Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 2963 |
|---|---|
| ensemblid | ENSG00000188342.13 |
| hgncid | 4653 |
| symbol | GTF2F2 |
| name | general transcription factor IIF subunit 2 |
| refseq_nuc | NM_004128.3 |
| refseq_prot | NP_004119.1 |
| ensembl_nuc | ENST00000340473.8 |
| ensembl_prot | ENSP00000340823.6 |
| mane_status | MANE Select |
| chr | chr13 |
| start | 45120510 |
| end | 45284893 |
| strand | + |
| ver | v1.2 |
| region | chr13:45120510-45284893 |
| region5000 | chr13:45115510-45289893 |
| regionname0 | GTF2F2_chr13_45120510_45284893 |
| regionname5000 | GTF2F2_chr13_45115510_45289893 |
| 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 | 249 | 210 | 80 | 40 | 66 | 4 | 18 | 46 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | copy fasta | chr13 | 45115510 | 45289893 |
| chapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 0/0 | 750 | 105 | 66 | 18 | 12 | 2 | 7 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | copy fasta | chr13 | 45115510 | 45289893 |
| c0002 | 1/1 | 750 | 104 | 14 | 22 | 53 | 2 | 11 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | copy fasta | chr13 | 45115510 | 45289893 |
| c0003 | 0/0 | 750 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | copy fasta | chr13 | 45115510 | 45289893 |
| 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 | 1479 | 193 | 63 | 40 | 66 | 4 | 18 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | copy fasta | chr13 | 45115510 | 45289893 |
| t0002 | 0/0 | 1479 | 12 | 12 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | copy fasta | chr13 | 45115510 | 45289893 |
| t0003 | 0/0 | 1479 | 2 | 2 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | copy fasta | chr13 | 45115510 | 45289893 |
| t0004 | 0/0 | 1479 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | copy fasta | chr13 | 45115510 | 45289893 |
| t0005 | 0/0 | 1479 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | copy fasta | chr13 | 45115510 | 45289893 |
| t0006 | 0/0 | 1479 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | copy fasta | chr13 | 45115510 | 45289893 |
| ghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0011 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0018 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0034 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0037 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0044 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0081 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0082 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0083 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0084 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0087 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0088 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0089 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0095 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0096 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0097 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0098 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0099 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0102 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0103 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0106 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0109 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0113 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0114 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0115 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0116 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0121 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0122 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0123 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0125 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0126 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0128 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0130 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0132 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0138 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0139 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0149 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0169 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0170 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0171 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0173 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0174 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0179 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0180 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0181 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0184 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0186 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0188 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0189 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0191 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0192 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0193 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0194 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0198 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0200 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0202 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0203 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0205 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0209 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| g0210 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| achapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 750 | 105 | 66 | 18 | 12 | 2 | 7 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | copy fasta | chr13 | 45115510 | 45289893 |
| a0001c0002 | 1/1 | 750 | 104 | 14 | 22 | 53 | 2 | 11 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | copy fasta | chr13 | 45115510 | 45289893 |
| a0001c0003 | 0/0 | 750 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | copy fasta | chr13 | 45115510 | 45289893 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 2228 | 90 | 51 | 18 | 12 | 2 | 7 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | copy fasta | chr13 | 45115510 | 45289893 |
| a0001c0001t0002 | 0/0 | 2228 | 12 | 12 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | copy fasta | chr13 | 45115510 | 45289893 |
| a0001c0001t0004 | 0/0 | 2228 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | copy fasta | chr13 | 45115510 | 45289893 |
| a0001c0001t0005 | 0/0 | 2228 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | copy fasta | chr13 | 45115510 | 45289893 |
| a0001c0001t0006 | 0/0 | 2228 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | copy fasta | chr13 | 45115510 | 45289893 |
| a0001c0002t0001 | 1/1 | 2228 | 102 | 12 | 22 | 53 | 2 | 11 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | copy fasta | chr13 | 45115510 | 45289893 |
| a0001c0002t0003 | 0/0 | 2228 | 2 | 2 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | copy fasta | chr13 | 45115510 | 45289893 |
| a0001c0003t0001 | 0/0 | 2228 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | copy fasta | chr13 | 45115510 | 45289893 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0011 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0018 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0034 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0037 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0044 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0081 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0082 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0083 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0084 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0087 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0088 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0089 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0095 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0096 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0097 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0098 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0099 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0102 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0205 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0001g0209 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0002g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0002g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0002g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0002g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0002g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0002g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0002g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0002g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0002g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0002g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0002g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0002g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0004g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0005g0210 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0001t0006g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0103 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0106 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0109 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0113 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0114 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0115 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0116 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0121 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0122 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0123 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0125 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0126 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0128 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0130 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0132 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0138 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0139 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0149 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0169 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0170 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0171 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0173 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0174 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0179 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0180 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0184 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0186 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0188 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0189 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0191 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0192 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0193 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0194 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0198 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0200 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0202 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0203 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0001g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0003g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0002t0003g0181 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| a0001c0003t0001g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00280 | hp1 | a0001 | c0002 | t0001 | g0121 | EUR | FIN | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG00280 | hp2 | a0001 | c0001 | t0001 | g0083 | EUR | FIN | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG00423 | hp1 | a0001 | c0002 | t0001 | g0183 | EAS | CHS | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG00423 | hp2 | a0001 | c0002 | t0001 | g0185 | EAS | CHS | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG00558 | hp1 | a0001 | c0003 | t0001 | g0131 | EAS | CHS | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG00558 | hp2 | a0001 | c0001 | t0001 | g0060 | EAS | CHS | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG00609 | hp1 | a0001 | c0002 | t0001 | g0168 | EAS | CHS | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG00609 | hp2 | a0001 | c0002 | t0001 | g0177 | EAS | CHS | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG00639 | hp1 | a0001 | c0001 | t0001 | g0098 | AMR | PUR | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG00639 | hp2 | a0001 | c0001 | t0001 | g0037 | AMR | PUR | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG00673 | hp1 | a0001 | c0002 | t0001 | g0172 | EAS | CHS | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG00673 | hp2 | a0001 | c0002 | t0001 | g0199 | EAS | CHS | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG00738 | hp1 | a0001 | c0001 | t0001 | g0209 | AMR | PUR | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG00738 | hp2 | a0001 | c0002 | t0001 | g0189 | AMR | PUR | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG01069 | hp1 | a0001 | c0001 | t0001 | g0097 | AMR | PUR | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG01069 | hp2 | a0001 | c0002 | t0001 | g0194 | AMR | PUR | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG01070 | hp1 | a0001 | c0001 | t0001 | g0081 | AMR | PUR | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG01070 | hp2 | a0001 | c0002 | t0001 | g0139 | AMR | PUR | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG01071 | hp1 | a0001 | c0001 | t0001 | g0090 | AMR | PUR | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG01071 | hp2 | a0001 | c0002 | t0001 | g0138 | AMR | PUR | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG01074 | hp1 | a0001 | c0001 | t0001 | g0051 | AMR | PUR | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG01074 | hp2 | a0001 | c0002 | t0001 | g0192 | AMR | PUR | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG01099 | hp1 | a0001 | c0002 | t0001 | g0188 | AMR | PUR | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG01099 | hp2 | a0001 | c0001 | t0001 | g0087 | AMR | PUR | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG01106 | hp1 | a0001 | c0002 | t0001 | g0171 | AMR | PUR | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG01106 | hp2 | a0001 | c0002 | t0001 | g0203 | AMR | PUR | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG01109 | hp1 | a0001 | c0001 | t0001 | g0047 | AMR | PUR | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG01109 | hp2 | a0001 | c0001 | t0001 | g0034 | AMR | PUR | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG01175 | hp1 | a0001 | c0002 | t0001 | g0184 | AMR | PUR | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG01175 | hp2 | a0001 | c0001 | t0001 | g0096 | AMR | PUR | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG01192 | hp1 | a0001 | c0002 | t0001 | g0148 | AMR | PUR | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG01192 | hp2 | a0001 | c0001 | t0001 | g0044 | AMR | PUR | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG01243 | hp1 | a0001 | c0001 | t0001 | g0025 | AMR | PUR | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG01243 | hp2 | a0001 | c0002 | t0001 | g0140 | AMR | PUR | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG01257 | hp1 | a0001 | c0002 | t0001 | g0175 | AMR | CLM | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG01257 | hp2 | a0001 | c0002 | t0001 | g0123 | AMR | CLM | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG01261 | hp1 | a0001 | c0002 | t0001 | g0132 | AMR | CLM | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG01261 | hp2 | a0001 | c0002 | t0001 | g0113 | AMR | CLM | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG01361 | hp1 | a0001 | c0001 | t0001 | g0038 | AMR | CLM | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG01361 | hp2 | a0001 | c0002 | t0001 | g0198 | AMR | CLM | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG01496 | hp1 | a0001 | c0001 | t0001 | g0099 | AMR | CLM | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG01496 | hp2 | a0001 | c0002 | t0001 | g0122 | AMR | CLM | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG01891 | hp1 | a0001 | c0001 | t0001 | g0094 | AFR | ACB | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG01891 | hp2 | a0001 | c0001 | t0001 | g0015 | AFR | ACB | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG01934 | hp1 | a0001 | c0001 | t0001 | g0023 | AMR | PEL | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG01934 | hp2 | a0001 | c0002 | t0001 | g0193 | AMR | PEL | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG01975 | hp1 | a0001 | c0001 | t0001 | g0072 | AMR | PEL | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG01975 | hp2 | a0001 | c0002 | t0001 | g0109 | AMR | PEL | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02015 | hp1 | a0001 | c0002 | t0001 | g0164 | EAS | KHV | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02015 | hp2 | a0001 | c0002 | t0001 | g0142 | EAS | KHV | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02040 | hp1 | a0001 | c0002 | t0001 | g0107 | EAS | KHV | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02040 | hp2 | a0001 | c0002 | t0001 | g0108 | EAS | KHV | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02055 | hp1 | a0001 | c0001 | t0001 | g0076 | AFR | ACB | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02055 | hp2 | a0001 | c0001 | t0002 | g0007 | AFR | ACB | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02074 | hp1 | a0001 | c0002 | t0001 | g0166 | EAS | KHV | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02074 | hp2 | a0001 | c0002 | t0001 | g0161 | EAS | KHV | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02083 | hp1 | a0001 | c0002 | t0001 | g0201 | EAS | KHV | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02083 | hp2 | a0001 | c0002 | t0001 | g0178 | EAS | KHV | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02132 | hp1 | a0001 | c0001 | t0001 | g0092 | EAS | KHV | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02132 | hp2 | a0001 | c0002 | t0001 | g0146 | EAS | KHV | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02135 | hp1 | a0001 | c0002 | t0001 | g0167 | EAS | KHV | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02135 | hp2 | a0001 | c0002 | t0001 | g0197 | EAS | KHV | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02257 | hp1 | a0001 | c0001 | t0001 | g0042 | AFR | ACB | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02257 | hp2 | a0001 | c0002 | t0001 | g0174 | AFR | ACB | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02258 | hp1 | a0001 | c0001 | t0001 | g0041 | AFR | ACB | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02258 | hp2 | a0001 | c0001 | t0002 | g0020 | AFR | ACB | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02273 | hp1 | a0001 | c0002 | t0001 | g0186 | AMR | PEL | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02273 | hp2 | a0001 | c0002 | t0001 | g0179 | AMR | PEL | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02280 | hp1 | a0001 | c0002 | t0003 | g0133 | AFR | ACB | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02280 | hp2 | a0001 | c0001 | t0002 | g0029 | AFR | ACB | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02451 | hp1 | a0001 | c0001 | t0001 | g0046 | AFR | ACB | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02451 | hp2 | a0001 | c0001 | t0002 | g0009 | AFR | ACB | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02572 | hp1 | a0001 | c0001 | t0001 | g0039 | AFR | GWD | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02572 | hp2 | a0001 | c0001 | t0006 | g0055 | AFR | GWD | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02615 | hp1 | a0001 | c0001 | t0001 | g0054 | AFR | GWD | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02615 | hp2 | a0001 | c0001 | t0001 | g0013 | AFR | GWD | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02622 | hp1 | a0001 | c0001 | t0001 | g0019 | AFR | GWD | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02622 | hp2 | a0001 | c0001 | t0001 | g0005 | AFR | GWD | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02630 | hp1 | a0001 | c0001 | t0001 | g0068 | AFR | GWD | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02630 | hp2 | a0001 | c0002 | t0001 | g0173 | AFR | GWD | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02647 | hp1 | a0001 | c0001 | t0001 | g0208 | AFR | GWD | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02647 | hp2 | a0001 | c0001 | t0001 | g0073 | AFR | GWD | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02698 | hp1 | a0001 | c0002 | t0001 | g0126 | SAS | PJL | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02698 | hp2 | a0001 | c0001 | t0001 | g0205 | SAS | PJL | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02717 | hp1 | a0001 | c0001 | t0001 | g0024 | AFR | GWD | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02717 | hp2 | a0001 | c0002 | t0001 | g0170 | AFR | GWD | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02723 | hp1 | a0001 | c0001 | t0001 | g0006 | AFR | GWD | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02723 | hp2 | a0001 | c0001 | t0001 | g0070 | AFR | GWD | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02809 | hp1 | a0001 | c0001 | t0001 | g0075 | AFR | GWD | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02809 | hp2 | a0001 | c0001 | t0002 | g0028 | AFR | GWD | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02818 | hp1 | a0001 | c0001 | t0001 | g0050 | AFR | GWD | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02818 | hp2 | a0001 | c0001 | t0001 | g0100 | AFR | GWD | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02895 | hp1 | a0001 | c0001 | t0001 | g0040 | AFR | GWD | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02895 | hp2 | a0001 | c0001 | t0001 | g0056 | AFR | GWD | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02896 | hp1 | a0001 | c0001 | t0001 | g0091 | AFR | GWD | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02896 | hp2 | a0001 | c0001 | t0001 | g0057 | AFR | GWD | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02897 | hp1 | a0001 | c0001 | t0001 | g0086 | AFR | GWD | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02897 | hp2 | a0001 | c0001 | t0001 | g0052 | AFR | GWD | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02922 | hp1 | a0001 | c0001 | t0001 | g0043 | AFR | ESN | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02922 | hp2 | a0001 | c0001 | t0002 | g0021 | AFR | ESN | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02965 | hp1 | a0001 | c0001 | t0001 | g0207 | AFR | ESN | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02965 | hp2 | a0001 | c0001 | t0001 | g0010 | AFR | ESN | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02976 | hp1 | a0001 | c0001 | t0001 | g0048 | AFR | ESN | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02976 | hp2 | a0001 | c0001 | t0001 | g0035 | AFR | ESN | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG03041 | hp1 | a0001 | c0002 | t0001 | g0111 | AFR | GWD | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG03041 | hp2 | a0001 | c0001 | t0001 | g0004 | AFR | GWD | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG03098 | hp1 | a0001 | c0001 | t0002 | g0026 | AFR | MSL | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG03098 | hp2 | a0001 | c0001 | t0001 | g0069 | AFR | MSL | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG03139 | hp1 | a0001 | c0001 | t0002 | g0001 | AFR | ESN | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG03139 | hp2 | a0001 | c0001 | t0001 | g0101 | AFR | ESN | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG03209 | hp1 | a0001 | c0001 | t0001 | g0093 | AFR | MSL | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG03209 | hp2 | a0001 | c0001 | t0001 | g0014 | AFR | MSL | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG03225 | hp1 | a0001 | c0001 | t0001 | g0030 | AFR | MSL | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG03225 | hp2 | a0001 | c0001 | t0004 | g0074 | AFR | MSL | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG03453 | hp1 | a0001 | c0001 | t0002 | g0031 | AFR | MSL | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG03453 | hp2 | a0001 | c0001 | t0005 | g0210 | AFR | MSL | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG03486 | hp1 | a0001 | c0001 | t0001 | g0071 | AFR | MSL | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG03486 | hp2 | a0001 | c0001 | t0002 | g0022 | AFR | MSL | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG03490 | hp1 | a0001 | c0001 | t0001 | g0084 | SAS | PJL | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG03490 | hp2 | a0001 | c0002 | t0001 | g0128 | SAS | PJL | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG03491 | hp1 | a0001 | c0001 | t0001 | g0011 | SAS | PJL | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG03491 | hp2 | a0001 | c0002 | t0001 | g0116 | SAS | PJL | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG03516 | hp1 | a0001 | c0001 | t0001 | g0045 | AFR | ESN | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG03516 | hp2 | a0001 | c0001 | t0001 | g0080 | AFR | ESN | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG03540 | hp1 | a0001 | c0001 | t0001 | g0049 | AFR | GWD | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG03540 | hp2 | a0001 | c0001 | t0001 | g0066 | AFR | GWD | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG03579 | hp1 | a0001 | c0001 | t0001 | g0078 | AFR | MSL | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG03579 | hp2 | a0001 | c0001 | t0001 | g0067 | AFR | MSL | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG03654 | hp1 | a0001 | c0001 | t0001 | g0095 | SAS | PJL | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG03654 | hp2 | a0001 | c0002 | t0001 | g0169 | SAS | PJL | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG03669 | hp1 | a0001 | c0001 | t0001 | g0082 | SAS | PJL | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG03669 | hp2 | a0001 | c0002 | t0001 | g0149 | SAS | PJL | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG03688 | hp1 | a0001 | c0001 | t0001 | g0018 | SAS | STU | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG03688 | hp2 | a0001 | c0002 | t0001 | g0103 | SAS | STU | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG03704 | hp1 | a0001 | c0002 | t0001 | g0106 | SAS | PJL | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG03704 | hp2 | a0001 | c0002 | t0001 | g0200 | SAS | PJL | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG03834 | hp1 | a0001 | c0002 | t0001 | g0125 | SAS | BEB | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG03834 | hp2 | a0001 | c0001 | t0001 | g0088 | SAS | BEB | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG04199 | hp1 | a0001 | c0002 | t0001 | g0191 | SAS | STU | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG04199 | hp2 | a0001 | c0002 | t0001 | g0114 | SAS | STU | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA18906 | hp1 | a0001 | c0002 | t0001 | g0180 | AFR | YRI | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA18906 | hp2 | a0001 | c0001 | t0001 | g0033 | AFR | YRI | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA18945 | hp1 | a0001 | c0002 | t0001 | g0163 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA18945 | hp2 | a0001 | c0001 | t0001 | g0058 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA18948 | hp1 | a0001 | c0002 | t0001 | g0195 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA18948 | hp2 | a0001 | c0002 | t0001 | g0104 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA18950 | hp1 | a0001 | c0002 | t0001 | g0144 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA18950 | hp2 | a0001 | c0001 | t0001 | g0061 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA18954 | hp1 | a0001 | c0001 | t0001 | g0008 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA18954 | hp2 | a0001 | c0002 | t0001 | g0110 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA18957 | hp1 | a0001 | c0002 | t0001 | g0157 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA18957 | hp2 | a0001 | c0002 | t0001 | g0112 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA18962 | hp1 | a0001 | c0001 | t0001 | g0016 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA18962 | hp2 | a0001 | c0002 | t0001 | g0155 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA18968 | hp1 | a0001 | c0002 | t0001 | g0136 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA18968 | hp2 | a0001 | c0002 | t0001 | g0153 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA18970 | hp1 | a0001 | c0002 | t0001 | g0152 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA18970 | hp2 | a0001 | c0002 | t0001 | g0204 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA18971 | hp1 | a0001 | c0002 | t0001 | g0003 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA18971 | hp2 | a0001 | c0002 | t0001 | g0141 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA18974 | hp1 | a0001 | c0002 | t0001 | g0176 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA18974 | hp2 | a0001 | c0002 | t0001 | g0137 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA18977 | hp1 | a0001 | c0002 | t0001 | g0120 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA18977 | hp2 | a0001 | c0001 | t0001 | g0062 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA18980 | hp1 | a0001 | c0002 | t0001 | g0143 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA18980 | hp2 | a0001 | c0001 | t0001 | g0059 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA18982 | hp1 | a0001 | c0002 | t0001 | g0117 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA18982 | hp2 | a0001 | c0001 | t0001 | g0017 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA18983 | hp1 | a0001 | c0002 | t0001 | g0151 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA18983 | hp2 | a0001 | c0002 | t0001 | g0156 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA18998 | hp1 | a0001 | c0001 | t0001 | g0063 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA18998 | hp2 | a0001 | c0002 | t0001 | g0127 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA19003 | hp1 | a0001 | c0002 | t0001 | g0160 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA19003 | hp2 | a0001 | c0002 | t0001 | g0187 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA19005 | hp1 | a0001 | c0002 | t0001 | g0119 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA19005 | hp2 | a0001 | c0002 | t0001 | g0154 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA19009 | hp1 | a0001 | c0002 | t0001 | g0158 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA19009 | hp2 | a0001 | c0002 | t0001 | g0147 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA19030 | hp1 | a0001 | c0002 | t0003 | g0181 | AFR | LWK | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA19030 | hp2 | a0001 | c0001 | t0001 | g0053 | AFR | LWK | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA19043 | hp1 | a0001 | c0001 | t0001 | g0012 | AFR | LWK | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA19043 | hp2 | a0001 | c0002 | t0001 | g0002 | AFR | LWK | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA19060 | hp1 | a0001 | c0002 | t0001 | g0124 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA19060 | hp2 | a0001 | c0002 | t0001 | g0196 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA19066 | hp1 | a0001 | c0002 | t0001 | g0162 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA19066 | hp2 | a0001 | c0001 | t0001 | g0065 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA19075 | hp1 | a0001 | c0002 | t0001 | g0159 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA19075 | hp2 | a0001 | c0002 | t0001 | g0145 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA19085 | hp1 | a0001 | c0002 | t0001 | g0105 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA19085 | hp2 | a0001 | c0002 | t0001 | g0165 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA19240 | hp1 | a0001 | c0001 | t0001 | g0079 | AFR | YRI | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA19240 | hp2 | a0001 | c0001 | t0002 | g0027 | AFR | YRI | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA20129 | hp1 | a0001 | c0002 | t0001 | g0134 | AFR | ASW | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA20129 | hp2 | a0001 | c0002 | t0001 | g0206 | AFR | ASW | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0089 | EUR | TSI | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA20752 | hp2 | a0001 | c0002 | t0001 | g0130 | EUR | TSI | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG01123 | hp1 | a0001 | c0001 | t0001 | g0102 | AMR | CLM | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG01123 | hp2 | a0001 | c0002 | t0001 | g0190 | AMR | CLM | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02109 | hp1 | a0001 | c0002 | t0001 | g0182 | AFR | ACB | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG02109 | hp2 | a0001 | c0001 | t0001 | g0077 | AFR | ACB | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG06807 | hp1 | a0001 | c0002 | t0001 | g0129 | AFR | USA | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| HG06807 | hp2 | a0001 | c0001 | t0002 | g0032 | AFR | USA | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA18955 | hp1 | a0001 | c0002 | t0001 | g0150 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA18955 | hp2 | a0001 | c0001 | t0001 | g0064 | EAS | JPT | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA20300 | hp1 | a0001 | c0001 | t0001 | g0085 | AFR | USA | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA20300 | hp2 | a0001 | c0002 | t0001 | g0118 | AFR | USA | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA21309 | hp1 | a0001 | c0001 | t0001 | g0036 | AFR | LWK | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| NA21309 | hp2 | a0001 | c0002 | t0001 | g0135 | AFR | LWK | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0002 | t0001 | g0202 | REF | REF | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| homoSapiens_grch38 | hp1 | a0001 | c0002 | t0001 | g0115 | REF | REF | GTF2F2_chr13_45115510_45289893 | GTF2F2 | chr13 | 45115510 | 45289893 |
| 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 |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr13:45207428
|
G | A | 1 | a0001c0003 | 1 | HG00558.hp1 | synonymous_variant | LOW | c.309G>A | p.Lys103Lys | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/8 | 455/2228 | 309/750 | 103/249 | chr13 | 45207428 | ||
| chr13:45267367
|
G | A | 1 | a0001c0001 | 105 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(102): Show |
synonymous_variant | LOW | c.621G>A | p.Lys207Lys | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/8 | 767/2228 | 621/750 | 207/249 | chr13 | 45267367 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr13:45283728
|
T | A | 1 | a0001c0001t0004 | 1 | HG03225.hp2 | 3_prime_UTR_variant | MODIFIER | c.*167T>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 8/8 | 167 | chr13 | 45283728 | |||||
| chr13:45284175
|
A | G | 1 | a0001c0001t0006 | 1 | HG02572.hp2 | 3_prime_UTR_variant | MODIFIER | c.*614A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 8/8 | 614 | chr13 | 45284175 | |||||
| chr13:45284472
|
A | G | 1 | a0001c0001t0002 | 12 | HG02055.hp2 HG02258.hp2 HG02280.hp2 others(9): Show |
3_prime_UTR_variant | MODIFIER | c.*911A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 8/8 | 911 | chr13 | 45284472 | |||||
| chr13:45284541
|
A | G | 1 | a0001c0002t0003 | 2 | HG02280.hp1 NA19030.hp1 |
3_prime_UTR_variant | MODIFIER | c.*980A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 8/8 | 980 | chr13 | 45284541 | |||||
| chr13:45284827
|
T | C | 1 | a0001c0001t0005 | 1 | HG03453.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1266T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 8/8 | 1266 | chr13 | 45284827 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr13:45121012
|
A | G | 1 | a0001c0001t0005g0210 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.66+291A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45121012 | ||||||
| chr13:45121246
|
G | A | 1 | a0001c0001t0002g0001 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.66+525G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45121246 | ||||||
| chr13:45121775
|
T | C | 1 | a0001c0002t0001g0002 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.66+1054T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45121775 | ||||||
| chr13:45121900
|
G | A | 1 | a0001c0002t0001g0003 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.66+1179G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45121900 | ||||||
| chr13:45121913
|
A | AGATT | 38 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(35): Show | 38 | HG00639.hp2 HG01109.hp2 HG01243.hp1 others(35): Show |
intron_variant | MODIFIER | c.66+1194_66+1197dup others(4): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | 45121913 | |||||
| chr13:45121937
|
A | G | 1 | a0001c0001t0001g0209 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.66+1216A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45121937 | ||||||
| chr13:45121986
|
G | C | 25 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(22): Show | 25 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.66+1265G>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45121986 | ||||||
| chr13:45122054
|
T | G | 38 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(35): Show | 38 | HG00639.hp2 HG01109.hp2 HG01243.hp1 others(35): Show |
intron_variant | MODIFIER | c.66+1333T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45122054 | ||||||
| chr13:45122070
|
G | C | 4 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(1): Show | 4 | HG02630.hp1 HG03098.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.66+1349G>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45122070 | ||||||
| chr13:45122082
|
A | G | 1 | a0001c0001t0001g0040 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.66+1361A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45122082 | ||||||
| chr13:45122280
|
ATGT | A | 2 | a0001c0001t0001g0070a0001c0001t0001g0071 | 2 | HG02723.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.66+1561_66+1563del others(3): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | 45122280 | |||||
| chr13:45122284
|
T | A | 2 | a0001c0001t0001g0070a0001c0001t0001g0071 | 2 | HG02723.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.66+1563T>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45122284 | ||||||
| chr13:45122416
|
A | G | 2 | a0001c0001t0001g0207a0001c0001t0001g0208 | 2 | HG02647.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.66+1695A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45122416 | ||||||
| chr13:45122471
|
TA | T | 38 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(35): Show | 38 | HG00639.hp2 HG01109.hp2 HG01243.hp1 others(35): Show |
intron_variant | MODIFIER | c.66+1755delA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | 45122471 | |||||
| chr13:45122478
|
A | T | 38 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(35): Show | 38 | HG00639.hp2 HG01109.hp2 HG01243.hp1 others(35): Show |
intron_variant | MODIFIER | c.66+1757A>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45122478 | ||||||
| chr13:45122521
|
C | A | 38 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(35): Show | 38 | HG00639.hp2 HG01109.hp2 HG01243.hp1 others(35): Show |
intron_variant | MODIFIER | c.66+1800C>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45122521 | ||||||
| chr13:45122533
|
C | G | 1 | a0001c0002t0001g0206 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.66+1812C>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45122533 | ||||||
| chr13:45122581
|
C | T | 1 | a0001c0001t0001g0205 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.66+1860C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45122581 | ||||||
| chr13:45122608
|
T | G | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.66+1887T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45122608 | ||||||
| chr13:45122647
|
A | T | 1 | a0001c0001t0001g0069 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.66+1926A>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45122647 | ||||||
| chr13:45122652
|
A | T | 1 | a0001c0002t0001g0204 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.66+1931A>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45122652 | ||||||
| chr13:45122727
|
T | C | 63 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(60): Show | 63 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(60): Show |
intron_variant | MODIFIER | c.66+2006T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45122727 | ||||||
| chr13:45122734
|
C | T | 1 | a0001c0001t0001g0205 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.66+2013C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45122734 | ||||||
| chr13:45122744
|
C | T | 1 | a0001c0001t0001g0205 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.66+2023C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45122744 | ||||||
| chr13:45122895
|
A | T | 2 | a0001c0001t0001g0207a0001c0001t0001g0208 | 2 | HG02647.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.66+2174A>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45122895 | ||||||
| chr13:45122934
|
C | T | 2 | a0001c0001t0001g0207a0001c0001t0001g0208 | 2 | HG02647.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.66+2213C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45122934 | ||||||
| chr13:45122972
|
A | G | 2 | a0001c0002t0001g0202a0001c0002t0001g0203 | 2 | HG01106.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.66+2251A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45122972 | ||||||
| chr13:45123001
|
C | G | 1 | a0001c0002t0001g0201 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.66+2280C>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45123001 | ||||||
| chr13:45123038
|
T | A | 2 | a0001c0001t0001g0004a0001c0001t0001g0005 | 2 | HG02622.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.66+2317T>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45123038 | ||||||
| chr13:45123302
|
C | G | 6 | a0001c0002t0001g0195a0001c0002t0001g0196a0001c0002t0001g0197others(3): Show | 6 | HG00673.hp2 HG01361.hp2 HG02135.hp2 others(3): Show |
intron_variant | MODIFIER | c.66+2581C>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45123302 | ||||||
| chr13:45123376
|
C | G | 8 | a0001c0001t0001g0058a0001c0001t0001g0059a0001c0001t0001g0060others(5): Show | 8 | HG00558.hp2 NA18945.hp2 NA18950.hp2 others(5): Show |
intron_variant | MODIFIER | c.66+2655C>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45123376 | ||||||
| chr13:45123490
|
G | A | 1 | a0001c0001t0001g0041 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.66+2769G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45123490 | ||||||
| chr13:45123567
|
T | C | 1 | a0001c0001t0001g0205 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.66+2846T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45123567 | ||||||
| chr13:45123611
|
C | T | 1 | a0001c0001t0001g0102 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.66+2890C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45123611 | ||||||
| chr13:45123634
|
G | GA | 100 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(97): Show | 100 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(97): Show |
intron_variant | MODIFIER | c.66+2926dupA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | 45123634 | |||||
| chr13:45123634
|
G | GAA | 5 | a0001c0001t0001g0006a0001c0001t0001g0040a0001c0001t0001g0042others(2): Show | 5 | HG02055.hp1 HG02109.hp2 HG02257.hp1 others(2): Show |
intron_variant | MODIFIER | c.66+2925_66+2926dup others(2): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | 45123634 | |||||
| chr13:45123712
|
T | C | 1 | a0001c0002t0001g0103 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.66+2991T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45123712 | ||||||
| chr13:45123791
|
A | AT | 45 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(42): Show | 45 | HG00639.hp2 HG01069.hp2 HG01074.hp2 others(42): Show |
intron_variant | MODIFIER | c.66+3089dupT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | 45123791 | |||||
| chr13:45123815
|
G | C | 1 | a0001c0002t0001g0201 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.66+3094G>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45123815 | ||||||
| chr13:45123881
|
G | T | 1 | a0001c0002t0001g0189 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.66+3160G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45123881 | ||||||
| chr13:45124145
|
C | T | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.66+3424C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45124145 | ||||||
| chr13:45124272
|
C | T | 1 | a0001c0002t0001g0188 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.66+3551C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45124272 | ||||||
| chr13:45124843
|
C | T | 25 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(22): Show | 25 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.66+4122C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45124843 | ||||||
| chr13:45124958
|
A | G | 105 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(102): Show | 105 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(102): Show |
intron_variant | MODIFIER | c.66+4237A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45124958 | ||||||
| chr13:45125071
|
G | A | 1 | a0001c0001t0001g0072 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.66+4350G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45125071 | ||||||
| chr13:45125164
|
T | C | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.66+4443T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45125164 | ||||||
| chr13:45125300
|
T | C | 105 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(102): Show | 105 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(102): Show |
intron_variant | MODIFIER | c.66+4579T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45125300 | ||||||
| chr13:45125453
|
G | A | 5 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(2): Show | 5 | HG02630.hp1 HG03098.hp2 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.66+4732G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45125453 | ||||||
| chr13:45125479
|
C | G | 1 | a0001c0002t0001g0200 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.66+4758C>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45125479 | ||||||
| chr13:45125508
|
C | T | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.66+4787C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45125508 | ||||||
| chr13:45125554
|
G | A | 1 | a0001c0001t0001g0008 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.66+4833G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45125554 | ||||||
| chr13:45125830
|
T | C | 67 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(64): Show | 67 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(64): Show |
intron_variant | MODIFIER | c.66+5109T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45125830 | ||||||
| chr13:45125909
|
A | AG | 10 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0072others(7): Show | 10 | HG01496.hp1 HG01975.hp1 HG02647.hp2 others(7): Show |
intron_variant | MODIFIER | c.66+5190dupG | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | 45125909 | |||||
| chr13:45126095
|
G | T | 1 | a0001c0002t0001g0199 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.66+5374G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45126095 | ||||||
| chr13:45126210
|
G | A | 6 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(3): Show | 6 | HG01496.hp1 HG02698.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.66+5489G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45126210 | ||||||
| chr13:45126245
|
C | CT | 40 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(37): Show | 40 | HG00423.hp1 HG01069.hp1 HG01123.hp1 others(37): Show |
intron_variant | MODIFIER | c.66+5548dupT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | 45126245 | |||||
| chr13:45126245
|
C | CTT | 11 | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0036others(8): Show | 11 | HG00423.hp2 HG00639.hp1 HG00639.hp2 others(8): Show |
intron_variant | MODIFIER | c.66+5547_66+5548dup others(2): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | 45126245 | |||||
| chr13:45126245
|
CT | C | 10 | a0001c0001t0001g0070a0001c0001t0001g0072a0001c0001t0001g0073others(7): Show | 10 | HG01975.hp1 HG02647.hp2 HG02723.hp2 others(7): Show |
intron_variant | MODIFIER | c.66+5548delT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | 45126245 | |||||
| chr13:45126403
|
C | T | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.66+5682C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45126403 | ||||||
| chr13:45126406
|
G | C | 105 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(102): Show | 105 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(102): Show |
intron_variant | MODIFIER | c.66+5685G>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45126406 | ||||||
| chr13:45126434
|
T | G | 1 | a0001c0001t0001g0011 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.66+5713T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45126434 | ||||||
| chr13:45126485
|
C | T | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.66+5764C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45126485 | ||||||
