Item | Value |
---|---|
geneid | 728378 |
ensemblid | ENSG00000196604.13 |
hgncid | 33905 |
symbol | POTEF |
name | POTE ankyrin domain family member F |
refseq_nuc | NM_001099771.2 |
refseq_prot | NP_001093241.1 |
ensembl_nuc | ENST00000409914.7 |
ensembl_prot | ENSP00000386786.2 |
mane_status | MANE Select |
chr | chr2 |
start | 130073535 |
end | 130129222 |
strand | - |
ver | v1.2 |
region | chr2:130073535-130129222 |
region5000 | chr2:130068535-130134222 |
regionname0 | POTEF_chr2_130073535_130129222 |
regionname5000 | POTEF_chr2_130068535_130134222 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/0 | 1075 | 53 | 11 | 9 | 24 | 2 | 7 | 13 | POTEF_chr2_130068535_130134222 | POTEF | MVVEV others(1070): Show |
chr2 | 130068535 | 130134222 |
a0002 | 0/0 | 1075 | 52 | 8 | 14 | 20 | 1 | 9 | 10 | POTEF_chr2_130068535_130134222 | POTEF | MVVEV others(1070): Show |
chr2 | 130068535 | 130134222 |
a0003 | 0/0 | 1075 | 17 | 16 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | MVVEV others(1070): Show |
chr2 | 130068535 | 130134222 |
a0004 | 0/0 | 1075 | 4 | 3 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | MVVEV others(1070): Show |
chr2 | 130068535 | 130134222 |
a0005 | 0/0 | 1075 | 4 | 4 | 0 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | MVVEV others(1070): Show |
chr2 | 130068535 | 130134222 |
a0006 | 0/0 | 1075 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | MVVEV others(1070): Show |
chr2 | 130068535 | 130134222 |
a0007 | 1/0 | 1075 | 2 | 1 | 0 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | MVVEV others(1070): Show |
chr2 | 130068535 | 130134222 |
a0008 | 0/0 | 1075 | 2 | 0 | 1 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | MVVEV others(1070): Show |
chr2 | 130068535 | 130134222 |
a0009 | 0/0 | 1075 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | MVVEV others(1070): Show |
chr2 | 130068535 | 130134222 |
a0010 | 0/0 | 1075 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | MVVEV others(1070): Show |
chr2 | 130068535 | 130134222 |
a0011 | 0/0 | 1075 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | MVVEV others(1070): Show |
chr2 | 130068535 | 130134222 |
a0012 | 0/0 | 1075 | 2 | 1 | 0 | 1 | 0 | 0 | 1 | POTEF_chr2_130068535_130134222 | POTEF | MVVEV others(1070): Show |
chr2 | 130068535 | 130134222 |
a0013 | 0/0 | 1075 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | MVVEV others(1070): Show |
chr2 | 130068535 | 130134222 |
a0014 | 0/0 | 1075 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | MVVEV others(1070): Show |
chr2 | 130068535 | 130134222 |
a0015 | 0/0 | 1075 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | MVVEV others(1070): Show |
chr2 | 130068535 | 130134222 |
a0016 | 0/0 | 1075 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | MVVEV others(1070): Show |
chr2 | 130068535 | 130134222 |
a0017 | 0/0 | 1075 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | MVVEV others(1070): Show |
chr2 | 130068535 | 130134222 |
a0018 | 0/0 | 1075 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | MVVEV others(1070): Show |
chr2 | 130068535 | 130134222 |
a0019 | 0/0 | 1075 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | MVVEV others(1070): Show |
chr2 | 130068535 | 130134222 |
a0020 | 0/0 | 1075 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | MVVEV others(1070): Show |
chr2 | 130068535 | 130134222 |
a0021 | 0/0 | 1075 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | MVVEV others(1070): Show |
chr2 | 130068535 | 130134222 |
a0022 | 0/0 | 1075 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | MVVEV others(1070): Show |
chr2 | 130068535 | 130134222 |
a0023 | 0/0 | 1075 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | MVVEV others(1070): Show |
chr2 | 130068535 | 130134222 |
a0024 | 0/0 | 1075 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | MVVEV others(1070): Show |
chr2 | 130068535 | 130134222 |
a0025 | 0/0 | 1075 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | MVVEV others(1070): Show |
chr2 | 130068535 | 130134222 |
a0026 | 0/0 | 1075 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | POTEF_chr2_130068535_130134222 | POTEF | MVVEV others(1070): Show |
chr2 | 130068535 | 130134222 |
a0027 | 0/0 | 1075 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | MVVEV others(1070): Show |
chr2 | 130068535 | 130134222 |
a0028 | 0/0 | 1075 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | POTEF_chr2_130068535_130134222 | POTEF | MVVEV others(1070): Show |
chr2 | 130068535 | 130134222 |
a0029 | 0/0 | 1075 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | MVVEV others(1070): Show |
chr2 | 130068535 | 130134222 |
a0030 | 0/0 | 1075 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | MVVEV others(1070): Show |
chr2 | 130068535 | 130134222 |
a0031 | 0/0 | 1075 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | MVVEV others(1070): Show |
chr2 | 130068535 | 130134222 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/0 | 3225 | 45 | 8 | 7 | 24 | 1 | 5 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 | ||
a0001c0009 | 0/0 | 3225 | 3 | 0 | 2 | 0 | 1 | 0 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 | ||
a0001c0031 | 0/0 | 3225 | 1 | 0 | 0 | 0 | 0 | 1 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 | ||
a0001c0032 | 0/0 | 3225 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 | ||
a0001c0033 | 0/0 | 3225 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 | ||
a0001c0035 | 0/0 | 3225 | 1 | 0 | 0 | 0 | 0 | 1 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 | ||
a0001c0045 | 0/0 | 3225 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 | ||
a0002c0002 | 0/0 | 3225 | 38 | 0 | 14 | 15 | 1 | 8 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 | ||
a0002c0003 | 0/0 | 3225 | 13 | 7 | 0 | 5 | 0 | 1 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 | ||
a0002c0027 | 0/0 | 3225 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 | ||
a0003c0004 | 0/0 | 3225 | 8 | 8 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 | ||
a0003c0005 | 0/0 | 3225 | 5 | 4 | 1 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 | ||
a0003c0006 | 0/0 | 3225 | 4 | 4 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 | ||
a0004c0007 | 0/0 | 3225 | 4 | 3 | 1 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 | ||
a0005c0012 | 0/0 | 3225 | 2 | 2 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 | ||
a0005c0038 | 0/0 | 3225 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 | ||
a0005c0043 | 0/0 | 3225 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 | ||
a0006c0008 | 0/0 | 3225 | 3 | 3 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 | ||
a0007c0024 | 1/0 | 3225 | 1 | 0 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 | ||
a0007c0026 | 0/0 | 3225 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 | ||
a0008c0015 | 0/0 | 3225 | 2 | 0 | 1 | 0 | 1 | 0 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 | ||
a0009c0013 | 0/0 | 3225 | 2 | 2 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 | ||
a0010c0010 | 0/0 | 3225 | 2 | 2 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 | ||
a0011c0011 | 0/0 | 3225 | 2 | 2 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 | ||
a0012c0040 | 0/0 | 3225 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 | ||
a0012c0041 | 0/0 | 3225 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 | ||
a0013c0014 | 0/0 | 3225 | 2 | 2 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 | ||
a0014c0030 | 0/0 | 3225 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 | ||
a0015c0022 | 0/0 | 3225 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 | ||
a0016c0019 | 0/0 | 3225 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 | ||
a0017c0029 | 0/0 | 3225 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 | ||
a0018c0021 | 0/0 | 3225 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 | ||
a0019c0034 | 0/0 | 3225 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 | ||
a0020c0018 | 0/0 | 3225 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 | ||
a0021c0039 | 0/0 | 3225 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 | ||
a0022c0042 | 0/0 | 3225 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 | ||
a0023c0016 | 0/0 | 3225 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 | ||
a0024c0028 | 0/0 | 3225 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 | ||
a0025c0025 | 0/0 | 3225 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 | ||
a0026c0023 | 0/0 | 3225 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 | ||
a0027c0037 | 0/0 | 3225 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 | ||
a0028c0036 | 0/0 | 3225 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 | ||
a0029c0044 | 0/0 | 3225 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 | ||
a0030c0017 | 0/0 | 3225 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 | ||
a0031c0020 | 0/0 | 3225 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | ATGGT others(3220): Show |
chr2 | 130068535 | 130134222 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0002 | 0/0 | 4345 | 42 | 7 | 5 | 24 | 1 | 5 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4340): Show |
chr2 | 130068535 | 130134222 |
a0001c0001t0011 | 0/0 | 4345 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4340): Show |
chr2 | 130068535 | 130134222 |
a0001c0001t0015 | 0/0 | 4345 | 1 | 0 | 1 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4340): Show |
chr2 | 130068535 | 130134222 |
a0001c0001t0016 | 0/0 | 4344 | 1 | 0 | 1 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4339): Show |
chr2 | 130068535 | 130134222 |
a0001c0009t0002 | 0/0 | 4345 | 3 | 0 | 2 | 0 | 1 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4340): Show |
chr2 | 130068535 | 130134222 |
a0001c0031t0002 | 0/0 | 4345 | 1 | 0 | 0 | 0 | 0 | 1 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4340): Show |
chr2 | 130068535 | 130134222 |
a0001c0032t0002 | 0/0 | 4345 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4340): Show |
chr2 | 130068535 | 130134222 |
a0001c0033t0002 | 0/0 | 4345 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4340): Show |
chr2 | 130068535 | 130134222 |
a0001c0035t0002 | 0/0 | 4345 | 1 | 0 | 0 | 0 | 0 | 1 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4340): Show |
chr2 | 130068535 | 130134222 |
a0001c0045t0002 | 0/0 | 4345 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4340): Show |
chr2 | 130068535 | 130134222 |
a0002c0002t0001 | 0/0 | 4337 | 34 | 0 | 12 | 15 | 0 | 7 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4332): Show |
chr2 | 130068535 | 130134222 |
a0002c0002t0010 | 0/0 | 4337 | 2 | 0 | 1 | 0 | 1 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4332): Show |
chr2 | 130068535 | 130134222 |
a0002c0002t0020 | 0/0 | 4337 | 1 | 0 | 0 | 0 | 0 | 1 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4332): Show |
chr2 | 130068535 | 130134222 |
a0002c0002t0022 | 0/0 | 4337 | 1 | 0 | 1 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4332): Show |
chr2 | 130068535 | 130134222 |
a0002c0003t0001 | 0/0 | 4337 | 9 | 7 | 0 | 1 | 0 | 1 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4332): Show |
chr2 | 130068535 | 130134222 |
a0002c0003t0009 | 0/0 | 4337 | 3 | 0 | 0 | 3 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4332): Show |
chr2 | 130068535 | 130134222 |
a0002c0003t0021 | 0/0 | 4336 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4331): Show |
chr2 | 130068535 | 130134222 |
a0002c0027t0001 | 0/0 | 4337 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4332): Show |
chr2 | 130068535 | 130134222 |
a0003c0004t0003 | 0/0 | 4345 | 8 | 8 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4340): Show |
chr2 | 130068535 | 130134222 |
a0003c0005t0003 | 0/0 | 4345 | 5 | 4 | 1 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4340): Show |
chr2 | 130068535 | 130134222 |
a0003c0006t0003 | 0/0 | 4345 | 4 | 4 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4340): Show |
chr2 | 130068535 | 130134222 |
a0004c0007t0005 | 0/0 | 4345 | 4 | 3 | 1 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4340): Show |
chr2 | 130068535 | 130134222 |
a0005c0012t0007 | 0/0 | 4337 | 2 | 2 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4332): Show |
chr2 | 130068535 | 130134222 |
a0005c0038t0007 | 0/0 | 4337 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4332): Show |
chr2 | 130068535 | 130134222 |
a0005c0043t0001 | 0/0 | 4337 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4332): Show |
chr2 | 130068535 | 130134222 |
a0006c0008t0003 | 0/0 | 4345 | 3 | 3 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4340): Show |
chr2 | 130068535 | 130134222 |
a0007c0024t0001 | 1/0 | 4337 | 1 | 0 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4332): Show |
chr2 | 130068535 | 130134222 |
a0007c0026t0001 | 0/0 | 4337 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4332): Show |
chr2 | 130068535 | 130134222 |
a0008c0015t0001 | 0/0 | 4337 | 2 | 0 | 1 | 0 | 1 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4332): Show |
chr2 | 130068535 | 130134222 |
a0009c0013t0006 | 0/0 | 4345 | 2 | 2 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4340): Show |
chr2 | 130068535 | 130134222 |
a0010c0010t0004 | 0/0 | 4345 | 2 | 2 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4340): Show |
chr2 | 130068535 | 130134222 |
a0011c0011t0004 | 0/0 | 4345 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4340): Show |
chr2 | 130068535 | 130134222 |
a0011c0011t0017 | 0/0 | 4345 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4340): Show |
chr2 | 130068535 | 130134222 |
a0012c0040t0001 | 0/0 | 4337 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4332): Show |
chr2 | 130068535 | 130134222 |
a0012c0041t0001 | 0/0 | 4337 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4332): Show |
chr2 | 130068535 | 130134222 |
a0013c0014t0006 | 0/0 | 4345 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4340): Show |
chr2 | 130068535 | 130134222 |
a0013c0014t0019 | 0/0 | 4345 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4340): Show |
chr2 | 130068535 | 130134222 |
a0014c0030t0002 | 0/0 | 4345 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4340): Show |
chr2 | 130068535 | 130134222 |
a0015c0022t0001 | 0/0 | 4337 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4332): Show |
chr2 | 130068535 | 130134222 |
a0016c0019t0003 | 0/0 | 4345 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4340): Show |
chr2 | 130068535 | 130134222 |
a0017c0029t0004 | 0/0 | 4345 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4340): Show |
chr2 | 130068535 | 130134222 |
a0018c0021t0001 | 0/0 | 4337 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4332): Show |
chr2 | 130068535 | 130134222 |
a0019c0034t0012 | 0/0 | 4345 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4340): Show |
chr2 | 130068535 | 130134222 |
a0020c0018t0008 | 0/0 | 4337 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4332): Show |
chr2 | 130068535 | 130134222 |
a0021c0039t0001 | 0/0 | 4337 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4332): Show |
chr2 | 130068535 | 130134222 |
a0022c0042t0023 | 0/0 | 4337 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GTGGG others(4332): Show |
chr2 | 130068535 | 130134222 |
a0023c0016t0008 | 0/0 | 4337 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4332): Show |
chr2 | 130068535 | 130134222 |
a0024c0028t0002 | 0/0 | 4345 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4340): Show |
chr2 | 130068535 | 130134222 |
a0025c0025t0001 | 0/0 | 4337 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4332): Show |
chr2 | 130068535 | 130134222 |
a0026c0023t0001 | 0/0 | 4337 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4332): Show |
chr2 | 130068535 | 130134222 |
a0027c0037t0004 | 0/0 | 4345 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4340): Show |
chr2 | 130068535 | 130134222 |
a0028c0036t0013 | 0/0 | 4345 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4340): Show |
chr2 | 130068535 | 130134222 |
a0029c0044t0018 | 0/0 | 4345 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4340): Show |
chr2 | 130068535 | 130134222 |
a0030c0017t0008 | 0/0 | 4337 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4332): Show |
chr2 | 130068535 | 130134222 |
a0031c0020t0014 | 0/0 | 4345 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | GCGGG others(4340): Show |
chr2 | 130068535 | 130134222 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0002g0004 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0001t0002g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0001t0002g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0001t0002g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0001t0002g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0001t0002g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0001t0002g0022 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0001t0002g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0001t0002g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0001t0002g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0001t0002g0026 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0001t0002g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0001t0002g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0001t0002g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0001t0002g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0001t0002g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0001t0002g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0001t0002g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0001t0002g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0001t0002g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0001t0002g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0001t0002g0044 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0001t0002g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0001t0002g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0001t0002g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0001t0002g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0001t0002g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0001t0002g0052 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0001t0002g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0001t0002g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0001t0002g0055 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0001t0002g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0001t0002g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0001t0002g0061 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0001t0002g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0001t0002g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0001t0002g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0001t0002g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0001t0002g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0001t0002g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0001t0002g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0001t0011g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0001t0015g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0001t0016g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0009t0002g0040 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0009t0002g0043 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0009t0002g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0031t0002g0068 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0032t0002g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0033t0002g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0035t0002g0059 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0001c0045t0002g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0002t0001g0002 | 0/0 | 3 | 0 | 1 | 2 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0002t0001g0003 | 0/0 | 3 | 0 | 2 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0002t0001g0006 | 0/0 | 2 | 0 | 1 | 0 | 0 | 1 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0002t0001g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0002t0001g0098 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0002t0001g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0002t0001g0104 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0002t0001g0105 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0002t0001g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0002t0001g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0002t0001g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0002t0001g0109 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0002t0001g0110 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0002t0001g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0002t0001g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0002t0001g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0002t0001g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0002t0001g0117 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0002t0001g0118 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0002t0001g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0002t0001g0122 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0002t0001g0124 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0002t0001g0132 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0002t0001g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0002t0001g0135 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0002t0001g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0002t0001g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0002t0001g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0002t0001g0147 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0002t0010g0123 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0002t0010g0125 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0002t0020g0094 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0002t0022g0155 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0003t0001g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0003t0001g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0003t0001g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0003t0001g0128 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0003t0001g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0003t0001g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0003t0001g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0003t0001g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0003t0001g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0003t0009g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0003t0009g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0003t0009g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0003t0021g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0002c0027t0001g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0003c0004t0003g0005 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0003c0004t0003g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0003c0004t0003g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0003c0004t0003g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0003c0004t0003g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0003c0004t0003g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0003c0004t0003g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0003c0005t0003g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0003c0005t0003g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0003c0005t0003g0087 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0003c0005t0003g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0003c0005t0003g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0003c0006t0003g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0003c0006t0003g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0003c0006t0003g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0003c0006t0003g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0004c0007t0005g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0004c0007t0005g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0004c0007t0005g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0004c0007t0005g0013 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0005c0012t0007g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0005c0012t0007g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0005c0038t0007g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0005c0043t0001g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0006c0008t0003g0001 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0007c0024t0001g0111 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0007c0026t0001g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0008c0015t0001g0100 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0008c0015t0001g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0009c0013t0006g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0009c0013t0006g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0010c0010t0004g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0010c0010t0004g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0011c0011t0004g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0011c0011t0017g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0012c0040t0001g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0012c0041t0001g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0013c0014t0006g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0013c0014t0019g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0014c0030t0002g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0015c0022t0001g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0016c0019t0003g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0017c0029t0004g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0018c0021t0001g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0019c0034t0012g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0020c0018t0008g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0021c0039t0001g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0022c0042t0023g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0023c0016t0008g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0024c0028t0002g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0025c0025t0001g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0026c0023t0001g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0027c0037t0004g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0028c0036t0013g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0029c0044t0018g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0030c0017t0008g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
a0031c0020t0014g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00099 | hp1 | a0002 | c0002 | t0010 | g0125 | EUR | GBR | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG00099 | hp2 | a0001 | c0009 | t0002 | g0040 | EUR | GBR | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG00544 | hp1 | a0002 | c0003 | t0009 | g0140 | EAS | CHS | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG00544 | hp2 | a0001 | c0001 | t0002 | g0021 | EAS | CHS | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG00597 | hp1 | a0014 | c0030 | t0002 | g0027 | EAS | CHS | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG00597 | hp2 | a0001 | c0001 | t0002 | g0009 | EAS | CHS | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG00639 | hp1 | a0002 | c0002 | t0001 | g0104 | AMR | PUR | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG00639 | hp2 | a0001 | c0009 | t0002 | g0043 | AMR | PUR | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG00673 | hp1 | a0001 | c0001 | t0002 | g0057 | EAS | CHS | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG00673 | hp2 | a0001 | c0001 | t0002 | g0054 | EAS | CHS | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG00735 | hp1 | a0002 | c0002 | t0010 | g0123 | AMR | PUR | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG00735 | hp2 | a0002 | c0002 | t0001 | g0132 | AMR | PUR | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG01074 | hp1 | a0001 | c0001 | t0002 | g0062 | AMR | PUR | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG01074 | hp2 | a0002 | c0002 | t0001 | g0003 | AMR | PUR | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG01243 | hp1 | a0003 | c0005 | t0003 | g0087 | AMR | PUR | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG01243 | hp2 | a0004 | c0007 | t0005 | g0013 | AMR | PUR | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG01258 | hp1 | a0002 | c0002 | t0022 | g0155 | AMR | CLM | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG01258 | hp2 | a0001 | c0001 | t0002 | g0007 | AMR | CLM | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG01261 | hp1 | a0008 | c0015 | t0001 | g0121 | AMR | CLM | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG01261 | hp2 | a0002 | c0002 | t0001 | g0124 | AMR | CLM | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG01346 | hp1 | a0002 | c0002 | t0001 | g0003 | AMR | CLM | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG01346 | hp2 | a0001 | c0009 | t0002 | g0058 | AMR | CLM | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG01358 | hp1 | a0002 | c0002 | t0001 | g0105 | AMR | CLM | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG01358 | hp2 | a0001 | c0001 | t0015 | g0020 | AMR | CLM | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG01515 | hp1 | a0008 | c0015 | t0001 | g0100 | EUR | IBS | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG01515 | hp2 | a0001 | c0001 | t0002 | g0026 | EUR | IBS | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG01891 | hp1 | a0003 | c0004 | t0003 | g0078 | AFR | ACB | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG01891 | hp2 | a0002 | c0003 | t0001 | g0103 | AFR | ACB | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG01943 | hp1 | a0001 | c0001 | t0002 | g0042 | AMR | PEL | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG01943 | hp2 | a0002 | c0002 | t0001 | g0002 | AMR | PEL | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG01952 | hp1 | a0002 | c0002 | t0001 | g0133 | AMR | PEL | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG01952 | hp2 | a0001 | c0001 | t0002 | g0025 | AMR | PEL | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG01978 | hp1 | a0001 | c0001 | t0016 | g0060 | AMR | PEL | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG01978 | hp2 | a0002 | c0002 | t0001 | g0135 | AMR | PEL | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG01993 | hp1 | a0002 | c0002 | t0001 | g0106 | AMR | PEL | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG01993 | hp2 | a0002 | c0002 | t0001 | g0109 | AMR | PEL | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02015 | hp1 | a0002 | c0003 | t0009 | g0139 | EAS | KHV | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02015 | hp2 | a0002 | c0002 | t0001 | g0108 | EAS | KHV | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02027 | hp1 | a0001 | c0001 | t0002 | g0053 | EAS | KHV | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02027 | hp2 | a0002 | c0003 | t0001 | g0129 | EAS | KHV | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02055 | hp1 | a0003 | c0005 | t0003 | g0089 | AFR | ACB | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02055 | hp2 | a0001 | c0001 | t0002 | g0063 | AFR | ACB | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02056 | hp1 | a0015 | c0022 | t0001 | g0134 | EAS | KHV | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02056 | hp2 | a0002 | c0002 | t0001 | g0113 | EAS | KHV | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02074 | hp1 | a0001 | c0001 | t0002 | g0029 | EAS | KHV | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02074 | hp2 | a0002 | c0002 | t0001 | g0115 | EAS | KHV | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02129 | hp1 | a0001 | c0001 | t0002 | g0056 | EAS | KHV | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02129 | hp2 | a0001 | c0001 | t0002 | g0028 | EAS | KHV | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02132 | hp1 | a0001 | c0001 | t0002 | g0031 | EAS | KHV | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02132 | hp2 | a0002 | c0002 | t0001 | g0119 | EAS | KHV | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02145 | hp1 | a0016 | c0019 | t0003 | g0084 | AFR | ACB | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02145 | hp2 | a0002 | c0003 | t0001 | g0131 | AFR | ACB | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02257 | hp1 | a0006 | c0008 | t0003 | g0001 | AFR | ACB | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02257 | hp2 | a0017 | c0029 | t0004 | g0071 | AFR | ACB | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02258 | hp1 | a0009 | c0013 | t0006 | g0091 | AFR | ACB | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02258 | hp2 | a0018 | c0021 | t0001 | g0142 | AFR | ACB | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02280 | hp1 | a0002 | c0027 | t0001 | g0102 | AFR | ACB | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02280 | hp2 | a0003 | c0004 | t0003 | g0080 | AFR | ACB | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02293 | hp1 | a0002 | c0002 | t0001 | g0006 | AMR | PEL | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02293 | hp2 | a0001 | c0001 | t0002 | g0030 | AMR | PEL | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02451 | hp1 | a0003 | c0005 | t0003 | g0086 | AFR | ACB | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02451 | hp2 | a0010 | c0010 | t0004 | g0015 | AFR | ACB | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02523 | hp1 | a0002 | c0002 | t0001 | g0116 | EAS | KHV | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02523 | hp2 | a0001 | c0001 | t0002 | g0024 | EAS | KHV | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02572 | hp1 | a0006 | c0008 | t0003 | g0001 | AFR | GWD | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02572 | hp2 | a0005 | c0038 | t0007 | g0153 | AFR | GWD | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02615 | hp1 | a0005 | c0012 | t0007 | g0152 | AFR | GWD | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02615 | hp2 | a0003 | c0006 | t0003 | g0075 | AFR | GWD | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02622 | hp1 | a0002 | c0003 | t0001 | g0141 | AFR | GWD | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02622 | hp2 | a0003 | c0006 | t0003 | g0076 | AFR | GWD | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02630 | hp1 | a0002 | c0003 | t0001 | g0126 | AFR | GWD | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02630 | hp2 | a0001 | c0001 | t0011 | g0033 | AFR | GWD | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02698 | hp1 | a0002 | c0002 | t0001 | g0122 | SAS | PJL | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02698 | hp2 | a0001 | c0001 | t0002 | g0052 | SAS | PJL | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02717 | hp1 | a0009 | c0013 | t0006 | g0092 | AFR | GWD | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02717 | hp2 | a0001 | c0001 | t0002 | g0051 | AFR | GWD | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02723 | hp1 | a0003 | c0004 | t0003 | g0005 | AFR | GWD | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02723 | hp2 | a0011 | c0011 | t0004 | g0070 | AFR | GWD | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02809 | hp1 | a0006 | c0008 | t0003 | g0001 | AFR | GWD | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02809 | hp2 | a0001 | c0045 | t0002 | g0008 | AFR | GWD | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02886 | hp1 | a0020 | c0018 | t0008 | g0150 | AFR | GWD | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02886 | hp2 | a0001 | c0001 | t0002 | g0066 | AFR | GWD | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02897 | hp1 | a0001 | c0001 | t0002 | g0050 | AFR | GWD | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02897 | hp2 | a0002 | c0003 | t0001 | g0101 | AFR | GWD | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02965 | hp1 | a0001 | c0032 | t0002 | g0032 | AFR | ESN | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02965 | hp2 | a0001 | c0001 | t0002 | g0046 | AFR | ESN | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG03098 | hp1 | a0003 | c0006 | t0003 | g0077 | AFR | MSL | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG03098 | hp2 | a0021 | c0039 | t0001 | g0148 | AFR | MSL | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG03139 | hp1 | a0010 | c0010 | t0004 | g0016 | AFR | ESN | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG03139 | hp2 | a0007 | c0026 | t0001 | g0143 | AFR | ESN | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG03195 | hp1 | a0003 | c0004 | t0003 | g0082 | AFR | ESN | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG03195 | hp2 | a0004 | c0007 | t0005 | g0010 | AFR | ESN | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG03209 | hp1 | a0003 | c0005 | t0003 | g0085 | AFR | MSL | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG03209 | hp2 | a0022 | c0042 | t0023 | g0156 | AFR | MSL | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG03225 | hp1 | a0003 | c0004 | t0003 | g0083 | AFR | MSL | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG03225 | hp2 | a0023 | c0016 | t0008 | g0151 | AFR | MSL | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG03486 | hp1 | a0011 | c0011 | t0017 | g0072 | AFR | MSL | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG03486 | hp2 | a0003 | c0005 | t0003 | g0088 | AFR | MSL | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG03492 | hp1 | a0002 | c0002 | t0020 | g0094 | SAS | PJL | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG03492 | hp2 | a0001 | c0035 | t0002 | g0059 | SAS | PJL | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG03516 | hp1 | a0002 | c0003 | t0001 | g0145 | AFR | ESN | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG03516 | hp2 | a0003 | c0004 | t0003 | g0074 | AFR | ESN | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG03540 | hp1 | a0024 | c0028 | t0002 | g0038 | AFR | GWD | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG03540 | hp2 | a0001 | c0033 | t0002 | g0036 | AFR | GWD | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG03654 | hp1 | a0001 | c0001 | t0002 | g0061 | SAS | PJL | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG03654 | hp2 | a0002 | c0002 | t0001 | g0006 | SAS | PJL | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG03710 | hp1 | a0001 | c0001 | t0002 | g0022 | SAS | PJL | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG03710 | hp2 | a0002 | c0003 | t0001 | g0128 | SAS | PJL | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG03834 | hp1 | a0002 | c0002 | t0001 | g0110 | SAS | BEB | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG03834 | hp2 | a0002 | c0002 | t0001 | g0117 | SAS | BEB | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG04115 | hp1 | a0002 | c0002 | t0001 | g0098 | SAS | STU | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG04115 | hp2 | a0001 | c0031 | t0002 | g0068 | SAS | STU | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG04184 | hp1 | a0002 | c0002 | t0001 | g0147 | SAS | BEB | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG04184 | hp2 | a0001 | c0001 | t0002 | g0055 | SAS | BEB | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG04199 | hp1 | a0002 | c0002 | t0001 | g0118 | SAS | STU | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG04199 | hp2 | a0001 | c0001 | t0002 | g0044 | SAS | STU | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
