 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(124): Show |
intron_variant | MODIFIER | c.95+29416C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196578799 | ||||||
| chr1:196579523
|
T | G | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.95+28692A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196579523 | ||||||
| chr1:196579583
|
T | G | 1 | a0001c0001t0001g0075 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.95+28632A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196579583 | ||||||
| chr1:196579586
|
C | T | 1 | a0001c0001t0001g0037 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.95+28629G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196579586 | ||||||
| chr1:196579676
|
A | T | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.95+28539T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196579676 | ||||||
| chr1:196579931
|
A | G | 3 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129 | 3 | HG02647.hp2 HG02809.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.95+28284T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196579931 | ||||||
| chr1:196579966
|
T | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.95+28249A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196579966 | ||||||
| chr1:196580156
|
A | G | 37 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0083others(34): Show | 37 | HG01109.hp2 HG02145.hp2 HG02258.hp1 others(34): Show |
intron_variant | MODIFIER | c.95+28059T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196580156 | ||||||
| chr1:196580834
|
G | C | 1 | a0001c0001t0001g0043 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.95+27381C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196580834 | ||||||
| chr1:196581103
|
T | C | 1 | a0001c0001t0001g0090 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.95+27112A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196581103 | ||||||
| chr1:196581586
|
C | G | 2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.95+26629G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196581586 | ||||||
| chr1:196581672
|
C | G | 1 | a0001c0001t0001g0090 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.95+26543G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196581672 | ||||||
| chr1:196581825
|
C | A | 1 | a0001c0001t0001g0047 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.95+26390G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196581825 | ||||||
| chr1:196581993
|
T | G | 1 | a0001c0001t0001g0041 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.95+26222A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196581993 | ||||||
| chr1:196582017
|
T | G | 1 | a0001c0001t0001g0058 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.95+26198A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196582017 | ||||||
| chr1:196582056
|
A | T | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.95+26159T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196582056 | ||||||
| chr1:196582070
|
C | G | 1 | a0001c0001t0001g0058 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.95+26145G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196582070 | ||||||
| chr1:196582088
|
C | T | 2 | a0001c0001t0003g0082a0001c0003t0008g0081 | 2 | HG01891.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.95+26127G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196582088 | ||||||
| chr1:196582236
|
G | A | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.95+25979C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196582236 | ||||||
| chr1:196582255
|
T | G | 40 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(37): Show | 40 | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(37): Show |
intron_variant | MODIFIER | c.95+25960A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196582255 | ||||||
| chr1:196582789
|
T | C | 15 | a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0085others(12): Show | 15 | HG02145.hp2 HG02622.hp2 HG02723.hp1 others(12): Show |
intron_variant | MODIFIER | c.95+25426A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196582789 | ||||||
| chr1:196582802
|
A | T | 1 | a0001c0001t0001g0045 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.95+25413T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196582802 | ||||||
| chr1:196582865
|
G | T | 1 | a0001c0001t0001g0036 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.95+25350C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196582865 | ||||||
| chr1:196582973
|
G | A | 40 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(37): Show | 40 | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(37): Show |
intron_variant | MODIFIER | c.95+25242C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196582973 | ||||||
| chr1:196583178
|
G | A | 3 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129 | 3 | HG02647.hp2 HG02809.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.95+25037C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196583178 | ||||||
| chr1:196583248
|
G | A | 37 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0083others(34): Show | 37 | HG01109.hp2 HG02145.hp2 HG02258.hp1 others(34): Show |
intron_variant | MODIFIER | c.95+24967C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196583248 | ||||||
| chr1:196583295
|
G | A | 86 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(83): Show | 86 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(83): Show |
intron_variant | MODIFIER | c.95+24920C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196583295 | ||||||
| chr1:196583300
|
C | T | 26 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0017others(23): Show | 26 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(23): Show |
intron_variant | MODIFIER | c.95+24915G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196583300 | ||||||
| chr1:196583672
|
A | G | 1 | a0001c0001t0009g0038 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.95+24543T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196583672 | ||||||
| chr1:196583814
|
T | C | 3 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129 | 3 | HG02647.hp2 HG02809.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.95+24401A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196583814 | ||||||
| chr1:196583991
|
G | A | 133 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(130): Show | 133 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(130): Show |
intron_variant | MODIFIER | c.95+24224C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196583991 | ||||||
| chr1:196584050
|
G | T | 2 | a0001c0001t0001g0011a0001c0001t0001g0012 | 2 | HG02717.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.95+24165C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196584050 | ||||||
| chr1:196584110
|
A | G | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.95+24105T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196584110 | ||||||
| chr1:196584168
|
G | GATAAA | 2 | a0001c0001t0001g0098a0001c0001t0001g0099 | 2 | HG03471.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.95+24042_95+24046d others(7): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196584168 | ||||||
| chr1:196584168
|
G | GATAAAAT others(3): Show |
18 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0090others(15): Show | 18 | HG01109.hp2 HG02109.hp1 HG02145.hp1 others(15): Show |
intron_variant | MODIFIER | c.95+24037_95+24046d others(12): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196584168 | ||||||
| chr1:196584168
|
G | GATAAAAT others(8): Show |
16 | a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0009others(13): Show | 16 | HG00323.hp1 HG01081.hp2 HG02109.hp2 others(13): Show |
intron_variant | MODIFIER | c.95+24032_95+24046d others(17): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196584168 | ||||||
| chr1:196584168
|
G | GATAAAAT others(13): Show |
70 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0017others(67): Show | 70 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(67): Show |
intron_variant | MODIFIER | c.95+24027_95+24046d others(22): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196584168 | ||||||
| chr1:196584168
|
G | GATAAAAT others(18): Show |
18 | a0001c0001t0001g0044a0001c0001t0001g0045a0001c0001t0001g0047others(15): Show | 18 | HG01109.hp1 HG01346.hp2 HG01891.hp2 others(15): Show |
intron_variant | MODIFIER | c.95+24022_95+24046d others(27): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196584168 | ||||||
| chr1:196584168
|
G | GATAAAAT others(23): Show |
4 | a0001c0001t0001g0039a0001c0001t0001g0074a0001c0001t0003g0035others(1): Show | 4 | HG02145.hp2 HG02451.hp1 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.95+24046_95+24047i others(32): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196584168 | ||||||
| chr1:196584168
|
G | GATAAAAT others(28): Show |
1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.95+24046_95+24047i others(37): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196584168 | ||||||
| chr1:196584227
|