| chr13:45126548
|
C | T | 32 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(29): Show | 32 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(29): Show |
intron_variant | MODIFIER | c.66+5827C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45126548 | ||||||
| chr13:45126667
|
TGG | T | 25 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(22): Show | 25 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.66+5947_66+5948del others(2): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45126667 | ||||||
| chr13:45126669
|
GTA | G | 36 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(33): Show | 36 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(33): Show |
intron_variant | MODIFIER | c.66+5955_66+5956del others(2): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | 45126669 | |||||
| chr13:45126670
|
T | C | 25 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(22): Show | 25 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.66+5949T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45126670 | ||||||
| chr13:45126671
|
A | T | 25 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(22): Show | 25 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.66+5950A>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45126671 | ||||||
| chr13:45126690
|
C | T | 2 | a0001c0002t0001g0105a0001c0002t0001g0177 | 2 | HG00609.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.66+5969C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45126690 | ||||||
| chr13:45126697
|
T | C | 1 | a0001c0001t0001g0012 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.66+5976T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45126697 | ||||||
| chr13:45126898
|
G | C | 1 | a0001c0001t0001g0012 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.66+6177G>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45126898 | ||||||
| chr13:45127019
|
T | G | 25 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(22): Show | 25 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(22): Show |
intron_variant | MODIFIER | c.66+6298T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45127019 | ||||||
| chr13:45127184
|
G | A | 61 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(58): Show | 61 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(58): Show |
intron_variant | MODIFIER | c.66+6463G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45127184 | ||||||
| chr13:45127320
|
C | CT | 42 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(39): Show | 42 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(39): Show |
intron_variant | MODIFIER | c.66+6609dupT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | 45127320 | |||||
| chr13:45127320
|
C | CTT | 25 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(22): Show | 25 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.66+6608_66+6609dup others(2): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | 45127320 | |||||
| chr13:45127492
|
A | AT | 58 | a0001c0001t0001g0033a0001c0001t0001g0041a0001c0001t0001g0042others(55): Show | 58 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(55): Show |
intron_variant | MODIFIER | c.66+6788dupT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | 45127492 | |||||
| chr13:45127646
|
T | C | 6 | a0001c0001t0001g0010a0001c0001t0001g0013a0001c0001t0001g0014others(3): Show | 6 | HG01891.hp2 HG02451.hp2 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.66+6925T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45127646 | ||||||
| chr13:45127653
|
C | T | 1 | a0001c0001t0001g0095 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.66+6932C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45127653 | ||||||
| chr13:45127790
|
G | A | 25 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(22): Show | 25 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.66+7069G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45127790 | ||||||
| chr13:45127832
|
C | T | 5 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(2): Show | 5 | HG02630.hp1 HG03098.hp2 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.66+7111C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45127832 | ||||||
| chr13:45127934
|
C | T | 38 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(35): Show | 38 | HG00639.hp2 HG01109.hp2 HG01243.hp1 others(35): Show |
intron_variant | MODIFIER | c.66+7213C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45127934 | ||||||
| chr13:45127938
|
C | CT | 47 | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0013others(44): Show | 47 | HG00423.hp1 HG00639.hp2 HG01070.hp2 others(44): Show |
intron_variant | MODIFIER | c.66+7248dupT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | 45127938 | |||||
| chr13:45127938
|
C | CTT | 18 | a0001c0001t0001g0006a0001c0001t0001g0014a0001c0001t0001g0015others(15): Show | 18 | HG00609.hp1 HG01106.hp1 HG01891.hp2 others(15): Show |
intron_variant | MODIFIER | c.66+7247_66+7248dup others(2): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | 45127938 | |||||
| chr13:45127938
|
C | CTTT | 9 | a0001c0001t0002g0001a0001c0001t0002g0031a0001c0001t0002g0032others(6): Show | 9 | HG00673.hp1 HG01106.hp2 HG01175.hp1 others(6): Show |
intron_variant | MODIFIER | c.66+7246_66+7248dup others(3): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | 45127938 | |||||
| chr13:45127938
|
CT | C | 16 | a0001c0001t0001g0018a0001c0001t0001g0042a0001c0001t0001g0053others(13): Show | 16 | HG01975.hp2 HG02040.hp1 HG02040.hp2 others(13): Show |
intron_variant | MODIFIER | c.66+7248delT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | 45127938 | |||||
| chr13:45127938
|
CTT | C | 18 | a0001c0001t0001g0041a0001c0001t0001g0045a0001c0001t0001g0046others(15): Show | 18 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(15): Show |
intron_variant | MODIFIER | c.66+7247_66+7248del others(2): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | 45127938 | |||||
| chr13:45127938
|
CTTTT | C | 16 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(13): Show | 16 | HG01123.hp1 HG01175.hp2 HG01891.hp1 others(13): Show |
intron_variant | MODIFIER | c.66+7245_66+7248del others(4): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | 45127938 | |||||
| chr13:45127938
|
CTTTTT | C | 16 | a0001c0001t0001g0077a0001c0001t0001g0081a0001c0001t0001g0082others(13): Show | 16 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(13): Show |
intron_variant | MODIFIER | c.66+7244_66+7248del others(5): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | 45127938 | |||||
| chr13:45127938
|
CTTTTTTT others(5): Show |
C | 1 | a0001c0001t0001g0044 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.66+7237_66+7248del others(12): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | 45127938 | |||||
| chr13:45127938
|
CTTTTTTT others(7): Show |
C | 1 | a0001c0001t0001g0043 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.66+7235_66+7248del others(14): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | 45127938 | |||||
| chr13:45127938
|
CTTTTTTT others(9): Show |
C | 4 | a0001c0001t0001g0008a0001c0001t0001g0016a0001c0001t0001g0017others(1): Show | 4 | HG03704.hp1 NA18954.hp1 NA18962.hp1 others(1): Show |
intron_variant | MODIFIER | c.66+7233_66+7248del others(16): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | 45127938 | |||||
| chr13:45127950
|
T | C | 3 | a0001c0001t0001g0070a0001c0001t0001g0100a0001c0001t0001g0101 | 3 | HG02723.hp2 HG02818.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.66+7229T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45127950 | ||||||
| chr13:45127951
|
T | C | 3 | a0001c0001t0001g0071a0001c0001t0001g0099a0001c0001t0001g0205 | 3 | HG01496.hp1 HG02698.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.66+7230T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45127951 | ||||||
| chr13:45127970
|
C | T | 2 | a0001c0001t0001g0040a0001c0002t0001g0137 | 2 | HG02895.hp1 NA18974.hp2 |
intron_variant | MODIFIER | c.66+7249C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45127970 | ||||||
| chr13:45127971
|
T | C | 1 | a0001c0002t0001g0137 | 1 | NA18974.hp2 | intron_variant | MODIFIER | c.66+7250T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45127971 | ||||||
| chr13:45128113
|
A | C | 1 | a0001c0002t0001g0136 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.66+7392A>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45128113 | ||||||
| chr13:45128293
|
G | A | 2 | a0001c0002t0001g0138a0001c0002t0001g0139 | 2 | HG01070.hp2 HG01071.hp2 |
intron_variant | MODIFIER | c.66+7572G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45128293 | ||||||
| chr13:45128340
|
C | T | 1 | a0001c0001t0005g0210 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.66+7619C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45128340 | ||||||
| chr13:45128444
|
G | A | 1 | a0001c0002t0001g0140 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.66+7723G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45128444 | ||||||
| chr13:45128466
|
G | A | 1 | a0001c0002t0001g0175 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.66+7745G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45128466 | ||||||
| chr13:45128743
|
A | G | 2 | a0001c0002t0001g0138a0001c0002t0001g0139 | 2 | HG01070.hp2 HG01071.hp2 |
intron_variant | MODIFIER | c.67-7990A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45128743 | ||||||
| chr13:45128791
|
C | T | 105 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(102): Show | 105 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(102): Show |
intron_variant | MODIFIER | c.67-7942C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45128791 | ||||||
| chr13:45128830
|
T | G | 5 | a0001c0001t0001g0081a0001c0001t0001g0082a0001c0001t0001g0083others(2): Show | 5 | HG00280.hp2 HG00639.hp1 HG01070.hp1 others(2): Show |
intron_variant | MODIFIER | c.67-7903T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45128830 | ||||||
| chr13:45128888
|
C | T | 2 | a0001c0001t0001g0207a0001c0001t0001g0208 | 2 | HG02647.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.67-7845C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45128888 | ||||||
| chr13:45129247
|
C | T | 27 | a0001c0002t0001g0003a0001c0002t0001g0104a0001c0002t0001g0134others(24): Show | 27 | HG00609.hp1 HG00673.hp1 HG01106.hp1 others(24): Show |
intron_variant | MODIFIER | c.67-7486C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45129247 | ||||||
| chr13:45129666
|
A | G | 5 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(2): Show | 5 | HG02630.hp1 HG03098.hp2 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.67-7067A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45129666 | ||||||
| chr13:45129773
|
C | T | 1 | a0001c0001t0001g0017 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.67-6960C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45129773 | ||||||
| chr13:45130151
|
C | T | 38 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(35): Show | 38 | HG00639.hp2 HG01109.hp2 HG01243.hp1 others(35): Show |
intron_variant | MODIFIER | c.67-6582C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45130151 | ||||||
| chr13:45130343
|
G | C | 25 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(22): Show | 25 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.67-6390G>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45130343 | ||||||
| chr13:45130546
|
A | G | 1 | a0001c0002t0001g0151 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.67-6187A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45130546 | ||||||
| chr13:45130777
|
T | C | 1 | a0001c0001t0001g0039 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.67-5956T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45130777 | ||||||
| chr13:45130932
|
C | T | 1 | a0001c0002t0001g0003 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.67-5801C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45130932 | ||||||
| chr13:45131002
|
C | T | 2 | a0001c0001t0001g0004a0001c0001t0001g0005 | 2 | HG02622.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.67-5731C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45131002 | ||||||
| chr13:45131019
|
G | A | 25 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(22): Show | 25 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(22): Show |
intron_variant | MODIFIER | c.67-5714G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45131019 | ||||||
| chr13:45131210
|
GA | G | 7 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0034others(4): Show | 7 | HG01109.hp2 HG01361.hp1 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.67-5510delA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | 45131210 | |||||
| chr13:45131430
|
T | A | 61 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(58): Show | 61 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(58): Show |
intron_variant | MODIFIER | c.67-5303T>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45131430 | ||||||
| chr13:45131440
|
A | G | 61 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(58): Show | 61 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(58): Show |
intron_variant | MODIFIER | c.67-5293A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45131440 | ||||||
| chr13:45131894
|
T | C | 1 | a0001c0002t0001g0202 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.67-4839T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45131894 | ||||||
| chr13:45131897
|
C | CA | 59 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(56): Show | 59 | HG00280.hp2 HG00558.hp2 HG00609.hp1 others(56): Show |
intron_variant | MODIFIER | c.67-4812dupA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | 45131897 | |||||
| chr13:45131897
|
C | CAA | 10 | a0001c0001t0001g0073a0001c0001t0001g0075a0001c0001t0001g0084others(7): Show | 10 | HG00738.hp1 HG01099.hp2 HG02647.hp2 others(7): Show |
intron_variant | MODIFIER | c.67-4813_67-4812dup others(2): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | 45131897 | |||||
| chr13:45131897
|
CA | C | 17 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0018others(14): Show | 17 | HG01934.hp1 HG02055.hp2 HG02258.hp2 others(14): Show |
intron_variant | MODIFIER | c.67-4812delA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | 45131897 | |||||
| chr13:45131897
|
CAA | C | 17 | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0011others(14): Show | 17 | HG00639.hp2 HG01243.hp1 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.67-4813_67-4812del others(2): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | 45131897 | |||||
| chr13:45131897
|
CAAAAA | C | 6 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(3): Show | 6 | HG01496.hp1 HG02698.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.67-4816_67-4812del others(5): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | 45131897 | |||||
| chr13:45131921
|
AGAG | A | 2 | a0001c0001t0001g0045a0001c0001t0001g0053 | 2 | HG03516.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.67-4811_67-4809del others(3): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45131921 | ||||||
| chr13:45131922
|
G | A | 1 | a0001c0001t0001g0069 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.67-4811G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45131922 | ||||||
| chr13:45131924
|
G | A | 1 | a0001c0001t0001g0069 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.67-4809G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45131924 | ||||||
| chr13:45131930
|
G | A | 60 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(57): Show | 60 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(57): Show |
intron_variant | MODIFIER | c.67-4803G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45131930 | ||||||
| chr13:45132145
|
G | T | 4 | a0001c0001t0001g0011a0001c0001t0001g0018a0001c0001t0001g0019others(1): Show | 4 | HG01934.hp1 HG02622.hp1 HG03491.hp1 others(1): Show |
intron_variant | MODIFIER | c.67-4588G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45132145 | ||||||
| chr13:45132433
|
G | GT | 31 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(28): Show | 31 | HG00558.hp2 HG01109.hp1 HG01192.hp2 others(28): Show |
intron_variant | MODIFIER | c.67-4288dupT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | 45132433 | |||||
| chr13:45132433
|
G | GTT | 26 | a0001c0001t0001g0051a0001c0001t0001g0076a0001c0001t0001g0077others(23): Show | 26 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(23): Show |
intron_variant | MODIFIER | c.67-4289_67-4288dup others(2): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | 45132433 | |||||
| chr13:45132438
|
T | G | 1 | a0001c0002t0001g0141 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.67-4295T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45132438 | ||||||
| chr13:45132471
|
G | A | 1 | a0001c0002t0001g0190 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.67-4262G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45132471 | ||||||
| chr13:45132480
|
A | G | 1 | a0001c0001t0005g0210 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.67-4253A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45132480 | ||||||
| chr13:45132601
|
GA | G | 4 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(1): Show | 4 | HG02630.hp1 HG03098.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.67-4131delA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45132601 | ||||||
| chr13:45133127
|
A | T | 32 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(29): Show | 32 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(29): Show |
intron_variant | MODIFIER | c.67-3606A>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45133127 | ||||||
| chr13:45133147
|
G | A | 1 | a0001c0002t0001g0113 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.67-3586G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45133147 | ||||||
| chr13:45133345
|
A | G | 25 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(22): Show | 25 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(22): Show |
intron_variant | MODIFIER | c.67-3388A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45133345 | ||||||
| chr13:45133376
|
C | T | 25 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(22): Show | 25 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.67-3357C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45133376 | ||||||
| chr13:45133377
|
A | G | 61 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(58): Show | 61 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(58): Show |
intron_variant | MODIFIER | c.67-3356A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45133377 | ||||||
| chr13:45133477
|
A | G | 2 | a0001c0001t0001g0008a0001c0001t0001g0017 | 2 | NA18954.hp1 NA18982.hp2 |
intron_variant | MODIFIER | c.67-3256A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45133477 | ||||||
| chr13:45133598
|
A | G | 204 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(201): Show | 204 | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(201): Show |
intron_variant | MODIFIER | c.67-3135A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45133598 | ||||||
| chr13:45133793
|
C | A | 4 | a0001c0001t0001g0011a0001c0001t0001g0018a0001c0001t0001g0019others(1): Show | 4 | HG01934.hp1 HG02622.hp1 HG03491.hp1 others(1): Show |
intron_variant | MODIFIER | c.67-2940C>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45133793 | ||||||
| chr13:45133882
|
G | A | 7 | a0001c0001t0001g0043a0001c0001t0001g0046a0001c0001t0001g0047others(4): Show | 7 | HG01109.hp1 HG02451.hp1 HG02895.hp2 others(4): Show |
intron_variant | MODIFIER | c.67-2851G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45133882 | ||||||
| chr13:45133886
|
C | T | 2 | a0001c0001t0001g0075a0001c0001t0004g0074 | 2 | HG02809.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.67-2847C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45133886 | ||||||
| chr13:45133928
|
G | A | 8 | a0001c0002t0001g0107a0001c0002t0001g0113a0001c0002t0001g0195others(5): Show | 8 | HG00673.hp2 HG01261.hp2 HG01361.hp2 others(5): Show |
intron_variant | MODIFIER | c.67-2805G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45133928 | ||||||
| chr13:45133953
|
C | T | 1 | a0001c0002t0001g0116 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.67-2780C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45133953 | ||||||
| chr13:45134168
|
TC | T | 4 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(1): Show | 4 | HG02630.hp1 HG03098.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.67-2561delC | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | 45134168 | |||||
| chr13:45134571
|
G | A | 1 | a0001c0002t0001g0002 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.67-2162G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45134571 | ||||||
| chr13:45134577
|
G | A | 1 | a0001c0002t0001g0206 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.67-2156G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45134577 | ||||||
| chr13:45134613
|
A | G | 1 | a0001c0001t0001g0072 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.67-2120A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45134613 | ||||||
| chr13:45134883
|
A | G | 61 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(58): Show | 61 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(58): Show |
intron_variant | MODIFIER | c.67-1850A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45134883 | ||||||
| chr13:45134906
|
G | A | 67 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(64): Show | 67 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(64): Show |
intron_variant | MODIFIER | c.67-1827G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45134906 | ||||||
| chr13:45134953
|
C | CT | 7 | a0001c0001t0001g0018a0001c0001t0002g0028a0001c0002t0001g0138others(4): Show | 7 | HG01070.hp2 HG01071.hp2 HG02074.hp1 others(4): Show |
intron_variant | MODIFIER | c.67-1763dupT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | 45134953 | |||||
| chr13:45134968
|
T | A | 57 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(54): Show | 57 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(54): Show |
intron_variant | MODIFIER | c.67-1765T>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45134968 | ||||||
| chr13:45134974
|
A | C | 57 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(54): Show | 57 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(54): Show |
intron_variant | MODIFIER | c.67-1759A>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45134974 | ||||||
| chr13:45134974
|
A | T | 1 | a0001c0002t0001g0112 | 1 | NA18957.hp2 | intron_variant | MODIFIER | c.67-1759A>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45134974 | ||||||
| chr13:45135008
|
C | T | 1 | a0001c0001t0002g0022 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.67-1725C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45135008 | ||||||
| chr13:45135080
|
A | C | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.67-1653A>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45135080 | ||||||
| chr13:45135111
|
G | A | 1 | a0001c0001t0001g0205 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.67-1622G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45135111 | ||||||
| chr13:45135374
|
C | G | 1 | a0001c0001t0001g0062 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.67-1359C>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45135374 | ||||||
| chr13:45135460
|
A | AT | 25 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(22): Show | 25 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.67-1272dupT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | 45135460 | |||||
| chr13:45135528
|
G | T | 2 | a0001c0001t0001g0004a0001c0001t0001g0005 | 2 | HG02622.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.67-1205G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45135528 | ||||||
| chr13:45135538
|
G | A | 1 | a0001c0002t0001g0142 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.67-1195G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45135538 | ||||||
| chr13:45135747
|
G | A | 5 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(2): Show | 5 | HG02630.hp1 HG03098.hp2 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.67-986G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45135747 | ||||||
| chr13:45135955
|
A | C | 4 | a0001c0002t0001g0185a0001c0002t0001g0186a0001c0002t0001g0187others(1): Show | 4 | HG00423.hp2 HG01069.hp2 HG02273.hp1 others(1): Show |
intron_variant | MODIFIER | c.67-778A>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45135955 | ||||||
| chr13:45136019
|
C | T | 1 | a0001c0002t0001g0187 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.67-714C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45136019 | ||||||
| chr13:45136170
|
G | A | 25 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(22): Show | 25 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.67-563G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45136170 | ||||||
| chr13:45136361
|
G | A | 2 | a0001c0002t0001g0114a0001c0002t0001g0184 | 2 | HG01175.hp1 HG04199.hp2 |
intron_variant | MODIFIER | c.67-372G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45136361 | ||||||
| chr13:45136458
|
T | C | 1 | a0001c0002t0001g0112 | 1 | NA18957.hp2 | intron_variant | MODIFIER | c.67-275T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45136458 | ||||||
| chr13:45136579
|
T | A | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.67-154T>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45136579 | ||||||
| chr13:45136613
|
G | A | 105 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(102): Show | 105 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(102): Show |
intron_variant | MODIFIER | c.67-120G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45136613 | ||||||
| chr13:45136630
|
C | T | 8 | a0001c0002t0001g0107a0001c0002t0001g0113a0001c0002t0001g0195others(5): Show | 8 | HG00673.hp2 HG01261.hp2 HG01361.hp2 others(5): Show |
intron_variant | MODIFIER | c.67-103C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45136630 | ||||||
| chr13:45136723
|
T | A | 4 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(1): Show | 4 | HG01496.hp1 HG02723.hp2 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.67-10T>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | chr13 | 45136723 | ||||||
| chr13:45137319
|
A | T | 27 | a0001c0002t0001g0003a0001c0002t0001g0104a0001c0002t0001g0134others(24): Show | 27 | HG00609.hp1 HG00673.hp1 HG01106.hp1 others(24): Show |
intron_variant | MODIFIER | c.140+513A>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45137319 | ||||||
| chr13:45137457
|
A | G | 3 | a0001c0001t0001g0049a0001c0001t0001g0052a0001c0001t0001g0056 | 3 | HG02895.hp2 HG02897.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.140+651A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45137457 | ||||||
| chr13:45137528
|
A | G | 1 | a0001c0002t0001g0165 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.140+722A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45137528 | ||||||
| chr13:45137725
|
A | T | 1 | a0001c0001t0001g0072 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.140+919A>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45137725 | ||||||
| chr13:45137779
|
A | T | 1 | a0001c0002t0001g0111 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.140+973A>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45137779 | ||||||
| chr13:45137839
|
CTTAT | C | 133 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(130): Show | 133 | HG00280.hp2 HG00558.hp2 HG00609.hp1 others(130): Show |
intron_variant | MODIFIER | c.140+1052_140+1055d others(6): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr13 | 45137839 | |||||
| chr13:45137983
|
C | T | 1 | a0001c0002t0001g0111 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.140+1177C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45137983 | ||||||
| chr13:45138159
|
A | G | 3 | a0001c0002t0001g0141a0001c0002t0001g0142a0001c0002t0001g0166 | 3 | HG02015.hp2 HG02074.hp1 NA18971.hp2 |
intron_variant | MODIFIER | c.140+1353A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45138159 | ||||||
| chr13:45138333
|
G | A | 1 | a0001c0001t0002g0026 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.140+1527G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45138333 | ||||||
| chr13:45138537
|
T | C | 105 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(102): Show | 105 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(102): Show |
intron_variant | MODIFIER | c.140+1731T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45138537 | ||||||
| chr13:45138632
|
G | A | 25 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(22): Show | 25 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.140+1826G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45138632 | ||||||
| chr13:45138906
|
A | G | 2 | a0001c0002t0001g0132a0001c0002t0001g0189 | 2 | HG00738.hp2 HG01261.hp1 |
intron_variant | MODIFIER | c.140+2100A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45138906 | ||||||
| chr13:45139346
|
T | C | 6 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(3): Show | 6 | HG01496.hp1 HG02698.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.140+2540T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45139346 | ||||||
| chr13:45139465
|
T | G | 1 | a0001c0002t0001g0152 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.140+2659T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45139465 | ||||||
| chr13:45139482
|
T | G | 67 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(64): Show | 67 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(64): Show |
intron_variant | MODIFIER | c.140+2676T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45139482 | ||||||
| chr13:45139789
|
T | C | 25 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(22): Show | 25 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.140+2983T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45139789 | ||||||
| chr13:45139853
|
C | G | 2 | a0001c0001t0001g0011a0001c0001t0001g0018 | 2 | HG03491.hp1 HG03688.hp1 |
intron_variant | MODIFIER | c.140+3047C>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45139853 | ||||||
| chr13:45139867
|
G | A | 25 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(22): Show | 25 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.140+3061G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45139867 | ||||||
| chr13:45140107
|
C | T | 1 | a0001c0001t0001g0039 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.140+3301C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45140107 | ||||||
| chr13:45140384
|
G | A | 3 | a0001c0001t0001g0072a0001c0001t0001g0075a0001c0001t0004g0074 | 3 | HG01975.hp1 HG02809.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.140+3578G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45140384 | ||||||
| chr13:45140498
|
A | T | 2 | a0001c0002t0001g0105a0001c0002t0001g0177 | 2 | HG00609.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.140+3692A>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45140498 | ||||||
| chr13:45140595
|
A | G | 38 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(35): Show | 38 | HG00639.hp2 HG01109.hp2 HG01243.hp1 others(35): Show |
intron_variant | MODIFIER | c.140+3789A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45140595 | ||||||
| chr13:45140901
|
G | T | 1 | a0001c0001t0001g0208 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.140+4095G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45140901 | ||||||
| chr13:45141301
|
C | T | 2 | a0001c0001t0001g0075a0001c0001t0004g0074 | 2 | HG02809.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.140+4495C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45141301 | ||||||
| chr13:45141546
|
G | A | 1 | a0001c0002t0001g0175 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.140+4740G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45141546 | ||||||
| chr13:45141660
|
G | A | 24 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(21): Show | 24 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(21): Show |
intron_variant | MODIFIER | c.140+4854G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45141660 | ||||||
| chr13:45141817
|
T | A | 1 | a0001c0002t0001g0191 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.140+5011T>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45141817 | ||||||
| chr13:45141837
|
G | A | 1 | a0001c0001t0001g0072 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.140+5031G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45141837 | ||||||
| chr13:45142252
|
C | T | 1 | a0001c0001t0005g0210 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.140+5446C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45142252 | ||||||
| chr13:45142276
|
C | T | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.140+5470C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45142276 | ||||||
| chr13:45142431
|
G | A | 5 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(2): Show | 5 | HG02630.hp1 HG03098.hp2 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.140+5625G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45142431 | ||||||
| chr13:45142454
|
C | T | 6 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(3): Show | 6 | HG01496.hp1 HG02698.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.140+5648C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45142454 | ||||||
| chr13:45142481
|
A | T | 2 | a0001c0001t0001g0207a0001c0001t0001g0208 | 2 | HG02647.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.140+5675A>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45142481 | ||||||
| chr13:45142727
|
G | A | 1 | a0001c0002t0001g0142 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.140+5921G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45142727 | ||||||
| chr13:45142764
|
C | T | 1 | a0001c0002t0001g0171 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.140+5958C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45142764 | ||||||
| chr13:45142910
|
C | T | 1 | a0001c0001t0001g0008 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.140+6104C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45142910 | ||||||
| chr13:45143098
|
GA | G | 105 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(102): Show | 105 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(102): Show |
intron_variant | MODIFIER | c.140+6301delA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr13 | 45143098 | |||||
| chr13:45143110
|
A | C | 1 | a0001c0003t0001g0131 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.140+6304A>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45143110 | ||||||
| chr13:45143222
|
T | A | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.140+6416T>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45143222 | ||||||
| chr13:45143392
|
A | G | 13 | a0001c0002t0001g0104a0001c0002t0001g0137a0001c0002t0001g0152others(10): Show | 13 | HG00609.hp1 HG00673.hp1 NA18948.hp2 others(10): Show |
intron_variant | MODIFIER | c.141-6378A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45143392 | ||||||
| chr13:45143406
|
A | G | 1 | a0001c0002t0001g0149 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.141-6364A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45143406 | ||||||
| chr13:45143411
|
A | C | 2 | a0001c0001t0001g0207a0001c0001t0001g0208 | 2 | HG02647.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.141-6359A>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45143411 | ||||||
| chr13:45143449
|
G | A | 25 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(22): Show | 25 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(22): Show |
intron_variant | MODIFIER | c.141-6321G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45143449 | ||||||
| chr13:45143519
|
T | C | 105 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(102): Show | 105 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(102): Show |
intron_variant | MODIFIER | c.141-6251T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45143519 | ||||||
| chr13:45143638
|
G | A | 1 | a0001c0002t0001g0108 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.141-6132G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45143638 | ||||||
| chr13:45143673
|
T | A | 1 | a0001c0002t0001g0175 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.141-6097T>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45143673 | ||||||
| chr13:45143897
|
A | G | 55 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(52): Show | 55 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(52): Show |
intron_variant | MODIFIER | c.141-5873A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45143897 | ||||||
| chr13:45144168
|
C | T | 2 | a0001c0001t0001g0207a0001c0001t0001g0208 | 2 | HG02647.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.141-5602C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45144168 | ||||||
| chr13:45144238
|
C | T | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.141-5532C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45144238 | ||||||
| chr13:45144263
|
A | AG | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.141-5507_141-5506i others(3): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45144263 | ||||||
| chr13:45144263
|
A | G | 4 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(1): Show | 4 | HG01496.hp1 HG02723.hp2 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.141-5507A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45144263 | ||||||
| chr13:45144457
|
C | CTT | 6 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(3): Show | 6 | HG01496.hp1 HG01975.hp1 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.141-5293_141-5292d others(4): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr13 | 45144457 | |||||
| chr13:45144457
|
CT | C | 188 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(185): Show | 188 | HG00280.hp1 HG00280.hp2 HG00423.hp2 others(185): Show |
intron_variant | MODIFIER | c.141-5292delT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr13 | 45144457 | |||||
| chr13:45144522
|
G | A | 5 | a0001c0002t0001g0108a0001c0002t0001g0109a0001c0002t0001g0117others(2): Show | 5 | HG01975.hp2 HG02040.hp2 HG02083.hp2 others(2): Show |
intron_variant | MODIFIER | c.141-5248G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45144522 | ||||||
| chr13:45144524
|
G | A | 1 | a0001c0001t0001g0100 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.141-5246G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45144524 | ||||||
| chr13:45144632
|
G | A | 8 | a0001c0002t0001g0107a0001c0002t0001g0113a0001c0002t0001g0195others(5): Show | 8 | HG00673.hp2 HG01261.hp2 HG01361.hp2 others(5): Show |
intron_variant | MODIFIER | c.141-5138G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45144632 | ||||||
| chr13:45144695
|
C | T | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.141-5075C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45144695 | ||||||
| chr13:45144924
|
A | G | 1 | a0001c0001t0001g0073 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.141-4846A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45144924 | ||||||
| chr13:45145126
|
A | AT | 101 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(98): Show | 101 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(98): Show |
intron_variant | MODIFIER | c.141-4644_141-4643i others(3): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45145126 | ||||||
| chr13:45145221
|
G | C | 1 | a0001c0001t0001g0095 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.141-4549G>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45145221 | ||||||
| chr13:45145388
|
G | A | 40 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(37): Show | 40 | HG00639.hp2 HG01109.hp2 HG01243.hp1 others(37): Show |
intron_variant | MODIFIER | c.141-4382G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45145388 | ||||||
| chr13:45145520
|
C | T | 2 | a0001c0001t0001g0006a0001c0001t0001g0040 | 2 | HG02723.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.141-4250C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45145520 | ||||||
| chr13:45145702
|
T | C | 1 | a0001c0001t0001g0063 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.141-4068T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45145702 | ||||||
| chr13:45146293
|
C | T | 40 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(37): Show | 40 | HG00639.hp2 HG01109.hp2 HG01243.hp1 others(37): Show |
intron_variant | MODIFIER | c.141-3477C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45146293 | ||||||
| chr13:45146297
|
A | G | 23 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(20): Show | 23 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.141-3473A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45146297 | ||||||
| chr13:45146315
|
G | A | 1 | a0001c0002t0001g0118 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.141-3455G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45146315 | ||||||
| chr13:45146446
|
C | A | 1 | a0001c0001t0001g0058 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.141-3324C>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45146446 | ||||||
| chr13:45146521
|
A | C | 5 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(2): Show | 5 | HG02630.hp1 HG03098.hp2 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.141-3249A>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45146521 | ||||||
| chr13:45146551
|
G | A | 1 | a0001c0002t0001g0200 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.141-3219G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45146551 | ||||||
| chr13:45146573
|
G | T | 5 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(2): Show | 5 | HG02630.hp1 HG03098.hp2 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.141-3197G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45146573 | ||||||
| chr13:45146595
|
A | G | 1 | a0001c0002t0001g0141 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.141-3175A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45146595 | ||||||
| chr13:45146612
|
G | T | 1 | a0001c0002t0001g0142 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.141-3158G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45146612 | ||||||
| chr13:45146659
|
A | G | 1 | a0001c0002t0001g0129 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.141-3111A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45146659 | ||||||
| chr13:45147065
|
G | A | 23 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(20): Show | 23 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.141-2705G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45147065 | ||||||
| chr13:45147279
|
A | G | 1 | a0001c0002t0001g0113 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.141-2491A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45147279 | ||||||
| chr13:45147398
|
G | A | 40 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(37): Show | 40 | HG00639.hp2 HG01109.hp2 HG01243.hp1 others(37): Show |
intron_variant | MODIFIER | c.141-2372G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45147398 | ||||||
| chr13:45147474
|
G | T | 1 | a0001c0001t0001g0012 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.141-2296G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45147474 | ||||||
| chr13:45147547
|
C | CA | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.141-2222dupA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr13 | 45147547 | |||||
| chr13:45147822
|
A | G | 1 | a0001c0002t0001g0002 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.141-1948A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45147822 | ||||||
| chr13:45147898
|
A | G | 2 | a0001c0001t0001g0207a0001c0001t0001g0208 | 2 | HG02647.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.141-1872A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45147898 | ||||||
| chr13:45147998
|
C | T | 1 | a0001c0001t0001g0019 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.141-1772C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45147998 | ||||||
| chr13:45148032
|
G | A | 5 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(2): Show | 5 | HG02630.hp1 HG03098.hp2 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.141-1738G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45148032 | ||||||
| chr13:45148045
|
T | C | 105 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(102): Show | 105 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(102): Show |
intron_variant | MODIFIER | c.141-1725T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45148045 | ||||||
| chr13:45148048
|
T | G | 5 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(2): Show | 5 | HG02630.hp1 HG03098.hp2 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.141-1722T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45148048 | ||||||
| chr13:45148167
|
A | G | 1 | a0001c0001t0001g0087 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.141-1603A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45148167 | ||||||
| chr13:45148180
|
G | A | 1 | a0001c0002t0001g0118 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.141-1590G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45148180 | ||||||
| chr13:45148368
|
A | T | 25 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(22): Show | 25 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(22): Show |
intron_variant | MODIFIER | c.141-1402A>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45148368 | ||||||
| chr13:45148369
|
G | T | 25 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(22): Show | 25 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(22): Show |
intron_variant | MODIFIER | c.141-1401G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45148369 | ||||||
| chr13:45148370
|
C | T | 25 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(22): Show | 25 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(22): Show |
intron_variant | MODIFIER | c.141-1400C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45148370 | ||||||
| chr13:45148654
|
T | C | 105 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(102): Show | 105 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(102): Show |
intron_variant | MODIFIER | c.141-1116T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45148654 | ||||||
| chr13:45148668
|
T | C | 1 | a0001c0001t0001g0023 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.141-1102T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45148668 | ||||||
| chr13:45148866
|
C | T | 6 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(3): Show | 6 | HG01496.hp1 HG02698.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.141-904C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45148866 | ||||||
| chr13:45148971
|
A | G | 27 | a0001c0002t0001g0003a0001c0002t0001g0104a0001c0002t0001g0134others(24): Show | 27 | HG00609.hp1 HG00673.hp1 HG01106.hp1 others(24): Show |
intron_variant | MODIFIER | c.141-799A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45148971 | ||||||
| chr13:45149059
|
G | A | 105 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(102): Show | 105 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(102): Show |
intron_variant | MODIFIER | c.141-711G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45149059 | ||||||
| chr13:45149183
|
A | G | 5 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(2): Show | 5 | HG02630.hp1 HG03098.hp2 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.141-587A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45149183 | ||||||
| chr13:45149261
|
C | A | 1 | a0001c0002t0001g0173 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.141-509C>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45149261 | ||||||
| chr13:45149413
|
A | G | 1 | a0001c0001t0001g0068 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.141-357A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45149413 | ||||||
| chr13:45149433
|
CA | C | 50 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(47): Show | 50 | HG00639.hp2 HG01069.hp2 HG01243.hp1 others(47): Show |
intron_variant | MODIFIER | c.141-320delA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr13 | 45149433 | |||||
| chr13:45149433
|
CAA | C | 55 | a0001c0001t0001g0011a0001c0001t0001g0041a0001c0001t0001g0042others(52): Show | 55 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(52): Show |
intron_variant | MODIFIER | c.141-321_141-320del others(2): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr13 | 45149433 | |||||
| chr13:45149464
|
T | C | 55 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(52): Show | 55 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(52): Show |
intron_variant | MODIFIER | c.141-306T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | chr13 | 45149464 | ||||||
| chr13:45149688
|
G | GT | 59 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(56): Show | 59 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(56): Show |
intron_variant | MODIFIER | c.141-73dupT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr13 | 45149688 | |||||
| chr13:45149794
|
ATTAT | A | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.159+11_159+14delTT others(2): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | 45149794 | |||||
| chr13:45149806
|