NA18522 | hp1 | a0003 | c0004 | t0003 | g0081 | AFR | YRI | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
NA18522 | hp2 | a0004 | c0007 | t0005 | g0011 | AFR | YRI | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
NA18612 | hp1 | a0002 | c0002 | t0001 | g0137 | EAS | CHB | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
NA18612 | hp2 | a0001 | c0001 | t0002 | g0037 | EAS | CHB | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
NA18747 | hp1 | a0025 | c0025 | t0001 | g0127 | EAS | CHB | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
NA18747 | hp2 | a0002 | c0002 | t0001 | g0002 | EAS | CHB | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
NA18964 | hp1 | a0026 | c0023 | t0001 | g0114 | EAS | JPT | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
NA18964 | hp2 | a0001 | c0001 | t0002 | g0035 | EAS | JPT | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
NA18975 | hp1 | a0012 | c0040 | t0001 | g0120 | EAS | JPT | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
NA18975 | hp2 | a0001 | c0001 | t0002 | g0004 | EAS | JPT | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
NA18979 | hp1 | a0002 | c0002 | t0001 | g0136 | EAS | JPT | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
NA18979 | hp2 | a0001 | c0001 | t0002 | g0048 | EAS | JPT | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
NA18980 | hp1 | a0001 | c0001 | t0002 | g0067 | EAS | JPT | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
NA18980 | hp2 | a0002 | c0002 | t0001 | g0146 | EAS | JPT | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
NA18989 | hp1 | a0002 | c0003 | t0009 | g0138 | EAS | JPT | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
NA18989 | hp2 | a0001 | c0001 | t0002 | g0017 | EAS | JPT | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
NA19004 | hp1 | a0002 | c0002 | t0001 | g0107 | EAS | JPT | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
NA19004 | hp2 | a0001 | c0001 | t0002 | g0039 | EAS | JPT | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
NA19009 | hp1 | a0001 | c0001 | t0002 | g0004 | EAS | JPT | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
NA19009 | hp2 | a0002 | c0002 | t0001 | g0095 | EAS | JPT | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
NA19030 | hp1 | a0012 | c0041 | t0001 | g0097 | AFR | LWK | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
NA19030 | hp2 | a0001 | c0001 | t0002 | g0034 | AFR | LWK | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
NA19043 | hp1 | a0027 | c0037 | t0004 | g0014 | AFR | LWK | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
NA19043 | hp2 | a0003 | c0004 | t0003 | g0005 | AFR | LWK | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
NA19056 | hp1 | a0001 | c0001 | t0002 | g0049 | EAS | JPT | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
NA19056 | hp2 | a0002 | c0002 | t0001 | g0002 | EAS | JPT | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
NA19065 | hp1 | a0002 | c0002 | t0001 | g0099 | EAS | JPT | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
NA19065 | hp2 | a0001 | c0001 | t0002 | g0041 | EAS | JPT | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
NA19070 | hp1 | a0001 | c0001 | t0002 | g0019 | EAS | JPT | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
NA19070 | hp2 | a0002 | c0002 | t0001 | g0003 | EAS | JPT | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
NA19074 | hp1 | a0028 | c0036 | t0013 | g0047 | EAS | JPT | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
NA19074 | hp2 | a0001 | c0001 | t0002 | g0069 | EAS | JPT | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
NA19082 | hp1 | a0002 | c0003 | t0021 | g0130 | EAS | JPT | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
NA19082 | hp2 | a0001 | c0001 | t0002 | g0065 | EAS | JPT | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
NA19240 | hp1 | a0013 | c0014 | t0019 | g0090 | AFR | YRI | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
NA19240 | hp2 | a0001 | c0001 | t0002 | g0064 | AFR | YRI | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02486 | hp1 | a0002 | c0003 | t0001 | g0144 | AFR | ACB | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02486 | hp2 | a0019 | c0034 | t0012 | g0045 | AFR | ACB | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02559 | hp1 | a0004 | c0007 | t0005 | g0012 | AFR | ACB | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG02559 | hp2 | a0005 | c0043 | t0001 | g0096 | AFR | ACB | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG06807 | hp1 | a0003 | c0006 | t0003 | g0079 | AFR | USA | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
HG06807 | hp2 | a0005 | c0012 | t0007 | g0154 | AFR | USA | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
NA18955 | hp1 | a0001 | c0001 | t0002 | g0023 | EAS | JPT | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
NA18955 | hp2 | a0002 | c0002 | t0001 | g0112 | EAS | JPT | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
NA20300 | hp1 | a0029 | c0044 | t0018 | g0073 | AFR | USA | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
NA20300 | hp2 | a0030 | c0017 | t0008 | g0149 | AFR | USA | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
NA21309 | hp1 | a0013 | c0014 | t0006 | g0093 | AFR | LWK | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
NA21309 | hp2 | a0031 | c0020 | t0014 | g0018 | AFR | LWK | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
homoSapiens | grch38p0 | a0007 | c0024 | t0001 | g0111 | REF | REF | POTEF_chr2_130068535_130134222 | POTEF | chr2 | 130068535 | 130134222 |
view | chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr2:130074247 | C | G | 2 | a0004 a0006 |
7 | HG01243.hp2 HG02257.hp1 HG02559.hp1 others(4): Show |
missense_variant | MODERATE | c.3225G>C | p.Leu1075Phe | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 17/17 | 3625/4337 | 3225/3228 | 1075/1075 | chr2 | 130074247 | |||
chr2:130074261 | G | A | 3 | a0009 a0013 a0029 |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
missense_variant | MODERATE | c.3211C>T | p.His1071Tyr | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 17/17 | 3611/4337 | 3211/3228 | 1071/1075 | chr2 | 130074261 | |||
chr2:130074504 | G | A | 1 | a0022 | 1 | HG03209.hp2 | missense_variant | MODERATE | c.2968C>T | p.Arg990Cys | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 17/17 | 3368/4337 | 2968/3228 | 990/1075 | chr2 | 130074504 | |||
chr2:130074527 | A | G | 1 | a0026 | 1 | NA18964.hp1 | missense_variant | MODERATE | c.2945T>C | p.Ile982Thr | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 17/17 | 3345/4337 | 2945/3228 | 982/1075 | chr2 | 130074527 | |||
chr2:130074554 | C | T | 5 | a0001 a0004 a0014 others(2): Show |
60 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(57): Show |
missense_variant | MODERATE | c.2918G>A | p.Gly973Asp | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 17/17 | 3318/4337 | 2918/3228 | 973/1075 | chr2 | 130074554 | |||
chr2:130074597 | C | T | 3 | a0003 a0006 a0016 |
21 | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(18): Show |
missense_variant | MODERATE | c.2875G>A | p.Glu959Lys | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 17/17 | 3275/4337 | 2875/3228 | 959/1075 | chr2 | 130074597 | |||
chr2:130074611 | C | T | 1 | a0016 | 1 | HG02145.hp1 | missense_variant | MODERATE | c.2861G>A | p.Arg954Gln | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 17/17 | 3261/4337 | 2861/3228 | 954/1075 | chr2 | 130074611 | |||
chr2:130074683 | A | G | 30 | a0001 a0002 a0003 others(27): Show |
163 | HG00099.hp1 HG00099.hp2 HG00544.hp1 others(160): Show |
missense_variant | MODERATE | c.2789T>C | p.Val930Ala | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 17/17 | 3189/4337 | 2789/3228 | 930/1075 | chr2 | 130074683 | |||
chr2:130074785 | T | C | 22 | a0001 a0003 a0004 others(19): Show |
102 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(99): Show |
missense_variant | MODERATE | c.2687A>G | p.His896Arg | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 17/17 | 3087/4337 | 2687/3228 | 896/1075 | chr2 | 130074785 | |||
chr2:130074791 | G | A | 1 | a0004 | 4 | HG01243.hp2 HG02559.hp1 HG03195.hp2 others(1): Show |
missense_variant | MODERATE | c.2681C>T | p.Thr894Ile | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 17/17 | 3081/4337 | 2681/3228 | 894/1075 | chr2 | 130074791 | |||
chr2:130074811 | G | T | 4 | a0010 a0011 a0017 others(1): Show |
6 | HG02257.hp2 HG02451.hp2 HG02723.hp2 others(3): Show |
missense_variant | MODERATE | c.2661C>A | p.Asp887Glu | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 17/17 | 3061/4337 | 2661/3228 | 887/1075 | chr2 | 130074811 | |||
chr2:130074871 | C | A | 5 | a0001 a0004 a0014 others(2): Show |
60 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(57): Show |
missense_variant | MODERATE | c.2601G>T | p.Glu867Asp | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 17/17 | 3001/4337 | 2601/3228 | 867/1075 | chr2 | 130074871 | |||
chr2:130075025 | C | T | 2 | a0010 a0027 |
3 | HG02451.hp2 HG03139.hp1 NA19043.hp1 |
missense_variant | MODERATE | c.2447G>A | p.Arg816His | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 17/17 | 2847/4337 | 2447/3228 | 816/1075 | chr2 | 130075025 | |||
chr2:130075065 | C | T | 1 | a0019 | 1 | HG02486.hp2 | missense_variant | MODERATE | c.2407G>A | p.Val803Ile | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 17/17 | 2807/4337 | 2407/3228 | 803/1075 | chr2 | 130075065 | |||
chr2:130075252 | C | G | 3 | a0009 a0013 a0029 |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
missense_variant | MODERATE | c.2220G>C | p.Gln740His | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 17/17 | 2620/4337 | 2220/3228 | 740/1075 | chr2 | 130075252 | |||
chr2:130075347 | C | T | 1 | a0023 | 1 | HG03225.hp2 | missense_variant | MODERATE | c.2125G>A | p.Val709Ile | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 17/17 | 2525/4337 | 2125/3228 | 709/1075 | chr2 | 130075347 | |||
chr2:130075506 | C | A | 3 | a0009 a0013 a0029 |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
missense_variant | MODERATE | c.1966G>T | p.Ala656Ser | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 17/17 | 2366/4337 | 1966/3228 | 656/1075 | chr2 | 130075506 | |||
chr2:130075518 | G | A | 1 | a0020 | 1 | HG02886.hp1 | missense_variant | MODERATE | c.1954C>T | p.Arg652Trp | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 17/17 | 2354/4337 | 1954/3228 | 652/1075 | chr2 | 130075518 | |||
chr2:130075523 | G | A | 1 | a0020 | 1 | HG02886.hp1 | missense_variant | MODERATE | c.1949C>T | p.Thr650Met | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 17/17 | 2349/4337 | 1949/3228 | 650/1075 | chr2 | 130075523 | |||
chr2:130075538 | A | G | 1 | a0020 | 1 | HG02886.hp1 | missense_variant | MODERATE | c.1934T>C | p.Leu645Ser | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 17/17 | 2334/4337 | 1934/3228 | 645/1075 | chr2 | 130075538 | |||
chr2:130075542 | T | A | 2 | a0020 a0027 |
2 | HG02886.hp1 NA19043.hp1 |
missense_variant | MODERATE | c.1930A>T | p.Ile644Phe | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 17/17 | 2330/4337 | 1930/3228 | 644/1075 | chr2 | 130075542 | |||
chr2:130075542 | T | C | 3 | a0009 a0013 a0029 |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
missense_variant | MODERATE | c.1930A>G | p.Ile644Val | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 17/17 | 2330/4337 | 1930/3228 | 644/1075 | chr2 | 130075542 | |||
chr2:130075547 | T | C | 1 | a0020 | 1 | HG02886.hp1 | missense_variant | MODERATE | c.1925A>G | p.Lys642Arg | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 17/17 | 2325/4337 | 1925/3228 | 642/1075 | chr2 | 130075547 | |||
chr2:130077192 | T | G | 1 | a0021 | 1 | HG03098.hp2 | missense_variant | MODERATE | c.1788A>C | p.Gln596His | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 16/17 | 2188/4337 | 1788/3228 | 596/1075 | chr2 | 130077192 | |||
chr2:130077197 | C | T | 3 | a0020 a0023 a0030 |
3 | HG02886.hp1 HG03225.hp2 NA20300.hp2 |
missense_variant | MODERATE | c.1783G>A | p.Glu595Lys | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 16/17 | 2183/4337 | 1783/3228 | 595/1075 | chr2 | 130077197 | |||
chr2:130085892 | T | C | 1 | a0021 | 1 | HG03098.hp2 | missense_variant | MODERATE | c.1700A>G | p.Asp567Gly | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/17 | 2100/4337 | 1700/3228 | 567/1075 | chr2 | 130085892 | |||
chr2:130085956 | T | C | 22 | a0001 a0003 a0004 others(19): Show |
102 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(99): Show |
missense_variant | MODERATE | c.1636A>G | p.Arg546Gly | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/17 | 2036/4337 | 1636/3228 | 546/1075 | chr2 | 130085956 | |||
chr2:130085986 | A | C | 3 | a0020 a0023 a0030 |
3 | HG02886.hp1 HG03225.hp2 NA20300.hp2 |
missense_variant | MODERATE | c.1606T>G | p.Phe536Val | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/17 | 2006/4337 | 1606/3228 | 536/1075 | chr2 | 130085986 | |||
chr2:130088093 | T | C | 4 | a0001 a0014 a0019 others(1): Show |
56 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(53): Show |
missense_variant | MODERATE | c.1525A>G | p.Lys509Glu | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 13/17 | 1925/4337 | 1525/3228 | 509/1075 | chr2 | 130088093 | |||
chr2:130088135 | G | C | 1 | a0029 | 1 | NA20300.hp1 | missense_variant&splice_region_variant | MODERATE | c.1483C>G | p.Gln495Glu | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 13/17 | 1883/4337 | 1483/3228 | 495/1075 | chr2 | 130088135 | |||
chr2:130093447 | T | C | 2 | a0013 a0029 |
3 | NA19240.hp1 NA20300.hp1 NA21309.hp1 |
missense_variant | MODERATE | c.1471A>G | p.Ser491Gly | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/17 | 1871/4337 | 1471/3228 | 491/1075 | chr2 | 130093447 | |||
chr2:130093495 | G | C | 5 | a0001 a0009 a0014 others(2): Show |
58 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(55): Show |
missense_variant | MODERATE | c.1423C>G | p.Leu475Val | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/17 | 1823/4337 | 1423/3228 | 475/1075 | chr2 | 130093495 | |||
chr2:130099547 | A | C | 1 | a0014 | 1 | HG00597.hp1 | missense_variant | MODERATE | c.1332T>G | p.Asn444Lys | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/17 | 1732/4337 | 1332/3228 | 444/1075 | chr2 | 130099547 | |||
chr2:130099549 | T | C | 4 | a0009 a0013 a0017 others(1): Show |
6 | HG02257.hp2 HG02258.hp1 HG02717.hp1 others(3): Show |
missense_variant | MODERATE | c.1330A>G | p.Asn444Asp | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/17 | 1730/4337 | 1330/3228 | 444/1075 | chr2 | 130099549 | |||
chr2:130099578 | G | C | 4 | a0009 a0013 a0017 others(1): Show |
6 | HG02257.hp2 HG02258.hp1 HG02717.hp1 others(3): Show |
missense_variant | MODERATE | c.1301C>G | p.Thr434Ser | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/17 | 1701/4337 | 1301/3228 | 434/1075 | chr2 | 130099578 | |||
chr2:130100711 | G | C | 3 | a0009 a0013 a0029 |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
missense_variant | MODERATE | c.1207C>G | p.Gln403Glu | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 10/17 | 1607/4337 | 1207/3228 | 403/1075 | chr2 | 130100711 | |||
chr2:130110586 | C | T | 1 | a0015 | 1 | HG02056.hp1 | missense_variant | MODERATE | c.1012G>A | p.Gly338Arg | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/17 | 1412/4337 | 1012/3228 | 338/1075 | chr2 | 130110586 | |||
chr2:130115248 | A | T | 1 | a0024 | 1 | HG03540.hp1 | missense_variant | MODERATE | c.602T>A | p.Val201Asp | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 4/17 | 1002/4337 | 602/3228 | 201/1075 | chr2 | 130115248 | |||
chr2:130120011 | G | T | 18 | a0001 a0003 a0004 others(15): Show |
95 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(92): Show |
missense_variant | MODERATE | c.505C>A | p.Gln169Lys | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/17 | 905/4337 | 505/3228 | 169/1075 | chr2 | 130120011 | |||
chr2:130120179 | T | C | 24 | a0001 a0003 a0004 others(21): Show |
105 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(102): Show |
missense_variant | MODERATE | c.337A>G | p.Ser113Gly | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/17 | 737/4337 | 337/3228 | 113/1075 | chr2 | 130120179 | |||
chr2:130120275 | C | T | 3 | a0009 a0013 a0029 |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
missense_variant | MODERATE | c.241G>A | p.Gly81Ser | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/17 | 641/4337 | 241/3228 | 81/1075 | chr2 | 130120275 | |||
chr2:130120319 | C | T | 4 | a0003 a0006 a0016 others(1): Show |
22 | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(19): Show |
missense_variant | MODERATE | c.197G>A | p.Arg66His | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/17 | 597/4337 | 197/3228 | 66/1075 | chr2 | 130120319 | |||
chr2:130120383 | T | C | 1 | a0008 | 2 | HG01261.hp1 HG01515.hp1 |
missense_variant | MODERATE | c.133A>G | p.Thr45Ala | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/17 | 533/4337 | 133/3228 | 45/1075 | chr2 | 130120383 | |||
chr2:130120485 | C | G | 3 | a0020 a0023 a0030 |
3 | HG02886.hp1 HG03225.hp2 NA20300.hp2 |
missense_variant | MODERATE | c.31G>C | p.Ala11Pro | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/17 | 431/4337 | 31/3228 | 11/1075 | chr2 | 130120485 |
view | chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr2:130074469 | G | A | 10 | a0001c0001 a0001c0009 a0001c0031 others(7): Show |
56 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(53): Show |
synonymous_variant | LOW | c.3003C>T | p.Gly1001Gly | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 17/17 | 3403/4337 | 3003/3228 | 1001/1075 | chr2 | 130074469 | |||
chr2:130074592 | C | T | 4 | a0001c0009 a0001c0035 a0019c0034 others(1): Show |
6 | HG00099.hp2 HG00639.hp2 HG01346.hp2 others(3): Show |
synonymous_variant | LOW | c.2880G>A | p.Ala960Ala | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 17/17 | 3280/4337 | 2880/3228 | 960/1075 | chr2 | 130074592 | |||
chr2:130074610 | C | A | 1 | a0003c0005 | 5 | HG01243.hp1 HG02055.hp1 HG02451.hp1 others(2): Show |
synonymous_variant | LOW | c.2862G>T | p.Arg954Arg | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 17/17 | 3262/4337 | 2862/3228 | 954/1075 | chr2 | 130074610 | |||
chr2:130074817 | C | G | 6 | a0003c0004 a0003c0005 a0003c0006 others(3): Show |
22 | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(19): Show |
synonymous_variant | LOW | c.2655G>C | p.Leu885Leu | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 17/17 | 3055/4337 | 2655/3228 | 885/1075 | chr2 | 130074817 | |||
chr2:130074901 | G | A | 1 | a0002c0027 | 1 | HG02280.hp1 | synonymous_variant | LOW | c.2571C>T | p.Asp857Asp | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 17/17 | 2971/4337 | 2571/3228 | 857/1075 | chr2 | 130074901 | |||
chr2:130074958 | A | G | 20 | a0001c0001 a0001c0009 a0001c0031 others(17): Show |
87 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(84): Show |
synonymous_variant | LOW | c.2514T>C | p.Ala838Ala | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 17/17 | 2914/4337 | 2514/3228 | 838/1075 | chr2 | 130074958 | |||
chr2:130075354 | A | G | 7 | a0001c0009 a0012c0041 a0020c0018 others(4): Show |
9 | HG00099.hp2 HG00639.hp2 HG01346.hp2 others(6): Show |
synonymous_variant | LOW | c.2118T>C | p.Ala706Ala | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 17/17 | 2518/4337 | 2118/3228 | 706/1075 | chr2 | 130075354 | |||
chr2:130075522 | C | T | 3 | a0003c0004 a0006c0008 a0016c0019 |
12 | HG01891.hp1 HG02145.hp1 HG02257.hp1 others(9): Show |
synonymous_variant | LOW | c.1950G>A | p.Thr650Thr | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 17/17 | 2350/4337 | 1950/3228 | 650/1075 | chr2 | 130075522 | |||
chr2:130077141 | G | A | 1 | a0001c0033 | 1 | HG03540.hp2 | synonymous_variant | LOW | c.1839C>T | p.His613His | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 16/17 | 2239/4337 | 1839/3228 | 613/1075 | chr2 | 130077141 | |||
chr2:130085945 | A | G | 5 | a0001c0032 a0001c0033 a0005c0012 others(2): Show |
6 | HG02572.hp2 HG02615.hp1 HG02965.hp1 others(3): Show |
synonymous_variant | LOW | c.1647T>C | p.His549His | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/17 | 2047/4337 | 1647/3228 | 549/1075 | chr2 | 130085945 | |||
chr2:130093475 | C | T | 18 | a0001c0001 a0001c0009 a0001c0031 others(15): Show |
84 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(81): Show |
synonymous_variant | LOW | c.1443G>A | p.Lys481Lys | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/17 | 1843/4337 | 1443/3228 | 481/1075 | chr2 | 130093475 | |||
chr2:130093490 | A | C | 1 | a0001c0031 | 1 | HG04115.hp2 | synonymous_variant | LOW | c.1428T>G | p.Ser476Ser | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/17 | 1828/4337 | 1428/3228 | 476/1075 | chr2 | 130093490 | |||
chr2:130093502 | A | G | 11 | a0001c0001 a0001c0009 a0001c0031 others(8): Show |
58 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(55): Show |
synonymous_variant | LOW | c.1416T>C | p.Cys472Cys | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/17 | 1816/4337 | 1416/3228 | 472/1075 | chr2 | 130093502 | |||
chr2:130099502 | T | C | 1 | a0031c0020 | 1 | NA21309.hp2 | synonymous_variant | LOW | c.1377A>G | p.Gln459Gln | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/17 | 1777/4337 | 1377/3228 | 459/1075 | chr2 | 130099502 | |||
chr2:130110680 | T | C | 36 | a0001c0001 a0001c0009 a0001c0031 others(33): Show |
118 | HG00099.hp2 HG00544.hp1 HG00544.hp2 others(115): Show |
splice_region_variant&synonymous_variant | LOW | c.918A>G | p.Arg306Arg | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/17 | 1318/4337 | 918/3228 | 306/1075 | chr2 | 130110680 | |||
chr2:130112012 | T | C | 1 | a0017c0029 | 1 | HG02257.hp2 | synonymous_variant | LOW | c.900A>G | p.Ala300Ala | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/17 | 1300/4337 | 900/3228 | 300/1075 | chr2 | 130112012 | |||
chr2:130112036 | A | G | 31 | a0001c0001 a0001c0009 a0001c0031 others(28): Show |
101 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(98): Show |
synonymous_variant | LOW | c.876T>C | p.Ile292Ile | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/17 | 1276/4337 | 876/3228 | 292/1075 | chr2 | 130112036 | |||
chr2:130112051 | G | C | 1 | a0017c0029 | 1 | HG02257.hp2 | synonymous_variant | LOW | c.861C>G | p.Val287Val | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/17 | 1261/4337 | 861/3228 | 287/1075 | chr2 | 130112051 | |||
chr2:130112078 | A | C | 1 | a0005c0038 | 1 | HG02572.hp2 | synonymous_variant | LOW | c.834T>G | p.Leu278Leu | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/17 | 1234/4337 | 834/3228 | 278/1075 | chr2 | 130112078 | |||
chr2:130112083 | A | G | 1 | a0017c0029 | 1 | HG02257.hp2 | synonymous_variant | LOW | c.829T>C | p.Leu277Leu | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/17 | 1229/4337 | 829/3228 | 277/1075 | chr2 | 130112083 | |||
chr2:130114908 | A | G | 3 | a0009c0013 a0013c0014 a0029c0044 |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
synonymous_variant | LOW | c.783T>C | p.Tyr261Tyr | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/17 | 1183/4337 | 783/3228 | 261/1075 | chr2 | 130114908 | |||
chr2:130120315 | G | A | 3 | a0009c0013 a0013c0014 a0029c0044 |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
synonymous_variant | LOW | c.201C>T | p.His67His | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/17 | 601/4337 | 201/3228 | 67/1075 | chr2 | 130120315 | |||
chr2:130120369 | G | A | 1 | a0029c0044 | 1 | NA20300.hp1 | synonymous_variant | LOW | c.147C>T | p.His49His | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/17 | 547/4337 | 147/3228 | 49/1075 | chr2 | 130120369 | |||
chr2:130120372 | G | A | 1 | a0001c0045 | 1 | HG02809.hp2 | synonymous_variant | LOW | c.144C>T | p.Asp48Asp | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/17 | 544/4337 | 144/3228 | 48/1075 | chr2 | 130120372 |
view | chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr2:130073541 | A | G | 2 | a0005c0012t0007 a0005c0038t0007 |
3 | HG02572.hp2 HG02615.hp1 HG06807.hp2 |
3_prime_UTR_variant | MODIFIER | c.*703T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 17/17 | 703 | chr2 | 130073541 | ||||||
chr2:130073565 | T | C | 14 | a0001c0001t0002 a0001c0001t0011 a0001c0001t0015 others(11): Show |
60 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(57): Show |
3_prime_UTR_variant | MODIFIER | c.*679A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 17/17 | 679 | chr2 | 130073565 | ||||||
chr2:130073599 | T | C | 1 | a0022c0042t0023 | 1 | HG03209.hp2 | 3_prime_UTR_variant | MODIFIER | c.*645A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 17/17 | 645 | chr2 | 130073599 | ||||||
chr2:130073677 | A | T | 13 | a0001c0001t0002 a0001c0001t0011 a0001c0001t0015 others(10): Show |
56 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(53): Show |
3_prime_UTR_variant | MODIFIER | c.*567T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 17/17 | 567 | chr2 | 130073677 | ||||||
chr2:130073711 | C | T | 1 | a0001c0001t0015 | 1 | HG01358.hp2 | 3_prime_UTR_variant | MODIFIER | c.*533G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 17/17 | 533 | chr2 | 130073711 | ||||||
chr2:130073785 | G | A | 8 | a0010c0010t0004 a0011c0011t0004 a0011c0011t0017 others(5): Show |
9 | HG02257.hp2 HG02451.hp2 HG02723.hp2 others(6): Show |
3_prime_UTR_variant | MODIFIER | c.*459C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 17/17 | 459 | chr2 | 130073785 | ||||||
chr2:130073849 | G | C | 1 | a0031c0020t0014 | 1 | NA21309.hp2 | 3_prime_UTR_variant | MODIFIER | c.*395C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 17/17 | 395 | chr2 | 130073849 | ||||||
chr2:130073936 | G | A | 14 | a0001c0001t0002 a0001c0001t0011 a0001c0001t0015 others(11): Show |
60 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(57): Show |
3_prime_UTR_variant | MODIFIER | c.*308C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 17/17 | 308 | chr2 | 130073936 | ||||||
chr2:130073953 | G | T | 1 | a0019c0034t0012 | 1 | HG02486.hp2 | 3_prime_UTR_variant | MODIFIER | c.*291C>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 17/17 | 291 | chr2 | 130073953 | ||||||
chr2:130074018 | G | T | 1 | a0001c0001t0011 | 1 | HG02630.hp2 | 3_prime_UTR_variant | MODIFIER | c.*226C>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 17/17 | 226 | chr2 | 130074018 | ||||||
chr2:130074037 | G | A | 1 | a0002c0002t0020 | 1 | HG03492.hp1 | 3_prime_UTR_variant | MODIFIER | c.*207C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 17/17 | 207 | chr2 | 130074037 | ||||||
chr2:130074098 | CG | C | 2 | a0001c0001t0016 a0002c0003t0021 |
2 | HG01978.hp1 NA19082.hp1 |
3_prime_UTR_variant | MODIFIER | c.*145delC | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 17/17 | 145 | chr2 | 130074098 | ||||||
chr2:130074201 | G | A | 1 | a0002c0002t0010 | 2 | HG00099.hp1 HG00735.hp1 |
3_prime_UTR_variant | MODIFIER | c.*43C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 17/17 | 43 | chr2 | 130074201 | ||||||
chr2:130127732 | C | A | 1 | a0029c0044t0018 | 1 | NA20300.hp1 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-117G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/17 | chr2 | 130127732 | |||||||
chr2:130127733 | G | A | 1 | a0002c0003t0009 | 3 | HG00544.hp1 HG02015.hp1 NA18989.hp1 |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-118C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/17 | chr2 | 130127733 | |||||||
chr2:130127758 | G | A | 1 | a0013c0014t0019 | 1 | NA19240.hp1 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-143C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/17 | chr2 | 130127758 | |||||||
chr2:130127795 | C | A | 5 | a0003c0004t0003 a0003c0005t0003 a0003c0006t0003 others(2): Show |
21 | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(18): Show |
5_prime_UTR_variant | MODIFIER | c.-180G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/17 | 7280 | chr2 | 130127795 | ||||||
chr2:130129119 | G | A | 3 | a0009c0013t0006 a0013c0014t0006 a0013c0014t0019 |
4 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(1): Show |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-297C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 1/17 | chr2 | 130129119 | |||||||
chr2:130129126 | C | A | 1 | a0002c0002t0022 | 1 | HG01258.hp1 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-304G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 1/17 | chr2 | 130129126 | |||||||
chr2:130129174 | A | ATGCGTCG others(1): Show |
30 | a0001c0001t0002 a0001c0001t0011 a0001c0001t0015 others(27): Show |
94 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(91): Show |
5_prime_UTR_variant | MODIFIER | c.-353_-352insCCGACG others(2): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 1/17 | 8660 | chr2 | 130129174 | ||||||
chr2:130129178 | C | T | 20 | a0001c0001t0002 a0001c0001t0011 a0001c0001t0015 others(17): Show |
67 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(64): Show |
5_prime_UTR_variant | MODIFIER | c.-356G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 1/17 | 8663 | chr2 | 130129178 | ||||||
chr2:130129221 | G | A | 1 | a0022c0042t0023 | 1 | HG03209.hp2 | 5_prime_UTR_variant | MODIFIER | c.-399C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 1/17 | 8706 | chr2 | 130129221 |
view | chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr2:130075586 | G | A | 40 | a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0006 others(37): Show |
45 | HG00099.hp1 HG00639.hp1 HG00735.hp1 others(42): Show |
intron_variant | MODIFIER | c.1900-14C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 16/16 | chr2 | 130075586 | |||||||
chr2:130075628 | T | C | 1 | a0002c0002t0001g0124 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.1900-56A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 16/16 | chr2 | 130075628 | |||||||
chr2:130075815 | G | T | 1 | a0021c0039t0001g0148 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1900-243C>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 16/16 | chr2 | 130075815 | |||||||
chr2:130075823 | A | G | 55 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(52): Show |
56 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.1900-251T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 16/16 | chr2 | 130075823 | |||||||
chr2:130075855 | A | C | 1 | a0001c0001t0002g0064 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1900-283T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 16/16 | chr2 | 130075855 | |||||||
chr2:130075881 | A | T | 1 | a0021c0039t0001g0148 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1900-309T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 16/16 | chr2 | 130075881 | |||||||
chr2:130076071 | T | G | 83 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(80): Show |
87 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(84): Show |
intron_variant | MODIFIER | c.1900-499A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 16/16 | chr2 | 130076071 | |||||||
chr2:130076151 | A | ATC | 87 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(84): Show |
91 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(88): Show |
intron_variant | MODIFIER | c.1900-580_1900-579i others(4): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 16/16 | chr2 | 130076151 | |||||||
chr2:130076198 | G | C | 2 | a0003c0005t0003g0086 a0003c0005t0003g0088 |
2 | HG02451.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1900-626C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 16/16 | chr2 | 130076198 | |||||||
chr2:130076200 | T | A | 2 | a0003c0005t0003g0086 a0003c0005t0003g0088 |
2 | HG02451.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1900-628A>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 16/16 | chr2 | 130076200 | |||||||
chr2:130076212 | A | T | 1 | a0021c0039t0001g0148 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1900-640T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 16/16 | chr2 | 130076212 | |||||||
chr2:130076214 | T | C | 1 | a0012c0041t0001g0097 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1900-642A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 16/16 | chr2 | 130076214 | |||||||
chr2:130076232 | T | C | 9 | a0010c0010t0004g0015 a0010c0010t0004g0016 a0011c0011t0004g0070 others(6): Show |
9 | HG02257.hp2 HG02451.hp2 HG02723.hp2 others(6): Show |
intron_variant | MODIFIER | c.1900-660A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 16/16 | chr2 | 130076232 | |||||||
chr2:130076249 | A | C | 1 | a0021c0039t0001g0148 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1900-677T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 16/16 | chr2 | 130076249 | |||||||
chr2:130076345 | T | C | 78 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(75): Show |
82 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.1899+736A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 16/16 | chr2 | 130076345 | |||||||
chr2:130076395 | A | G | 1 | a0010c0010t0004g0015 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1899+686T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 16/16 | chr2 | 130076395 | |||||||
chr2:130076534 | G | C | 4 | a0005c0012t0007g0152 a0005c0012t0007g0154 a0005c0038t0007g0153 others(1): Show |
4 | HG02572.hp2 HG02615.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.1899+547C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 16/16 | chr2 | 130076534 | |||||||
chr2:130076585 | C | G | 86 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(83): Show |
90 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(87): Show |
intron_variant | MODIFIER | c.1899+496G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 16/16 | chr2 | 130076585 | |||||||
chr2:130076599 | T | C | 2 | a0003c0004t0003g0082 a0016c0019t0003g0084 |
2 | HG02145.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.1899+482A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 16/16 | chr2 | 130076599 | |||||||
chr2:130076604 | T | C | 3 | a0005c0012t0007g0152 a0005c0012t0007g0154 a0005c0038t0007g0153 |
3 | HG02572.hp2 HG02615.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.1899+477A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 16/16 | chr2 | 130076604 | |||||||
chr2:130076653 | G | A | 1 | a0002c0003t0001g0126 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1899+428C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 16/16 | chr2 | 130076653 | |||||||
chr2:130076715 | A | G | 2 | a0002c0002t0001g0115 a0022c0042t0023g0156 |
2 | HG02074.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.1899+366T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 16/16 | chr2 | 130076715 | |||||||
chr2:130076722 | A | G | 4 | a0003c0006t0003g0075 a0003c0006t0003g0076 a0003c0006t0003g0077 others(1): Show |
4 | HG02615.hp2 HG02622.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.1899+359T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 16/16 | chr2 | 130076722 | |||||||
chr2:130076839 | T | C | 3 | a0005c0012t0007g0152 a0005c0012t0007g0154 a0005c0038t0007g0153 |
3 | HG02572.hp2 HG02615.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.1899+242A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 16/16 | chr2 | 130076839 | |||||||
chr2:130076938 | C | T | 1 | a0002c0002t0001g0113 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.1899+143G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 16/16 | chr2 | 130076938 | |||||||
chr2:130076943 | G | A | 1 | a0011c0011t0004g0070 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1899+138C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 16/16 | chr2 | 130076943 | |||||||
chr2:130077060 | G | C | 1 | a0012c0041t0001g0097 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1899+21C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 16/16 | chr2 | 130077060 | |||||||
chr2:130077060 | G | T | 7 | a0002c0002t0001g0147 a0002c0003t0001g0126 a0002c0003t0001g0141 others(4): Show |
8 | HG02280.hp2 HG02622.hp1 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.1899+21C>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 16/16 | chr2 | 130077060 | |||||||
chr2:130077293 | T | C | 4 | a0004c0007t0005g0010 a0004c0007t0005g0011 a0004c0007t0005g0012 others(1): Show |
4 | HG01243.hp2 HG02559.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.1779-92A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130077293 | |||||||
chr2:130077381 | C | G | 5 | a0002c0003t0001g0145 a0005c0012t0007g0152 a0005c0012t0007g0154 others(2): Show |
5 | HG02572.hp2 HG02615.hp1 HG03139.hp2 others(2): Show |
intron_variant | MODIFIER | c.1779-180G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130077381 | |||||||
chr2:130077402 | C | A | 3 | a0005c0012t0007g0152 a0005c0012t0007g0154 a0005c0038t0007g0153 |
3 | HG02572.hp2 HG02615.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.1779-201G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130077402 | |||||||
chr2:130077445 | T | A | 1 | a0007c0026t0001g0143 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.1779-244A>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130077445 | |||||||
chr2:130077482 | A | G | 59 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(56): Show |
60 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(57): Show |
intron_variant | MODIFIER | c.1779-281T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130077482 | |||||||
chr2:130077647 | T | G | 1 | a0002c0002t0001g0136 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.1779-446A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130077647 | |||||||
chr2:130077649 | A | C | 1 | a0002c0002t0001g0136 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.1779-448T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130077649 | |||||||
chr2:130077676 | A | T | 1 | a0002c0002t0001g0136 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.1779-475T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130077676 | |||||||
chr2:130077681 | G | T | 1 | a0002c0002t0001g0136 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.1779-480C>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130077681 | |||||||
chr2:130077689 | T | G | 1 | a0002c0002t0001g0136 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.1779-488A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130077689 | |||||||