T | C | 93 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(90): Show | 93 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(90): Show |
intron_variant | MODIFIER | c.95+23988A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196584227 | ||||||
| chr1:196584323
|
T | C | 1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.95+23892A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196584323 | ||||||
| chr1:196584453
|
A | G | 7 | a0001c0001t0001g0102a0001c0001t0001g0105a0001c0001t0001g0107others(4): Show | 7 | HG02145.hp2 HG02723.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.95+23762T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196584453 | ||||||
| chr1:196584580
|
G | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.95+23635C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196584580 | ||||||
| chr1:196584623
|
T | C | 132 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(129): Show | 132 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(129): Show |
intron_variant | MODIFIER | c.95+23592A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196584623 | ||||||
| chr1:196584910
|
G | A | 3 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129 | 3 | HG02647.hp2 HG02809.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.95+23305C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196584910 | ||||||
| chr1:196585272
|
T | G | 80 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(77): Show | 80 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(77): Show |
intron_variant | MODIFIER | c.95+22943A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196585272 | ||||||
| chr1:196585324
|
G | C | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.95+22891C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196585324 | ||||||
| chr1:196585488
|
C | T | 5 | a0001c0001t0002g0048a0001c0001t0002g0049a0001c0001t0002g0050others(2): Show | 5 | HG00639.hp1 HG01074.hp1 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.95+22727G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196585488 | ||||||
| chr1:196585543
|
G | A | 1 | a0001c0001t0001g0068 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.95+22672C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196585543 | ||||||
| chr1:196585600
|
TA | T | 40 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(37): Show | 40 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(37): Show |
intron_variant | MODIFIER | c.95+22614delT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196585600 | ||||||
| chr1:196585613
|
T | C | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.95+22602A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196585613 | ||||||
| chr1:196585890
|
G | A | 40 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(37): Show | 40 | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(37): Show |
intron_variant | MODIFIER | c.95+22325C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196585890 | ||||||
| chr1:196586533
|
G | A | 1 | a0001c0001t0001g0010 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.95+21682C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196586533 | ||||||
| chr1:196586724
|
AC | A | 37 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0083others(34): Show | 37 | HG01109.hp2 HG02145.hp2 HG02258.hp1 others(34): Show |
intron_variant | MODIFIER | c.95+21490delG | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196586724 | ||||||
| chr1:196586739
|
G | C | 86 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(83): Show | 86 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(83): Show |
intron_variant | MODIFIER | c.95+21476C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196586739 | ||||||
| chr1:196586823
|
T | A | 7 | a0001c0001t0001g0102a0001c0001t0001g0105a0001c0001t0001g0107others(4): Show | 7 | HG02145.hp2 HG02723.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.95+21392A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196586823 | ||||||
| chr1:196586983
|
C | T | 1 | a0002c0008t0001g0020 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.95+21232G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196586983 | ||||||
| chr1:196587113
|
A | G | 129 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(126): Show | 129 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(126): Show |
intron_variant | MODIFIER | c.95+21102T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196587113 | ||||||
| chr1:196587169
|
G | A | 86 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(83): Show | 86 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(83): Show |
intron_variant | MODIFIER | c.95+21046C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196587169 | ||||||
| chr1:196587230
|
C | T | 1 | a0001c0001t0001g0043 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.95+20985G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196587230 | ||||||
| chr1:196587272
|
T | C | 3 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129 | 3 | HG02647.hp2 HG02809.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.95+20943A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196587272 | ||||||
| chr1:196587296
|
C | T | 2 | a0001c0001t0001g0039a0001c0001t0003g0035 | 2 | HG02451.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.95+20919G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196587296 | ||||||
| chr1:196587502
|
C | A | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.95+20713G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196587502 | ||||||
| chr1:196587514
|
G | A | 8 | a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0085others(5): Show | 8 | HG02622.hp2 HG02723.hp2 HG02818.hp1 others(5): Show |
intron_variant | MODIFIER | c.95+20701C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196587514 | ||||||
| chr1:196587671
|
GA | G | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.95+20543delT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196587671 | ||||||
| chr1:196587794
|
C | T | 40 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0083others(37): Show | 40 | HG01109.hp2 HG02145.hp2 HG02258.hp1 others(37): Show |
intron_variant | MODIFIER | c.95+20421G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196587794 | ||||||
| chr1:196587983
|
T | C | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.95+20232A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196587983 | ||||||
| chr1:196588026
|
A | G | 1 | a0001c0001t0001g0090 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.95+20189T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196588026 | ||||||
| chr1:196588116
|
C | T | 3 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129 | 3 | HG02647.hp2 HG02809.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.95+20099G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196588116 | ||||||
| chr1:196588199
|
A | C | 40 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0083others(37): Show | 40 | HG01109.hp2 HG02145.hp2 HG02258.hp1 others(37): Show |
intron_variant | MODIFIER | c.95+20016T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196588199 | ||||||
| chr1:196588259
|
T | C | 1 | a0001c0001t0001g0070 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.95+19956A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196588259 | ||||||
| chr1:196588271
|
G | GA | 80 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(77): Show | 80 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(77): Show |
intron_variant | MODIFIER | c.95+19943dupT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196588271 | ||||||
| chr1:196588272
|
A | G | 2 | a0001c0001t0003g0082a0001c0003t0008g0081 | 2 | HG01891.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.95+19943T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196588272 | ||||||
| chr1:196588414
|
G | A | 1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.95+19801C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196588414 | ||||||
| chr1:196588420
|
T | C | 3 | a0001c0005t0001g0014a0001c0005t0001g0015a0001c0005t0001g0016 | 3 | HG02257.hp1 HG02630.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.95+19795A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196588420 | ||||||
| chr1:196588634
|
T | A | 129 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(126): Show | 129 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(126): Show |
intron_variant | MODIFIER | c.95+19581A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196588634 | ||||||
| chr1:196588768
|
ATAATACA others(5): Show |
A | 80 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(77): Show | 80 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(77): Show |
intron_variant | MODIFIER | c.95+19435_95+19446d others(14): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196588768 | ||||||
| chr1:196588885
|
G | A | 1 | a0001c0001t0002g0116 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.95+19330C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196588885 | ||||||
| chr1:196589106
|