G | A | 1 | a0001c0001t0001g0066 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.159+18G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 3/7 | chr13 | 45149806 | ||||||
| chr13:45149893
|
C | T | 1 | a0001c0002t0001g0175 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.159+105C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 3/7 | chr13 | 45149893 | ||||||
| chr13:45149918
|
A | G | 27 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(24): Show | 27 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(24): Show |
intron_variant | MODIFIER | c.159+130A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 3/7 | chr13 | 45149918 | ||||||
| chr13:45150057
|
C | T | 1 | a0001c0001t0001g0101 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.159+269C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 3/7 | chr13 | 45150057 | ||||||
| chr13:45150334
|
A | G | 5 | a0001c0001t0001g0077a0001c0001t0001g0090a0001c0001t0001g0093others(2): Show | 5 | HG01069.hp1 HG01071.hp1 HG01891.hp1 others(2): Show |
intron_variant | MODIFIER | c.159+546A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 3/7 | chr13 | 45150334 | ||||||
| chr13:45150486
|
T | C | 65 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(62): Show | 65 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(62): Show |
intron_variant | MODIFIER | c.159+698T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 3/7 | chr13 | 45150486 | ||||||
| chr13:45150647
|
GA | G | 53 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(50): Show | 53 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(50): Show |
intron_variant | MODIFIER | c.159+871delA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | 45150647 | |||||
| chr13:45150648
|
A | G | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.159+860A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 3/7 | chr13 | 45150648 | ||||||
| chr13:45150664
|
C | CTTTTTTT others(3): Show |
45 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(42): Show | 45 | HG00639.hp2 HG01109.hp2 HG01243.hp1 others(42): Show |
intron_variant | MODIFIER | c.159+880_159+889dup others(10): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | 45150664 | |||||
| chr13:45150664
|
C | CTTTTTTT others(4): Show |
28 | a0001c0001t0001g0015a0001c0001t0001g0066a0001c0001t0001g0067others(25): Show | 28 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(25): Show |
intron_variant | MODIFIER | c.159+879_159+889dup others(11): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | 45150664 | |||||
| chr13:45150664
|
C | CTTTTTTT others(5): Show |
3 | a0001c0001t0001g0052a0001c0001t0001g0080a0001c0001t0005g0210 | 3 | HG02897.hp2 HG03453.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.159+878_159+889dup others(12): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | 45150664 | |||||
| chr13:45150664
|
C | CTTTTTTT others(6): Show |
15 | a0001c0001t0001g0043a0001c0001t0001g0046a0001c0001t0001g0047others(12): Show | 15 | HG00558.hp2 HG01109.hp1 HG02451.hp1 others(12): Show |
intron_variant | MODIFIER | c.159+877_159+889dup others(13): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | 45150664 | |||||
| chr13:45150664
|
C | CTTTTTTT others(7): Show |
8 | a0001c0001t0001g0041a0001c0001t0001g0044a0001c0001t0001g0048others(5): Show | 8 | HG01074.hp1 HG01192.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.159+889_159+890ins others(14): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | 45150664 | |||||
| chr13:45150664
|
C | CTTTTTTT others(8): Show |
1 | a0001c0001t0001g0042 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.159+889_159+890ins others(15): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | 45150664 | |||||
| chr13:45150726
|
T | G | 2 | a0001c0001t0001g0006a0001c0001t0001g0040 | 2 | HG02723.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.159+938T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 3/7 | chr13 | 45150726 | ||||||
| chr13:45151154
|
A | G | 1 | a0001c0002t0001g0103 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.160-533A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 3/7 | chr13 | 45151154 | ||||||
| chr13:45151161
|
T | C | 21 | a0001c0002t0001g0003a0001c0002t0001g0104a0001c0002t0001g0137others(18): Show | 21 | HG00423.hp1 HG00609.hp1 HG00673.hp1 others(18): Show |
intron_variant | MODIFIER | c.160-526T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 3/7 | chr13 | 45151161 | ||||||
| chr13:45151432
|
G | A | 23 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(20): Show | 23 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.160-255G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 3/7 | chr13 | 45151432 | ||||||
| chr13:45151628
|
A | T | 59 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(56): Show | 59 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(56): Show |
intron_variant | MODIFIER | c.160-59A>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 3/7 | chr13 | 45151628 | ||||||
| chr13:45151639
|
G | A | 2 | a0001c0001t0001g0207a0001c0001t0001g0208 | 2 | HG02647.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.160-48G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 3/7 | chr13 | 45151639 | ||||||
| chr13:45151911
|
C | CT | 39 | a0001c0001t0001g0030a0001c0001t0001g0041a0001c0001t0001g0042others(36): Show | 39 | HG00558.hp2 HG00738.hp1 HG01069.hp2 others(36): Show |
intron_variant | MODIFIER | c.304+101dupT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45151911 | |||||
| chr13:45151911
|
C | CTT | 13 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0047others(10): Show | 13 | HG01109.hp1 HG01175.hp2 HG01192.hp2 others(10): Show |
intron_variant | MODIFIER | c.304+100_304+101dup others(2): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45151911 | |||||
| chr13:45151911
|
CT | C | 9 | a0001c0001t0001g0037a0001c0001t0001g0070a0001c0001t0001g0071others(6): Show | 9 | HG00639.hp2 HG01070.hp1 HG01496.hp1 others(6): Show |
intron_variant | MODIFIER | c.304+101delT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45151911 | |||||
| chr13:45151911
|
CTTTTTTT others(5): Show |
C | 1 | a0001c0001t0001g0092 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.304+90_304+101delT others(11): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45151911 | |||||
| chr13:45151992
|
T | C | 105 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(102): Show | 105 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(102): Show |
intron_variant | MODIFIER | c.304+161T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45151992 | ||||||
| chr13:45152207
|
A | G | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.304+376A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45152207 | ||||||
| chr13:45152224
|
C | G | 1 | a0001c0001t0001g0072 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.304+393C>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45152224 | ||||||
| chr13:45152557
|
C | T | 1 | a0001c0002t0001g0108 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.304+726C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45152557 | ||||||
| chr13:45152629
|
C | T | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.304+798C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45152629 | ||||||
| chr13:45152906
|
A | G | 4 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(1): Show | 4 | HG02630.hp1 HG03098.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.304+1075A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45152906 | ||||||
| chr13:45153011
|
A | AT | 5 | a0001c0001t0001g0011a0001c0001t0001g0018a0001c0001t0001g0019others(2): Show | 5 | HG01934.hp1 HG02622.hp1 HG02698.hp1 others(2): Show |
intron_variant | MODIFIER | c.304+1197dupT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45153011 | |||||
| chr13:45153011
|
AT | A | 64 | a0001c0001t0001g0033a0001c0001t0001g0041a0001c0001t0001g0042others(61): Show | 64 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(61): Show |
intron_variant | MODIFIER | c.304+1197delT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45153011 | |||||
| chr13:45153033
|
C | T | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.304+1202C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45153033 | ||||||
| chr13:45153078
|
C | T | 1 | a0001c0002t0001g0182 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.304+1247C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45153078 | ||||||
| chr13:45153176
|
AT | A | 6 | a0001c0001t0001g0019a0001c0001t0001g0023a0001c0001t0001g0072others(3): Show | 6 | HG01934.hp1 HG01975.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.304+1360delT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45153176 | |||||
| chr13:45153220
|
G | C | 6 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(3): Show | 6 | HG01496.hp1 HG02698.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.304+1389G>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45153220 | ||||||
| chr13:45153260
|
C | T | 1 | a0001c0002t0001g0140 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.304+1429C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45153260 | ||||||
| chr13:45153318
|
G | C | 1 | a0001c0001t0001g0072 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.304+1487G>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45153318 | ||||||
| chr13:45153333
|
T | G | 1 | a0001c0002t0001g0111 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.304+1502T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45153333 | ||||||
| chr13:45153373
|
A | C | 1 | a0001c0002t0001g0167 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.304+1542A>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45153373 | ||||||
| chr13:45153411
|
T | C | 1 | a0001c0001t0001g0060 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.304+1580T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45153411 | ||||||
| chr13:45153594
|
G | A | 59 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(56): Show | 59 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(56): Show |
intron_variant | MODIFIER | c.304+1763G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45153594 | ||||||
| chr13:45153838
|
G | C | 1 | a0001c0002t0001g0161 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.304+2007G>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45153838 | ||||||
| chr13:45153931
|
T | C | 59 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(56): Show | 59 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(56): Show |
intron_variant | MODIFIER | c.304+2100T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45153931 | ||||||
| chr13:45153976
|
C | CA | 45 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(42): Show | 45 | HG00423.hp1 HG00423.hp2 HG00639.hp2 others(42): Show |
intron_variant | MODIFIER | c.304+2169dupA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45153976 | |||||
| chr13:45153976
|
C | CAA | 7 | a0001c0001t0001g0006a0001c0001t0001g0023a0001c0001t0001g0034others(4): Show | 7 | HG01109.hp2 HG01361.hp1 HG01934.hp1 others(4): Show |
intron_variant | MODIFIER | c.304+2168_304+2169d others(4): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45153976 | |||||
| chr13:45153976
|
CA | C | 8 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(5): Show | 8 | HG01975.hp1 HG02630.hp1 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.304+2169delA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45153976 | |||||
| chr13:45153976
|
CAAAAAAA others(5): Show |
C | 25 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(22): Show | 25 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(22): Show |
intron_variant | MODIFIER | c.304+2158_304+2169d others(14): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45153976 | |||||
| chr13:45154173
|
G | C | 2 | a0001c0002t0003g0133a0001c0002t0003g0181 | 2 | HG02280.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.304+2342G>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45154173 | ||||||
| chr13:45154196
|
A | C | 3 | a0001c0002t0001g0134a0001c0002t0001g0135a0001c0002t0001g0180 | 3 | NA18906.hp1 NA20129.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.304+2365A>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45154196 | ||||||
| chr13:45154365
|
C | G | 1 | a0001c0001t0004g0074 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.304+2534C>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45154365 | ||||||
| chr13:45154492
|
A | G | 23 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(20): Show | 23 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.304+2661A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45154492 | ||||||
| chr13:45154544
|
A | G | 3 | a0001c0001t0001g0008a0001c0001t0001g0016a0001c0001t0001g0017 | 3 | NA18954.hp1 NA18962.hp1 NA18982.hp2 |
intron_variant | MODIFIER | c.304+2713A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45154544 | ||||||
| chr13:45154555
|
T | A | 1 | a0001c0002t0001g0111 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.304+2724T>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45154555 | ||||||
| chr13:45154556
|
A | T | 1 | a0001c0002t0001g0111 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.304+2725A>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45154556 | ||||||
| chr13:45154756
|
T | C | 25 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(22): Show | 25 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(22): Show |
intron_variant | MODIFIER | c.304+2925T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45154756 | ||||||
| chr13:45154836
|
A | G | 2 | a0001c0002t0001g0118a0001c0002t0001g0125 | 2 | HG03834.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.304+3005A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45154836 | ||||||
| chr13:45154844
|
G | T | 2 | a0001c0001t0001g0070a0001c0001t0001g0071 | 2 | HG02723.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.304+3013G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45154844 | ||||||
| chr13:45155069
|
T | C | 25 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(22): Show | 25 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(22): Show |
intron_variant | MODIFIER | c.304+3238T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45155069 | ||||||
| chr13:45155076
|
A | G | 23 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(20): Show | 23 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.304+3245A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45155076 | ||||||
| chr13:45155106
|
C | A | 1 | a0001c0002t0001g0171 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.304+3275C>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45155106 | ||||||
| chr13:45155345
|
T | C | 2 | a0001c0001t0001g0011a0001c0001t0001g0018 | 2 | HG03491.hp1 HG03688.hp1 |
intron_variant | MODIFIER | c.304+3514T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45155345 | ||||||
| chr13:45155361
|
C | A | 6 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(3): Show | 6 | HG01496.hp1 HG02698.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.304+3530C>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45155361 | ||||||
| chr13:45155450
|
T | C | 22 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(19): Show | 22 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(19): Show |
intron_variant | MODIFIER | c.304+3619T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45155450 | ||||||
| chr13:45155496
|
G | A | 27 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(24): Show | 27 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(24): Show |
intron_variant | MODIFIER | c.304+3665G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45155496 | ||||||
| chr13:45155769
|
A | G | 1 | a0001c0002t0001g0118 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.304+3938A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45155769 | ||||||
| chr13:45155990
|
G | T | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.304+4159G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45155990 | ||||||
| chr13:45156253
|
A | G | 1 | a0001c0002t0001g0136 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.304+4422A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45156253 | ||||||
| chr13:45156316
|
A | G | 1 | a0001c0001t0001g0019 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.304+4485A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45156316 | ||||||
| chr13:45156324
|
T | C | 6 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0034others(3): Show | 6 | HG01109.hp2 HG01361.hp1 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.304+4493T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45156324 | ||||||
| chr13:45156667
|
G | A | 1 | a0001c0002t0001g0107 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.304+4836G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45156667 | ||||||
| chr13:45156711
|
G | A | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.304+4880G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45156711 | ||||||
| chr13:45156803
|
C | T | 4 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(1): Show | 4 | HG02630.hp1 HG03098.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.304+4972C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45156803 | ||||||
| chr13:45156823
|
C | T | 27 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(24): Show | 27 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(24): Show |
intron_variant | MODIFIER | c.304+4992C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45156823 | ||||||
| chr13:45157398
|
A | T | 105 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(102): Show | 105 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(102): Show |
intron_variant | MODIFIER | c.304+5567A>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45157398 | ||||||
| chr13:45157475
|
G | A | 1 | a0001c0001t0001g0205 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.304+5644G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45157475 | ||||||
| chr13:45157515
|
TC | T | 23 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(20): Show | 23 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.304+5686delC | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45157515 | |||||
| chr13:45157561
|
CAG | C | 40 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(37): Show | 40 | HG00639.hp2 HG01109.hp2 HG01243.hp1 others(37): Show |
intron_variant | MODIFIER | c.304+5734_304+5735d others(4): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45157561 | |||||
| chr13:45157697
|
C | G | 6 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(3): Show | 6 | HG01496.hp1 HG02698.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.304+5866C>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45157697 | ||||||
| chr13:45157697
|
C | T | 1 | a0001c0001t0001g0088 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.304+5866C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45157697 | ||||||
| chr13:45157885
|
G | T | 1 | a0001c0001t0001g0006 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.304+6054G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45157885 | ||||||
| chr13:45157958
|
A | G | 1 | a0001c0002t0001g0114 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.304+6127A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45157958 | ||||||
| chr13:45158414
|
T | C | 1 | a0001c0002t0001g0206 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.304+6583T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45158414 | ||||||
| chr13:45158423
|
T | C | 1 | a0001c0002t0001g0121 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.304+6592T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45158423 | ||||||
| chr13:45158683
|
G | A | 1 | a0001c0001t0002g0029 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.304+6852G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45158683 | ||||||
| chr13:45158922
|
C | T | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.304+7091C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45158922 | ||||||
| chr13:45159161
|
A | G | 2 | a0001c0001t0001g0006a0001c0001t0001g0040 | 2 | HG02723.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.304+7330A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45159161 | ||||||
| chr13:45159172
|
G | C | 5 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(2): Show | 5 | HG02630.hp1 HG03098.hp2 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.304+7341G>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45159172 | ||||||
| chr13:45159407
|
T | C | 27 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(24): Show | 27 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(24): Show |
intron_variant | MODIFIER | c.304+7576T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45159407 | ||||||
| chr13:45159476
|
C | T | 55 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(52): Show | 55 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(52): Show |
intron_variant | MODIFIER | c.304+7645C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45159476 | ||||||
| chr13:45159618
|
G | T | 1 | a0001c0002t0001g0120 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.304+7787G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45159618 | ||||||
| chr13:45159664
|
G | A | 3 | a0001c0001t0001g0008a0001c0001t0001g0016a0001c0001t0001g0017 | 3 | NA18954.hp1 NA18962.hp1 NA18982.hp2 |
intron_variant | MODIFIER | c.304+7833G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45159664 | ||||||
| chr13:45159674
|
A | C | 27 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(24): Show | 27 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(24): Show |
intron_variant | MODIFIER | c.304+7843A>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45159674 | ||||||
| chr13:45159733
|
C | A | 2 | a0001c0001t0001g0207a0001c0001t0001g0208 | 2 | HG02647.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.304+7902C>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45159733 | ||||||
| chr13:45159844
|
T | G | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.304+8013T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45159844 | ||||||
| chr13:45160046
|
A | T | 5 | a0001c0001t0001g0077a0001c0001t0001g0090a0001c0001t0001g0093others(2): Show | 5 | HG01069.hp1 HG01071.hp1 HG01891.hp1 others(2): Show |
intron_variant | MODIFIER | c.304+8215A>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45160046 | ||||||
| chr13:45160146
|
A | C | 5 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(2): Show | 5 | HG02630.hp1 HG03098.hp2 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.304+8315A>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45160146 | ||||||
| chr13:45160436
|
A | G | 3 | a0001c0001t0001g0078a0001c0001t0001g0079a0001c0001t0001g0080 | 3 | HG03516.hp2 HG03579.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.304+8605A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45160436 | ||||||
| chr13:45160523
|
A | G | 27 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(24): Show | 27 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(24): Show |
intron_variant | MODIFIER | c.304+8692A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45160523 | ||||||
| chr13:45160591
|
C | T | 30 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(27): Show | 30 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(27): Show |
intron_variant | MODIFIER | c.304+8760C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45160591 | ||||||
| chr13:45160675
|
G | A | 4 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(1): Show | 4 | HG02630.hp1 HG03098.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.304+8844G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45160675 | ||||||
| chr13:45160681
|
T | G | 1 | a0001c0002t0001g0140 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.304+8850T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45160681 | ||||||
| chr13:45160766
|
G | GT | 39 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(36): Show | 39 | HG00639.hp2 HG01109.hp2 HG01243.hp1 others(36): Show |
intron_variant | MODIFIER | c.304+8949dupT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45160766 | |||||
| chr13:45160766
|
G | GTT | 8 | a0001c0001t0001g0008a0001c0001t0001g0017a0001c0001t0001g0070others(5): Show | 8 | HG01496.hp1 HG02698.hp2 HG02723.hp2 others(5): Show |
intron_variant | MODIFIER | c.304+8948_304+8949d others(4): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45160766 | |||||
| chr13:45160766
|
GT | G | 30 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(27): Show | 30 | HG00558.hp2 HG01074.hp1 HG01192.hp2 others(27): Show |
intron_variant | MODIFIER | c.304+8949delT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45160766 | |||||
| chr13:45160766
|
GTT | G | 30 | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0001g0048others(27): Show | 30 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(27): Show |
intron_variant | MODIFIER | c.304+8948_304+8949d others(4): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45160766 | |||||
| chr13:45161101
|
T | A | 1 | a0001c0001t0002g0009 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.304+9270T>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45161101 | ||||||
| chr13:45161293
|
T | C | 1 | a0001c0002t0001g0182 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.304+9462T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45161293 | ||||||
| chr13:45161877
|
T | TA | 6 | a0001c0001t0001g0010a0001c0001t0001g0013a0001c0001t0001g0014others(3): Show | 6 | HG01891.hp2 HG02451.hp2 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.304+10048dupA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45161877 | |||||
| chr13:45162052
|
G | A | 1 | a0001c0002t0001g0173 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.304+10221G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45162052 | ||||||
| chr13:45162195
|
G | A | 1 | a0001c0002t0001g0178 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.304+10364G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45162195 | ||||||
| chr13:45162204
|
G | C | 1 | a0001c0001t0001g0072 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.304+10373G>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45162204 | ||||||
| chr13:45162209
|
A | G | 1 | a0001c0001t0001g0094 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.304+10378A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45162209 | ||||||
| chr13:45162270
|
C | G | 3 | a0001c0001t0001g0008a0001c0001t0001g0016a0001c0001t0001g0017 | 3 | NA18954.hp1 NA18962.hp1 NA18982.hp2 |
intron_variant | MODIFIER | c.304+10439C>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45162270 | ||||||
| chr13:45162588
|
A | G | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.304+10757A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45162588 | ||||||
| chr13:45162663
|
A | T | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.304+10832A>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45162663 | ||||||
| chr13:45162795
|
G | T | 7 | a0001c0001t0001g0043a0001c0001t0001g0046a0001c0001t0001g0047others(4): Show | 7 | HG01109.hp1 HG02451.hp1 HG02895.hp2 others(4): Show |
intron_variant | MODIFIER | c.304+10964G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45162795 | ||||||
| chr13:45163085
|
A | G | 6 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(3): Show | 6 | HG01496.hp1 HG02698.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.304+11254A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45163085 | ||||||
| chr13:45163412
|
T | C | 1 | a0001c0002t0001g0187 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.304+11581T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45163412 | ||||||
| chr13:45163569
|
C | A | 105 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(102): Show | 105 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(102): Show |
intron_variant | MODIFIER | c.304+11738C>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45163569 | ||||||
| chr13:45163570
|
G | A | 1 | a0001c0002t0001g0111 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.304+11739G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45163570 | ||||||
| chr13:45163962
|
T | C | 17 | a0001c0002t0001g0003a0001c0002t0001g0104a0001c0002t0001g0137others(14): Show | 17 | HG00609.hp1 HG00673.hp1 HG02015.hp1 others(14): Show |
intron_variant | MODIFIER | c.304+12131T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45163962 | ||||||
| chr13:45164406
|
A | G | 1 | a0001c0002t0001g0104 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.304+12575A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45164406 | ||||||
| chr13:45164666
|
G | GT | 29 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0076others(26): Show | 29 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(26): Show |
intron_variant | MODIFIER | c.304+12836dupT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45164666 | |||||
| chr13:45165098
|
A | G | 2 | a0001c0001t0001g0036a0001c0001t0001g0038 | 2 | HG01361.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.304+13267A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45165098 | ||||||
| chr13:45165103
|
G | A | 1 | a0001c0001t0001g0063 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.304+13272G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45165103 | ||||||
| chr13:45165289
|
A | G | 1 | a0001c0002t0001g0002 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.304+13458A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45165289 | ||||||
| chr13:45165310
|
A | T | 1 | a0001c0002t0001g0167 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.304+13479A>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45165310 | ||||||
| chr13:45165327
|
A | AT | 6 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0072others(3): Show | 6 | HG01975.hp1 HG02622.hp2 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.304+13497dupT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45165327 | |||||
| chr13:45165328
|
TA | T | 20 | a0001c0001t0001g0065a0001c0002t0001g0003a0001c0002t0001g0104others(17): Show | 20 | HG00609.hp1 HG00673.hp1 HG01106.hp1 others(17): Show |
intron_variant | MODIFIER | c.304+13498delA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45165328 | ||||||
| chr13:45165329
|
A | AT | 5 | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0036others(2): Show | 5 | HG01109.hp2 HG01361.hp1 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.304+13499dupT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45165329 | |||||
| chr13:45165329
|
A | T | 9 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0066others(6): Show | 9 | HG01975.hp1 HG02622.hp2 HG02630.hp1 others(6): Show |
intron_variant | MODIFIER | c.304+13498A>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45165329 | ||||||
| chr13:45165330
|
TA | T | 15 | a0001c0001t0001g0058a0001c0001t0001g0059a0001c0001t0001g0060others(12): Show | 15 | HG00558.hp2 HG02074.hp2 HG02257.hp2 others(12): Show |
intron_variant | MODIFIER | c.304+13500delA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45165330 | ||||||
| chr13:45165331
|
A | AT | 7 | a0001c0001t0001g0081a0001c0001t0001g0085a0001c0001t0001g0086others(4): Show | 7 | HG01070.hp1 HG02698.hp2 HG02896.hp1 others(4): Show |
intron_variant | MODIFIER | c.304+13510dupT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45165331 | |||||
| chr13:45165331
|
A | ATT | 19 | a0001c0001t0001g0016a0001c0001t0001g0070a0001c0001t0001g0071others(16): Show | 19 | HG00738.hp1 HG01069.hp1 HG01071.hp1 others(16): Show |
intron_variant | MODIFIER | c.304+13509_304+1351 others(6): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45165331 | |||||
| chr13:45165331
|
A | T | 73 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(70): Show | 73 | HG00280.hp2 HG00609.hp1 HG00639.hp1 others(70): Show |
intron_variant | MODIFIER | c.304+13500A>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45165331 | ||||||
| chr13:45165331
|
AT | A | 15 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(12): Show | 15 | HG01074.hp1 HG01109.hp1 HG01192.hp2 others(12): Show |
intron_variant | MODIFIER | c.304+13510delT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45165331 | |||||
| chr13:45165333
|
T | A | 4 | a0001c0002t0001g0122a0001c0002t0001g0186a0001c0002t0001g0194others(1): Show | 4 | HG01069.hp2 HG01496.hp2 HG02273.hp1 others(1): Show |
intron_variant | MODIFIER | c.304+13502T>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45165333 | ||||||
| chr13:45165543
|
T | A | 6 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(3): Show | 6 | HG01496.hp1 HG02698.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.304+13712T>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45165543 | ||||||
| chr13:45165566
|
CG | C | 86 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(83): Show | 86 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(83): Show |
intron_variant | MODIFIER | c.304+13736delG | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45165566 | ||||||
| chr13:45165567
|
G | C | 15 | a0001c0001t0001g0013a0001c0001t0001g0015a0001c0001t0001g0023others(12): Show | 15 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(12): Show |
intron_variant | MODIFIER | c.304+13736G>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45165567 | ||||||
| chr13:45165572
|
C | G | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.304+13741C>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45165572 | ||||||
| chr13:45165574
|
C | G | 55 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(52): Show | 55 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(52): Show |
intron_variant | MODIFIER | c.304+13743C>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45165574 | ||||||
| chr13:45165580
|
G | A | 1 | a0001c0002t0001g0113 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.304+13749G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45165580 | ||||||
| chr13:45165806
|
C | CT | 8 | a0001c0002t0001g0111a0001c0002t0001g0120a0001c0002t0001g0136others(5): Show | 8 | HG01106.hp2 HG01243.hp2 HG02074.hp1 others(5): Show |
intron_variant | MODIFIER | c.304+13999dupT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45165806 | |||||
| chr13:45165806
|
CT | C | 42 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(39): Show | 42 | HG00639.hp2 HG01109.hp2 HG01243.hp1 others(39): Show |
intron_variant | MODIFIER | c.304+13999delT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45165806 | |||||
| chr13:45165806
|
CTT | C | 6 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(3): Show | 6 | HG01496.hp1 HG02698.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.304+13998_304+1399 others(6): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45165806 | |||||
| chr13:45165806
|
CTTTT | C | 25 | a0001c0001t0001g0069a0001c0001t0001g0077a0001c0001t0001g0078others(22): Show | 25 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(22): Show |
intron_variant | MODIFIER | c.304+13996_304+1399 others(8): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45165806 | |||||
| chr13:45165806
|
CTTTTT | C | 31 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(28): Show | 31 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(28): Show |
intron_variant | MODIFIER | c.304+13995_304+1399 others(9): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45165806 | |||||
| chr13:45165882
|
C | T | 5 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(2): Show | 5 | HG02630.hp1 HG03098.hp2 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.304+14051C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45165882 | ||||||
| chr13:45165906
|
C | G | 1 | a0001c0001t0001g0083 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.304+14075C>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45165906 | ||||||
| chr13:45165948
|
G | T | 1 | a0001c0002t0001g0204 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.304+14117G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45165948 | ||||||
| chr13:45165962
|
C | T | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.304+14131C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45165962 | ||||||
| chr13:45166063
|
A | G | 59 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(56): Show | 59 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(56): Show |
intron_variant | MODIFIER | c.304+14232A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45166063 | ||||||
| chr13:45166542
|
G | A | 1 | a0001c0002t0001g0182 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.304+14711G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45166542 | ||||||
| chr13:45166639
|
C | T | 1 | a0001c0001t0001g0098 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.304+14808C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45166639 | ||||||
| chr13:45166656
|
G | T | 3 | a0001c0002t0001g0106a0001c0002t0001g0121a0001c0002t0001g0124 | 3 | HG00280.hp1 HG03704.hp1 NA19060.hp1 |
intron_variant | MODIFIER | c.304+14825G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45166656 | ||||||
| chr13:45166703
|
G | T | 6 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(3): Show | 6 | HG01496.hp1 HG02698.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.304+14872G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45166703 | ||||||
| chr13:45166709
|
G | A | 1 | a0001c0001t0001g0088 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.304+14878G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45166709 | ||||||
| chr13:45166745
|
A | G | 1 | a0001c0002t0001g0106 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.304+14914A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45166745 | ||||||
| chr13:45166777
|
A | G | 1 | a0001c0002t0001g0135 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.304+14946A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45166777 | ||||||
| chr13:45166805
|
T | C | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.304+14974T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45166805 | ||||||
| chr13:45166809
|
A | G | 27 | a0001c0002t0001g0003a0001c0002t0001g0104a0001c0002t0001g0134others(24): Show | 27 | HG00609.hp1 HG00673.hp1 HG01106.hp1 others(24): Show |
intron_variant | MODIFIER | c.304+14978A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45166809 | ||||||
| chr13:45166859
|
T | A | 1 | a0001c0002t0001g0143 | 1 | NA18980.hp1 | intron_variant | MODIFIER | c.304+15028T>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45166859 | ||||||
| chr13:45166998
|
G | A | 3 | a0001c0001t0001g0084a0001c0001t0001g0087a0001c0001t0001g0102 | 3 | HG01099.hp2 HG01123.hp1 HG03490.hp1 |
intron_variant | MODIFIER | c.304+15167G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45166998 | ||||||
| chr13:45167092
|
CT | C | 12 | a0001c0001t0001g0004a0001c0001t0001g0017a0001c0001t0001g0041others(9): Show | 12 | HG00558.hp1 HG01361.hp2 HG02015.hp2 others(9): Show |
intron_variant | MODIFIER | c.304+15277delT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45167092 | |||||
| chr13:45167232
|
A | AT | 10 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(7): Show | 10 | HG01099.hp1 HG01496.hp1 HG02630.hp2 others(7): Show |
intron_variant | MODIFIER | c.304+15420dupT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45167232 | |||||
| chr13:45167232
|
A | T | 1 | a0001c0002t0001g0141 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.304+15401A>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45167232 | ||||||
| chr13:45167232
|
AT | A | 56 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(53): Show | 56 | HG00639.hp2 HG01069.hp1 HG01109.hp2 others(53): Show |
intron_variant | MODIFIER | c.304+15420delT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45167232 | |||||
| chr13:45167236
|
T | A | 6 | a0001c0001t0002g0020a0001c0001t0002g0022a0001c0001t0002g0027others(3): Show | 6 | HG02258.hp2 HG02280.hp2 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.304+15405T>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45167236 | ||||||
| chr13:45167396
|
A | AT | 10 | a0001c0001t0001g0005a0001c0001t0001g0053a0001c0001t0001g0070others(7): Show | 10 | HG01496.hp1 HG02622.hp2 HG02698.hp2 others(7): Show |
intron_variant | MODIFIER | c.304+15585dupT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45167396 | |||||
| chr13:45167396
|
A | ATTT | 5 | a0001c0001t0001g0056a0001c0001t0001g0057a0001c0001t0001g0072others(2): Show | 5 | HG01975.hp1 HG02647.hp2 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.304+15583_304+1558 others(7): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45167396 | |||||
| chr13:45167396
|
A | ATTTT | 47 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(44): Show | 47 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(44): Show |
intron_variant | MODIFIER | c.304+15582_304+1558 others(8): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45167396 | |||||
| chr13:45167396
|
A | T | 2 | a0001c0001t0001g0207a0001c0001t0001g0208 | 2 | HG02647.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.304+15565A>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45167396 | ||||||
| chr13:45167396
|
AT | A | 7 | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0002g0027others(4): Show | 7 | HG00558.hp1 HG02615.hp2 HG03704.hp1 others(4): Show |
intron_variant | MODIFIER | c.304+15585delT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45167396 | |||||
| chr13:45167606
|
G | A | 2 | a0001c0001t0001g0207a0001c0001t0001g0208 | 2 | HG02647.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.304+15775G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45167606 | ||||||
| chr13:45167694
|
C | T | 1 | a0001c0001t0001g0039 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.304+15863C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45167694 | ||||||
| chr13:45167818
|
T | C | 40 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(37): Show | 40 | HG00639.hp2 HG01109.hp2 HG01243.hp1 others(37): Show |
intron_variant | MODIFIER | c.304+15987T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45167818 | ||||||
| chr13:45167940
|
A | G | 28 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(25): Show | 28 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(25): Show |
intron_variant | MODIFIER | c.304+16109A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45167940 | ||||||
| chr13:45168070
|
G | A | 6 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(3): Show | 6 | HG01496.hp1 HG02698.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.304+16239G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45168070 | ||||||
| chr13:45168102
|
A | C | 27 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(24): Show | 27 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(24): Show |
intron_variant | MODIFIER | c.304+16271A>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45168102 | ||||||
| chr13:45168124
|
A | C | 1 | a0001c0001t0001g0039 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.304+16293A>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45168124 | ||||||
| chr13:45168204
|
G | A | 1 | a0001c0001t0002g0001 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.304+16373G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45168204 | ||||||
| chr13:45168266
|
G | A | 105 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(102): Show | 105 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(102): Show |
intron_variant | MODIFIER | c.304+16435G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45168266 | ||||||
| chr13:45168394
|
G | A | 1 | a0001c0003t0001g0131 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.304+16563G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45168394 | ||||||
| chr13:45168405
|
C | T | 6 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(3): Show | 6 | HG01496.hp1 HG02698.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.304+16574C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45168405 | ||||||
| chr13:45168415
|
C | A | 6 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(3): Show | 6 | HG01496.hp1 HG02698.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.304+16584C>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45168415 | ||||||
| chr13:45168483
|
A | G | 1 | a0001c0001t0001g0073 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.304+16652A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45168483 | ||||||
| chr13:45168596
|
A | G | 1 | a0001c0002t0001g0120 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.304+16765A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45168596 | ||||||
| chr13:45168682
|
G | A | 55 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(52): Show | 55 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(52): Show |
intron_variant | MODIFIER | c.304+16851G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45168682 | ||||||
| chr13:45168779
|
G | GCTTC | 29 | a0001c0001t0001g0041a0001c0001t0001g0044a0001c0001t0001g0046others(26): Show | 29 | HG00423.hp1 HG00558.hp2 HG00609.hp2 others(26): Show |
intron_variant | MODIFIER | c.304+16994_304+1699 others(8): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45168779 | |||||
| chr13:45168779
|
G | GCTTCCTT others(1): Show |
11 | a0001c0001t0001g0043a0001c0001t0001g0048a0001c0001t0001g0087others(8): Show | 11 | HG00423.hp2 HG01099.hp2 HG02572.hp2 others(8): Show |
intron_variant | MODIFIER | c.304+16990_304+1699 others(12): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45168779 | |||||
| chr13:45168779
|
GCTTC | G | 35 | a0001c0001t0001g0019a0001c0001t0001g0059a0001c0001t0001g0061others(32): Show | 35 | HG00280.hp1 HG01106.hp1 HG01975.hp1 others(32): Show |
intron_variant | MODIFIER | c.304+16994_304+1699 others(8): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45168779 | |||||
| chr13:45168779
|
GCTTCCTT others(1): Show |
G | 13 | a0001c0001t0001g0011a0001c0001t0001g0018a0001c0001t0001g0023others(10): Show | 13 | HG01496.hp1 HG01934.hp1 HG02055.hp2 others(10): Show |
intron_variant | MODIFIER | c.304+16990_304+1699 others(12): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45168779 | |||||
| chr13:45168779
|
GCTTCCTT others(5): Show |
G | 36 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(33): Show | 36 | HG00639.hp2 HG01074.hp2 HG01109.hp2 others(33): Show |
intron_variant | MODIFIER | c.304+16986_304+1699 others(16): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45168779 | |||||
| chr13:45168888
|
C | T | 1 | a0001c0002t0001g0183 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.304+17057C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45168888 | ||||||
| chr13:45168892
|
C | T | 1 | a0001c0002t0001g0114 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.304+17061C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45168892 | ||||||
| chr13:45168903
|
CCCT | C | 35 | a0001c0001t0001g0008a0001c0001t0001g0016a0001c0001t0001g0017others(32): Show | 35 | HG00280.hp1 HG00558.hp2 HG01074.hp1 others(32): Show |
intron_variant | MODIFIER | c.304+17079_304+1708 others(7): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45168903 | |||||
| chr13:45168906
|
T | C | 1 | a0001c0002t0001g0176 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.304+17075T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45168906 | ||||||
| chr13:45168906
|
T | TC | 123 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(120): Show | 123 | HG00423.hp1 HG00423.hp2 HG00558.hp1 others(120): Show |
intron_variant | MODIFIER | c.304+17077dupC | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45168906 | |||||
| chr13:45168906
|
T | TCCCTC | 43 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0076others(40): Show | 43 | HG00280.hp2 HG00609.hp1 HG00639.hp1 others(40): Show |
intron_variant | MODIFIER | c.304+17077_304+1707 others(9): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45168906 | |||||
| chr13:45168906
|
T | TCCCTCCC others(6): Show |
1 | a0001c0001t0001g0096 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.304+17077_304+1707 others(17): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45168906 | |||||
| chr13:45168906
|
T | TCCTTCCT others(10): Show |
5 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(2): Show | 5 | HG02630.hp1 HG03098.hp2 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.304+17078_304+1707 others(21): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45168906 | |||||
| chr13:45168912
|
T | C | 1 | a0001c0002t0001g0182 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.304+17081T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45168912 | ||||||
| chr13:45169030
|
C | A | 65 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(62): Show | 65 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(62): Show |
intron_variant | MODIFIER | c.304+17199C>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45169030 | ||||||
| chr13:45169031
|
C | T | 105 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(102): Show | 105 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(102): Show |
intron_variant | MODIFIER | c.304+17200C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45169031 | ||||||
| chr13:45169097
|
C | T | 2 | a0001c0002t0001g0190a0001c0002t0001g0191 | 2 | HG01123.hp2 HG04199.hp1 |
intron_variant | MODIFIER | c.304+17266C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45169097 | ||||||
| chr13:45169135
|
G | A | 1 | a0001c0002t0001g0171 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.304+17304G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45169135 | ||||||