chr2:130077696 | A | G | 1 | a0021c0039t0001g0148 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1779-495T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130077696 | |||||||
chr2:130077709 | C | G | 5 | a0003c0005t0003g0085 a0003c0005t0003g0086 a0003c0005t0003g0087 others(2): Show |
5 | HG01243.hp1 HG02055.hp1 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.1779-508G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130077709 | |||||||
chr2:130077721 | C | T | 4 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(1): Show |
4 | HG02258.hp1 HG02717.hp1 NA20300.hp1 others(1): Show |
intron_variant | MODIFIER | c.1779-520G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130077721 | |||||||
chr2:130077723 | T | C | 86 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(83): Show |
90 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(87): Show |
intron_variant | MODIFIER | c.1779-522A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130077723 | |||||||
chr2:130077799 | C | A | 5 | a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0053 others(2): Show |
5 | HG00673.hp2 HG02027.hp1 HG04184.hp2 others(2): Show |
intron_variant | MODIFIER | c.1779-598G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130077799 | |||||||
chr2:130077830 | C | T | 78 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(75): Show |
82 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.1779-629G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130077830 | |||||||
chr2:130077862 | C | T | 1 | a0002c0002t0001g0133 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.1779-661G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130077862 | |||||||
chr2:130077922 | A | G | 78 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(75): Show |
82 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.1779-721T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130077922 | |||||||
chr2:130077957 | G | A | 19 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(16): Show |
22 | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.1779-756C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130077957 | |||||||
chr2:130077958 | TCTA | T | 78 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(75): Show |
82 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.1779-760_1779-758d others(5): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130077958 | |||||||
chr2:130077965 | T | A | 78 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(75): Show |
82 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.1779-764A>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130077965 | |||||||
chr2:130078077 | G | A | 78 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(75): Show |
82 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.1779-876C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130078077 | |||||||
chr2:130078134 | A | C | 1 | a0002c0003t0001g0145 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.1779-933T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130078134 | |||||||
chr2:130078173 | G | T | 19 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(16): Show |
22 | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.1779-972C>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130078173 | |||||||
chr2:130078183 | C | T | 87 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(84): Show |
91 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(88): Show |
intron_variant | MODIFIER | c.1779-982G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130078183 | |||||||
chr2:130078208 | C | G | 1 | a0001c0001t0002g0062 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.1779-1007G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130078208 | |||||||
chr2:130078236 | G | A | 55 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(52): Show |
56 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.1779-1035C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130078236 | |||||||
chr2:130078299 | T | C | 82 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(79): Show |
86 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(83): Show |
intron_variant | MODIFIER | c.1779-1098A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130078299 | |||||||
chr2:130078355 | TG | T | 4 | a0002c0003t0001g0145 a0005c0012t0007g0152 a0005c0012t0007g0154 others(1): Show |
4 | HG02572.hp2 HG02615.hp1 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1779-1155delC | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130078355 | |||||||
chr2:130078363 | G | A | 78 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(75): Show |
82 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.1779-1162C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130078363 | |||||||
chr2:130078372 | T | C | 78 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(75): Show |
82 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.1779-1171A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130078372 | |||||||
chr2:130078477 | C | T | 1 | a0002c0003t0001g0145 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.1779-1276G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130078477 | |||||||
chr2:130078505 | T | C | 78 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(75): Show |
82 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.1779-1304A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130078505 | |||||||
chr2:130078526 | CCAAAG | C | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.1779-1330_1779-132 others(9): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130078526 | |||||||
chr2:130078541 | C | G | 1 | a0013c0014t0019g0090 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.1779-1340G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130078541 | |||||||
chr2:130078566 | A | G | 1 | a0002c0003t0001g0141 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1779-1365T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130078566 | |||||||
chr2:130078594 | T | C | 1 | a0001c0001t0002g0025 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.1779-1393A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130078594 | |||||||
chr2:130078649 | C | T | 4 | a0002c0003t0001g0145 a0005c0012t0007g0152 a0005c0012t0007g0154 others(1): Show |
4 | HG02572.hp2 HG02615.hp1 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1779-1448G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130078649 | |||||||
chr2:130078724 | G | A | 9 | a0002c0003t0001g0145 a0005c0012t0007g0152 a0005c0012t0007g0154 others(6): Show |
9 | HG02258.hp1 HG02572.hp2 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.1779-1523C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130078724 | |||||||
chr2:130078728 | C | T | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.1779-1527G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130078728 | |||||||
chr2:130078731 | G | C | 1 | a0001c0001t0016g0060 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1779-1530C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130078731 | |||||||
chr2:130078763 | T | C | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.1779-1562A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130078763 | |||||||
chr2:130078822 | G | A | 1 | a0005c0043t0001g0096 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1779-1621C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130078822 | |||||||
chr2:130078896 | G | T | 6 | a0002c0002t0001g0122 a0009c0013t0006g0091 a0009c0013t0006g0092 others(3): Show |
6 | HG02258.hp1 HG02698.hp1 HG02717.hp1 others(3): Show |
intron_variant | MODIFIER | c.1779-1695C>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130078896 | |||||||
chr2:130078907 | A | C | 1 | a0021c0039t0001g0148 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1779-1706T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130078907 | |||||||
chr2:130078992 | G | C | 1 | a0013c0014t0006g0093 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1779-1791C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130078992 | |||||||
chr2:130079102 | CAGAGTA | C | 83 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(80): Show |
87 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(84): Show |
intron_variant | MODIFIER | c.1779-1907_1779-190 others(10): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130079102 | |||||||
chr2:130079122 | T | C | 4 | a0001c0009t0002g0040 a0001c0009t0002g0043 a0001c0009t0002g0058 others(1): Show |
4 | HG00099.hp2 HG00639.hp2 HG01346.hp2 others(1): Show |
intron_variant | MODIFIER | c.1779-1921A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130079122 | |||||||
chr2:130079123 | A | G | 1 | a0002c0002t0001g0112 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.1779-1922T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130079123 | |||||||
chr2:130079134 | A | G | 3 | a0005c0012t0007g0152 a0005c0012t0007g0154 a0005c0038t0007g0153 |
3 | HG02572.hp2 HG02615.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.1779-1933T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130079134 | |||||||
chr2:130079150 | T | C | 83 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(80): Show |
87 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(84): Show |
intron_variant | MODIFIER | c.1779-1949A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130079150 | |||||||
chr2:130079160 | G | C | 83 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(80): Show |
87 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(84): Show |
intron_variant | MODIFIER | c.1779-1959C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130079160 | |||||||
chr2:130079161 | G | A | 18 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(15): Show |
21 | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(18): Show |
intron_variant | MODIFIER | c.1779-1960C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130079161 | |||||||
chr2:130079259 | T | C | 1 | a0002c0003t0001g0145 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.1779-2058A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130079259 | |||||||
chr2:130079270 | T | G | 78 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(75): Show |
82 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.1779-2069A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130079270 | |||||||
chr2:130079301 | C | T | 83 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(80): Show |
87 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(84): Show |
intron_variant | MODIFIER | c.1779-2100G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130079301 | |||||||
chr2:130079357 | C | A | 14 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(11): Show |
17 | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(14): Show |
intron_variant | MODIFIER | c.1779-2156G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130079357 | |||||||
chr2:130079417 | T | C | 78 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(75): Show |
82 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.1779-2216A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130079417 | |||||||
chr2:130079494 | T | G | 78 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(75): Show |
82 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.1779-2293A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130079494 | |||||||
chr2:130079534 | G | A | 81 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(78): Show |
85 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(82): Show |
intron_variant | MODIFIER | c.1779-2333C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130079534 | |||||||
chr2:130079559 | T | C | 87 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(84): Show |
91 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(88): Show |
intron_variant | MODIFIER | c.1779-2358A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130079559 | |||||||
chr2:130079575 | A | G | 78 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(75): Show |
82 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.1779-2374T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130079575 | |||||||
chr2:130079598 | T | C | 78 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(75): Show |
82 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.1779-2397A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130079598 | |||||||
chr2:130079669 | C | A | 83 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(80): Show |
87 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(84): Show |
intron_variant | MODIFIER | c.1779-2468G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130079669 | |||||||
chr2:130079697 | CAT | C | 78 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(75): Show |
82 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.1779-2498_1779-249 others(6): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130079697 | |||||||
chr2:130079705 | T | C | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.1779-2504A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130079705 | |||||||
chr2:130079723 | C | T | 83 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(80): Show |
87 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(84): Show |
intron_variant | MODIFIER | c.1779-2522G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130079723 | |||||||
chr2:130079789 | G | C | 1 | a0012c0041t0001g0097 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1779-2588C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130079789 | |||||||
chr2:130079842 | G | A | 1 | a0031c0020t0014g0018 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1779-2641C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130079842 | |||||||
chr2:130079858 | G | A | 3 | a0005c0012t0007g0152 a0005c0012t0007g0154 a0005c0038t0007g0153 |
3 | HG02572.hp2 HG02615.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.1779-2657C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130079858 | |||||||
chr2:130079867 | G | A | 40 | a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0006 others(37): Show |
45 | HG00099.hp1 HG00639.hp1 HG00735.hp1 others(42): Show |
intron_variant | MODIFIER | c.1779-2666C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130079867 | |||||||
chr2:130079944 | A | G | 78 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(75): Show |
82 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.1779-2743T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130079944 | |||||||
chr2:130079970 | C | T | 1 | a0001c0001t0002g0057 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.1779-2769G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130079970 | |||||||
chr2:130079993 | A | G | 81 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(78): Show |
85 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(82): Show |
intron_variant | MODIFIER | c.1779-2792T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130079993 | |||||||
chr2:130080008 | G | A | 78 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(75): Show |
82 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.1779-2807C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130080008 | |||||||
chr2:130080094 | G | T | 78 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(75): Show |
82 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.1779-2893C>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130080094 | |||||||
chr2:130080143 | TGCGGGG | T | 17 | a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0019 others(14): Show |
18 | HG00544.hp2 HG00597.hp1 HG00597.hp2 others(15): Show |
intron_variant | MODIFIER | c.1779-2948_1779-294 others(10): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130080143 | |||||||
chr2:130080143 | TGCGGGGG | T | 38 | a0001c0001t0002g0007 a0001c0001t0002g0017 a0001c0001t0002g0022 others(35): Show |
38 | HG00099.hp2 HG00639.hp2 HG00673.hp1 others(35): Show |
intron_variant | MODIFIER | c.1779-2949_1779-294 others(11): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130080143 | |||||||
chr2:130080143 | TGCGGGGG others(1): Show |
T | 20 | a0001c0001t0002g0024 a0001c0045t0002g0008 a0003c0004t0003g0005 others(17): Show |
23 | HG01243.hp2 HG01891.hp1 HG02145.hp1 others(20): Show |
intron_variant | MODIFIER | c.1779-2950_1779-294 others(12): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130080143 | |||||||
chr2:130080145 | C | CG | 13 | a0002c0002t0001g0003 a0002c0002t0001g0110 a0002c0003t0001g0101 others(10): Show |
13 | HG01074.hp2 HG02258.hp1 HG02258.hp2 others(10): Show |
intron_variant | MODIFIER | c.1779-2945dupC | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130080145 | |||||||
chr2:130080145 | CG | C | 20 | a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0098 others(17): Show |
21 | HG01346.hp1 HG01515.hp1 HG01943.hp2 others(18): Show |
intron_variant | MODIFIER | c.1779-2945delC | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130080145 | |||||||
chr2:130080158 | G | A | 2 | a0011c0011t0004g0070 a0017c0029t0004g0071 |
2 | HG02257.hp2 HG02723.hp2 |
intron_variant | MODIFIER | c.1779-2957C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130080158 | |||||||
chr2:130080161 | T | G | 78 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(75): Show |
82 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.1779-2960A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130080161 | |||||||
chr2:130080244 | T | C | 78 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(75): Show |
82 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.1779-3043A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130080244 | |||||||
chr2:130080270 | C | T | 1 | a0002c0003t0001g0145 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.1779-3069G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130080270 | |||||||
chr2:130080327 | T | C | 1 | a0029c0044t0018g0073 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.1779-3126A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130080327 | |||||||
chr2:130080327 | T | TAAC | 97 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(94): Show |
101 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(98): Show |
intron_variant | MODIFIER | c.1779-3129_1779-312 others(7): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130080327 | |||||||
chr2:130080367 | T | G | 20 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(17): Show |
23 | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(20): Show |
intron_variant | MODIFIER | c.1779-3166A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130080367 | |||||||
chr2:130080435 | T | C | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.1779-3234A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130080435 | |||||||
chr2:130080503 | A | T | 78 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(75): Show |
82 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.1779-3302T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130080503 | |||||||
chr2:130080530 | C | A | 4 | a0005c0012t0007g0152 a0005c0012t0007g0154 a0005c0038t0007g0153 others(1): Show |
4 | HG02572.hp2 HG02615.hp1 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.1779-3329G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130080530 | |||||||
chr2:130080562 | A | T | 1 | a0029c0044t0018g0073 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.1779-3361T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130080562 | |||||||
chr2:130080580 | G | A | 1 | a0013c0014t0019g0090 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.1779-3379C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130080580 | |||||||
chr2:130080584 | CA | C | 50 | a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0006 others(47): Show |
55 | HG00099.hp1 HG00639.hp1 HG00735.hp1 others(52): Show |
intron_variant | MODIFIER | c.1779-3384delT | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130080584 | |||||||
chr2:130080833 | G | C | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.1779-3632C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130080833 | |||||||
chr2:130080942 | G | A | 3 | a0003c0006t0003g0075 a0003c0006t0003g0076 a0003c0006t0003g0077 |
3 | HG02615.hp2 HG02622.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1779-3741C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130080942 | |||||||
chr2:130080982 | G | A | 55 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(52): Show |
56 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.1779-3781C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130080982 | |||||||
chr2:130081153 | G | A | 59 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(56): Show |
60 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(57): Show |
intron_variant | MODIFIER | c.1779-3952C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130081153 | |||||||
chr2:130081241 | T | C | 8 | a0005c0012t0007g0152 a0005c0012t0007g0154 a0005c0038t0007g0153 others(5): Show |
8 | HG02258.hp1 HG02572.hp2 HG02615.hp1 others(5): Show |
intron_variant | MODIFIER | c.1779-4040A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130081241 | |||||||
chr2:130081291 | T | C | 6 | a0010c0010t0004g0015 a0010c0010t0004g0016 a0011c0011t0004g0070 others(3): Show |
6 | HG02257.hp2 HG02451.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.1779-4090A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130081291 | |||||||
chr2:130081345 | A | C | 1 | a0031c0020t0014g0018 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1779-4144T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130081345 | |||||||
chr2:130081359 | TCTAA | T | 3 | a0005c0012t0007g0152 a0005c0012t0007g0154 a0005c0038t0007g0153 |
3 | HG02572.hp2 HG02615.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.1779-4162_1779-415 others(8): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130081359 | |||||||
chr2:130081561 | G | C | 1 | a0031c0020t0014g0018 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1778+4253C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130081561 | |||||||
chr2:130081607 | A | T | 78 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(75): Show |
82 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.1778+4207T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130081607 | |||||||
chr2:130081634 | C | A | 3 | a0005c0012t0007g0152 a0005c0012t0007g0154 a0005c0038t0007g0153 |
3 | HG02572.hp2 HG02615.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.1778+4180G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130081634 | |||||||
chr2:130081713 | A | G | 3 | a0003c0006t0003g0075 a0003c0006t0003g0076 a0003c0006t0003g0077 |
3 | HG02615.hp2 HG02622.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1778+4101T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130081713 | |||||||
chr2:130081757 | G | A | 4 | a0002c0002t0001g0108 a0002c0002t0001g0115 a0002c0002t0001g0116 others(1): Show |
4 | HG02015.hp2 HG02056.hp1 HG02074.hp2 others(1): Show |
intron_variant | MODIFIER | c.1778+4057C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130081757 | |||||||
chr2:130081785 | A | G | 1 | a0001c0001t0002g0049 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.1778+4029T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130081785 | |||||||
chr2:130081820 | G | A | 18 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(15): Show |
21 | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(18): Show |
intron_variant | MODIFIER | c.1778+3994C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130081820 | |||||||
chr2:130082056 | G | A | 1 | a0001c0001t0002g0056 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.1778+3758C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130082056 | |||||||
chr2:130082058 | G | A | 1 | a0013c0014t0019g0090 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.1778+3756C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130082058 | |||||||
chr2:130082101 | A | C | 6 | a0002c0002t0001g0002 a0002c0002t0001g0105 a0002c0002t0001g0106 others(3): Show |
8 | HG00735.hp2 HG01358.hp1 HG01943.hp2 others(5): Show |
intron_variant | MODIFIER | c.1778+3713T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130082101 | |||||||
chr2:130082164 | T | C | 3 | a0005c0012t0007g0152 a0005c0012t0007g0154 a0005c0038t0007g0153 |
3 | HG02572.hp2 HG02615.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.1778+3650A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130082164 | |||||||
chr2:130082501 | G | A | 3 | a0011c0011t0004g0070 a0011c0011t0017g0072 a0017c0029t0004g0071 |
3 | HG02257.hp2 HG02723.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.1778+3313C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130082501 | |||||||
chr2:130082519 | A | T | 64 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(61): Show |
65 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(62): Show |
intron_variant | MODIFIER | c.1778+3295T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130082519 | |||||||
chr2:130082550 | G | C | 1 | a0002c0003t0009g0140 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.1778+3264C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130082550 | |||||||
chr2:130082614 | C | G | 19 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(16): Show |
22 | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.1778+3200G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130082614 | |||||||
chr2:130082621 | C | CA | 3 | a0020c0018t0008g0150 a0023c0016t0008g0151 a0030c0017t0008g0149 |
3 | HG02886.hp1 HG03225.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1778+3192_1778+319 others(5): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130082621 | |||||||
chr2:130082727 | AT | A | 59 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(56): Show |
60 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(57): Show |
intron_variant | MODIFIER | c.1778+3086delA | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130082727 | |||||||
chr2:130082739 | G | C | 1 | a0012c0041t0001g0097 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1778+3075C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130082739 | |||||||
chr2:130082781 | G | C | 6 | a0010c0010t0004g0015 a0010c0010t0004g0016 a0011c0011t0004g0070 others(3): Show |
6 | HG02257.hp2 HG02451.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.1778+3033C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130082781 | |||||||
chr2:130083058 | A | G | 1 | a0002c0002t0001g0118 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.1778+2756T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130083058 | |||||||
chr2:130083064 | G | A | 1 | a0002c0003t0001g0103 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.1778+2750C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130083064 | |||||||
chr2:130083088 | C | A | 1 | a0001c0001t0002g0067 | 1 | NA18980.hp1 | intron_variant | MODIFIER | c.1778+2726G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130083088 | |||||||
chr2:130083203 | T | C | 1 | a0002c0002t0022g0155 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.1778+2611A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130083203 | |||||||
chr2:130083321 | T | C | 1 | a0001c0001t0002g0062 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.1778+2493A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130083321 | |||||||
chr2:130083334 | T | TA | 5 | a0004c0007t0005g0010 a0004c0007t0005g0011 a0004c0007t0005g0012 others(2): Show |
5 | HG01243.hp2 HG02258.hp1 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.1778+2479dupT | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130083334 | |||||||
chr2:130083451 | A | G | 1 | a0001c0001t0002g0022 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.1778+2363T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130083451 | |||||||
chr2:130083682 | G | C | 1 | a0003c0004t0003g0081 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.1778+2132C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130083682 | |||||||
chr2:130083726 | T | C | 1 | a0002c0002t0010g0125 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.1778+2088A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130083726 | |||||||
chr2:130083759 | T | G | 1 | a0002c0003t0001g0129 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.1778+2055A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130083759 | |||||||
chr2:130083847 | C | A | 3 | a0020c0018t0008g0150 a0023c0016t0008g0151 a0030c0017t0008g0149 |
3 | HG02886.hp1 HG03225.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1778+1967G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130083847 | |||||||
chr2:130083862 | A | C | 19 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(16): Show |
22 | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.1778+1952T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130083862 | |||||||
chr2:130083906 | C | A | 7 | a0002c0003t0001g0101 a0002c0003t0001g0103 a0002c0003t0001g0126 others(4): Show |
7 | HG01891.hp2 HG02145.hp2 HG02280.hp1 others(4): Show |
intron_variant | MODIFIER | c.1778+1908G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130083906 | |||||||
chr2:130083967 | C | T | 99 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(96): Show |
103 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(100): Show |
intron_variant | MODIFIER | c.1778+1847G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130083967 | |||||||
chr2:130084202 | A | G | 96 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(93): Show |
100 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(97): Show |
intron_variant | MODIFIER | c.1778+1612T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130084202 | |||||||
chr2:130084444 | G | A | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.1778+1370C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130084444 | |||||||
chr2:130084495 | G | C | 1 | a0012c0041t0001g0097 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1778+1319C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130084495 | |||||||
chr2:130084573 | C | A | 6 | a0010c0010t0004g0015 a0010c0010t0004g0016 a0011c0011t0004g0070 others(3): Show |
6 | HG02257.hp2 HG02451.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.1778+1241G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130084573 | |||||||
chr2:130084576 | T | C | 1 | a0002c0002t0001g0122 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.1778+1238A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130084576 | |||||||
chr2:130084674 | T | C | 1 | a0005c0043t0001g0096 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1778+1140A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130084674 | |||||||
chr2:130084740 | G | C | 55 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(52): Show |
56 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.1778+1074C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130084740 | |||||||
chr2:130084826 | A | T | 1 | a0010c0010t0004g0015 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1778+988T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130084826 | |||||||
chr2:130084881 | A | C | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.1778+933T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130084881 | |||||||
chr2:130084888 | A | T | 154 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(151): Show |
163 | HG00099.hp1 HG00099.hp2 HG00544.hp1 others(160): Show |
intron_variant | MODIFIER | c.1778+926T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130084888 | |||||||
chr2:130084907 | GAT | G | 9 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(6): Show |
12 | HG01891.hp1 HG02145.hp1 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.1778+905_1778+906d others(4): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130084907 | |||||||
chr2:130084908 | ATG | A | 3 | a0005c0012t0007g0152 a0005c0012t0007g0154 a0005c0038t0007g0153 |
3 | HG02572.hp2 HG02615.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.1778+904_1778+905d others(4): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130084908 | |||||||
chr2:130084928 | C | G | 6 | a0010c0010t0004g0015 a0010c0010t0004g0016 a0011c0011t0004g0070 others(3): Show |
6 | HG02257.hp2 HG02451.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.1778+886G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130084928 | |||||||
chr2:130084987 | A | T | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.1778+827T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130084987 | |||||||
chr2:130085050 | G | C | 2 | a0001c0001t0002g0017 a0001c0045t0002g0008 |
2 | HG02809.hp2 NA18989.hp2 |
intron_variant | MODIFIER | c.1778+764C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130085050 | |||||||
chr2:130085156 | T | G | 55 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(52): Show |
56 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.1778+658A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130085156 | |||||||
chr2:130085161 | A | ACT | 9 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(6): Show |
12 | HG01891.hp1 HG02145.hp1 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.1778+651_1778+652d others(4): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130085161 | |||||||
chr2:130085173 | G | A | 1 | a0005c0043t0001g0096 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1778+641C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130085173 | |||||||
chr2:130085175 | G | C | 6 | a0010c0010t0004g0015 a0010c0010t0004g0016 a0011c0011t0004g0070 others(3): Show |
6 | HG02257.hp2 HG02451.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.1778+639C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130085175 | |||||||
chr2:130085215 | T | C | 1 | a0021c0039t0001g0148 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1778+599A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130085215 | |||||||
chr2:130085289 | T | C | 4 | a0003c0006t0003g0075 a0003c0006t0003g0076 a0003c0006t0003g0077 others(1): Show |
4 | HG02615.hp2 HG02622.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.1778+525A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130085289 | |||||||
chr2:130085439 | C | T | 1 | a0002c0002t0001g0107 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.1778+375G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130085439 | |||||||
chr2:130085473 | C | T | 77 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(74): Show |
78 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(75): Show |
intron_variant | MODIFIER | c.1778+341G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130085473 | |||||||
chr2:130085525 | C | G | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.1778+289G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130085525 | |||||||
chr2:130085582 | G | A | 10 | a0003c0005t0003g0085 a0003c0005t0003g0086 a0003c0005t0003g0087 others(7): Show |
10 | HG01243.hp1 HG02055.hp1 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.1778+232C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130085582 | |||||||
chr2:130085592 | T | C | 96 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(93): Show |
100 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(97): Show |
intron_variant | MODIFIER | c.1778+222A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130085592 | |||||||
chr2:130085706 | C | G | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.1778+108G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130085706 | |||||||
chr2:130085771 | G | A | 77 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(74): Show |
78 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(75): Show |
intron_variant | MODIFIER | c.1778+43C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 15/16 | chr2 | 130085771 | |||||||
chr2:130086131 | C | T | 1 | a0024c0028t0002g0038 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.1597-136G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 14/16 | chr2 | 130086131 | |||||||
chr2:130086505 | A | C | 1 | a0010c0010t0004g0015 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1552-118T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 13/16 | chr2 | 130086505 | |||||||
chr2:130086534 | A | T | 1 | a0021c0039t0001g0148 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1552-147T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 13/16 | chr2 | 130086534 | |||||||
chr2:130086696 | T | C | 1 | a0002c0002t0001g0117 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.1552-309A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 13/16 | chr2 | 130086696 | |||||||
chr2:130086706 | T | G | 9 | a0003c0005t0003g0085 a0003c0005t0003g0086 a0003c0005t0003g0087 others(6): Show |
9 | HG01243.hp1 HG02055.hp1 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.1552-319A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 13/16 | chr2 | 130086706 | |||||||
chr2:130086744 | T | C | 3 | a0005c0012t0007g0152 a0005c0012t0007g0154 a0005c0038t0007g0153 |
3 | HG02572.hp2 HG02615.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.1552-357A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 13/16 | chr2 | 130086744 | |||||||
chr2:130086809 | A | C | 2 | a0007c0026t0001g0143 a0013c0014t0006g0093 |
2 | HG03139.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.1552-422T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 13/16 | chr2 | 130086809 | |||||||
chr2:130086928 | A | G | 1 | a0003c0004t0003g0080 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1552-541T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 13/16 | chr2 | 130086928 | |||||||
chr2:130087008 | G | C | 1 | a0012c0041t0001g0097 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1552-621C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 13/16 | chr2 | 130087008 | |||||||
chr2:130087031 | T | G | 10 | a0003c0005t0003g0085 a0003c0005t0003g0086 a0003c0005t0003g0087 others(7): Show |
10 | HG01243.hp1 HG02055.hp1 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.1552-644A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 13/16 | chr2 | 130087031 | |||||||
chr2:130087039 | C | A | 1 | a0021c0039t0001g0148 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1552-652G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 13/16 | chr2 | 130087039 | |||||||
chr2:130087145 | G | T | 1 | a0019c0034t0012g0045 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.1552-758C>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 13/16 | chr2 | 130087145 | |||||||
chr2:130087176 | C | G | 6 | a0010c0010t0004g0015 a0010c0010t0004g0016 a0011c0011t0004g0070 others(3): Show |
6 | HG02257.hp2 HG02451.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.1552-789G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 13/16 | chr2 | 130087176 | |||||||
chr2:130087294 | A | G | 1 | a0002c0002t0001g0119 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.1551+773T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 13/16 | chr2 | 130087294 | |||||||