G | A | 1 | a0001c0001t0002g0026 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.95+19109C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196589106 | ||||||
| chr1:196589229
|
A | G | 2 | a0001c0001t0002g0048a0001c0001t0002g0076 | 2 | HG02809.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.95+18986T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196589229 | ||||||
| chr1:196589264
|
A | AGT | 75 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0009others(72): Show | 75 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(72): Show |
intron_variant | MODIFIER | c.95+18949_95+18950d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196589264 | ||||||
| chr1:196589264
|
A | AGTGT | 3 | a0001c0001t0001g0005a0001c0001t0001g0027a0001c0001t0001g0044 | 3 | HG00673.hp2 HG01109.hp1 NA18984.hp1 |
intron_variant | MODIFIER | c.95+18947_95+18950d others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196589264 | ||||||
| chr1:196589341
|
G | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.95+18874C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196589341 | ||||||
| chr1:196589665
|
T | C | 2 | a0001c0001t0002g0113a0001c0001t0002g0117 | 2 | HG03834.hp2 HG04115.hp1 |
intron_variant | MODIFIER | c.95+18550A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196589665 | ||||||
| chr1:196589826
|
TAC | T | 80 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(77): Show | 80 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(77): Show |
intron_variant | MODIFIER | c.95+18387_95+18388d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196589826 | ||||||
| chr1:196590125
|
C | T | 1 | a0001c0001t0001g0120 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.95+18090G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196590125 | ||||||
| chr1:196590201
|
G | A | 2 | a0001c0001t0001g0039a0001c0001t0003g0035 | 2 | HG02451.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.95+18014C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196590201 | ||||||
| chr1:196590456
|
A | G | 86 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(83): Show | 86 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(83): Show |
intron_variant | MODIFIER | c.95+17759T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196590456 | ||||||
| chr1:196590466
|
G | A | 2 | a0001c0001t0001g0011a0001c0001t0001g0012 | 2 | HG02717.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.95+17749C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196590466 | ||||||
| chr1:196590716
|
A | T | 37 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0083others(34): Show | 37 | HG01109.hp2 HG02145.hp2 HG02258.hp1 others(34): Show |
intron_variant | MODIFIER | c.95+17499T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196590716 | ||||||
| chr1:196590934
|
T | C | 1 | a0001c0001t0001g0037 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.95+17281A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196590934 | ||||||
| chr1:196591256
|
A | T | 131 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(128): Show | 131 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(128): Show |
intron_variant | MODIFIER | c.95+16959T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196591256 | ||||||
| chr1:196591417
|
A | C | 1 | a0001c0001t0001g0019 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.95+16798T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196591417 | ||||||
| chr1:196591992
|
T | C | 40 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0083others(37): Show | 40 | HG01109.hp2 HG02145.hp2 HG02258.hp1 others(37): Show |
intron_variant | MODIFIER | c.95+16223A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196591992 | ||||||
| chr1:196592042
|
A | T | 1 | a0001c0001t0001g0057 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.95+16173T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196592042 | ||||||
| chr1:196592188
|
A | T | 1 | a0001c0001t0001g0044 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.95+16027T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196592188 | ||||||
| chr1:196592227
|
C | G | 1 | a0001c0001t0001g0057 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.95+15988G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196592227 | ||||||
| chr1:196592525
|
TAA | T | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.95+15688_95+15689d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196592525 | ||||||
| chr1:196592691
|
ATATG | A | 40 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(37): Show | 40 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(37): Show |
intron_variant | MODIFIER | c.95+15520_95+15523d others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196592691 | ||||||
| chr1:196592734
|
T | C | 86 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(83): Show | 86 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(83): Show |
intron_variant | MODIFIER | c.95+15481A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196592734 | ||||||
| chr1:196592739
|
A | G | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.95+15476T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196592739 | ||||||
| chr1:196592828
|
T | A | 2 | a0001c0001t0001g0098a0001c0001t0001g0099 | 2 | HG03471.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.95+15387A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196592828 | ||||||
| chr1:196592891
|
T | C | 37 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0083others(34): Show | 37 | HG01109.hp2 HG02145.hp2 HG02258.hp1 others(34): Show |
intron_variant | MODIFIER | c.95+15324A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196592891 | ||||||
| chr1:196592895
|
T | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.95+15320A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196592895 | ||||||
| chr1:196593110
|
C | G | 1 | a0001c0003t0001g0108 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.95+15105G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196593110 | ||||||
| chr1:196593166
|
C | T | 1 | a0001c0001t0001g0018 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.95+15049G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196593166 | ||||||
| chr1:196593213
|
T | A | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.95+15002A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196593213 | ||||||
| chr1:196593295
|
A | AAT | 58 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(55): Show | 58 | HG00140.hp1 HG00140.hp2 HG00639.hp2 others(55): Show |
intron_variant | MODIFIER | c.95+14918_95+14919d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196593295 | ||||||
| chr1:196593295
|
A | AATAT | 8 | a0001c0001t0001g0027a0001c0001t0001g0056a0001c0001t0001g0071others(5): Show | 8 | HG01261.hp1 HG01496.hp1 HG01981.hp1 others(5): Show |
intron_variant | MODIFIER | c.95+14916_95+14919d others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196593295 | ||||||
| chr1:196593295
|
A | AATATAT | 2 | a0001c0001t0001g0127a0001c0001t0001g0128 | 2 | HG02809.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.95+14914_95+14919d others(8): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196593295 | ||||||
| chr1:196593295
|
A | T | 1 | a0001c0001t0001g0040 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.95+14920T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196593295 | ||||||
| chr1:196593309
|
T | TACACACA others(1): Show |
5 | a0001c0001t0001g0102a0001c0001t0001g0107a0001c0001t0003g0103others(2): Show | 5 | HG02723.hp1 HG03130.hp2 HG06807.hp2 others(2): Show |
intron_variant | MODIFIER | c.95+14905_95+14906i others(10): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196593309 | ||||||
| chr1:196593309
|
T | TACACACA others(3): Show |
2 | a0001c0001t0001g0105a0001c0001t0003g0104 | 2 | HG02145.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.95+14905_95+14906i others(12): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196593309 | ||||||
| chr1:196593311
|
T | C | 7 | a0001c0001t0001g0102a0001c0001t0001g0105a0001c0001t0001g0107others(4): Show | 7 | HG02145.hp2 HG02723.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.95+14904A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196593311 | ||||||
| chr1:196593311
|
T | TAC | 4 | a0001c0001t0001g0090a0001c0001t0002g0048a0001c0001t0002g0076others(1): Show | 4 | HG02165.hp2 HG02258.hp1 HG02809.hp2 others(1): Show |
intron_variant | MODIFIER | c.95+14902_95+14903d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196593311 | ||||||
| chr1:196593311
|
T | TACACAC | 4 | a0001c0001t0001g0095a0001c0001t0001g0096a0001c0001t0002g0114others(1): Show | 4 | HG01109.hp2 HG02258.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.95+14898_95+14903d others(8): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196593311 | ||||||
| chr1:196593311
|
T | TACACACA others(1): Show |
3 | a0001c0001t0002g0113a0001c0001t0002g0116a0001c0001t0002g0118 | 3 | HG02647.hp1 HG04115.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.95+14896_95+14903d others(10): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196593311 | ||||||