| chr13:45169422
|
C | T | 2 | a0001c0001t0001g0019a0001c0001t0001g0081 | 2 | HG01070.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.304+17591C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45169422 | ||||||
| chr13:45169603
|
C | A | 55 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(52): Show | 55 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(52): Show |
intron_variant | MODIFIER | c.304+17772C>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45169603 | ||||||
| chr13:45169690
|
T | G | 1 | a0001c0001t0002g0001 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.304+17859T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45169690 | ||||||
| chr13:45169709
|
C | T | 3 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0004g0074 | 3 | HG01975.hp1 HG02647.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.304+17878C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45169709 | ||||||
| chr13:45169717
|
T | C | 3 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0004g0074 | 3 | HG01975.hp1 HG02647.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.304+17886T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45169717 | ||||||
| chr13:45169998
|
T | G | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.304+18167T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45169998 | ||||||
| chr13:45170189
|
A | G | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.304+18358A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45170189 | ||||||
| chr13:45170300
|
C | G | 1 | a0001c0002t0001g0186 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.304+18469C>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45170300 | ||||||
| chr13:45170391
|
C | G | 1 | a0001c0002t0001g0199 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.304+18560C>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45170391 | ||||||
| chr13:45170563
|
G | A | 1 | a0001c0001t0001g0100 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.304+18732G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45170563 | ||||||
| chr13:45170706
|
T | C | 28 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(25): Show | 28 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(25): Show |
intron_variant | MODIFIER | c.304+18875T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45170706 | ||||||
| chr13:45170732
|
G | A | 1 | a0001c0002t0001g0162 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.304+18901G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45170732 | ||||||
| chr13:45170747
|
A | G | 1 | a0001c0001t0001g0072 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.304+18916A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45170747 | ||||||
| chr13:45170995
|
A | G | 6 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(3): Show | 6 | HG01496.hp1 HG02698.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.304+19164A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45170995 | ||||||
| chr13:45171015
|
C | T | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.304+19184C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45171015 | ||||||
| chr13:45171023
|
G | T | 55 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(52): Show | 55 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(52): Show |
intron_variant | MODIFIER | c.304+19192G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45171023 | ||||||
| chr13:45171035
|
A | G | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.304+19204A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45171035 | ||||||
| chr13:45171069
|
C | CT | 7 | a0001c0001t0001g0090a0001c0002t0001g0105a0001c0002t0001g0134others(4): Show | 7 | HG01071.hp1 HG01361.hp2 HG03654.hp2 others(4): Show |
intron_variant | MODIFIER | c.304+19264dupT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45171069 | |||||
| chr13:45171069
|
CT | C | 77 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0012others(74): Show | 77 | HG00558.hp1 HG00558.hp2 HG00639.hp2 others(74): Show |
intron_variant | MODIFIER | c.304+19264delT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45171069 | |||||
| chr13:45171069
|
CTT | C | 13 | a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0010others(10): Show | 13 | HG01934.hp1 HG01975.hp1 HG02055.hp2 others(10): Show |
intron_variant | MODIFIER | c.304+19263_304+1926 others(6): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45171069 | |||||
| chr13:45171217
|
A | G | 1 | a0001c0001t0001g0209 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.304+19386A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45171217 | ||||||
| chr13:45171554
|
T | C | 1 | a0001c0001t0001g0088 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.304+19723T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45171554 | ||||||
| chr13:45171866
|
C | CT | 29 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(26): Show | 29 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(26): Show |
intron_variant | MODIFIER | c.304+20050dupT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45171866 | |||||
| chr13:45171866
|
C | CTT | 6 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(3): Show | 6 | HG01496.hp1 HG02698.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.304+20049_304+2005 others(6): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45171866 | |||||
| chr13:45171987
|
A | G | 1 | a0001c0002t0003g0133 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.304+20156A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45171987 | ||||||
| chr13:45172203
|
C | T | 6 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0034others(3): Show | 6 | HG01109.hp2 HG01361.hp1 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.304+20372C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45172203 | ||||||
| chr13:45172314
|
T | C | 25 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(22): Show | 25 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(22): Show |
intron_variant | MODIFIER | c.304+20483T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45172314 | ||||||
| chr13:45172432
|
T | C | 1 | a0001c0001t0002g0032 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.304+20601T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45172432 | ||||||
| chr13:45172593
|
T | C | 1 | a0001c0002t0001g0121 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.304+20762T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45172593 | ||||||
| chr13:45172663
|
C | T | 5 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(2): Show | 5 | HG02630.hp1 HG03098.hp2 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.304+20832C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45172663 | ||||||
| chr13:45172671
|
C | G | 1 | a0001c0002t0001g0176 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.304+20840C>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45172671 | ||||||
| chr13:45172798
|
A | G | 11 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(8): Show | 11 | HG01496.hp1 HG02630.hp1 HG02698.hp2 others(8): Show |
intron_variant | MODIFIER | c.304+20967A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45172798 | ||||||
| chr13:45173153
|
G | T | 1 | a0001c0001t0001g0205 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.304+21322G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45173153 | ||||||
| chr13:45173366
|
TA | T | 23 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(20): Show | 23 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.304+21537delA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45173366 | |||||
| chr13:45173367
|
A | AC | 25 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(22): Show | 25 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(22): Show |
intron_variant | MODIFIER | c.304+21536_304+2153 others(5): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45173367 | ||||||
| chr13:45173367
|
A | ACTG | 2 | a0001c0001t0001g0207a0001c0001t0001g0208 | 2 | HG02647.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.304+21536_304+2153 others(7): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45173367 | ||||||
| chr13:45173367
|
A | G | 1 | a0001c0001t0005g0210 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.304+21536A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45173367 | ||||||
| chr13:45173368
|
A | T | 27 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(24): Show | 27 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(24): Show |
intron_variant | MODIFIER | c.304+21537A>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45173368 | ||||||
| chr13:45173369
|
C | CTG | 5 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(2): Show | 5 | HG02630.hp1 HG03098.hp2 HG03540.hp2 others(2): Show |
intron_variant | MODIFIER | c.304+21564_304+2156 others(6): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45173369 | |||||
| chr13:45173369
|
C | G | 27 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(24): Show | 27 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(24): Show |
intron_variant | MODIFIER | c.304+21538C>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45173369 | ||||||
| chr13:45173369
|
CTG | C | 3 | a0001c0001t0001g0075a0001c0001t0002g0028a0001c0002t0001g0183 | 3 | HG00423.hp1 HG02809.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.304+21564_304+2156 others(6): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45173369 | |||||
| chr13:45173591
|
CT | C | 3 | a0001c0001t0001g0008a0001c0001t0001g0016a0001c0001t0001g0017 | 3 | NA18954.hp1 NA18962.hp1 NA18982.hp2 |
intron_variant | MODIFIER | c.304+21761delT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45173591 | ||||||
| chr13:45173612
|
AT | A | 20 | a0001c0001t0001g0063a0001c0001t0001g0066a0001c0001t0001g0067others(17): Show | 20 | HG01099.hp1 HG01192.hp1 HG01496.hp1 others(17): Show |
intron_variant | MODIFIER | c.304+21804delT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45173612 | |||||
| chr13:45173612
|
ATT | A | 30 | a0001c0001t0001g0008a0001c0001t0001g0016a0001c0001t0001g0017others(27): Show | 30 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(27): Show |
intron_variant | MODIFIER | c.304+21803_304+2180 others(6): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45173612 | |||||
| chr13:45173612
|
ATTT | A | 62 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(59): Show | 62 | HG00280.hp2 HG00639.hp1 HG00639.hp2 others(59): Show |
intron_variant | MODIFIER | c.304+21802_304+2180 others(7): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45173612 | |||||
| chr13:45173703
|
C | T | 2 | a0001c0001t0001g0086a0001c0001t0001g0091 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.304+21872C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45173703 | ||||||
| chr13:45173829
|
G | C | 40 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(37): Show | 40 | HG00639.hp2 HG01109.hp2 HG01243.hp1 others(37): Show |
intron_variant | MODIFIER | c.304+21998G>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45173829 | ||||||
| chr13:45173918
|
A | G | 1 | a0001c0001t0001g0006 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.304+22087A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45173918 | ||||||
| chr13:45174172
|
A | G | 1 | a0001c0002t0001g0202 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.304+22341A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45174172 | ||||||
| chr13:45174177
|
T | A | 23 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(20): Show | 23 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.304+22346T>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45174177 | ||||||
| chr13:45174207
|
T | C | 1 | a0001c0002t0001g0125 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.304+22376T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45174207 | ||||||
| chr13:45174455
|
A | G | 8 | a0001c0002t0001g0106a0001c0002t0001g0121a0001c0002t0001g0124others(5): Show | 8 | HG00280.hp1 HG00423.hp2 HG01069.hp2 others(5): Show |
intron_variant | MODIFIER | c.304+22624A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45174455 | ||||||
| chr13:45174629
|
T | TTTTTC | 28 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(25): Show | 28 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(25): Show |
intron_variant | MODIFIER | c.304+22803_304+2280 others(9): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45174629 | |||||
| chr13:45174634
|
C | CT | 5 | a0001c0002t0001g0117a0001c0002t0001g0136a0001c0002t0001g0151others(2): Show | 5 | HG00423.hp1 HG00558.hp1 NA18968.hp1 others(2): Show |
intron_variant | MODIFIER | c.304+22824dupT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45174634 | |||||
| chr13:45174634
|
C | CTTTTCT | 9 | a0001c0001t0001g0066a0001c0001t0001g0068a0001c0001t0001g0069others(6): Show | 9 | HG01496.hp1 HG02630.hp1 HG02698.hp2 others(6): Show |
intron_variant | MODIFIER | c.304+22807_304+2280 others(10): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45174634 | |||||
| chr13:45174636
|
T | TTTC | 23 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(20): Show | 23 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(20): Show |
intron_variant | MODIFIER | c.304+22807_304+2280 others(7): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45174636 | |||||
| chr13:45174976
|
G | A | 1 | a0001c0001t0001g0205 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.304+23145G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45174976 | ||||||
| chr13:45175069
|
T | C | 5 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(2): Show | 5 | HG02630.hp1 HG03098.hp2 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.304+23238T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45175069 | ||||||
| chr13:45175434
|
C | T | 1 | a0001c0002t0001g0140 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.304+23603C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45175434 | ||||||
| chr13:45175446
|
A | G | 1 | a0001c0002t0001g0103 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.304+23615A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45175446 | ||||||
| chr13:45175587
|
C | T | 1 | a0001c0001t0005g0210 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.304+23756C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45175587 | ||||||
| chr13:45175658
|
T | G | 1 | a0001c0001t0001g0069 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.304+23827T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45175658 | ||||||
| chr13:45175771
|
C | T | 23 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(20): Show | 23 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.304+23940C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45175771 | ||||||
| chr13:45175940
|
C | T | 2 | a0001c0001t0001g0207a0001c0001t0001g0208 | 2 | HG02647.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.304+24109C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45175940 | ||||||
| chr13:45176181
|
T | C | 1 | a0001c0001t0002g0007 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.304+24350T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45176181 | ||||||
| chr13:45176542
|
G | A | 2 | a0001c0001t0001g0045a0001c0001t0001g0053 | 2 | HG03516.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.304+24711G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45176542 | ||||||
| chr13:45176821
|
C | T | 3 | a0001c0002t0001g0109a0001c0002t0001g0178a0001c0002t0001g0179 | 3 | HG01975.hp2 HG02083.hp2 HG02273.hp2 |
intron_variant | MODIFIER | c.304+24990C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45176821 | ||||||
| chr13:45176919
|
G | A | 3 | a0001c0001t0001g0008a0001c0001t0001g0017a0001c0001t0005g0210 | 3 | HG03453.hp2 NA18954.hp1 NA18982.hp2 |
intron_variant | MODIFIER | c.304+25088G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45176919 | ||||||
| chr13:45177082
|
G | A | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.304+25251G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45177082 | ||||||
| chr13:45177185
|
CT | C | 23 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(20): Show | 23 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.304+25359delT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45177185 | |||||
| chr13:45177335
|
A | G | 2 | a0001c0001t0001g0076a0001c0001t0001g0089 | 2 | HG02055.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.304+25504A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45177335 | ||||||
| chr13:45177620
|
A | G | 2 | a0001c0001t0002g0021a0001c0001t0002g0026 | 2 | HG02922.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.304+25789A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45177620 | ||||||
| chr13:45178000
|
G | A | 4 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(1): Show | 4 | HG02630.hp1 HG03098.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.304+26169G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45178000 | ||||||
| chr13:45178071
|
C | G | 40 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(37): Show | 40 | HG00639.hp2 HG01109.hp2 HG01243.hp1 others(37): Show |
intron_variant | MODIFIER | c.304+26240C>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45178071 | ||||||
| chr13:45178098
|
C | A | 23 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(20): Show | 23 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.304+26267C>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45178098 | ||||||
| chr13:45178178
|
A | G | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.304+26347A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45178178 | ||||||
| chr13:45178230
|
T | A | 23 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(20): Show | 23 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.304+26399T>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45178230 | ||||||
| chr13:45178340
|
G | GCTGCTT | 2 | a0001c0001t0001g0101a0001c0001t0001g0205 | 2 | HG02698.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.304+26511_304+2651 others(10): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45178340 | |||||
| chr13:45178340
|
G | GCTT | 2 | a0001c0001t0001g0207a0001c0001t0001g0208 | 2 | HG02647.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.304+26513_304+2651 others(7): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45178340 | |||||
| chr13:45178340
|
G | GCTTCTT | 101 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(98): Show | 101 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(98): Show |
intron_variant | MODIFIER | c.304+26510_304+2651 others(10): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45178340 | |||||
| chr13:45178425
|
C | CT | 7 | a0001c0001t0001g0010a0001c0001t0001g0033a0001c0001t0001g0066others(4): Show | 7 | HG02630.hp1 HG02965.hp2 HG03098.hp2 others(4): Show |
intron_variant | MODIFIER | c.304+26609dupT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45178425 | |||||
| chr13:45178425
|
CT | C | 12 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0072others(9): Show | 12 | HG01496.hp1 HG01975.hp1 HG02647.hp2 others(9): Show |
intron_variant | MODIFIER | c.304+26609delT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45178425 | |||||
| chr13:45178467
|
T | C | 5 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(2): Show | 5 | HG02630.hp1 HG03098.hp2 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.304+26636T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45178467 | ||||||
| chr13:45179097
|
G | C | 25 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(22): Show | 25 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(22): Show |
intron_variant | MODIFIER | c.304+27266G>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45179097 | ||||||
| chr13:45179148
|
T | C | 105 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(102): Show | 105 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(102): Show |
intron_variant | MODIFIER | c.304+27317T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45179148 | ||||||
| chr13:45179349
|
A | C | 1 | a0001c0002t0001g0103 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.304+27518A>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45179349 | ||||||
| chr13:45179408
|
T | G | 1 | a0001c0002t0001g0178 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.304+27577T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45179408 | ||||||
| chr13:45179478
|
G | A | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.304+27647G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45179478 | ||||||
| chr13:45179726
|
C | G | 1 | a0001c0002t0001g0107 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.305-27698C>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45179726 | ||||||
| chr13:45180138
|
A | G | 1 | a0001c0001t0001g0099 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.305-27286A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45180138 | ||||||
| chr13:45180333
|
G | A | 2 | a0001c0001t0001g0004a0001c0001t0001g0005 | 2 | HG02622.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.305-27091G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45180333 | ||||||
| chr13:45180428
|
AT | A | 4 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(1): Show | 4 | HG02630.hp1 HG03098.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.305-26989delT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45180428 | |||||
| chr13:45180437
|
C | A | 50 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(47): Show | 50 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.305-26987C>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45180437 | ||||||
| chr13:45180513
|
T | C | 23 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(20): Show | 23 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.305-26911T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45180513 | ||||||
| chr13:45180623
|
T | C | 5 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(2): Show | 5 | HG02630.hp1 HG03098.hp2 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.305-26801T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45180623 | ||||||
| chr13:45180959
|
C | T | 1 | a0001c0002t0001g0107 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.305-26465C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45180959 | ||||||
| chr13:45181004
|
A | G | 40 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(37): Show | 40 | HG00639.hp2 HG01109.hp2 HG01243.hp1 others(37): Show |
intron_variant | MODIFIER | c.305-26420A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45181004 | ||||||
| chr13:45181038
|
G | A | 40 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(37): Show | 40 | HG00639.hp2 HG01109.hp2 HG01243.hp1 others(37): Show |
intron_variant | MODIFIER | c.305-26386G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45181038 | ||||||
| chr13:45181071
|
G | A | 15 | a0001c0002t0001g0104a0001c0002t0001g0137a0001c0002t0001g0152others(12): Show | 15 | HG00609.hp1 HG00673.hp1 HG02074.hp2 others(12): Show |
intron_variant | MODIFIER | c.305-26353G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45181071 | ||||||
| chr13:45181130
|
A | G | 105 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(102): Show | 105 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(102): Show |
intron_variant | MODIFIER | c.305-26294A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45181130 | ||||||
| chr13:45181177
|
A | C | 3 | a0001c0001t0001g0008a0001c0001t0001g0016a0001c0001t0001g0017 | 3 | NA18954.hp1 NA18962.hp1 NA18982.hp2 |
intron_variant | MODIFIER | c.305-26247A>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45181177 | ||||||
| chr13:45181180
|
A | C | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.305-26244A>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45181180 | ||||||
| chr13:45181181
|
C | A | 60 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(57): Show | 60 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(57): Show |
intron_variant | MODIFIER | c.305-26243C>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45181181 | ||||||
| chr13:45181185
|
C | A | 50 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(47): Show | 50 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.305-26239C>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45181185 | ||||||
| chr13:45181185
|
C | CA | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.305-26236dupA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45181185 | |||||
| chr13:45181189
|
C | A | 53 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(50): Show | 53 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(50): Show |
intron_variant | MODIFIER | c.305-26235C>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45181189 | ||||||
| chr13:45181192
|
A | AC | 51 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(48): Show | 51 | HG00639.hp2 HG00738.hp2 HG01109.hp2 others(48): Show |
intron_variant | MODIFIER | c.305-26232_305-2623 others(5): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45181192 | ||||||
| chr13:45181200
|
A | AAAC | 8 | a0001c0001t0001g0049a0001c0001t0001g0076a0001c0001t0001g0078others(5): Show | 8 | HG01123.hp1 HG01175.hp2 HG02055.hp1 others(5): Show |
intron_variant | MODIFIER | c.305-26222_305-2622 others(7): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45181200 | |||||
| chr13:45181200
|
A | AAC | 41 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(38): Show | 41 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(38): Show |
intron_variant | MODIFIER | c.305-26223_305-2622 others(6): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45181200 | |||||
| chr13:45181204
|
C | A | 27 | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0012others(24): Show | 27 | HG00639.hp2 HG01243.hp1 HG01891.hp2 others(24): Show |
intron_variant | MODIFIER | c.305-26220C>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45181204 | ||||||
| chr13:45181265
|
C | G | 23 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(20): Show | 23 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.305-26159C>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45181265 | ||||||
| chr13:45181304
|
G | A | 1 | a0001c0002t0001g0002 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.305-26120G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45181304 | ||||||
| chr13:45181581
|
A | G | 1 | a0001c0002t0001g0152 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.305-25843A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45181581 | ||||||
| chr13:45181894
|
G | A | 2 | a0001c0001t0001g0004a0001c0001t0001g0005 | 2 | HG02622.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.305-25530G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45181894 | ||||||
| chr13:45182244
|
G | A | 1 | a0001c0001t0001g0099 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.305-25180G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45182244 | ||||||
| chr13:45182348
|
C | T | 1 | a0001c0001t0001g0071 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.305-25076C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45182348 | ||||||
| chr13:45182587
|
A | G | 23 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(20): Show | 23 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.305-24837A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45182587 | ||||||
| chr13:45182830
|
C | T | 2 | a0001c0001t0001g0011a0001c0001t0001g0018 | 2 | HG03491.hp1 HG03688.hp1 |
intron_variant | MODIFIER | c.305-24594C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45182830 | ||||||
| chr13:45183260
|
C | T | 2 | a0001c0001t0001g0207a0001c0001t0001g0208 | 2 | HG02647.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.305-24164C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45183260 | ||||||
| chr13:45183404
|
G | A | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.305-24020G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45183404 | ||||||
| chr13:45183760
|
T | C | 105 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(102): Show | 105 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(102): Show |
intron_variant | MODIFIER | c.305-23664T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45183760 | ||||||
| chr13:45183899
|
A | C | 2 | a0001c0001t0001g0004a0001c0001t0001g0005 | 2 | HG02622.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.305-23525A>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45183899 | ||||||
| chr13:45184147
|
T | C | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.305-23277T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45184147 | ||||||
| chr13:45184189
|
T | C | 3 | a0001c0002t0001g0134a0001c0002t0001g0135a0001c0002t0001g0180 | 3 | NA18906.hp1 NA20129.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.305-23235T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45184189 | ||||||
| chr13:45184330
|
C | T | 1 | a0001c0001t0004g0074 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.305-23094C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45184330 | ||||||
| chr13:45184353
|
G | A | 28 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(25): Show | 28 | HG01109.hp2 HG01361.hp1 HG01934.hp1 others(25): Show |
intron_variant | MODIFIER | c.305-23071G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45184353 | ||||||
| chr13:45184391
|
C | G | 1 | a0001c0002t0001g0002 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.305-23033C>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45184391 | ||||||
| chr13:45184393
|
CG | C | 10 | a0001c0001t0001g0011a0001c0001t0001g0018a0001c0001t0001g0019others(7): Show | 10 | HG01496.hp1 HG01934.hp1 HG02622.hp1 others(7): Show |
intron_variant | MODIFIER | c.305-23030delG | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45184393 | ||||||
| chr13:45184394
|
G | C | 121 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(118): Show | 121 | HG00280.hp2 HG00558.hp2 HG00609.hp1 others(118): Show |
intron_variant | MODIFIER | c.305-23030G>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45184394 | ||||||
| chr13:45184395
|
C | T | 50 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(47): Show | 50 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.305-23029C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45184395 | ||||||
| chr13:45184524
|
G | C | 1 | a0001c0002t0001g0167 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.305-22900G>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45184524 | ||||||
| chr13:45184532
|
T | C | 1 | a0001c0001t0002g0032 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.305-22892T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45184532 | ||||||
| chr13:45184553
|
T | A | 1 | a0001c0002t0001g0128 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.305-22871T>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45184553 | ||||||
| chr13:45184730
|
G | C | 1 | a0001c0001t0001g0030 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.305-22694G>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45184730 | ||||||
| chr13:45184971
|
C | A | 1 | a0001c0002t0001g0111 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.305-22453C>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45184971 | ||||||
| chr13:45185120
|
C | T | 1 | a0001c0002t0001g0177 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.305-22304C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45185120 | ||||||
| chr13:45185285
|
A | C | 27 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(24): Show | 27 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(24): Show |
intron_variant | MODIFIER | c.305-22139A>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45185285 | ||||||
| chr13:45185359
|
A | G | 1 | a0001c0002t0001g0170 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.305-22065A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45185359 | ||||||
| chr13:45185458
|
C | T | 2 | a0001c0002t0001g0173a0001c0002t0001g0174 | 2 | HG02257.hp2 HG02630.hp2 |
intron_variant | MODIFIER | c.305-21966C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45185458 | ||||||
| chr13:45185672
|
G | A | 50 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(47): Show | 50 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.305-21752G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45185672 | ||||||
| chr13:45185674
|
A | G | 20 | a0001c0002t0001g0106a0001c0002t0001g0107a0001c0002t0001g0113others(17): Show | 20 | HG00280.hp1 HG00423.hp1 HG00423.hp2 others(17): Show |
intron_variant | MODIFIER | c.305-21750A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45185674 | ||||||
| chr13:45185693
|
A | G | 6 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(3): Show | 6 | HG01496.hp1 HG02698.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.305-21731A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45185693 | ||||||
| chr13:45185786
|
T | C | 25 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(22): Show | 25 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(22): Show |
intron_variant | MODIFIER | c.305-21638T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45185786 | ||||||
| chr13:45186060
|
T | C | 152 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(149): Show | 152 | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(149): Show |
intron_variant | MODIFIER | c.305-21364T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45186060 | ||||||
| chr13:45186100
|
G | A | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.305-21324G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45186100 | ||||||
| chr13:45186123
|
C | T | 5 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(2): Show | 5 | HG02630.hp1 HG03098.hp2 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.305-21301C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45186123 | ||||||
| chr13:45186181
|
C | G | 50 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(47): Show | 50 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.305-21243C>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45186181 | ||||||
| chr13:45186254
|
C | T | 1 | a0001c0002t0001g0111 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.305-21170C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45186254 | ||||||
| chr13:45186274
|
C | CT | 2 | a0001c0001t0001g0207a0001c0001t0001g0208 | 2 | HG02647.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.305-21149dupT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45186274 | |||||
| chr13:45186276
|
A | AT | 99 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(96): Show | 99 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(96): Show |
intron_variant | MODIFIER | c.305-21133dupT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45186276 | |||||
| chr13:45186276
|
A | T | 2 | a0001c0001t0001g0207a0001c0001t0001g0208 | 2 | HG02647.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.305-21148A>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45186276 | ||||||
| chr13:45186336
|
A | G | 209 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(206): Show | 209 | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(206): Show |
intron_variant | MODIFIER | c.305-21088A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45186336 | ||||||
| chr13:45186406
|
C | T | 1 | a0001c0002t0001g0177 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.305-21018C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45186406 | ||||||
| chr13:45186599
|
G | A | 1 | a0001c0001t0005g0210 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.305-20825G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45186599 | ||||||
| chr13:45186615
|
G | C | 3 | a0001c0001t0001g0008a0001c0001t0001g0016a0001c0001t0001g0017 | 3 | NA18954.hp1 NA18962.hp1 NA18982.hp2 |
intron_variant | MODIFIER | c.305-20809G>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45186615 | ||||||
| chr13:45186759
|
TA | T | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.305-20660delA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45186759 | |||||
| chr13:45186983
|
G | A | 40 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(37): Show | 40 | HG00639.hp2 HG01109.hp2 HG01243.hp1 others(37): Show |
intron_variant | MODIFIER | c.305-20441G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45186983 | ||||||
| chr13:45186984
|
C | T | 40 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(37): Show | 40 | HG00639.hp2 HG01109.hp2 HG01243.hp1 others(37): Show |
intron_variant | MODIFIER | c.305-20440C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45186984 | ||||||
| chr13:45187270
|
G | A | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.305-20154G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45187270 | ||||||
| chr13:45187591
|
T | G | 1 | a0001c0002t0001g0108 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.305-19833T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45187591 | ||||||
| chr13:45188138
|
T | A | 1 | a0001c0002t0001g0142 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.305-19286T>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45188138 | ||||||
| chr13:45188487
|
C | G | 2 | a0001c0002t0001g0173a0001c0002t0001g0174 | 2 | HG02257.hp2 HG02630.hp2 |
intron_variant | MODIFIER | c.305-18937C>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45188487 | ||||||
| chr13:45189030
|
TCTC | T | 2 | a0001c0001t0001g0207a0001c0001t0001g0208 | 2 | HG02647.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.305-18391_305-1838 others(7): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45189030 | |||||
| chr13:45189239
|
T | C | 2 | a0001c0001t0001g0207a0001c0001t0001g0208 | 2 | HG02647.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.305-18185T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45189239 | ||||||
| chr13:45189646
|
GAGGACAT others(45): Show |
G | 1 | a0001c0001t0001g0082 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.305-17754_305-1770 others(56): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45189646 | |||||
| chr13:45189885
|
T | C | 131 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(128): Show | 131 | HG00280.hp2 HG00558.hp2 HG00609.hp1 others(128): Show |
intron_variant | MODIFIER | c.305-17539T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45189885 | ||||||
| chr13:45190024
|
C | T | 23 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(20): Show | 23 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.305-17400C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45190024 | ||||||
| chr13:45190164
|
C | A | 50 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(47): Show | 50 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.305-17260C>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45190164 | ||||||
| chr13:45190472
|
C | G | 1 | a0001c0001t0005g0210 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.305-16952C>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45190472 | ||||||
| chr13:45190617
|
A | T | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.305-16807A>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45190617 | ||||||
| chr13:45190657
|
G | A | 2 | a0001c0001t0001g0006a0001c0001t0001g0040 | 2 | HG02723.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.305-16767G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45190657 | ||||||
| chr13:45190761
|
G | C | 1 | a0001c0002t0001g0140 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.305-16663G>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45190761 | ||||||
| chr13:45190905
|
C | T | 3 | a0001c0002t0001g0130a0001c0002t0001g0148a0001c0002t0001g0188 | 3 | HG01099.hp1 HG01192.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.305-16519C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45190905 | ||||||
| chr13:45190940
|
TA | T | 54 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(51): Show | 54 | HG00639.hp2 HG01070.hp2 HG01109.hp2 others(51): Show |
intron_variant | MODIFIER | c.305-16468delA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45190940 | |||||
| chr13:45191072
|
A | G | 11 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(8): Show | 11 | HG01496.hp1 HG02630.hp1 HG02698.hp2 others(8): Show |
intron_variant | MODIFIER | c.305-16352A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45191072 | ||||||
| chr13:45191135
|
G | A | 27 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(24): Show | 27 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(24): Show |
intron_variant | MODIFIER | c.305-16289G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45191135 | ||||||
| chr13:45191153
|
C | T | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.305-16271C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45191153 | ||||||
| chr13:45191215
|
C | A | 1 | a0001c0001t0001g0101 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.305-16209C>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45191215 | ||||||
| chr13:45191215
|
C | CAA | 12 | a0001c0002t0001g0106a0001c0002t0001g0107a0001c0002t0001g0183others(9): Show | 12 | HG00423.hp1 HG00423.hp2 HG00738.hp2 others(9): Show |
intron_variant | MODIFIER | c.305-16200_305-1619 others(6): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191215 | |||||
| chr13:45191215
|
C | CAAAA | 12 | a0001c0001t0001g0010a0001c0001t0001g0013a0001c0001t0001g0014others(9): Show | 12 | HG00280.hp2 HG00639.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.305-16202_305-1619 others(8): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191215 | |||||
| chr13:45191215
|
C | CAAAAAAA others(4): Show |
1 | a0001c0001t0005g0210 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.305-16199_305-1619 others(15): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191215 | |||||
| chr13:45191220
|
A | AATAT | 5 | a0001c0002t0001g0003a0001c0002t0001g0162a0001c0002t0001g0163others(2): Show | 5 | HG02083.hp1 NA18945.hp1 NA18971.hp1 others(2): Show |
intron_variant | MODIFIER | c.305-16203_305-1620 others(8): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191220 | |||||
| chr13:45191220
|
A | AATATAT | 7 | a0001c0002t0001g0137a0001c0002t0001g0153a0001c0002t0001g0154others(4): Show | 7 | HG00609.hp1 HG02630.hp2 NA18962.hp2 others(4): Show |
intron_variant | MODIFIER | c.305-16203_305-1620 others(10): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191220 | |||||
| chr13:45191220
|
A | AATATATA others(1): Show |
4 | a0001c0002t0001g0152a0001c0002t0001g0160a0001c0002t0001g0164others(1): Show | 4 | HG02015.hp1 HG02257.hp2 NA18970.hp1 others(1): Show |
intron_variant | MODIFIER | c.305-16203_305-1620 others(12): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191220 | |||||
| chr13:45191220
|
A | AATATATA others(3): Show |
6 | a0001c0002t0001g0134a0001c0002t0001g0156a0001c0002t0001g0157others(3): Show | 6 | HG00673.hp1 HG02074.hp2 NA18957.hp1 others(3): Show |
intron_variant | MODIFIER | c.305-16203_305-1620 others(14): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191220 | |||||
| chr13:45191220
|
A | AATATATA others(5): Show |
1 | a0001c0002t0001g0180 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.305-16203_305-1620 others(16): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191220 | |||||
| chr13:45191220
|
A | AATATATA others(7): Show |
3 | a0001c0002t0001g0104a0001c0002t0001g0135a0001c0002t0001g0170 | 3 | HG02717.hp2 NA18948.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.305-16203_305-1620 others(18): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191220 | |||||
| chr13:45191220
|
AAAAAATA others(7): Show |
A | 1 | a0001c0002t0001g0171 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.305-16202_305-1618 others(18): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191220 | |||||
| chr13:45191222
|
A | AAT | 4 | a0001c0002t0001g0114a0001c0002t0001g0117a0001c0002t0001g0190others(1): Show | 4 | HG01123.hp2 HG04199.hp1 HG04199.hp2 others(1): Show |
intron_variant | MODIFIER | c.305-16201_305-1620 others(6): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191222 | |||||
| chr13:45191222
|
A | AATATATA others(3): Show |
1 | a0001c0001t0002g0020 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.305-16201_305-1620 others(14): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191222 | |||||
| chr13:45191222
|
A | AATATATA others(5): Show |
1 | a0001c0001t0002g0031 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.305-16201_305-1620 others(16): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191222 | |||||
| chr13:45191222
|
A | AATATATA others(7): Show |
2 | a0001c0001t0002g0007a0001c0001t0002g0029 | 2 | HG02055.hp2 HG02280.hp2 |
intron_variant | MODIFIER | c.305-16201_305-1620 others(18): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191222 | |||||
| chr13:45191222
|
A | AATATATA others(9): Show |
2 | a0001c0001t0002g0027a0001c0001t0002g0028 | 2 | HG02809.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.305-16201_305-1620 others(20): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191222 | |||||
| chr13:45191222
|
A | AATATATA others(15): Show |
1 | a0001c0001t0002g0021 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.305-16201_305-1620 others(26): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191222 | |||||
| chr13:45191222
|
A | AATATATA others(31): Show |
1 | a0001c0001t0002g0026 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.305-16201_305-1620 others(42): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191222 | |||||
| chr13:45191222
|
A | T | 30 | a0001c0002t0001g0002a0001c0002t0001g0003a0001c0002t0001g0104others(27): Show | 30 | HG00609.hp1 HG00673.hp1 HG01934.hp2 others(27): Show |
intron_variant | MODIFIER | c.305-16202A>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45191222 | ||||||
| chr13:45191224
|
A | AAAAAAAA others(7): Show |
1 | a0001c0001t0001g0047 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.305-16199_305-1619 others(18): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AAAAAAAA others(23): Show |
2 | a0001c0001t0001g0067a0001c0001t0001g0069 | 2 | HG03098.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.305-16199_305-1619 others(34): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AAAAAAAA others(25): Show |
1 | a0001c0001t0001g0068 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.305-16199_305-1619 others(36): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AAAAAAAA others(29): Show |
1 | a0001c0001t0001g0066 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.305-16199_305-1619 others(40): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AAAAAAAA others(7): Show |
2 | a0001c0001t0001g0046a0001c0001t0001g0057 | 2 | HG02451.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.305-16199_305-1619 others(18): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AAAAAAAA others(9): Show |
3 | a0001c0001t0001g0078a0001c0001t0001g0079a0001c0001t0001g0080 | 3 | HG03516.hp2 HG03579.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.305-16199_305-1619 others(20): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AAAAAAAA others(11): Show |
4 | a0001c0001t0001g0076a0001c0001t0001g0087a0001c0001t0001g0089others(1): Show | 4 | HG01099.hp2 HG01175.hp2 HG02055.hp1 others(1): Show |
intron_variant | MODIFIER | c.305-16199_305-1619 others(22): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AAAAAAAA others(15): Show |
1 | a0001c0001t0001g0102 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.305-16199_305-1619 others(26): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AAAAAAAA others(6): Show |
7 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0049others(4): Show | 7 | HG01074.hp1 HG02257.hp1 HG02258.hp1 others(4): Show |
intron_variant | MODIFIER | c.305-16199_305-1619 others(17): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AAAAAAAA others(8): Show |
2 | a0001c0001t0001g0044a0001c0001t0001g0060 | 2 | HG00558.hp2 HG01192.hp2 |
intron_variant | MODIFIER | c.305-16199_305-1619 others(19): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AAAAAAAA others(14): Show |
1 | a0001c0001t0001g0073 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.305-16199_305-1619 others(25): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AAAAAAAA others(18): Show |
1 | a0001c0001t0001g0070 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.305-16199_305-1619 others(29): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AAAAAAAA others(20): Show |
2 | a0001c0001t0001g0099a0001c0001t0001g0100 | 2 | HG01496.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.305-16199_305-1619 others(31): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AAAAAAAA others(26): Show |
1 | a0001c0001t0001g0071 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.305-16199_305-1619 others(37): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AAAAAAAA others(30): Show |
1 | a0001c0001t0001g0205 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.305-16199_305-1619 others(41): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AAAAAAAA others(5): Show |
1 | a0001c0001t0001g0208 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.305-16199_305-1619 others(16): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AAAAAAAA others(11): Show |
2 | a0001c0001t0001g0043a0001c0001t0001g0084 | 2 | HG02922.hp1 HG03490.hp1 |
intron_variant | MODIFIER | c.305-16199_305-1619 others(22): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AAAAAAAA others(13): Show |
1 | a0001c0001t0001g0207 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.305-16199_305-1619 others(24): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AAAAAAAA others(15): Show |