chr2:130087304 | C | G | 1 | a0001c0001t0002g0042 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.1551+763G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 13/16 | chr2 | 130087304 | |||||||
chr2:130087357 | T | A | 1 | a0002c0002t0001g0118 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.1551+710A>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 13/16 | chr2 | 130087357 | |||||||
chr2:130087500 | A | T | 83 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(80): Show |
87 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(84): Show |
intron_variant | MODIFIER | c.1551+567T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 13/16 | chr2 | 130087500 | |||||||
chr2:130087542 | T | C | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.1551+525A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 13/16 | chr2 | 130087542 | |||||||
chr2:130087570 | A | G | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.1551+497T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 13/16 | chr2 | 130087570 | |||||||
chr2:130087621 | A | C | 1 | a0022c0042t0023g0156 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1551+446T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 13/16 | chr2 | 130087621 | |||||||
chr2:130087628 | TA | T | 69 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(66): Show |
73 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(70): Show |
intron_variant | MODIFIER | c.1551+438delT | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 13/16 | chr2 | 130087628 | |||||||
chr2:130087631 | AAT | A | 3 | a0001c0001t0002g0026 a0001c0001t0002g0030 a0001c0001t0002g0049 |
3 | HG01515.hp2 HG02293.hp2 NA19056.hp1 |
intron_variant | MODIFIER | c.1551+434_1551+435d others(4): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 13/16 | chr2 | 130087631 | |||||||
chr2:130087632 | A | T | 5 | a0001c0001t0002g0017 a0001c0001t0002g0025 a0001c0001t0002g0052 others(2): Show |
5 | HG01952.hp2 HG02622.hp2 HG02698.hp2 others(2): Show |
intron_variant | MODIFIER | c.1551+435T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 13/16 | chr2 | 130087632 | |||||||
chr2:130087632 | ATT | A | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0019g0090 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 HG03098.hp2 others(2): Show |
intron_variant | MODIFIER | c.1551+433_1551+434d others(4): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 13/16 | chr2 | 130087632 | |||||||
chr2:130087710 | G | T | 55 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(52): Show |
56 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.1551+357C>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 13/16 | chr2 | 130087710 | |||||||
chr2:130087711 | C | T | 55 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(52): Show |
56 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.1551+356G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 13/16 | chr2 | 130087711 | |||||||
chr2:130087782 | A | G | 4 | a0003c0006t0003g0075 a0003c0006t0003g0076 a0003c0006t0003g0077 others(1): Show |
4 | HG02615.hp2 HG02622.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.1551+285T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 13/16 | chr2 | 130087782 | |||||||
chr2:130087823 | G | A | 4 | a0001c0001t0002g0004 a0001c0001t0002g0019 a0001c0001t0002g0021 others(1): Show |
5 | HG00544.hp2 HG02132.hp1 NA18975.hp2 others(2): Show |
intron_variant | MODIFIER | c.1551+244C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 13/16 | chr2 | 130087823 | |||||||
chr2:130088005 | A | T | 1 | a0004c0007t0005g0013 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1551+62T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 13/16 | chr2 | 130088005 | |||||||
chr2:130088155 | C | T | 1 | a0009c0013t0006g0091 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1481-18G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130088155 | |||||||
chr2:130088265 | T | C | 6 | a0010c0010t0004g0015 a0010c0010t0004g0016 a0011c0011t0004g0070 others(3): Show |
6 | HG02257.hp2 HG02451.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.1481-128A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130088265 | |||||||
chr2:130088478 | C | G | 1 | a0001c0001t0002g0052 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.1481-341G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130088478 | |||||||
chr2:130088524 | C | T | 3 | a0005c0012t0007g0152 a0005c0012t0007g0154 a0005c0038t0007g0153 |
3 | HG02572.hp2 HG02615.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.1481-387G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130088524 | |||||||
chr2:130088534 | C | CTAA | 55 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(52): Show |
56 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.1481-400_1481-398d others(5): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130088534 | |||||||
chr2:130088595 | C | CT | 7 | a0001c0001t0002g0046 a0001c0001t0002g0051 a0001c0001t0002g0066 others(4): Show |
7 | HG02630.hp2 HG02717.hp2 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.1481-459dupA | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130088595 | |||||||
chr2:130088601 | T | C | 1 | a0012c0041t0001g0097 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1481-464A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130088601 | |||||||
chr2:130088614 | C | T | 59 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(56): Show |
60 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(57): Show |
intron_variant | MODIFIER | c.1481-477G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130088614 | |||||||
chr2:130088618 | A | G | 55 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(52): Show |
56 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.1481-481T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130088618 | |||||||
chr2:130088678 | G | C | 55 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(52): Show |
56 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.1481-541C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130088678 | |||||||
chr2:130088683 | T | A | 23 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(20): Show |
26 | HG01243.hp1 HG01243.hp2 HG01891.hp1 others(23): Show |
intron_variant | MODIFIER | c.1481-546A>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130088683 | |||||||
chr2:130088849 | A | G | 19 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(16): Show |
22 | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.1481-712T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130088849 | |||||||
chr2:130088889 | T | C | 19 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(16): Show |
22 | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.1481-752A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130088889 | |||||||
chr2:130088910 | C | T | 1 | a0021c0039t0001g0148 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1481-773G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130088910 | |||||||
chr2:130089002 | G | T | 37 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(34): Show |
40 | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(37): Show |
intron_variant | MODIFIER | c.1481-865C>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130089002 | |||||||
chr2:130089031 | C | CAT | 55 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(52): Show |
56 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.1481-895_1481-894i others(4): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130089031 | |||||||
chr2:130089057 | C | T | 55 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(52): Show |
56 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.1481-920G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130089057 | |||||||
chr2:130089141 | C | T | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.1481-1004G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130089141 | |||||||
chr2:130089162 | G | C | 55 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(52): Show |
56 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.1481-1025C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130089162 | |||||||
chr2:130089225 | T | G | 2 | a0002c0003t0001g0101 a0002c0003t0001g0131 |
2 | HG02145.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.1481-1088A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130089225 | |||||||
chr2:130089250 | T | G | 1 | a0001c0001t0002g0054 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.1481-1113A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130089250 | |||||||
chr2:130089273 | G | A | 55 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(52): Show |
56 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.1481-1136C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130089273 | |||||||
chr2:130089274 | G | T | 1 | a0013c0014t0019g0090 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.1481-1137C>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130089274 | |||||||
chr2:130089305 | C | G | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.1481-1168G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130089305 | |||||||
chr2:130089305 | C | T | 55 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(52): Show |
56 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.1481-1168G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130089305 | |||||||
chr2:130089306 | T | G | 60 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(57): Show |
61 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(58): Show |
intron_variant | MODIFIER | c.1481-1169A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130089306 | |||||||
chr2:130089318 | GA | G | 4 | a0003c0006t0003g0075 a0003c0006t0003g0076 a0003c0006t0003g0077 others(1): Show |
4 | HG02615.hp2 HG02622.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.1481-1182delT | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130089318 | |||||||
chr2:130089356 | G | A | 1 | a0001c0001t0002g0009 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.1481-1219C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130089356 | |||||||
chr2:130089359 | C | T | 55 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(52): Show |
56 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.1481-1222G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130089359 | |||||||
chr2:130089398 | G | C | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.1481-1261C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130089398 | |||||||
chr2:130089447 | A | C | 60 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(57): Show |
61 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(58): Show |
intron_variant | MODIFIER | c.1481-1310T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130089447 | |||||||
chr2:130089472 | A | C | 1 | a0009c0013t0006g0091 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1481-1335T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130089472 | |||||||
chr2:130089548 | C | G | 55 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(52): Show |
56 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.1481-1411G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130089548 | |||||||
chr2:130089592 | T | A | 1 | a0001c0001t0002g0055 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.1481-1455A>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130089592 | |||||||
chr2:130089703 | T | C | 1 | a0001c0001t0015g0020 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.1481-1566A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130089703 | |||||||
chr2:130089711 | C | G | 59 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(56): Show |
60 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(57): Show |
intron_variant | MODIFIER | c.1481-1574G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130089711 | |||||||
chr2:130089716 | G | A | 1 | a0001c0001t0002g0051 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.1481-1579C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130089716 | |||||||
chr2:130089735 | A | G | 55 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(52): Show |
56 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.1481-1598T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130089735 | |||||||
chr2:130089739 | A | C | 1 | a0031c0020t0014g0018 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1481-1602T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130089739 | |||||||
chr2:130089739 | A | G | 1 | a0001c0001t0002g0065 | 1 | NA19082.hp2 | intron_variant | MODIFIER | c.1481-1602T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130089739 | |||||||
chr2:130089792 | A | C | 1 | a0021c0039t0001g0148 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1481-1655T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130089792 | |||||||
chr2:130089999 | A | C | 97 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(94): Show |
101 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(98): Show |
intron_variant | MODIFIER | c.1481-1862T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130089999 | |||||||
chr2:130090098 | C | T | 18 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(15): Show |
21 | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(18): Show |
intron_variant | MODIFIER | c.1481-1961G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130090098 | |||||||
chr2:130090110 | T | G | 1 | a0022c0042t0023g0156 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1481-1973A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130090110 | |||||||
chr2:130090111 | T | C | 1 | a0022c0042t0023g0156 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1481-1974A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130090111 | |||||||
chr2:130090177 | G | A | 3 | a0005c0012t0007g0152 a0005c0012t0007g0154 a0005c0038t0007g0153 |
3 | HG02572.hp2 HG02615.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.1481-2040C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130090177 | |||||||
chr2:130090311 | T | C | 1 | a0005c0043t0001g0096 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1481-2174A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130090311 | |||||||
chr2:130090372 | A | C | 1 | a0021c0039t0001g0148 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1481-2235T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130090372 | |||||||
chr2:130090441 | C | T | 6 | a0010c0010t0004g0015 a0010c0010t0004g0016 a0011c0011t0004g0070 others(3): Show |
6 | HG02257.hp2 HG02451.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.1481-2304G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130090441 | |||||||
chr2:130090452 | C | T | 96 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(93): Show |
100 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(97): Show |
intron_variant | MODIFIER | c.1481-2315G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130090452 | |||||||
chr2:130090470 | T | G | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.1481-2333A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130090470 | |||||||
chr2:130090492 | C | T | 55 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(52): Show |
56 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.1481-2355G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130090492 | |||||||
chr2:130090510 | G | A | 55 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(52): Show |
56 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.1481-2373C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130090510 | |||||||
chr2:130090665 | T | C | 1 | a0029c0044t0018g0073 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.1481-2528A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130090665 | |||||||
chr2:130090712 | A | T | 3 | a0011c0011t0004g0070 a0011c0011t0017g0072 a0017c0029t0004g0071 |
3 | HG02257.hp2 HG02723.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.1481-2575T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130090712 | |||||||
chr2:130090715 | A | C | 3 | a0011c0011t0004g0070 a0011c0011t0017g0072 a0017c0029t0004g0071 |
3 | HG02257.hp2 HG02723.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.1481-2578T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130090715 | |||||||
chr2:130090717 | T | TTAA | 3 | a0011c0011t0004g0070 a0011c0011t0017g0072 a0017c0029t0004g0071 |
3 | HG02257.hp2 HG02723.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.1481-2583_1481-258 others(7): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130090717 | |||||||
chr2:130090776 | G | A | 2 | a0008c0015t0001g0100 a0008c0015t0001g0121 |
2 | HG01261.hp1 HG01515.hp1 |
intron_variant | MODIFIER | c.1481-2639C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130090776 | |||||||
chr2:130090797 | T | C | 83 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(80): Show |
87 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(84): Show |
intron_variant | MODIFIER | c.1480+2641A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130090797 | |||||||
chr2:130090820 | G | A | 55 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(52): Show |
56 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.1480+2618C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130090820 | |||||||
chr2:130090976 | T | C | 55 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(52): Show |
56 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.1480+2462A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130090976 | |||||||
chr2:130091030 | T | C | 1 | a0001c0031t0002g0068 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1480+2408A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130091030 | |||||||
chr2:130091192 | G | A | 55 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(52): Show |
56 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.1480+2246C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130091192 | |||||||
chr2:130091258 | C | T | 4 | a0004c0007t0005g0010 a0004c0007t0005g0011 a0004c0007t0005g0012 others(1): Show |
4 | HG01243.hp2 HG02559.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.1480+2180G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130091258 | |||||||
chr2:130091286 | C | T | 55 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(52): Show |
56 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.1480+2152G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130091286 | |||||||
chr2:130091287 | A | G | 55 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(52): Show |
56 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.1480+2151T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130091287 | |||||||
chr2:130091301 | A | C | 55 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(52): Show |
56 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.1480+2137T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130091301 | |||||||
chr2:130091308 | A | T | 12 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(9): Show |
15 | HG01891.hp1 HG02145.hp1 HG02257.hp1 others(12): Show |
intron_variant | MODIFIER | c.1480+2130T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130091308 | |||||||
chr2:130091364 | A | G | 60 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(57): Show |
61 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(58): Show |
intron_variant | MODIFIER | c.1480+2074T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130091364 | |||||||
chr2:130091366 | A | G | 23 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(20): Show |
26 | HG01243.hp1 HG01243.hp2 HG01891.hp1 others(23): Show |
intron_variant | MODIFIER | c.1480+2072T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130091366 | |||||||
chr2:130091384 | T | C | 1 | a0001c0001t0002g0041 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.1480+2054A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130091384 | |||||||
chr2:130091406 | T | C | 83 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(80): Show |
87 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(84): Show |
intron_variant | MODIFIER | c.1480+2032A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130091406 | |||||||
chr2:130091407 | A | G | 23 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(20): Show |
26 | HG01243.hp1 HG01243.hp2 HG01891.hp1 others(23): Show |
intron_variant | MODIFIER | c.1480+2031T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130091407 | |||||||
chr2:130091419 | A | G | 2 | a0002c0002t0001g0108 a0015c0022t0001g0134 |
2 | HG02015.hp2 HG02056.hp1 |
intron_variant | MODIFIER | c.1480+2019T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130091419 | |||||||
chr2:130091461 | T | C | 18 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(15): Show |
21 | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(18): Show |
intron_variant | MODIFIER | c.1480+1977A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130091461 | |||||||
chr2:130091500 | T | G | 55 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(52): Show |
56 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.1480+1938A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130091500 | |||||||
chr2:130091555 | C | T | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.1480+1883G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130091555 | |||||||
chr2:130091556 | A | G | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.1480+1882T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130091556 | |||||||
chr2:130091566 | G | A | 3 | a0005c0012t0007g0152 a0005c0012t0007g0154 a0005c0038t0007g0153 |
3 | HG02572.hp2 HG02615.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.1480+1872C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130091566 | |||||||
chr2:130091605 | C | A | 1 | a0004c0007t0005g0010 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1480+1833G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130091605 | |||||||
chr2:130091676 | C | A | 55 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(52): Show |
56 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.1480+1762G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130091676 | |||||||
chr2:130091747 | C | T | 1 | a0022c0042t0023g0156 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1480+1691G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130091747 | |||||||
chr2:130091769 | G | A | 9 | a0004c0007t0005g0010 a0004c0007t0005g0011 a0004c0007t0005g0012 others(6): Show |
9 | HG01243.hp2 HG02258.hp1 HG02559.hp1 others(6): Show |
intron_variant | MODIFIER | c.1480+1669C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130091769 | |||||||
chr2:130091792 | T | G | 1 | a0001c0001t0002g0039 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.1480+1646A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130091792 | |||||||
chr2:130091822 | A | G | 60 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(57): Show |
61 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(58): Show |
intron_variant | MODIFIER | c.1480+1616T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130091822 | |||||||
chr2:130091924 | C | T | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.1480+1514G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130091924 | |||||||
chr2:130091952 | T | A | 1 | a0001c0001t0002g0034 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1480+1486A>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130091952 | |||||||
chr2:130091980 | T | C | 1 | a0002c0002t0001g0122 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.1480+1458A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130091980 | |||||||
chr2:130092094 | A | T | 1 | a0003c0004t0003g0080 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1480+1344T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130092094 | |||||||
chr2:130092117 | CATAATT | C | 3 | a0005c0012t0007g0152 a0005c0012t0007g0154 a0005c0038t0007g0153 |
3 | HG02572.hp2 HG02615.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.1480+1315_1480+132 others(10): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130092117 | |||||||
chr2:130092201 | A | G | 6 | a0010c0010t0004g0015 a0010c0010t0004g0016 a0011c0011t0004g0070 others(3): Show |
6 | HG02257.hp2 HG02451.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.1480+1237T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130092201 | |||||||
chr2:130092229 | C | A | 3 | a0020c0018t0008g0150 a0023c0016t0008g0151 a0030c0017t0008g0149 |
3 | HG02886.hp1 HG03225.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1480+1209G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130092229 | |||||||
chr2:130092248 | G | T | 1 | a0005c0038t0007g0153 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.1480+1190C>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130092248 | |||||||
chr2:130092282 | T | C | 55 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(52): Show |
56 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.1480+1156A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130092282 | |||||||
chr2:130092285 | A | C | 1 | a0009c0013t0006g0091 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1480+1153T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130092285 | |||||||
chr2:130092289 | G | T | 55 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(52): Show |
56 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.1480+1149C>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130092289 | |||||||
chr2:130092408 | CT | C | 6 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(3): Show |
6 | HG02258.hp1 HG02717.hp1 HG03098.hp2 others(3): Show |
intron_variant | MODIFIER | c.1480+1029delA | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130092408 | |||||||
chr2:130092455 | T | C | 23 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(20): Show |
26 | HG01243.hp1 HG01243.hp2 HG01891.hp1 others(23): Show |
intron_variant | MODIFIER | c.1480+983A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130092455 | |||||||
chr2:130092467 | T | C | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.1480+971A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130092467 | |||||||
chr2:130092485 | A | T | 5 | a0003c0005t0003g0085 a0003c0005t0003g0086 a0003c0005t0003g0087 others(2): Show |
5 | HG01243.hp1 HG02055.hp1 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.1480+953T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130092485 | |||||||
chr2:130092564 | T | C | 54 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(51): Show |
55 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(52): Show |
intron_variant | MODIFIER | c.1480+874A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130092564 | |||||||
chr2:130092581 | C | A | 4 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0019g0090 others(1): Show |
4 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(1): Show |
intron_variant | MODIFIER | c.1480+857G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130092581 | |||||||
chr2:130092601 | A | C | 23 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(20): Show |
26 | HG01243.hp1 HG01243.hp2 HG01891.hp1 others(23): Show |
intron_variant | MODIFIER | c.1480+837T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130092601 | |||||||
chr2:130092635 | G | A | 1 | a0002c0002t0001g0137 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.1480+803C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130092635 | |||||||
chr2:130092684 | C | A | 1 | a0001c0001t0002g0064 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1480+754G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130092684 | |||||||
chr2:130092690 | G | A | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0019g0090 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 HG03098.hp2 others(2): Show |
intron_variant | MODIFIER | c.1480+748C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130092690 | |||||||
chr2:130092898 | C | A | 60 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(57): Show |
61 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(58): Show |
intron_variant | MODIFIER | c.1480+540G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130092898 | |||||||
chr2:130092922 | C | T | 56 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(53): Show |
57 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(54): Show |
intron_variant | MODIFIER | c.1480+516G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130092922 | |||||||
chr2:130092930 | G | T | 97 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(94): Show |
101 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(98): Show |
intron_variant | MODIFIER | c.1480+508C>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130092930 | |||||||
chr2:130092939 | C | T | 23 | a0001c0001t0011g0033 a0003c0004t0003g0005 a0003c0004t0003g0074 others(20): Show |
26 | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(23): Show |
intron_variant | MODIFIER | c.1480+499G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130092939 | |||||||
chr2:130092952 | T | G | 77 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(74): Show |
81 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(78): Show |
intron_variant | MODIFIER | c.1480+486A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130092952 | |||||||
chr2:130092958 | C | A | 1 | a0003c0006t0003g0077 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1480+480G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130092958 | |||||||
chr2:130092959 | G | A | 1 | a0013c0014t0019g0090 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.1480+479C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130092959 | |||||||
chr2:130093011 | T | C | 55 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(52): Show |
56 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.1480+427A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130093011 | |||||||
chr2:130093034 | T | C | 55 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(52): Show |
56 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.1480+404A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130093034 | |||||||
chr2:130093070 | A | T | 55 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(52): Show |
56 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.1480+368T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130093070 | |||||||
chr2:130093126 | G | C | 83 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(80): Show |
87 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(84): Show |
intron_variant | MODIFIER | c.1480+312C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130093126 | |||||||
chr2:130093203 | C | A | 55 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(52): Show |
56 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.1480+235G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130093203 | |||||||
chr2:130093294 | A | G | 6 | a0010c0010t0004g0015 a0010c0010t0004g0016 a0011c0011t0004g0070 others(3): Show |
6 | HG02257.hp2 HG02451.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.1480+144T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130093294 | |||||||
chr2:130093316 | A | G | 23 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(20): Show |
26 | HG01243.hp1 HG01243.hp2 HG01891.hp1 others(23): Show |
intron_variant | MODIFIER | c.1480+122T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130093316 | |||||||
chr2:130093349 | T | C | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.1480+89A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 12/16 | chr2 | 130093349 | |||||||
chr2:130093687 | G | T | 19 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(16): Show |
22 | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.1410-179C>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130093687 | |||||||
chr2:130093728 | T | G | 100 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(97): Show |
104 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(101): Show |
intron_variant | MODIFIER | c.1410-220A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130093728 | |||||||
chr2:130093747 | T | A | 1 | a0021c0039t0001g0148 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1410-239A>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130093747 | |||||||
chr2:130093750 | A | G | 74 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(71): Show |
78 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(75): Show |
intron_variant | MODIFIER | c.1410-242T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130093750 | |||||||
chr2:130093756 | C | A | 1 | a0021c0039t0001g0148 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1410-248G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130093756 | |||||||
chr2:130093847 | C | T | 2 | a0009c0013t0006g0091 a0009c0013t0006g0092 |
2 | HG02258.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.1410-339G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130093847 | |||||||
chr2:130093850 | T | TGTC | 54 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(51): Show |
55 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(52): Show |
intron_variant | MODIFIER | c.1410-345_1410-343d others(5): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130093850 | |||||||
chr2:130093851 | G | GTCT | 3 | a0001c0031t0002g0068 a0009c0013t0006g0091 a0009c0013t0006g0092 |
3 | HG02258.hp1 HG02717.hp1 HG04115.hp2 |
intron_variant | MODIFIER | c.1410-346_1410-344d others(5): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130093851 | |||||||
chr2:130093912 | C | A | 2 | a0009c0013t0006g0091 a0009c0013t0006g0092 |
2 | HG02258.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.1410-404G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130093912 | |||||||
chr2:130093919 | A | AT | 55 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(52): Show |
56 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.1410-412dupA | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130093919 | |||||||
chr2:130094067 | T | C | 2 | a0009c0013t0006g0091 a0009c0013t0006g0092 |
2 | HG02258.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.1410-559A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130094067 | |||||||
chr2:130094138 | A | G | 19 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(16): Show |
22 | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.1410-630T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130094138 | |||||||
chr2:130094320 | T | C | 6 | a0010c0010t0004g0015 a0010c0010t0004g0016 a0011c0011t0004g0070 others(3): Show |
6 | HG02257.hp2 HG02451.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.1410-812A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130094320 | |||||||
chr2:130094362 | C | T | 1 | a0002c0002t0001g0124 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.1410-854G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130094362 | |||||||
chr2:130094386 | T | A | 6 | a0010c0010t0004g0015 a0010c0010t0004g0016 a0011c0011t0004g0070 others(3): Show |
6 | HG02257.hp2 HG02451.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.1410-878A>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130094386 | |||||||
chr2:130094454 | G | T | 1 | a0001c0031t0002g0068 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1410-946C>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130094454 | |||||||
chr2:130094459 | A | T | 1 | a0001c0031t0002g0068 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1410-951T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130094459 | |||||||
chr2:130094460 | C | A | 1 | a0001c0031t0002g0068 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1410-952G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130094460 | |||||||
chr2:130094464 | AC | A | 19 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(16): Show |
22 | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.1410-957delG | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130094464 | |||||||
chr2:130094631 | G | A | 1 | a0013c0014t0019g0090 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.1410-1123C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130094631 | |||||||
chr2:130094646 | C | T | 1 | a0001c0031t0002g0068 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1410-1138G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130094646 | |||||||
chr2:130094675 | A | G | 9 | a0001c0031t0002g0068 a0003c0006t0003g0075 a0003c0006t0003g0076 others(6): Show |
9 | HG02258.hp1 HG02615.hp2 HG02622.hp2 others(6): Show |
intron_variant | MODIFIER | c.1410-1167T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130094675 | |||||||
chr2:130094752 | C | T | 77 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(74): Show |
81 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(78): Show |
intron_variant | MODIFIER | c.1410-1244G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130094752 | |||||||
chr2:130094790 | AAAAAT | A | 6 | a0001c0031t0002g0068 a0009c0013t0006g0091 a0009c0013t0006g0092 others(3): Show |
6 | HG02258.hp1 HG02717.hp1 HG04115.hp2 others(3): Show |
intron_variant | MODIFIER | c.1410-1287_1410-128 others(9): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130094790 | |||||||
chr2:130094821 | A | C | 9 | a0010c0010t0004g0015 a0010c0010t0004g0016 a0011c0011t0004g0070 others(6): Show |
9 | HG02257.hp2 HG02451.hp2 HG02723.hp2 others(6): Show |
intron_variant | MODIFIER | c.1410-1313T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130094821 | |||||||
chr2:130094849 | CATA | C | 58 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(55): Show |
59 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(56): Show |
intron_variant | MODIFIER | c.1410-1344_1410-134 others(7): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130094849 | |||||||
chr2:130094855 | G | T | 2 | a0001c0031t0002g0068 a0002c0003t0001g0144 |
2 | HG02486.hp1 HG04115.hp2 |
intron_variant | MODIFIER | c.1410-1347C>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130094855 | |||||||
chr2:130094939 | G | C | 1 | a0002c0002t0001g0105 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.1410-1431C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130094939 | |||||||
chr2:130094954 | C | T | 83 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(80): Show |
87 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(84): Show |
intron_variant | MODIFIER | c.1410-1446G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130094954 | |||||||
chr2:130094998 | A | G | 1 | a0001c0001t0015g0020 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.1410-1490T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130094998 | |||||||
chr2:130095000 | A | T | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.1410-1492T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130095000 | |||||||
chr2:130095025 | C | CT | 8 | a0002c0003t0001g0128 a0002c0003t0001g0141 a0002c0003t0001g0144 others(5): Show |