| chr1:196593311
|
T | TACACACA others(3): Show |
1 | a0001c0001t0007g0119 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.95+14894_95+14903d others(12): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196593311 | ||||||
| chr1:196593311
|
T | TATACAC | 3 | a0001c0001t0001g0088a0001c0001t0001g0093a0001c0001t0001g0101 | 3 | HG02723.hp2 HG02818.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.95+14903_95+14904i others(8): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196593311 | ||||||
| chr1:196593311
|
T | TATACACA others(1): Show |
11 | a0001c0001t0001g0083a0001c0001t0001g0085a0001c0001t0001g0086others(8): Show | 11 | HG02280.hp1 HG02572.hp1 HG02622.hp2 others(8): Show |
intron_variant | MODIFIER | c.95+14903_95+14904i others(10): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196593311 | ||||||
| chr1:196593311
|
T | TATACACA others(3): Show |
1 | a0001c0001t0001g0003 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.95+14903_95+14904i others(12): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196593311 | ||||||
| chr1:196593311
|
T | TATATATA others(1): Show |
2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.95+14903_95+14904i others(10): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196593311 | ||||||
| chr1:196593311
|
T | TATATATA others(7): Show |
1 | a0001c0002t0001g0122 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.95+14903_95+14904i others(16): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196593311 | ||||||
| chr1:196593311
|
T | TATATATA others(7): Show |
3 | a0001c0002t0001g0121a0001c0002t0001g0124a0001c0002t0001g0126 | 3 | HG02109.hp1 HG02145.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.95+14903_95+14904i others(16): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196593311 | ||||||
| chr1:196593311
|
T | TATATATA others(9): Show |
2 | a0001c0002t0001g0123a0001c0002t0001g0125 | 2 | HG02622.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.95+14903_95+14904i others(18): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196593311 | ||||||
| chr1:196593311
|
TACAC | T | 2 | a0001c0004t0004g0132a0001c0004t0004g0133 | 2 | HG00323.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.95+14900_95+14903d others(6): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196593311 | ||||||
| chr1:196593311
|
TACACAC | T | 3 | a0001c0001t0001g0039a0001c0001t0003g0035a0001c0001t0009g0038 | 3 | HG02451.hp1 HG03225.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.95+14898_95+14903d others(8): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196593311 | ||||||
| chr1:196593313
|
C | T | 73 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(70): Show | 73 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(70): Show |
intron_variant | MODIFIER | c.95+14902G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196593313 | ||||||
| chr1:196593315
|
C | T | 36 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(33): Show | 36 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(33): Show |
intron_variant | MODIFIER | c.95+14900G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196593315 | ||||||
| chr1:196593317
|
C | T | 1 | a0001c0001t0001g0036 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.95+14898G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196593317 | ||||||
| chr1:196593319
|
C | T | 3 | a0001c0001t0001g0039a0001c0001t0003g0035a0001c0001t0009g0038 | 3 | HG02451.hp1 HG03225.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.95+14896G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196593319 | ||||||
| chr1:196593321
|
C | T | 3 | a0001c0001t0001g0039a0001c0001t0003g0035a0001c0001t0009g0038 | 3 | HG02451.hp1 HG03225.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.95+14894G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196593321 | ||||||
| chr1:196593343
|
T | C | 2 | a0001c0002t0001g0125a0001c0004t0004g0002 | 2 | HG02165.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.95+14872A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196593343 | ||||||
| chr1:196593402
|
G | A | 1 | a0001c0001t0001g0072 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.95+14813C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196593402 | ||||||
| chr1:196593593
|
A | G | 80 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(77): Show | 80 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(77): Show |
intron_variant | MODIFIER | c.95+14622T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196593593 | ||||||
| chr1:196593774
|
T | C | 37 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0083others(34): Show | 37 | HG01109.hp2 HG02145.hp2 HG02258.hp1 others(34): Show |
intron_variant | MODIFIER | c.95+14441A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196593774 | ||||||
| chr1:196594014
|
G | T | 86 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(83): Show | 86 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(83): Show |
intron_variant | MODIFIER | c.95+14201C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196594014 | ||||||
| chr1:196594078
|
T | C | 2 | a0001c0001t0003g0082a0001c0003t0008g0081 | 2 | HG01891.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.95+14137A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196594078 | ||||||
| chr1:196594094
|
C | T | 1 | a0001c0001t0001g0004 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.95+14121G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196594094 | ||||||
| chr1:196594206
|
G | A | 1 | a0001c0001t0001g0073 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.95+14009C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196594206 | ||||||
| chr1:196594211
|
A | G | 1 | a0001c0001t0001g0047 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.95+14004T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196594211 | ||||||
| chr1:196594651
|
A | C | 1 | a0001c0001t0001g0004 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.95+13564T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196594651 | ||||||
| chr1:196595074
|
A | G | 1 | a0001c0001t0001g0017 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.95+13141T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196595074 | ||||||
| chr1:196595295
|
C | T | 3 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129 | 3 | HG02647.hp2 HG02809.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.95+12920G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196595295 | ||||||
| chr1:196595430
|
T | C | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.95+12785A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196595430 | ||||||
| chr1:196595500
|
G | A | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.95+12715C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196595500 | ||||||
| chr1:196595675
|
T | C | 40 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(37): Show | 40 | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(37): Show |
intron_variant | MODIFIER | c.95+12540A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196595675 | ||||||
| chr1:196595691
|
T | C | 37 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0083others(34): Show | 37 | HG01109.hp2 HG02145.hp2 HG02258.hp1 others(34): Show |
intron_variant | MODIFIER | c.95+12524A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196595691 | ||||||
| chr1:196595783
|
C | T | 37 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0083others(34): Show | 37 | HG01109.hp2 HG02145.hp2 HG02258.hp1 others(34): Show |
intron_variant | MODIFIER | c.95+12432G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196595783 | ||||||
| chr1:196595817
|
T | G | 40 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(37): Show | 40 | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(37): Show |
intron_variant | MODIFIER | c.95+12398A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196595817 | ||||||
| chr1:196596052
|
ATG | A | 2 | a0001c0002t0001g0124a0001c0002t0001g0125 | 2 | HG02109.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.95+12161_95+12162d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196596052 | ||||||
| chr1:196596054
|
G | GTA | 3 | a0001c0001t0001g0101a0001c0002t0001g0121a0001c0002t0001g0126 | 3 | HG02145.hp1 HG02818.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.95+12160_95+12161i others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196596054 | ||||||
| chr1:196596054
|
G | GTATATA | 2 | a0001c0001t0001g0120a0001c0001t0003g0089 | 2 | HG03041.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.95+12160_95+12161i others(8): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196596054 | ||||||
| chr1:196596054
|
G | GTATATAT others(1): Show |
3 | a0001c0001t0001g0084a0001c0001t0001g0085a0001c0001t0007g0119 | 3 | HG03041.hp2 HG03225.hp1 HG03669.hp1 |
intron_variant | MODIFIER | c.95+12160_95+12161i others(10): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196596054 | ||||||
| chr1:196596054
|
G | GTATATAT others(3): Show |
3 | a0001c0001t0002g0114a0001c0001t0003g0103a0001c0001t0003g0104 | 3 | HG02145.hp2 HG02723.hp1 HG04228.hp1 |