2 | a0001c0001t0001g0090a0001c0001t0001g0097 | 2 | HG01069.hp1 HG01071.hp1 |
intron_variant | MODIFIER | c.305-16199_305-1619 others(26): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AAAAAAAA others(17): Show |
2 | a0001c0001t0001g0209a0001c0001t0004g0074 | 2 | HG00738.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.305-16199_305-1619 others(28): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AAAAAAAA others(25): Show |
1 | a0001c0001t0001g0092 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.305-16199_305-1619 others(36): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AAAAAAAT others(8): Show |
5 | a0001c0001t0001g0052a0001c0001t0001g0056a0001c0001t0001g0058others(2): Show | 5 | HG02895.hp2 HG02897.hp2 NA18945.hp2 others(2): Show |
intron_variant | MODIFIER | c.305-16199_305-1619 others(19): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AAAAAAAT others(10): Show |
4 | a0001c0001t0001g0059a0001c0001t0001g0062a0001c0001t0001g0063others(1): Show | 4 | HG03139.hp2 NA18977.hp2 NA18980.hp2 others(1): Show |
intron_variant | MODIFIER | c.305-16199_305-1619 others(21): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AAAAAAAT others(14): Show |
1 | a0001c0001t0001g0064 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.305-16199_305-1619 others(25): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AAAAAAAT others(16): Show |
1 | a0001c0001t0001g0048 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.305-16199_305-1619 others(27): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AAAAAATA others(3): Show |
1 | a0001c0001t0001g0030 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.305-16199_305-1619 others(14): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AAAAAATA others(9): Show |
1 | a0001c0001t0001g0091 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.305-16199_305-1619 others(20): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AAAAAATA others(11): Show |
1 | a0001c0001t0001g0086 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.305-16199_305-1619 others(22): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AAAAAATA others(19): Show |
1 | a0001c0001t0001g0072 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.305-16199_305-1619 others(30): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AAAAAATA others(21): Show |
1 | a0001c0001t0001g0034 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.305-16199_305-1619 others(32): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AAAAAATA others(25): Show |
1 | a0001c0001t0001g0019 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.305-16199_305-1619 others(36): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AAAAATAT others(10): Show |
2 | a0001c0001t0001g0040a0001c0001t0001g0075 | 2 | HG02809.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.305-16199_305-1619 others(21): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AAAATATA others(13): Show |
1 | a0001c0001t0001g0006 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.305-16199_305-1619 others(24): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AAAATATA others(15): Show |
1 | a0001c0001t0001g0085 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.305-16199_305-1619 others(26): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AAAATATA others(21): Show |
1 | a0001c0001t0001g0035 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.305-16199_305-1619 others(32): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AAAATATA others(31): Show |
1 | a0001c0001t0001g0088 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.305-16199_305-1619 others(42): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AAATATAT others(10): Show |
1 | a0001c0001t0001g0053 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.305-16199_305-1619 others(21): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AAATATAT others(14): Show |
1 | a0001c0001t0001g0038 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.305-16199_305-1619 others(25): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AAATATAT others(18): Show |
1 | a0001c0001t0001g0045 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.305-16199_305-1619 others(29): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AAATATAT others(22): Show |
1 | a0001c0001t0001g0036 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.305-16199_305-1619 others(33): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AAT | 10 | a0001c0002t0001g0124a0001c0002t0001g0125a0001c0002t0001g0126others(7): Show | 10 | HG01074.hp2 HG01106.hp2 HG01243.hp2 others(7): Show |
intron_variant | MODIFIER | c.305-16170_305-1616 others(6): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AATATATA others(3): Show |
2 | a0001c0001t0001g0017a0001c0001t0002g0022 | 2 | HG03486.hp2 NA18982.hp2 |
intron_variant | MODIFIER | c.305-16178_305-1616 others(14): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AATATATA others(9): Show |
1 | a0001c0001t0001g0016 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.305-16184_305-1616 others(20): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AATATATA others(15): Show |
1 | a0001c0001t0001g0005 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.305-16190_305-1616 others(26): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AATATATA others(17): Show |
1 | a0001c0001t0001g0004 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.305-16192_305-1616 others(28): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | AATATATA others(23): Show |
1 | a0001c0001t0002g0001 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.305-16198_305-1616 others(34): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191224
|
A | ATATATAT others(4): Show |
1 | a0001c0002t0001g0169 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.305-16200_305-1619 others(15): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45191224 | ||||||
| chr13:45191224
|
A | T | 52 | a0001c0001t0002g0007a0001c0001t0002g0020a0001c0001t0002g0021others(49): Show | 52 | HG00609.hp1 HG00673.hp1 HG01099.hp1 others(49): Show |
intron_variant | MODIFIER | c.305-16200A>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45191224 | ||||||
| chr13:45191224
|
AAT | A | 4 | a0001c0001t0001g0012a0001c0001t0001g0077a0001c0001t0001g0093others(1): Show | 4 | HG01891.hp1 HG02109.hp2 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.305-16170_305-1616 others(6): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45191224 | |||||
| chr13:45191226
|
T | A | 10 | a0001c0001t0001g0010a0001c0001t0001g0083a0001c0001t0001g0095others(7): Show | 10 | HG00280.hp2 HG01069.hp2 HG02015.hp2 others(7): Show |
intron_variant | MODIFIER | c.305-16198T>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45191226 | ||||||
| chr13:45191228
|
T | A | 4 | a0001c0001t0001g0012a0001c0001t0001g0077a0001c0001t0001g0093others(1): Show | 4 | HG01891.hp1 HG02109.hp2 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.305-16196T>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45191228 | ||||||
| chr13:45191230
|
T | A | 5 | a0001c0001t0001g0012a0001c0001t0001g0077a0001c0001t0001g0093others(2): Show | 5 | HG01891.hp1 HG02109.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.305-16194T>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45191230 | ||||||
| chr13:45191232
|
T | A | 4 | a0001c0001t0001g0012a0001c0001t0001g0077a0001c0001t0001g0093others(1): Show | 4 | HG01891.hp1 HG02109.hp2 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.305-16192T>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45191232 | ||||||
| chr13:45191255
|
A | ATATATAT others(25): Show |
1 | a0001c0001t0001g0023 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.305-16169_305-1616 others(36): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45191255 | ||||||
| chr13:45191255
|
A | ATATATAT others(5): Show |
2 | a0001c0001t0001g0011a0001c0001t0001g0018 | 2 | HG03491.hp1 HG03688.hp1 |
intron_variant | MODIFIER | c.305-16169_305-1616 others(16): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45191255 | ||||||
| chr13:45191367
|
A | G | 3 | a0001c0002t0001g0170a0001c0002t0001g0173a0001c0002t0001g0174 | 3 | HG02257.hp2 HG02630.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.305-16057A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45191367 | ||||||
| chr13:45191595
|
G | A | 1 | a0001c0001t0002g0009 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.305-15829G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45191595 | ||||||
| chr13:45191912
|
T | G | 23 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(20): Show | 23 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.305-15512T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45191912 | ||||||
| chr13:45191977
|
G | A | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.305-15447G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45191977 | ||||||
| chr13:45192100
|
A | G | 2 | a0001c0001t0001g0004a0001c0001t0001g0005 | 2 | HG02622.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.305-15324A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45192100 | ||||||
| chr13:45192300
|
A | C | 1 | a0001c0001t0001g0049 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.305-15124A>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45192300 | ||||||
| chr13:45192536
|
T | A | 23 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(20): Show | 23 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.305-14888T>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45192536 | ||||||
| chr13:45192926
|
A | G | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.305-14498A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45192926 | ||||||
| chr13:45193622
|
A | G | 1 | a0001c0002t0001g0111 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.305-13802A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45193622 | ||||||
| chr13:45194575
|
A | G | 3 | a0001c0001t0001g0025a0001c0001t0001g0030a0001c0001t0001g0037 | 3 | HG00639.hp2 HG01243.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.305-12849A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45194575 | ||||||
| chr13:45194624
|
G | A | 50 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(47): Show | 50 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.305-12800G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45194624 | ||||||
| chr13:45194642
|
C | T | 1 | a0001c0002t0001g0206 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.305-12782C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45194642 | ||||||
| chr13:45194939
|
C | G | 1 | a0001c0001t0001g0024 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.305-12485C>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45194939 | ||||||
| chr13:45195528
|
CTTGT | C | 40 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(37): Show | 40 | HG00639.hp2 HG01109.hp2 HG01243.hp1 others(37): Show |
intron_variant | MODIFIER | c.305-11877_305-1187 others(8): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45195528 | |||||
| chr13:45195573
|
C | T | 2 | a0001c0001t0001g0207a0001c0001t0001g0208 | 2 | HG02647.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.305-11851C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45195573 | ||||||
| chr13:45195832
|
T | C | 25 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(22): Show | 25 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(22): Show |
intron_variant | MODIFIER | c.305-11592T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45195832 | ||||||
| chr13:45196313
|
C | T | 2 | a0001c0001t0001g0010a0001c0001t0001g0033 | 2 | HG02965.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.305-11111C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45196313 | ||||||
| chr13:45196535
|
G | A | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.305-10889G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45196535 | ||||||
| chr13:45196961
|
G | A | 1 | a0001c0002t0001g0111 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.305-10463G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45196961 | ||||||
| chr13:45197272
|
A | G | 50 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(47): Show | 50 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.305-10152A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45197272 | ||||||
| chr13:45197341
|
T | TA | 36 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(33): Show | 36 | HG00639.hp2 HG01109.hp2 HG01243.hp1 others(33): Show |
intron_variant | MODIFIER | c.305-10066dupA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45197341 | |||||
| chr13:45197341
|
TA | T | 33 | a0001c0001t0001g0060a0001c0001t0001g0076a0001c0001t0001g0077others(30): Show | 33 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(30): Show |
intron_variant | MODIFIER | c.305-10066delA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45197341 | |||||
| chr13:45197509
|
C | CA | 46 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(43): Show | 46 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(43): Show |
intron_variant | MODIFIER | c.305-9898dupA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45197509 | |||||
| chr13:45197509
|
C | CAA | 6 | a0001c0001t0001g0047a0001c0001t0001g0050a0001c0001t0001g0051others(3): Show | 6 | HG00738.hp1 HG01074.hp1 HG01109.hp1 others(3): Show |
intron_variant | MODIFIER | c.305-9899_305-9898d others(4): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45197509 | |||||
| chr13:45197719
|
C | T | 1 | a0001c0001t0001g0008 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.305-9705C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45197719 | ||||||
| chr13:45197854
|
C | T | 1 | a0001c0001t0001g0064 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.305-9570C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45197854 | ||||||
| chr13:45197876
|
A | G | 105 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(102): Show | 105 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(102): Show |
intron_variant | MODIFIER | c.305-9548A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45197876 | ||||||
| chr13:45197989
|
A | T | 50 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(47): Show | 50 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.305-9435A>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45197989 | ||||||
| chr13:45198035
|
T | G | 2 | a0001c0001t0001g0207a0001c0001t0001g0208 | 2 | HG02647.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.305-9389T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45198035 | ||||||
| chr13:45198394
|
G | A | 23 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(20): Show | 23 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.305-9030G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45198394 | ||||||
| chr13:45198766
|
C | CT | 5 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(2): Show | 5 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.305-8649dupT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45198766 | |||||
| chr13:45198906
|
A | G | 14 | a0001c0002t0001g0104a0001c0002t0001g0137a0001c0002t0001g0152others(11): Show | 14 | HG00609.hp1 HG00673.hp1 HG02074.hp2 others(11): Show |
intron_variant | MODIFIER | c.305-8518A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45198906 | ||||||
| chr13:45198989
|
A | T | 50 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(47): Show | 50 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.305-8435A>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45198989 | ||||||
| chr13:45199238
|
T | G | 1 | a0001c0001t0001g0092 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.305-8186T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45199238 | ||||||
| chr13:45199509
|
TA | T | 50 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(47): Show | 50 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.305-7910delA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45199509 | |||||
| chr13:45199520
|
T | G | 15 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(12): Show | 15 | HG01074.hp1 HG01109.hp1 HG01192.hp2 others(12): Show |
intron_variant | MODIFIER | c.305-7904T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45199520 | ||||||
| chr13:45199895
|
A | G | 105 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(102): Show | 105 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(102): Show |
intron_variant | MODIFIER | c.305-7529A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45199895 | ||||||
| chr13:45200422
|
GGAA | G | 50 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(47): Show | 50 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.305-7001_305-6999d others(5): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45200422 | ||||||
| chr13:45200426
|
A | C | 50 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(47): Show | 50 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.305-6998A>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45200426 | ||||||
| chr13:45200984
|
C | T | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.305-6440C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45200984 | ||||||
| chr13:45201202
|
C | T | 4 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(1): Show | 4 | HG02630.hp1 HG03098.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.305-6222C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45201202 | ||||||
| chr13:45201389
|
C | G | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.305-6035C>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45201389 | ||||||
| chr13:45201571
|
G | A | 6 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0034others(3): Show | 6 | HG01109.hp2 HG01361.hp1 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.305-5853G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45201571 | ||||||
| chr13:45201777
|
T | C | 2 | a0001c0001t0001g0207a0001c0001t0001g0208 | 2 | HG02647.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.305-5647T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45201777 | ||||||
| chr13:45201946
|
T | C | 5 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(2): Show | 5 | HG02630.hp1 HG03098.hp2 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.305-5478T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45201946 | ||||||
| chr13:45201968
|
C | T | 3 | a0001c0001t0001g0025a0001c0001t0001g0030a0001c0001t0001g0037 | 3 | HG00639.hp2 HG01243.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.305-5456C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45201968 | ||||||
| chr13:45201969
|
G | A | 27 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(24): Show | 27 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(24): Show |
intron_variant | MODIFIER | c.305-5455G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45201969 | ||||||
| chr13:45201980
|
GAC | G | 6 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(3): Show | 6 | HG01496.hp1 HG02698.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.305-5438_305-5437d others(4): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45201980 | |||||
| chr13:45202012
|
A | G | 105 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(102): Show | 105 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(102): Show |
intron_variant | MODIFIER | c.305-5412A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45202012 | ||||||
| chr13:45202026
|
C | T | 1 | a0001c0002t0001g0124 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.305-5398C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45202026 | ||||||
| chr13:45202099
|
C | CT | 11 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(8): Show | 11 | HG01496.hp1 HG02630.hp1 HG02698.hp2 others(8): Show |
intron_variant | MODIFIER | c.305-5323dupT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45202099 | |||||
| chr13:45202248
|
G | T | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.305-5176G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45202248 | ||||||
| chr13:45202342
|
G | A | 1 | a0001c0001t0001g0081 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.305-5082G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45202342 | ||||||
| chr13:45202395
|
A | G | 2 | a0001c0002t0001g0114a0001c0002t0001g0190 | 2 | HG01123.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.305-5029A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45202395 | ||||||
| chr13:45202440
|
G | GGT | 26 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(23): Show | 26 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(23): Show |
intron_variant | MODIFIER | c.305-4970_305-4969d others(4): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45202440 | |||||
| chr13:45202440
|
G | T | 1 | a0001c0001t0001g0096 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.305-4984G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45202440 | ||||||
| chr13:45202509
|
T | G | 1 | a0001c0001t0001g0205 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.305-4915T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45202509 | ||||||
| chr13:45202690
|
C | G | 1 | a0001c0002t0001g0002 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.305-4734C>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45202690 | ||||||
| chr13:45202884
|
C | T | 7 | a0001c0002t0001g0105a0001c0002t0001g0144a0001c0002t0001g0145others(4): Show | 7 | HG00558.hp1 HG00609.hp2 NA18950.hp1 others(4): Show |
intron_variant | MODIFIER | c.305-4540C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45202884 | ||||||
| chr13:45203043
|
A | G | 2 | a0001c0001t0001g0207a0001c0001t0001g0208 | 2 | HG02647.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.305-4381A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45203043 | ||||||
| chr13:45203240
|
C | CT | 25 | a0001c0001t0001g0019a0001c0001t0001g0041a0001c0001t0001g0042others(22): Show | 25 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.305-4168dupT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45203240 | |||||
| chr13:45203248
|
T | C | 27 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(24): Show | 27 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(24): Show |
intron_variant | MODIFIER | c.305-4176T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45203248 | ||||||
| chr13:45203598
|
C | A | 1 | a0001c0001t0001g0070 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.305-3826C>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45203598 | ||||||
| chr13:45204105
|
A | G | 23 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(20): Show | 23 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.305-3319A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45204105 | ||||||
| chr13:45204120
|
T | TA | 3 | a0001c0002t0001g0123a0001c0002t0001g0175a0001c0002t0001g0193 | 3 | HG01257.hp1 HG01257.hp2 HG01934.hp2 |
intron_variant | MODIFIER | c.305-3299dupA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45204120 | |||||
| chr13:45204217
|
A | G | 1 | a0001c0001t0001g0205 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.305-3207A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45204217 | ||||||
| chr13:45204244
|
A | G | 1 | a0001c0002t0001g0113 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.305-3180A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45204244 | ||||||
| chr13:45204250
|
A | G | 1 | a0001c0002t0001g0203 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.305-3174A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45204250 | ||||||
| chr13:45204284
|
G | A | 50 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(47): Show | 50 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.305-3140G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45204284 | ||||||
| chr13:45204955
|
T | C | 1 | a0001c0001t0001g0099 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.305-2469T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45204955 | ||||||
| chr13:45205523
|
A | G | 3 | a0001c0001t0001g0008a0001c0001t0001g0016a0001c0001t0001g0017 | 3 | NA18954.hp1 NA18962.hp1 NA18982.hp2 |
intron_variant | MODIFIER | c.305-1901A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45205523 | ||||||
| chr13:45205581
|
A | G | 40 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(37): Show | 40 | HG00639.hp2 HG01109.hp2 HG01243.hp1 others(37): Show |
intron_variant | MODIFIER | c.305-1843A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45205581 | ||||||
| chr13:45205607
|
C | T | 6 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(3): Show | 6 | HG01496.hp1 HG02698.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.305-1817C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45205607 | ||||||
| chr13:45205843
|
T | C | 2 | a0001c0001t0001g0207a0001c0001t0001g0208 | 2 | HG02647.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.305-1581T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45205843 | ||||||
| chr13:45206082
|
G | A | 1 | a0001c0002t0001g0135 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.305-1342G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45206082 | ||||||
| chr13:45206138
|
A | T | 6 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(3): Show | 6 | HG01496.hp1 HG02698.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.305-1286A>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45206138 | ||||||
| chr13:45206198
|
G | T | 23 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(20): Show | 23 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.305-1226G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45206198 | ||||||
| chr13:45206534
|
T | C | 65 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(62): Show | 65 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(62): Show |
intron_variant | MODIFIER | c.305-890T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45206534 | ||||||
| chr13:45206696
|
T | G | 54 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(51): Show | 54 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(51): Show |
intron_variant | MODIFIER | c.305-728T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45206696 | ||||||
| chr13:45206736
|
A | T | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.305-688A>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45206736 | ||||||
| chr13:45207005
|
A | AAC | 14 | a0001c0001t0001g0013a0001c0001t0001g0034a0001c0001t0001g0035others(11): Show | 14 | HG01099.hp1 HG01109.hp2 HG01192.hp1 others(11): Show |
intron_variant | MODIFIER | c.305-382_305-381dup others(2): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45207005 | |||||
| chr13:45207005
|
A | AACAC | 30 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(27): Show | 30 | HG00558.hp2 HG01891.hp2 HG02055.hp2 others(27): Show |
intron_variant | MODIFIER | c.305-384_305-381dup others(4): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45207005 | |||||
| chr13:45207005
|
A | AACACAC | 22 | a0001c0001t0001g0019a0001c0001t0001g0023a0001c0001t0001g0037others(19): Show | 22 | HG00639.hp2 HG01109.hp1 HG01934.hp1 others(19): Show |
intron_variant | MODIFIER | c.305-386_305-381dup others(6): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45207005 | |||||
| chr13:45207005
|
A | AACACACA others(1): Show |
13 | a0001c0001t0001g0006a0001c0001t0001g0041a0001c0001t0001g0050others(10): Show | 13 | HG01069.hp1 HG01071.hp1 HG01074.hp1 others(10): Show |
intron_variant | MODIFIER | c.305-388_305-381dup others(8): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45207005 | |||||
| chr13:45207005
|
A | AACACACA others(3): Show |
13 | a0001c0001t0001g0025a0001c0001t0001g0042a0001c0001t0001g0049others(10): Show | 13 | HG00639.hp1 HG01070.hp1 HG01123.hp1 others(10): Show |
intron_variant | MODIFIER | c.305-390_305-381dup others(10): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45207005 | |||||
| chr13:45207005
|
A | AACACACA others(5): Show |
6 | a0001c0001t0001g0044a0001c0001t0001g0054a0001c0001t0001g0075others(3): Show | 6 | HG00280.hp2 HG01175.hp2 HG01192.hp2 others(3): Show |
intron_variant | MODIFIER | c.305-392_305-381dup others(12): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45207005 | |||||
| chr13:45207005
|
A | AACACACA others(9): Show |
1 | a0001c0001t0001g0087 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.305-396_305-381dup others(16): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45207005 | |||||
| chr13:45207005
|
A | C | 1 | a0001c0001t0001g0088 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.305-419A>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45207005 | ||||||
| chr13:45207005
|
AAC | A | 24 | a0001c0001t0005g0210a0001c0002t0001g0002a0001c0002t0001g0106others(21): Show | 24 | HG00423.hp1 HG00423.hp2 HG00673.hp2 others(21): Show |
intron_variant | MODIFIER | c.305-382_305-381del others(2): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45207005 | |||||
| chr13:45207005
|
AACAC | A | 11 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(8): Show | 11 | HG01261.hp2 HG01496.hp1 HG02630.hp1 others(8): Show |
intron_variant | MODIFIER | c.305-384_305-381del others(4): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | 45207005 | |||||
| chr13:45207156
|
T | C | 11 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(8): Show | 11 | HG01496.hp1 HG02630.hp1 HG02698.hp2 others(8): Show |
intron_variant | MODIFIER | c.305-268T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45207156 | ||||||
| chr13:45207201
|
A | G | 54 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(51): Show | 54 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(51): Show |
intron_variant | MODIFIER | c.305-223A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | 45207201 | ||||||
| chr13:45208101
|
G | T | 2 | a0001c0001t0001g0011a0001c0001t0001g0018 | 2 | HG03491.hp1 HG03688.hp1 |
intron_variant | MODIFIER | c.386+596G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45208101 | ||||||
| chr13:45208177
|
G | A | 105 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(102): Show | 105 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(102): Show |
intron_variant | MODIFIER | c.386+672G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45208177 | ||||||
| chr13:45208218
|
T | C | 54 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(51): Show | 54 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(51): Show |
intron_variant | MODIFIER | c.386+713T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45208218 | ||||||
| chr13:45208330
|
C | G | 1 | a0001c0001t0005g0210 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.386+825C>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45208330 | ||||||
| chr13:45208465
|
G | A | 40 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(37): Show | 40 | HG00639.hp2 HG01109.hp2 HG01243.hp1 others(37): Show |
intron_variant | MODIFIER | c.386+960G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45208465 | ||||||
| chr13:45208507
|
T | C | 9 | a0001c0002t0001g0106a0001c0002t0001g0121a0001c0002t0001g0124others(6): Show | 9 | HG00280.hp1 HG00423.hp2 HG01069.hp2 others(6): Show |
intron_variant | MODIFIER | c.386+1002T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45208507 | ||||||
| chr13:45208717
|
A | G | 1 | a0001c0002t0001g0166 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.386+1212A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45208717 | ||||||
| chr13:45208730
|
G | A | 27 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(24): Show | 27 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(24): Show |
intron_variant | MODIFIER | c.386+1225G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45208730 | ||||||
| chr13:45208846
|
T | C | 1 | a0001c0002t0001g0002 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.386+1341T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45208846 | ||||||
| chr13:45208900
|
C | T | 105 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(102): Show | 105 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(102): Show |
intron_variant | MODIFIER | c.386+1395C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45208900 | ||||||
| chr13:45208978
|
A | G | 2 | a0001c0001t0001g0207a0001c0001t0001g0208 | 2 | HG02647.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.386+1473A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45208978 | ||||||
| chr13:45209699
|
A | G | 54 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(51): Show | 54 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(51): Show |
intron_variant | MODIFIER | c.386+2194A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45209699 | ||||||
| chr13:45210096
|
T | G | 1 | a0001c0002t0001g0173 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.386+2591T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45210096 | ||||||
| chr13:45210105
|
A | G | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.386+2600A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45210105 | ||||||
| chr13:45210128
|
T | G | 95 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(92): Show | 95 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(92): Show |
intron_variant | MODIFIER | c.386+2623T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45210128 | ||||||
| chr13:45210282
|
C | T | 1 | a0001c0002t0001g0117 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.386+2777C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45210282 | ||||||
| chr13:45210361
|
T | C | 204 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(201): Show | 204 | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(201): Show |
intron_variant | MODIFIER | c.386+2856T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45210361 | ||||||
| chr13:45210468
|
A | G | 27 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(24): Show | 27 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(24): Show |
intron_variant | MODIFIER | c.386+2963A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45210468 | ||||||
| chr13:45210548
|
C | T | 40 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(37): Show | 40 | HG00639.hp2 HG01109.hp2 HG01243.hp1 others(37): Show |
intron_variant | MODIFIER | c.386+3043C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45210548 | ||||||
| chr13:45210628
|
G | A | 27 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(24): Show | 27 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(24): Show |
intron_variant | MODIFIER | c.386+3123G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45210628 | ||||||
| chr13:45210787
|
T | C | 1 | a0001c0001t0001g0059 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.386+3282T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45210787 | ||||||
| chr13:45210839
|
G | T | 4 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(1): Show | 4 | HG02630.hp1 HG03098.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.386+3334G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45210839 | ||||||
| chr13:45210992
|
A | G | 2 | a0001c0001t0001g0076a0001c0001t0001g0089 | 2 | HG02055.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.386+3487A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45210992 | ||||||
| chr13:45211187
|
C | T | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.386+3682C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45211187 | ||||||
| chr13:45211283
|
A | G | 1 | a0001c0001t0001g0101 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.386+3778A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45211283 | ||||||
| chr13:45211374
|
G | GT | 29 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(26): Show | 29 | HG00280.hp1 HG00280.hp2 HG00639.hp1 others(26): Show |
intron_variant | MODIFIER | c.386+3882dupT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45211374 | |||||
| chr13:45211585
|
AAT | A | 30 | a0001c0001t0001g0063a0001c0001t0001g0072a0001c0001t0001g0073others(27): Show | 30 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(27): Show |
intron_variant | MODIFIER | c.386+4081_386+4082d others(4): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45211585 | ||||||
| chr13:45211585
|
AATT | A | 22 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(19): Show | 22 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(19): Show |
intron_variant | MODIFIER | c.386+4081_386+4083d others(5): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45211585 | ||||||
| chr13:45211586
|
AT | A | 7 | a0001c0001t0001g0008a0001c0001t0001g0016a0001c0001t0001g0017others(4): Show | 7 | HG02630.hp1 HG03098.hp2 HG03540.hp2 others(4): Show |
intron_variant | MODIFIER | c.386+4097delT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45211586 | |||||
| chr13:45211587
|
T | A | 1 | a0001c0002t0001g0198 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.386+4082T>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45211587 | ||||||
| chr13:45211623
|
C | T | 1 | a0001c0002t0001g0130 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.386+4118C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45211623 | ||||||
| chr13:45211776
|
G | A | 2 | a0001c0001t0001g0207a0001c0001t0001g0208 | 2 | HG02647.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.386+4271G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45211776 | ||||||
| chr13:45211971
|
GCACACAC others(1): Show |
G | 6 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(3): Show | 6 | HG01496.hp1 HG02698.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.386+4470_386+4477d others(10): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45211971 | |||||
| chr13:45212055
|
G | T | 1 | a0001c0002t0001g0182 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.386+4550G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45212055 | ||||||
| chr13:45212341
|
A | G | 1 | a0001c0002t0001g0150 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.386+4836A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45212341 | ||||||
| chr13:45212367
|
G | A | 3 | a0001c0001t0001g0084a0001c0001t0001g0087a0001c0001t0001g0102 | 3 | HG01099.hp2 HG01123.hp1 HG03490.hp1 |
intron_variant | MODIFIER | c.386+4862G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45212367 | ||||||
| chr13:45212424
|
A | ATTTC | 20 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(17): Show | 20 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(17): Show |
intron_variant | MODIFIER | c.386+4938_386+4941d others(6): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45212424 | |||||
| chr13:45212443
|
T | G | 3 | a0001c0002t0001g0143a0001c0002t0001g0163a0001c0002t0001g0164 | 3 | HG02015.hp1 NA18945.hp1 NA18980.hp1 |
intron_variant | MODIFIER | c.386+4938T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45212443 | ||||||
| chr13:45212444
|
C | T | 3 | a0001c0002t0001g0143a0001c0002t0001g0163a0001c0002t0001g0164 | 3 | HG02015.hp1 NA18945.hp1 NA18980.hp1 |
intron_variant | MODIFIER | c.386+4939C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45212444 | ||||||
| chr13:45212446
|
T | TTCTTGTT others(20): Show |
2 | a0001c0001t0001g0049a0001c0001t0001g0057 | 2 | HG02896.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.386+4941_386+4942i others(29): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45212446 | ||||||
| chr13:45212446
|
T | TTCTTGTT others(25): Show |
1 | a0001c0001t0001g0064 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.386+4941_386+4942i others(34): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45212446 | ||||||
| chr13:45212447
|
G | C | 3 | a0001c0002t0001g0143a0001c0002t0001g0163a0001c0002t0001g0164 | 3 | HG02015.hp1 NA18945.hp1 NA18980.hp1 |
intron_variant | MODIFIER | c.386+4942G>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45212447 | ||||||
| chr13:45212447
|
G | GTTTCTTT others(11): Show |
22 | a0001c0001t0001g0015a0001c0001t0001g0018a0001c0001t0001g0023others(19): Show | 22 | HG01099.hp1 HG01123.hp2 HG01192.hp1 others(19): Show |
intron_variant | MODIFIER | c.386+4957_386+4958i others(20): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45212447 | |||||
| chr13:45212447
|
G | GTTTCTTT others(15): Show |
6 | a0001c0001t0001g0013a0001c0001t0002g0022a0001c0001t0002g0026others(3): Show | 6 | HG00423.hp2 HG01243.hp2 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.386+4957_386+4958i others(24): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45212447 | |||||
| chr13:45212447
|
G | GTTTCTTT others(16): Show |
14 | a0001c0002t0001g0104a0001c0002t0001g0127a0001c0002t0001g0136others(11): Show | 14 | HG00673.hp1 HG02074.hp2 HG03654.hp2 others(11): Show |
intron_variant | MODIFIER | c.386+4957_386+4958i others(25): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45212447 | |||||
| chr13:45212447
|
G | GTTTCTTT others(19): Show |
4 | a0001c0002t0001g0110a0001c0002t0001g0117a0001c0002t0001g0183others(1): Show | 4 | HG00423.hp1 HG00738.hp2 NA18954.hp2 others(1): Show |
intron_variant | MODIFIER | c.386+4957_386+4958i others(28): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45212447 | |||||
| chr13:45212447
|
G | GTTTCTTT others(20): Show |
3 | a0001c0002t0001g0137a0001c0002t0001g0165a0001c0002t0001g0168 | 3 | HG00609.hp1 NA18974.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.386+4957_386+4958i others(29): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45212447 | |||||
| chr13:45212447
|
G | GTTTCTTT others(21): Show |
1 | a0001c0002t0001g0160 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.386+4957_386+4958i others(30): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45212447 | |||||
| chr13:45212447
|
G | GTTTCTTT others(24): Show |
2 | a0001c0002t0001g0003a0001c0002t0001g0154 | 2 | NA18971.hp1 NA19005.hp2 |
intron_variant | MODIFIER | c.386+4957_386+4958i others(33): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45212447 | |||||
| chr13:45212447
|
G | T | 3 | a0001c0001t0001g0049a0001c0001t0001g0057a0001c0001t0001g0064 | 3 | HG02896.hp2 HG03540.hp1 NA18955.hp2 |
intron_variant | MODIFIER | c.386+4942G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45212447 | ||||||
| chr13:45212451
|
C | CTTTCTTT others(7): Show |
27 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(24): Show | 27 | HG00609.hp2 HG00639.hp2 HG01069.hp2 others(24): Show |
intron_variant | MODIFIER | c.386+4957_386+4958i others(16): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45212451 | |||||
| chr13:45212451
|
C | CTTTCTTT others(12): Show |
5 | a0001c0001t0001g0050a0001c0001t0001g0052a0001c0001t0001g0056others(2): Show | 5 | HG02273.hp2 HG02818.hp1 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.386+4957_386+4958i others(21): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45212451 | |||||
| chr13:45212451
|
C | CTTTCTTT others(17): Show |
1 | a0001c0001t0001g0063 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.386+4957_386+4958i others(26): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45212451 | |||||
| chr13:45212451
|
C | CTTTCTTT others(22): Show |
1 | a0001c0001t0001g0076 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.386+4957_386+4958i others(31): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45212451 | |||||
| chr13:45212451
|
C | CTTTCTTT others(27): Show |
3 | a0001c0001t0001g0084a0001c0001t0001g0088a0001c0001t0001g0089 | 3 | HG03490.hp1 HG03834.hp2 NA20752.hp1 |
intron_variant | MODIFIER | c.386+4957_386+4958i others(36): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45212451 | |||||
| chr13:45212451
|
C | CTTTCTTT others(8): Show |
2 | a0001c0002t0001g0163a0001c0002t0001g0164 | 2 | HG02015.hp1 NA18945.hp1 |
intron_variant | MODIFIER | c.386+4953_386+4954i others(17): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45212451 | |||||
| chr13:45212453
|
T | TTCTTTCT others(14): Show |
1 | a0001c0001t0001g0069 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.386+4957_386+4958i others(23): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45212453 | |||||
| chr13:45212455
|
C | CTTTCTTT others(3): Show |
31 | a0001c0001t0001g0016a0001c0001t0001g0019a0001c0001t0001g0024others(28): Show | 31 | HG00280.hp1 HG01070.hp2 HG01071.hp2 others(28): Show |
intron_variant | MODIFIER | c.386+4957_386+4958i others(12): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45212455 | |||||
| chr13:45212455
|
C | CTTTCTTT others(8): Show |
6 | a0001c0001t0001g0042a0001c0001t0001g0043a0001c0001t0001g0054others(3): Show | 6 | HG01106.hp1 HG02257.hp1 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.386+4957_386+4958i others(17): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45212455 | |||||
| chr13:45212455
|
C | CTTTCTTT others(13): Show |
2 | a0001c0001t0001g0061a0001c0001t0001g0065 | 2 | NA18950.hp2 NA19066.hp2 |
intron_variant | MODIFIER | c.386+4957_386+4958i others(22): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45212455 | |||||
| chr13:45212455
|
C | CTTTCTTT others(18): Show |
1 | a0001c0001t0004g0074 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.386+4957_386+4958i others(27): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45212455 | |||||
| chr13:45212457
|
T | TTCTTTTC others(10): Show |
4 | a0001c0001t0001g0068a0001c0001t0001g0101a0001c0001t0001g0205others(1): Show | 4 | HG02630.hp1 HG02698.hp2 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.386+4957_386+4958i others(19): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45212457 | |||||
| chr13:45212459
|
C | CT | 6 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0081others(3): Show | 6 | HG01070.hp1 HG01496.hp1 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.386+4957dupT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45212459 | |||||
| chr13:45212459
|
C | CTTTTCT | 19 | a0001c0001t0001g0012a0001c0001t0001g0059a0001c0002t0001g0103others(16): Show | 19 | HG00558.hp1 HG00673.hp2 HG01106.hp2 others(16): Show |
intron_variant | MODIFIER | c.386+4957_386+4958i others(8): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45212459 | |||||
| chr13:45212459
|
C | CTTTTCTT others(4): Show |
8 | a0001c0001t0001g0041a0001c0001t0001g0044a0001c0001t0001g0048others(5): Show | 8 | HG01074.hp1 HG01192.hp2 HG02257.hp2 others(5): Show |
intron_variant | MODIFIER | c.386+4957_386+4958i others(13): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45212459 | |||||
| chr13:45212459
|
C | CTTTTCTT others(9): Show |
12 | a0001c0001t0001g0058a0001c0001t0001g0062a0001c0001t0001g0072others(9): Show | 12 | HG01069.hp1 HG01071.hp1 HG01123.hp1 others(9): Show |
intron_variant | MODIFIER | c.386+4957_386+4958i others(18): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45212459 | |||||
| chr13:45212459
|
C | CTTTTCTT others(19): Show |
6 | a0001c0001t0001g0077a0001c0001t0001g0087a0001c0001t0001g0093others(3): Show | 6 | HG00738.hp1 HG01099.hp2 HG01175.hp2 others(3): Show |
intron_variant | MODIFIER | c.386+4957_386+4958i others(28): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45212459 | |||||
| chr13:45212461
|
T | TTTCTTTT others(6): Show |
2 | a0001c0001t0001g0066a0001c0001t0001g0067 | 2 | HG03540.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.386+4957_386+4958i others(15): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45212461 | |||||
| chr13:45212462
|
T | TTC | 4 | a0001c0001t0001g0017a0001c0001t0001g0045a0001c0001t0001g0053others(1): Show | 4 | HG03516.hp1 HG04199.hp2 NA18982.hp2 others(1): Show |
intron_variant | MODIFIER | c.386+4957_386+4958i others(4): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45212462 | ||||||
| chr13:45212462
|
T | TTCTTTTC | 3 | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0002t0001g0173 | 3 | HG01109.hp1 HG02451.hp1 HG02630.hp2 |
intron_variant | MODIFIER | c.386+4957_386+4958i others(9): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45212462 | ||||||
| chr13:45212462
|
T | TTCTTTTC others(5): Show |
4 | a0001c0001t0001g0060a0001c0001t0001g0086a0001c0001t0001g0091others(1): Show | 4 | HG00558.hp2 HG00639.hp1 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.386+4957_386+4958i others(14): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45212462 | ||||||
| chr13:45212462
|
T | TTCTTTTC others(15): Show |
1 | a0001c0001t0001g0083 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.386+4957_386+4958i others(24): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45212462 | ||||||
| chr13:45212462
|
T | TTCTTTTC others(20): Show |
3 | a0001c0001t0001g0082a0001c0001t0001g0092a0001c0001t0001g0208 | 3 | HG02132.hp1 HG02647.hp1 HG03669.hp1 |
intron_variant | MODIFIER | c.386+4957_386+4958i others(29): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45212462 | ||||||
| chr13:45212463
|
C | T | 15 | a0001c0001t0001g0017a0001c0001t0001g0045a0001c0001t0001g0046others(12): Show | 15 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(12): Show |
intron_variant | MODIFIER | c.386+4958C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45212463 | ||||||
| chr13:45212466
|
T | C | 1 | a0001c0002t0001g0111 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.386+4961T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45212466 | ||||||
| chr13:45212466
|
T | TTC | 10 | a0001c0001t0001g0059a0001c0001t0001g0073a0001c0001t0001g0078others(7): Show | 10 | HG01069.hp1 HG01071.hp1 HG01123.hp1 others(7): Show |
intron_variant | MODIFIER | c.386+4961_386+4962i others(4): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45212466 | ||||||
| chr13:45212466
|
T | TTCTTTTC others(15): Show |
2 | a0001c0001t0001g0081a0001c0001t0001g0207 | 2 | HG01070.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.386+4961_386+4962i others(24): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45212466 | ||||||
| chr13:45212467
|