8 | HG00544.hp1 HG02055.hp1 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.1410-1518dupA | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130095025 | |||||||
chr2:130095025 | CT | C | 53 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(50): Show |
54 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(51): Show |
intron_variant | MODIFIER | c.1410-1518delA | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130095025 | |||||||
chr2:130095050 | T | C | 88 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(85): Show |
92 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(89): Show |
intron_variant | MODIFIER | c.1410-1542A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130095050 | |||||||
chr2:130095090 | C | T | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.1410-1582G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130095090 | |||||||
chr2:130095312 | C | CCCATGTC others(6053): Show |
1 | a0001c0001t0002g0042 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.1410-1805_1410-180 others(6064): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130095312 | |||||||
chr2:130095312 | C | CCCATGTC others(6054): Show |
1 | a0024c0028t0002g0038 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.1410-1805_1410-180 others(6065): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130095312 | |||||||
chr2:130095312 | C | CCCATGTC others(6054): Show |
1 | a0001c0001t0002g0025 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.1410-1805_1410-180 others(6065): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130095312 | |||||||
chr2:130095312 | C | CCCATGTC others(6055): Show |
1 | a0001c0009t0002g0043 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.1410-1805_1410-180 others(6066): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130095312 | |||||||
chr2:130095312 | C | CCCATGTC others(6055): Show |
1 | a0001c0001t0002g0024 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.1410-1805_1410-180 others(6066): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130095312 | |||||||
chr2:130095312 | C | CCCATGTC others(6055): Show |
1 | a0001c0001t0016g0060 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1410-1805_1410-180 others(6066): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130095312 | |||||||
chr2:130095312 | C | CCCATGTC others(6054): Show |
1 | a0001c0001t0002g0039 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.1410-1805_1410-180 others(6065): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130095312 | |||||||
chr2:130095312 | C | CCCATGTC others(6055): Show |
3 | a0001c0001t0002g0023 a0001c0001t0002g0041 a0001c0001t0002g0044 |
3 | HG04199.hp2 NA18955.hp1 NA19065.hp2 |
intron_variant | MODIFIER | c.1410-1805_1410-180 others(6066): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130095312 | |||||||
chr2:130095312 | C | CCCATGTC others(6056): Show |
1 | a0001c0009t0002g0040 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.1410-1805_1410-180 others(6067): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130095312 | |||||||
chr2:130095312 | C | CCCATGTC others(6057): Show |
2 | a0001c0009t0002g0058 a0019c0034t0012g0045 |
2 | HG01346.hp2 HG02486.hp2 |
intron_variant | MODIFIER | c.1410-1805_1410-180 others(6068): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130095312 | |||||||
chr2:130095312 | C | CCCATGTC others(6057): Show |
1 | a0001c0035t0002g0059 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.1410-1805_1410-180 others(6068): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130095312 | |||||||
chr2:130095329 | C | T | 106 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(103): Show |
110 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(107): Show |
intron_variant | MODIFIER | c.1410-1821G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130095329 | |||||||
chr2:130095339 | A | G | 1 | a0005c0043t0001g0096 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1410-1831T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130095339 | |||||||
chr2:130095341 | C | T | 6 | a0010c0010t0004g0015 a0010c0010t0004g0016 a0011c0011t0004g0070 others(3): Show |
6 | HG02257.hp2 HG02451.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.1410-1833G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130095341 | |||||||
chr2:130095377 | T | C | 1 | a0002c0002t0001g0119 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.1410-1869A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130095377 | |||||||
chr2:130095385 | T | C | 1 | a0001c0031t0002g0068 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1410-1877A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130095385 | |||||||
chr2:130095598 | T | C | 59 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(56): Show |
60 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(57): Show |
intron_variant | MODIFIER | c.1410-2090A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130095598 | |||||||
chr2:130095613 | G | A | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.1410-2105C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130095613 | |||||||
chr2:130095614 | A | C | 1 | a0003c0004t0003g0074 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1410-2106T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130095614 | |||||||
chr2:130095618 | C | T | 6 | a0001c0031t0002g0068 a0009c0013t0006g0091 a0009c0013t0006g0092 others(3): Show |
6 | HG02258.hp1 HG02717.hp1 HG04115.hp2 others(3): Show |
intron_variant | MODIFIER | c.1410-2110G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130095618 | |||||||
chr2:130095688 | T | C | 96 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(93): Show |
100 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(97): Show |
intron_variant | MODIFIER | c.1410-2180A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130095688 | |||||||
chr2:130095824 | A | C | 1 | a0006c0008t0003g0001 | 3 | HG02257.hp1 HG02572.hp1 HG02809.hp1 |
intron_variant | MODIFIER | c.1410-2316T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130095824 | |||||||
chr2:130095904 | T | A | 6 | a0010c0010t0004g0015 a0010c0010t0004g0016 a0011c0011t0004g0070 others(3): Show |
6 | HG02257.hp2 HG02451.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.1410-2396A>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130095904 | |||||||
chr2:130095904 | T | G | 3 | a0020c0018t0008g0150 a0023c0016t0008g0151 a0030c0017t0008g0149 |
3 | HG02886.hp1 HG03225.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1410-2396A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130095904 | |||||||
chr2:130095907 | T | G | 1 | a0022c0042t0023g0156 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1410-2399A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130095907 | |||||||
chr2:130095973 | T | G | 6 | a0001c0031t0002g0068 a0009c0013t0006g0091 a0009c0013t0006g0092 others(3): Show |
6 | HG02258.hp1 HG02717.hp1 HG04115.hp2 others(3): Show |
intron_variant | MODIFIER | c.1410-2465A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130095973 | |||||||
chr2:130096001 | G | GCT | 19 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(16): Show |
22 | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.1410-2494_1410-249 others(6): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130096001 | |||||||
chr2:130096057 | G | T | 57 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(54): Show |
58 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(55): Show |
intron_variant | MODIFIER | c.1410-2549C>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130096057 | |||||||
chr2:130096060 | G | T | 3 | a0005c0012t0007g0152 a0005c0012t0007g0154 a0005c0038t0007g0153 |
3 | HG02572.hp2 HG02615.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.1410-2552C>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130096060 | |||||||
chr2:130096065 | G | C | 10 | a0001c0031t0002g0068 a0003c0006t0003g0075 a0003c0006t0003g0076 others(7): Show |
10 | HG02258.hp1 HG02615.hp2 HG02622.hp2 others(7): Show |
intron_variant | MODIFIER | c.1410-2557C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130096065 | |||||||
chr2:130096113 | T | C | 55 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(52): Show |
56 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.1410-2605A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130096113 | |||||||
chr2:130096159 | A | C | 2 | a0005c0012t0007g0152 a0005c0012t0007g0154 |
2 | HG02615.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.1410-2651T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130096159 | |||||||
chr2:130096372 | G | C | 2 | a0002c0003t0001g0126 a0002c0003t0001g0145 |
2 | HG02630.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.1410-2864C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130096372 | |||||||
chr2:130096480 | A | G | 2 | a0009c0013t0006g0091 a0009c0013t0006g0092 |
2 | HG02258.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.1410-2972T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130096480 | |||||||
chr2:130096516 | A | C | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.1409+2954T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130096516 | |||||||
chr2:130096561 | C | T | 6 | a0001c0031t0002g0068 a0009c0013t0006g0091 a0009c0013t0006g0092 others(3): Show |
6 | HG02258.hp1 HG02717.hp1 HG04115.hp2 others(3): Show |
intron_variant | MODIFIER | c.1409+2909G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130096561 | |||||||
chr2:130096664 | G | A | 19 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(16): Show |
22 | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.1409+2806C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130096664 | |||||||
chr2:130096729 | G | A | 58 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(55): Show |
59 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(56): Show |
intron_variant | MODIFIER | c.1409+2741C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130096729 | |||||||
chr2:130096773 | C | T | 6 | a0001c0031t0002g0068 a0009c0013t0006g0091 a0009c0013t0006g0092 others(3): Show |
6 | HG02258.hp1 HG02717.hp1 HG04115.hp2 others(3): Show |
intron_variant | MODIFIER | c.1409+2697G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130096773 | |||||||
chr2:130096943 | AAAAAAG | A | 82 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(79): Show |
86 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(83): Show |
intron_variant | MODIFIER | c.1409+2521_1409+252 others(10): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130096943 | |||||||
chr2:130097083 | T | A | 3 | a0020c0018t0008g0150 a0023c0016t0008g0151 a0030c0017t0008g0149 |
3 | HG02886.hp1 HG03225.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1409+2387A>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130097083 | |||||||
chr2:130097094 | G | A | 1 | a0001c0031t0002g0068 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1409+2376C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130097094 | |||||||
chr2:130097096 | A | T | 98 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(95): Show |
102 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(99): Show |
intron_variant | MODIFIER | c.1409+2374T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130097096 | |||||||
chr2:130097133 | C | T | 1 | a0001c0001t0011g0033 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1409+2337G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130097133 | |||||||
chr2:130097191 | T | C | 4 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(1): Show |
4 | HG02258.hp1 HG02717.hp1 NA20300.hp1 others(1): Show |
intron_variant | MODIFIER | c.1409+2279A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130097191 | |||||||
chr2:130097219 | A | C | 1 | a0002c0002t0001g0124 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.1409+2251T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130097219 | |||||||
chr2:130097263 | C | T | 1 | a0001c0031t0002g0068 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1409+2207G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130097263 | |||||||
chr2:130097266 | C | T | 82 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(79): Show |
86 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(83): Show |
intron_variant | MODIFIER | c.1409+2204G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130097266 | |||||||
chr2:130097268 | G | C | 1 | a0001c0031t0002g0068 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1409+2202C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130097268 | |||||||
chr2:130097280 | G | C | 4 | a0002c0003t0001g0103 a0002c0003t0001g0126 a0002c0003t0001g0145 others(1): Show |
4 | HG01891.hp2 HG02280.hp1 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.1409+2190C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130097280 | |||||||
chr2:130097420 | A | G | 4 | a0003c0006t0003g0075 a0003c0006t0003g0076 a0003c0006t0003g0077 others(1): Show |
4 | HG02615.hp2 HG02622.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.1409+2050T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130097420 | |||||||
chr2:130097455 | T | A | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1409+2015A>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130097455 | |||||||
chr2:130097547 | C | T | 1 | a0005c0043t0001g0096 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1409+1923G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130097547 | |||||||
chr2:130097603 | A | G | 2 | a0002c0002t0001g0147 a0017c0029t0004g0071 |
2 | HG02257.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.1409+1867T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130097603 | |||||||
chr2:130097676 | A | C | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1409+1794T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130097676 | |||||||
chr2:130097702 | A | G | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1409+1768T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130097702 | |||||||
chr2:130097763 | A | C | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1409+1707T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130097763 | |||||||
chr2:130097888 | C | T | 1 | a0001c0031t0002g0068 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1409+1582G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130097888 | |||||||
chr2:130097900 | G | A | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1409+1570C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130097900 | |||||||
chr2:130097950 | T | C | 6 | a0001c0031t0002g0068 a0009c0013t0006g0091 a0009c0013t0006g0092 others(3): Show |
6 | HG02258.hp1 HG02717.hp1 HG04115.hp2 others(3): Show |
intron_variant | MODIFIER | c.1409+1520A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130097950 | |||||||
chr2:130098038 | C | T | 7 | a0001c0031t0002g0068 a0009c0013t0006g0091 a0009c0013t0006g0092 others(4): Show |
7 | HG02257.hp2 HG02258.hp1 HG02717.hp1 others(4): Show |
intron_variant | MODIFIER | c.1409+1432G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130098038 | |||||||
chr2:130098106 | A | G | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1409+1364T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130098106 | |||||||
chr2:130098135 | T | G | 92 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(89): Show |
96 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(93): Show |
intron_variant | MODIFIER | c.1409+1335A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130098135 | |||||||
chr2:130098303 | T | C | 1 | a0002c0002t0001g0106 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.1409+1167A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130098303 | |||||||
chr2:130098318 | G | T | 1 | a0011c0011t0004g0070 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1409+1152C>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130098318 | |||||||
chr2:130098439 | G | A | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1409+1031C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130098439 | |||||||
chr2:130098471 | A | G | 4 | a0005c0012t0007g0152 a0005c0012t0007g0154 a0005c0038t0007g0153 others(1): Show |
4 | HG02257.hp2 HG02572.hp2 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.1409+999T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130098471 | |||||||
chr2:130098615 | A | G | 1 | a0001c0031t0002g0068 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1409+855T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130098615 | |||||||
chr2:130098633 | C | T | 1 | a0002c0002t0001g0119 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.1409+837G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130098633 | |||||||
chr2:130098693 | A | G | 63 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(60): Show |
64 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(61): Show |
intron_variant | MODIFIER | c.1409+777T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130098693 | |||||||
chr2:130098753 | C | T | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.1409+717G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130098753 | |||||||
chr2:130098779 | A | C | 1 | a0002c0002t0010g0123 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.1409+691T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130098779 | |||||||
chr2:130098785 | C | T | 1 | a0001c0001t0002g0048 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.1409+685G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130098785 | |||||||
chr2:130098834 | T | C | 18 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(15): Show |
21 | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(18): Show |
intron_variant | MODIFIER | c.1409+636A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130098834 | |||||||
chr2:130098882 | G | A | 1 | a0004c0007t0005g0011 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.1409+588C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130098882 | |||||||
chr2:130098943 | C | G | 58 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(55): Show |
59 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(56): Show |
intron_variant | MODIFIER | c.1409+527G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130098943 | |||||||
chr2:130098959 | A | G | 1 | a0002c0003t0001g0101 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.1409+511T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130098959 | |||||||
chr2:130098964 | T | A | 1 | a0002c0003t0021g0130 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.1409+506A>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130098964 | |||||||
chr2:130098977 | G | A | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1409+493C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130098977 | |||||||
chr2:130099006 | C | G | 97 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(94): Show |
101 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(98): Show |
intron_variant | MODIFIER | c.1409+464G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130099006 | |||||||
chr2:130099059 | CA | C | 98 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(95): Show |
102 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(99): Show |
intron_variant | MODIFIER | c.1409+410delT | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130099059 | |||||||
chr2:130099083 | G | A | 2 | a0003c0004t0003g0078 a0006c0008t0003g0001 |
4 | HG01891.hp1 HG02257.hp1 HG02572.hp1 others(1): Show |
intron_variant | MODIFIER | c.1409+387C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130099083 | |||||||
chr2:130099098 | C | T | 73 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(70): Show |
74 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(71): Show |
intron_variant | MODIFIER | c.1409+372G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130099098 | |||||||
chr2:130099102 | C | T | 3 | a0020c0018t0008g0150 a0023c0016t0008g0151 a0030c0017t0008g0149 |
3 | HG02886.hp1 HG03225.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1409+368G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130099102 | |||||||
chr2:130099123 | T | C | 2 | a0008c0015t0001g0100 a0008c0015t0001g0121 |
2 | HG01261.hp1 HG01515.hp1 |
intron_variant | MODIFIER | c.1409+347A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130099123 | |||||||
chr2:130099156 | A | C | 9 | a0010c0010t0004g0015 a0010c0010t0004g0016 a0011c0011t0004g0070 others(6): Show |
9 | HG02257.hp2 HG02451.hp2 HG02723.hp2 others(6): Show |
intron_variant | MODIFIER | c.1409+314T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130099156 | |||||||
chr2:130099205 | T | C | 63 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(60): Show |
64 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(61): Show |
intron_variant | MODIFIER | c.1409+265A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130099205 | |||||||
chr2:130099228 | T | G | 3 | a0020c0018t0008g0150 a0023c0016t0008g0151 a0030c0017t0008g0149 |
3 | HG02886.hp1 HG03225.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1409+242A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130099228 | |||||||
chr2:130099245 | A | G | 20 | a0001c0031t0002g0068 a0003c0004t0003g0005 a0003c0004t0003g0074 others(17): Show |
23 | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(20): Show |
intron_variant | MODIFIER | c.1409+225T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130099245 | |||||||
chr2:130099301 | C | A | 6 | a0010c0010t0004g0015 a0010c0010t0004g0016 a0011c0011t0004g0070 others(3): Show |
6 | HG02257.hp2 HG02451.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.1409+169G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130099301 | |||||||
chr2:130099351 | C | T | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1409+119G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130099351 | |||||||
chr2:130099352 | G | A | 1 | a0001c0033t0002g0036 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1409+118C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130099352 | |||||||
chr2:130099357 | A | G | 54 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(51): Show |
55 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(52): Show |
intron_variant | MODIFIER | c.1409+113T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130099357 | |||||||
chr2:130099413 | T | C | 6 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(3): Show |
6 | HG02257.hp2 HG02258.hp1 HG02717.hp1 others(3): Show |
intron_variant | MODIFIER | c.1409+57A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130099413 | |||||||
chr2:130099444 | T | C | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1409+26A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130099444 | |||||||
chr2:130099447 | A | G | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1409+23T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 11/16 | chr2 | 130099447 | |||||||
chr2:130099650 | T | C | 1 | a0025c0025t0001g0127 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.1243-14A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 10/16 | chr2 | 130099650 | |||||||
chr2:130099669 | T | A | 1 | a0021c0039t0001g0148 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1243-33A>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 10/16 | chr2 | 130099669 | |||||||
chr2:130099707 | T | C | 4 | a0004c0007t0005g0010 a0004c0007t0005g0011 a0004c0007t0005g0012 others(1): Show |
4 | HG01243.hp2 HG02559.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.1243-71A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 10/16 | chr2 | 130099707 | |||||||
chr2:130099787 | T | C | 1 | a0021c0039t0001g0148 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1243-151A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 10/16 | chr2 | 130099787 | |||||||
chr2:130099826 | A | G | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.1243-190T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 10/16 | chr2 | 130099826 | |||||||
chr2:130099968 | T | C | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1243-332A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 10/16 | chr2 | 130099968 | |||||||
chr2:130099981 | A | G | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1243-345T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 10/16 | chr2 | 130099981 | |||||||
chr2:130100019 | C | T | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1243-383G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 10/16 | chr2 | 130100019 | |||||||
chr2:130100131 | A | C | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1243-495T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 10/16 | chr2 | 130100131 | |||||||
chr2:130100172 | G | A | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1242+504C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 10/16 | chr2 | 130100172 | |||||||
chr2:130100224 | C | A | 2 | a0017c0029t0004g0071 a0021c0039t0001g0148 |
2 | HG02257.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.1242+452G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 10/16 | chr2 | 130100224 | |||||||
chr2:130100319 | T | A | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1242+357A>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 10/16 | chr2 | 130100319 | |||||||
chr2:130100345 | A | G | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1242+331T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 10/16 | chr2 | 130100345 | |||||||
chr2:130100348 | G | A | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.1242+328C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 10/16 | chr2 | 130100348 | |||||||
chr2:130100439 | C | T | 1 | a0021c0039t0001g0148 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1242+237G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 10/16 | chr2 | 130100439 | |||||||
chr2:130100451 | A | G | 4 | a0017c0029t0004g0071 a0020c0018t0008g0150 a0023c0016t0008g0151 others(1): Show |
4 | HG02257.hp2 HG02886.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.1242+225T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 10/16 | chr2 | 130100451 | |||||||
chr2:130100497 | C | G | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1242+179G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 10/16 | chr2 | 130100497 | |||||||
chr2:130100520 | T | A | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1242+156A>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 10/16 | chr2 | 130100520 | |||||||
chr2:130100561 | G | C | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1242+115C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 10/16 | chr2 | 130100561 | |||||||
chr2:130100772 | G | C | 7 | a0001c0031t0002g0068 a0009c0013t0006g0091 a0009c0013t0006g0092 others(4): Show |
7 | HG02257.hp2 HG02258.hp1 HG02717.hp1 others(4): Show |
intron_variant | MODIFIER | c.1198-52C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 9/16 | chr2 | 130100772 | |||||||
chr2:130100786 | C | T | 1 | a0001c0031t0002g0068 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1198-66G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 9/16 | chr2 | 130100786 | |||||||
chr2:130100820 | C | G | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1198-100G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 9/16 | chr2 | 130100820 | |||||||
chr2:130100825 | A | G | 1 | a0003c0005t0003g0087 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1198-105T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 9/16 | chr2 | 130100825 | |||||||
chr2:130100831 | A | G | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1198-111T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 9/16 | chr2 | 130100831 | |||||||
chr2:130100871 | TTAAA | T | 5 | a0002c0002t0001g0122 a0002c0002t0001g0124 a0002c0002t0001g0147 others(2): Show |
5 | HG00099.hp1 HG00735.hp1 HG01261.hp2 others(2): Show |
intron_variant | MODIFIER | c.1198-155_1198-152d others(6): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 9/16 | chr2 | 130100871 | |||||||
chr2:130100884 | A | C | 18 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(15): Show |
21 | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(18): Show |
intron_variant | MODIFIER | c.1198-164T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 9/16 | chr2 | 130100884 | |||||||
chr2:130100980 | T | G | 9 | a0001c0031t0002g0068 a0003c0006t0003g0079 a0005c0038t0007g0153 others(6): Show |
9 | HG02257.hp2 HG02258.hp1 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.1198-260A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 9/16 | chr2 | 130100980 | |||||||
chr2:130101009 | T | A | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.1198-289A>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 9/16 | chr2 | 130101009 | |||||||
chr2:130101012 | T | C | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1198-292A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 9/16 | chr2 | 130101012 | |||||||
chr2:130101016 | G | A | 82 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(79): Show |
86 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(83): Show |
intron_variant | MODIFIER | c.1198-296C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 9/16 | chr2 | 130101016 | |||||||
chr2:130101026 | G | C | 1 | a0022c0042t0023g0156 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1198-306C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 9/16 | chr2 | 130101026 | |||||||
chr2:130101093 | G | A | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1198-373C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 9/16 | chr2 | 130101093 | |||||||
chr2:130101096 | G | C | 89 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(86): Show |
93 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(90): Show |
intron_variant | MODIFIER | c.1198-376C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 9/16 | chr2 | 130101096 | |||||||
chr2:130101143 | T | A | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1198-423A>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 9/16 | chr2 | 130101143 | |||||||
chr2:130101226 | G | A | 1 | a0001c0001t0002g0031 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.1198-506C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 9/16 | chr2 | 130101226 | |||||||
chr2:130101262 | A | C | 2 | a0002c0002t0001g0109 a0017c0029t0004g0071 |
2 | HG01993.hp2 HG02257.hp2 |
intron_variant | MODIFIER | c.1198-542T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 9/16 | chr2 | 130101262 | |||||||
chr2:130101344 | T | C | 1 | a0021c0039t0001g0148 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1198-624A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 9/16 | chr2 | 130101344 | |||||||
chr2:130101378 | TAAC | T | 19 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(16): Show |
22 | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.1198-661_1198-659d others(5): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 9/16 | chr2 | 130101378 | |||||||
chr2:130101381 | C | T | 7 | a0001c0031t0002g0068 a0009c0013t0006g0091 a0009c0013t0006g0092 others(4): Show |
7 | HG02257.hp2 HG02258.hp1 HG02717.hp1 others(4): Show |
intron_variant | MODIFIER | c.1198-661G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 9/16 | chr2 | 130101381 | |||||||
chr2:130101529 | G | A | 1 | a0001c0031t0002g0068 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1197+581C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 9/16 | chr2 | 130101529 | |||||||
chr2:130101540 | C | T | 3 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0017c0029t0004g0071 |
3 | HG02257.hp2 HG02258.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.1197+570G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 9/16 | chr2 | 130101540 | |||||||
chr2:130101571 | G | C | 6 | a0001c0031t0002g0068 a0009c0013t0006g0091 a0009c0013t0006g0092 others(3): Show |
6 | HG02258.hp1 HG02717.hp1 HG04115.hp2 others(3): Show |
intron_variant | MODIFIER | c.1197+539C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 9/16 | chr2 | 130101571 | |||||||
chr2:130101579 | T | TCA | 6 | a0001c0031t0002g0068 a0009c0013t0006g0091 a0009c0013t0006g0092 others(3): Show |
6 | HG02258.hp1 HG02717.hp1 HG04115.hp2 others(3): Show |
intron_variant | MODIFIER | c.1197+529_1197+530d others(4): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 9/16 | chr2 | 130101579 | |||||||
chr2:130101582 | A | G | 7 | a0001c0031t0002g0068 a0009c0013t0006g0091 a0009c0013t0006g0092 others(4): Show |
7 | HG02257.hp2 HG02258.hp1 HG02717.hp1 others(4): Show |
intron_variant | MODIFIER | c.1197+528T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 9/16 | chr2 | 130101582 | |||||||
chr2:130101703 | T | C | 1 | a0001c0001t0002g0063 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1197+407A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 9/16 | chr2 | 130101703 | |||||||
chr2:130101768 | C | A | 85 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(82): Show |
89 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(86): Show |
intron_variant | MODIFIER | c.1197+342G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 9/16 | chr2 | 130101768 | |||||||
chr2:130101835 | G | A | 2 | a0001c0001t0002g0026 a0017c0029t0004g0071 |
2 | HG01515.hp2 HG02257.hp2 |
intron_variant | MODIFIER | c.1197+275C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 9/16 | chr2 | 130101835 | |||||||
chr2:130101880 | GGTT | G | 4 | a0004c0007t0005g0010 a0004c0007t0005g0011 a0004c0007t0005g0012 others(1): Show |
4 | HG01243.hp2 HG02559.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.1197+227_1197+229d others(5): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 9/16 | chr2 | 130101880 | |||||||
chr2:130102103 | T | C | 2 | a0001c0031t0002g0068 a0017c0029t0004g0071 |
2 | HG02257.hp2 HG04115.hp2 |
splice_region_variant&intron_variant | LOW | c.1197+7A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 9/16 | chr2 | 130102103 | |||||||
chr2:130102253 | T | C | 1 | a0001c0031t0002g0068 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1127-73A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130102253 | |||||||
chr2:130102302 | T | C | 2 | a0001c0001t0002g0009 a0001c0031t0002g0068 |
2 | HG00597.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.1127-122A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130102302 | |||||||
chr2:130102345 | C | T | 5 | a0003c0005t0003g0085 a0003c0005t0003g0086 a0003c0005t0003g0087 others(2): Show |
5 | HG01243.hp1 HG02055.hp1 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.1127-165G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130102345 | |||||||
chr2:130102435 | C | T | 5 | a0003c0005t0003g0085 a0003c0005t0003g0086 a0003c0005t0003g0087 others(2): Show |
5 | HG01243.hp1 HG02055.hp1 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.1127-255G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130102435 | |||||||
chr2:130102443 | G | A | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1127-263C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130102443 | |||||||
chr2:130102447 | C | A | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1127-267G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130102447 | |||||||
chr2:130102447 | C | G | 83 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(80): Show |
87 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(84): Show |
intron_variant | MODIFIER | c.1127-267G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130102447 | |||||||
chr2:130102542 | C | T | 2 | a0001c0001t0002g0044 a0017c0029t0004g0071 |
2 | HG02257.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.1127-362G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130102542 | |||||||
chr2:130102561 | T | C | 1 | a0002c0003t0001g0144 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.1127-381A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130102561 | |||||||
chr2:130102597 | G | A | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1127-417C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130102597 | |||||||
chr2:130102619 | C | T | 1 | a0001c0031t0002g0068 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1127-439G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130102619 | |||||||
chr2:130102634 | T | C | 1 | a0001c0001t0002g0037 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.1127-454A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130102634 | |||||||
chr2:130102652 | G | C | 60 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(57): Show |
61 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(58): Show |
intron_variant | MODIFIER | c.1127-472C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130102652 | |||||||
chr2:130102662 | A | C | 2 | a0003c0005t0003g0089 a0017c0029t0004g0071 |
2 | HG02055.hp1 HG02257.hp2 |
intron_variant | MODIFIER | c.1127-482T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130102662 | |||||||
chr2:130102733 | C | T | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1127-553G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130102733 | |||||||
chr2:130102738 | C | T | 96 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(93): Show |
100 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(97): Show |
intron_variant | MODIFIER | c.1127-558G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130102738 | |||||||
chr2:130102753 | A | T | 7 | a0001c0031t0002g0068 a0009c0013t0006g0091 a0009c0013t0006g0092 others(4): Show |
7 | HG02257.hp2 HG02258.hp1 HG02717.hp1 others(4): Show |
intron_variant | MODIFIER | c.1127-573T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130102753 | |||||||
chr2:130102783 | T | A | 2 | a0001c0031t0002g0068 a0017c0029t0004g0071 |
2 | HG02257.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.1127-603A>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130102783 | |||||||
chr2:130102784 | T | C | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1127-604A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130102784 | |||||||
chr2:130102852 | T | C | 1 | a0001c0031t0002g0068 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1127-672A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130102852 | |||||||
chr2:130102900 | T | C | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1127-720A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130102900 | |||||||
chr2:130102910 | T | G | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1127-730A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130102910 | |||||||
chr2:130102960 | C | T | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1127-780G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130102960 | |||||||
chr2:130102966 | C | T | 2 | a0001c0031t0002g0068 a0017c0029t0004g0071 |
2 | HG02257.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.1127-786G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130102966 | |||||||
chr2:130103059 | T | C | 89 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(86): Show |