intron_variant | MODIFIER | c.95+12160_95+12161i others(12): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196596054 | ||||||
| chr1:196596054
|
G | GTATATAT others(5): Show |
2 | a0001c0001t0001g0083a0001c0001t0001g0105 | 2 | HG02622.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.95+12160_95+12161i others(14): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196596054 | ||||||
| chr1:196596054
|
G | GTATATAT others(7): Show |
1 | a0001c0001t0002g0118 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.95+12160_95+12161i others(16): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196596054 | ||||||
| chr1:196596054
|
G | GTATATAT others(9): Show |
2 | a0001c0001t0001g0086a0001c0001t0005g0106 | 2 | HG03130.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.95+12160_95+12161i others(18): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196596054 | ||||||
| chr1:196596054
|
G | GTATATAT others(11): Show |
2 | a0001c0001t0001g0087a0001c0001t0005g0100 | 2 | HG03579.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.95+12160_95+12161i others(20): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196596054 | ||||||
| chr1:196596054
|
G | GTATATAT others(13): Show |
1 | a0001c0001t0001g0088 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.95+12160_95+12161i others(22): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196596054 | ||||||
| chr1:196596054
|
G | GTATATAT others(15): Show |
1 | a0001c0001t0001g0107 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.95+12160_95+12161i others(24): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196596054 | ||||||
| chr1:196596054
|
GTGTATAT others(5): Show |
G | 2 | a0001c0001t0002g0115a0001c0001t0002g0116 | 2 | HG02258.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.95+12149_95+12160d others(14): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196596054 | ||||||
| chr1:196596054
|
GTGTATAT others(11): Show |
G | 1 | a0001c0001t0002g0034 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.95+12143_95+12160d others(20): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196596054 | ||||||
| chr1:196596054
|
GTGTATAT others(15): Show |
G | 2 | a0001c0001t0002g0007a0001c0001t0002g0033 | 2 | HG00735.hp2 HG01106.hp2 |
intron_variant | MODIFIER | c.95+12139_95+12160d others(24): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196596054 | ||||||
| chr1:196596054
|
GTGTATAT others(17): Show |
G | 30 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(27): Show | 30 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(27): Show |
intron_variant | MODIFIER | c.95+12137_95+12160d others(26): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196596054 | ||||||
| chr1:196596054
|
GTGTATAT others(19): Show |
G | 47 | a0001c0001t0001g0013a0001c0001t0001g0036a0001c0001t0001g0037others(44): Show | 47 | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(44): Show |
intron_variant | MODIFIER | c.95+12135_95+12160d others(28): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196596054 | ||||||
| chr1:196596054
|
GTGTATAT others(21): Show |
G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.95+12133_95+12160d others(30): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196596054 | ||||||
| chr1:196596054
|
GTGTATAT others(23): Show |
G | 6 | a0001c0001t0001g0003a0001c0001t0001g0090a0001c0001t0001g0127others(3): Show | 6 | HG02258.hp1 HG02280.hp1 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.95+12131_95+12160d others(32): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196596054 | ||||||
| chr1:196596056
|
G | A | 24 | a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0085others(21): Show | 24 | HG02145.hp1 HG02145.hp2 HG02622.hp2 others(21): Show |
intron_variant | MODIFIER | c.95+12159C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196596056 | ||||||
| chr1:196596056
|
G | GTATATAT others(3): Show |
2 | a0001c0001t0001g0093a0001c0003t0001g0111 | 2 | HG02818.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.95+12149_95+12158d others(12): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196596056 | ||||||
| chr1:196596056
|
G | GTATATAT others(5): Show |
1 | a0001c0001t0001g0102 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.95+12147_95+12158d others(14): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196596056 | ||||||
| chr1:196596056
|
G | GTATATAT others(7): Show |
1 | a0001c0001t0001g0094 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.95+12145_95+12158d others(16): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196596056 | ||||||
| chr1:196596056
|
G | GTATATAT others(9): Show |
1 | a0001c0001t0003g0082 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.95+12143_95+12158d others(18): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196596056 | ||||||
| chr1:196596056
|
G | GTATATAT others(11): Show |
2 | a0001c0001t0001g0095a0001c0001t0001g0096 | 2 | HG01109.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.95+12141_95+12158d others(20): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196596056 | ||||||
| chr1:196596056
|
G | GTATATAT others(13): Show |
2 | a0001c0001t0001g0004a0001c0001t0001g0092 | 2 | HG02897.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.95+12139_95+12158d others(22): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196596056 | ||||||
| chr1:196596056
|
G | GTATATAT others(15): Show |
1 | a0001c0001t0010g0097 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.95+12137_95+12158d others(24): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196596056 | ||||||
| chr1:196596056
|
G | GTATATAT others(19): Show |
1 | a0001c0003t0001g0112 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.95+12133_95+12158d others(28): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196596056 | ||||||
| chr1:196596056
|
GTA | G | 3 | a0001c0003t0001g0108a0001c0003t0001g0109a0001c0003t0008g0081 | 3 | HG01891.hp1 HG02280.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.95+12157_95+12158d others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196596056 | ||||||
| chr1:196596056
|
GTATATAT others(7): Show |
G | 2 | a0001c0001t0001g0098a0001c0001t0001g0099 | 2 | HG03471.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.95+12145_95+12158d others(16): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196596056 | ||||||
| chr1:196596071
|
TATATATA others(24): Show |
T | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.95+12113_95+12143d others(33): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196596071 | ||||||
| chr1:196596121
|
T | G | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.95+12094A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196596121 | ||||||
| chr1:196596161
|
A | C | 35 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(32): Show | 35 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(32): Show |
intron_variant | MODIFIER | c.95+12054T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196596161 | ||||||
| chr1:196596448
|
T | C | 1 | a0001c0001t0001g0046 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.95+11767A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196596448 | ||||||
| chr1:196596568
|
A | G | 1 | a0001c0001t0001g0052 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.95+11647T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196596568 | ||||||
| chr1:196596647
|
A | C | 1 | a0001c0001t0001g0130 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.95+11568T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196596647 | ||||||
| chr1:196596800
|
G | A | 1 | a0001c0001t0007g0119 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.95+11415C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196596800 | ||||||
| chr1:196597037
|
C | G | 2 | a0001c0001t0002g0048a0001c0001t0002g0076 | 2 | HG02809.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.95+11178G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196597037 | ||||||
| chr1:196597208
|
A | C | 1 | a0001c0001t0001g0042 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.95+11007T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196597208 | ||||||
| chr1:196597268
|
T | TA | 48 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0036others(45): Show | 48 | HG01109.hp2 HG02109.hp1 HG02109.hp2 others(45): Show |
intron_variant | MODIFIER | c.95+10946dupT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196597268 | ||||||
| chr1:196597330
|
T | C | 1 | a0001c0001t0001g0036 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.95+10885A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196597330 | ||||||
| chr1:196597371
|
CT | C | 8 | a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0085others(5): Show | 8 | HG02622.hp2 HG02723.hp2 HG02818.hp1 others(5): Show |
intron_variant | MODIFIER | c.95+10843delA | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196597371 | ||||||
| chr1:196597390
|
G | A | 129 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(126): Show | 129 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(126): Show |