C | T | 17 | a0001c0001t0001g0059a0001c0001t0001g0070a0001c0001t0001g0071others(14): Show | 17 | HG01069.hp1 HG01070.hp1 HG01071.hp1 others(14): Show |
intron_variant | MODIFIER | c.386+4962C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45212467 | ||||||
| chr13:45212468
|
T | C | 4 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(1): Show | 4 | HG01496.hp1 HG02723.hp2 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.386+4963T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45212468 | ||||||
| chr13:45212470
|
T | TTC | 3 | a0001c0001t0001g0086a0001c0001t0001g0091a0001c0001t0001g0098 | 3 | HG00639.hp1 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.386+4965_386+4966i others(4): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45212470 | ||||||
| chr13:45212471
|
C | T | 7 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0086others(4): Show | 7 | HG00639.hp1 HG01496.hp1 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.386+4966C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45212471 | ||||||
| chr13:45212473
|
T | C | 4 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(1): Show | 4 | HG01496.hp1 HG02723.hp2 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.386+4968T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45212473 | ||||||
| chr13:45212520
|
C | CTCTTTCT others(49): Show |
4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.386+5030_386+5031i others(58): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45212520 | |||||
| chr13:45212520
|
C | CTCTTTCT others(47): Show |
23 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(20): Show | 23 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.386+5030_386+5031i others(56): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45212520 | |||||
| chr13:45212520
|
C | CTCTTTCT others(45): Show |
26 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(23): Show | 26 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(23): Show |
intron_variant | MODIFIER | c.386+5030_386+5031i others(54): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45212520 | |||||
| chr13:45212520
|
C | CTCTTTCT others(41): Show |
1 | a0001c0001t0001g0102 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.386+5030_386+5031i others(50): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45212520 | |||||
| chr13:45212540
|
T | TTCTC | 54 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(51): Show | 54 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(51): Show |
intron_variant | MODIFIER | c.386+5045_386+5048d others(6): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45212540 | |||||
| chr13:45212562
|
T | C | 9 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(6): Show | 9 | HG01069.hp1 HG01071.hp1 HG01175.hp2 others(6): Show |
intron_variant | MODIFIER | c.386+5057T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45212562 | ||||||
| chr13:45213022
|
G | A | 1 | a0001c0001t0001g0075 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.386+5517G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45213022 | ||||||
| chr13:45213037
|
C | T | 3 | a0001c0002t0001g0186a0001c0002t0001g0187a0001c0002t0001g0194 | 3 | HG01069.hp2 HG02273.hp1 NA19003.hp2 |
intron_variant | MODIFIER | c.386+5532C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45213037 | ||||||
| chr13:45213083
|
C | A | 62 | a0001c0001t0001g0023a0001c0001t0001g0025a0001c0001t0001g0030others(59): Show | 62 | HG00280.hp2 HG00609.hp1 HG00639.hp1 others(59): Show |
intron_variant | MODIFIER | c.386+5578C>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45213083 | ||||||
| chr13:45213086
|
A | C | 1 | a0001c0001t0001g0072 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.386+5581A>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45213086 | ||||||
| chr13:45213239
|
C | T | 2 | a0001c0001t0001g0072a0001c0002t0001g0124 | 2 | HG01975.hp1 NA19060.hp1 |
intron_variant | MODIFIER | c.386+5734C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45213239 | ||||||
| chr13:45213262
|
G | A | 1 | a0001c0002t0001g0188 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.386+5757G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45213262 | ||||||
| chr13:45213283
|
G | A | 1 | a0001c0002t0001g0206 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.386+5778G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45213283 | ||||||
| chr13:45213287
|
G | A | 4 | a0001c0001t0001g0011a0001c0001t0001g0018a0001c0001t0001g0019others(1): Show | 4 | HG01934.hp1 HG02622.hp1 HG03491.hp1 others(1): Show |
intron_variant | MODIFIER | c.386+5782G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45213287 | ||||||
| chr13:45213321
|
C | T | 6 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(3): Show | 6 | HG01496.hp1 HG02698.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.386+5816C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45213321 | ||||||
| chr13:45213380
|
T | G | 1 | a0001c0001t0001g0099 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.386+5875T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45213380 | ||||||
| chr13:45213674
|
CT | C | 50 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(47): Show | 50 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.386+6179delT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45213674 | |||||
| chr13:45214047
|
A | G | 1 | a0001c0002t0001g0195 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.386+6542A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45214047 | ||||||
| chr13:45214122
|
G | A | 1 | a0001c0002t0001g0192 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.386+6617G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45214122 | ||||||
| chr13:45214165
|
T | G | 1 | a0001c0002t0001g0191 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.386+6660T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45214165 | ||||||
| chr13:45214930
|
A | G | 25 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(22): Show | 25 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(22): Show |
intron_variant | MODIFIER | c.386+7425A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45214930 | ||||||
| chr13:45214964
|
T | C | 1 | a0001c0002t0001g0175 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.386+7459T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45214964 | ||||||
| chr13:45215002
|
T | C | 54 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(51): Show | 54 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(51): Show |
intron_variant | MODIFIER | c.386+7497T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45215002 | ||||||
| chr13:45215019
|
G | A | 2 | a0001c0001t0001g0010a0001c0001t0001g0033 | 2 | HG02965.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.386+7514G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45215019 | ||||||
| chr13:45215070
|
A | C | 54 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(51): Show | 54 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(51): Show |
intron_variant | MODIFIER | c.386+7565A>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45215070 | ||||||
| chr13:45215088
|
T | A | 54 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(51): Show | 54 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(51): Show |
intron_variant | MODIFIER | c.386+7583T>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45215088 | ||||||
| chr13:45215406
|
C | T | 27 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(24): Show | 27 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(24): Show |
intron_variant | MODIFIER | c.386+7901C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45215406 | ||||||
| chr13:45215536
|
G | A | 1 | a0001c0002t0001g0121 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.386+8031G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45215536 | ||||||
| chr13:45215617
|
C | A | 3 | a0001c0002t0001g0109a0001c0002t0001g0179a0001c0002t0001g0201 | 3 | HG01975.hp2 HG02083.hp1 HG02273.hp2 |
intron_variant | MODIFIER | c.386+8112C>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45215617 | ||||||
| chr13:45215757
|
G | GA | 27 | a0001c0001t0001g0011a0001c0001t0001g0014a0001c0001t0001g0015others(24): Show | 27 | HG00280.hp1 HG00423.hp1 HG00423.hp2 others(24): Show |
intron_variant | MODIFIER | c.386+8267dupA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45215757 | |||||
| chr13:45216001
|
C | T | 23 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(20): Show | 23 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.386+8496C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45216001 | ||||||
| chr13:45216002
|
G | A | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.386+8497G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45216002 | ||||||
| chr13:45216088
|
A | G | 1 | a0001c0002t0001g0128 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.386+8583A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45216088 | ||||||
| chr13:45216813
|
C | T | 1 | a0001c0001t0001g0006 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.386+9308C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45216813 | ||||||
| chr13:45216872
|
T | C | 3 | a0001c0001t0002g0021a0001c0001t0002g0026a0001c0001t0002g0032 | 3 | HG02922.hp2 HG03098.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.386+9367T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45216872 | ||||||
| chr13:45217153
|
G | T | 1 | a0001c0001t0002g0007 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.386+9648G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45217153 | ||||||
| chr13:45217297
|
CA | C | 103 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(100): Show | 103 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(100): Show |
intron_variant | MODIFIER | c.386+9811delA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45217297 | |||||
| chr13:45218238
|
A | G | 40 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(37): Show | 40 | HG00639.hp2 HG01109.hp2 HG01243.hp1 others(37): Show |
intron_variant | MODIFIER | c.386+10733A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45218238 | ||||||
| chr13:45218604
|
A | G | 1 | a0001c0002t0001g0197 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.386+11099A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45218604 | ||||||
| chr13:45218733
|
T | C | 1 | a0001c0002t0001g0206 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.386+11228T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45218733 | ||||||
| chr13:45218768
|
T | TA | 6 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(3): Show | 6 | HG01496.hp1 HG02698.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.386+11266dupA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45218768 | |||||
| chr13:45219035
|
G | GT | 15 | a0001c0002t0001g0104a0001c0002t0001g0119a0001c0002t0001g0136others(12): Show | 15 | HG00609.hp1 HG00673.hp1 HG02074.hp2 others(12): Show |
intron_variant | MODIFIER | c.386+11538dupT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45219035 | |||||
| chr13:45219040
|
T | G | 6 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(3): Show | 6 | HG01496.hp1 HG02698.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.386+11535T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45219040 | ||||||
| chr13:45219044
|
A | T | 11 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(8): Show | 11 | HG01496.hp1 HG02630.hp1 HG02698.hp2 others(8): Show |
intron_variant | MODIFIER | c.386+11539A>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45219044 | ||||||
| chr13:45219107
|
C | G | 1 | a0001c0002t0001g0002 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.386+11602C>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45219107 | ||||||
| chr13:45219166
|
T | TA | 119 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(116): Show | 119 | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(116): Show |
intron_variant | MODIFIER | c.386+11672dupA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45219166 | |||||
| chr13:45219166
|
T | TAA | 58 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(55): Show | 58 | HG00609.hp1 HG00639.hp2 HG00673.hp1 others(55): Show |
intron_variant | MODIFIER | c.386+11671_386+1167 others(6): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45219166 | |||||
| chr13:45219227
|
G | A | 1 | a0001c0001t0001g0096 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.386+11722G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45219227 | ||||||
| chr13:45219304
|
C | A | 54 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(51): Show | 54 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(51): Show |
intron_variant | MODIFIER | c.386+11799C>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45219304 | ||||||
| chr13:45219337
|
A | G | 1 | a0001c0002t0001g0169 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.386+11832A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45219337 | ||||||
| chr13:45219386
|
T | G | 6 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0034others(3): Show | 6 | HG01109.hp2 HG01361.hp1 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.386+11881T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45219386 | ||||||
| chr13:45219431
|
C | T | 1 | a0001c0001t0002g0028 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.386+11926C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45219431 | ||||||
| chr13:45219524
|
T | G | 4 | a0001c0001t0001g0011a0001c0001t0001g0018a0001c0001t0001g0019others(1): Show | 4 | HG01934.hp1 HG02622.hp1 HG03491.hp1 others(1): Show |
intron_variant | MODIFIER | c.386+12019T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45219524 | ||||||
| chr13:45219958
|
G | A | 2 | a0001c0002t0001g0195a0001c0002t0001g0200 | 2 | HG03704.hp2 NA18948.hp1 |
intron_variant | MODIFIER | c.386+12453G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45219958 | ||||||
| chr13:45220295
|
T | C | 2 | a0001c0001t0001g0014a0001c0001t0001g0015 | 2 | HG01891.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.386+12790T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45220295 | ||||||
| chr13:45220349
|
A | G | 3 | a0001c0002t0001g0003a0001c0002t0001g0163a0001c0002t0001g0164 | 3 | HG02015.hp1 NA18945.hp1 NA18971.hp1 |
intron_variant | MODIFIER | c.386+12844A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45220349 | ||||||
| chr13:45220428
|
A | T | 2 | a0001c0001t0001g0207a0001c0001t0001g0208 | 2 | HG02647.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.386+12923A>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45220428 | ||||||
| chr13:45220694
|
G | A | 1 | a0001c0002t0001g0176 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.386+13189G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45220694 | ||||||
| chr13:45220826
|
A | G | 1 | a0001c0001t0001g0205 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.386+13321A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45220826 | ||||||
| chr13:45220937
|
A | ATG | 10 | a0001c0001t0001g0039a0001c0002t0001g0108a0001c0002t0001g0109others(7): Show | 10 | HG00609.hp1 HG01975.hp2 HG02040.hp2 others(7): Show |
intron_variant | MODIFIER | c.386+13462_386+1346 others(6): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45220937 | |||||
| chr13:45220937
|
A | ATGTG | 4 | a0001c0001t0001g0101a0001c0001t0001g0205a0001c0002t0001g0105others(1): Show | 4 | HG00609.hp2 HG02698.hp2 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.386+13460_386+1346 others(8): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45220937 | |||||
| chr13:45220937
|
A | ATGTGTG | 3 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099 | 3 | HG01496.hp1 HG02723.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.386+13458_386+1346 others(10): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45220937 | |||||
| chr13:45220937
|
ATG | A | 17 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(14): Show | 17 | HG00423.hp2 HG01109.hp1 HG01109.hp2 others(14): Show |
intron_variant | MODIFIER | c.386+13462_386+1346 others(6): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45220937 | |||||
| chr13:45220937
|
ATGTG | A | 52 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(49): Show | 52 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(49): Show |
intron_variant | MODIFIER | c.386+13460_386+1346 others(8): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45220937 | |||||
| chr13:45220937
|
ATGTGTGT others(5): Show |
A | 6 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(3): Show | 6 | HG02630.hp1 HG03098.hp2 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.386+13452_386+1346 others(16): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45220937 | |||||
| chr13:45220937
|
ATGTGTGT others(7): Show |
A | 1 | a0001c0001t0001g0024 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.386+13450_386+1346 others(18): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45220937 | |||||
| chr13:45220988
|
G | T | 25 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(22): Show | 25 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(22): Show |
intron_variant | MODIFIER | c.386+13483G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45220988 | ||||||
| chr13:45221019
|
C | T | 1 | a0001c0002t0001g0002 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.386+13514C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45221019 | ||||||
| chr13:45221182
|
T | C | 41 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(38): Show | 41 | HG00639.hp2 HG01109.hp2 HG01243.hp1 others(38): Show |
intron_variant | MODIFIER | c.386+13677T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45221182 | ||||||
| chr13:45221196
|
C | T | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.386+13691C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45221196 | ||||||
| chr13:45221275
|
G | A | 1 | a0001c0001t0005g0210 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.386+13770G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45221275 | ||||||
| chr13:45221378
|
G | T | 5 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(2): Show | 5 | HG02630.hp1 HG03098.hp2 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.386+13873G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45221378 | ||||||
| chr13:45221530
|
G | A | 1 | a0001c0002t0001g0132 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.386+14025G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45221530 | ||||||
| chr13:45221847
|
A | C | 2 | a0001c0002t0001g0122a0001c0002t0001g0129 | 2 | HG01496.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.386+14342A>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45221847 | ||||||
| chr13:45222037
|
T | C | 1 | a0001c0002t0003g0133 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.386+14532T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45222037 | ||||||
| chr13:45222597
|
AT | A | 27 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(24): Show | 27 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(24): Show |
intron_variant | MODIFIER | c.386+15100delT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45222597 | |||||
| chr13:45222723
|
A | G | 40 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(37): Show | 40 | HG00639.hp2 HG01109.hp2 HG01243.hp1 others(37): Show |
intron_variant | MODIFIER | c.386+15218A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45222723 | ||||||
| chr13:45223262
|
T | TA | 26 | a0001c0001t0001g0052a0001c0001t0001g0077a0001c0001t0001g0079others(23): Show | 26 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(23): Show |
intron_variant | MODIFIER | c.386+15781dupA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45223262 | |||||
| chr13:45223262
|
T | TAA | 15 | a0001c0001t0001g0043a0001c0001t0001g0046a0001c0001t0001g0047others(12): Show | 15 | HG00558.hp2 HG01109.hp1 HG02055.hp1 others(12): Show |
intron_variant | MODIFIER | c.386+15780_386+1578 others(6): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45223262 | |||||
| chr13:45223262
|
T | TAAA | 11 | a0001c0001t0001g0041a0001c0001t0001g0050a0001c0001t0001g0051others(8): Show | 11 | HG01074.hp1 HG01975.hp1 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.386+15779_386+1578 others(7): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45223262 | |||||
| chr13:45223262
|
TA | T | 96 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(93): Show | 96 | HG00280.hp1 HG00423.hp1 HG00423.hp2 others(93): Show |
intron_variant | MODIFIER | c.386+15781delA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45223262 | |||||
| chr13:45223262
|
TAAAAAAA | T | 37 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(34): Show | 37 | HG01109.hp2 HG01361.hp1 HG01891.hp2 others(34): Show |
intron_variant | MODIFIER | c.386+15775_386+1578 others(11): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45223262 | |||||
| chr13:45223264
|
A | T | 1 | a0001c0002t0001g0002 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.386+15759A>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45223264 | ||||||
| chr13:45223774
|
A | T | 50 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(47): Show | 50 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.386+16269A>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45223774 | ||||||
| chr13:45223888
|
T | C | 50 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(47): Show | 50 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.386+16383T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45223888 | ||||||
| chr13:45224118
|
A | C | 65 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(62): Show | 65 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(62): Show |
intron_variant | MODIFIER | c.386+16613A>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45224118 | ||||||
| chr13:45224137
|
C | T | 1 | a0001c0002t0001g0162 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.386+16632C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45224137 | ||||||
| chr13:45224254
|
A | G | 1 | a0001c0002t0001g0132 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.386+16749A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45224254 | ||||||
| chr13:45224830
|
A | C | 1 | a0001c0001t0001g0059 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.386+17325A>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45224830 | ||||||
| chr13:45224890
|
C | T | 1 | a0001c0001t0001g0019 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.386+17385C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45224890 | ||||||
| chr13:45224909
|
C | A | 1 | a0001c0001t0005g0210 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.386+17404C>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45224909 | ||||||
| chr13:45224941
|
C | T | 2 | a0001c0001t0001g0207a0001c0001t0001g0208 | 2 | HG02647.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.386+17436C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45224941 | ||||||
| chr13:45225011
|
C | G | 23 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(20): Show | 23 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.386+17506C>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45225011 | ||||||
| chr13:45225068
|
G | A | 6 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(3): Show | 6 | HG01496.hp1 HG02698.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.386+17563G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45225068 | ||||||
| chr13:45225400
|
T | TATCATTT others(2766): Show |
1 | a0001c0001t0001g0069 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.386+17912_386+1791 others(2777): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45225400 | |||||
| chr13:45225400
|
T | TATCATTT others(2775): Show |
1 | a0001c0001t0005g0210 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.386+17912_386+1791 others(2786): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45225400 | |||||
| chr13:45225400
|
T | TATCATTT others(2775): Show |
2 | a0001c0001t0001g0067a0001c0001t0001g0068 | 2 | HG02630.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.386+17912_386+1791 others(2786): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45225400 | |||||
| chr13:45225400
|
T | TATCATTT others(2775): Show |
1 | a0001c0001t0001g0066 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.386+17912_386+1791 others(2786): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45225400 | |||||
| chr13:45225457
|
C | A | 2 | a0001c0001t0001g0045a0001c0001t0001g0053 | 2 | HG03516.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.386+17952C>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45225457 | ||||||
| chr13:45225552
|
A | G | 1 | a0001c0002t0001g0132 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.386+18047A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45225552 | ||||||
| chr13:45225611
|
C | CA | 53 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(50): Show | 53 | HG00423.hp1 HG00558.hp2 HG00673.hp1 others(50): Show |
intron_variant | MODIFIER | c.386+18126dupA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45225611 | |||||
| chr13:45225611
|
C | CAAA | 6 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(3): Show | 6 | HG01496.hp1 HG02698.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.386+18124_386+1812 others(7): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45225611 | |||||
| chr13:45225611
|
C | CAAAA | 5 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(2): Show | 5 | HG02630.hp1 HG03098.hp2 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.386+18123_386+1812 others(8): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45225611 | |||||
| chr13:45225611
|
CA | C | 6 | a0001c0001t0001g0075a0001c0001t0002g0032a0001c0002t0001g0109others(3): Show | 6 | HG01099.hp1 HG01975.hp2 HG02809.hp1 others(3): Show |
intron_variant | MODIFIER | c.386+18126delA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45225611 | |||||
| chr13:45225843
|
G | A | 3 | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0038 | 3 | HG01361.hp1 HG02976.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.386+18338G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45225843 | ||||||
| chr13:45226058
|
G | GA | 43 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(40): Show | 43 | HG00609.hp2 HG00639.hp2 HG01109.hp2 others(40): Show |
intron_variant | MODIFIER | c.386+18565dupA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45226058 | |||||
| chr13:45226146
|
T | C | 1 | a0001c0002t0001g0149 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.386+18641T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45226146 | ||||||
| chr13:45226205
|
A | G | 1 | a0001c0002t0001g0198 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.386+18700A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45226205 | ||||||
| chr13:45226270
|
A | G | 40 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(37): Show | 40 | HG00639.hp2 HG01109.hp2 HG01243.hp1 others(37): Show |
intron_variant | MODIFIER | c.386+18765A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45226270 | ||||||
| chr13:45226421
|
G | A | 2 | a0001c0001t0001g0070a0001c0001t0001g0071 | 2 | HG02723.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.386+18916G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45226421 | ||||||
| chr13:45226444
|
T | C | 1 | a0001c0001t0001g0209 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.386+18939T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45226444 | ||||||
| chr13:45226454
|
G | C | 4 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(1): Show | 4 | HG02630.hp1 HG03098.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.386+18949G>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45226454 | ||||||
| chr13:45226512
|
C | T | 54 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(51): Show | 54 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(51): Show |
intron_variant | MODIFIER | c.386+19007C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45226512 | ||||||
| chr13:45226882
|
C | G | 1 | a0001c0002t0001g0180 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.386+19377C>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45226882 | ||||||
| chr13:45227091
|
C | A | 1 | a0001c0001t0001g0084 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.386+19586C>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45227091 | ||||||
| chr13:45227095
|
G | A | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.386+19590G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45227095 | ||||||
| chr13:45227892
|
A | G | 40 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(37): Show | 40 | HG00639.hp2 HG01109.hp2 HG01243.hp1 others(37): Show |
intron_variant | MODIFIER | c.386+20387A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45227892 | ||||||
| chr13:45227956
|
A | G | 5 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(2): Show | 5 | HG02630.hp1 HG03098.hp2 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.386+20451A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45227956 | ||||||
| chr13:45228152
|
T | G | 1 | a0001c0002t0001g0114 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.386+20647T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45228152 | ||||||
| chr13:45228217
|
T | C | 2 | a0001c0001t0001g0046a0001c0001t0001g0047 | 2 | HG01109.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.386+20712T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45228217 | ||||||
| chr13:45228283
|
C | CTTTTTTT others(3): Show |
5 | a0001c0001t0001g0005a0001c0001t0001g0070a0001c0001t0001g0071others(2): Show | 5 | HG01496.hp1 HG02622.hp2 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.386+20785_386+2079 others(14): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45228283 | |||||
| chr13:45228283
|
C | CTTTTTTT others(4): Show |
36 | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0011others(33): Show | 36 | HG00639.hp2 HG01109.hp2 HG01243.hp1 others(33): Show |
intron_variant | MODIFIER | c.386+20784_386+2079 others(15): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45228283 | |||||
| chr13:45228283
|
C | CTTTTTTT others(5): Show |
4 | a0001c0001t0001g0008a0001c0001t0001g0018a0001c0001t0002g0026others(1): Show | 4 | HG03098.hp1 HG03453.hp2 HG03688.hp1 others(1): Show |
intron_variant | MODIFIER | c.386+20783_386+2079 others(16): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45228283 | |||||
| chr13:45228283
|
C | CTTTTTTT others(6): Show |
1 | a0001c0001t0001g0064 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.386+20782_386+2079 others(17): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45228283 | |||||
| chr13:45228283
|
C | CTTTTTTT others(7): Show |
1 | a0001c0001t0001g0048 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.386+20781_386+2079 others(18): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45228283 | |||||
| chr13:45228283
|
C | CTTTTTTT others(9): Show |
2 | a0001c0001t0001g0207a0001c0001t0001g0208 | 2 | HG02647.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.386+20779_386+2079 others(20): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45228283 | |||||
| chr13:45228283
|
C | CTTTTTTT others(12): Show |
1 | a0001c0001t0001g0209 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.386+20794_386+2079 others(23): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45228283 | |||||
| chr13:45228283
|
C | CTTTTTTT others(15): Show |
2 | a0001c0001t0001g0072a0001c0001t0001g0075 | 2 | HG01975.hp1 HG02809.hp1 |
intron_variant | MODIFIER | c.386+20794_386+2079 others(26): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45228283 | |||||
| chr13:45228283
|
C | CTTTTTTT others(16): Show |
1 | a0001c0001t0001g0073 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.386+20794_386+2079 others(27): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45228283 | |||||
| chr13:45228283
|
C | CTTTTTTT others(17): Show |
1 | a0001c0001t0001g0057 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.386+20794_386+2079 others(28): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45228283 | |||||
| chr13:45228283
|
C | CTTTTTTT others(18): Show |
4 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0050others(1): Show | 4 | HG01074.hp1 HG02257.hp1 HG02258.hp1 others(1): Show |
intron_variant | MODIFIER | c.386+20794_386+2079 others(29): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45228283 | |||||
| chr13:45228283
|
C | CTTTTTTT others(19): Show |
5 | a0001c0001t0001g0063a0001c0001t0001g0090a0001c0001t0001g0097others(2): Show | 5 | HG00639.hp1 HG01069.hp1 HG01071.hp1 others(2): Show |
intron_variant | MODIFIER | c.386+20794_386+2079 others(30): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45228283 | |||||
| chr13:45228283
|
C | CTTTTTTT others(20): Show |
11 | a0001c0001t0001g0043a0001c0001t0001g0047a0001c0001t0001g0052others(8): Show | 11 | HG01109.hp1 HG01175.hp2 HG02132.hp1 others(8): Show |
intron_variant | MODIFIER | c.386+20794_386+2079 others(31): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45228283 | |||||
| chr13:45228283
|
C | CTTTTTTT others(21): Show |
3 | a0001c0001t0001g0059a0001c0001t0001g0077a0001c0001t0001g0102 | 3 | HG01123.hp1 HG02109.hp2 NA18980.hp2 |
intron_variant | MODIFIER | c.386+20794_386+2079 others(32): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45228283 | |||||
| chr13:45228283
|
C | CTTTTTTT others(22): Show |
1 | a0001c0001t0001g0094 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.386+20794_386+2079 others(33): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45228283 | |||||
| chr13:45228283
|
C | CTTTTTTT others(25): Show |
4 | a0001c0001t0001g0049a0001c0001t0001g0084a0001c0001t0001g0087others(1): Show | 4 | HG01099.hp2 HG03490.hp1 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.386+20794_386+2079 others(36): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45228283 | |||||
| chr13:45228283
|
C | CTTTTTTT others(26): Show |
4 | a0001c0001t0001g0061a0001c0001t0001g0080a0001c0001t0001g0086others(1): Show | 4 | HG02896.hp1 HG02897.hp1 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.386+20794_386+2079 others(37): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45228283 | |||||
| chr13:45228283
|
C | CTTTTTTT others(29): Show |
3 | a0001c0001t0001g0044a0001c0001t0001g0054a0001c0001t0004g0074 | 3 | HG01192.hp2 HG02615.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.386+20794_386+2079 others(40): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45228283 | |||||
| chr13:45228283
|
C | CTTTTTTT others(30): Show |
1 | a0001c0001t0001g0046 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.386+20794_386+2079 others(41): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45228283 | |||||
| chr13:45228283
|
C | CTTTTTTT others(31): Show |
1 | a0001c0001t0001g0088 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.386+20794_386+2079 others(42): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45228283 | |||||
| chr13:45228283
|
C | CTTTTTTT others(35): Show |
1 | a0001c0001t0001g0085 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.386+20794_386+2079 others(46): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45228283 | |||||
| chr13:45228283
|
C | CTTTTTTT others(38): Show |
1 | a0001c0001t0001g0076 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.386+20794_386+2079 others(49): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45228283 | |||||
| chr13:45228283
|
C | CTTTTTTT others(41): Show |
1 | a0001c0001t0001g0060 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.386+20794_386+2079 others(52): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45228283 | |||||
| chr13:45228436
|
A | G | 1 | a0001c0002t0001g0188 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.386+20931A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45228436 | ||||||
| chr13:45228472
|
G | A | 152 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(149): Show | 152 | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(149): Show |
intron_variant | MODIFIER | c.386+20967G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45228472 | ||||||
| chr13:45228473
|
C | A | 1 | a0001c0002t0001g0111 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.386+20968C>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45228473 | ||||||
| chr13:45228529
|
T | C | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.386+21024T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45228529 | ||||||
| chr13:45228636
|
C | T | 1 | a0001c0001t0001g0102 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.386+21131C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45228636 | ||||||
| chr13:45228669
|
C | CTTTTTT | 25 | a0001c0001t0001g0064a0001c0001t0001g0068a0001c0001t0001g0077others(22): Show | 25 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(22): Show |
intron_variant | MODIFIER | c.386+21177_386+2118 others(10): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45228669 | |||||
| chr13:45228669
|
C | CTTTTTTT | 31 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0041others(28): Show | 31 | HG00558.hp2 HG01074.hp1 HG01192.hp2 others(28): Show |
intron_variant | MODIFIER | c.386+21176_386+2118 others(11): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45228669 | |||||
| chr13:45228669
|
C | CTTTTTTT others(1): Show |
39 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(36): Show | 39 | HG00639.hp2 HG01109.hp1 HG01109.hp2 others(36): Show |
intron_variant | MODIFIER | c.386+21175_386+2118 others(12): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45228669 | |||||
| chr13:45228669
|
C | CTTTTTTT others(2): Show |
7 | a0001c0001t0001g0017a0001c0001t0001g0053a0001c0001t0001g0072others(4): Show | 7 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(4): Show |
intron_variant | MODIFIER | c.386+21174_386+2118 others(13): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45228669 | |||||
| chr13:45228785
|
C | T | 1 | a0001c0001t0001g0088 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.386+21280C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45228785 | ||||||
| chr13:45229042
|
C | T | 1 | a0001c0001t0001g0012 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.386+21537C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45229042 | ||||||
| chr13:45229054
|
G | A | 1 | a0001c0002t0001g0110 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.386+21549G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45229054 | ||||||
| chr13:45229072
|
A | G | 37 | a0001c0001t0001g0058a0001c0001t0001g0060a0001c0001t0001g0061others(34): Show | 37 | HG00558.hp2 HG00609.hp1 HG00673.hp1 others(34): Show |
intron_variant | MODIFIER | c.386+21567A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45229072 | ||||||
| chr13:45229107
|
T | C | 1 | a0001c0002t0001g0111 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.386+21602T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45229107 | ||||||
| chr13:45229281
|
C | G | 28 | a0001c0002t0001g0002a0001c0002t0001g0003a0001c0002t0001g0104others(25): Show | 28 | HG00609.hp1 HG00673.hp1 HG01106.hp1 others(25): Show |
intron_variant | MODIFIER | c.386+21776C>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45229281 | ||||||
| chr13:45229304
|
C | T | 6 | a0001c0001t0001g0058a0001c0001t0001g0060a0001c0001t0001g0061others(3): Show | 6 | HG00558.hp2 NA18945.hp2 NA18950.hp2 others(3): Show |
intron_variant | MODIFIER | c.386+21799C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45229304 | ||||||
| chr13:45229352
|
C | T | 1 | a0001c0001t0001g0008 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.386+21847C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45229352 | ||||||
| chr13:45229353
|
A | T | 16 | a0001c0001t0001g0011a0001c0001t0001g0073a0001c0001t0001g0088others(13): Show | 16 | HG00423.hp2 HG00673.hp1 HG01069.hp2 others(13): Show |
intron_variant | MODIFIER | c.386+21848A>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45229353 | ||||||
| chr13:45229394
|
G | T | 1 | a0001c0001t0001g0037 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.386+21889G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45229394 | ||||||
| chr13:45229396
|
C | T | 1 | a0001c0002t0001g0002 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.386+21891C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45229396 | ||||||
| chr13:45229447
|
A | G | 2 | a0001c0002t0001g0159a0001c0002t0001g0204 | 2 | NA18970.hp2 NA19075.hp1 |
intron_variant | MODIFIER | c.386+21942A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45229447 | ||||||
| chr13:45229658
|
G | A | 2 | a0001c0001t0001g0045a0001c0001t0001g0053 | 2 | HG03516.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.386+22153G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45229658 | ||||||
| chr13:45229820
|
C | A | 1 | a0001c0001t0001g0023 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.386+22315C>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45229820 | ||||||
| chr13:45229913
|
G | A | 25 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(22): Show | 25 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(22): Show |
intron_variant | MODIFIER | c.386+22408G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45229913 | ||||||
| chr13:45230045
|
A | G | 1 | a0001c0001t0001g0046 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.386+22540A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45230045 | ||||||
| chr13:45230054
|
A | G | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.386+22549A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45230054 | ||||||
| chr13:45230105
|
A | G | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.386+22600A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45230105 | ||||||
| chr13:45230147
|
C | T | 1 | a0001c0001t0001g0019 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.386+22642C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45230147 | ||||||
| chr13:45230148
|
G | A | 8 | a0001c0002t0001g0107a0001c0002t0001g0113a0001c0002t0001g0195others(5): Show | 8 | HG00673.hp2 HG01261.hp2 HG01361.hp2 others(5): Show |
intron_variant | MODIFIER | c.386+22643G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45230148 | ||||||
| chr13:45230155
|
A | G | 27 | a0001c0002t0001g0003a0001c0002t0001g0104a0001c0002t0001g0134others(24): Show | 27 | HG00609.hp1 HG00673.hp1 HG01106.hp1 others(24): Show |
intron_variant | MODIFIER | c.386+22650A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45230155 | ||||||
| chr13:45230178
|
T | C | 3 | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0001g0048 | 3 | HG01109.hp1 HG02451.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.386+22673T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45230178 | ||||||
| chr13:45230220
|
T | TA | 7 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(4): Show | 7 | HG01496.hp1 HG02280.hp1 HG02698.hp2 others(4): Show |
intron_variant | MODIFIER | c.387-22639dupA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45230220 | |||||
| chr13:45230460
|
A | T | 1 | a0001c0002t0001g0111 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.387-22411A>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45230460 | ||||||
| chr13:45230942
|
G | A | 1 | a0001c0002t0001g0148 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.387-21929G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45230942 | ||||||
| chr13:45231035
|
A | G | 1 | a0001c0001t0001g0017 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.387-21836A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45231035 | ||||||
| chr13:45231120
|
A | T | 105 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(102): Show | 105 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(102): Show |
intron_variant | MODIFIER | c.387-21751A>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45231120 | ||||||
| chr13:45231400
|
C | T | 1 | a0001c0002t0001g0142 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.387-21471C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45231400 | ||||||
| chr13:45231611
|
G | A | 1 | a0001c0002t0001g0169 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.387-21260G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45231611 | ||||||
| chr13:45231612
|
T | A | 1 | a0001c0002t0001g0128 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.387-21259T>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45231612 | ||||||
| chr13:45231625
|
A | G | 94 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(91): Show | 94 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(91): Show |
intron_variant | MODIFIER | c.387-21246A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45231625 | ||||||
| chr13:45231743
|
A | G | 1 | a0001c0002t0001g0171 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.387-21128A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45231743 | ||||||
| chr13:45232123
|
A | G | 1 | a0001c0001t0001g0101 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.387-20748A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45232123 | ||||||
| chr13:45232151
|
A | G | 1 | a0001c0002t0001g0128 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.387-20720A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45232151 | ||||||
| chr13:45232259
|
C | T | 94 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(91): Show | 94 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(91): Show |
intron_variant | MODIFIER | c.387-20612C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45232259 | ||||||
| chr13:45232638
|
A | G | 4 | a0001c0001t0001g0084a0001c0001t0001g0087a0001c0001t0001g0102others(1): Show | 4 | HG00738.hp1 HG01099.hp2 HG01123.hp1 others(1): Show |
intron_variant | MODIFIER | c.387-20233A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45232638 | ||||||
| chr13:45232694
|
G | A | 100 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(97): Show | 100 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(97): Show |
intron_variant | MODIFIER | c.387-20177G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45232694 | ||||||
| chr13:45233009
|
C | T | 1 | a0001c0001t0001g0068 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.387-19862C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45233009 | ||||||
| chr13:45234249
|
T | C | 2 | a0001c0001t0001g0076a0001c0001t0001g0089 | 2 | HG02055.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.387-18622T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45234249 | ||||||
| chr13:45234362
|
TAC | T | 20 | a0001c0002t0001g0003a0001c0002t0001g0104a0001c0002t0001g0137others(17): Show | 20 | HG00609.hp1 HG00673.hp1 HG01106.hp1 others(17): Show |
intron_variant | MODIFIER | c.387-18507_387-1850 others(6): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45234362 | |||||
| chr13:45234561
|
G | A | 100 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(97): Show | 100 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(97): Show |
intron_variant | MODIFIER | c.387-18310G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45234561 | ||||||
| chr13:45234706
|
A | C | 67 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(64): Show | 67 | HG00280.hp2 HG00639.hp1 HG00639.hp2 others(64): Show |
intron_variant | MODIFIER | c.387-18165A>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45234706 | ||||||
| chr13:45234758
|
A | G | 105 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(102): Show | 105 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(102): Show |
intron_variant | MODIFIER | c.387-18113A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45234758 | ||||||
| chr13:45234838
|
G | A | 3 | a0001c0001t0001g0008a0001c0001t0001g0016a0001c0001t0001g0017 | 3 | NA18954.hp1 NA18962.hp1 NA18982.hp2 |
intron_variant | MODIFIER | c.387-18033G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45234838 | ||||||
| chr13:45234864
|
G | A | 67 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(64): Show | 67 | HG00280.hp2 HG00639.hp1 HG00639.hp2 others(64): Show |
intron_variant | MODIFIER | c.387-18007G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45234864 | ||||||
| chr13:45234946
|
G | A | 1 | a0001c0002t0001g0175 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.387-17925G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45234946 | ||||||
| chr13:45234994
|
A | G | 9 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(6): Show | 9 | HG01069.hp1 HG01071.hp1 HG01175.hp2 others(6): Show |
intron_variant | MODIFIER | c.387-17877A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45234994 | ||||||
| chr13:45235041
|
C | CA | 16 | a0001c0002t0001g0114a0001c0002t0001g0118a0001c0002t0001g0122others(13): Show | 16 | HG00609.hp2 HG00738.hp2 HG01074.hp2 others(13): Show |
intron_variant | MODIFIER | c.387-17800dupA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45235041 | |||||
| chr13:45235041
|
C | CAA | 5 | a0001c0001t0001g0099a0001c0001t0001g0100a0001c0002t0001g0123others(2): Show | 5 | HG01257.hp2 HG01496.hp1 HG01934.hp2 others(2): Show |
intron_variant | MODIFIER | c.387-17801_387-1780 others(6): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45235041 | |||||
| chr13:45235041
|
CA | C | 21 | a0001c0001t0001g0066a0001c0001t0002g0001a0001c0001t0002g0021others(18): Show | 21 | HG00423.hp1 HG00423.hp2 HG00673.hp1 others(18): Show |
intron_variant | MODIFIER | c.387-17800delA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45235041 | |||||
| chr13:45235041
|
CAA | C | 43 | a0001c0001t0001g0018a0001c0001t0001g0024a0001c0001t0001g0033others(40): Show | 43 | HG00280.hp1 HG00609.hp1 HG01069.hp2 others(40): Show |