93 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(90): Show |
intron_variant | MODIFIER | c.1127-879A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130103059 | |||||||
chr2:130103067 | T | G | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1127-887A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130103067 | |||||||
chr2:130103072 | T | G | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1127-892A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130103072 | |||||||
chr2:130103077 | C | T | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1127-897G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130103077 | |||||||
chr2:130103090 | TTTTC | T | 16 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(13): Show |
19 | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(16): Show |
intron_variant | MODIFIER | c.1127-914_1127-911d others(6): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130103090 | |||||||
chr2:130103098 | CTTTCTTT others(3): Show |
C | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1127-928_1127-919d others(12): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130103098 | |||||||
chr2:130103102 | C | T | 1 | a0001c0031t0002g0068 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1127-922G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130103102 | |||||||
chr2:130103102 | CTTTT | C | 54 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(51): Show |
55 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(52): Show |
intron_variant | MODIFIER | c.1127-926_1127-923d others(6): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130103102 | |||||||
chr2:130103153 | T | C | 2 | a0004c0007t0005g0010 a0004c0007t0005g0011 |
2 | HG03195.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.1127-973A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130103153 | |||||||
chr2:130103160 | G | T | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1127-980C>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130103160 | |||||||
chr2:130103162 | G | A | 1 | a0002c0003t0001g0101 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.1127-982C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130103162 | |||||||
chr2:130103251 | T | C | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1127-1071A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130103251 | |||||||
chr2:130103259 | T | G | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1127-1079A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130103259 | |||||||
chr2:130103264 | A | T | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1127-1084T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130103264 | |||||||
chr2:130103275 | G | A | 1 | a0001c0031t0002g0068 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1127-1095C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130103275 | |||||||
chr2:130103275 | G | C | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.1127-1095C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130103275 | |||||||
chr2:130103291 | C | T | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1127-1111G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130103291 | |||||||
chr2:130103301 | C | G | 5 | a0002c0002t0001g0122 a0002c0002t0001g0124 a0002c0002t0001g0147 others(2): Show |
5 | HG00099.hp1 HG00735.hp1 HG01261.hp2 others(2): Show |
intron_variant | MODIFIER | c.1127-1121G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130103301 | |||||||
chr2:130103311 | T | C | 1 | a0001c0031t0002g0068 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1127-1131A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130103311 | |||||||
chr2:130103395 | G | A | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1127-1215C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130103395 | |||||||
chr2:130103395 | G | C | 1 | a0019c0034t0012g0045 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.1127-1215C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130103395 | |||||||
chr2:130103403 | A | T | 2 | a0001c0031t0002g0068 a0017c0029t0004g0071 |
2 | HG02257.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.1127-1223T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130103403 | |||||||
chr2:130103472 | G | A | 1 | a0022c0042t0023g0156 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1127-1292C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130103472 | |||||||
chr2:130103540 | G | C | 84 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(81): Show |
88 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(85): Show |
intron_variant | MODIFIER | c.1127-1360C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130103540 | |||||||
chr2:130103543 | C | A | 1 | a0029c0044t0018g0073 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.1127-1363G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130103543 | |||||||
chr2:130103568 | G | A | 3 | a0005c0012t0007g0152 a0005c0012t0007g0154 a0005c0038t0007g0153 |
3 | HG02572.hp2 HG02615.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.1127-1388C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130103568 | |||||||
chr2:130103599 | A | C | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1127-1419T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130103599 | |||||||
chr2:130103600 | G | A | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1127-1420C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130103600 | |||||||
chr2:130103644 | C | T | 3 | a0005c0012t0007g0152 a0005c0012t0007g0154 a0005c0038t0007g0153 |
3 | HG02572.hp2 HG02615.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.1127-1464G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130103644 | |||||||
chr2:130103658 | T | C | 2 | a0001c0031t0002g0068 a0017c0029t0004g0071 |
2 | HG02257.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.1127-1478A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130103658 | |||||||
chr2:130103679 | G | C | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1127-1499C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130103679 | |||||||
chr2:130103767 | G | A | 1 | a0001c0001t0002g0057 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.1127-1587C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130103767 | |||||||
chr2:130103783 | G | A | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.1127-1603C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130103783 | |||||||
chr2:130103800 | G | A | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1127-1620C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130103800 | |||||||
chr2:130103828 | A | T | 1 | a0001c0001t0015g0020 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.1127-1648T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130103828 | |||||||
chr2:130103833 | G | C | 3 | a0003c0006t0003g0075 a0003c0006t0003g0076 a0003c0006t0003g0077 |
3 | HG02615.hp2 HG02622.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1127-1653C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130103833 | |||||||
chr2:130103839 | G | A | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1127-1659C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130103839 | |||||||
chr2:130103856 | G | A | 2 | a0001c0031t0002g0068 a0006c0008t0003g0001 |
4 | HG02257.hp1 HG02572.hp1 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.1127-1676C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130103856 | |||||||
chr2:130103856 | G | C | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1127-1676C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130103856 | |||||||
chr2:130103876 | T | C | 5 | a0003c0005t0003g0085 a0003c0005t0003g0086 a0003c0005t0003g0087 others(2): Show |
5 | HG01243.hp1 HG02055.hp1 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.1127-1696A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130103876 | |||||||
chr2:130103974 | A | G | 1 | a0001c0031t0002g0068 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1127-1794T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130103974 | |||||||
chr2:130104007 | T | A | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1127-1827A>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130104007 | |||||||
chr2:130104046 | T | C | 1 | a0001c0001t0002g0046 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1127-1866A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130104046 | |||||||
chr2:130104053 | C | T | 1 | a0001c0031t0002g0068 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1127-1873G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130104053 | |||||||
chr2:130104070 | C | G | 2 | a0001c0031t0002g0068 a0017c0029t0004g0071 |
2 | HG02257.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.1127-1890G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130104070 | |||||||
chr2:130104076 | A | C | 2 | a0001c0031t0002g0068 a0017c0029t0004g0071 |
2 | HG02257.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.1127-1896T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130104076 | |||||||
chr2:130104084 | A | G | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.1127-1904T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130104084 | |||||||
chr2:130104118 | G | C | 8 | a0001c0031t0002g0068 a0009c0013t0006g0091 a0009c0013t0006g0092 others(5): Show |
8 | HG02257.hp2 HG02258.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.1127-1938C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130104118 | |||||||
chr2:130104143 | T | A | 2 | a0001c0031t0002g0068 a0017c0029t0004g0071 |
2 | HG02257.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.1127-1963A>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130104143 | |||||||
chr2:130104237 | C | A | 6 | a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0053 others(3): Show |
6 | HG00673.hp2 HG02027.hp1 HG02257.hp2 others(3): Show |
intron_variant | MODIFIER | c.1127-2057G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130104237 | |||||||
chr2:130104461 | T | G | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.1127-2281A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130104461 | |||||||
chr2:130104464 | T | G | 1 | a0007c0026t0001g0143 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.1127-2284A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130104464 | |||||||
chr2:130104564 | C | T | 2 | a0001c0031t0002g0068 a0017c0029t0004g0071 |
2 | HG02257.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.1127-2384G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130104564 | |||||||
chr2:130104565 | A | G | 2 | a0001c0031t0002g0068 a0017c0029t0004g0071 |
2 | HG02257.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.1127-2385T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130104565 | |||||||
chr2:130104651 | C | T | 2 | a0001c0031t0002g0068 a0017c0029t0004g0071 |
2 | HG02257.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.1127-2471G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130104651 | |||||||
chr2:130104717 | A | G | 94 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(91): Show |
98 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(95): Show |
intron_variant | MODIFIER | c.1127-2537T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130104717 | |||||||
chr2:130104730 | G | A | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1127-2550C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130104730 | |||||||
chr2:130104752 | G | T | 3 | a0005c0012t0007g0152 a0005c0012t0007g0154 a0005c0038t0007g0153 |
3 | HG02572.hp2 HG02615.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.1127-2572C>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130104752 | |||||||
chr2:130104833 | T | C | 9 | a0004c0007t0005g0010 a0004c0007t0005g0011 a0004c0007t0005g0012 others(6): Show |
9 | HG01243.hp2 HG02451.hp2 HG02559.hp1 others(6): Show |
intron_variant | MODIFIER | c.1127-2653A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130104833 | |||||||
chr2:130104843 | G | C | 1 | a0001c0001t0002g0044 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.1127-2663C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130104843 | |||||||
chr2:130104920 | T | C | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1127-2740A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130104920 | |||||||
chr2:130104953 | G | A | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1127-2773C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130104953 | |||||||
chr2:130104958 | T | C | 1 | a0005c0012t0007g0154 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.1127-2778A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130104958 | |||||||
chr2:130105005 | T | G | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1127-2825A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130105005 | |||||||
chr2:130105032 | G | T | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1127-2852C>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130105032 | |||||||
chr2:130105039 | C | T | 2 | a0003c0005t0003g0086 a0003c0005t0003g0088 |
2 | HG02451.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1127-2859G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130105039 | |||||||
chr2:130105051 | A | C | 1 | a0002c0003t0001g0141 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1127-2871T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130105051 | |||||||
chr2:130105110 | C | G | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1126+2899G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130105110 | |||||||
chr2:130105112 | T | C | 69 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(66): Show |
70 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(67): Show |
intron_variant | MODIFIER | c.1126+2897A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130105112 | |||||||
chr2:130105128 | C | T | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1126+2881G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130105128 | |||||||
chr2:130105150 | C | T | 1 | a0009c0013t0006g0091 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1126+2859G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130105150 | |||||||
chr2:130105151 | T | G | 93 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(90): Show |
97 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(94): Show |
intron_variant | MODIFIER | c.1126+2858A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130105151 | |||||||
chr2:130105159 | G | A | 1 | a0001c0001t0002g0065 | 1 | NA19082.hp2 | intron_variant | MODIFIER | c.1126+2850C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130105159 | |||||||
chr2:130105166 | C | T | 1 | a0002c0003t0001g0141 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1126+2843G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130105166 | |||||||
chr2:130105260 | A | G | 1 | a0001c0031t0002g0068 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1126+2749T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130105260 | |||||||
chr2:130105390 | T | C | 19 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(16): Show |
22 | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.1126+2619A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130105390 | |||||||
chr2:130105428 | G | A | 1 | a0001c0031t0002g0068 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1126+2581C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130105428 | |||||||
chr2:130105440 | G | A | 2 | a0003c0004t0003g0080 a0017c0029t0004g0071 |
2 | HG02257.hp2 HG02280.hp2 |
intron_variant | MODIFIER | c.1126+2569C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130105440 | |||||||
chr2:130105472 | T | G | 2 | a0001c0031t0002g0068 a0017c0029t0004g0071 |
2 | HG02257.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.1126+2537A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130105472 | |||||||
chr2:130105532 | C | A | 2 | a0001c0031t0002g0068 a0022c0042t0023g0156 |
2 | HG03209.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.1126+2477G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130105532 | |||||||
chr2:130105536 | T | C | 2 | a0005c0012t0007g0152 a0005c0012t0007g0154 |
2 | HG02615.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.1126+2473A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130105536 | |||||||
chr2:130105539 | C | T | 3 | a0001c0031t0002g0068 a0017c0029t0004g0071 a0022c0042t0023g0156 |
3 | HG02257.hp2 HG03209.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.1126+2470G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130105539 | |||||||
chr2:130105631 | G | T | 1 | a0003c0005t0003g0085 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1126+2378C>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130105631 | |||||||
chr2:130105671 | T | C | 1 | a0002c0003t0001g0131 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.1126+2338A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130105671 | |||||||
chr2:130105710 | G | A | 1 | a0001c0031t0002g0068 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1126+2299C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130105710 | |||||||
chr2:130105786 | C | A | 2 | a0003c0004t0003g0078 a0013c0014t0019g0090 |
2 | HG01891.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.1126+2223G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130105786 | |||||||
chr2:130105843 | A | G | 4 | a0003c0006t0003g0075 a0003c0006t0003g0076 a0003c0006t0003g0077 others(1): Show |
4 | HG02615.hp2 HG02622.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.1126+2166T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130105843 | |||||||
chr2:130105971 | G | C | 1 | a0001c0001t0002g0046 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1126+2038C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130105971 | |||||||
chr2:130105986 | G | A | 5 | a0003c0006t0003g0075 a0003c0006t0003g0076 a0003c0006t0003g0077 others(2): Show |
5 | HG02257.hp2 HG02615.hp2 HG02622.hp2 others(2): Show |
intron_variant | MODIFIER | c.1126+2023C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130105986 | |||||||
chr2:130106007 | T | C | 5 | a0003c0006t0003g0075 a0003c0006t0003g0076 a0003c0006t0003g0077 others(2): Show |
5 | HG02257.hp2 HG02615.hp2 HG02622.hp2 others(2): Show |
intron_variant | MODIFIER | c.1126+2002A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130106007 | |||||||
chr2:130106069 | G | A | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.1126+1940C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130106069 | |||||||
chr2:130106089 | A | T | 2 | a0002c0003t0001g0129 a0002c0003t0021g0130 |
2 | HG02027.hp2 NA19082.hp1 |
intron_variant | MODIFIER | c.1126+1920T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130106089 | |||||||
chr2:130106148 | T | C | 5 | a0003c0006t0003g0075 a0003c0006t0003g0076 a0003c0006t0003g0077 others(2): Show |
5 | HG02257.hp2 HG02615.hp2 HG02622.hp2 others(2): Show |
intron_variant | MODIFIER | c.1126+1861A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130106148 | |||||||
chr2:130106195 | T | A | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1126+1814A>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130106195 | |||||||
chr2:130106220 | C | T | 5 | a0003c0006t0003g0075 a0003c0006t0003g0076 a0003c0006t0003g0077 others(2): Show |
5 | HG02257.hp2 HG02615.hp2 HG02622.hp2 others(2): Show |
intron_variant | MODIFIER | c.1126+1789G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130106220 | |||||||
chr2:130106233 | C | T | 1 | a0003c0006t0003g0075 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1126+1776G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130106233 | |||||||
chr2:130106273 | A | G | 5 | a0003c0006t0003g0075 a0003c0006t0003g0076 a0003c0006t0003g0077 others(2): Show |
5 | HG02257.hp2 HG02615.hp2 HG02622.hp2 others(2): Show |
intron_variant | MODIFIER | c.1126+1736T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130106273 | |||||||
chr2:130106312 | T | C | 5 | a0003c0006t0003g0075 a0003c0006t0003g0076 a0003c0006t0003g0077 others(2): Show |
5 | HG02257.hp2 HG02615.hp2 HG02622.hp2 others(2): Show |
intron_variant | MODIFIER | c.1126+1697A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130106312 | |||||||
chr2:130106331 | C | A | 5 | a0003c0006t0003g0075 a0003c0006t0003g0076 a0003c0006t0003g0077 others(2): Show |
5 | HG02257.hp2 HG02615.hp2 HG02622.hp2 others(2): Show |
intron_variant | MODIFIER | c.1126+1678G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130106331 | |||||||
chr2:130106334 | T | C | 7 | a0002c0003t0001g0101 a0002c0003t0001g0103 a0002c0003t0001g0126 others(4): Show |
7 | HG01891.hp2 HG02145.hp2 HG02280.hp1 others(4): Show |
intron_variant | MODIFIER | c.1126+1675A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130106334 | |||||||
chr2:130106367 | T | C | 2 | a0011c0011t0017g0072 a0017c0029t0004g0071 |
2 | HG02257.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.1126+1642A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130106367 | |||||||
chr2:130106375 | C | T | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1126+1634G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130106375 | |||||||
chr2:130106379 | C | G | 5 | a0003c0006t0003g0075 a0003c0006t0003g0076 a0003c0006t0003g0077 others(2): Show |
5 | HG02257.hp2 HG02615.hp2 HG02622.hp2 others(2): Show |
intron_variant | MODIFIER | c.1126+1630G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130106379 | |||||||
chr2:130106385 | A | T | 5 | a0003c0006t0003g0075 a0003c0006t0003g0076 a0003c0006t0003g0077 others(2): Show |
5 | HG02257.hp2 HG02615.hp2 HG02622.hp2 others(2): Show |
intron_variant | MODIFIER | c.1126+1624T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130106385 | |||||||
chr2:130106464 | C | T | 9 | a0004c0007t0005g0010 a0004c0007t0005g0011 a0004c0007t0005g0012 others(6): Show |
9 | HG01243.hp2 HG02451.hp2 HG02559.hp1 others(6): Show |
intron_variant | MODIFIER | c.1126+1545G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130106464 | |||||||
chr2:130106516 | C | T | 3 | a0020c0018t0008g0150 a0023c0016t0008g0151 a0030c0017t0008g0149 |
3 | HG02886.hp1 HG03225.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1126+1493G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130106516 | |||||||
chr2:130106524 | C | T | 1 | a0002c0002t0001g0112 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.1126+1485G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130106524 | |||||||
chr2:130106622 | C | T | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1126+1387G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130106622 | |||||||
chr2:130106639 | TCATCA | T | 10 | a0003c0005t0003g0085 a0003c0005t0003g0086 a0003c0005t0003g0087 others(7): Show |
10 | HG01243.hp1 HG02055.hp1 HG02257.hp2 others(7): Show |
intron_variant | MODIFIER | c.1126+1365_1126+136 others(9): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130106639 | |||||||
chr2:130106691 | C | T | 1 | a0002c0003t0001g0128 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.1126+1318G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130106691 | |||||||
chr2:130106751 | A | G | 5 | a0003c0005t0003g0085 a0003c0005t0003g0086 a0003c0005t0003g0087 others(2): Show |
5 | HG01243.hp1 HG02055.hp1 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.1126+1258T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130106751 | |||||||
chr2:130106761 | C | G | 5 | a0003c0005t0003g0085 a0003c0005t0003g0086 a0003c0005t0003g0087 others(2): Show |
5 | HG01243.hp1 HG02055.hp1 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.1126+1248G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130106761 | |||||||
chr2:130106780 | T | G | 5 | a0001c0001t0002g0050 a0002c0002t0001g0098 a0020c0018t0008g0150 others(2): Show |
5 | HG02886.hp1 HG02897.hp1 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.1126+1229A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130106780 | |||||||
chr2:130106791 | T | C | 6 | a0001c0001t0002g0050 a0003c0005t0003g0085 a0003c0005t0003g0086 others(3): Show |
6 | HG01243.hp1 HG02055.hp1 HG02451.hp1 others(3): Show |
intron_variant | MODIFIER | c.1126+1218A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130106791 | |||||||
chr2:130106822 | T | C | 5 | a0003c0005t0003g0085 a0003c0005t0003g0086 a0003c0005t0003g0087 others(2): Show |
5 | HG01243.hp1 HG02055.hp1 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.1126+1187A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130106822 | |||||||
chr2:130106878 | A | C | 6 | a0003c0005t0003g0085 a0003c0005t0003g0086 a0003c0005t0003g0087 others(3): Show |
6 | HG01243.hp1 HG02055.hp1 HG02257.hp2 others(3): Show |
intron_variant | MODIFIER | c.1126+1131T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130106878 | |||||||
chr2:130106909 | G | C | 1 | a0021c0039t0001g0148 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1126+1100C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130106909 | |||||||
chr2:130106989 | A | G | 5 | a0003c0005t0003g0085 a0003c0005t0003g0086 a0003c0005t0003g0087 others(2): Show |
5 | HG01243.hp1 HG02055.hp1 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.1126+1020T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130106989 | |||||||
chr2:130107033 | A | G | 6 | a0003c0005t0003g0085 a0003c0005t0003g0086 a0003c0005t0003g0087 others(3): Show |
6 | HG01243.hp1 HG02055.hp1 HG02257.hp2 others(3): Show |
intron_variant | MODIFIER | c.1126+976T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130107033 | |||||||
chr2:130107054 | C | T | 98 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(95): Show |
102 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(99): Show |
intron_variant | MODIFIER | c.1126+955G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130107054 | |||||||
chr2:130107066 | A | T | 6 | a0003c0005t0003g0085 a0003c0005t0003g0086 a0003c0005t0003g0087 others(3): Show |
6 | HG01243.hp1 HG02055.hp1 HG02257.hp2 others(3): Show |
intron_variant | MODIFIER | c.1126+943T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130107066 | |||||||
chr2:130107106 | G | A | 56 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(53): Show |
57 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(54): Show |
intron_variant | MODIFIER | c.1126+903C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130107106 | |||||||
chr2:130107119 | C | T | 80 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(77): Show |
84 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(81): Show |
intron_variant | MODIFIER | c.1126+890G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130107119 | |||||||
chr2:130107225 | C | G | 1 | a0001c0001t0011g0033 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1126+784G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130107225 | |||||||
chr2:130107267 | A | G | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1126+742T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130107267 | |||||||
chr2:130107297 | A | G | 1 | a0003c0004t0003g0074 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1126+712T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130107297 | |||||||
chr2:130107336 | G | A | 5 | a0003c0005t0003g0085 a0003c0005t0003g0086 a0003c0005t0003g0087 others(2): Show |
5 | HG01243.hp1 HG02055.hp1 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.1126+673C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130107336 | |||||||
chr2:130107348 | A | C | 6 | a0003c0005t0003g0085 a0003c0005t0003g0086 a0003c0005t0003g0087 others(3): Show |
6 | HG01243.hp1 HG02055.hp1 HG02257.hp2 others(3): Show |
intron_variant | MODIFIER | c.1126+661T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130107348 | |||||||
chr2:130107478 | G | C | 7 | a0003c0005t0003g0085 a0003c0005t0003g0086 a0003c0005t0003g0087 others(4): Show |
7 | HG01243.hp1 HG02055.hp1 HG02257.hp2 others(4): Show |
intron_variant | MODIFIER | c.1126+531C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130107478 | |||||||
chr2:130107577 | T | C | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1126+432A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130107577 | |||||||
chr2:130107583 | C | T | 3 | a0020c0018t0008g0150 a0023c0016t0008g0151 a0030c0017t0008g0149 |
3 | HG02886.hp1 HG03225.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1126+426G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130107583 | |||||||
chr2:130107589 | T | C | 13 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(10): Show |
16 | HG01891.hp1 HG02145.hp1 HG02257.hp1 others(13): Show |
intron_variant | MODIFIER | c.1126+420A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130107589 | |||||||
chr2:130107593 | A | C | 6 | a0003c0005t0003g0085 a0003c0005t0003g0086 a0003c0005t0003g0087 others(3): Show |
6 | HG01243.hp1 HG02055.hp1 HG02257.hp2 others(3): Show |
intron_variant | MODIFIER | c.1126+416T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130107593 | |||||||
chr2:130107598 | C | G | 6 | a0003c0005t0003g0085 a0003c0005t0003g0086 a0003c0005t0003g0087 others(3): Show |
6 | HG01243.hp1 HG02055.hp1 HG02257.hp2 others(3): Show |
intron_variant | MODIFIER | c.1126+411G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130107598 | |||||||
chr2:130107612 | G | T | 1 | a0003c0004t0003g0081 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.1126+397C>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130107612 | |||||||
chr2:130107652 | AC | A | 6 | a0003c0005t0003g0085 a0003c0005t0003g0086 a0003c0005t0003g0087 others(3): Show |
6 | HG01243.hp1 HG02055.hp1 HG02257.hp2 others(3): Show |
intron_variant | MODIFIER | c.1126+356delG | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130107652 | |||||||
chr2:130107690 | T | C | 3 | a0020c0018t0008g0150 a0023c0016t0008g0151 a0030c0017t0008g0149 |
3 | HG02886.hp1 HG03225.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1126+319A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130107690 | |||||||
chr2:130107698 | G | A | 1 | a0002c0002t0001g0146 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.1126+311C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130107698 | |||||||
chr2:130107698 | G | C | 1 | a0001c0001t0002g0017 | 1 | NA18989.hp2 | intron_variant | MODIFIER | c.1126+311C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130107698 | |||||||
chr2:130107726 | T | C | 1 | a0002c0003t0021g0130 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.1126+283A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130107726 | |||||||
chr2:130107775 | A | G | 5 | a0003c0005t0003g0085 a0003c0005t0003g0086 a0003c0005t0003g0087 others(2): Show |
5 | HG01243.hp1 HG02055.hp1 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.1126+234T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130107775 | |||||||
chr2:130107775 | A | T | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1126+234T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130107775 | |||||||
chr2:130107816 | A | G | 6 | a0003c0005t0003g0085 a0003c0005t0003g0086 a0003c0005t0003g0087 others(3): Show |
6 | HG01243.hp1 HG02055.hp1 HG02257.hp2 others(3): Show |
intron_variant | MODIFIER | c.1126+193T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130107816 | |||||||
chr2:130107908 | C | T | 6 | a0003c0005t0003g0085 a0003c0005t0003g0086 a0003c0005t0003g0087 others(3): Show |
6 | HG01243.hp1 HG02055.hp1 HG02257.hp2 others(3): Show |
intron_variant | MODIFIER | c.1126+101G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130107908 | |||||||
chr2:130107965 | A | G | 6 | a0003c0005t0003g0085 a0003c0005t0003g0086 a0003c0005t0003g0087 others(3): Show |
6 | HG01243.hp1 HG02055.hp1 HG02257.hp2 others(3): Show |
intron_variant | MODIFIER | c.1126+44T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 8/16 | chr2 | 130107965 | |||||||
chr2:130108134 | A | T | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1056-55T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130108134 | |||||||
chr2:130108146 | T | C | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1056-67A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130108146 | |||||||
chr2:130108183 | A | T | 6 | a0003c0005t0003g0085 a0003c0005t0003g0086 a0003c0005t0003g0087 others(3): Show |
6 | HG01243.hp1 HG02055.hp1 HG02257.hp2 others(3): Show |
intron_variant | MODIFIER | c.1056-104T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130108183 | |||||||
chr2:130108194 | T | C | 1 | a0001c0001t0002g0062 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.1056-115A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130108194 | |||||||
chr2:130108207 | C | T | 6 | a0003c0005t0003g0085 a0003c0005t0003g0086 a0003c0005t0003g0087 others(3): Show |
6 | HG01243.hp1 HG02055.hp1 HG02257.hp2 others(3): Show |
intron_variant | MODIFIER | c.1056-128G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130108207 | |||||||
chr2:130108214 | G | A | 6 | a0003c0005t0003g0085 a0003c0005t0003g0086 a0003c0005t0003g0087 others(3): Show |
6 | HG01243.hp1 HG02055.hp1 HG02257.hp2 others(3): Show |
intron_variant | MODIFIER | c.1056-135C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130108214 | |||||||
chr2:130108258 | A | C | 6 | a0003c0005t0003g0085 a0003c0005t0003g0086 a0003c0005t0003g0087 others(3): Show |
6 | HG01243.hp1 HG02055.hp1 HG02257.hp2 others(3): Show |
intron_variant | MODIFIER | c.1056-179T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130108258 | |||||||
chr2:130108281 | G | C | 6 | a0003c0005t0003g0085 a0003c0005t0003g0086 a0003c0005t0003g0087 others(3): Show |
6 | HG01243.hp1 HG02055.hp1 HG02257.hp2 others(3): Show |
intron_variant | MODIFIER | c.1056-202C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130108281 | |||||||
chr2:130108291 | G | A | 7 | a0001c0001t0002g0062 a0003c0005t0003g0085 a0003c0005t0003g0086 others(4): Show |
7 | HG01074.hp1 HG01243.hp1 HG02055.hp1 others(4): Show |
intron_variant | MODIFIER | c.1056-212C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130108291 | |||||||
chr2:130108300 | G | A | 1 | a0031c0020t0014g0018 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1056-221C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130108300 | |||||||
chr2:130108326 | G | A | 6 | a0002c0003t0001g0126 a0009c0013t0006g0091 a0009c0013t0006g0092 others(3): Show |
6 | HG02258.hp1 HG02630.hp1 HG02717.hp1 others(3): Show |
intron_variant | MODIFIER | c.1056-247C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130108326 | |||||||
chr2:130108330 | G | T | 1 | a0003c0004t0003g0080 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1056-251C>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130108330 | |||||||
chr2:130108358 | A | G | 1 | a0031c0020t0014g0018 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1056-279T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130108358 | |||||||
chr2:130108398 | A | G | 5 | a0003c0005t0003g0085 a0003c0005t0003g0086 a0003c0005t0003g0087 others(2): Show |
5 | HG01243.hp1 HG02055.hp1 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.1056-319T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130108398 | |||||||
chr2:130108406 | C | T | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1056-327G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130108406 | |||||||
chr2:130108588 | A | G | 1 | a0022c0042t0023g0156 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1056-509T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130108588 | |||||||
chr2:130108672 | G | T | 9 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(6): Show |
12 | HG01891.hp1 HG02145.hp1 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.1056-593C>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130108672 | |||||||
chr2:130108763 | A | C | 3 | a0020c0018t0008g0150 a0023c0016t0008g0151 a0030c0017t0008g0149 |
3 | HG02886.hp1 HG03225.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1056-684T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130108763 | |||||||
chr2:130108765 | T | C | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.1056-686A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130108765 | |||||||
chr2:130108779 | A | C | 3 | a0020c0018t0008g0150 a0023c0016t0008g0151 a0030c0017t0008g0149 |
3 | HG02886.hp1 HG03225.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1056-700T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130108779 | |||||||
chr2:130108819 | A | G | 2 | a0003c0004t0003g0078 a0006c0008t0003g0001 |
4 | HG01891.hp1 HG02257.hp1 HG02572.hp1 others(1): Show |
intron_variant | MODIFIER | c.1056-740T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130108819 | |||||||
chr2:130108861 | C | A | 48 | a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0006 others(45): Show |
53 | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(50): Show |
intron_variant | MODIFIER | c.1056-782G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130108861 | |||||||
chr2:130108954 | T | C | 84 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(81): Show |
88 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(85): Show |
intron_variant | MODIFIER | c.1056-875A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130108954 | |||||||
chr2:130108961 | T | A | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1056-882A>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130108961 | |||||||
chr2:130108987 | A | G | 1 | a0012c0041t0001g0097 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1056-908T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130108987 | |||||||
chr2:130109037 | G | C | 90 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(87): Show |
94 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(91): Show |
intron_variant | MODIFIER | c.1056-958C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130109037 | |||||||
chr2:130109053 | C | G | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1056-974G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130109053 | |||||||
chr2:130109056 | A | T | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1056-977T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130109056 | |||||||
chr2:130109099 | C | G | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1056-1020G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130109099 | |||||||
chr2:130109152 | T | A | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1056-1073A>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130109152 | |||||||
chr2:130109158 | C | T | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1056-1079G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130109158 | |||||||
chr2:130109232 | C | G | 81 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(78): Show |
85 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(82): Show |
intron_variant | MODIFIER | c.1056-1153G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130109232 | |||||||
chr2:130109328 | T | C | 99 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(96): Show |
103 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(100): Show |