intron_variant | MODIFIER | c.95+10825C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196597390 | ||||||
| chr1:196597571
|
T | C | 129 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(126): Show | 129 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(126): Show |
intron_variant | MODIFIER | c.95+10644A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196597571 | ||||||
| chr1:196597899
|
TATG | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.95+10313_95+10315d others(5): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196597899 | ||||||
| chr1:196597901
|
T | C | 1 | a0001c0001t0003g0089 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.95+10314A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196597901 | ||||||
| chr1:196598078
|
G | A | 1 | a0001c0001t0001g0037 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.95+10137C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196598078 | ||||||
| chr1:196598467
|
A | C | 40 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(37): Show | 40 | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(37): Show |
intron_variant | MODIFIER | c.95+9748T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196598467 | ||||||
| chr1:196598483
|
A | G | 3 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129 | 3 | HG02647.hp2 HG02809.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.95+9732T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196598483 | ||||||
| chr1:196598567
|
G | A | 86 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(83): Show | 86 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(83): Show |
intron_variant | MODIFIER | c.95+9648C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196598567 | ||||||
| chr1:196598581
|
A | T | 37 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0083others(34): Show | 37 | HG01109.hp2 HG02145.hp2 HG02258.hp1 others(34): Show |
intron_variant | MODIFIER | c.95+9634T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196598581 | ||||||
| chr1:196598585
|
C | T | 3 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129 | 3 | HG02647.hp2 HG02809.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.95+9630G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196598585 | ||||||
| chr1:196598603
|
T | C | 1 | a0001c0001t0001g0047 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.95+9612A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196598603 | ||||||
| chr1:196598708
|
G | A | 7 | a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0085others(4): Show | 7 | HG02622.hp2 HG02723.hp2 HG03041.hp2 others(4): Show |
intron_variant | MODIFIER | c.95+9507C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196598708 | ||||||
| chr1:196598744
|
C | A | 37 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0083others(34): Show | 37 | HG01109.hp2 HG02145.hp2 HG02258.hp1 others(34): Show |
intron_variant | MODIFIER | c.95+9471G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196598744 | ||||||
| chr1:196599140
|
G | T | 80 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(77): Show | 80 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(77): Show |
intron_variant | MODIFIER | c.95+9075C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196599140 | ||||||
| chr1:196599270
|
A | C | 5 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(2): Show | 5 | HG02717.hp1 HG02886.hp1 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.95+8945T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196599270 | ||||||
| chr1:196599564
|
C | T | 40 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(37): Show | 40 | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(37): Show |
intron_variant | MODIFIER | c.95+8651G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196599564 | ||||||
| chr1:196599566
|
G | A | 37 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0083others(34): Show | 37 | HG01109.hp2 HG02145.hp2 HG02258.hp1 others(34): Show |
intron_variant | MODIFIER | c.95+8649C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196599566 | ||||||
| chr1:196599632
|
C | T | 1 | a0001c0001t0001g0101 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.95+8583G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196599632 | ||||||
| chr1:196599860
|
A | T | 3 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129 | 3 | HG02647.hp2 HG02809.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.95+8355T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196599860 | ||||||
| chr1:196600026
|
A | G | 129 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(126): Show | 129 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(126): Show |
intron_variant | MODIFIER | c.95+8189T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196600026 | ||||||
| chr1:196600524
|
C | CA | 129 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(126): Show | 129 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(126): Show |
intron_variant | MODIFIER | c.95+7690dupT | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196600524 | ||||||
| chr1:196600541
|
G | C | 1 | a0001c0001t0001g0046 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.95+7674C>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196600541 | ||||||
| chr1:196600551
|
C | T | 35 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(32): Show | 35 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(32): Show |
intron_variant | MODIFIER | c.95+7664G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196600551 | ||||||
| chr1:196600664
|
A | ATGTT | 129 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(126): Show | 129 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(126): Show |
intron_variant | MODIFIER | c.95+7550_95+7551ins others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196600664 | ||||||
| chr1:196601078
|
A | G | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.95+7137T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196601078 | ||||||
| chr1:196601160
|
C | A | 3 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129 | 3 | HG02647.hp2 HG02809.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.95+7055G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196601160 | ||||||
| chr1:196601425
|
A | G | 3 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129 | 3 | HG02647.hp2 HG02809.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.95+6790T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196601425 | ||||||
| chr1:196601502
|
C | T | 1 | a0001c0001t0001g0107 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.95+6713G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196601502 | ||||||
| chr1:196601557
|
A | G | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.95+6658T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196601557 | ||||||
| chr1:196601576
|
A | G | 40 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(37): Show | 40 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(37): Show |
intron_variant | MODIFIER | c.95+6639T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196601576 | ||||||
| chr1:196601831
|
T | C | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.95+6384A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196601831 | ||||||
| chr1:196601850
|
T | C | 7 | a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0085others(4): Show | 7 | HG02622.hp2 HG02723.hp2 HG03041.hp2 others(4): Show |
intron_variant | MODIFIER | c.95+6365A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196601850 | ||||||
| chr1:196602071
|
T | G | 4 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0095others(1): Show | 4 | HG01109.hp2 HG02818.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.95+6144A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196602071 | ||||||
| chr1:196602138
|
C | T | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.95+6077G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196602138 | ||||||
| chr1:196602254
|
G | T | 1 | a0001c0002t0001g0122 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.95+5961C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196602254 | ||||||
| chr1:196602265
|
A | G | 5 | a0001c0001t0002g0048a0001c0001t0002g0049a0001c0001t0002g0050others(2): Show | 5 | HG00639.hp1 HG01074.hp1 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.95+5950T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196602265 | ||||||
| chr1:196602312
|
A | T | 1 | a0001c0001t0001g0083 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.95+5903T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196602312 | ||||||
| chr1:196602679
|
T | C | 1 | a0001c0001t0001g0075 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.95+5536A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196602679 | ||||||
| chr1:196602709
|
A | G | 1 | a0001c0001t0001g0047 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.95+5506T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196602709 | ||||||
| chr1:196602770
|
A | AT | 21 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0090others(18): Show | 21 | HG00323.hp1 HG01081.hp2 HG01109.hp2 others(18): Show |