intron_variant | MODIFIER | c.387-17801_387-1780 others(6): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45235041 | |||||
| chr13:45235041
|
CAAA | C | 57 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(54): Show | 57 | HG00639.hp2 HG01074.hp1 HG01175.hp2 others(54): Show |
intron_variant | MODIFIER | c.387-17802_387-1780 others(7): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45235041 | |||||
| chr13:45235041
|
CAAAA | C | 19 | a0001c0001t0001g0060a0001c0001t0001g0077a0001c0001t0001g0078others(16): Show | 19 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(16): Show |
intron_variant | MODIFIER | c.387-17803_387-1780 others(8): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45235041 | |||||
| chr13:45235069
|
A | G | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.387-17802A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45235069 | ||||||
| chr13:45235311
|
A | G | 1 | a0001c0002t0001g0163 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.387-17560A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45235311 | ||||||
| chr13:45235347
|
T | G | 67 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(64): Show | 67 | HG00280.hp2 HG00639.hp1 HG00639.hp2 others(64): Show |
intron_variant | MODIFIER | c.387-17524T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45235347 | ||||||
| chr13:45235485
|
T | G | 105 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(102): Show | 105 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(102): Show |
intron_variant | MODIFIER | c.387-17386T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45235485 | ||||||
| chr13:45235651
|
G | A | 2 | a0001c0002t0001g0114a0001c0002t0001g0190 | 2 | HG01123.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.387-17220G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45235651 | ||||||
| chr13:45235928
|
C | A | 40 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(37): Show | 40 | HG00639.hp2 HG01109.hp2 HG01243.hp1 others(37): Show |
intron_variant | MODIFIER | c.387-16943C>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45235928 | ||||||
| chr13:45236024
|
C | A | 1 | a0001c0002t0001g0113 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.387-16847C>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45236024 | ||||||
| chr13:45236165
|
T | A | 94 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(91): Show | 94 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(91): Show |
intron_variant | MODIFIER | c.387-16706T>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45236165 | ||||||
| chr13:45236372
|
A | C | 27 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(24): Show | 27 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(24): Show |
intron_variant | MODIFIER | c.387-16499A>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45236372 | ||||||
| chr13:45236481
|
C | T | 1 | a0001c0002t0001g0111 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.387-16390C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45236481 | ||||||
| chr13:45236490
|
T | TAC | 19 | a0001c0002t0001g0003a0001c0002t0001g0107a0001c0002t0001g0108others(16): Show | 19 | HG00673.hp2 HG01261.hp2 HG01361.hp2 others(16): Show |
intron_variant | MODIFIER | c.387-16343_387-1634 others(6): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45236490 | |||||
| chr13:45236490
|
T | TACAC | 8 | a0001c0001t0001g0066a0001c0001t0001g0070a0001c0001t0001g0071others(5): Show | 8 | HG01099.hp1 HG01496.hp1 HG02723.hp2 others(5): Show |
intron_variant | MODIFIER | c.387-16345_387-1634 others(8): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45236490 | |||||
| chr13:45236490
|
T | TACACAC | 4 | a0001c0001t0001g0067a0001c0001t0001g0100a0001c0001t0001g0101others(1): Show | 4 | HG02698.hp2 HG02818.hp2 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.387-16347_387-1634 others(10): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45236490 | |||||
| chr13:45236490
|
T | TACACACA others(1): Show |
2 | a0001c0001t0001g0068a0001c0001t0001g0069 | 2 | HG02630.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.387-16349_387-1634 others(12): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45236490 | |||||
| chr13:45236490
|
T | TACACACA others(3): Show |
1 | a0001c0001t0005g0210 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.387-16351_387-1634 others(14): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45236490 | |||||
| chr13:45236490
|
TAC | T | 16 | a0001c0001t0001g0058a0001c0002t0001g0110a0001c0002t0001g0118others(13): Show | 16 | HG00423.hp1 HG01257.hp1 HG01934.hp2 others(13): Show |
intron_variant | MODIFIER | c.387-16343_387-1634 others(6): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45236490 | |||||
| chr13:45236490
|
TACAC | T | 2 | a0001c0001t0001g0057a0001c0002t0001g0161 | 2 | HG02074.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.387-16345_387-1634 others(8): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45236490 | |||||
| chr13:45236490
|
TACACAC | T | 22 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(19): Show | 22 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(19): Show |
intron_variant | MODIFIER | c.387-16347_387-1634 others(10): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45236490 | |||||
| chr13:45236490
|
TACACACA others(1): Show |
T | 6 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(3): Show | 6 | HG01975.hp1 HG02647.hp1 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.387-16349_387-1634 others(12): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45236490 | |||||
| chr13:45236490
|
TACACACA others(3): Show |
T | 9 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(6): Show | 9 | HG01109.hp2 HG01361.hp1 HG02622.hp2 others(6): Show |
intron_variant | MODIFIER | c.387-16351_387-1634 others(14): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45236490 | |||||
| chr13:45236490
|
TACACACA others(5): Show |
T | 28 | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0012others(25): Show | 28 | HG00639.hp2 HG01243.hp1 HG01891.hp2 others(25): Show |
intron_variant | MODIFIER | c.387-16353_387-1634 others(16): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45236490 | |||||
| chr13:45236490
|
TACACACA others(7): Show |
T | 28 | a0001c0001t0001g0011a0001c0001t0001g0018a0001c0001t0001g0019others(25): Show | 28 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(25): Show |
intron_variant | MODIFIER | c.387-16355_387-1634 others(18): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45236490 | |||||
| chr13:45236549
|
A | G | 1 | a0001c0001t0001g0205 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.387-16322A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45236549 | ||||||
| chr13:45236636
|
A | G | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.387-16235A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45236636 | ||||||
| chr13:45236770
|
A | G | 1 | a0001c0001t0001g0092 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.387-16101A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45236770 | ||||||
| chr13:45237138
|
G | A | 94 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(91): Show | 94 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(91): Show |
intron_variant | MODIFIER | c.387-15733G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45237138 | ||||||
| chr13:45237223
|
A | G | 1 | a0001c0002t0001g0192 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.387-15648A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45237223 | ||||||
| chr13:45237820
|
T | C | 6 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(3): Show | 6 | HG01496.hp1 HG02698.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.387-15051T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45237820 | ||||||
| chr13:45237948
|
C | CTGTT | 147 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(144): Show | 147 | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(144): Show |
intron_variant | MODIFIER | c.387-14905_387-1490 others(8): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45237948 | |||||
| chr13:45237948
|
C | CTGTTTGT others(1): Show |
5 | a0001c0001t0001g0061a0001c0001t0001g0099a0001c0001t0001g0100others(2): Show | 5 | HG01496.hp1 HG02698.hp2 HG02818.hp2 others(2): Show |
intron_variant | MODIFIER | c.387-14909_387-1490 others(12): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45237948 | |||||
| chr13:45237948
|
CTGTT | C | 2 | a0001c0001t0001g0070a0001c0001t0001g0071 | 2 | HG02723.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.387-14905_387-1490 others(8): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45237948 | |||||
| chr13:45238161
|
G | T | 1 | a0001c0001t0001g0050 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.387-14710G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45238161 | ||||||
| chr13:45238320
|
A | C | 1 | a0001c0001t0001g0075 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.387-14551A>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45238320 | ||||||
| chr13:45238358
|
T | C | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.387-14513T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45238358 | ||||||
| chr13:45238395
|
A | G | 1 | a0001c0002t0001g0177 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.387-14476A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45238395 | ||||||
| chr13:45238431
|
G | A | 6 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(3): Show | 6 | HG01496.hp1 HG02698.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.387-14440G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45238431 | ||||||
| chr13:45238556
|
C | G | 2 | a0001c0001t0002g0027a0001c0001t0002g0029 | 2 | HG02280.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.387-14315C>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45238556 | ||||||
| chr13:45238649
|
GA | G | 98 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(95): Show | 98 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(95): Show |
intron_variant | MODIFIER | c.387-14210delA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45238649 | |||||
| chr13:45238719
|
C | T | 4 | a0001c0001t0001g0064a0001c0001t0001g0081a0001c0001t0001g0083others(1): Show | 4 | HG00280.hp2 HG01070.hp1 HG03654.hp1 others(1): Show |
intron_variant | MODIFIER | c.387-14152C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45238719 | ||||||
| chr13:45238743
|
G | A | 16 | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0012others(13): Show | 16 | HG00639.hp2 HG01243.hp1 HG01891.hp2 others(13): Show |
intron_variant | MODIFIER | c.387-14128G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45238743 | ||||||
| chr13:45238800
|
C | T | 28 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(25): Show | 28 | HG00558.hp2 HG01069.hp1 HG01071.hp1 others(25): Show |
intron_variant | MODIFIER | c.387-14071C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45238800 | ||||||
| chr13:45238945
|
G | GA | 99 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(96): Show | 99 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(96): Show |
intron_variant | MODIFIER | c.387-13911dupA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45238945 | |||||
| chr13:45239401
|
A | G | 2 | a0001c0001t0001g0207a0001c0001t0001g0208 | 2 | HG02647.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.387-13470A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45239401 | ||||||
| chr13:45239414
|
A | G | 2 | a0001c0001t0001g0207a0001c0001t0001g0208 | 2 | HG02647.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.387-13457A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45239414 | ||||||
| chr13:45239930
|
G | A | 1 | a0001c0002t0001g0197 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.387-12941G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45239930 | ||||||
| chr13:45239994
|
C | A | 1 | a0001c0002t0001g0119 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.387-12877C>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45239994 | ||||||
| chr13:45240101
|
A | AT | 28 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(25): Show | 28 | HG00558.hp2 HG01074.hp1 HG01074.hp2 others(25): Show |
intron_variant | MODIFIER | c.387-12744dupT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45240101 | |||||
| chr13:45240101
|
A | ATT | 5 | a0001c0001t0001g0040a0001c0001t0001g0072a0001c0001t0001g0207others(2): Show | 5 | HG01975.hp1 HG02809.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.387-12745_387-1274 others(6): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45240101 | |||||
| chr13:45240101
|
A | ATTT | 58 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(55): Show | 58 | HG00280.hp2 HG00639.hp1 HG00639.hp2 others(55): Show |
intron_variant | MODIFIER | c.387-12746_387-1274 others(7): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45240101 | |||||
| chr13:45240101
|
A | ATTTT | 14 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0019others(11): Show | 14 | HG01175.hp2 HG01243.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.387-12747_387-1274 others(8): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45240101 | |||||
| chr13:45240101
|
A | ATTTTTTT others(4): Show |
2 | a0001c0001t0001g0101a0001c0001t0001g0205 | 2 | HG02698.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.387-12754_387-1274 others(15): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45240101 | |||||
| chr13:45240101
|
A | ATTTTTTT others(5): Show |
1 | a0001c0001t0001g0071 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.387-12755_387-1274 others(16): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45240101 | |||||
| chr13:45240101
|
A | ATTTTTTT others(6): Show |
2 | a0001c0001t0001g0070a0001c0001t0001g0099 | 2 | HG01496.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.387-12756_387-1274 others(17): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45240101 | |||||
| chr13:45240975
|
C | CAA | 63 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(60): Show | 63 | HG00280.hp2 HG00639.hp1 HG00639.hp2 others(60): Show |
intron_variant | MODIFIER | c.387-11879_387-1187 others(6): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45240975 | |||||
| chr13:45241044
|
A | T | 105 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(102): Show | 105 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(102): Show |
intron_variant | MODIFIER | c.387-11827A>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45241044 | ||||||
| chr13:45241184
|
A | AAT | 18 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(15): Show | 18 | HG00280.hp1 HG00423.hp2 HG01069.hp2 others(15): Show |
intron_variant | MODIFIER | c.387-11666_387-1166 others(6): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45241184 | |||||
| chr13:45241184
|
A | AATAT | 3 | a0001c0001t0001g0100a0001c0001t0005g0210a0001c0002t0001g0204 | 3 | HG02818.hp2 HG03453.hp2 NA18970.hp2 |
intron_variant | MODIFIER | c.387-11668_387-1166 others(8): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45241184 | |||||
| chr13:45241184
|
A | AATATATA others(7): Show |
2 | a0001c0001t0001g0066a0001c0001t0001g0068 | 2 | HG02630.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.387-11678_387-1166 others(18): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45241184 | |||||
| chr13:45241184
|
A | AATATATA others(9): Show |
1 | a0001c0001t0001g0067 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.387-11680_387-1166 others(20): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45241184 | |||||
| chr13:45241184
|
A | AATATATA others(11): Show |
1 | a0001c0001t0001g0069 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.387-11682_387-1166 others(22): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45241184 | |||||
| chr13:45241184
|
A | AT | 3 | a0001c0002t0001g0106a0001c0002t0001g0187a0001c0002t0001g0200 | 3 | HG03704.hp1 HG03704.hp2 NA19003.hp2 |
intron_variant | MODIFIER | c.387-11687_387-1168 others(5): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45241184 | ||||||
| chr13:45241184
|
AAT | A | 92 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(89): Show | 92 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(89): Show |
intron_variant | MODIFIER | c.387-11666_387-1166 others(6): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45241184 | |||||
| chr13:45241360
|
A | G | 1 | a0001c0001t0001g0100 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.387-11511A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45241360 | ||||||
| chr13:45241374
|
T | C | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.387-11497T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45241374 | ||||||
| chr13:45241411
|
C | T | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.387-11460C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45241411 | ||||||
| chr13:45241445
|
A | G | 1 | a0001c0002t0001g0121 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.387-11426A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45241445 | ||||||
| chr13:45241505
|
A | G | 6 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(3): Show | 6 | HG01496.hp1 HG02698.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.387-11366A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45241505 | ||||||
| chr13:45241577
|
C | CACAT | 94 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(91): Show | 94 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(91): Show |
intron_variant | MODIFIER | c.387-11292_387-1129 others(8): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45241577 | |||||
| chr13:45241618
|
T | C | 1 | a0001c0001t0001g0085 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.387-11253T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45241618 | ||||||
| chr13:45241692
|
T | C | 2 | a0001c0001t0001g0004a0001c0001t0001g0005 | 2 | HG02622.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.387-11179T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45241692 | ||||||
| chr13:45241808
|
A | G | 2 | a0001c0001t0001g0207a0001c0001t0001g0208 | 2 | HG02647.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.387-11063A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45241808 | ||||||
| chr13:45241889
|
A | T | 25 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(22): Show | 25 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(22): Show |
intron_variant | MODIFIER | c.387-10982A>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45241889 | ||||||
| chr13:45242239
|
G | A | 3 | a0001c0002t0001g0156a0001c0002t0001g0157a0001c0002t0001g0158 | 3 | NA18957.hp1 NA18983.hp2 NA19009.hp1 |
intron_variant | MODIFIER | c.387-10632G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45242239 | ||||||
| chr13:45242256
|
C | CT | 25 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(22): Show | 25 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.387-10591dupT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45242256 | |||||
| chr13:45242256
|
CT | C | 15 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0091others(12): Show | 15 | HG00639.hp1 HG01496.hp1 HG02698.hp2 others(12): Show |
intron_variant | MODIFIER | c.387-10591delT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45242256 | |||||
| chr13:45242302
|
T | C | 1 | a0001c0002t0001g0167 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.387-10569T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45242302 | ||||||
| chr13:45242876
|
A | G | 1 | a0001c0002t0001g0183 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.387-9995A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45242876 | ||||||
| chr13:45242905
|
G | A | 1 | a0001c0002t0001g0144 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.387-9966G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45242905 | ||||||
| chr13:45243150
|
C | G | 1 | a0001c0002t0001g0149 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.387-9721C>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45243150 | ||||||
| chr13:45243157
|
C | T | 1 | a0001c0002t0001g0117 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.387-9714C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45243157 | ||||||
| chr13:45243324
|
C | T | 1 | a0001c0001t0001g0100 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.387-9547C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45243324 | ||||||
| chr13:45243581
|
C | T | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.387-9290C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45243581 | ||||||
| chr13:45243622
|
T | G | 1 | a0001c0002t0001g0111 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.387-9249T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45243622 | ||||||
| chr13:45243630
|
T | A | 71 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(68): Show | 71 | HG00280.hp2 HG00639.hp1 HG00639.hp2 others(68): Show |
intron_variant | MODIFIER | c.387-9241T>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45243630 | ||||||
| chr13:45243661
|
G | T | 67 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(64): Show | 67 | HG00280.hp2 HG00639.hp1 HG00639.hp2 others(64): Show |
intron_variant | MODIFIER | c.387-9210G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45243661 | ||||||
| chr13:45243953
|
G | A | 2 | a0001c0002t0001g0186a0001c0002t0001g0194 | 2 | HG01069.hp2 HG02273.hp1 |
intron_variant | MODIFIER | c.387-8918G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45243953 | ||||||
| chr13:45243997
|
C | T | 23 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(20): Show | 23 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.387-8874C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45243997 | ||||||
| chr13:45244086
|
G | C | 105 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(102): Show | 105 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(102): Show |
intron_variant | MODIFIER | c.387-8785G>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45244086 | ||||||
| chr13:45244531
|
C | G | 1 | a0001c0001t0002g0009 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.387-8340C>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45244531 | ||||||
| chr13:45244682
|
T | C | 1 | a0001c0002t0001g0152 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.387-8189T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45244682 | ||||||
| chr13:45244861
|
G | A | 23 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(20): Show | 23 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.387-8010G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45244861 | ||||||
| chr13:45245294
|
AT | A | 8 | a0001c0001t0001g0057a0001c0001t0001g0070a0001c0001t0001g0071others(5): Show | 8 | HG01496.hp1 HG02698.hp2 HG02723.hp2 others(5): Show |
intron_variant | MODIFIER | c.387-7565delT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45245294 | |||||
| chr13:45245548
|
G | A | 1 | a0001c0001t0002g0032 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.387-7323G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45245548 | ||||||
| chr13:45245665
|
G | GAA | 3 | a0001c0002t0001g0156a0001c0002t0001g0157a0001c0002t0001g0158 | 3 | NA18957.hp1 NA18983.hp2 NA19009.hp1 |
intron_variant | MODIFIER | c.387-7205_387-7204d others(4): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45245665 | |||||
| chr13:45245666
|
A | AAT | 5 | a0001c0001t0001g0066a0001c0002t0001g0105a0001c0002t0001g0136others(2): Show | 5 | HG03540.hp2 HG04199.hp1 NA18968.hp1 others(2): Show |
intron_variant | MODIFIER | c.387-7171_387-7170d others(4): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45245666 | |||||
| chr13:45245666
|
A | AATATAT | 2 | a0001c0002t0001g0147a0001c0002t0001g0167 | 2 | HG02135.hp1 NA19009.hp2 |
intron_variant | MODIFIER | c.387-7175_387-7170d others(8): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45245666 | |||||
| chr13:45245666
|
A | AATATATA others(5): Show |
1 | a0001c0001t0001g0068 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.387-7181_387-7170d others(14): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45245666 | |||||
| chr13:45245666
|
A | AATATATA others(13): Show |
2 | a0001c0001t0001g0067a0001c0001t0001g0069 | 2 | HG03098.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.387-7189_387-7170d others(22): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45245666 | |||||
| chr13:45245666
|
AAT | A | 18 | a0001c0001t0001g0070a0001c0001t0001g0099a0001c0001t0001g0100others(15): Show | 18 | HG00673.hp1 HG00673.hp2 HG01106.hp1 others(15): Show |
intron_variant | MODIFIER | c.387-7171_387-7170d others(4): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45245666 | |||||
| chr13:45245666
|
AATAT | A | 53 | a0001c0001t0001g0101a0001c0002t0001g0002a0001c0002t0001g0108others(50): Show | 53 | HG00609.hp1 HG01070.hp2 HG01071.hp2 others(50): Show |
intron_variant | MODIFIER | c.387-7173_387-7170d others(6): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45245666 | |||||
| chr13:45245666
|
AATATAT | A | 16 | a0001c0002t0001g0106a0001c0002t0001g0107a0001c0002t0001g0121others(13): Show | 16 | HG00280.hp1 HG00423.hp1 HG00423.hp2 others(13): Show |
intron_variant | MODIFIER | c.387-7175_387-7170d others(8): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45245666 | |||||
| chr13:45245666
|
AATATATA others(1): Show |
A | 2 | a0001c0002t0001g0111a0001c0002t0001g0192 | 2 | HG01074.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.387-7177_387-7170d others(10): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45245666 | |||||
| chr13:45245666
|
AATATATA others(9): Show |
A | 1 | a0001c0001t0005g0210 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.387-7185_387-7170d others(18): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45245666 | |||||
| chr13:45245668
|
T | A | 1 | a0001c0002t0001g0003 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.387-7203T>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45245668 | ||||||
| chr13:45245670
|
T | A | 2 | a0001c0002t0001g0104a0001c0002t0001g0171 | 2 | HG01106.hp1 NA18948.hp2 |
intron_variant | MODIFIER | c.387-7201T>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45245670 | ||||||
| chr13:45245672
|
T | A | 16 | a0001c0002t0001g0137a0001c0002t0001g0145a0001c0002t0001g0152others(13): Show | 16 | HG00609.hp1 HG02015.hp1 HG02074.hp2 others(13): Show |
intron_variant | MODIFIER | c.387-7199T>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45245672 | ||||||
| chr13:45245674
|
T | A | 4 | a0001c0002t0001g0134a0001c0002t0001g0135a0001c0002t0001g0169others(1): Show | 4 | HG03654.hp2 NA18906.hp1 NA20129.hp1 others(1): Show |
intron_variant | MODIFIER | c.387-7197T>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45245674 | ||||||
| chr13:45245676
|
TATATATA others(19): Show |
T | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.387-7189_387-7164d others(28): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45245676 | |||||
| chr13:45245678
|
TATATATA others(17): Show |
T | 23 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(20): Show | 23 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.387-7187_387-7164d others(26): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45245678 | |||||
| chr13:45245680
|
TATATATA others(21): Show |
T | 41 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(38): Show | 41 | HG00639.hp2 HG01109.hp2 HG01243.hp1 others(38): Show |
intron_variant | MODIFIER | c.387-7187_387-7160d others(30): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45245680 | |||||
| chr13:45245682
|
TATATATA others(19): Show |
T | 26 | a0001c0001t0001g0039a0001c0001t0001g0076a0001c0001t0001g0077others(23): Show | 26 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(23): Show |
intron_variant | MODIFIER | c.387-7185_387-7160d others(28): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45245682 | |||||
| chr13:45245700
|
T | C | 7 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(4): Show | 7 | HG01496.hp1 HG02698.hp2 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.387-7171T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45245700 | ||||||
| chr13:45245706
|
T | C | 23 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(20): Show | 23 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.387-7165T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45245706 | ||||||
| chr13:45245710
|
T | C | 27 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(24): Show | 27 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(24): Show |
intron_variant | MODIFIER | c.387-7161T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45245710 | ||||||
| chr13:45245765
|
T | A | 1 | a0001c0001t0001g0101 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.387-7106T>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45245765 | ||||||
| chr13:45245854
|
T | C | 11 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(8): Show | 11 | HG01496.hp1 HG02630.hp1 HG02698.hp2 others(8): Show |
intron_variant | MODIFIER | c.387-7017T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45245854 | ||||||
| chr13:45245939
|
CA | C | 6 | a0001c0001t0001g0058a0001c0001t0001g0086a0001c0001t0001g0209others(3): Show | 6 | HG00738.hp1 HG01070.hp2 HG01071.hp2 others(3): Show |
intron_variant | MODIFIER | c.387-6915delA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45245939 | |||||
| chr13:45245991
|
A | ATTAT | 3 | a0001c0001t0001g0100a0001c0002t0001g0167a0001c0002t0001g0170 | 3 | HG02135.hp1 HG02717.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.387-6857_387-6854d others(6): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45245991 | |||||
| chr13:45245991
|
ATTATTTA others(5): Show |
A | 67 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(64): Show | 67 | HG00280.hp2 HG00639.hp1 HG00639.hp2 others(64): Show |
intron_variant | MODIFIER | c.387-6865_387-6854d others(14): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45245991 | |||||
| chr13:45245995
|
T | C | 1 | a0001c0002t0001g0129 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.387-6876T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45245995 | ||||||
| chr13:45246036
|
G | GT | 209 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(206): Show | 209 | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(206): Show |
intron_variant | MODIFIER | c.387-6835_387-6834i others(3): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45246036 | ||||||
| chr13:45246048
|
G | A | 67 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(64): Show | 67 | HG00280.hp2 HG00639.hp1 HG00639.hp2 others(64): Show |
intron_variant | MODIFIER | c.387-6823G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45246048 | ||||||
| chr13:45246101
|
C | T | 9 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(6): Show | 9 | HG01109.hp2 HG01361.hp1 HG02622.hp2 others(6): Show |
intron_variant | MODIFIER | c.387-6770C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45246101 | ||||||
| chr13:45246109
|
C | T | 6 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(3): Show | 6 | HG01496.hp1 HG02698.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.387-6762C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45246109 | ||||||
| chr13:45246262
|
T | C | 94 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(91): Show | 94 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(91): Show |
intron_variant | MODIFIER | c.387-6609T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45246262 | ||||||
| chr13:45246274
|
G | A | 1 | a0001c0001t0002g0032 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.387-6597G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45246274 | ||||||
| chr13:45246687
|
T | C | 94 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(91): Show | 94 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(91): Show |
intron_variant | MODIFIER | c.387-6184T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45246687 | ||||||
| chr13:45246805
|
A | G | 5 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(2): Show | 5 | HG02630.hp1 HG03098.hp2 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.387-6066A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45246805 | ||||||
| chr13:45246813
|
G | A | 1 | a0001c0002t0001g0176 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.387-6058G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45246813 | ||||||
| chr13:45246853
|
C | T | 1 | a0001c0002t0001g0198 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.387-6018C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45246853 | ||||||
| chr13:45246911
|
G | A | 1 | a0001c0002t0001g0116 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.387-5960G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45246911 | ||||||
| chr13:45247148
|
G | A | 1 | a0001c0001t0001g0100 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.387-5723G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45247148 | ||||||
| chr13:45247456
|
G | A | 6 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(3): Show | 6 | HG01496.hp1 HG02698.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.387-5415G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45247456 | ||||||
| chr13:45247554
|
A | G | 104 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(101): Show | 104 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(101): Show |
intron_variant | MODIFIER | c.387-5317A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45247554 | ||||||
| chr13:45247763
|
G | A | 100 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(97): Show | 100 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(97): Show |
intron_variant | MODIFIER | c.387-5108G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45247763 | ||||||
| chr13:45247826
|
TTTG | T | 6 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(3): Show | 6 | HG01496.hp1 HG02698.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.387-5030_387-5028d others(5): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45247826 | |||||
| chr13:45247843
|
TTGTC | T | 27 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(24): Show | 27 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(24): Show |
intron_variant | MODIFIER | c.387-5024_387-5021d others(6): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45247843 | |||||
| chr13:45247949
|
A | G | 1 | a0001c0001t0001g0089 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.387-4922A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45247949 | ||||||
| chr13:45248007
|
G | T | 23 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(20): Show | 23 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.387-4864G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45248007 | ||||||
| chr13:45248069
|
T | C | 2 | a0001c0001t0001g0070a0001c0001t0001g0071 | 2 | HG02723.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.387-4802T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45248069 | ||||||
| chr13:45248255
|
G | A | 1 | a0001c0001t0001g0046 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.387-4616G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45248255 | ||||||
| chr13:45248871
|
A | C | 1 | a0001c0002t0001g0187 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.387-4000A>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45248871 | ||||||
| chr13:45248915
|
A | G | 27 | a0001c0002t0001g0003a0001c0002t0001g0104a0001c0002t0001g0134others(24): Show | 27 | HG00609.hp1 HG00673.hp1 HG01106.hp1 others(24): Show |
intron_variant | MODIFIER | c.387-3956A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45248915 | ||||||
| chr13:45249002
|
T | C | 3 | a0001c0001t0002g0021a0001c0001t0002g0026a0001c0001t0002g0032 | 3 | HG02922.hp2 HG03098.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.387-3869T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45249002 | ||||||
| chr13:45249124
|
G | T | 65 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(62): Show | 65 | HG00280.hp2 HG00639.hp1 HG00639.hp2 others(62): Show |
intron_variant | MODIFIER | c.387-3747G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45249124 | ||||||
| chr13:45249173
|
A | G | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.387-3698A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45249173 | ||||||
| chr13:45249208
|
C | T | 94 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(91): Show | 94 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(91): Show |
intron_variant | MODIFIER | c.387-3663C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45249208 | ||||||
| chr13:45249218
|
C | T | 94 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(91): Show | 94 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(91): Show |
intron_variant | MODIFIER | c.387-3653C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45249218 | ||||||
| chr13:45249279
|
T | C | 1 | a0001c0002t0001g0172 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.387-3592T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45249279 | ||||||
| chr13:45249378
|
T | TA | 26 | a0001c0001t0001g0008a0001c0001t0001g0016a0001c0001t0001g0017others(23): Show | 26 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(23): Show |
intron_variant | MODIFIER | c.387-3493_387-3492i others(3): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45249378 | ||||||
| chr13:45249379
|
T | A | 27 | a0001c0001t0001g0008a0001c0001t0001g0016a0001c0001t0001g0017others(24): Show | 27 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(24): Show |
intron_variant | MODIFIER | c.387-3492T>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45249379 | ||||||
| chr13:45249379
|
T | TA | 75 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(72): Show | 75 | HG00280.hp2 HG00639.hp1 HG00639.hp2 others(72): Show |
intron_variant | MODIFIER | c.387-3482dupA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45249379 | |||||
| chr13:45249380
|
A | T | 20 | a0001c0002t0001g0003a0001c0002t0001g0104a0001c0002t0001g0137others(17): Show | 20 | HG00609.hp1 HG00673.hp1 HG01106.hp1 others(17): Show |
intron_variant | MODIFIER | c.387-3491A>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45249380 | ||||||
| chr13:45249745
|
T | C | 1 | a0001c0002t0001g0199 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.387-3126T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45249745 | ||||||
| chr13:45249819
|
T | TG | 15 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(12): Show | 15 | HG00280.hp1 HG00423.hp2 HG01069.hp2 others(12): Show |
intron_variant | MODIFIER | c.387-3046dupG | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45249819 | |||||
| chr13:45249881
|
C | T | 6 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(3): Show | 6 | HG01496.hp1 HG02698.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.387-2990C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45249881 | ||||||
| chr13:45250051
|
C | CT | 31 | a0001c0001t0001g0019a0001c0001t0001g0041a0001c0001t0001g0042others(28): Show | 31 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(28): Show |
intron_variant | MODIFIER | c.387-2797dupT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45250051 | |||||
| chr13:45250051
|
C | CTT | 5 | a0001c0001t0001g0046a0001c0001t0001g0100a0001c0002t0001g0110others(2): Show | 5 | HG02451.hp1 HG02818.hp2 NA18954.hp2 others(2): Show |
intron_variant | MODIFIER | c.387-2798_387-2797d others(4): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45250051 | |||||
| chr13:45250051
|
CT | C | 44 | a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0016others(41): Show | 44 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(41): Show |
intron_variant | MODIFIER | c.387-2797delT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45250051 | |||||
| chr13:45250051
|
CTT | C | 25 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0013others(22): Show | 25 | HG00639.hp2 HG01243.hp1 HG01891.hp2 others(22): Show |
intron_variant | MODIFIER | c.387-2798_387-2797d others(4): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45250051 | |||||
| chr13:45250273
|
T | C | 2 | a0001c0002t0001g0137a0001c0002t0001g0154 | 2 | NA18974.hp2 NA19005.hp2 |
intron_variant | MODIFIER | c.387-2598T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45250273 | ||||||
| chr13:45250341
|
CAGCCTGC others(13): Show |
C | 1 | a0001c0001t0001g0083 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.387-2526_387-2507d others(22): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45250341 | |||||
| chr13:45250572
|
G | A | 1 | a0001c0002t0001g0204 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.387-2299G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45250572 | ||||||
| chr13:45250675
|
G | A | 40 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(37): Show | 40 | HG00639.hp2 HG01109.hp2 HG01243.hp1 others(37): Show |
intron_variant | MODIFIER | c.387-2196G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45250675 | ||||||
| chr13:45250908
|
A | G | 1 | a0001c0001t0005g0210 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.387-1963A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45250908 | ||||||
| chr13:45251145
|
G | A | 6 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(3): Show | 6 | HG01496.hp1 HG02698.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.387-1726G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45251145 | ||||||
| chr13:45251304
|
T | A | 65 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(62): Show | 65 | HG00280.hp2 HG00639.hp1 HG00639.hp2 others(62): Show |
intron_variant | MODIFIER | c.387-1567T>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45251304 | ||||||
| chr13:45251660
|
A | G | 67 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(64): Show | 67 | HG00280.hp2 HG00639.hp1 HG00639.hp2 others(64): Show |
intron_variant | MODIFIER | c.387-1211A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45251660 | ||||||
| chr13:45251836
|
A | G | 25 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(22): Show | 25 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(22): Show |
intron_variant | MODIFIER | c.387-1035A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45251836 | ||||||
| chr13:45251845
|
A | G | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.387-1026A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45251845 | ||||||
| chr13:45251953
|
T | G | 1 | a0001c0001t0001g0010 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.387-918T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45251953 | ||||||
| chr13:45252085
|
G | A | 94 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(91): Show | 94 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(91): Show |
intron_variant | MODIFIER | c.387-786G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45252085 | ||||||
| chr13:45252281
|
T | C | 65 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(62): Show | 65 | HG00280.hp2 HG00639.hp1 HG00639.hp2 others(62): Show |
intron_variant | MODIFIER | c.387-590T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45252281 | ||||||
| chr13:45252334
|
G | A | 2 | a0001c0001t0001g0207a0001c0001t0001g0208 | 2 | HG02647.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.387-537G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45252334 | ||||||
| chr13:45252741
|
A | G | 179 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(176): Show | 179 | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(176): Show |
intron_variant | MODIFIER | c.387-130A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45252741 | ||||||
| chr13:45252773
|
A | G | 4 | a0001c0001t0002g0001a0001c0001t0002g0021a0001c0001t0002g0026others(1): Show | 4 | HG02922.hp2 HG03098.hp1 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.387-98A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | 45252773 | ||||||
| chr13:45252859
|
A | AT | 65 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(62): Show | 65 | HG00280.hp2 HG00639.hp1 HG00639.hp2 others(62): Show |
splice_region_variant&intron_variant | LOW | c.387-4dupT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | 45252859 | |||||
| chr13:45253289
|
A | G | 1 | a0001c0002t0001g0120 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.486+319A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45253289 | ||||||
| chr13:45253377
|
T | G | 1 | a0001c0002t0001g0127 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.486+407T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45253377 | ||||||
| chr13:45253452
|
G | A | 23 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(20): Show | 23 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.486+482G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45253452 | ||||||
| chr13:45253521
|
A | G | 1 | a0001c0002t0001g0142 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.486+551A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45253521 | ||||||
| chr13:45253543
|
C | T | 1 | a0001c0001t0006g0055 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.486+573C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45253543 | ||||||
| chr13:45253595
|
G | A | 100 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(97): Show | 100 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(97): Show |
intron_variant | MODIFIER | c.486+625G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45253595 | ||||||
| chr13:45253803
|
C | T | 1 | a0001c0002t0001g0196 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.486+833C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45253803 | ||||||
| chr13:45253836
|
G | C | 1 | a0001c0001t0001g0006 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.486+866G>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45253836 | ||||||
| chr13:45253930
|
G | A | 1 | a0001c0002t0001g0187 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.486+960G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45253930 | ||||||
| chr13:45253934
|
A | G | 105 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(102): Show | 105 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(102): Show |
intron_variant | MODIFIER | c.486+964A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45253934 | ||||||
| chr13:45254046
|
A | G | 1 | a0001c0001t0001g0100 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.486+1076A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45254046 | ||||||
| chr13:45254064
|
C | T | 1 | a0001c0002t0001g0117 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.486+1094C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45254064 | ||||||
| chr13:45254069
|
C | CA | 24 | a0001c0001t0001g0038a0001c0001t0001g0041a0001c0001t0001g0042others(21): Show | 24 | HG00558.hp2 HG00738.hp1 HG01074.hp1 others(21): Show |
intron_variant | MODIFIER | c.486+1116dupA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr13 | 45254069 | |||||
| chr13:45254104
|
T | C | 1 | a0001c0001t0001g0100 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.486+1134T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45254104 | ||||||
| chr13:45254156
|
C | G | 1 | a0001c0001t0001g0100 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.486+1186C>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45254156 | ||||||
| chr13:45254163
|
T | G | 1 | a0001c0001t0001g0100 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.486+1193T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45254163 | ||||||
| chr13:45254164
|
T | C | 1 | a0001c0001t0001g0100 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.486+1194T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45254164 | ||||||
| chr13:45254201
|
T | C | 2 | a0001c0002t0001g0184a0001c0002t0001g0191 | 2 | HG01175.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.486+1231T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45254201 | ||||||
| chr13:45254253
|
T | C | 11 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(8): Show | 11 | HG01496.hp1 HG02630.hp1 HG02698.hp2 others(8): Show |
intron_variant | MODIFIER | c.486+1283T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45254253 | ||||||
| chr13:45254441
|
A | C | 3 | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0001g0048 | 3 | HG01109.hp1 HG02451.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.486+1471A>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45254441 | ||||||
| chr13:45254619
|
A | G | 1 | a0001c0001t0002g0001 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.486+1649A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45254619 | ||||||
| chr13:45254667
|
T | A | 1 | a0001c0002t0001g0147 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.486+1697T>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45254667 | ||||||
| chr13:45254775
|
T | C | 94 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(91): Show | 94 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(91): Show |
intron_variant | MODIFIER | c.486+1805T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45254775 | ||||||
| chr13:45254884
|
T | C | 1 | a0001c0002t0001g0183 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.486+1914T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45254884 | ||||||
| chr13:45255016
|
A | G | 2 | a0001c0001t0001g0207a0001c0001t0001g0208 | 2 | HG02647.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.486+2046A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45255016 | ||||||
| chr13:45255114
|
C | T | 2 | a0001c0001t0001g0004a0001c0001t0001g0005 | 2 | HG02622.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.486+2144C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45255114 | ||||||