intron_variant | MODIFIER | c.1055+1215A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130109328 | |||||||
chr2:130109367 | G | T | 2 | a0002c0002t0001g0110 a0017c0029t0004g0071 |
2 | HG02257.hp2 HG03834.hp1 |
intron_variant | MODIFIER | c.1055+1176C>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130109367 | |||||||
chr2:130109441 | C | T | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1055+1102G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130109441 | |||||||
chr2:130109458 | G | C | 3 | a0020c0018t0008g0150 a0023c0016t0008g0151 a0030c0017t0008g0149 |
3 | HG02886.hp1 HG03225.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1055+1085C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130109458 | |||||||
chr2:130109473 | C | G | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1055+1070G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130109473 | |||||||
chr2:130109474 | C | G | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1055+1069G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130109474 | |||||||
chr2:130109477 | T | C | 99 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(96): Show |
103 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(100): Show |
intron_variant | MODIFIER | c.1055+1066A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130109477 | |||||||
chr2:130109501 | G | A | 1 | a0002c0002t0001g0119 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.1055+1042C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130109501 | |||||||
chr2:130109545 | C | G | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1055+998G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130109545 | |||||||
chr2:130109556 | C | T | 20 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(17): Show |
23 | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(20): Show |
intron_variant | MODIFIER | c.1055+987G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130109556 | |||||||
chr2:130109628 | G | A | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1055+915C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130109628 | |||||||
chr2:130109635 | G | A | 98 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(95): Show |
102 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(99): Show |
intron_variant | MODIFIER | c.1055+908C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130109635 | |||||||
chr2:130109643 | C | T | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1055+900G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130109643 | |||||||
chr2:130109647 | C | T | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1055+896G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130109647 | |||||||
chr2:130109657 | A | G | 1 | a0022c0042t0023g0156 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1055+886T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130109657 | |||||||
chr2:130109699 | C | T | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1055+844G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130109699 | |||||||
chr2:130109706 | C | T | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1055+837G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130109706 | |||||||
chr2:130109805 | C | T | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1055+738G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130109805 | |||||||
chr2:130109836 | C | T | 1 | a0002c0003t0009g0140 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.1055+707G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130109836 | |||||||
chr2:130109848 | G | A | 2 | a0007c0026t0001g0143 a0017c0029t0004g0071 |
2 | HG02257.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.1055+695C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130109848 | |||||||
chr2:130109939 | C | G | 3 | a0005c0012t0007g0152 a0005c0012t0007g0154 a0005c0038t0007g0153 |
3 | HG02572.hp2 HG02615.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.1055+604G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130109939 | |||||||
chr2:130109969 | G | T | 18 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(15): Show |
21 | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(18): Show |
intron_variant | MODIFIER | c.1055+574C>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130109969 | |||||||
chr2:130110122 | G | A | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1055+421C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130110122 | |||||||
chr2:130110126 | T | C | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1055+417A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130110126 | |||||||
chr2:130110153 | G | A | 1 | a0003c0004t0003g0083 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1055+390C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130110153 | |||||||
chr2:130110160 | G | C | 1 | a0007c0026t0001g0143 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.1055+383C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130110160 | |||||||
chr2:130110169 | C | G | 3 | a0001c0001t0002g0063 a0001c0033t0002g0036 a0017c0029t0004g0071 |
3 | HG02055.hp2 HG02257.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1055+374G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130110169 | |||||||
chr2:130110428 | C | T | 1 | a0013c0014t0019g0090 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.1055+115G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130110428 | |||||||
chr2:130110451 | T | C | 1 | a0005c0038t0007g0153 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.1055+92A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130110451 | |||||||
chr2:130110460 | T | A | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.1055+83A>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130110460 | |||||||
chr2:130110473 | G | A | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1055+70C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130110473 | |||||||
chr2:130110533 | A | G | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1055+10T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 7/16 | chr2 | 130110533 | |||||||
chr2:130110694 | G | A | 2 | a0003c0004t0003g0082 a0016c0019t0003g0084 |
2 | HG02145.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.918-14C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130110694 | |||||||
chr2:130110763 | T | C | 1 | a0001c0001t0002g0024 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.918-83A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130110763 | |||||||
chr2:130110807 | A | T | 115 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(112): Show |
119 | HG00099.hp2 HG00544.hp1 HG00544.hp2 others(116): Show |
intron_variant | MODIFIER | c.918-127T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130110807 | |||||||
chr2:130110809 | C | T | 3 | a0005c0012t0007g0152 a0005c0012t0007g0154 a0017c0029t0004g0071 |
3 | HG02257.hp2 HG02615.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.918-129G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130110809 | |||||||
chr2:130110840 | G | A | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.918-160C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130110840 | |||||||
chr2:130110845 | C | A | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.918-165G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130110845 | |||||||
chr2:130110921 | A | C | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.918-241T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130110921 | |||||||
chr2:130110922 | G | A | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.918-242C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130110922 | |||||||
chr2:130110932 | G | A | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.918-252C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130110932 | |||||||
chr2:130110965 | G | A | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.918-285C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130110965 | |||||||
chr2:130110975 | G | C | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.918-295C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130110975 | |||||||
chr2:130110989 | T | G | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.918-309A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130110989 | |||||||
chr2:130111011 | T | A | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.918-331A>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111011 | |||||||
chr2:130111014 | C | T | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.918-334G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111014 | |||||||
chr2:130111021 | T | C | 1 | a0022c0042t0023g0156 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.918-341A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111021 | |||||||
chr2:130111085 | T | C | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.918-405A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111085 | |||||||
chr2:130111159 | G | C | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.918-479C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111159 | |||||||
chr2:130111161 | C | T | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.918-481G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111161 | |||||||
chr2:130111166 | A | G | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.918-486T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111166 | |||||||
chr2:130111166 | A | T | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.918-486T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111166 | |||||||
chr2:130111197 | G | T | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.918-517C>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111197 | |||||||
chr2:130111224 | T | C | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.918-544A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111224 | |||||||
chr2:130111234 | T | C | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.918-554A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111234 | |||||||
chr2:130111251 | C | T | 4 | a0004c0007t0005g0010 a0004c0007t0005g0011 a0004c0007t0005g0012 others(1): Show |
4 | HG01243.hp2 HG02559.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.918-571G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111251 | |||||||
chr2:130111252 | G | A | 2 | a0002c0003t0001g0126 a0017c0029t0004g0071 |
2 | HG02257.hp2 HG02630.hp1 |
intron_variant | MODIFIER | c.918-572C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111252 | |||||||
chr2:130111289 | C | G | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.918-609G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111289 | |||||||
chr2:130111290 | T | G | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.918-610A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111290 | |||||||
chr2:130111347 | C | T | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.917+648G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111347 | |||||||
chr2:130111348 | G | C | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.917+647C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111348 | |||||||
chr2:130111352 | G | A | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.917+643C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111352 | |||||||
chr2:130111353 | G | T | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.917+642C>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111353 | |||||||
chr2:130111358 | T | C | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.917+637A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111358 | |||||||
chr2:130111407 | T | C | 1 | a0002c0003t0001g0141 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.917+588A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111407 | |||||||
chr2:130111425 | A | C | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.917+570T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111425 | |||||||
chr2:130111434 | T | C | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.917+561A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111434 | |||||||
chr2:130111451 | A | T | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.917+544T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111451 | |||||||
chr2:130111453 | C | A | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.917+542G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111453 | |||||||
chr2:130111506 | T | C | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.917+489A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111506 | |||||||
chr2:130111513 | G | C | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.917+482C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111513 | |||||||
chr2:130111526 | C | T | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.917+469G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111526 | |||||||
chr2:130111558 | A | G | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.917+437T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111558 | |||||||
chr2:130111566 | A | G | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.917+429T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111566 | |||||||
chr2:130111612 | T | G | 4 | a0003c0006t0003g0075 a0003c0006t0003g0076 a0003c0006t0003g0077 others(1): Show |
4 | HG02615.hp2 HG02622.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.917+383A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111612 | |||||||
chr2:130111618 | A | G | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.917+377T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111618 | |||||||
chr2:130111720 | AAATT | A | 6 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(3): Show |
6 | HG02258.hp1 HG02717.hp1 HG03209.hp2 others(3): Show |
intron_variant | MODIFIER | c.917+271_917+274del others(4): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111720 | |||||||
chr2:130111735 | C | G | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.917+260G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111735 | |||||||
chr2:130111737 | T | C | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.917+258A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111737 | |||||||
chr2:130111740 | A | T | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.917+255T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111740 | |||||||
chr2:130111769 | T | C | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.917+226A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111769 | |||||||
chr2:130111801 | TAA | T | 2 | a0002c0002t0001g0109 a0017c0029t0004g0071 |
2 | HG01993.hp2 HG02257.hp2 |
intron_variant | MODIFIER | c.917+192_917+193del others(2): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111801 | |||||||
chr2:130111811 | T | C | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.917+184A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111811 | |||||||
chr2:130111846 | C | T | 1 | a0017c0029t0004g0071 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.917+149G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111846 | |||||||
chr2:130111851 | G | A | 56 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(53): Show |
57 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(54): Show |
intron_variant | MODIFIER | c.917+144C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111851 | |||||||
chr2:130111885 | T | C | 1 | a0013c0014t0019g0090 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.917+110A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111885 | |||||||
chr2:130111956 | G | A | 6 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(3): Show |
6 | HG02257.hp2 HG02258.hp1 HG02717.hp1 others(3): Show |
intron_variant | MODIFIER | c.917+39C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111956 | |||||||
chr2:130111965 | C | G | 6 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(3): Show |
6 | HG02257.hp2 HG02258.hp1 HG02717.hp1 others(3): Show |
intron_variant | MODIFIER | c.917+30G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111965 | |||||||
chr2:130111966 | AAC | A | 6 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(3): Show |
6 | HG02257.hp2 HG02258.hp1 HG02717.hp1 others(3): Show |
intron_variant | MODIFIER | c.917+27_917+28delGT | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111966 | |||||||
chr2:130111978 | AAAAG | A | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.917+13_917+16delCT others(2): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 6/16 | chr2 | 130111978 | |||||||
chr2:130112161 | G | A | 97 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(94): Show |
101 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(98): Show |
intron_variant | MODIFIER | c.811-60C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130112161 | |||||||
chr2:130112177 | A | G | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.811-76T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130112177 | |||||||
chr2:130112178 | T | C | 2 | a0001c0001t0002g0050 a0001c0045t0002g0008 |
2 | HG02809.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.811-77A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130112178 | |||||||
chr2:130112204 | G | GA | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.811-104dupT | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130112204 | |||||||
chr2:130112221 | G | C | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.811-120C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130112221 | |||||||
chr2:130112224 | A | G | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.811-123T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130112224 | |||||||
chr2:130112264 | C | G | 3 | a0005c0012t0007g0152 a0005c0012t0007g0154 a0005c0038t0007g0153 |
3 | HG02572.hp2 HG02615.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.811-163G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130112264 | |||||||
chr2:130112267 | C | T | 56 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(53): Show |
57 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(54): Show |
intron_variant | MODIFIER | c.811-166G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130112267 | |||||||
chr2:130112378 | T | A | 81 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(78): Show |
85 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(82): Show |
intron_variant | MODIFIER | c.811-277A>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130112378 | |||||||
chr2:130112481 | T | C | 1 | a0001c0001t0002g0061 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.811-380A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130112481 | |||||||
chr2:130112831 | T | A | 1 | a0029c0044t0018g0073 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.811-730A>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130112831 | |||||||
chr2:130112846 | T | A | 16 | a0002c0002t0001g0108 a0004c0007t0005g0010 a0004c0007t0005g0011 others(13): Show |
16 | HG01243.hp2 HG02015.hp2 HG02056.hp1 others(13): Show |
intron_variant | MODIFIER | c.811-745A>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130112846 | |||||||
chr2:130112929 | G | A | 2 | a0005c0012t0007g0152 a0005c0012t0007g0154 |
2 | HG02615.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.811-828C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130112929 | |||||||
chr2:130112936 | ATCCTCTA others(13): Show |
A | 2 | a0002c0002t0001g0108 a0015c0022t0001g0134 |
2 | HG02015.hp2 HG02056.hp1 |
intron_variant | MODIFIER | c.811-855_811-836del others(20): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130112936 | |||||||
chr2:130112989 | C | T | 2 | a0002c0002t0001g0108 a0015c0022t0001g0134 |
2 | HG02015.hp2 HG02056.hp1 |
intron_variant | MODIFIER | c.811-888G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130112989 | |||||||
chr2:130113012 | G | A | 2 | a0002c0002t0001g0108 a0015c0022t0001g0134 |
2 | HG02015.hp2 HG02056.hp1 |
intron_variant | MODIFIER | c.811-911C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130113012 | |||||||
chr2:130113049 | A | C | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.811-948T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130113049 | |||||||
chr2:130113076 | A | G | 100 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(97): Show |
104 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(101): Show |
intron_variant | MODIFIER | c.811-975T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130113076 | |||||||
chr2:130113077 | C | T | 100 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(97): Show |
104 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(101): Show |
intron_variant | MODIFIER | c.811-976G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130113077 | |||||||
chr2:130113080 | CAG | C | 19 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(16): Show |
22 | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.811-981_811-980del others(2): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130113080 | |||||||
chr2:130113090 | A | T | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.811-989T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130113090 | |||||||
chr2:130113128 | T | C | 10 | a0004c0007t0005g0010 a0004c0007t0005g0011 a0004c0007t0005g0012 others(7): Show |
10 | HG01243.hp2 HG02257.hp2 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.811-1027A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130113128 | |||||||
chr2:130113221 | G | GA | 13 | a0002c0002t0001g0095 a0002c0002t0001g0146 a0002c0003t0001g0144 others(10): Show |
13 | HG01243.hp2 HG02257.hp2 HG02451.hp2 others(10): Show |
intron_variant | MODIFIER | c.811-1121dupT | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130113221 | |||||||
chr2:130113221 | GA | G | 56 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(53): Show |
60 | HG00544.hp2 HG00597.hp1 HG00597.hp2 others(57): Show |
intron_variant | MODIFIER | c.811-1121delT | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130113221 | |||||||
chr2:130113221 | GAA | G | 9 | a0001c0001t0002g0050 a0001c0001t0002g0064 a0001c0032t0002g0032 others(6): Show |
9 | HG02258.hp1 HG02717.hp1 HG02809.hp2 others(6): Show |
intron_variant | MODIFIER | c.811-1122_811-1121d others(4): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130113221 | |||||||
chr2:130113226 | A | ATAAAAAA others(18): Show |
2 | a0002c0002t0001g0108 a0015c0022t0001g0134 |
2 | HG02015.hp2 HG02056.hp1 |
intron_variant | MODIFIER | c.811-1126_811-1125i others(27): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130113226 | |||||||
chr2:130113231 | A | T | 2 | a0002c0002t0001g0108 a0015c0022t0001g0134 |
2 | HG02015.hp2 HG02056.hp1 |
intron_variant | MODIFIER | c.811-1130T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130113231 | |||||||
chr2:130113338 | T | A | 1 | a0022c0042t0023g0156 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.811-1237A>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130113338 | |||||||
chr2:130113341 | C | CA | 67 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(64): Show |
71 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(68): Show |
intron_variant | MODIFIER | c.811-1241dupT | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130113341 | |||||||
chr2:130113341 | C | CAA | 7 | a0003c0004t0003g0082 a0003c0005t0003g0085 a0003c0005t0003g0086 others(4): Show |
7 | HG01243.hp1 HG02055.hp1 HG02145.hp1 others(4): Show |
intron_variant | MODIFIER | c.811-1242_811-1241d others(4): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130113341 | |||||||
chr2:130113383 | A | G | 2 | a0002c0002t0001g0107 a0002c0002t0001g0133 |
2 | HG01952.hp1 NA19004.hp1 |
intron_variant | MODIFIER | c.811-1282T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130113383 | |||||||
chr2:130113400 | T | C | 1 | a0031c0020t0014g0018 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.811-1299A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130113400 | |||||||
chr2:130113467 | G | A | 19 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(16): Show |
22 | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.811-1366C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130113467 | |||||||
chr2:130113526 | CGTT | C | 5 | a0005c0012t0007g0152 a0005c0012t0007g0154 a0005c0038t0007g0153 others(2): Show |
5 | HG02572.hp2 HG02615.hp1 HG03098.hp2 others(2): Show |
intron_variant | MODIFIER | c.810+1352_810+1354d others(5): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130113526 | |||||||
chr2:130113526 | CGTTGTTG others(2): Show |
C | 75 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(72): Show |
79 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(76): Show |
intron_variant | MODIFIER | c.810+1346_810+1354d others(11): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130113526 | |||||||
chr2:130113536 | G | A | 1 | a0001c0001t0002g0056 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.810+1345C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130113536 | |||||||
chr2:130113542 | G | A | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.810+1339C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130113542 | |||||||
chr2:130113581 | A | T | 9 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(6): Show |
12 | HG01891.hp1 HG02145.hp1 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.810+1300T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130113581 | |||||||
chr2:130113648 | C | T | 80 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(77): Show |
84 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(81): Show |
intron_variant | MODIFIER | c.810+1233G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130113648 | |||||||
chr2:130113773 | A | G | 75 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(72): Show |
79 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(76): Show |
intron_variant | MODIFIER | c.810+1108T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130113773 | |||||||
chr2:130113851 | C | T | 1 | a0009c0013t0006g0091 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.810+1030G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130113851 | |||||||
chr2:130113888 | G | C | 3 | a0020c0018t0008g0150 a0023c0016t0008g0151 a0030c0017t0008g0149 |
3 | HG02886.hp1 HG03225.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.810+993C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130113888 | |||||||
chr2:130113964 | A | G | 1 | a0001c0033t0002g0036 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.810+917T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130113964 | |||||||
chr2:130114017 | T | A | 1 | a0002c0003t0001g0141 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.810+864A>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130114017 | |||||||
chr2:130114264 | G | A | 1 | a0001c0001t0002g0034 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.810+617C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130114264 | |||||||
chr2:130114283 | C | T | 1 | a0001c0009t0002g0058 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.810+598G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130114283 | |||||||
chr2:130114582 | A | T | 1 | a0003c0004t0003g0074 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.810+299T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130114582 | |||||||
chr2:130114588 | A | G | 1 | a0003c0004t0003g0074 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.810+293T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130114588 | |||||||
chr2:130114643 | T | G | 1 | a0002c0002t0001g0098 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.810+238A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130114643 | |||||||
chr2:130114677 | G | A | 1 | a0022c0042t0023g0156 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.810+204C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130114677 | |||||||
chr2:130114677 | G | C | 9 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(6): Show |
12 | HG01891.hp1 HG02145.hp1 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.810+204C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130114677 | |||||||
chr2:130114682 | A | T | 1 | a0001c0001t0002g0051 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.810+199T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130114682 | |||||||
chr2:130114837 | G | T | 1 | a0029c0044t0018g0073 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.810+44C>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 5/16 | chr2 | 130114837 | |||||||
chr2:130115085 | A | T | 80 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(77): Show |
84 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(81): Show |
intron_variant | MODIFIER | c.637-31T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 4/16 | chr2 | 130115085 | |||||||
chr2:130115195 | A | G | 13 | a0004c0007t0005g0010 a0004c0007t0005g0011 a0004c0007t0005g0012 others(10): Show |
13 | HG01243.hp2 HG02257.hp2 HG02451.hp2 others(10): Show |
intron_variant | MODIFIER | c.636+19T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 4/16 | chr2 | 130115195 | |||||||
chr2:130115341 | G | C | 4 | a0002c0003t0001g0129 a0002c0003t0021g0130 a0005c0038t0007g0153 others(1): Show |
4 | HG02027.hp2 HG02559.hp2 HG02572.hp2 others(1): Show |
intron_variant | MODIFIER | c.522-13C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130115341 | |||||||
chr2:130115460 | G | GA | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.522-133dupT | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130115460 | |||||||
chr2:130115488 | A | T | 1 | a0025c0025t0001g0127 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.522-160T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130115488 | |||||||
chr2:130115491 | G | A | 1 | a0025c0025t0001g0127 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.522-163C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130115491 | |||||||
chr2:130115500 | A | G | 1 | a0025c0025t0001g0127 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.522-172T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130115500 | |||||||
chr2:130115511 | G | A | 1 | a0025c0025t0001g0127 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.522-183C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130115511 | |||||||
chr2:130115515 | G | T | 1 | a0025c0025t0001g0127 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.522-187C>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130115515 | |||||||
chr2:130115528 | T | C | 1 | a0025c0025t0001g0127 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.522-200A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130115528 | |||||||
chr2:130115559 | G | T | 1 | a0025c0025t0001g0127 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.522-231C>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130115559 | |||||||
chr2:130115562 | G | A | 1 | a0025c0025t0001g0127 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.522-234C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130115562 | |||||||
chr2:130116113 | G | T | 2 | a0023c0016t0008g0151 a0030c0017t0008g0149 |
2 | HG03225.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.522-785C>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130116113 | |||||||
chr2:130116178 | C | T | 4 | a0004c0007t0005g0010 a0004c0007t0005g0011 a0004c0007t0005g0012 others(1): Show |
4 | HG01243.hp2 HG02559.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.522-850G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130116178 | |||||||
chr2:130116189 | C | T | 4 | a0004c0007t0005g0010 a0004c0007t0005g0011 a0004c0007t0005g0012 others(1): Show |
4 | HG01243.hp2 HG02559.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.522-861G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130116189 | |||||||
chr2:130116223 | G | T | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.522-895C>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130116223 | |||||||
chr2:130116228 | T | C | 4 | a0004c0007t0005g0010 a0004c0007t0005g0011 a0004c0007t0005g0012 others(1): Show |
4 | HG01243.hp2 HG02559.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.522-900A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130116228 | |||||||
chr2:130116246 | G | A | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.522-918C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130116246 | |||||||
chr2:130116250 | G | C | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.522-922C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130116250 | |||||||
chr2:130116387 | GGTTT | G | 3 | a0020c0018t0008g0150 a0023c0016t0008g0151 a0030c0017t0008g0149 |
3 | HG02886.hp1 HG03225.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.522-1063_522-1060d others(6): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130116387 | |||||||
chr2:130116448 | T | C | 2 | a0001c0001t0002g0057 a0005c0043t0001g0096 |
2 | HG00673.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.522-1120A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130116448 | |||||||
chr2:130116470 | A | G | 57 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(54): Show |
60 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(57): Show |
intron_variant | MODIFIER | c.522-1142T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130116470 | |||||||
chr2:130116499 | C | T | 14 | a0001c0001t0002g0004 a0001c0001t0002g0019 a0001c0001t0002g0021 others(11): Show |
15 | HG00544.hp2 HG00597.hp1 HG00735.hp2 others(12): Show |
intron_variant | MODIFIER | c.522-1171G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130116499 | |||||||
chr2:130116506 | C | T | 1 | a0025c0025t0001g0127 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.522-1178G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130116506 | |||||||
chr2:130116509 | T | C | 1 | a0022c0042t0023g0156 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.522-1181A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130116509 | |||||||
chr2:130116532 | T | C | 1 | a0002c0003t0001g0128 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.522-1204A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130116532 | |||||||
chr2:130116536 | T | C | 1 | a0013c0014t0006g0093 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.522-1208A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130116536 | |||||||
chr2:130116601 | A | G | 98 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(95): Show |
102 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(99): Show |
intron_variant | MODIFIER | c.522-1273T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130116601 | |||||||
chr2:130116629 | T | C | 1 | a0019c0034t0012g0045 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.522-1301A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130116629 | |||||||
chr2:130116685 | G | A | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.522-1357C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130116685 | |||||||
chr2:130116710 | A | G | 4 | a0003c0006t0003g0075 a0003c0006t0003g0076 a0003c0006t0003g0077 others(1): Show |
4 | HG02615.hp2 HG02622.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.522-1382T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130116710 | |||||||
chr2:130116849 | G | T | 3 | a0002c0002t0001g0104 a0005c0012t0007g0152 a0005c0012t0007g0154 |
3 | HG00639.hp1 HG02615.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.522-1521C>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130116849 | |||||||
chr2:130116908 | T | G | 99 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(96): Show |
103 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(100): Show |
intron_variant | MODIFIER | c.522-1580A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130116908 | |||||||
chr2:130116967 | T | C | 85 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(82): Show |
89 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(86): Show |
intron_variant | MODIFIER | c.522-1639A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130116967 | |||||||
chr2:130116987 | A | G | 1 | a0031c0020t0014g0018 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.522-1659T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130116987 | |||||||
chr2:130117051 | G | A | 19 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(16): Show |
22 | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.522-1723C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130117051 | |||||||
chr2:130117059 | A | G | 3 | a0005c0012t0007g0152 a0005c0012t0007g0154 a0005c0038t0007g0153 |
3 | HG02572.hp2 HG02615.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.522-1731T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130117059 | |||||||
chr2:130117121 | C | T | 80 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(77): Show |
84 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(81): Show |
intron_variant | MODIFIER | c.522-1793G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130117121 | |||||||
chr2:130117126 | G | A | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.522-1798C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130117126 | |||||||
chr2:130117149 | A | G | 1 | a0012c0041t0001g0097 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.522-1821T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130117149 | |||||||
chr2:130117248 | AG | A | 3 | a0003c0006t0003g0075 a0003c0006t0003g0076 a0003c0006t0003g0077 |
3 | HG02615.hp2 HG02622.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.522-1921delC | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130117248 | |||||||
chr2:130117395 | T | C | 2 | a0023c0016t0008g0151 a0030c0017t0008g0149 |
2 | HG03225.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.522-2067A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130117395 | |||||||
chr2:130117697 | G | A | 3 | a0005c0012t0007g0152 a0005c0012t0007g0154 a0005c0038t0007g0153 |
3 | HG02572.hp2 HG02615.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.521+2298C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130117697 | |||||||
chr2:130117747 | C | A | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.521+2248G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130117747 | |||||||
chr2:130117839 | T | G | 4 | a0003c0006t0003g0075 a0003c0006t0003g0076 a0003c0006t0003g0077 others(1): Show |
4 | HG02615.hp2 HG02622.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.521+2156A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130117839 | |||||||
chr2:130117934 | CCTTTTTT others(4): Show |
C | 56 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(53): Show |
57 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(54): Show |
intron_variant | MODIFIER | c.521+2050_521+2060d others(13): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130117934 | |||||||
chr2:130117935 | C | CT | 29 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(26): Show |