intron_variant | MODIFIER | c.95+5444dupA | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196602770 | ||||||
| chr1:196602770
|
A | ATT | 9 | a0001c0001t0001g0098a0001c0001t0001g0130a0001c0001t0001g0131others(6): Show | 9 | HG02258.hp2 HG02647.hp1 HG03471.hp2 others(6): Show |
intron_variant | MODIFIER | c.95+5443_95+5444dup others(2): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196602770 | ||||||
| chr1:196602770
|
A | ATTT | 10 | a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0085others(7): Show | 10 | HG02572.hp1 HG02622.hp2 HG02723.hp2 others(7): Show |
intron_variant | MODIFIER | c.95+5442_95+5444dup others(3): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196602770 | ||||||
| chr1:196602770
|
ATT | A | 11 | a0001c0001t0001g0042a0001c0001t0001g0043a0001c0001t0001g0044others(8): Show | 11 | HG01106.hp1 HG01106.hp2 HG01109.hp1 others(8): Show |
intron_variant | MODIFIER | c.95+5443_95+5444del others(2): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196602770 | ||||||
| chr1:196602770
|
ATTT | A | 67 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0009others(64): Show | 67 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(64): Show |
intron_variant | MODIFIER | c.95+5442_95+5444del others(3): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196602770 | ||||||
| chr1:196602770
|
ATTTT | A | 6 | a0001c0001t0001g0039a0001c0001t0001g0077a0001c0001t0001g0078others(3): Show | 6 | HG02809.hp2 HG02965.hp1 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.95+5441_95+5444del others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196602770 | ||||||
| chr1:196602976
|
C | T | 1 | a0001c0001t0001g0041 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.95+5239G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196602976 | ||||||
| chr1:196603008
|
G | A | 1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.95+5207C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196603008 | ||||||
| chr1:196603078
|
G | A | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG03486.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.95+5137C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196603078 | ||||||
| chr1:196603168
|
C | T | 86 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(83): Show | 86 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(83): Show |
intron_variant | MODIFIER | c.95+5047G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196603168 | ||||||
| chr1:196603269
|
G | A | 1 | a0001c0001t0001g0040 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.95+4946C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196603269 | ||||||
| chr1:196603693
|
G | A | 129 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(126): Show | 129 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(126): Show |
intron_variant | MODIFIER | c.95+4522C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196603693 | ||||||
| chr1:196603746
|
C | CTTAA | 86 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(83): Show | 86 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(83): Show |
intron_variant | MODIFIER | c.95+4465_95+4468dup others(4): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196603746 | ||||||
| chr1:196603971
|
G | A | 3 | a0001c0001t0001g0098a0001c0001t0001g0099a0001c0001t0010g0097 | 3 | HG02572.hp1 HG03471.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.95+4244C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196603971 | ||||||
| chr1:196604057
|
G | A | 80 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(77): Show | 80 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(77): Show |
intron_variant | MODIFIER | c.95+4158C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604057 | ||||||
| chr1:196604229
|
A | T | 7 | a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0085others(4): Show | 7 | HG02622.hp2 HG02723.hp2 HG03041.hp2 others(4): Show |
intron_variant | MODIFIER | c.95+3986T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604229 | ||||||
| chr1:196604294
|
G | T | 1 | a0001c0001t0001g0134 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.95+3921C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604294 | ||||||
| chr1:196604302
|
G | A | 6 | a0001c0002t0001g0121a0001c0002t0001g0122a0001c0002t0001g0123others(3): Show | 6 | HG02109.hp1 HG02145.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.95+3913C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604302 | ||||||
| chr1:196604375
|
A | T | 40 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(37): Show | 40 | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(37): Show |
intron_variant | MODIFIER | c.95+3840T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604375 | ||||||
| chr1:196604578
|
T | A | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3637A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604578 | ||||||
| chr1:196604580
|
C | T | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3635G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604580 | ||||||
| chr1:196604582
|
C | T | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3633G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604582 | ||||||
| chr1:196604584
|
G | A | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3631C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604584 | ||||||
| chr1:196604585
|
C | A | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3630G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604585 | ||||||
| chr1:196604587
|
C | T | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3628G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604587 | ||||||
| chr1:196604590
|
C | T | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3625G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604590 | ||||||
| chr1:196604592
|
G | T | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3623C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604592 | ||||||
| chr1:196604594
|
G | A | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3621C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604594 | ||||||
| chr1:196604596
|
C | T | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3619G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604596 | ||||||
| chr1:196604614
|
G | T | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3601C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604614 | ||||||
| chr1:196604625
|
A | T | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3590T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604625 | ||||||
| chr1:196604629
|
G | T | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3586C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604629 | ||||||
| chr1:196604630
|
G | T | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3585C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604630 | ||||||
| chr1:196604633
|
A | T | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3582T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604633 | ||||||
| chr1:196604635
|
C | A | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3580G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604635 | ||||||
| chr1:196604637
|
G | A | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3578C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604637 | ||||||
| chr1:196604638
|
A | T | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3577T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604638 | ||||||
| chr1:196604639
|
G | T | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3576C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604639 | ||||||
| chr1:196604641
|
G | T | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3574C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604641 | ||||||
| chr1:196604642
|
C | T | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3573G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604642 | ||||||
| chr1:196604645
|
A | T | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3570T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604645 | ||||||
| chr1:196604651
|
G | T | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3564C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604651 | ||||||
| chr1:196604653
|
G | A | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3562C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604653 | ||||||
| chr1:196604656
|
G | T | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3559C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604656 | ||||||
| chr1:196604657
|
C | A | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3558G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604657 | ||||||
| chr1:196604659
|
A | T | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3556T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604659 | ||||||
| chr1:196604664
|
C | A | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3551G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604664 | ||||||