| chr13:45255166
|
C | CA | 15 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0205others(12): Show | 15 | HG00673.hp1 HG00673.hp2 HG01192.hp1 others(12): Show |
intron_variant | MODIFIER | c.486+2220dupA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr13 | 45255166 | |||||
| chr13:45255166
|
CA | C | 6 | a0001c0001t0001g0054a0001c0002t0001g0104a0001c0002t0001g0147others(3): Show | 6 | HG01069.hp2 HG02615.hp1 NA18948.hp1 others(3): Show |
intron_variant | MODIFIER | c.486+2220delA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr13 | 45255166 | |||||
| chr13:45255166
|
CAA | C | 25 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(22): Show | 25 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.486+2219_486+2220d others(4): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr13 | 45255166 | |||||
| chr13:45255166
|
CAAA | C | 6 | a0001c0001t0001g0008a0001c0001t0001g0016a0001c0001t0001g0017others(3): Show | 6 | HG00639.hp1 HG02976.hp1 NA18954.hp1 others(3): Show |
intron_variant | MODIFIER | c.486+2218_486+2220d others(5): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr13 | 45255166 | |||||
| chr13:45255166
|
CAAAA | C | 61 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0010others(58): Show | 61 | HG00280.hp2 HG00639.hp2 HG00738.hp1 others(58): Show |
intron_variant | MODIFIER | c.486+2217_486+2220d others(6): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr13 | 45255166 | |||||
| chr13:45255681
|
A | G | 6 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(3): Show | 6 | HG01496.hp1 HG02698.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.486+2711A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45255681 | ||||||
| chr13:45256051
|
A | C | 23 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(20): Show | 23 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.486+3081A>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45256051 | ||||||
| chr13:45256155
|
C | T | 105 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(102): Show | 105 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(102): Show |
intron_variant | MODIFIER | c.486+3185C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45256155 | ||||||
| chr13:45256288
|
T | A | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.486+3318T>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45256288 | ||||||
| chr13:45256716
|
T | A | 40 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(37): Show | 40 | HG00639.hp2 HG01109.hp2 HG01243.hp1 others(37): Show |
intron_variant | MODIFIER | c.486+3746T>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45256716 | ||||||
| chr13:45257350
|
T | C | 1 | a0001c0001t0001g0073 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.486+4380T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45257350 | ||||||
| chr13:45257522
|
A | G | 1 | a0001c0001t0001g0063 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.486+4552A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45257522 | ||||||
| chr13:45257527
|
T | G | 105 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(102): Show | 105 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(102): Show |
intron_variant | MODIFIER | c.486+4557T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45257527 | ||||||
| chr13:45257648
|
C | A | 65 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(62): Show | 65 | HG00280.hp2 HG00639.hp1 HG00639.hp2 others(62): Show |
intron_variant | MODIFIER | c.486+4678C>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45257648 | ||||||
| chr13:45258108
|
G | C | 1 | a0001c0001t0004g0074 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.486+5138G>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45258108 | ||||||
| chr13:45258392
|
C | T | 1 | a0001c0001t0002g0031 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.486+5422C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45258392 | ||||||
| chr13:45258610
|
C | T | 11 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(8): Show | 11 | HG01496.hp1 HG02630.hp1 HG02698.hp2 others(8): Show |
intron_variant | MODIFIER | c.486+5640C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45258610 | ||||||
| chr13:45258731
|
T | C | 6 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(3): Show | 6 | HG01496.hp1 HG02698.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.486+5761T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45258731 | ||||||
| chr13:45258745
|
A | T | 1 | a0001c0001t0001g0043 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.486+5775A>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45258745 | ||||||
| chr13:45258785
|
A | G | 1 | a0001c0002t0001g0111 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.486+5815A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45258785 | ||||||
| chr13:45258850
|
A | G | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.486+5880A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45258850 | ||||||
| chr13:45258891
|
G | A | 1 | a0001c0001t0006g0055 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.486+5921G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45258891 | ||||||
| chr13:45259242
|
C | A | 1 | a0001c0001t0001g0087 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.486+6272C>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45259242 | ||||||
| chr13:45259265
|
A | G | 2 | a0001c0002t0001g0119a0001c0002t0001g0150 | 2 | NA18955.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.486+6295A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45259265 | ||||||
| chr13:45259430
|
A | C | 2 | a0001c0001t0001g0207a0001c0001t0001g0208 | 2 | HG02647.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.486+6460A>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45259430 | ||||||
| chr13:45259647
|
C | CT | 6 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(3): Show | 6 | HG01175.hp1 HG01261.hp1 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.486+6703dupT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr13 | 45259647 | |||||
| chr13:45259647
|
CT | C | 91 | a0001c0001t0001g0010a0001c0001t0001g0014a0001c0001t0001g0025others(88): Show | 91 | HG00280.hp1 HG00558.hp2 HG00609.hp1 others(88): Show |
intron_variant | MODIFIER | c.486+6703delT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr13 | 45259647 | |||||
| chr13:45259647
|
CTT | C | 71 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(68): Show | 71 | HG00280.hp2 HG00639.hp2 HG00738.hp1 others(68): Show |
intron_variant | MODIFIER | c.486+6702_486+6703d others(4): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr13 | 45259647 | |||||
| chr13:45259647
|
CTTT | C | 5 | a0001c0001t0001g0023a0001c0001t0001g0072a0001c0001t0001g0075others(2): Show | 5 | HG01934.hp1 HG01975.hp1 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.486+6701_486+6703d others(5): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr13 | 45259647 | |||||
| chr13:45259806
|
C | T | 4 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(1): Show | 4 | HG01496.hp1 HG02723.hp2 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.486+6836C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45259806 | ||||||
| chr13:45259833
|
A | G | 105 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(102): Show | 105 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(102): Show |
intron_variant | MODIFIER | c.486+6863A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45259833 | ||||||
| chr13:45260090
|
G | C | 1 | a0001c0001t0001g0072 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.486+7120G>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45260090 | ||||||
| chr13:45260283
|
A | G | 1 | a0001c0001t0002g0026 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.487-6950A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45260283 | ||||||
| chr13:45260407
|
A | G | 1 | a0001c0002t0001g0108 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.487-6826A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45260407 | ||||||
| chr13:45260470
|
G | A | 1 | a0001c0001t0001g0071 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.487-6763G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45260470 | ||||||
| chr13:45260923
|
C | T | 5 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(2): Show | 5 | HG02630.hp1 HG03098.hp2 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.487-6310C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45260923 | ||||||
| chr13:45261402
|
G | A | 6 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(3): Show | 6 | HG01496.hp1 HG02698.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.487-5831G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45261402 | ||||||
| chr13:45261425
|
C | CA | 19 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(16): Show | 19 | HG01496.hp1 HG01975.hp1 HG01975.hp2 others(16): Show |
intron_variant | MODIFIER | c.487-5789dupA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr13 | 45261425 | |||||
| chr13:45261425
|
C | CAA | 36 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(33): Show | 36 | HG00639.hp2 HG01109.hp2 HG01243.hp1 others(33): Show |
intron_variant | MODIFIER | c.487-5790_487-5789d others(4): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr13 | 45261425 | |||||
| chr13:45261425
|
C | CAAA | 6 | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0015others(3): Show | 6 | HG01891.hp2 HG02055.hp2 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.487-5791_487-5789d others(5): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr13 | 45261425 | |||||
| chr13:45261425
|
C | CAAAA | 22 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(19): Show | 22 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(19): Show |
intron_variant | MODIFIER | c.487-5792_487-5789d others(6): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr13 | 45261425 | |||||
| chr13:45261443
|
A | AAC | 23 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(20): Show | 23 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(20): Show |
intron_variant | MODIFIER | c.487-5789_487-5788i others(4): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr13 | 45261443 | |||||
| chr13:45261648
|
G | T | 94 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(91): Show | 94 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(91): Show |
intron_variant | MODIFIER | c.487-5585G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45261648 | ||||||
| chr13:45261664
|
A | G | 23 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(20): Show | 23 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.487-5569A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45261664 | ||||||
| chr13:45261676
|
TCTGACTG others(283): Show |
T | 1 | a0001c0002t0001g0200 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.487-5555_487-5266d others(2): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr13 | 45261676 | |||||
| chr13:45261885
|
A | G | 1 | a0001c0002t0001g0202 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.487-5348A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45261885 | ||||||
| chr13:45262314
|
C | T | 1 | a0001c0001t0001g0098 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.487-4919C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45262314 | ||||||
| chr13:45262578
|
C | T | 1 | a0001c0001t0001g0049 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.487-4655C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45262578 | ||||||
| chr13:45262638
|
C | T | 105 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(102): Show | 105 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(102): Show |
intron_variant | MODIFIER | c.487-4595C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45262638 | ||||||
| chr13:45263065
|
G | A | 94 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(91): Show | 94 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(91): Show |
intron_variant | MODIFIER | c.487-4168G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45263065 | ||||||
| chr13:45263112
|
TTTTAAAT others(3): Show |
T | 4 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | HG01975.hp1 HG02647.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.487-4109_487-4100d others(12): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr13 | 45263112 | |||||
| chr13:45263187
|
T | C | 1 | a0001c0002t0001g0153 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.487-4046T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45263187 | ||||||
| chr13:45263250
|
C | T | 1 | a0001c0001t0001g0087 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.487-3983C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45263250 | ||||||
| chr13:45263251
|
G | A | 1 | a0001c0002t0001g0112 | 1 | NA18957.hp2 | intron_variant | MODIFIER | c.487-3982G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45263251 | ||||||
| chr13:45263464
|
G | A | 2 | a0001c0001t0001g0072a0001c0001t0001g0073 | 2 | HG01975.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.487-3769G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45263464 | ||||||
| chr13:45263480
|
G | A | 6 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(3): Show | 6 | HG01496.hp1 HG02698.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.487-3753G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45263480 | ||||||
| chr13:45263632
|
A | G | 94 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(91): Show | 94 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(91): Show |
intron_variant | MODIFIER | c.487-3601A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45263632 | ||||||
| chr13:45264196
|
GAGAA | G | 65 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(62): Show | 65 | HG00280.hp2 HG00639.hp1 HG00639.hp2 others(62): Show |
intron_variant | MODIFIER | c.487-3034_487-3031d others(6): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr13 | 45264196 | |||||
| chr13:45264208
|
A | G | 5 | a0001c0001t0001g0081a0001c0001t0001g0082a0001c0001t0001g0083others(2): Show | 5 | HG00280.hp2 HG00639.hp1 HG01070.hp1 others(2): Show |
intron_variant | MODIFIER | c.487-3025A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45264208 | ||||||
| chr13:45264247
|
AT | A | 31 | a0001c0002t0001g0003a0001c0002t0001g0104a0001c0002t0001g0134others(28): Show | 31 | HG00609.hp1 HG00673.hp1 HG01106.hp1 others(28): Show |
intron_variant | MODIFIER | c.487-2976delT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr13 | 45264247 | |||||
| chr13:45264522
|
G | T | 1 | a0001c0002t0003g0181 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.487-2711G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45264522 | ||||||
| chr13:45264601
|
C | T | 2 | a0001c0001t0001g0045a0001c0001t0001g0053 | 2 | HG03516.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.487-2632C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45264601 | ||||||
| chr13:45264674
|
G | T | 3 | a0001c0002t0001g0147a0001c0002t0001g0151a0001c0003t0001g0131 | 3 | HG00558.hp1 NA18983.hp1 NA19009.hp2 |
intron_variant | MODIFIER | c.487-2559G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45264674 | ||||||
| chr13:45264942
|
A | G | 1 | a0001c0002t0001g0125 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.487-2291A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45264942 | ||||||
| chr13:45265018
|
T | TGGGGGGC others(282): Show |
1 | a0001c0002t0001g0200 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.487-2212_487-2211i others(291): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr13 | 45265018 | |||||
| chr13:45265022
|
A | G | 1 | a0001c0002t0001g0200 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.487-2211A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45265022 | ||||||
| chr13:45265115
|
T | C | 1 | a0001c0002t0001g0127 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.487-2118T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45265115 | ||||||
| chr13:45265258
|
C | CA | 7 | a0001c0001t0001g0068a0001c0002t0001g0124a0001c0002t0001g0195others(4): Show | 7 | HG01361.hp2 HG02135.hp2 HG02630.hp1 others(4): Show |
intron_variant | MODIFIER | c.487-1960dupA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr13 | 45265258 | |||||
| chr13:45265258
|
CA | C | 5 | a0001c0001t0001g0035a0001c0001t0001g0037a0001c0001t0001g0087others(2): Show | 5 | HG00639.hp2 HG01099.hp2 HG01934.hp2 others(2): Show |
intron_variant | MODIFIER | c.487-1960delA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr13 | 45265258 | |||||
| chr13:45265295
|
T | C | 5 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(2): Show | 5 | HG02630.hp1 HG03098.hp2 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.487-1938T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45265295 | ||||||
| chr13:45265365
|
G | A | 1 | a0001c0001t0001g0072 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.487-1868G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45265365 | ||||||
| chr13:45265611
|
T | C | 4 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(1): Show | 4 | HG02630.hp1 HG03098.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.487-1622T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45265611 | ||||||
| chr13:45265632
|
A | G | 40 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(37): Show | 40 | HG00639.hp2 HG01109.hp2 HG01243.hp1 others(37): Show |
intron_variant | MODIFIER | c.487-1601A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45265632 | ||||||
| chr13:45265906
|
C | G | 1 | a0001c0002t0001g0104 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.487-1327C>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45265906 | ||||||
| chr13:45266384
|
A | G | 2 | a0001c0001t0001g0101a0001c0001t0001g0205 | 2 | HG02698.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.487-849A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45266384 | ||||||
| chr13:45266437
|
C | T | 1 | a0001c0002t0001g0166 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.487-796C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45266437 | ||||||
| chr13:45266462
|
T | C | 2 | a0001c0001t0001g0045a0001c0001t0001g0053 | 2 | HG03516.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.487-771T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 6/7 | chr13 | 45266462 | ||||||
| chr13:45267561
|
A | C | 1 | a0001c0001t0004g0074 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.630+185A>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45267561 | ||||||
| chr13:45267810
|
A | AT | 23 | a0001c0001t0001g0042a0001c0001t0001g0043a0001c0001t0001g0044others(20): Show | 23 | HG00558.hp2 HG01109.hp1 HG01192.hp2 others(20): Show |
intron_variant | MODIFIER | c.630+454dupT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | 45267810 | |||||
| chr13:45267810
|
AT | A | 44 | a0001c0001t0001g0017a0001c0001t0001g0068a0001c0001t0001g0069others(41): Show | 44 | HG00609.hp1 HG00673.hp1 HG01106.hp1 others(41): Show |
intron_variant | MODIFIER | c.630+454delT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | 45267810 | |||||
| chr13:45267830
|
T | A | 2 | a0001c0001t0001g0004a0001c0001t0001g0005 | 2 | HG02622.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.630+454T>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45267830 | ||||||
| chr13:45267867
|
G | T | 4 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(1): Show | 4 | HG01496.hp1 HG02723.hp2 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.630+491G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45267867 | ||||||
| chr13:45267885
|
A | G | 2 | a0001c0002t0001g0105a0001c0002t0001g0177 | 2 | HG00609.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.630+509A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45267885 | ||||||
| chr13:45268125
|
C | T | 94 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(91): Show | 94 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(91): Show |
intron_variant | MODIFIER | c.630+749C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45268125 | ||||||
| chr13:45268227
|
G | T | 3 | a0001c0002t0001g0116a0001c0002t0001g0138a0001c0002t0001g0139 | 3 | HG01070.hp2 HG01071.hp2 HG03491.hp2 |
intron_variant | MODIFIER | c.630+851G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45268227 | ||||||
| chr13:45268393
|
A | G | 1 | a0001c0002t0001g0206 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.630+1017A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45268393 | ||||||
| chr13:45268602
|
T | A | 2 | a0001c0001t0001g0045a0001c0001t0001g0053 | 2 | HG03516.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.630+1226T>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45268602 | ||||||
| chr13:45268734
|
C | T | 1 | a0001c0002t0001g0136 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.630+1358C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45268734 | ||||||
| chr13:45268915
|
T | A | 5 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(2): Show | 5 | HG02630.hp1 HG03098.hp2 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.630+1539T>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45268915 | ||||||
| chr13:45269186
|
T | G | 67 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(64): Show | 67 | HG00280.hp2 HG00639.hp1 HG00639.hp2 others(64): Show |
intron_variant | MODIFIER | c.630+1810T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45269186 | ||||||
| chr13:45269511
|
G | A | 1 | a0001c0002t0001g0184 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.630+2135G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45269511 | ||||||
| chr13:45270092
|
G | A | 1 | a0001c0001t0001g0016 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.630+2716G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45270092 | ||||||
| chr13:45270113
|
A | G | 3 | a0001c0002t0001g0141a0001c0002t0001g0142a0001c0002t0001g0166 | 3 | HG02015.hp2 HG02074.hp1 NA18971.hp2 |
intron_variant | MODIFIER | c.630+2737A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45270113 | ||||||
| chr13:45270488
|
A | C | 2 | a0001c0001t0001g0076a0001c0001t0001g0089 | 2 | HG02055.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.630+3112A>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45270488 | ||||||
| chr13:45270504
|
C | T | 100 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(97): Show | 100 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(97): Show |
intron_variant | MODIFIER | c.630+3128C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45270504 | ||||||
| chr13:45270563
|
G | A | 1 | a0001c0001t0002g0007 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.630+3187G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45270563 | ||||||
| chr13:45270712
|
C | T | 4 | a0001c0002t0001g0185a0001c0002t0001g0186a0001c0002t0001g0187others(1): Show | 4 | HG00423.hp2 HG01069.hp2 HG02273.hp1 others(1): Show |
intron_variant | MODIFIER | c.630+3336C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45270712 | ||||||
| chr13:45270896
|
G | A | 4 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(1): Show | 4 | HG02630.hp1 HG03098.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.630+3520G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45270896 | ||||||
| chr13:45271015
|
G | A | 1 | a0001c0002t0001g0167 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.630+3639G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45271015 | ||||||
| chr13:45271120
|
A | G | 1 | a0001c0002t0001g0150 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.630+3744A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45271120 | ||||||
| chr13:45271223
|
G | A | 1 | a0001c0001t0001g0041 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.630+3847G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45271223 | ||||||
| chr13:45271425
|
C | T | 1 | a0001c0002t0001g0175 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.630+4049C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45271425 | ||||||
| chr13:45271485
|
C | T | 7 | a0001c0001t0001g0043a0001c0001t0001g0046a0001c0001t0001g0047others(4): Show | 7 | HG01109.hp1 HG02451.hp1 HG02895.hp2 others(4): Show |
intron_variant | MODIFIER | c.630+4109C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45271485 | ||||||
| chr13:45271645
|
G | A | 1 | a0001c0002t0001g0112 | 1 | NA18957.hp2 | intron_variant | MODIFIER | c.630+4269G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45271645 | ||||||
| chr13:45271745
|
T | C | 1 | a0001c0001t0004g0074 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.630+4369T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45271745 | ||||||
| chr13:45271757
|
G | T | 1 | a0001c0002t0001g0117 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.630+4381G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45271757 | ||||||
| chr13:45271825
|
A | G | 1 | a0001c0002t0001g0182 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.630+4449A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45271825 | ||||||
| chr13:45271859
|
C | T | 1 | a0001c0002t0001g0167 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.630+4483C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45271859 | ||||||
| chr13:45271865
|
T | C | 11 | a0001c0001t0002g0001a0001c0001t0002g0007a0001c0001t0002g0020others(8): Show | 11 | HG02055.hp2 HG02258.hp2 HG02280.hp2 others(8): Show |
intron_variant | MODIFIER | c.630+4489T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45271865 | ||||||
| chr13:45272114
|
T | A | 2 | a0001c0001t0001g0011a0001c0001t0001g0018 | 2 | HG03491.hp1 HG03688.hp1 |
intron_variant | MODIFIER | c.630+4738T>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45272114 | ||||||
| chr13:45272254
|
A | G | 5 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(2): Show | 5 | HG02630.hp1 HG03098.hp2 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.630+4878A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45272254 | ||||||
| chr13:45272424
|
T | TA | 55 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(52): Show | 55 | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(52): Show |
intron_variant | MODIFIER | c.630+5064dupA | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | 45272424 | |||||
| chr13:45272424
|
T | TAAA | 31 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(28): Show | 31 | HG00639.hp2 HG01109.hp2 HG01243.hp1 others(28): Show |
intron_variant | MODIFIER | c.630+5062_630+5064d others(5): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | 45272424 | |||||
| chr13:45272434
|
A | C | 6 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(3): Show | 6 | HG01496.hp1 HG02698.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.630+5058A>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45272434 | ||||||
| chr13:45272441
|
C | A | 7 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(4): Show | 7 | HG01975.hp1 HG02647.hp2 HG02723.hp1 others(4): Show |
intron_variant | MODIFIER | c.630+5065C>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45272441 | ||||||
| chr13:45272453
|
A | C | 1 | a0001c0002t0001g0182 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.630+5077A>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45272453 | ||||||
| chr13:45272461
|
T | C | 1 | a0001c0002t0001g0104 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.630+5085T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45272461 | ||||||
| chr13:45272471
|
A | AG | 91 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(88): Show | 91 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(88): Show |
intron_variant | MODIFIER | c.630+5096dupG | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | 45272471 | |||||
| chr13:45272772
|
C | G | 209 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(206): Show | 209 | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(206): Show |
intron_variant | MODIFIER | c.630+5396C>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45272772 | ||||||
| chr13:45272773
|
T | C | 209 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(206): Show | 209 | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(206): Show |
intron_variant | MODIFIER | c.630+5397T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45272773 | ||||||
| chr13:45272774
|
G | T | 209 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(206): Show | 209 | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(206): Show |
intron_variant | MODIFIER | c.630+5398G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45272774 | ||||||
| chr13:45272922
|
A | AT | 89 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(86): Show | 89 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(86): Show |
intron_variant | MODIFIER | c.630+5568dupT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | 45272922 | |||||
| chr13:45272922
|
A | ATT | 16 | a0001c0001t0001g0013a0001c0001t0001g0015a0001c0001t0001g0039others(13): Show | 16 | HG01109.hp1 HG01175.hp2 HG01891.hp2 others(13): Show |
intron_variant | MODIFIER | c.630+5567_630+5568d others(4): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | 45272922 | |||||
| chr13:45272988
|
G | A | 23 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(20): Show | 23 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.630+5612G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45272988 | ||||||
| chr13:45273050
|
C | T | 1 | a0001c0001t0001g0059 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.630+5674C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45273050 | ||||||
| chr13:45273071
|
G | A | 65 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(62): Show | 65 | HG00280.hp2 HG00639.hp1 HG00639.hp2 others(62): Show |
intron_variant | MODIFIER | c.630+5695G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45273071 | ||||||
| chr13:45273173
|
G | A | 23 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(20): Show | 23 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.630+5797G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45273173 | ||||||
| chr13:45273216
|
G | A | 2 | a0001c0002t0003g0133a0001c0002t0003g0181 | 2 | HG02280.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.630+5840G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45273216 | ||||||
| chr13:45273230
|
C | T | 1 | a0001c0002t0001g0199 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.630+5854C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45273230 | ||||||
| chr13:45273458
|
G | A | 1 | a0001c0002t0001g0184 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.630+6082G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45273458 | ||||||
| chr13:45273645
|
G | A | 65 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(62): Show | 65 | HG00280.hp2 HG00639.hp1 HG00639.hp2 others(62): Show |
intron_variant | MODIFIER | c.630+6269G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45273645 | ||||||
| chr13:45273654
|
A | ATTTTTTT others(7): Show |
1 | a0001c0001t0001g0208 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.630+6278_630+6279i others(16): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45273654 | ||||||
| chr13:45273654
|
A | ATTTTTTT others(8): Show |
1 | a0001c0001t0001g0096 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.630+6278_630+6279i others(17): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45273654 | ||||||
| chr13:45273655
|
A | AATTTTTT others(7): Show |
1 | a0001c0001t0001g0039 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.630+6279_630+6280i others(16): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45273655 | ||||||
| chr13:45273655
|
A | ATTTTT | 21 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(18): Show | 21 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(18): Show |
intron_variant | MODIFIER | c.630+6292_630+6296d others(7): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | 45273655 | |||||
| chr13:45273655
|
A | ATTTTTTT others(5): Show |
5 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0016others(2): Show | 5 | HG01109.hp2 HG02622.hp2 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.630+6285_630+6296d others(14): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | 45273655 | |||||
| chr13:45273655
|
A | ATTTTTTT others(6): Show |
19 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(16): Show | 19 | HG00639.hp2 HG01934.hp1 HG02451.hp2 others(16): Show |
intron_variant | MODIFIER | c.630+6284_630+6296d others(15): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | 45273655 | |||||
| chr13:45273655
|
A | ATTTTTTT others(7): Show |
27 | a0001c0001t0001g0015a0001c0001t0001g0025a0001c0001t0001g0030others(24): Show | 27 | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(24): Show |
intron_variant | MODIFIER | c.630+6283_630+6296d others(16): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | 45273655 | |||||
| chr13:45273655
|
A | ATTTTTTT others(8): Show |
15 | a0001c0001t0001g0036a0001c0001t0001g0072a0001c0001t0001g0073others(12): Show | 15 | HG01975.hp1 HG02055.hp1 HG02055.hp2 others(12): Show |
intron_variant | MODIFIER | c.630+6282_630+6296d others(17): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | 45273655 | |||||
| chr13:45273655
|
A | T | 2 | a0001c0001t0001g0096a0001c0001t0001g0208 | 2 | HG01175.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.630+6279A>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45273655 | ||||||
| chr13:45273655
|
AT | A | 10 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0099others(7): Show | 10 | HG00609.hp2 HG01496.hp1 HG02698.hp2 others(7): Show |
intron_variant | MODIFIER | c.630+6296delT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | 45273655 | |||||
| chr13:45273964
|
C | T | 10 | a0001c0001t0001g0066a0001c0002t0001g0170a0001c0002t0001g0173others(7): Show | 10 | HG00673.hp2 HG01361.hp2 HG02135.hp2 others(7): Show |
intron_variant | MODIFIER | c.630+6588C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45273964 | ||||||
| chr13:45274008
|
G | A | 1 | a0001c0002t0001g0182 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.630+6632G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45274008 | ||||||
| chr13:45274102
|
G | A | 1 | a0001c0002t0001g0110 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.630+6726G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45274102 | ||||||
| chr13:45274323
|
C | CT | 33 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(30): Show | 33 | HG00558.hp2 HG01070.hp1 HG01074.hp1 others(30): Show |
intron_variant | MODIFIER | c.630+6968dupT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | 45274323 | |||||
| chr13:45274323
|
C | CTT | 65 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(62): Show | 65 | HG00280.hp2 HG00639.hp1 HG00639.hp2 others(62): Show |
intron_variant | MODIFIER | c.630+6967_630+6968d others(4): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | 45274323 | |||||
| chr13:45274323
|
C | CTTT | 15 | a0001c0001t0001g0045a0001c0001t0001g0053a0001c0001t0001g0082others(12): Show | 15 | HG00280.hp1 HG00423.hp2 HG01069.hp2 others(12): Show |
intron_variant | MODIFIER | c.630+6966_630+6968d others(5): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | 45274323 | |||||
| chr13:45274371
|
G | A | 1 | a0001c0002t0001g0128 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.630+6995G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45274371 | ||||||
| chr13:45274431
|
A | G | 55 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(52): Show | 55 | HG00609.hp1 HG00639.hp2 HG00673.hp1 others(52): Show |
intron_variant | MODIFIER | c.630+7055A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45274431 | ||||||
| chr13:45274494
|
T | G | 1 | a0001c0002t0001g0198 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.630+7118T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45274494 | ||||||
| chr13:45274604
|
C | T | 1 | a0001c0002t0001g0183 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.630+7228C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45274604 | ||||||
| chr13:45274754
|
G | A | 1 | a0001c0001t0001g0073 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.630+7378G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45274754 | ||||||
| chr13:45274820
|
A | G | 205 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(202): Show | 205 | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(202): Show |
intron_variant | MODIFIER | c.630+7444A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45274820 | ||||||
| chr13:45275010
|
G | T | 8 | a0001c0002t0001g0107a0001c0002t0001g0113a0001c0002t0001g0195others(5): Show | 8 | HG00673.hp2 HG01261.hp2 HG01361.hp2 others(5): Show |
intron_variant | MODIFIER | c.630+7634G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45275010 | ||||||
| chr13:45275026
|
T | C | 2 | a0001c0001t0001g0004a0001c0001t0001g0005 | 2 | HG02622.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.630+7650T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45275026 | ||||||
| chr13:45275301
|
T | TTTA | 4 | a0001c0001t0001g0061a0001c0002t0001g0156a0001c0002t0001g0157others(1): Show | 4 | NA18950.hp2 NA18957.hp1 NA18983.hp2 others(1): Show |
intron_variant | MODIFIER | c.630+7946_630+7948d others(5): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | 45275301 | |||||
| chr13:45275357
|
G | C | 5 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(2): Show | 5 | HG02630.hp1 HG03098.hp2 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.630+7981G>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45275357 | ||||||
| chr13:45275391
|
G | T | 1 | a0001c0002t0001g0183 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.630+8015G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45275391 | ||||||
| chr13:45275462
|
C | T | 1 | a0001c0001t0001g0081 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.631-7980C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45275462 | ||||||
| chr13:45275669
|
A | G | 2 | a0001c0001t0001g0101a0001c0001t0001g0205 | 2 | HG02698.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.631-7773A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45275669 | ||||||
| chr13:45275857
|
A | C | 12 | a0001c0001t0002g0001a0001c0001t0002g0007a0001c0001t0002g0009others(9): Show | 12 | HG02055.hp2 HG02258.hp2 HG02280.hp2 others(9): Show |
intron_variant | MODIFIER | c.631-7585A>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45275857 | ||||||
| chr13:45275958
|
G | A | 2 | a0001c0001t0001g0011a0001c0001t0001g0018 | 2 | HG03491.hp1 HG03688.hp1 |
intron_variant | MODIFIER | c.631-7484G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45275958 | ||||||
| chr13:45276000
|
C | T | 1 | a0001c0002t0001g0193 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.631-7442C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45276000 | ||||||
| chr13:45276124
|
A | G | 2 | a0001c0002t0001g0118a0001c0002t0001g0125 | 2 | HG03834.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.631-7318A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45276124 | ||||||
| chr13:45276160
|
A | G | 1 | a0001c0002t0001g0159 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.631-7282A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45276160 | ||||||
| chr13:45276170
|
T | G | 106 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(103): Show | 106 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(103): Show |
intron_variant | MODIFIER | c.631-7272T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45276170 | ||||||
| chr13:45276304
|
T | C | 1 | a0001c0002t0001g0175 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.631-7138T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45276304 | ||||||
| chr13:45276439
|
C | CT | 106 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(103): Show | 106 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(103): Show |
intron_variant | MODIFIER | c.631-6989dupT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | 45276439 | |||||
| chr13:45276562
|
A | G | 28 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(25): Show | 28 | HG00639.hp2 HG01109.hp2 HG01243.hp1 others(25): Show |
intron_variant | MODIFIER | c.631-6880A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45276562 | ||||||
| chr13:45276812
|
C | G | 2 | a0001c0002t0001g0134a0001c0002t0001g0180 | 2 | NA18906.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.631-6630C>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45276812 | ||||||
| chr13:45276862
|
G | A | 28 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(25): Show | 28 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(25): Show |
intron_variant | MODIFIER | c.631-6580G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45276862 | ||||||
| chr13:45278403
|
C | T | 4 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(1): Show | 4 | HG02630.hp1 HG03098.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.631-5039C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45278403 | ||||||
| chr13:45278494
|
T | C | 4 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(1): Show | 4 | HG02630.hp1 HG03098.hp2 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.631-4948T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45278494 | ||||||
| chr13:45278564
|
A | G | 106 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(103): Show | 106 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(103): Show |
intron_variant | MODIFIER | c.631-4878A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45278564 | ||||||
| chr13:45278766
|
A | G | 1 | a0001c0002t0001g0178 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.631-4676A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45278766 | ||||||
| chr13:45278816
|
C | CT | 58 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(55): Show | 58 | HG00280.hp2 HG00423.hp1 HG00639.hp1 others(55): Show |
intron_variant | MODIFIER | c.631-4601dupT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | 45278816 | |||||
| chr13:45278816
|
C | CTT | 23 | a0001c0001t0001g0033a0001c0001t0001g0041a0001c0001t0001g0042others(20): Show | 23 | HG01069.hp1 HG01071.hp1 HG01074.hp1 others(20): Show |
intron_variant | MODIFIER | c.631-4602_631-4601d others(4): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | 45278816 | |||||
| chr13:45278816
|
C | CTTT | 10 | a0001c0001t0001g0049a0001c0001t0001g0056a0001c0001t0001g0058others(7): Show | 10 | HG00558.hp2 HG01175.hp2 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.631-4603_631-4601d others(5): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | 45278816 | |||||
| chr13:45278816
|
CT | C | 11 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(8): Show | 11 | HG01496.hp1 HG02280.hp1 HG02630.hp1 others(8): Show |
intron_variant | MODIFIER | c.631-4601delT | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | 45278816 | |||||
| chr13:45278828
|
T | C | 1 | a0001c0002t0001g0190 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.631-4614T>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45278828 | ||||||
| chr13:45278886
|
C | G | 92 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(89): Show | 92 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(89): Show |
intron_variant | MODIFIER | c.631-4556C>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45278886 | ||||||
| chr13:45279202
|
A | C | 15 | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0012others(12): Show | 15 | HG00639.hp2 HG01243.hp1 HG01891.hp2 others(12): Show |
intron_variant | MODIFIER | c.631-4240A>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45279202 | ||||||
| chr13:45279580
|
A | C | 2 | a0001c0002t0001g0123a0001c0002t0001g0193 | 2 | HG01257.hp2 HG01934.hp2 |
intron_variant | MODIFIER | c.631-3862A>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45279580 | ||||||
| chr13:45279698
|
C | G | 92 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(89): Show | 92 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(89): Show |
intron_variant | MODIFIER | c.631-3744C>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45279698 | ||||||
| chr13:45279798
|
G | A | 24 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(21): Show | 24 | HG00558.hp2 HG01074.hp1 HG01109.hp1 others(21): Show |
intron_variant | MODIFIER | c.631-3644G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45279798 | ||||||
| chr13:45279844
|
G | T | 1 | a0001c0001t0001g0048 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.631-3598G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45279844 | ||||||
| chr13:45279956
|
G | A | 1 | a0001c0002t0001g0152 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.631-3486G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45279956 | ||||||
| chr13:45280137
|
G | A | 5 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(2): Show | 5 | HG02630.hp1 HG03098.hp2 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.631-3305G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45280137 | ||||||
| chr13:45280399
|
C | T | 4 | a0001c0002t0001g0134a0001c0002t0001g0135a0001c0002t0001g0169others(1): Show | 4 | HG03654.hp2 NA18906.hp1 NA20129.hp1 others(1): Show |
intron_variant | MODIFIER | c.631-3043C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45280399 | ||||||
| chr13:45280447
|
A | G | 95 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(92): Show | 95 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(92): Show |
intron_variant | MODIFIER | c.631-2995A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45280447 | ||||||
| chr13:45280522
|
C | T | 1 | a0001c0002t0001g0119 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.631-2920C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45280522 | ||||||
| chr13:45280709
|
A | G | 5 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0068others(2): Show | 5 | HG02630.hp1 HG03098.hp2 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.631-2733A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45280709 | ||||||
| chr13:45280760
|
A | C | 151 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(148): Show | 151 | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(148): Show |
intron_variant | MODIFIER | c.631-2682A>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45280760 | ||||||
| chr13:45280904
|
T | G | 1 | a0001c0002t0001g0126 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.631-2538T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45280904 | ||||||
| chr13:45281157
|
G | T | 1 | a0001c0001t0001g0208 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.631-2285G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45281157 | ||||||
| chr13:45281283
|
C | T | 1 | a0001c0002t0001g0165 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.631-2159C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45281283 | ||||||
| chr13:45281481
|
A | G | 1 | a0001c0002t0001g0146 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.631-1961A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45281481 | ||||||
| chr13:45281864
|
G | T | 1 | a0001c0001t0001g0099 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.631-1578G>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45281864 | ||||||
| chr13:45281877
|
TGCAACAA others(53): Show |
T | 1 | a0001c0001t0001g0008 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.631-1564_631-1505d others(62): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45281877 | ||||||
| chr13:45281960
|
A | C | 92 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(89): Show | 92 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(89): Show |
intron_variant | MODIFIER | c.631-1482A>C | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45281960 | ||||||
| chr13:45282131
|
G | A | 204 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(201): Show | 204 | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(201): Show |
intron_variant | MODIFIER | c.631-1311G>A | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45282131 | ||||||
| chr13:45282190
|
C | T | 1 | a0001c0001t0001g0101 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.631-1252C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45282190 | ||||||
| chr13:45282879
|
C | T | 64 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(61): Show | 64 | HG00280.hp2 HG00639.hp1 HG00639.hp2 others(61): Show |
intron_variant | MODIFIER | c.631-563C>T | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45282879 | ||||||
| chr13:45282928
|
A | G | 1 | a0001c0001t0004g0074 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.631-514A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45282928 | ||||||
| chr13:45282986
|
A | G | 1 | a0001c0002t0001g0126 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.631-456A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45282986 | ||||||
| chr13:45283051
|
A | G | 7 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(4): Show | 7 | HG01975.hp1 HG01975.hp2 HG02083.hp1 others(4): Show |
intron_variant | MODIFIER | c.631-391A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45283051 | ||||||
| chr13:45283170
|
T | G | 92 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(89): Show | 92 | HG00280.hp2 HG00558.hp2 HG00639.hp1 others(89): Show |
intron_variant | MODIFIER | c.631-272T>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45283170 | ||||||
| chr13:45283244
|
A | G | 4 | a0001c0001t0001g0011a0001c0001t0001g0018a0001c0001t0001g0019others(1): Show | 4 | HG01934.hp1 HG02622.hp1 HG03491.hp1 others(1): Show |
intron_variant | MODIFIER | c.631-198A>G | GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 7/7 | chr13 | 45283244 |