32 | HG01243.hp1 HG01243.hp2 HG01891.hp1 others(29): Show |
intron_variant | MODIFIER | c.521+2059dupA | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130117935 | |||||||
chr2:130117946 | C | T | 4 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(1): Show |
4 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(1): Show |
intron_variant | MODIFIER | c.521+2049G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130117946 | |||||||
chr2:130118000 | G | A | 19 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(16): Show |
22 | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.521+1995C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130118000 | |||||||
chr2:130118001 | C | A | 19 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(16): Show |
22 | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.521+1994G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130118001 | |||||||
chr2:130118004 | G | A | 1 | a0031c0020t0014g0018 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.521+1991C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130118004 | |||||||
chr2:130118340 | G | C | 1 | a0002c0003t0009g0140 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.521+1655C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130118340 | |||||||
chr2:130118350 | A | G | 1 | a0001c0001t0002g0046 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.521+1645T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130118350 | |||||||
chr2:130118412 | T | C | 1 | a0021c0039t0001g0148 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.521+1583A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130118412 | |||||||
chr2:130118441 | AACCCC | A | 15 | a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 others(12): Show |
15 | HG00099.hp2 HG00639.hp2 HG01346.hp2 others(12): Show |
intron_variant | MODIFIER | c.521+1549_521+1553d others(7): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130118441 | |||||||
chr2:130118455 | G | A | 1 | a0002c0003t0009g0140 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.521+1540C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130118455 | |||||||
chr2:130118523 | C | T | 1 | a0001c0001t0002g0017 | 1 | NA18989.hp2 | intron_variant | MODIFIER | c.521+1472G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130118523 | |||||||
chr2:130118557 | C | G | 2 | a0001c0001t0002g0067 a0001c0001t0002g0069 |
2 | NA18980.hp1 NA19074.hp2 |
intron_variant | MODIFIER | c.521+1438G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130118557 | |||||||
chr2:130118558 | G | A | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.521+1437C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130118558 | |||||||
chr2:130118645 | G | A | 18 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(15): Show |
21 | HG01891.hp1 HG02055.hp1 HG02145.hp1 others(18): Show |
intron_variant | MODIFIER | c.521+1350C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130118645 | |||||||
chr2:130118655 | T | C | 1 | a0021c0039t0001g0148 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.521+1340A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130118655 | |||||||
chr2:130118777 | G | T | 75 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(72): Show |
79 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(76): Show |
intron_variant | MODIFIER | c.521+1218C>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130118777 | |||||||
chr2:130119030 | G | A | 56 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(53): Show |
57 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(54): Show |
intron_variant | MODIFIER | c.521+965C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130119030 | |||||||
chr2:130119123 | T | A | 1 | a0001c0001t0002g0017 | 1 | NA18989.hp2 | intron_variant | MODIFIER | c.521+872A>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130119123 | |||||||
chr2:130119124 | A | T | 1 | a0001c0001t0002g0017 | 1 | NA18989.hp2 | intron_variant | MODIFIER | c.521+871T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130119124 | |||||||
chr2:130119125 | T | A | 1 | a0001c0001t0002g0017 | 1 | NA18989.hp2 | intron_variant | MODIFIER | c.521+870A>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130119125 | |||||||
chr2:130119165 | C | CT | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.521+829dupA | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130119165 | |||||||
chr2:130119186 | C | G | 2 | a0002c0002t0001g0122 a0029c0044t0018g0073 |
2 | HG02698.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.521+809G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130119186 | |||||||
chr2:130119202 | T | C | 1 | a0005c0012t0007g0154 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.521+793A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130119202 | |||||||
chr2:130119219 | A | G | 1 | a0005c0012t0007g0154 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.521+776T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130119219 | |||||||
chr2:130119296 | C | T | 98 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(95): Show |
102 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(99): Show |
intron_variant | MODIFIER | c.521+699G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130119296 | |||||||
chr2:130119308 | C | T | 3 | a0005c0012t0007g0152 a0005c0012t0007g0154 a0005c0038t0007g0153 |
3 | HG02572.hp2 HG02615.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.521+687G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130119308 | |||||||
chr2:130119325 | G | A | 2 | a0002c0002t0001g0006 a0002c0002t0020g0094 |
3 | HG02293.hp1 HG03492.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.521+670C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130119325 | |||||||
chr2:130119325 | G | C | 3 | a0005c0012t0007g0152 a0005c0012t0007g0154 a0005c0038t0007g0153 |
3 | HG02572.hp2 HG02615.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.521+670C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130119325 | |||||||
chr2:130119357 | A | G | 90 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(87): Show |
94 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(91): Show |
intron_variant | MODIFIER | c.521+638T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130119357 | |||||||
chr2:130119399 | C | A | 2 | a0002c0003t0001g0101 a0002c0003t0001g0131 |
2 | HG02145.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.521+596G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130119399 | |||||||
chr2:130119399 | C | T | 19 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(16): Show |
22 | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.521+596G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130119399 | |||||||
chr2:130119450 | G | A | 1 | a0005c0043t0001g0096 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.521+545C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130119450 | |||||||
chr2:130119617 | C | T | 1 | a0013c0014t0006g0093 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.521+378G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130119617 | |||||||
chr2:130119717 | T | A | 3 | a0020c0018t0008g0150 a0023c0016t0008g0151 a0030c0017t0008g0149 |
3 | HG02886.hp1 HG03225.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.521+278A>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 3/16 | chr2 | 130119717 | |||||||
chr2:130120727 | CT | C | 5 | a0003c0006t0003g0075 a0003c0006t0003g0076 a0003c0006t0003g0077 others(2): Show |
5 | HG02615.hp2 HG02622.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.-93-120delA | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130120727 | |||||||
chr2:130120744 | C | CACCCCAG others(9): Show |
5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.-93-152_-93-137dup others(16): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130120744 | |||||||
chr2:130120755 | G | A | 3 | a0010c0010t0004g0015 a0010c0010t0004g0016 a0027c0037t0004g0014 |
3 | HG02451.hp2 HG03139.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-93-147C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130120755 | |||||||
chr2:130120804 | C | T | 3 | a0020c0018t0008g0150 a0023c0016t0008g0151 a0030c0017t0008g0149 |
3 | HG02886.hp1 HG03225.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.-93-196G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130120804 | |||||||
chr2:130120937 | A | G | 19 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(16): Show |
22 | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.-93-329T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130120937 | |||||||
chr2:130120968 | ATGCGCGT others(43): Show |
A | 9 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(6): Show |
12 | HG01891.hp1 HG02145.hp1 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.-93-410_-93-361del others(50): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130120968 | |||||||
chr2:130120985 | T | G | 3 | a0020c0018t0008g0150 a0023c0016t0008g0151 a0030c0017t0008g0149 |
3 | HG02886.hp1 HG03225.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.-93-377A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130120985 | |||||||
chr2:130121021 | C | T | 2 | a0005c0012t0007g0152 a0005c0012t0007g0154 |
2 | HG02615.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.-93-413G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130121021 | |||||||
chr2:130121066 | G | T | 85 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(82): Show |
89 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(86): Show |
intron_variant | MODIFIER | c.-93-458C>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130121066 | |||||||
chr2:130121115 | T | C | 90 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(87): Show |
94 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(91): Show |
intron_variant | MODIFIER | c.-93-507A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130121115 | |||||||
chr2:130121121 | C | A | 85 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(82): Show |
89 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(86): Show |
intron_variant | MODIFIER | c.-93-513G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130121121 | |||||||
chr2:130121128 | C | CGCGTGCG others(6): Show |
3 | a0001c0001t0011g0033 a0009c0013t0006g0091 a0009c0013t0006g0092 |
3 | HG02258.hp1 HG02630.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.-93-533_-93-521dup others(13): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130121128 | |||||||
chr2:130121346 | G | A | 1 | a0001c0001t0011g0033 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.-93-738C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130121346 | |||||||
chr2:130121440 | AG | A | 2 | a0001c0001t0002g0025 a0001c0001t0016g0060 |
2 | HG01952.hp2 HG01978.hp1 |
intron_variant | MODIFIER | c.-93-833delC | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130121440 | |||||||
chr2:130121889 | T | C | 90 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(87): Show |
94 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(91): Show |
intron_variant | MODIFIER | c.-93-1281A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130121889 | |||||||
chr2:130121904 | T | C | 5 | a0002c0003t0001g0103 a0002c0003t0001g0126 a0002c0003t0001g0144 others(2): Show |
5 | HG01891.hp2 HG02280.hp1 HG02486.hp1 others(2): Show |
intron_variant | MODIFIER | c.-93-1296A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130121904 | |||||||
chr2:130121959 | C | A | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.-93-1351G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130121959 | |||||||
chr2:130122005 | T | C | 1 | a0001c0001t0002g0035 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.-93-1397A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130122005 | |||||||
chr2:130122007 | A | T | 1 | a0001c0001t0002g0035 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.-93-1399T>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130122007 | |||||||
chr2:130122060 | A | G | 1 | a0022c0042t0023g0156 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.-93-1452T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130122060 | |||||||
chr2:130122103 | C | A | 2 | a0005c0012t0007g0152 a0005c0012t0007g0154 |
2 | HG02615.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.-93-1495G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130122103 | |||||||
chr2:130122217 | C | T | 66 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(63): Show |
67 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(64): Show |
intron_variant | MODIFIER | c.-93-1609G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130122217 | |||||||
chr2:130122281 | G | C | 1 | a0021c0039t0001g0148 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.-93-1673C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130122281 | |||||||
chr2:130122282 | G | A | 3 | a0005c0012t0007g0152 a0005c0012t0007g0154 a0005c0038t0007g0153 |
3 | HG02572.hp2 HG02615.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.-93-1674C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130122282 | |||||||
chr2:130122341 | T | C | 1 | a0001c0001t0002g0061 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.-93-1733A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130122341 | |||||||
chr2:130122392 | T | C | 1 | a0001c0001t0002g0065 | 1 | NA19082.hp2 | intron_variant | MODIFIER | c.-93-1784A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130122392 | |||||||
chr2:130122512 | C | G | 90 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(87): Show |
94 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(91): Show |
intron_variant | MODIFIER | c.-93-1904G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130122512 | |||||||
chr2:130122536 | C | A | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.-93-1928G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130122536 | |||||||
chr2:130122636 | A | G | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.-93-2028T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130122636 | |||||||
chr2:130122665 | G | GATAA | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.-93-2058_-93-2057i others(6): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130122665 | |||||||
chr2:130122832 | A | G | 3 | a0005c0012t0007g0152 a0005c0012t0007g0154 a0005c0038t0007g0153 |
3 | HG02572.hp2 HG02615.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.-93-2224T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130122832 | |||||||
chr2:130122872 | G | C | 1 | a0005c0043t0001g0096 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.-93-2264C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130122872 | |||||||
chr2:130123148 | T | TA | 11 | a0004c0007t0005g0010 a0004c0007t0005g0011 a0004c0007t0005g0012 others(8): Show |
11 | HG01243.hp2 HG02257.hp2 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.-93-2541dupT | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130123148 | |||||||
chr2:130123167 | G | A | 56 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(53): Show |
57 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(54): Show |
intron_variant | MODIFIER | c.-93-2559C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130123167 | |||||||
chr2:130123209 | A | G | 2 | a0009c0013t0006g0091 a0009c0013t0006g0092 |
2 | HG02258.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.-93-2601T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130123209 | |||||||
chr2:130123240 | T | A | 1 | a0001c0001t0002g0034 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-93-2632A>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130123240 | |||||||
chr2:130123517 | A | G | 1 | a0005c0043t0001g0096 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.-93-2909T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130123517 | |||||||
chr2:130123555 | T | G | 2 | a0005c0038t0007g0153 a0005c0043t0001g0096 |
2 | HG02559.hp2 HG02572.hp2 |
intron_variant | MODIFIER | c.-93-2947A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130123555 | |||||||
chr2:130123632 | A | G | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.-93-3024T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130123632 | |||||||
chr2:130123643 | A | C | 2 | a0005c0038t0007g0153 a0005c0043t0001g0096 |
2 | HG02559.hp2 HG02572.hp2 |
intron_variant | MODIFIER | c.-93-3035T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130123643 | |||||||
chr2:130123666 | A | G | 2 | a0005c0038t0007g0153 a0005c0043t0001g0096 |
2 | HG02559.hp2 HG02572.hp2 |
intron_variant | MODIFIER | c.-93-3058T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130123666 | |||||||
chr2:130123828 | G | T | 1 | a0022c0042t0023g0156 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.-93-3220C>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130123828 | |||||||
chr2:130124032 | C | T | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.-93-3424G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130124032 | |||||||
chr2:130124099 | C | A | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.-93-3491G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130124099 | |||||||
chr2:130124148 | G | A | 99 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(96): Show |
103 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(100): Show |
intron_variant | MODIFIER | c.-93-3540C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130124148 | |||||||
chr2:130124178 | T | C | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.-94+3531A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130124178 | |||||||
chr2:130124424 | A | G | 115 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(112): Show |
119 | HG00099.hp2 HG00544.hp1 HG00544.hp2 others(116): Show |
intron_variant | MODIFIER | c.-94+3285T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130124424 | |||||||
chr2:130124661 | C | G | 90 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(87): Show |
94 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(91): Show |
intron_variant | MODIFIER | c.-94+3048G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130124661 | |||||||
chr2:130124715 | T | C | 1 | a0001c0001t0002g0066 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.-94+2994A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130124715 | |||||||
chr2:130124756 | C | A | 1 | a0005c0038t0007g0153 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.-94+2953G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130124756 | |||||||
chr2:130124902 | T | C | 84 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(81): Show |
88 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(85): Show |
intron_variant | MODIFIER | c.-94+2807A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130124902 | |||||||
chr2:130124925 | C | T | 84 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(81): Show |
88 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(85): Show |
intron_variant | MODIFIER | c.-94+2784G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130124925 | |||||||
chr2:130125043 | G | A | 1 | a0001c0001t0002g0050 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.-94+2666C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130125043 | |||||||
chr2:130125076 | C | T | 56 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(53): Show |
57 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(54): Show |
intron_variant | MODIFIER | c.-94+2633G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130125076 | |||||||
chr2:130125376 | C | G | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.-94+2333G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130125376 | |||||||
chr2:130125387 | C | T | 19 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(16): Show |
22 | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.-94+2322G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130125387 | |||||||
chr2:130125472 | C | T | 17 | a0001c0001t0002g0004 a0001c0001t0002g0019 a0001c0001t0002g0021 others(14): Show |
18 | HG00544.hp2 HG00597.hp1 HG01515.hp2 others(15): Show |
intron_variant | MODIFIER | c.-94+2237G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130125472 | |||||||
chr2:130125477 | T | C | 1 | a0001c0001t0002g0062 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.-94+2232A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130125477 | |||||||
chr2:130125627 | T | C | 85 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(82): Show |
89 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(86): Show |
intron_variant | MODIFIER | c.-94+2082A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130125627 | |||||||
chr2:130125672 | G | A | 4 | a0003c0006t0003g0075 a0003c0006t0003g0076 a0003c0006t0003g0077 others(1): Show |
4 | HG02615.hp2 HG02622.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.-94+2037C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130125672 | |||||||
chr2:130125804 | G | A | 1 | a0029c0044t0018g0073 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-94+1905C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130125804 | |||||||
chr2:130125938 | G | A | 6 | a0002c0002t0001g0122 a0002c0002t0001g0124 a0002c0002t0001g0147 others(3): Show |
6 | HG00099.hp1 HG00735.hp1 HG01261.hp2 others(3): Show |
intron_variant | MODIFIER | c.-94+1771C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130125938 | |||||||
chr2:130126029 | C | T | 1 | a0021c0039t0001g0148 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.-94+1680G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130126029 | |||||||
chr2:130126030 | G | A | 1 | a0009c0013t0006g0091 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.-94+1679C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130126030 | |||||||
chr2:130126196 | A | G | 90 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(87): Show |
94 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(91): Show |
intron_variant | MODIFIER | c.-94+1513T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130126196 | |||||||
chr2:130126300 | T | A | 29 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(26): Show |
32 | HG01243.hp1 HG01243.hp2 HG01891.hp1 others(29): Show |
intron_variant | MODIFIER | c.-94+1409A>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130126300 | |||||||
chr2:130126303 | C | CA | 5 | a0002c0003t0001g0126 a0020c0018t0008g0150 a0023c0016t0008g0151 others(2): Show |
5 | HG02630.hp1 HG02886.hp1 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.-94+1405dupT | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130126303 | |||||||
chr2:130126303 | C | T | 1 | a0013c0014t0006g0093 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.-94+1406G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130126303 | |||||||
chr2:130126303 | CA | C | 28 | a0001c0001t0002g0063 a0001c0001t0002g0067 a0001c0001t0002g0069 others(25): Show |
31 | HG01243.hp1 HG01515.hp1 HG01891.hp1 others(28): Show |
intron_variant | MODIFIER | c.-94+1405delT | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130126303 | |||||||
chr2:130126303 | CAA | C | 62 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(59): Show |
63 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(60): Show |
intron_variant | MODIFIER | c.-94+1404_-94+1405d others(4): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130126303 | |||||||
chr2:130126320 | A | AG | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.-94+1388_-94+1389i others(3): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130126320 | |||||||
chr2:130126321 | A | G | 5 | a0002c0002t0001g0098 a0005c0012t0007g0152 a0005c0012t0007g0154 others(2): Show |
5 | HG02559.hp2 HG02572.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.-94+1388T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130126321 | |||||||
chr2:130126325 | G | A | 3 | a0020c0018t0008g0150 a0023c0016t0008g0151 a0030c0017t0008g0149 |
3 | HG02886.hp1 HG03225.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.-94+1384C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130126325 | |||||||
chr2:130126339 | G | A | 1 | a0025c0025t0001g0127 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.-94+1370C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130126339 | |||||||
chr2:130126381 | T | C | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.-94+1328A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130126381 | |||||||
chr2:130126514 | C | T | 1 | a0028c0036t0013g0047 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.-94+1195G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130126514 | |||||||
chr2:130126672 | G | A | 3 | a0010c0010t0004g0015 a0010c0010t0004g0016 a0027c0037t0004g0014 |
3 | HG02451.hp2 HG03139.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-94+1037C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130126672 | |||||||
chr2:130127186 | G | A | 1 | a0005c0038t0007g0153 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.-94+523C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130127186 | |||||||
chr2:130127256 | C | T | 85 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(82): Show |
89 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(86): Show |
intron_variant | MODIFIER | c.-94+453G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130127256 | |||||||
chr2:130127274 | G | A | 1 | a0021c0039t0001g0148 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.-94+435C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130127274 | |||||||
chr2:130127287 | G | T | 98 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(95): Show |
102 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(99): Show |
intron_variant | MODIFIER | c.-94+422C>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130127287 | |||||||
chr2:130127300 | G | A | 1 | a0005c0043t0001g0096 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.-94+409C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130127300 | |||||||
chr2:130127324 | C | CA | 44 | a0001c0001t0002g0004 a0001c0001t0002g0017 a0001c0001t0002g0019 others(41): Show |
45 | HG00099.hp2 HG00597.hp1 HG00639.hp2 others(42): Show |
intron_variant | MODIFIER | c.-94+384dupT | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130127324 | |||||||
chr2:130127324 | C | CAA | 34 | a0001c0001t0002g0009 a0001c0001t0002g0048 a0001c0001t0002g0049 others(31): Show |
37 | HG00544.hp1 HG00597.hp2 HG00673.hp1 others(34): Show |
intron_variant | MODIFIER | c.-94+383_-94+384dup others(2): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130127324 | |||||||
chr2:130127324 | C | CAAA | 14 | a0001c0001t0002g0007 a0001c0001t0002g0064 a0001c0001t0002g0065 others(11): Show |
14 | HG01243.hp1 HG01243.hp2 HG01258.hp2 others(11): Show |
intron_variant | MODIFIER | c.-94+382_-94+384dup others(3): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130127324 | |||||||
chr2:130127350 | A | G | 1 | a0009c0013t0006g0091 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.-94+359T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130127350 | |||||||
chr2:130127351 | A | C | 1 | a0009c0013t0006g0091 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.-94+358T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130127351 | |||||||
chr2:130127351 | A | G | 3 | a0009c0013t0006g0092 a0013c0014t0019g0090 a0029c0044t0018g0073 |
3 | HG02717.hp1 NA19240.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.-94+358T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130127351 | |||||||
chr2:130127352 | G | C | 4 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0019g0090 others(1): Show |
4 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(1): Show |
intron_variant | MODIFIER | c.-94+357C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130127352 | |||||||
chr2:130127353 | C | A | 1 | a0009c0013t0006g0091 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.-94+356G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130127353 | |||||||
chr2:130127353 | C | CA | 3 | a0009c0013t0006g0092 a0013c0014t0019g0090 a0029c0044t0018g0073 |
3 | HG02717.hp1 NA19240.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.-94+355_-94+356ins others(1): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130127353 | |||||||
chr2:130127353 | C | CCA | 7 | a0001c0001t0002g0017 a0001c0001t0002g0067 a0001c0001t0002g0069 others(4): Show |
7 | HG02615.hp1 HG04115.hp2 HG06807.hp2 others(4): Show |
intron_variant | MODIFIER | c.-94+354_-94+355dup others(2): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130127353 | |||||||
chr2:130127357 | A | C | 1 | a0022c0042t0023g0156 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.-94+352T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130127357 | |||||||
chr2:130127435 | G | T | 10 | a0004c0007t0005g0010 a0004c0007t0005g0011 a0004c0007t0005g0012 others(7): Show |
10 | HG01243.hp2 HG02257.hp2 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.-94+274C>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130127435 | |||||||
chr2:130127504 | C | G | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.-94+205G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130127504 | |||||||
chr2:130127525 | A | G | 1 | a0029c0044t0018g0073 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-94+184T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130127525 | |||||||
chr2:130127534 | G | C | 5 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(2): Show |
5 | HG02258.hp1 HG02717.hp1 NA19240.hp1 others(2): Show |
intron_variant | MODIFIER | c.-94+175C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130127534 | |||||||
chr2:130127640 | T | C | 4 | a0004c0007t0005g0010 a0004c0007t0005g0011 a0004c0007t0005g0012 others(1): Show |
4 | HG01243.hp2 HG02559.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.-94+69A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | 130127640 | |||||||
chr2:130127957 | G | C | 99 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(96): Show |
103 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(100): Show |
intron_variant | MODIFIER | c.-249-93C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 1/16 | chr2 | 130127957 | |||||||
chr2:130127969 | G | A | 4 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(1): Show |
4 | HG02258.hp1 HG02717.hp1 NA20300.hp1 others(1): Show |
intron_variant | MODIFIER | c.-249-105C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 1/16 | chr2 | 130127969 | |||||||
chr2:130128137 | T | A | 11 | a0001c0001t0002g0017 a0002c0002t0001g0098 a0003c0004t0003g0005 others(8): Show |
14 | HG01891.hp1 HG02145.hp1 HG02257.hp1 others(11): Show |
intron_variant | MODIFIER | c.-249-273A>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 1/16 | chr2 | 130128137 | |||||||
chr2:130128160 | A | G | 27 | a0002c0002t0001g0098 a0003c0004t0003g0005 a0003c0004t0003g0074 others(24): Show |
30 | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(27): Show |
intron_variant | MODIFIER | c.-249-296T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 1/16 | chr2 | 130128160 | |||||||
chr2:130128206 | C | T | 1 | a0001c0001t0015g0020 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.-249-342G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 1/16 | chr2 | 130128206 | |||||||
chr2:130128227 | C | T | 1 | a0031c0020t0014g0018 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-249-363G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 1/16 | chr2 | 130128227 | |||||||
chr2:130128311 | C | T | 1 | a0012c0041t0001g0097 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-249-447G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 1/16 | chr2 | 130128311 | |||||||
chr2:130128324 | A | G | 1 | a0001c0001t0002g0019 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.-249-460T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 1/16 | chr2 | 130128324 | |||||||
chr2:130128334 | C | G | 1 | a0011c0011t0017g0072 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.-249-470G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 1/16 | chr2 | 130128334 | |||||||
chr2:130128337 | G | C | 1 | a0011c0011t0017g0072 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.-249-473C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 1/16 | chr2 | 130128337 | |||||||
chr2:130128369 | C | T | 1 | a0011c0011t0017g0072 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.-249-505G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 1/16 | chr2 | 130128369 | |||||||
chr2:130128446 | G | A | 92 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(89): Show |
96 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(93): Show |
intron_variant | MODIFIER | c.-249-582C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 1/16 | chr2 | 130128446 | |||||||
chr2:130128510 | C | A | 64 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(61): Show |
65 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(62): Show |
intron_variant | MODIFIER | c.-250+562G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 1/16 | chr2 | 130128510 | |||||||
chr2:130128526 | T | C | 59 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(56): Show |
60 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(57): Show |
intron_variant | MODIFIER | c.-250+546A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 1/16 | chr2 | 130128526 | |||||||
chr2:130128548 | AC | A | 87 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(84): Show |
91 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(88): Show |
intron_variant | MODIFIER | c.-250+523delG | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 1/16 | chr2 | 130128548 | |||||||
chr2:130128566 | C | T | 1 | a0011c0011t0017g0072 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.-250+506G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 1/16 | chr2 | 130128566 | |||||||
chr2:130128588 | G | A | 2 | a0004c0007t0005g0012 a0004c0007t0005g0013 |
2 | HG01243.hp2 HG02559.hp1 |
intron_variant | MODIFIER | c.-250+484C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 1/16 | chr2 | 130128588 | |||||||
chr2:130128595 | C | T | 1 | a0005c0043t0001g0096 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.-250+477G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 1/16 | chr2 | 130128595 | |||||||
chr2:130128668 | A | G | 1 | a0005c0012t0007g0152 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.-250+404T>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 1/16 | chr2 | 130128668 | |||||||
chr2:130128674 | C | G | 1 | a0005c0012t0007g0152 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.-250+398G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 1/16 | chr2 | 130128674 | |||||||
chr2:130128676 | C | G | 1 | a0005c0012t0007g0152 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.-250+396G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 1/16 | chr2 | 130128676 | |||||||
chr2:130128704 | G | C | 3 | a0010c0010t0004g0015 a0010c0010t0004g0016 a0027c0037t0004g0014 |
3 | HG02451.hp2 HG03139.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-250+368C>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 1/16 | chr2 | 130128704 | |||||||
chr2:130128718 | C | A | 8 | a0009c0013t0006g0091 a0009c0013t0006g0092 a0013c0014t0006g0093 others(5): Show |
8 | HG02258.hp1 HG02717.hp1 HG02886.hp1 others(5): Show |
intron_variant | MODIFIER | c.-250+354G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 1/16 | chr2 | 130128718 | |||||||
chr2:130128718 | C | G | 10 | a0004c0007t0005g0010 a0004c0007t0005g0011 a0004c0007t0005g0012 others(7): Show |
10 | HG01243.hp2 HG02257.hp2 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.-250+354G>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 1/16 | chr2 | 130128718 | |||||||
chr2:130128719 | G | A | 3 | a0001c0001t0002g0009 a0001c0001t0002g0069 a0018c0021t0001g0142 |
3 | HG00597.hp2 HG02258.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.-250+353C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 1/16 | chr2 | 130128719 | |||||||
chr2:130128756 | T | TA | 72 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0017 others(69): Show |
75 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(72): Show |
intron_variant | MODIFIER | c.-250+315dupT | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 1/16 | chr2 | 130128756 | |||||||
chr2:130128761 | C | A | 1 | a0007c0026t0001g0143 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.-250+311G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 1/16 | chr2 | 130128761 | |||||||
chr2:130128774 | A | C | 18 | a0001c0001t0002g0009 a0002c0002t0001g0095 a0002c0002t0020g0094 others(15): Show |
19 | HG00597.hp2 HG01243.hp1 HG02055.hp1 others(16): Show |
intron_variant | MODIFIER | c.-250+298T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 1/16 | chr2 | 130128774 | |||||||
chr2:130128813 | T | C | 84 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(81): Show |
87 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(84): Show |
intron_variant | MODIFIER | c.-250+259A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 1/16 | chr2 | 130128813 | |||||||
chr2:130128813 | T | G | 1 | a0001c0045t0002g0008 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.-250+259A>C | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 1/16 | chr2 | 130128813 | |||||||
chr2:130128814 | G | A | 1 | a0002c0003t0001g0144 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.-250+258C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 1/16 | chr2 | 130128814 | |||||||
chr2:130128825 | C | A | 1 | a0002c0003t0001g0144 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.-250+247G>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 1/16 | chr2 | 130128825 | |||||||
chr2:130128877 | T | C | 15 | a0002c0003t0001g0145 a0003c0004t0003g0005 a0003c0004t0003g0080 others(12): Show |
16 | HG01243.hp1 HG02055.hp1 HG02145.hp1 others(13): Show |
intron_variant | MODIFIER | c.-250+195A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 1/16 | chr2 | 130128877 | |||||||
chr2:130128922 | A | C | 1 | a0011c0011t0017g0072 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.-250+150T>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 1/16 | chr2 | 130128922 | |||||||
chr2:130128926 | G | A | 5 | a0002c0002t0001g0146 a0002c0002t0001g0147 a0005c0012t0007g0152 others(2): Show |
5 | HG02572.hp2 HG02615.hp1 HG04184.hp1 others(2): Show |
intron_variant | MODIFIER | c.-250+146C>T | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 1/16 | chr2 | 130128926 | |||||||
chr2:130129004 | T | C | 98 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(95): Show |
102 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(99): Show |
intron_variant | MODIFIER | c.-250+68A>G | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 1/16 | chr2 | 130129004 | |||||||
chr2:130129060 | C | T | 1 | a0001c0001t0002g0007 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.-250+12G>A | POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 1/16 | chr2 | 130129060 |