| chr1:196604668
|
G | T | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3547C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604668 | ||||||
| chr1:196604669
|
G | T | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3546C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604669 | ||||||
| chr1:196604672
|
G | T | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3543C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604672 | ||||||
| chr1:196604673
|
G | T | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3542C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604673 | ||||||
| chr1:196604674
|
C | A | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3541G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604674 | ||||||
| chr1:196604675
|
G | A | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3540C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604675 | ||||||
| chr1:196604680
|
G | A | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3535C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604680 | ||||||
| chr1:196604687
|
C | A | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3528G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604687 | ||||||
| chr1:196604688
|
A | T | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3527T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604688 | ||||||
| chr1:196604691
|
G | T | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3524C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604691 | ||||||
| chr1:196604693
|
C | T | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3522G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604693 | ||||||
| chr1:196604698
|
C | T | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3517G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604698 | ||||||
| chr1:196604703
|
C | T | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3512G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604703 | ||||||
| chr1:196604708
|
C | T | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3507G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604708 | ||||||
| chr1:196604709
|
A | T | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3506T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604709 | ||||||
| chr1:196604712
|
T | A | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3503A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604712 | ||||||
| chr1:196604713
|
A | T | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3502T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604713 | ||||||
| chr1:196604723
|
A | T | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3492T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604723 | ||||||
| chr1:196604726
|
T | A | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3489A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604726 | ||||||
| chr1:196604727
|
T | A | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3488A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604727 | ||||||
| chr1:196604734
|
C | T | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3481G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604734 | ||||||
| chr1:196604736
|
C | T | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3479G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604736 | ||||||
| chr1:196604738
|
T | A | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3477A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604738 | ||||||
| chr1:196604747
|
T | A | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3468A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604747 | ||||||
| chr1:196604748
|
A | T | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3467T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604748 | ||||||
| chr1:196604752
|
G | T | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3463C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604752 | ||||||
| chr1:196604755
|
G | T | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3460C>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604755 | ||||||
| chr1:196604756
|
C | T | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3459G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604756 | ||||||
| chr1:196604761
|
C | A | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3454G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604761 | ||||||
| chr1:196604763
|
T | A | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3452A>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604763 | ||||||
| chr1:196604770
|
C | A | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3445G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604770 | ||||||
| chr1:196604772
|
A | T | 1 | a0001c0001t0001g0005 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.95+3443T>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604772 | ||||||
| chr1:196604864
|
T | C | 5 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(2): Show | 5 | HG02647.hp2 HG02809.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.95+3351A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604864 | ||||||
| chr1:196604886
|
G | GT | 3 | a0001c0001t0001g0003a0001c0001t0001g0090a0001c0007t0001g0091 | 3 | HG02258.hp1 HG02280.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.95+3328dupA | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196604886 | ||||||
| chr1:196605027
|
A | G | 7 | a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0085others(4): Show | 7 | HG02622.hp2 HG02723.hp2 HG03041.hp2 others(4): Show |
intron_variant | MODIFIER | c.95+3188T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196605027 | ||||||
| chr1:196605112
|
G | A | 8 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0105others(5): Show | 8 | HG02145.hp2 HG02723.hp1 HG02818.hp1 others(5): Show |
intron_variant | MODIFIER | c.95+3103C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196605112 | ||||||
| chr1:196605150
|
C | A | 1 | a0001c0001t0001g0080 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.95+3065G>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196605150 | ||||||
| chr1:196605793
|
A | C | 27 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0083others(24): Show | 27 | HG01109.hp2 HG02145.hp2 HG02258.hp1 others(24): Show |
intron_variant | MODIFIER | c.95+2422T>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196605793 | ||||||
| chr1:196606122
|
T | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.95+2093A>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196606122 | ||||||
| chr1:196606423
|
A | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.95+1792T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196606423 | ||||||
| chr1:196606472
|
G | A | 40 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(37): Show | 40 | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(37): Show |
intron_variant | MODIFIER | c.95+1743C>T | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196606472 | ||||||
| chr1:196606757
|
A | G | 2 | a0001c0001t0003g0082a0001c0003t0008g0081 | 2 | HG01891.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.95+1458T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196606757 | ||||||
| chr1:196606872
|
A | G | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.95+1343T>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196606872 | ||||||
| chr1:196606913
|
C | T | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.95+1302G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196606913 | ||||||
| chr1:196607234
|
C | G | 80 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(77): Show | 80 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(77): Show |
intron_variant | MODIFIER | c.95+981G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196607234 | ||||||
| chr1:196607537
|
AT | A | 3 | a0001c0004t0004g0002a0001c0004t0004g0132a0001c0004t0004g0133 | 3 | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.95+677delA | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196607537 | ||||||
| chr1:196607736
|
C | T | 1 | a0001c0001t0001g0004 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.95+479G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196607736 | ||||||
| chr1:196607785
|
T | C | 1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.95+430A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196607785 | ||||||
| chr1:196607890
|
C | T | 1 | a0001c0001t0001g0003 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.95+325G>A | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196607890 | ||||||
| chr1:196608023
|
C | G | 1 | a0001c0004t0004g0002 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.95+192G>C | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196608023 | ||||||
| chr1:196608181
|
T | C | 3 | a0001c0001t0001g0134a0001c0001t0001g0135a0001c0001t0001g0136 | 3 | HG01081.hp1 HG01496.hp1 HG01981.hp1 |
intron_variant | MODIFIER | c.95+34A>G | KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | 196608181 |